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 CSMD3 114788 broad.mit.edu 37 8 113599423 113599423 + Silent SNP G G A TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr8:113599423G>A ENST00000297405.5 - 23 4001 c.3757C>T c.(3757-3759)Ctg>Ttg p.L1253L CSMD3_ENST00000352409.3_Silent_p.L1253L|CSMD3_ENST00000343508.3_Silent_p.L1213L|CSMD3_ENST00000455883.2_Silent_p.L1149L NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 1253 CUB 7. integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 TTTGGAGACAGCAAAATTCCT 0.353000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 29 222 0 0 1 0 0 UBR4 23352 broad.mit.edu 37 1 19487411 19487411 + Splice_Site SNP C C T TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr1:19487411C>T ENST00000375267.2 - 38 5409 c.5406_splice c.e38+1 p.Q1802_splice UBR4_ENST00000375226.2_Splice_Site_p.Q1802_splice|UBR4_ENST00000375254.3_Splice_Site_p.Q1802_splice|UBR4_ENST00000375217.2_Splice_Site_p.Q1802_splice Q5T4S7 UBR4_HUMAN ubiquitin protein ligase E3 component n-recognin 4 1802 interspecies interaction between organisms cytoplasm|cytoskeleton|integral to membrane|nucleus calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6) 171 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256) UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816) TCAGCCCCACCTGGTTCTGTA 0.512000 12 36 0 0 1 0 0 GPR111 222611 broad.mit.edu 37 6 47649665 47649665 + Missense_Mutation SNP C C G TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr6:47649665C>G ENST00000398742.2 + 5 1215 c.1166C>G c.(1165-1167)tCt>tGt p.S389C GPR111_ENST00000507065.1_Missense_Mutation_p.S389C|GPR111_ENST00000296862.1_Missense_Mutation_p.S457C Q8IZF7 GP111_HUMAN G protein-coupled receptor 111 457 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(15)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 29 CTGGGCATTTCTATTTGCAGC 0.428000 60 187 0 0 1 0 0 PAX1 5075 broad.mit.edu 37 20 21687574 21687574 + Missense_Mutation SNP C C A TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr20:21687574C>A ENST00000398485.2 + 2 839 c.785C>A c.(784-786)cCc>cAc p.P262H PAX1_ENST00000460221.1_3'UTR|PAX1_ENST00000444366.2_Missense_Mutation_p.P238H NM_001257096.1|NM_006192.4 NP_001244025.1|NP_006183.2 P15863 PAX1_HUMAN paired box 1 262 regulation of transcription, DNA-dependent|skeletal system development|transcription from RNA polymerase II promoter nucleus DNA binding autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(21)|prostate(3)|skin(1)|upper_aerodigestive_tract(3) 38 CCCGTGTCGCCCACGGGCGCC 0.697000 3 71 0.115264 0.115767 1 1 0 SEPHS2 22928 broad.mit.edu 37 16 30456870 30456870 + Silent SNP C C T TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr16:30456870C>T ENST00000478753.2 - 1 632 c.179G>A c.(178-180)tGa>tAa p.*60* SEPHS2_ENST00000542752.1_Intron|SEPHS2_ENST00000500504.2_Silent_p.*60* Q99611 SPS2_HUMAN selenophosphate synthetase 2 60 selenocysteine biosynthetic process ATP binding|selenide, water dikinase activity breast(3)|cervix(1)|kidney(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1) 10 CTTGCAGCCTCAGCCCTTCAT 0.726000 5 6 0 0 1 0 0 CAMK1D 57118 broad.mit.edu 37 10 12866500 12866500 + Silent SNP C C T TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr10:12866500C>T ENST00000378847.3 + 9 1207 c.870C>T c.(868-870)caC>caT p.H290H CAMK1D_ENST00000378845.1_Silent_p.H290H NM_153498.2 NP_705718.1 Q8IU85 KCC1D_HUMAN calcium/calmodulin-dependent protein kinase ID 290 Autoinhibitory domain (By similarity). calcium- and calmodulin-dependent protein kinase complex|cytoplasm|nucleus ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1) 16 GBM - Glioblastoma multiforme(1;3.16e-05) AAAACATCCACGAGTCCGTCA 0.517000 7 42 0 0 1 0 0 NBPF10 100132406 broad.mit.edu 37 1 145302714 145302714 + Silent SNP A A G rs9424867 TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr1:145302714A>G ENST00000342960.5 + 8 1187 c.1152A>G c.(1150-1152)ttA>ttG p.L384L NBPF10_ENST00000369338.1_Silent_p.L113L|NBPF10_ENST00000369339.2_Silent_p.L113L|RP11-458D21.5_ENST00000468030.1_3'UTR NM_001039703.4 NP_001034792.4 A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 384 p.L113L(3)|p.L384L(3) NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) AGGAGAAGTTACGGGAAGGGA 0.527000 7 236 0 0 1 0 0 TMC7 79905 broad.mit.edu 37 16 19063127 19063127 + Missense_Mutation SNP C C G TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr16:19063127C>G ENST00000421369.3 + 13 2088 c.1530C>G c.(1528-1530)atC>atG p.I510M TMC7_ENST00000304381.5_Missense_Mutation_p.I620M|TMC7_ENST00000569532.1_Missense_Mutation_p.I620M NM_001160364.1 NP_001153836.1 Q7Z402 TMC7_HUMAN transmembrane channel-like 7 620 integral to membrane breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1) 28 CTCTGACAATCAGCATATCAC 0.413000 70 316 0 0 1 0 0 SLC7A14 57709 broad.mit.edu 37 3 170184960 170184960 + Missense_Mutation SNP C C G TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr3:170184960C>G ENST00000231706.4 - 8 2514 c.2199G>C c.(2197-2199)caG>caC p.Q733H CLDN11_ENST00000486975.1_Intron|CLDN11_ENST00000451576.1_Intron NM_020949.2 NP_066000.2 Q8TBB6 S7A14_HUMAN solute carrier family 7, member 14 733 integral to membrane amino acid transmembrane transporter activity central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4) 53 all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137) Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12) CATCTGACATCTGTTGGTAAT 0.532000 48 208 0 0 1 0 0 TBC1D19 55296 broad.mit.edu 37 4 26719590 26719590 + Silent SNP G G A TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr4:26719590G>A ENST00000264866.4 + 14 1268 c.990G>A c.(988-990)ttG>ttA p.L330L TBC1D19_ENST00000511789.1_Silent_p.L265L NM_018317.2 NP_060787.2 Q8N5T2 TBC19_HUMAN TBC1 domain family, member 19 330 Rab-GAP TBC. intracellular Rab GTPase activator activity breast(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1) 17 Breast(46;0.0503) CATCTGTGTTGAGTCACTTTG 0.303000 34 105 0 0 1 0 0 NAA38 51691 broad.mit.edu 37 7 117828389 117828389 + Nonsense_Mutation SNP C C T TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr7:117828389C>T ENST00000424702.1 + 3 210 c.130C>T c.(130-132)Cga>Tga p.R44* NAA38_ENST00000422760.1_Nonsense_Mutation_p.R23*|NAA38_ENST00000249299.2_Nonsense_Mutation_p.R44* O95777 NAA38_HUMAN N(alpha)-acetyltransferase 38, NatC auxiliary subunit 44 nuclear mRNA splicing, via spliceosome nucleus|ribonucleoprotein complex protein binding|U6 snRNA binding endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1) 8 AAGCCATGAACGAGTATTCAG 0.338000 41 138 0 0 1 0 0 LAMTOR3 8649 broad.mit.edu 37 4 100808471 100808471 + Missense_Mutation SNP C C T TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr4:100808471C>T ENST00000499666.2 - 4 277 c.85G>A c.(85-87)Gga>Aga p.G29R LAMTOR3_ENST00000515100.1_5'UTR|LAMTOR3_ENST00000226522.8_Missense_Mutation_p.G29R NM_001243736.1|NM_021970.3 NP_001230665.1|NP_068805.1 Q9UHA4 LTOR3_HUMAN late endosomal/lysosomal adaptor, MAPK and MTOR activator 3 29 cellular protein localization|cellular response to amino acid stimulus|positive regulation of TOR signaling cascade Ragulator complex protein binding endometrium(1)|large_intestine(1)|lung(1) 3 ACAGGTACTCCATCTCTATCT 0.279000 7 35 0 0 1 0 0 GRK7 131890 broad.mit.edu 37 3 141497261 141497261 + Silent SNP C C T TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr3:141497261C>T ENST00000264952.2 + 1 272 c.135C>T c.(133-135)tgC>tgT p.C45C NM_139209.2 NP_631948.1 Q8WTQ7 GRK7_HUMAN G protein-coupled receptor kinase 7 45 visual perception membrane ATP binding|G-protein coupled receptor kinase activity|signal transducer activity endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 26 TGCAGGGCTGCGCGGAGCTCC 0.687000 12 33 0 0 1 0 0 USP54 159195 broad.mit.edu 37 10 75331188 75331188 + Silent SNP G G A TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr10:75331188G>A ENST00000339859.4 - 3 331 c.231C>T c.(229-231)tgC>tgT p.C77C USP54_ENST00000408019.1_Silent_p.C77C|USP54_ENST00000394811.2_5'UTR|USP54_ENST00000428547.1_Silent_p.C77C|USP54_ENST00000319786.7_Silent_p.C77C Q70EL1 UBP54_HUMAN ubiquitin specific peptidase 54 77 ubiquitin-dependent protein catabolic process protein binding|ubiquitin thiolesterase activity breast(5)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1) 30 Prostate(51;0.0112) CCTTGAGAGCGCAAAAGATGC 0.433000 4 134 0 0 1 0 0 APLNR 187 broad.mit.edu 37 11 57004030 57004030 + Missense_Mutation SNP G G A TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr11:57004030G>A ENST00000606794.1 - 1 645 c.449C>T c.(448-450)aCg>aTg p.T150M NM_005161.4 NP_005152.1 P35414 APJ_HUMAN apelin receptor 150 integral to plasma membrane G-protein coupled receptor activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 32 AAGAACTGCCGTGGCCACGGC 0.647000 5 33 0 0 1 0 0 SFSWAP 6433 broad.mit.edu 37 12 132195869 132195869 + Missense_Mutation SNP G G A TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr12:132195869G>A ENST00000261674.4 + 1 236 c.95G>A c.(94-96)cGa>cAa p.R32Q SFSWAP_ENST00000541286.1_Missense_Mutation_p.R32Q NM_004592.3 NP_004583.2 Q12872 SFSWA_HUMAN splicing factor, suppressor of white-apricot homolog (Drosophila) 32 mRNA splice site selection|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding|RNA binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(8)|ovary(1)|skin(2) 25 GGGGGCAGCCGAGTGGAGCTC 0.697000 8 32 0 0 1 0 0 RAP2B 5912 broad.mit.edu 37 3 152880843 152880843 + Missense_Mutation SNP G G C TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr3:152880843G>C ENST00000323534.2 + 1 815 c.361G>C c.(361-363)Gag>Cag p.E121Q NM_002886.2 NP_002877.2 P61225 RAP2B_HUMAN RAP2B, member of RAS oncogene family 121 Rap protein signal transduction|regulation of protein tyrosine kinase activity recycling endosome membrane GTP binding|GTPase activity NS(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1) 7 LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11) GGTGGACCTGGAGGGTGAGCG 0.627000 43 75 0 0 1 0 0 USH2A 7399 broad.mit.edu 37 1 216369938 216369938 + Missense_Mutation SNP G G A TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr1:216369938G>A ENST00000366943.2 - 19 4594 c.4208C>T c.(4207-4209)tCt>tTt p.S1403F USH2A_ENST00000307340.3_Missense_Mutation_p.S1403F|USH2A_ENST00000366942.3_Missense_Mutation_p.S1403F|RP5-1099E6.3_ENST00000420867.1_RNA O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 1403 Fibronectin type-III 4. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) TGATTGTTCAGAAAGCATATT 0.408000 HNSCC(13;0.011) 39 129 0 0 1 0 0 PYGM 5837 broad.mit.edu 37 11 64519416 64519416 + Missense_Mutation SNP T T A TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr11:64519416T>A ENST00000164139.3 - 14 2146 c.1748A>T c.(1747-1749)cAt>cTt p.H583L PYGM_ENST00000462303.1_5'UTR|PYGM_ENST00000377432.3_Missense_Mutation_p.H495L NM_005609.2 NP_005600.1 P11217 PYGM_HUMAN phosphorylase, glycogen, muscle 583 glucose metabolic process|glycogen catabolic process cytosol glycogen phosphorylase activity|protein binding cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 Pyridoxal Phosphate(DB00114) GGTGATGACATGGAGGCAGTT 0.517000 20 95 0 0 1 0 0 DNAH9 1770 broad.mit.edu 37 17 11738200 11738200 + Silent SNP C C G TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr17:11738200C>G ENST00000262442.3 + 49 9560 c.9492C>G c.(9490-9492)ctC>ctG p.L3164L DNAH9_ENST00000454412.2_Silent_p.L3164L NM_001372.3 NP_001363.2 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 3164 Stalk (By similarity). cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4) 290 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) AGGCAGCTCTCAACACCCTGA 0.572000 4 31 0 0 1 0 0 CHDH 55349 broad.mit.edu 37 3 53852082 53852082 + Missense_Mutation SNP G G A TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr3:53852082G>A ENST00000315251.5 - 9 1944 c.1507C>T c.(1507-1509)Cgg>Tgg p.R503W NM_018397.4 NP_060867.2 Q8NE62 CHDH_HUMAN choline dehydrogenase 503 alcohol metabolic process choline dehydrogenase activity|flavin adenine dinucleotide binding NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1) 17 Hepatocellular(537;0.152) BRCA - Breast invasive adenocarcinoma(193;0.000158)|KIRC - Kidney renal clear cell carcinoma(284;0.00588)|Kidney(284;0.00673)|OV - Ovarian serous cystadenocarcinoma(275;0.118) Choline(DB00122) GCTTTTGCCCGCACAAAGGCA 0.582000 4 141 0 0 1 0 0 SEPHS2 22928 broad.mit.edu 37 16 30456439 30456439 + Missense_Mutation SNP C C T TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr16:30456439C>T ENST00000478753.2 - 1 1063 c.610G>A c.(610-612)Gag>Aag p.E204K SEPHS2_ENST00000542752.1_Missense_Mutation_p.E147K|SEPHS2_ENST00000500504.2_Missense_Mutation_p.E204K Q99611 SPS2_HUMAN selenophosphate synthetase 2 204 selenocysteine biosynthetic process ATP binding|selenide, water dikinase activity breast(3)|cervix(1)|kidney(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1) 10 CCTCCTTCCTCAGCCGCATCC 0.517000 34 106 0 0 1 0 0 PDGFA 5154 broad.mit.edu 37 7 550596 550596 + Silent SNP G G T TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr7:550596G>T ENST00000402802.3 - 4 710 c.303C>A c.(301-303)gtC>gtA p.V101V PDGFA_ENST00000354513.5_Silent_p.V101V NM_033023.4 NP_148983.1 P04085 PDGFA_HUMAN platelet-derived growth factor alpha polypeptide 101 actin cytoskeleton organization|angiogenesis|cell projection assembly|embryo development|hair follicle development|lung alveolus development|negative chemotaxis|negative regulation of phosphatidylinositol biosynthetic process|negative regulation of platelet activation|organ morphogenesis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of DNA replication|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|positive regulation of MAP kinase activity|positive regulation of mesenchymal cell proliferation|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein autophosphorylation|positive regulation of protein kinase B signaling cascade|regulation of actin cytoskeleton organization|regulation of branching involved in salivary gland morphogenesis by epithelial-mesenchymal signaling|regulation of peptidyl-tyrosine phosphorylation|regulation of smooth muscle cell migration|skin development cell surface|endoplasmic reticulum lumen|extracellular space|Golgi membrane|microvillus|platelet alpha granule lumen collagen binding|eukaryotic cell surface binding|growth factor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein heterodimerization activity|protein homodimerization activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 16 Ovarian(82;0.0112) UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|Epithelial(4;1.1e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.7e-17)|all cancers(6;4.89e-15) TCTCGTAAATGACCGTCCTGG 0.667000 3 35 1 1 1 1 0 GAREM 64762 broad.mit.edu 37 18 29867529 29867529 + Missense_Mutation SNP C C A TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr18:29867529C>A ENST00000399218.4 - 4 1086 c.1031G>T c.(1030-1032)cGt>cTt p.R344L RP11-344B2.2_ENST00000579580.1_RNA|GAREM_ENST00000269209.6_Missense_Mutation_p.R344L NM_001242409.1|NM_022751.2 NP_001229338.1|NP_073588.1 GRB2 associated, regulator of MAPK1 TTTCACATCACGGACAGCCCG 0.562000 33 67 4.34311e-12 4.75673e-12 1 1 0 ANKRD17 26057 broad.mit.edu 37 4 73990774 73990774 + Splice_Site SNP A A G TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr4:73990774A>G ENST00000358602.4 - 18 3464 c.3346_splice c.e18-1 p.G1116_splice ANKRD17_ENST00000514252.1_5'UTR|ANKRD17_ENST00000330838.6_Splice_Site_p.G865_splice|ANKRD17_ENST00000509867.2_Splice_Site_p.G1003_splice NM_032217.3 NP_115593.3 O75179 ANR17_HUMAN ankyrin repeat domain 17 1116 interspecies interaction between organisms cytoplasm|nucleus RNA binding NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3) 96 Breast(15;0.000295) Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) GTGGAGTAAAACCTGGAGAAA 0.378000 28 84 0 0 1 0 0 PRDM9 56979 broad.mit.edu 37 5 23526395 23526395 + Missense_Mutation SNP C C G TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr5:23526395C>G ENST00000296682.3 + 11 1380 c.1198C>G c.(1198-1200)Cag>Gag p.Q400E NM_020227.2 NP_064612.2 Q9NQV7 PRDM9_HUMAN PR domain containing 9 400 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 CTTTTCAAGTCAGAAATTTCT 0.473000 HNSCC(3;0.000094) 34 203 0 0 1 0 0 INTS4P1 285905 broad.mit.edu 37 7 64649513 64649513 + RNA SNP C C T TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr7:64649513C>T ENST00000587624.1 + 0 1294 AATTCACCATCAGGTAGGGTA 0.507000 18 51 0 0 1 0 0 AGBL1 123624 broad.mit.edu 37 15 87097594 87097594 + Silent SNP T T C TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr15:87097594T>C ENST00000441037.2 + 20 2777 c.2682T>C c.(2680-2682)acT>acC p.T894T AGBL1_ENST00000389298.3_Silent_p.T625T|AGBL1_ENST00000421325.2_Silent_p.T894T NM_152336.2 NP_689549.2 Q96MI9 CBPC4_HUMAN ATP/GTP binding protein-like 1 894 C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis cytosol metallocarboxypeptidase activity|tubulin binding|zinc ion binding NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 62 TACTGTAGACTCTTCCCAAAA 0.418000 4 7 0 0 1 0 0 CLASRP 11129 broad.mit.edu 37 19 45561076 45561076 + Missense_Mutation SNP C C T TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr19:45561076C>T ENST00000544944.2 + 6 1225 c.533C>T c.(532-534)gCg>gTg p.A178V CLASRP_ENST00000391953.4_Missense_Mutation_p.A116V|CLASRP_ENST00000221455.3_Missense_Mutation_p.A178V Q8N2M8 CLASR_HUMAN CLK4-associating serine/arginine rich protein 178 mRNA processing|RNA splicing nucleus breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|pancreas(2)|prostate(1) 16 GTAGAGAAGGCGGCAGAAAAG 0.612000 27 131 0 0 1 0 0 ADAMTS19 171019 broad.mit.edu 37 5 128862009 128862009 + Missense_Mutation SNP G G A TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr5:128862009G>A ENST00000274487.4 + 4 1073 c.928G>A c.(928-930)Gaa>Aaa p.E310K CTC-575N7.1_ENST00000503616.1_RNA NM_133638.3 NP_598377.3 Q8TE59 ATS19_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 19 310 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6) 91 all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) OV - Ovarian serous cystadenocarcinoma(64;0.222) AAAAATAGCAGAAAGTGGAAG 0.358000 18 57 0 0 1 0 0 FAM98A 25940 broad.mit.edu 37 2 33813507 33813507 + Silent SNP A A G TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr2:33813507A>G ENST00000403368.1 - 4 486 c.417T>C c.(415-417)ggT>ggC p.G139G FAM98A_ENST00000441530.2_Intron|FAM98A_ENST00000498340.1_Intron|FAM98A_ENST00000238823.8_Silent_p.G139G NM_015475.3 NP_056290.3 Q8NCA5 FA98A_HUMAN family with sequence similarity 98, member A 139 NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(1) 24 all_hematologic(175;0.115) AGACCTCACTACCGCCTCCTT 0.413000 41 180 0 0 1 0 0 GOLGA1 2800 broad.mit.edu 37 9 127684082 127684082 + Missense_Mutation SNP C C T TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr9:127684082C>T ENST00000373555.4 - 9 984 c.651G>A c.(649-651)atG>atA p.M217I NM_002077.3 NP_002068.1 Q92805 GOGA1_HUMAN golgin A1 217 Golgi cisterna membrane NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|stomach(1) 20 GATTGGAGTTCATCAACTCCT 0.438000 54 213 0 0 1 0 0 WLS 79971 broad.mit.edu 37 1 68659750 68659750 + Silent SNP G G A TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr1:68659750G>A ENST00000262348.4 - 2 520 c.267C>T c.(265-267)gaC>gaT p.D89D GNG12-AS1_ENST00000413628.1_RNA|GNG12-AS1_ENST00000420587.1_RNA|WLS_ENST00000540432.1_Silent_p.D89D|WLS_ENST00000370976.3_Intron|WLS_ENST00000354777.2_Silent_p.D87D|WLS_ENST00000370971.1_Silent_p.D89D NM_024911.6 NP_079187.3 Q5T9L3 WLS_HUMAN wntless Wnt ligand secretion mediator 89 multicellular organismal development|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|Wnt receptor signaling pathway cytoplasmic vesicle membrane|Golgi membrane|integral to membrane signal transducer activity breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(4)|prostate(3)|urinary_tract(1) 20 AAAACACGATGTCATTGGCTT 0.463000 18 86 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179400544 179400544 + Nonsense_Mutation SNP C C A TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr2:179400544C>A ENST00000589042.1 - 358 101022 c.100798G>T c.(100798-100800)Gaa>Taa p.E33600* TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Nonsense_Mutation_p.E24727*|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Nonsense_Mutation_p.E31959*|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.E31032*|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN_ENST00000359218.5_Nonsense_Mutation_p.E24660*|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN_ENST00000460472.2_Nonsense_Mutation_p.E24535* NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 31959 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CCCATGCCTTCAAGAGTTTTA 0.393000 3 60 0.115264 0.115767 1 1 0 PPP2R1A 5518 broad.mit.edu 37 19 52709301 52709301 + Silent SNP C C T TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr19:52709301C>T ENST00000322088.6 + 3 313 c.255C>T c.(253-255)taC>taT p.Y85Y PPP2R1A_ENST00000473455.2_3'UTR|PPP2R1A_ENST00000462990.1_5'UTR|PPP2R1A_ENST00000444322.2_Intron NM_014225.5 NP_055040.2 P30153 2AAA_HUMAN protein phosphatase 2, regulatory subunit A, alpha 85 PP2A subunit B binding.|Polyoma small and medium T antigens Binding.|SV40 small T antigen binding. ceramide metabolic process|chromosome segregation|G2/M transition of mitotic cell cycle|inactivation of MAPK activity|induction of apoptosis|negative regulation of cell growth|negative regulation of tyrosine phosphorylation of Stat3 protein|protein complex assembly|protein dephosphorylation|regulation of cell adhesion|regulation of cell differentiation|regulation of DNA replication|regulation of transcription, DNA-dependent|regulation of Wnt receptor signaling pathway|response to organic substance|RNA splicing|second-messenger-mediated signaling chromosome, centromeric region|cytosol|membrane|microtubule cytoskeleton|mitochondrion|nucleus|protein phosphatase type 2A complex|soluble fraction antigen binding|protein heterodimerization activity|protein phosphatase type 2A regulator activity NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1) 135 GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015) GCCCAGAGTACGTGCACTGCC 0.612000 Mis clear cell ovarian carcinoma 26 118 0 0 1 0 0 SLC8A2 6543 broad.mit.edu 37 19 47935484 47935484 + Missense_Mutation SNP C C T TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr19:47935484C>T ENST00000236877.6 - 9 2724 c.2329G>A c.(2329-2331)Gtt>Att p.V777I SLC8A2_ENST00000542837.1_Missense_Mutation_p.V533I|SLC8A2_ENST00000539381.1_Missense_Mutation_p.V240I NM_015063.2 NP_055878.1 Q9UPR5 NAC2_HUMAN solute carrier family 8 (sodium/calcium exchanger), member 2 777 cell communication|platelet activation integral to membrane|plasma membrane calcium:sodium antiporter activity|calmodulin binding breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1) 31 all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173) OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457) TTGAGGCCAACGGTGCAGCCG 0.607000 14 89 0 0 1 0 0 ADAMTS12 81792 broad.mit.edu 37 5 33649669 33649669 + Missense_Mutation SNP G G A TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr5:33649669G>A ENST00000504830.1 - 8 1659 c.1324C>T c.(1324-1326)Cgc>Tgc p.R442C ADAMTS12_ENST00000352040.3_Missense_Mutation_p.R442C|ADAMTS12_ENST00000504582.1_5'UTR NM_030955.2 NP_112217.2 P58397 ATS12_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 12 442 Peptidase M12B. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5) 216 TCCAAGAAGCGGGTGATGTAC 0.532000 HNSCC(64;0.19) 9 132 0 0 1 0 0 CHD4 1108 broad.mit.edu 37 12 6691446 6691446 + Splice_Site SNP C C T TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr12:6691446C>T ENST00000309577.6 - 29 4619 c.4454_splice c.e29-1 p.A1486_splice RP5-940J5.6_ENST00000501075.2_RNA|CHD4_ENST00000544040.1_Splice_Site_p.A1451_splice|CHD4_ENST00000357008.2_Splice_Site_p.A1458_splice|CHD4_ENST00000544484.1_Splice_Site_p.A1483_splice|CHD4_ENST00000540960.1_5'UTR Q14839 CHD4_HUMAN chromodomain helicase DNA binding protein 4 1458 chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent microtubule organizing center|NuRD complex ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding central_nervous_system(2) 2 GAGACATATGCCCTGTGTAAA 0.488000 21 70 0 0 1 0 0 NUP188 23511 broad.mit.edu 37 9 131745261 131745261 + Missense_Mutation SNP G G C TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr9:131745261G>C ENST00000372577.2 + 17 1771 c.1750G>C c.(1750-1752)Gac>Cac p.D584H NM_015354.1 NP_056169.1 Q5SRE5 NU188_HUMAN nucleoporin 188kDa 584 carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction nuclear pore protein binding breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 60 GTCGATAGCAGACTGTCTCCT 0.522000 50 186 0 0 1 0 0 ZNF592 9640 broad.mit.edu 37 15 85341666 85341666 + Silent SNP C C G TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr15:85341666C>G ENST00000299927.3 + 4 2719 c.2697C>G c.(2695-2697)ctC>ctG p.L899L ZNF592_ENST00000560079.2_Silent_p.L899L Q92610 ZN592_HUMAN zinc finger protein 592 899 cell death|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(2)|kidney(1)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1) 40 BRCA - Breast invasive adenocarcinoma(143;0.0587) AGTGCCCACTCTTGTTCGTGC 0.567000 29 60 0 0 1 0 0 EQTN 54586 broad.mit.edu 37 9 27286284 27286284 + Missense_Mutation SNP G G C TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr9:27286284G>C ENST00000380032.3 - 7 641 c.558C>G c.(556-558)atC>atG p.I186M EQTN_ENST00000537675.1_Missense_Mutation_p.I157M NM_020641.2 NP_065692.2 equatorin, sperm acrosome associated TCATCAACGAGATTCCCAGCA 0.458000 7 20 0 0 1 0 0 HSD17B7P2 158160 broad.mit.edu 37 10 38654432 38654432 + RNA SNP A A G rs2257765 TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr10:38654432A>G ENST00000494540.1 + 0 599 NR_003086.1 TCATCTCGCAATGCAAGGAAA 0.453000 4 101 0 0 1 0 0 C9orf9 11092 broad.mit.edu 37 9 135759439 135759439 + Missense_Mutation SNP C C A rs140311024 by1000genomes TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr9:135759439C>A ENST00000372136.3 + 2 552 c.105C>A c.(103-105)aaC>aaA p.N35K C9orf9_ENST00000356311.5_Missense_Mutation_p.N35K|C9orf9_ENST00000350499.6_Missense_Mutation_p.N35K Q96E40 CI009_HUMAN chromosome 9 open reading frame 9 35 p.?(1) cervix(1)|large_intestine(1)|lung(1)|prostate(1) 4 OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|GBM - Glioblastoma multiforme(294;4.84e-07)|Epithelial(140;1.28e-06) GCAGGGAGAACGCCCACGACA 0.617000 3 72 0.115264 0.115767 1 1 0 TGDS 23483 broad.mit.edu 37 13 95233394 95233394 + Missense_Mutation SNP G G C TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr13:95233394G>C ENST00000261296.5 - 6 626 c.506C>G c.(505-507)tCt>tGt p.S169C TGDS_ENST00000498294.1_5'UTR NM_014305.2 NP_055120.1 O95455 TGDS_HUMAN TDP-glucose 4,6-dehydratase 169 cellular metabolic process coenzyme binding|dTDP-glucose 4,6-dehydratase activity|protein binding endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1) 8 all_neural(89;0.0684)|Medulloblastoma(90;0.163) AGCTGCTTTAGATGATGCATA 0.299000 16 77 0 0 1 0 0 WBP11P1 441818 broad.mit.edu 37 18 30092779 30092779 + RNA SNP C C T TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr18:30092779C>T ENST00000567636.1 + 0 1154 NR_003558.1 ACTGACTCCTCTTCAAGCCAC 0.433000 15 32 0 0 1 0 0 WDR90 197335 broad.mit.edu 37 16 716485 716485 + Silent SNP C C T TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr16:716485C>T ENST00000549091.1 + 38 4869 c.4777C>T c.(4777-4779)Cta>Tta p.L1593L WDR90_ENST00000315764.4_Intron|WDR90_ENST00000293879.4_Silent_p.L1591L|WDR90_ENST00000547543.1_3'UTR|WDR90_ENST00000547944.1_Silent_p.L190L NM_145294.4 NP_660337.3 Q96KV7 WDR90_HUMAN WD repeat domain 90 1591 p.L1591V(1) endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2) 37 Hepatocellular(780;0.0218) GGGCACAGACCTATGGCTGGC 0.632000 13 36 0 0 1 0 0 MRPL9 65005 broad.mit.edu 37 1 151732598 151732598 + Missense_Mutation SNP C C A TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr1:151732598C>A ENST00000368830.3 - 7 816 c.732G>T c.(730-732)aaG>aaT p.K244N MRPL9_ENST00000467306.1_5'UTR|MRPL9_ENST00000368829.3_Missense_Mutation_p.K210N NM_031420.2 NP_113608.1 Q9BYD2 RM09_HUMAN mitochondrial ribosomal protein L9 244 translation mitochondrial ribosome structural constituent of ribosome endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 12 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14) LUSC - Lung squamous cell carcinoma(543;0.181) ATCTTTTGGTCTTGGGCTTCT 0.493000 25 70 1.64293e-13 1.80801e-13 1 1 0 POLRMT 5442 broad.mit.edu 37 19 618526 618526 + Missense_Mutation SNP G G T TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr19:618526G>T ENST00000588649.2 - 17 3468 c.3384C>A c.(3382-3384)gaC>gaA p.D1128E NM_005035.3 NP_005026.3 O00411 RPOM_HUMAN polymerase (RNA) mitochondrial (DNA directed) 1128 Mediates interaction with TEFM. transcription initiation from mitochondrial promoter mitochondrial nucleoid DNA binding|DNA-directed RNA polymerase activity|protein binding cervix(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)|prostate(1)|stomach(1) 20 all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228) 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) TGTGGGAGGAGTCCAGCGAGT 0.662000 11 30 6.40141e-05 6.69238e-05 1 1 0 PLEKHM2 23207 broad.mit.edu 37 1 16046258 16046258 + Silent SNP C C T TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr1:16046258C>T ENST00000375799.3 + 6 722 c.495C>T c.(493-495)taC>taT p.Y165Y PLEKHM2_ENST00000375793.2_Silent_p.Y165Y NM_015164.2 NP_055979.2 Q8IWE5 PKHM2_HUMAN pleckstrin homology domain containing, family M (with RUN domain) member 2 165 Interaction with KIF5B. Golgi organization cytoplasm kinesin binding cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1) 12 Colorectal(325;0.000259)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00057)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657) TGGCCCCCTACATGCCCGACT 0.587000 14 83 0 0 1 0 0 MED14 9282 broad.mit.edu 37 X 40522377 40522377 + Missense_Mutation SNP G G A TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chrX:40522377G>A ENST00000324817.1 - 26 3602 c.3484C>T c.(3484-3486)Cgt>Tgt p.R1162C NM_004229.3 NP_004220.2 O60244 MED14_HUMAN mediator complex subunit 14 1162 Pro-rich. androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding NS(2)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 GGTAGTTTACGAGGTGGAGGC 0.453000 10 10 0 0 1 0 0 CASP6 839 broad.mit.edu 37 4 110612108 110612108 + Nonsense_Mutation SNP G G A TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr4:110612108G>A ENST00000265164.2 - 6 618 c.541C>T c.(541-543)Cag>Tag p.Q181* CASP6_ENST00000352981.3_Nonsense_Mutation_p.Q92*|CASP6_ENST00000510324.1_5'UTR NM_001226.3 NP_001217.2 P55212 CASP6_HUMAN caspase 6, apoptosis-related cysteine peptidase 181 cellular component disassembly involved in apoptosis|induction of apoptosis|proteolysis cytosol|nucleoplasm cysteine-type endopeptidase activity|protein binding breast(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|upper_aerodigestive_tract(1) 8 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.000171) TTCTCTGTCTGATTATCTACT 0.488000 24 84 0 0 1 0 0 KCNJ2 3759 broad.mit.edu 37 17 68171901 68171901 + Missense_Mutation SNP G G A TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr17:68171901G>A ENST00000243457.3 + 2 1104 c.721G>A c.(721-723)Gag>Aag p.E241K KCNJ2_ENST00000535240.1_Missense_Mutation_p.E241K NM_000891.2 NP_000882.1 P63252 IRK2_HUMAN potassium inwardly-rectifying channel, subfamily J, member 2 241 synaptic transmission integral to plasma membrane inward rectifier potassium channel activity|protein binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(13)|skin(1)|urinary_tract(1) 25 Breast(10;1.64e-08) TTCTGAAGGGGAGTATATCCC 0.448000 33 87 0 0 1 0 0 CNOT1 23019 broad.mit.edu 37 16 58608533 58608533 + Silent SNP G G C TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr16:58608533G>C ENST00000317147.5 - 16 2291 c.1959C>G c.(1957-1959)gcC>gcG p.A653A CNOT1_ENST00000441024.2_Silent_p.A653A|CNOT1_ENST00000569240.1_Silent_p.A653A NM_001265612.1|NM_016284.4 NP_001252541.1|NP_057368.3 A5YKK6 CNOT1_HUMAN CCR4-NOT transcription complex, subunit 1 653 nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic mRNA processing body|cytosol breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2) 87 Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239) CTTGCAGACAGGCCAACATTG 0.423000 32 105 0 0 1 0 0 WHAMM 123720 broad.mit.edu 37 15 83495204 83495204 + Missense_Mutation SNP G G A TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr15:83495204G>A ENST00000286760.4 + 7 1600 c.1501G>A c.(1501-1503)Gaa>Aaa p.E501K NM_001080435.1 NP_001073904.1 Q8TF30 WHAMM_HUMAN WAS protein homolog associated with actin, golgi membranes and microtubules 501 cytoplasmic vesicle membrane|ER-Golgi intermediate compartment|Golgi apparatus actin binding endometrium(6)|large_intestine(5)|lung(1)|prostate(1) 13 GCAACAGGCTGAAGAAAGCAT 0.408000 37 133 0 0 1 0 0 SERPINB6 5269 broad.mit.edu 37 6 2948610 2948610 + Silent SNP G G A TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr6:2948610G>A ENST00000380520.1 - 6 3047 c.1053C>T c.(1051-1053)gcC>gcT p.A351A SERPINB6_ENST00000380539.1_Silent_p.A351A|SERPINB6_ENST00000380529.1_Silent_p.A351A|SERPINB6_ENST00000380546.3_Silent_p.A351A|SERPINB6_ENST00000335686.5_Silent_p.A351A|SERPINB6_ENST00000380524.1_Silent_p.A351A P35237 SPB6_HUMAN serpin peptidase inhibitor, clade B (ovalbumin), member 6 351 regulation of proteolysis centrosome|cytosol|protein complex protease binding|serine-type endopeptidase inhibitor activity breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|stomach(1)|upper_aerodigestive_tract(2) 17 Ovarian(93;0.0412) all_hematologic(90;0.0895) Drotrecogin alfa(DB00055) AGGGGTGGTCGGCGCAGAAGC 0.587000 13 58 0 0 1 0 0 VWCE 220001 broad.mit.edu 37 11 61039224 61039224 + Missense_Mutation SNP G G C TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr11:61039224G>C ENST00000335613.5 - 14 2094 c.1708C>G c.(1708-1710)Ctt>Gtt p.L570V VWCE_ENST00000535710.1_Missense_Mutation_p.L35V NM_152718.2 NP_689931.2 Q96DN2 VWCE_HUMAN von Willebrand factor C and EGF domains 570 VWFC 4. extracellular region calcium ion binding biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 37 TTGTCGTCAAGAGAGCAGCCT 0.532000 2 16 0 0 1 0 0 RBM26 64062 broad.mit.edu 37 13 79933752 79933752 + Missense_Mutation SNP G G A TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr13:79933752G>A ENST00000438737.2 - 10 1927 c.1487C>T c.(1486-1488)tCt>tTt p.S496F RBM26_ENST00000438724.1_Missense_Mutation_p.S496F|RBM26_ENST00000267229.7_Missense_Mutation_p.S496F Q5T8P6 RBM26_HUMAN RNA binding motif protein 26 496 mRNA processing nucleotide binding|protein binding|RNA binding|zinc ion binding NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 33 Acute lymphoblastic leukemia(28;0.0279) GBM - Glioblastoma multiforme(99;0.0188) AGGCTCTCCAGAACCAATGGT 0.363000 70 202 0 0 1 0 0 FRS3 10817 broad.mit.edu 37 6 41738550 41738550 + Missense_Mutation SNP C C T TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr6:41738550C>T ENST00000373018.3 - 7 1537 c.1286G>A c.(1285-1287)cGc>cAc p.R429H FRS3_ENST00000259748.2_Missense_Mutation_p.R429H NM_006653.3 NP_006644.1 O43559 FRS3_HUMAN fibroblast growth factor receptor substrate 3 429 fibroblast growth factor receptor signaling pathway plasma membrane fibroblast growth factor receptor binding|insulin receptor binding breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 Ovarian(28;0.0355)|Colorectal(47;0.121) Epithelial(12;8.38e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152) CCCCTTAGGGCGGTCTCCACC 0.637000 6 74 0 0 1 0 0 OR2W3 343171 broad.mit.edu 37 1 248059077 248059077 + Silent SNP C C T TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr1:248059077C>T ENST00000537741.1 + 3 446 c.189C>T c.(187-189)ctC>ctT p.L63L OR2W3_ENST00000360358.3_Silent_p.L63L Q7Z3T1 OR2W3_HUMAN olfactory receptor, family 2, subfamily W, member 3 63 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.L63L(1) breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3) 49 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0319) ACTTCTTCCTCGCCCACCTTT 0.572000 49 261 0 0 1 0 0 CBX3 11335 broad.mit.edu 37 7 26251377 26251377 + Splice_Site SNP G G C TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr7:26251377G>C ENST00000337620.4 + 5 853 c.e5+1 CBX3_ENST00000396386.2_Splice_Site|CBX3_ENST00000409747.1_Splice_Site NM_007276.4 NP_009207.2 Q13185 CBX3_HUMAN chromobox homolog 3 chromatin remodeling|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent condensed chromosome, centromeric region|nuclear centromeric heterochromatin|nuclear euchromatin|nuclear inner membrane|spindle enzyme binding|protein domain specific binding endometrium(4)|large_intestine(2)|lung(2)|ovary(1) 9 TCATGAAATGGTGAGTATGCA 0.368000 21 62 0 0 1 0 0 TRAV21 28662 broad.mit.edu 37 14 22521054 22521054 + RNA SNP G G A TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr14:22521054G>A ENST00000390449.3 + 0 82 AGGTGACGCAGATTCCTGCAG 0.433000 30 141 0 0 1 0 0 CCDC67 159989 broad.mit.edu 37 11 93148192 93148192 + Missense_Mutation SNP G G A TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr11:93148192G>A ENST00000298050.3 + 13 1650 c.1550G>A c.(1549-1551)aGa>aAa p.R517K CCDC67_ENST00000525646.1_Missense_Mutation_p.R259K NM_181645.3 NP_857596.2 Q05D60 CCD67_HUMAN coiled-coil domain containing 67 517 endometrium(3)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 Acute lymphoblastic leukemia(157;2.35e-05)|all_hematologic(158;0.00824) GAGCCAAACAGAAGTACAATG 0.398000 91 113 0 0 1 0 0 PACS2 23241 broad.mit.edu 37 14 105850745 105850745 + Missense_Mutation SNP C C G TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr14:105850745C>G ENST00000447393.1 + 17 2011 c.1836C>G c.(1834-1836)ttC>ttG p.F612L PACS2_ENST00000551743.1_Missense_Mutation_p.F122L|PACS2_ENST00000547217.1_Missense_Mutation_p.F578L|PACS2_ENST00000458164.2_Missense_Mutation_p.F612L|PACS2_ENST00000325438.8_Missense_Mutation_p.F608L|PACS2_ENST00000430725.2_Missense_Mutation_p.F533L NM_015197.3 NP_056012.2 Q86VP3 PACS2_HUMAN phosphofurin acidic cluster sorting protein 2 608 apoptosis|interspecies interaction between organisms endoplasmic reticulum lumen|mitochondrion endometrium(2)|kidney(2)|lung(7)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1) 21 all_cancers(154;0.0351)|all_epithelial(191;0.153)|Melanoma(154;0.155) OV - Ovarian serous cystadenocarcinoma(23;0.0145)|Epithelial(46;0.036) Epithelial(152;0.138) ACAACAACTTCTTCCAGGACC 0.677000 12 35 0 0 1 0 0 POLL 27343 broad.mit.edu 37 10 103344516 103344516 + Nonsense_Mutation SNP G G C TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr10:103344516G>C ENST00000370162.3 - 5 1228 c.734C>G c.(733-735)tCa>tGa p.S245* POLL_ENST00000370172.1_Nonsense_Mutation_p.S157*|POLL_ENST00000339310.3_Intron|POLL_ENST00000299206.4_Nonsense_Mutation_p.S245*|POLL_ENST00000370158.3_Intron|POLL_ENST00000456836.2_Intron|POLL_ENST00000436284.2_Missense_Mutation_p.Q103E|DPCD_ENST00000416979.2_Intron|POLL_ENST00000370169.1_Nonsense_Mutation_p.S245*|DPCD_ENST00000470165.1_Intron NM_001174084.1|NM_001174085.1|NM_013274.3 NP_001167555.1|NP_001167556.1|NP_037406.1 Q9UGP5 DPOLL_HUMAN polymerase (DNA directed), lambda 245 DNA replication|nucleotide-excision repair|somatic hypermutation of immunoglobulin genes nucleus DNA binding|DNA-directed DNA polymerase activity|lyase activity|metal ion binding biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(2) 19 Colorectal(252;0.234) Epithelial(162;1.55e-08)|all cancers(201;6.64e-07) CTTCTGGCTTGAGGGCTGTGC 0.582000 DNA polymerases (catalytic subunits) 26 66 0 0 1 0 0 TMEM150B 284417 broad.mit.edu 37 19 55824413 55824413 + Silent SNP G G A TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr19:55824413G>A ENST00000326652.4 - 8 698 c.516C>T c.(514-516)ctC>ctT p.L172L TMEM150B_ENST00000438693.1_Silent_p.L172L A6NC51 T150B_HUMAN transmembrane protein 150B 172 integral to membrane endometrium(1)|large_intestine(1)|lung(1) 3 AGCAGGCGTGGAGGACGATCA 0.687000 5 15 0 0 1 0 0 GLYR1 84656 broad.mit.edu 37 16 4863755 4863755 + Missense_Mutation SNP C C T TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr16:4863755C>T ENST00000321919.9 - 12 1178 c.1102G>A c.(1102-1104)Gtc>Atc p.V368I GLYR1_ENST00000381983.3_Missense_Mutation_p.V351I|GLYR1_ENST00000436648.5_Missense_Mutation_p.V287I|GLYR1_ENST00000591451.1_Missense_Mutation_p.V362I NM_032569.3 NP_115958.2 Q49A26 GLYR1_HUMAN glyoxylate reductase 1 homolog (Arabidopsis) 368 pentose-phosphate shunt nucleus coenzyme binding|DNA binding|methylated histone residue binding|phosphogluconate dehydrogenase (decarboxylating) activity endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|skin(1)|urinary_tract(1) 19 AGCTCAGTGACGGTGTCAGCG 0.592000 6 29 0 0 1 0 0 GABBR1 2550 broad.mit.edu 37 6 29591083 29591083 + Splice_Site SNP G G A TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr6:29591083G>A ENST00000377034.4 - 8 1297 c.963_splice c.e8+1 p.S321_splice GABBR1_ENST00000377012.4_Splice_Site_p.S204_splice|GABBR1_ENST00000355973.3_Splice_Site_p.S204_splice|GABBR1_ENST00000376977.3_Splice_Site_p.S321_splice|GABBR1_ENST00000377016.4_Splice_Site_p.S259_splice NM_001470.2 NP_001461.1 Q9UBS5 GABR1_HUMAN gamma-aminobutyric acid (GABA) B receptor, 1 321 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 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) CCTCCTCACCGAAGTGAAGAC 0.517000 13 50 0 0 1 0 0 NAGLU 4669 broad.mit.edu 37 17 40689478 40689478 + Missense_Mutation SNP G G A TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr17:40689478G>A ENST00000225927.2 + 2 547 c.446G>A c.(445-447)cGc>cAc p.R149H RP11-400F19.8_ENST00000585572.1_RNA NM_000263.3 NP_000254.2 P54802 ANAG_HUMAN N-acetylglucosaminidase, alpha 149 lysosome alpha-N-acetylglucosaminidase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(1)|ovary(2)|skin(1) 12 all_cancers(22;1.58e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344) BRCA - Breast invasive adenocarcinoma(366;0.13) N-Acetyl-D-glucosamine(DB00141) GACTGGGCCCGCTGGGAGCGA 0.627000 4 133 0 0 1 0 0 HNRNPA2B1 3181 broad.mit.edu 37 7 26232925 26232925 + Missense_Mutation SNP T T C TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr7:26232925T>C ENST00000354667.4 - 10 1114 c.946A>G c.(946-948)Atg>Gtg p.M316V HNRNPA2B1_ENST00000356674.7_Missense_Mutation_p.M304V NM_031243.2 NP_112533.1 P22626 ROA2_HUMAN heterogeneous nuclear ribonucleoprotein A2/B1 316 Gly-rich.|Nuclear targeting sequence (By similarity). RNA transport catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm nucleotide binding|protein binding|RNA binding|single-stranded telomeric DNA binding HNRNPA2B1/ETV1(8) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 22 CCACTCTTCATTGGACCGTAG 0.343000 T ETV1 prostate 4 176 0 0 1 0 0 EFCAB13 124989 broad.mit.edu 37 17 45422422 45422422 + Missense_Mutation SNP G G A TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr17:45422422G>A ENST00000331493.2 + 8 886 c.475G>A c.(475-477)Gat>Aat p.D159N EFCAB13_ENST00000517484.1_Missense_Mutation_p.D159N NM_152347.4 NP_689560.3 EF-hand calcium binding domain 13 GACATTATATGATGAAGTAAC 0.313000 48 175 0 0 1 0 0 RHOBTB1 9886 broad.mit.edu 37 10 62670718 62670718 + Missense_Mutation SNP C C T TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr10:62670718C>T ENST00000337910.5 - 4 560 c.223G>A c.(223-225)Gaa>Aaa p.E75K RHOBTB1_ENST00000357917.4_Missense_Mutation_p.E75K NM_001242359.1|NM_014836.4 NP_001229288.1|NP_055651.1 O94844 RHBT1_HUMAN Rho-related BTB domain containing 1 75 Rho-like. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|plasma membrane GTP binding endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|upper_aerodigestive_tract(1) 23 Prostate(12;0.0112) ACACTCACTTCATCAACAACA 0.488000 17 75 0 0 1 0 0 TFG 10342 broad.mit.edu 37 3 100463729 100463729 + Silent SNP G G A TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr3:100463729G>A ENST00000240851.4 + 7 1114 c.774G>A c.(772-774)ccG>ccA p.P258P TFG_ENST00000490574.1_Silent_p.P258P|TFG_ENST00000418917.2_Silent_p.P254P|TFG_ENST00000481203.1_3'UTR|TFG_ENST00000476228.1_Silent_p.P254P NM_001195478.1|NM_001195479.1|NM_006070.5 NP_001182407.1|NP_001182408.1|NP_006061.2 Q92734 TFG_HUMAN TRK-fused gene 258 positive regulation of I-kappaB kinase/NF-kappaB cascade cytoplasm signal transducer activity TFG/NR4A3(2)|TFG/NTRK1_ENST00000392302(5)|TFG/ALK(9) large_intestine(4)|lung(2)|prostate(1)|stomach(1) 8 CACAGCAGCCGCAGGCTCCAC 0.468000 T """NTRK1, ALK""" """papillary thyroid, ALCL, NSCLC""" 19 104 0 0 1 0 0 HGFAC 3083 broad.mit.edu 37 4 3444828 3444828 + Missense_Mutation SNP G G A TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr4:3444828G>A ENST00000382774.3 + 3 465 c.350G>A c.(349-351)cGc>cAc p.R117H HGFAC_ENST00000511533.1_Missense_Mutation_p.R117H NM_001528.2 NP_001519.1 Q04756 HGFA_HUMAN HGF activator 117 Fibronectin type-II. proteolysis extracellular space protein binding|serine-type endopeptidase activity central_nervous_system(3)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)|urinary_tract(2) 22 UCEC - Uterine corpus endometrioid carcinoma (64;0.163) TACGGGGGCCGCATGCTGCAT 0.721000 3 16 0 0 1 0 0 HSPA4 3308 broad.mit.edu 37 5 132400683 132400683 + Missense_Mutation SNP C C G TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr5:132400683C>G ENST00000304858.2 + 2 408 c.119C>G c.(118-120)tCt>tGt p.S40C NM_002154.3 NP_002145.3 P34932 HSP74_HUMAN heat shock 70kDa protein 4 40 cellular chaperone-mediated protein complex assembly|protein import into mitochondrial outer membrane|response to unfolded protein cytoplasm|nucleus ATP binding NS(2)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|stomach(1) 32 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) GCTTGCATTTCTTTTGGTCCT 0.343000 33 161 0 0 1 0 0 ARNT 405 broad.mit.edu 37 1 150808789 150808789 + Missense_Mutation SNP C C T TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr1:150808789C>T ENST00000358595.5 - 7 867 c.667G>A c.(667-669)Gag>Aag p.E223K ARNT_ENST00000515192.1_Missense_Mutation_p.E214K|ARNT_ENST00000505755.1_Missense_Mutation_p.E208K|ARNT_ENST00000468970.1_5'UTR|ARNT_ENST00000354396.2_Missense_Mutation_p.E223K NM_001197325.1|NM_001668.3|NM_178427.2 NP_001184254.1|NP_001659.1|NP_848514.1 P27540 ARNT_HUMAN aryl hydrocarbon receptor nuclear translocator 223 PAS 1. positive regulation of hormone biosynthetic process|positive regulation vascular endothelial growth factor production|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|response to hypoxia aryl hydrocarbon receptor binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|prostate(2)|skin(4)|stomach(1) 34 all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.02)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211) GAAAGCTGCTCACGAAGTTTA 0.448000 T ETV6 AML 28 84 0 0 1 0 0 WHSC1 7468 broad.mit.edu 37 4 1976646 1976646 + Missense_Mutation SNP C C A TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr4:1976646C>A ENST00000382895.3 + 21 3860 c.3429C>A c.(3427-3429)agC>agA p.S1143R WHSC1_ENST00000482415.2_3'UTR|WHSC1_ENST00000382892.2_Missense_Mutation_p.S1143R|WHSC1_ENST00000382888.3_Missense_Mutation_p.S491R|WHSC1_ENST00000382891.5_Missense_Mutation_p.S1143R|WHSC1_ENST00000508803.1_Missense_Mutation_p.S1143R NM_133330.2 NP_579877.1 O96028 NSD2_HUMAN Wolf-Hirschhorn syndrome candidate 1 1143 SET. anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|cytoplasm|nuclear membrane|nucleolus DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3) 48 all_epithelial(65;1.34e-05) OV - Ovarian serous cystadenocarcinoma(23;0.00606) STAD - Stomach adenocarcinoma(129;0.232) TGAATCACAGCTGCCAGCCCA 0.507000 T IGH@ MM 53 109 1.77205e-36 1.96894e-36 1 1 0 DAB2 1601 broad.mit.edu 37 5 39392478 39392478 + Missense_Mutation SNP C C T TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr5:39392478C>T ENST00000320816.6 - 4 786 c.319G>A c.(319-321)Gag>Aag p.E107K DAB2_ENST00000509337.1_Missense_Mutation_p.E107K|DAB2_ENST00000512525.1_5'UTR|DAB2_ENST00000545653.1_Missense_Mutation_p.E107K|DAB2_ENST00000339788.6_Missense_Mutation_p.E107K NM_001343.3 NP_001334.2 P98082 DAB2_HUMAN Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila) 107 PID. cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway clathrin coated vesicle membrane|coated pit protein C-terminus binding autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(9)|lung(19)|prostate(2)|skin(4)|upper_aerodigestive_tract(2) 47 all_lung(31;0.000197) Epithelial(62;0.137) CCAGTTTTCTCATCAATTATT 0.463000 21 118 0 0 1 0 0 HSF1 3297 broad.mit.edu 37 8 145533469 145533469 + Silent SNP G G A TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr8:145533469G>A ENST00000528838.1 + 4 535 c.375G>A c.(373-375)ctG>ctA p.L125L HSF1_ENST00000400780.4_Silent_p.L60L NM_005526.2 NP_005517.1 Q00613 HSF1_HUMAN heat shock transcription factor 1 125 cytoplasm protein binding|sequence-specific DNA binding transcription factor activity endometrium(1)|large_intestine(1)|lung(3)|prostate(3)|skin(1)|urinary_tract(2) 11 all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;1.12e-39)|all cancers(56;9.11e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0547)|Colorectal(110;0.055) TGTCCACCCTGAAGAGTGAAG 0.597000 18 117 0 0 1 0 0 ZIM3 114026 broad.mit.edu 37 19 57646830 57646830 + Nonsense_Mutation SNP G G C TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr19:57646830G>C ENST00000269834.1 - 5 1260 c.875C>G c.(874-876)tCa>tGa p.S292* NM_052882.1 NP_443114.1 Q96PE6 ZIM3_HUMAN zinc finger, imprinted 3 292 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1) 52 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) AATGAGGGTTGAGTTCTGCCT 0.378000 118 195 0 0 1 0 0 ATN1 1822 broad.mit.edu 37 12 7045557 7045557 + Missense_Mutation SNP C C T TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr12:7045557C>T ENST00000356654.4 + 5 1364 c.1127C>T c.(1126-1128)tCa>tTa p.S376L ATN1_ENST00000396684.2_Missense_Mutation_p.S376L NM_001007026.1 NP_001007027.1 P54259 ATN1_HUMAN atrophin 1 376 Poly-Ser. cell death|central nervous system development cytoplasm|nucleus protein domain specific binding breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 40 TTTCCTTATTCATCCTCTAGT 0.602000 44 134 0 0 1 0 0 SLC35G6 643664 broad.mit.edu 37 17 7386198 7386198 + Missense_Mutation SNP T T A TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr17:7386198T>A ENST00000412468.2 + 2 1010 c.895T>A c.(895-897)Tat>Aat p.Y299N ZBTB4_ENST00000311403.4_Intron NM_001102614.1 NP_001096084.1 P0C7Q6 AMCL3_HUMAN solute carrier family 35, member G6 299 DUF6 2. integral to membrane ACTGCAGTATTATATGCTCCA 0.577000 55 170 0 0 1 0 0 KIF18A 81930 broad.mit.edu 37 11 28104463 28104463 + Missense_Mutation SNP G G C TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr11:28104463G>C ENST00000263181.6 - 9 1492 c.1202C>G c.(1201-1203)aCt>aGt p.T401S NM_031217.3 NP_112494.3 Q8NI77 KI18A_HUMAN kinesin family member 18A 401 blood coagulation|microtubule depolymerization|microtubule-based movement|mitotic metaphase plate congression|mitotic prometaphase|protein transport caveola|cytosol|kinetochore microtubule|microtubule organizing center|nucleus|ruffle actin binding|ATP binding|microtubule plus-end binding|plus-end-directed microtubule motor activity|tubulin-dependent ATPase activity|ubiquitin binding breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2) 36 ATTTTCATTAGTGAAGGCTTT 0.279000 23 75 0 0 1 0 0 MCM9 254394 broad.mit.edu 37 6 119245170 119245170 + Missense_Mutation SNP G G A TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr6:119245170G>A ENST00000316316.6 - 3 713 c.427C>T c.(427-429)Cgg>Tgg p.R143W MCM9_ENST00000316068.3_Missense_Mutation_p.R143W NM_017696.2 NP_060166.2 Q9NXL9 MCM9_HUMAN minichromosome maintenance complex component 9 143 DNA replication ATP binding|DNA binding|nucleoside-triphosphatase activity cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 all_cancers(87;0.122)|all_epithelial(87;0.179) GBM - Glioblastoma multiforme(226;0.0676)|OV - Ovarian serous cystadenocarcinoma(136;0.194) ATGTAATCCCGCTCAAACTCC 0.468000 5 350 0 0 1 0 0 CCDC114 93233 broad.mit.edu 37 19 48801464 48801464 + Silent SNP G G T TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr19:48801464G>T ENST00000315396.7 - 11 1945 c.1263C>A c.(1261-1263)ctC>ctA p.L421L NM_144577.3 NP_653178.3 Q96M63 CC114_HUMAN coiled-coil domain containing 114 421 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) GCACTGTCAGGAGCTCCACCA 0.652000 13 63 5.50884e-06 5.78554e-06 1 1 0 LINGO2 158038 broad.mit.edu 37 9 27949543 27949543 + Missense_Mutation SNP C C A TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr9:27949543C>A ENST00000379992.2 - 6 1576 c.1127G>T c.(1126-1128)gGt>gTt p.G376V LINGO2_ENST00000308675.3_Missense_Mutation_p.G376V NM_152570.2 NP_689783.1 Q7L985 LIGO2_HUMAN leucine rich repeat and Ig domain containing 2 376 LRRCT. integral to membrane autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 44 Melanoma(11;0.242) all_neural(11;2.78e-09) UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604) TTGCTGGCCACCAAACTGCAG 0.527000 4 66 0.00024832 0.000257268 1 1 0 TIMMDC1 51300 broad.mit.edu 37 3 119236073 119236073 + Silent SNP G G A TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr3:119236073G>A ENST00000494664.1 + 6 820 c.618G>A c.(616-618)ctG>ctA p.L206L TIMMDC1_ENST00000493694.1_Silent_p.L72L NM_016589.3 NP_057673.2 Q9NPL8 TIDC1_HUMAN translocase of inner mitochondrial membrane domain containing 1 206 integral to membrane|mitochondrial inner membrane protein transporter activity autonomic_ganglia(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1) 15 GAGGCCTGCTGATGGCATTTC 0.453000 29 144 0 0 1 0 0 SCN5A 6331 broad.mit.edu 37 3 38627225 38627225 + Missense_Mutation SNP C C A TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr3:38627225C>A ENST00000413689.1 - 16 2937 c.2744G>T c.(2743-2745)tGc>tTc p.C915F SCN5A_ENST00000455624.2_Missense_Mutation_p.C915F|SCN5A_ENST00000450102.2_Missense_Mutation_p.C915F|SCN5A_ENST00000449557.2_Missense_Mutation_p.C915F|SCN5A_ENST00000451551.2_Missense_Mutation_p.C915F|SCN5A_ENST00000443581.1_Missense_Mutation_p.C915F|SCN5A_ENST00000425664.1_Missense_Mutation_p.C915F|SCN5A_ENST00000423572.2_Missense_Mutation_p.C915F|SCN5A_ENST00000414099.2_Missense_Mutation_p.C915F|SCN5A_ENST00000333535.4_Missense_Mutation_p.C915F NM_001099404.1|NM_001160160.1 NP_001092874.1|NP_001153632.1 Q14524 SCN5A_HUMAN sodium channel, voltage-gated, type V, alpha subunit 915 blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction sarcolemma|voltage-gated sodium channel complex protein binding|voltage-gated sodium channel activity NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4) 107 Medulloblastoma(35;0.163) KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1) Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661) GACCAGCAGGCATAATGACTG 0.532000 3 58 0.115264 0.115767 1 1 0 RFTN2 130132 broad.mit.edu 37 2 198498526 198498526 + Missense_Mutation SNP C C G TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr2:198498526C>G ENST00000295049.3 - 4 1170 c.634G>C c.(634-636)Gag>Cag p.E212Q NM_144629.2 NP_653230.2 Q52LD8 RFTN2_HUMAN raftlin family member 2 212 plasma membrane NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(13)|urinary_tract(3) 30 AGTTCTTCCTCAATTCCGCTT 0.403000 65 155 0 0 1 0 0 FCAR 2204 broad.mit.edu 37 19 55401040 55401040 + Missense_Mutation SNP G G A TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr19:55401040G>A ENST00000391723.3 + 4 565 c.565G>A c.(565-567)Gca>Aca p.A189T FCAR_ENST00000353758.4_Silent_p.T116T|FCAR_ENST00000391724.3_Silent_p.T191T|FCAR_ENST00000482092.2_3'UTR|FCAR_ENST00000359272.4_Silent_p.T213T|FCAR_ENST00000345937.4_Silent_p.T129T|FCAR_ENST00000355524.3_Silent_p.T225T|FCAR_ENST00000391725.3_Silent_p.T203T|FCAR_ENST00000391726.3_Silent_p.T117T NM_133274.2 NP_579808.1 P24071 FCAR_HUMAN Fc fragment of IgA, receptor for 0 Ig-like C2-type 2. immune response extracellular region|integral to plasma membrane IgA binding|receptor activity breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(2) 24 GBM - Glioblastoma multiforme(193;0.0443) ATTACACGACGCAGAACTTGA 0.527000 123 537 0 0 1 0 0 POLL 27343 broad.mit.edu 37 10 103344392 103344392 + Missense_Mutation SNP G G A rs41540413 TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr10:103344392G>A ENST00000436284.2 - 3 631 c.431C>T c.(430-432)tCa>tTa p.S144L POLL_ENST00000370172.1_Silent_p.L198L|POLL_ENST00000339310.3_Intron|POLL_ENST00000299206.4_Silent_p.L286L|POLL_ENST00000370158.3_Intron|POLL_ENST00000456836.2_Intron|POLL_ENST00000370162.3_Silent_p.L286L|DPCD_ENST00000416979.2_Intron|POLL_ENST00000370169.1_Silent_p.L286L|DPCD_ENST00000470165.1_Intron Q9UGP5 DPOLL_HUMAN polymerase (DNA directed), lambda 0 DNA replication|nucleotide-excision repair|somatic hypermutation of immunoglobulin genes nucleus DNA binding|DNA-directed DNA polymerase activity|lyase activity|metal ion binding biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(2) 19 Colorectal(252;0.234) Epithelial(162;1.55e-08)|all cancers(201;6.64e-07) GGAAGCTCTTGAGGGCATTGA 0.562000 DNA polymerases (catalytic subunits) 42 107 0 0 1 0 0 MYO5B 4645 broad.mit.edu 37 18 47563335 47563335 + Missense_Mutation SNP C C T TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr18:47563335C>T ENST00000285039.7 - 4 639 c.340G>A c.(340-342)Gaa>Aaa p.E114K NM_001080467.2 NP_001073936.1 Q9ULV0 MYO5B_HUMAN myosin VB 114 Myosin head-like. protein transport myosin complex actin binding|ATP binding|calmodulin binding|motor activity NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4) 87 READ - Rectum adenocarcinoma(32;0.103) GGCAACTGTTCATAAGGATTA 0.468000 17 40 0 0 1 0 0 SNX25 83891 broad.mit.edu 37 4 186185722 186185722 + Missense_Mutation SNP C C T TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr4:186185722C>T ENST00000504273.1 + 4 664 c.370C>T c.(370-372)Ctc>Ttc p.L124F SNX25_ENST00000264694.8_Missense_Mutation_p.L124F Q9H3E2 SNX25_HUMAN sorting nexin 25 124 PXA. cell communication|protein transport endosome membrane phosphatidylinositol binding|signal transducer activity NS(1)|breast(4)|endometrium(2)|kidney(4)|large_intestine(8)|lung(13)|ovary(2)|pancreas(2)|prostate(2)|urinary_tract(2) 40 all_lung(41;1.03e-13)|Lung NSC(41;2.5e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243) all cancers(43;2.13e-24)|Epithelial(43;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.6e-11)|BRCA - Breast invasive adenocarcinoma(30;0.00013)|Colorectal(24;0.000165)|GBM - Glioblastoma multiforme(59;0.000357)|COAD - Colon adenocarcinoma(29;0.000887)|STAD - Stomach adenocarcinoma(60;0.00118)|LUSC - Lung squamous cell carcinoma(40;0.0129)|READ - Rectum adenocarcinoma(43;0.228) TGTGCAGTCTCTCAGCTTACG 0.403000 43 93 0 0 1 0 0 CCAR1 55749 broad.mit.edu 37 10 70520875 70520875 + Missense_Mutation SNP G G C TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr10:70520875G>C ENST00000265872.6 + 16 2151 c.2032G>C c.(2032-2034)Gaa>Caa p.E678Q CCAR1_ENST00000535016.1_Missense_Mutation_p.E663Q|CCAR1_ENST00000543719.1_Missense_Mutation_p.E663Q NM_018237.2 NP_060707.2 Q8IX12 CCAR1_HUMAN cell division cycle and apoptosis regulator 1 678 Glu-rich. apoptosis|cell cycle|nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm|perinuclear region of cytoplasm calcium ion binding|nucleic acid binding|protein binding NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(7)|skin(3) 56 ACAAAAAGAAGAACAGAAGGA 0.348000 33 99 0 0 1 0 0 DPP6 1804 broad.mit.edu 37 7 154679393 154679393 + Silent SNP G G A TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr7:154679393G>A ENST00000404039.1 + 23 2648 c.2061G>A c.(2059-2061)gcG>gcA p.A687A DPP6_ENST00000427557.1_Silent_p.A644A|DPP6_ENST00000377770.3_Silent_p.A751A|DPP6_ENST00000332007.3_Silent_p.A689A NM_001039350.1|NM_001936.3|NM_130797.2 NP_001034439.1|NP_001927.3|NP_570629.2 P42658 DPP6_HUMAN dipeptidyl-peptidase 6 751 cell death|proteolysis integral to membrane dipeptidyl-peptidase activity|serine-type peptidase activity NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 71 all_neural(206;0.181) all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204) OV - Ovarian serous cystadenocarcinoma(82;0.0562) CAGCCTCTGCGTTTTCCGAGA 0.592000 69 241 0 0 1 0 0 HAS1 3036 broad.mit.edu 37 19 52216936 52216936 + Missense_Mutation SNP C C T TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr19:52216936C>T ENST00000540069.2 - 5 1538 c.1478G>A c.(1477-1479)cGg>cAg p.R493Q HAS1_ENST00000222115.1_Missense_Mutation_p.R494Q|HAS1_ENST00000601714.1_Missense_Mutation_p.R501Q Q92839 HAS1_HUMAN hyaluronan synthase 1 494 cell adhesion integral to plasma membrane hyaluronan synthase activity|protein binding breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(4) 40 all_neural(266;0.0189)|Medulloblastoma(540;0.146) GBM - Glioblastoma multiforme(134;0.00102)|OV - Ovarian serous cystadenocarcinoma(262;0.0177) GGCCAGCTTCCGCCGGCCCGA 0.687000 5 4 0 0 1 0 0 PAPSS1 9061 broad.mit.edu 37 4 108552816 108552816 + Missense_Mutation SNP C C G TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr4:108552816C>G ENST00000265174.4 - 11 1979 c.1707G>C c.(1705-1707)aaG>aaC p.K569N NM_005443.4 NP_005434.4 O43252 PAPS1_HUMAN 3'-phosphoadenosine 5'-phosphosulfate synthase 1 569 3'-phosphoadenosine 5'-phosphosulfate biosynthetic process|skeletal system development|sulfate assimilation|xenobiotic metabolic process cytosol adenylylsulfate kinase activity|ATP binding|sulfate adenylyltransferase (ATP) activity NS(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(5)|ovary(1) 16 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;5.49e-05) CCATACGCTTCTTTTTCTTGT 0.423000 45 174 0 0 1 0 0 ZNF160 90338 broad.mit.edu 37 19 53578367 53578367 + Missense_Mutation SNP G G C TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr19:53578367G>C ENST00000429604.1 - 5 500 c.85C>G c.(85-87)Cag>Gag p.Q29E ZNF160_ENST00000599056.1_Missense_Mutation_p.Q29E|ZNF160_ENST00000355147.5_Missense_Mutation_p.Q29E|ZNF160_ENST00000601421.1_5'UTR|ZNF160_ENST00000418871.1_Missense_Mutation_p.Q29E NM_001102603.1|NM_198893.2 NP_001096073.1|NP_942596.1 Q9HCG1 ZN160_HUMAN zinc finger protein 160 29 KRAB. hemopoiesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 35 GBM - Glioblastoma multiforme(134;0.02) AAGATCCTCTGAGCAGGGTCC 0.453000 68 134 0 0 1 0 0 MTMR11 10903 broad.mit.edu 37 1 149905309 149905309 + Silent SNP G G A TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr1:149905309G>A ENST00000439741.2 - 10 1225 c.975C>T c.(973-975)ctC>ctT p.L325L MTMR11_ENST00000369140.3_Silent_p.L253L|MTMR11_ENST00000406732.3_Silent_p.L297L|MTMR11_ENST00000492824.1_5'UTR|MTMR11_ENST00000361405.6_Intron NM_001145862.1 NP_001139334.1 A4FU01 MTMRB_HUMAN myotubularin related protein 11 325 Myotubularin phosphatase. phosphatase activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(13)|prostate(2)|stomach(1)|urinary_tract(4) 34 Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247) CAGGCAGGCAGAGGGCCCTCA 0.557000 57 188 0 0 1 0 0 HAS2 3037 broad.mit.edu 37 8 122641162 122641162 + Missense_Mutation SNP C C T TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr8:122641162C>T ENST00000303924.4 - 2 956 c.419G>A c.(418-420)aGa>aAa p.R140K NM_005328.2 NP_005319.1 Q92819 HAS2_HUMAN hyaluronan synthase 2 140 integral to plasma membrane hyaluronan synthase activity HAS2/PLAG1(10) breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(19)|ovary(5)|skin(1) 38 Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142) STAD - Stomach adenocarcinoma(47;0.00503) TGATTTGTCTCTGCCCATGAC 0.443000 86 434 0 0 1 0 0 HIST1H2BK 85236 broad.mit.edu 37 6 27114238 27114238 + Missense_Mutation SNP C C T TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr6:27114238C>T ENST00000396891.4 - 1 381 c.340G>A c.(340-342)Gag>Aag p.E114K HIST1H2BK_ENST00000356950.1_Missense_Mutation_p.E114K NM_080593.2 NP_542160.1 O60814 H2B1K_HUMAN histone cluster 1, H2bk 114 defense response to bacterium|nucleosome assembly nucleosome|nucleus DNA binding breast(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1) 13 TTGGTGCCCTCGGACACGGCG 0.582000 28 125 0 0 1 0 0 PDE4D 5144 broad.mit.edu 37 5 58285677 58285677 + Missense_Mutation SNP C C T TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr5:58285677C>T ENST00000340635.6 - 10 1532 c.1357G>A c.(1357-1359)Gac>Aac p.D453N PDE4D_ENST00000502484.2_Missense_Mutation_p.D392N|PDE4D_ENST00000405755.2_Missense_Mutation_p.D331N|PDE4D_ENST00000546160.1_Missense_Mutation_p.D392N|PDE4D_ENST00000317118.8_Missense_Mutation_p.D162N|PDE4D_ENST00000358923.6_Missense_Mutation_p.D151N|PDE4D_ENST00000360047.5_Missense_Mutation_p.D317N|PDE4D_ENST00000503258.1_Missense_Mutation_p.D323N|PDE4D_ENST00000507116.1_Missense_Mutation_p.D389N NM_001104631.1 NP_001098101.1 Q08499 PDE4D_HUMAN phosphodiesterase 4D, cAMP-specific 453 signal transduction cytosol|insoluble fraction|membrane|microtubule organizing center|soluble fraction 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|pancreas(1) 15 all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954) Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276) Adenosine monophosphate(DB00131)|Dyphylline(DB00651) TGGTAATGGTCTTCGAGAGTC 0.343000 17 72 0 0 1 0 0 DST 667 broad.mit.edu 37 6 56482963 56482963 + Missense_Mutation SNP C C T TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr6:56482963C>T ENST00000370765.6 - 23 5976 c.5869G>A c.(5869-5871)Gag>Aag p.E1957K DST_ENST00000312431.6_Intron|DST_ENST00000370754.5_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000361203.3_Intron|DST_ENST00000370769.4_Intron|DST_ENST00000446842.2_Intron NM_001723.5 NP_001714.1 Q03001 DYST_HUMAN dystonin 1356 cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 105 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) GAAAAGTACTCAGAGTAACAC 0.458000 27 68 0 0 1 0 0 PTPRT 11122 broad.mit.edu 37 20 40979290 40979290 + Nonsense_Mutation SNP G G A TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr20:40979290G>A ENST00000373198.3 - 11 2078 c.1843C>T c.(1843-1845)Cag>Tag p.Q615* PTPRT_ENST00000373187.1_Nonsense_Mutation_p.Q615*|PTPRT_ENST00000373190.1_Nonsense_Mutation_p.Q615*|PTPRT_ENST00000373184.1_Nonsense_Mutation_p.Q615*|PTPRT_ENST00000356100.2_Nonsense_Mutation_p.Q615*|PTPRT_ENST00000373201.1_Nonsense_Mutation_p.Q615*|PTPRT_ENST00000373193.3_Nonsense_Mutation_p.Q615* NM_133170.3 NP_573400.3 O14522 PTPRT_HUMAN protein tyrosine phosphatase, receptor type, T 615 Fibronectin type-III 4. homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway cell surface|integral to membrane|plasma membrane alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 176 Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783) CCCCGGGACTGAGCGGGTTTC 0.527000 30 139 0 0 1 0 0 TRPM3 80036 broad.mit.edu 37 9 73254078 73254078 + Silent SNP G G T TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr9:73254078G>T ENST00000377110.2 - 11 1722 c.1479C>A c.(1477-1479)gcC>gcA p.A493A TRPM3_ENST00000423814.3_Silent_p.A520A|TRPM3_ENST00000377105.1_Silent_p.A340A|TRPM3_ENST00000377106.1_Silent_p.A365A|TRPM3_ENST00000408909.2_Silent_p.A340A|TRPM3_ENST00000396280.5_Silent_p.A340A|TRPM3_ENST00000377111.2_Silent_p.A493A|TRPM3_ENST00000396285.1_Silent_p.A340A|TRPM3_ENST00000360823.2_Silent_p.A365A|TRPM3_ENST00000396292.4_Silent_p.A365A|TRPM3_ENST00000358082.3_Silent_p.A365A|TRPM3_ENST00000357533.2_Silent_p.A495A NM_001007471.2 NP_001007472.2 Q9HCF6 TRPM3_HUMAN transient receptor potential cation channel, subfamily M, member 3 518 integral to membrane calcium channel activity NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1) 95 CCAGAACTAAGGCATCCAACA 0.448000 4 109 0.014758 0.0150859 1 1 0 ALOX12B 242 broad.mit.edu 37 17 7983186 7983186 + Silent SNP C C G TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr17:7983186C>G ENST00000319144.4 - 7 1088 c.828G>C c.(826-828)ctG>ctC p.L276L AC129492.6_ENST00000399413.3_5'UTR NM_001139.2 NP_001130.1 O75342 LX12B_HUMAN arachidonate 12-lipoxygenase, 12R type 276 Lipoxygenase. epidermis development|leukotriene biosynthetic process arachidonate 12-lipoxygenase activity|iron ion binding|lipoxygenase activity endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|stomach(1) 16 AGCGGCGGATCAGGCCGGGGT 0.652000 Multiple Myeloma(8;0.094) 7 35 0 0 1 0 0 RPTOR 57521 broad.mit.edu 37 17 78681774 78681774 + Missense_Mutation SNP A A G TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr17:78681774A>G ENST00000306801.3 + 4 844 c.482A>G c.(481-483)aAc>aGc p.N161S RPTOR_ENST00000537330.1_5'UTR|RPTOR_ENST00000544334.2_Missense_Mutation_p.N161S|RPTOR_ENST00000570891.1_Missense_Mutation_p.N161S NM_020761.2 NP_065812.1 Q8N122 RPTOR_HUMAN regulatory associated protein of MTOR, complex 1 161 cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of protein serine/threonine kinase activity|positive regulation of TOR signaling cascade|TOR signaling cascade cytosol|lysosome|TORC1 complex protein complex binding breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3) 44 CCCACAGTCAACGGGGAGGTC 0.592000 11 28 0 0 1 0 0 AKR1B10 57016 broad.mit.edu 37 7 134216705 134216705 + Missense_Mutation SNP G G C TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr7:134216705G>C ENST00000359579.4 + 3 600 c.280G>C c.(280-282)Gag>Cag p.E94Q AKR1B10_ENST00000475559.1_3'UTR NM_020299.4 NP_064695.3 O60218 AK1BA_HUMAN aldo-keto reductase family 1, member B10 (aldose reductase) 94 cellular aldehyde metabolic process|digestion|steroid metabolic process cytoplasm aldo-keto reductase (NADP) activity|protein binding NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(9)|skin(5) 20 GAAAGCCTTTGAGAAGACCCT 0.468000 40 150 0 0 1 0 0 GCFC2 6936 broad.mit.edu 37 2 75921517 75921517 + Missense_Mutation SNP C C T TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr2:75921517C>T ENST00000541687.1 - 5 813 c.754G>A c.(754-756)Gag>Aag p.E252K GCFC2_ENST00000409857.3_Silent_p.L252L|GCFC2_ENST00000321027.3_Silent_p.L290L P16383 GCF_HUMAN GC-rich sequence DNA-binding factor 2 0 negative regulation of transcription, DNA-dependent nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity CATACTCCCTCAGGTGTGAGC 0.299000 51 178 0 0 1 0 0 PI4KA 5297 broad.mit.edu 37 22 21115663 21115663 + Missense_Mutation SNP G G A TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr22:21115663G>A ENST00000255882.6 - 23 2806 c.2720C>T c.(2719-2721)tCa>tTa p.S907L PI4KA_ENST00000572273.1_Missense_Mutation_p.S849L|PI4KA_ENST00000466162.1_5'UTR NM_058004.3 NP_477352.3 P42356 PI4KA_HUMAN phosphatidylinositol 4-kinase, catalytic, alpha 849 phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission Golgi-associated vesicle 1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 79 all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196) AGGATCTGTTGAACGCAGTAC 0.393000 23 46 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9056712 9056712 + Missense_Mutation SNP G G A TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr19:9056712G>A ENST00000397910.4 - 3 30937 c.30734C>T c.(30733-30735)tCc>tTc p.S10245F NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 10247 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TTCTGGGAAGGAGGTTATCCC 0.463000 24 62 0 0 1 0 0 EIF4G1 1981 broad.mit.edu 37 3 184043113 184043113 + Silent SNP G G A TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr3:184043113G>A ENST00000342981.4 + 18 3330 c.2916G>A c.(2914-2916)acG>acA p.T972T EIF4G1_ENST00000352767.3_Silent_p.T978T|EIF4G1_ENST00000382330.3_Silent_p.T978T|EIF4G1_ENST00000319274.6_Silent_p.T971T|EIF4G1_ENST00000424196.1_Silent_p.T978T|EIF4G1_ENST00000427845.1_Silent_p.T885T|EIF4G1_ENST00000414031.1_Silent_p.T931T|EIF4G1_ENST00000350481.5_Silent_p.T807T|EIF4G1_ENST00000411531.1_Silent_p.T932T|EIF4G1_ENST00000392537.2_Silent_p.T884T|EIF4G1_ENST00000441154.1_Silent_p.T808T|EIF4G1_ENST00000346169.2_Silent_p.T971T|EIF4G1_ENST00000435046.2_Silent_p.T775T|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000434061.2_Silent_p.T776T NM_182917.4 NP_886553.3 Q04637 IF4G1_HUMAN eukaryotic translation initiation factor 4 gamma, 1 971 eIF3/EIF4A-binding. insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation cytosol|eukaryotic translation initiation factor 4F complex protein binding|translation initiation factor activity central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 75 all_cancers(143;1.06e-10)|Ovarian(172;0.0339) Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) AAAAGAAGACGTCATCCCGCA 0.522000 32 162 0 0 1 0 0 DRP2 1821 broad.mit.edu 37 X 100511136 100511136 + Missense_Mutation SNP C C G TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chrX:100511136C>G ENST00000395209.3 + 21 2803 c.2276C>G c.(2275-2277)tCc>tGc p.S759C DRP2_ENST00000541709.1_Missense_Mutation_p.S681C|DRP2_ENST00000538510.1_Missense_Mutation_p.S759C|DRP2_ENST00000402866.1_Missense_Mutation_p.S759C NM_001939.2 NP_001930.2 Q13474 DRP2_HUMAN dystrophin related protein 2 759 central nervous system development cytoplasm|cytoskeleton zinc ion binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2) 31 CTGCGGCACTCCAGCCCCATC 0.572000 26 58 0 0 1 0 0 TSSC2 650368 broad.mit.edu 37 11 3427845 3427845 + RNA SNP C C T TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr11:3427845C>T ENST00000529482.1 + 0 962 CTTCAAGTGGCAGGAGCAGAA 0.587000 6 74 0 0 1 0 0 SDK1 221935 broad.mit.edu 37 7 4169596 4169596 + Silent SNP G G A TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr7:4169596G>A ENST00000404826.2 + 27 4135 c.3996G>A c.(3994-3996)ggG>ggA p.G1332G SDK1_ENST00000389531.3_Silent_p.G1332G NM_152744.3 NP_689957.3 Q7Z5N4 SDK1_HUMAN sidekick cell adhesion molecule 1 1332 Fibronectin type-III 7. cell adhesion integral to membrane NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4) 153 all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194) UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15) TCGTGCGAGGGAACCACACGC 0.652000 25 72 0 0 1 0 0 PTENP1 11191 broad.mit.edu 37 9 33676496 33676496 + RNA SNP C C A TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr9:33676496C>A ENST00000532280.1 - 0 1001 NR_023917.1 CTTACTACATCATCAATATTG 0.348000 34 120 1.08052e-11 1.17782e-11 1 1 0 XDH 7498 broad.mit.edu 37 2 31621533 31621533 + Silent SNP G G A rs118042822 by1000genomes TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr2:31621533G>A ENST00000379416.3 - 5 387 c.339C>T c.(337-339)tgC>tgT p.C113C NM_000379.3 NP_000370.2 P47989 XDH_HUMAN xanthine dehydrogenase 113 purine nucleotide catabolic process|xanthine catabolic process cytosol|extracellular region|peroxisome 2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity p.C113C(1) breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1) 74 Acute lymphoblastic leukemia(172;0.155) Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163) TGCAGAACCCGCACTGGGAGC 0.552000 55 175 0 0 1 0 0 IGHV1OR21-1 390530 broad.mit.edu 37 21 10863030 10863030 + RNA SNP A A G TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr21:10863030A>G ENST00000559480.1 + 0 326 breast(1)|endometrium(1)|kidney(3)|lung(20)|urinary_tract(1) 26 AGATCTGAGGACACGGCCATG 0.507000 66 606 0 0 1 0 0 TUBB8P7 197331 broad.mit.edu 37 16 90161864 90161864 + RNA SNP C C T TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr16:90161864C>T ENST00000564451.1 + 0 1217 TUBB8P7_ENST00000567960.1_RNA ATGAGACCTTCTGCATAGATA 0.517000 4 95 0 0 1 0 0 KRTAP20-2 337976 broad.mit.edu 37 21 32007779 32007779 + Silent SNP G G A TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr21:32007779G>A ENST00000330798.2 + 1 225 c.197G>A c.(196-198)tGa>tAa p.*66* NM_181616.1 NP_853647.1 Q3LI61 KR202_HUMAN keratin associated protein 20-2 0 intermediate filament central_nervous_system(1)|endometrium(3)|kidney(1)|lung(2)|ovary(1) 8 GGCTTCTACTGAGAAATATCT 0.468000 49 117 0 0 1 0 0 SH3GL2 6456 broad.mit.edu 37 9 17791298 17791298 + Missense_Mutation SNP A A T TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr9:17791298A>T ENST00000380607.4 + 7 814 c.694A>T c.(694-696)Atc>Ttc p.I232F SH3GL2_ENST00000537391.1_Missense_Mutation_p.I185F NM_003026.2 NP_003017.1 Q99962 SH3G2_HUMAN SH3-domain GRB2-like 2 232 BAR. axon guidance|central nervous system development|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport cytosol|Golgi membrane|plasma membrane identical protein binding|lipid binding NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|skin(3)|upper_aerodigestive_tract(1) 26 GBM - Glioblastoma multiforme(50;2.71e-10)|Lung(42;0.203) GGCAGTCCAGATCCTGCAGCA 0.433000 34 131 0 0 1 0 0 FARP2 9855 broad.mit.edu 37 2 242312558 242312558 + Silent SNP G G A TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr2:242312558G>A ENST00000264042.3 + 2 206 c.36G>A c.(34-36)caG>caA p.Q12Q FARP2_ENST00000545004.1_Silent_p.Q12Q|FARP2_ENST00000373287.4_Silent_p.Q12Q|FARP2_ENST00000479427.1_3'UTR NM_014808.2 NP_055623.1 O94887 FARP2_HUMAN FERM, RhoGEF and pleckstrin domain protein 2 12 axon guidance|neuron remodeling|Rac protein signal transduction|regulation of Rho protein signal transduction cytoskeleton|cytosol|extrinsic to membrane cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 43 all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238) Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121) GAGTCCTGCAGACTGCAGGGA 0.488000 36 79 0 0 1 0 0 GDPD2 54857 broad.mit.edu 37 X 69649354 69649354 + Silent SNP C C T TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chrX:69649354C>T ENST00000453994.2 + 11 1309 c.948C>T c.(946-948)ttC>ttT p.F316F GDPD2_ENST00000374382.3_Silent_p.F316F|GDPD2_ENST00000472623.1_3'UTR|GDPD2_ENST00000536730.1_Silent_p.F237F|GDPD2_ENST00000538649.1_Silent_p.F237F NM_001171192.1 NP_001164663.1 Q9HCC8 GDPD2_HUMAN glycerophosphodiester phosphodiesterase domain containing 2 316 GDPD. glycerol metabolic process|lipid metabolic process cytoplasm|cytoskeleton|integral to membrane|plasma membrane glycerophosphodiester phosphodiesterase activity|glycerophosphoinositol inositolphosphodiesterase activity|metal ion binding NS(1)|breast(1)|cervix(1)|endometrium(6)|large_intestine(8)|lung(3)|ovary(2) 22 Renal(35;0.156) GGCGACCCTTCTGGGGGGCCA 0.522000 12 16 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7578406 7578406 + Missense_Mutation SNP C C T rs28934578 TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr17:7578406C>T ENST00000420246.2 - 5 656 c.524G>A c.(523-525)cGc>cAc p.R175H TP53_ENST00000413465.2_Missense_Mutation_p.R175H|TP53_ENST00000445888.2_Missense_Mutation_p.R175H|TP53_ENST00000455263.2_Missense_Mutation_p.R175H|TP53_ENST00000269305.4_Missense_Mutation_p.R175H|TP53_ENST00000359597.4_Missense_Mutation_p.R175H|TP53_ENST00000574684.1_5'UTR NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 175 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934578).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.R175H(847)|p.R43H(36)|p.R82H(36)|p.R175L(19)|p.0?(8)|p.R175P(6)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*5(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) GTGGGGGCAGCGCCTCACAAC 0.652000 R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY) 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 25 71 0 0 1 0 0 ACADSB 36 broad.mit.edu 37 10 124803982 124803982 + Missense_Mutation SNP G G C TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr10:124803982G>C ENST00000358776.4 + 7 895 c.881G>C c.(880-882)aGa>aCa p.R294T ACADSB_ENST00000368869.4_Missense_Mutation_p.R192T|ACADSB_ENST00000496730.2_3'UTR NM_001609.3 NP_001600.1 P45954 ACDSB_HUMAN acyl-CoA dehydrogenase, short/branched chain 294 Substrate binding. branched chain family amino acid catabolic process|fatty acid metabolic process mitochondrial matrix flavin adenine dinucleotide binding breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 17 all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163) Colorectal(40;0.0811)|COAD - Colon adenocarcinoma(40;0.0835) L-Isoleucine(DB00167) AATGAAGGTAGAATAGGAATT 0.358000 20 72 0 0 1 0 0 MDFI 4188 broad.mit.edu 37 6 41621181 41621181 + Silent SNP C C T TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr6:41621181C>T ENST00000373050.4 + 4 613 c.426C>T c.(424-426)tgC>tgT p.C142C Q99750 MDFI_HUMAN MyoD family inhibitor 203 cytoplasmic sequestering of transcription factor|dorsal/ventral axis specification|negative regulation of DNA binding|negative regulation of transcription from RNA polymerase II promoter|negative regulation of Wnt receptor signaling pathway cytoplasm|nucleus endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|prostate(2)|skin(1)|urinary_tract(1) 8 Ovarian(28;0.0327)|Colorectal(47;0.121) Colorectal(64;0.0123)|COAD - Colon adenocarcinoma(64;0.0264)|KIRC - Kidney renal clear cell carcinoma(1;0.138) GCTGCTGCTGCTGTGGCTCTG 0.657000 3 105 0 0 1 0 0 CD80 941 broad.mit.edu 37 3 119248743 119248743 + Missense_Mutation SNP C C T TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr3:119248743C>T ENST00000264246.3 - 5 1104 c.742G>A c.(742-744)Gcc>Acc p.A248T CD80_ENST00000478182.1_Missense_Mutation_p.A248T|CD80_ENST00000383668.3_Intron|CD80_ENST00000383669.3_Intron NM_005191.3 NP_005182.1 P33681 CD80_HUMAN CD80 molecule 248 interspecies interaction between organisms|intracellular signal transduction|positive regulation of granulocyte macrophage colony-stimulating factor biosynthetic process|positive regulation of interleukin-2 biosynthetic process|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of signal transduction|positive regulation of T-helper 1 cell differentiation|positive regulation of transcription, DNA-dependent|T cell costimulation intracellular coreceptor activity|protein binding breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(2) 12 Abatacept(DB01281) AAGGTAATGGCCCAGGATGGG 0.403000 20 114 0 0 1 0 0 PBXIP1 57326 broad.mit.edu 37 1 154926182 154926182 + Missense_Mutation SNP C C T TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr1:154926182C>T ENST00000368463.3 - 2 87 c.16G>A c.(16-18)Gac>Aac p.D6N PBXIP1_ENST00000368460.3_Missense_Mutation_p.D6N|PBXIP1_ENST00000368465.1_Intron|PBXIP1_ENST00000542459.1_Intron|PBXIP1_ENST00000498553.1_5'UTR|PBXIP1_ENST00000539880.1_Missense_Mutation_p.D6N NM_020524.2 NP_065385.2 Q96AQ6 PBIP1_HUMAN pre-B-cell leukemia homeobox interacting protein 1 6 cell differentiation|multicellular organismal development|negative regulation of transcription, DNA-dependent cytosol|microtubule|nucleus protein binding|transcription corepressor activity breast(1)|kidney(2)|large_intestine(6)|lung(13)|prostate(1)|urinary_tract(1) 24 all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245) BRCA - Breast invasive adenocarcinoma(34;0.00034) TTATCAGAGTCTGGGCAGGAG 0.607000 10 24 0 0 1 0 0 EFCC1 79825 broad.mit.edu 37 3 128755858 128755858 + Silent SNP G G A TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr3:128755858G>A ENST00000436022.2 + 6 1488 c.177G>A c.(175-177)ctG>ctA p.L59L EFCC1_ENST00000480450.1_Silent_p.L496L NM_024768.2 NP_079044.2 EF-hand and coiled-coil domain containing 1 ATGAGCACCTGAGGCTGGAGC 0.627000 20 65 0 0 1 0 0 RASL12 51285 broad.mit.edu 37 15 65357567 65357567 + Missense_Mutation SNP C C T TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr15:65357567C>T ENST00000220062.4 - 2 424 c.148G>A c.(148-150)Gac>Aac p.D50N RASL12_ENST00000434605.2_Missense_Mutation_p.D39N|RASL12_ENST00000421977.3_Intron NM_016563.2 NP_057647.1 Q9NYN1 RASLC_HUMAN RAS-like, family 12 50 small GTPase mediated signal transduction membrane GTP binding|GTPase activity lung(1)|ovary(1)|skin(1)|urinary_tract(1) 4 AAGTTGGGGTCATATTCACTG 0.572000 8 20 0 0 1 0 0 SLC22A17 51310 broad.mit.edu 37 14 23816792 23816792 + Missense_Mutation SNP G G A TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr14:23816792G>A ENST00000354772.3 - 8 1596 c.1093C>T c.(1093-1095)Cgg>Tgg p.R365W SLC22A17_ENST00000397260.3_Missense_Mutation_p.R254W|SLC22A17_ENST00000474057.1_5'UTR|SLC22A17_ENST00000397267.1_Missense_Mutation_p.R365W|SLC22A17_ENST00000206544.8_Missense_Mutation_p.R365W NM_016609.3 NP_057693.3 Q8WUG5 S22AH_HUMAN solute carrier family 22, member 17 365 siderophore transport integral to organelle membrane|integral to plasma membrane|vacuolar membrane transmembrane receptor activity|transmembrane transporter activity breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 15 all_cancers(95;7.12e-06) GBM - Glioblastoma multiforme(265;0.00643) AGGATGCCCCGGCGGCCAAAT 0.632000 24 62 0 0 1 0 0 CHML 1122 broad.mit.edu 37 1 241798757 241798757 + Silent SNP G G A rs113330678 TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr1:241798757G>A ENST00000366553.1 - 1 475 c.312C>T c.(310-312)taC>taT p.Y104Y OPN3_ENST00000366554.2_Intron|OPN3_ENST00000331838.5_Intron|OPN3_ENST00000469376.1_Intron NM_001821.3 NP_001812.2 P26374 RAE2_HUMAN choroideremia-like (Rab escort protein 2) 104 intracellular protein transport|visual perception Rab-protein geranylgeranyltransferase complex GTPase activator activity|Rab geranylgeranyltransferase activity p.Y104Y(1) breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(4)|skin(3)|stomach(1) 26 Ovarian(103;0.103)|all_lung(81;0.23) all_cancers(173;0.0231) OV - Ovarian serous cystadenocarcinoma(106;0.0125) CCTGACTGGCGTAGCAAAAAG 0.438000 116 342 0 0 1 0 0 TBX18 9096 broad.mit.edu 37 6 85469990 85469990 + Silent SNP C C G TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr6:85469990C>G ENST00000369663.5 - 3 919 c.582G>C c.(580-582)gtG>gtC p.V194V TBX18_ENST00000606521.1_5'UTR|TBX18_ENST00000606784.1_Silent_p.V36V NM_001080508.1 NP_001073977.1 O95935 TBX18_HUMAN T-box 18 194 multicellular organismal development nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3) 61 all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858) BRCA - Breast invasive adenocarcinoma(108;0.0267) TTTTGTTGTCCACTGGTACAA 0.388000 11 69 0 0 1 0 0 NSRP1 84081 broad.mit.edu 37 17 28512309 28512309 + Missense_Mutation SNP G G A TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr17:28512309G>A ENST00000247026.5 + 7 1357 c.1294G>A c.(1294-1296)Gat>Aat p.D432N NSRP1_ENST00000540900.3_3'UTR NM_001261467.1|NM_032141.3 NP_001248396.1|NP_115517.1 Q9H0G5 NSRP1_HUMAN nuclear speckle splicing regulatory protein 1 432 developmental process|nucleocytoplasmic transport|regulation of alternative nuclear mRNA splicing, via spliceosome nuclear speck|ribonucleoprotein complex mRNA binding|protein binding autonomic_ganglia(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1) 14 tgaaaataatgataaatacag 0.378000 10 34 0 0 1 0 0 WDR90 197335 broad.mit.edu 37 16 711778 711778 + Silent SNP C C T TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr16:711778C>T ENST00000549091.1 + 31 3947 c.3855C>T c.(3853-3855)atC>atT p.I1285I WDR90_ENST00000293879.4_Silent_p.I1285I NM_145294.4 NP_660337.3 Q96KV7 WDR90_HUMAN WD repeat domain 90 1285 endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2) 37 Hepatocellular(780;0.0218) GGGCAGACATCAGCCTTCAGG 0.647000 32 101 0 0 1 0 0 STAB2 55576 broad.mit.edu 37 12 104064480 104064480 + Missense_Mutation SNP G G C TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr12:104064480G>C ENST00000388887.2 + 22 2470 c.2266G>C c.(2266-2268)Gat>Cat p.D756H NM_017564.9 NP_060034.9 Q8WWQ8 STAB2_HUMAN stabilin 2 756 EGF-like 6. angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis cytoplasm|external side of plasma membrane|integral to plasma membrane Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2) 174 CCAGTGTGCAGATAGCCTCGG 0.502000 11 28 0 0 1 0 0 USP34 9736 broad.mit.edu 37 2 61447483 61447483 + Missense_Mutation SNP C C T TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr2:61447483C>T ENST00000398571.2 - 67 8085 c.8009G>A c.(8008-8010)cGg>cAg p.R2670Q USP34_ENST00000472689.1_5'UTR NM_014709.3 NP_055524.3 Q70CQ2 UBP34_HUMAN ubiquitin specific peptidase 34 2670 positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2) 138 Epithelial(17;0.229) CAAAAGAAACCGCTCGACCCA 0.378000 103 383 0 0 1 0 0 SLC7A1 6541 broad.mit.edu 37 13 30096553 30096553 + Missense_Mutation SNP C C G TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr13:30096553C>G ENST00000380752.5 - 8 1476 c.1090G>C c.(1090-1092)Gcc>Ccc p.A364P NM_003045.4 NP_003036.1 P30825 CTR1_HUMAN solute carrier family 7 (cationic amino acid transporter, y+ system), member 1 364 cellular nitrogen compound metabolic process|ion transport integral to plasma membrane receptor activity endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|stomach(1)|urinary_tract(2) 24 Lung SC(185;0.0257)|Breast(139;0.238) all cancers(112;0.0148)|OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(112;0.0875)|GBM - Glioblastoma multiforme(144;0.179) L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129) TCAGCCATGGCATAGATAACC 0.498000 30 150 0 0 1 0 0 ATP8B2 57198 broad.mit.edu 37 1 154309988 154309988 + Silent SNP C C A TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr1:154309988C>A ENST00000368489.3 + 12 1101 c.1101C>A c.(1099-1101)ctC>ctA p.L367L ATP8B2_ENST00000426445.1_3'UTR|ATP8B2_ENST00000341822.2_Silent_p.L353L|ATP8B2_ENST00000368487.3_Silent_p.L334L NM_020452.3 NP_065185.1 P98198 AT8B2_HUMAN ATPase, aminophospholipid transporter, class I, type 8B, member 2 353 ATP biosynthetic process plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity IL6R/ATP8B2(2) breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 51 all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877) LUSC - Lung squamous cell carcinoma(543;0.185) TCATCATCCTCAACACCGTTG 0.532000 117 403 1.39264e-60 1.55488e-60 1 1 0 CPM 1368 broad.mit.edu 37 12 69250400 69250400 + Silent SNP C C T TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr12:69250400C>T ENST00000551568.1 - 9 1209 c.1149G>A c.(1147-1149)caG>caA p.Q383Q CPM_ENST00000546373.1_Silent_p.Q383Q|CPM_ENST00000338356.3_Silent_p.Q383Q NM_001005502.2|NM_198320.3 NP_001005502.1|NP_938079.1 P14384 CBPM_HUMAN carboxypeptidase M 383 anatomical structure morphogenesis|proteolysis anchored to membrane|cytoplasm|nucleus|plasma membrane metallocarboxypeptidase activity|zinc ion binding large_intestine(1)|lung(6)|prostate(2) 9 all_epithelial(5;1.09e-35)|Lung NSC(4;1.47e-33)|all_lung(4;1.02e-31)|Breast(13;1.59e-06) all cancers(2;2.69e-50)|GBM - Glioblastoma multiforme(2;7.34e-41)|BRCA - Breast invasive adenocarcinoma(5;5.38e-10)|Lung(24;4.61e-05)|LUAD - Lung adenocarcinoma(15;0.000376)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143) CACTGAAGTTCTGGGATTTCT 0.393000 32 124 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7577094 7577094 + Missense_Mutation SNP G G A rs28934574 TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr17:7577094G>A ENST00000420246.2 - 8 976 c.844C>T c.(844-846)Cgg>Tgg p.R282W TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.R282W|TP53_ENST00000455263.2_Missense_Mutation_p.R282W|TP53_ENST00000269305.4_Missense_Mutation_p.R282W|TP53_ENST00000359597.4_Missense_Mutation_p.R282W NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 282 Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity). DR -> EW (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in a sporadic cancer; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934574). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.R282W(401)|p.R282G(29)|p.0?(8)|p.R282fs*24(4)|p.R282R(3)|p.?(2)|p.D281fs*63(2)|p.D281_R282>EW(2)|p.A276_R283delACPGRDRR(1)|p.D281_R282insXX(1)|p.C275fs*20(1)|p.R282_E287delRRTEEE(1)|p.L265_K305del41(1)|p.D281_R282delDR(1)|p.G279fs*59(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.R282fs*63(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) TCTGTGCGCCGGTCTCTCCCA 0.557000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 19 53 0 0 1 0 0 FAM19A2 338811 broad.mit.edu 37 12 62261196 62261196 + Missense_Mutation SNP C C G TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr12:62261196C>G ENST00000416284.3 - 2 1595 c.11G>C c.(10-12)aGa>aCa p.R4T FAM19A2_ENST00000551619.1_Missense_Mutation_p.R4T|FAM19A2_ENST00000551449.1_Missense_Mutation_p.R4T NM_178539.4 NP_848634.1 Q8N3H0 F19A2_HUMAN family with sequence similarity 19 (chemokine (C-C motif)-like), member A2 4 cytoplasm endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1) 15 GBM - Glioblastoma multiforme(1;0.00484) GBM - Glioblastoma multiforme(3;0.02) CTGTAAGTATCTCTTACTCAT 0.313000 23 113 0 0 1 0 0 MPP6 51678 broad.mit.edu 37 7 24727123 24727123 + Missense_Mutation SNP G G A TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr7:24727123G>A ENST00000396475.2 + 13 1812 c.1513G>A c.(1513-1515)Gat>Aat p.D505N MPP6_ENST00000222644.4_Missense_Mutation_p.D505N|MPP6_ENST00000409761.1_Missense_Mutation_p.D393N NM_016447.2 NP_057531.2 Q9NZW5 MPP6_HUMAN membrane protein, palmitoylated 6 (MAGUK p55 subfamily member 6) 505 Guanylate kinase-like. protein complex assembly protein binding breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|skin(2) 20 CCACTATTTTGATTTGATCAT 0.378000 46 186 0 0 1 0 0 SLC6A13 6540 broad.mit.edu 37 12 333247 333247 + Missense_Mutation SNP G G A TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr12:333247G>A ENST00000343164.4 - 11 1274 c.1222C>T c.(1222-1224)Cac>Tac p.H408Y SLC6A13_ENST00000445055.2_Missense_Mutation_p.H316Y|SLC6A13_ENST00000539668.1_5'UTR NM_016615.4 NP_057699.2 Q9NSD5 S6A13_HUMAN solute carrier family 6 (neurotransmitter transporter), member 13 408 neurotransmitter secretion integral to plasma membrane gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity p.H408N(1) NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(1) 28 all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142) OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239) CGGAACACGTGAGGGTACATG 0.562000 25 61 0 0 1 0 0 EPB41L1 2036 broad.mit.edu 37 20 34806864 34806864 + Missense_Mutation SNP G G A TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr20:34806864G>A ENST00000338074.2 + 18 2496 c.2335G>A c.(2335-2337)Gaa>Aaa p.E779K EPB41L1_ENST00000373950.2_Missense_Mutation_p.E670K|EPB41L1_ENST00000373946.3_Missense_Mutation_p.E599K|EPB41L1_ENST00000202028.5_Missense_Mutation_p.E677K|EPB41L1_ENST00000441639.1_Missense_Mutation_p.E677K|EPB41L1_ENST00000373941.1_Missense_Mutation_p.E778K NM_001258329.1|NM_012156.2 NP_001245258.1|NP_036288.2 Q9H4G0 E41L1_HUMAN erythrocyte membrane protein band 4.1-like 1 779 Carboxyl-terminal (CTD). cortical actin cytoskeleton organization|synaptic transmission cytoskeleton|cytosol|extrinsic to membrane|plasma membrane actin binding|structural molecule activity breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 37 Breast(12;0.0239) GGTGGCCACGGAAATCCGTTC 0.582000 10 38 0 0 1 0 0 KIAA1244 57221 broad.mit.edu 37 6 138576900 138576900 + Missense_Mutation SNP G G A TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr6:138576900G>A ENST00000251691.4 + 10 1264 c.1098G>A c.(1096-1098)atG>atA p.M366I NM_020340.4 NP_065073.3 Q5TH69 BIG3_HUMAN KIAA1244 366 regulation of ARF protein signal transduction cytoplasm|integral to membrane ARF guanyl-nucleotide exchange factor activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2) 44 Breast(32;0.135) OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259) TCAAAATAATGAAAGAGGTGA 0.572000 5 8 0 0 1 0 0 MYBPC1 4604 broad.mit.edu 37 12 102046500 102046500 + Missense_Mutation SNP G G C TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr12:102046500G>C ENST00000549145.1 + 16 1635 c.1535G>C c.(1534-1536)gGt>gCt p.G512A MYBPC1_ENST00000551300.1_Missense_Mutation_p.G400A|MYBPC1_ENST00000361685.2_Missense_Mutation_p.G524A|MYBPC1_ENST00000361466.2_Missense_Mutation_p.G524A|MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000550270.1_Missense_Mutation_p.G499A|MYBPC1_ENST00000547509.1_Missense_Mutation_p.G485A|MYBPC1_ENST00000547405.1_Missense_Mutation_p.G473A|RP11-755O11.2_ENST00000547027.1_RNA|MYBPC1_ENST00000545503.2_Missense_Mutation_p.G499A|MYBPC1_ENST00000541119.1_Missense_Mutation_p.G487A|MYBPC1_ENST00000536007.1_Missense_Mutation_p.G480A|MYBPC1_ENST00000360610.2_Missense_Mutation_p.G499A|MYBPC1_ENST00000452455.2_Missense_Mutation_p.G499A|MYBPC1_ENST00000441232.1_Missense_Mutation_p.G499A|MYBPC1_ENST00000553190.1_Missense_Mutation_p.G499A|MYBPC1_ENST00000392934.3_Missense_Mutation_p.G486A Q00872 MYPC1_HUMAN myosin binding protein C, slow type 499 Ig-like C2-type 4. cell adhesion|muscle filament sliding cytosol|myofibril|myosin filament actin binding|structural constituent of muscle|titin binding breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2) 57 GAAGATGAAGGTGATTATGTA 0.358000 54 199 0 0 1 0 0 FER1L6 654463 broad.mit.edu 37 8 124975615 124975615 + Silent SNP C C T TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr8:124975615C>T ENST00000522917.1 + 3 380 c.174C>T c.(172-174)gtC>gtT p.V58V FER1L6_ENST00000399018.1_Silent_p.V58V NM_001039112.2 NP_001034201.2 Q2WGJ9 FR1L6_HUMAN fer-1-like 6 (C. elegans) 58 integral to membrane NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1) 118 Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741) STAD - Stomach adenocarcinoma(47;0.00186) TCTTTCCTGTCCCCTCAGCTT 0.507000 111 123 0 0 1 0 0 SEMA6A 57556 broad.mit.edu 37 5 115783452 115783452 + Silent SNP G G A TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr5:115783452G>A ENST00000343348.6 - 19 2737 c.1950C>T c.(1948-1950)ctC>ctT p.L650L SEMA6A_ENST00000257414.8_Silent_p.L667L|SEMA6A_ENST00000282394.6_Silent_p.L127L|CTB-118N6.3_ENST00000508424.1_RNA|SEMA6A_ENST00000510263.1_Silent_p.L650L|SEMA6A_ENST00000513137.1_Silent_p.L77L|CTB-118N6.3_ENST00000512128.1_RNA|SEMA6A_ENST00000503865.1_Silent_p.L29L NM_020796.3 NP_065847.1 Q9H2E6 SEM6A_HUMAN sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A 650 apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis axon|integral to membrane|plasma membrane receptor activity central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 31 all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203) OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151) CAATGGCCAAGAGGGTGACGG 0.552000 5 29 0 0 1 0 0 RPGRIP1L 23322 broad.mit.edu 37 16 53730193 53730193 + Missense_Mutation SNP G G A TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr16:53730193G>A ENST00000262135.4 - 3 193 c.100C>T c.(100-102)Cgg>Tgg p.R34W RPGRIP1L_ENST00000564374.1_Missense_Mutation_p.R34W|RPGRIP1L_ENST00000379925.3_Missense_Mutation_p.R34W|RPGRIP1L_ENST00000563746.1_Missense_Mutation_p.R34W|RPGRIP1L_ENST00000568653.3_Missense_Mutation_p.R34W|RPGRIP1L_ENST00000566096.1_Missense_Mutation_p.R34W NM_001127897.1 NP_001121369.1 Q68CZ1 FTM_HUMAN RPGRIP1-like 34 negative regulation of G-protein coupled receptor protein signaling pathway cell-cell junction|centrosome|cilium axoneme|microtubule basal body thromboxane A2 receptor binding endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2) 46 all_cancers(37;0.0973) TTCATTGTCCGTGTTGTTGAA 0.373000 65 230 0 0 1 0 0 OSER1 51526 broad.mit.edu 37 20 42825779 42825779 + Silent SNP C C T TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr20:42825779C>T ENST00000372970.2 - 6 972 c.792G>A c.(790-792)gtG>gtA p.V264V OSER1_ENST00000255174.2_Silent_p.V264V oxidative stress responsive serine-rich 1 CCTCAATGGTCACATCATCCA 0.488000 30 159 0 0 1 0 0 C10orf137 26098 broad.mit.edu 37 10 127414362 127414362 + Silent SNP C C T rs150180630 byFrequency TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr10:127414362C>T ENST00000337623.3 + 6 852 c.747C>T c.(745-747)ttC>ttT p.F249F C10orf137_ENST00000356792.4_Silent_p.F249F NM_015608.2 NP_056423.2 Q3B7T1 EDRF1_HUMAN chromosome 10 open reading frame 137 249 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(20)|ovary(8)|pancreas(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4) 61 all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936) CTGCTCCCTTCGAAATGCCTT 0.463000 21 76 0 0 1 0 0 IGHV1-46 28465 broad.mit.edu 37 14 106967190 106967190 + RNA SNP G G A TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr14:106967190G>A ENST00000390622.2 - 0 513 CACTAGGGTTGATTATTCCCA 0.542000 44 164 0 0 1 0 0 PRDM16 63976 broad.mit.edu 37 1 3342265 3342265 + Silent SNP G G A TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr1:3342265G>A ENST00000378398.3 + 14 3142 c.3060G>A c.(3058-3060)caG>caA p.Q1020Q PRDM16_ENST00000511072.1_Silent_p.Q1021Q|PRDM16_ENST00000442529.2_Silent_p.Q1019Q|PRDM16_ENST00000441472.2_Silent_p.Q1019Q|PRDM16_ENST00000514189.1_Silent_p.Q1020Q|PRDM16_ENST00000378391.2_Silent_p.Q1020Q|PRDM16_ENST00000512462.1_3'UTR|PRDM16_ENST00000270722.5_Silent_p.Q1020Q Q9HAZ2 PRD16_HUMAN PR domain containing 16 1020 Interaction with CTBP1 and CTBP2 (By similarity).|Mediates interaction with SKI and regulation of TGF-beta signaling. brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent transcriptional repressor complex protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3) 59 all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111) all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134) Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137) TCGGGCAGCAGACCAACCTGG 0.647000 T EVI1 """MDS, AML""" 24 104 0 0 1 0 0 NT5C1B 93034 broad.mit.edu 37 2 18745214 18745214 + Missense_Mutation SNP C C T rs140939592 byFrequency TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr2:18745214C>T ENST00000304081.4 - 9 1601 c.1501G>A c.(1501-1503)Gaa>Aaa p.E501K NT5C1B_ENST00000600945.1_Missense_Mutation_p.E561K|NT5C1B_ENST00000359846.2_Missense_Mutation_p.E561K|NT5C1B-RDH14_ENST00000532967.1_Missense_Mutation_p.E561K NM_033253.3 NP_150278.2 5'-nucleotidase, cytosolic IB endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1) 29 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177) Ovarian(717;0.208) AAAAGAGCTTCGTCTATCTCT 0.537000 38 118 0 0 1 0 0 C11orf88 399949 broad.mit.edu 37 11 111385713 111385713 + Silent SNP G G C TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr11:111385713G>C ENST00000529167.1 + 1 204 c.204G>C c.(202-204)cgG>cgC p.R68R C11orf88_ENST00000375618.4_Silent_p.R68R|C11orf88_ENST00000332814.6_Silent_p.R68R|RP11-794P6.6_ENST00000530283.1_RNA Q6PI97 CK088_HUMAN chromosome 11 open reading frame 88 68 endometrium(1)|large_intestine(3)|lung(2) 6 CGGTGGCGCGGCCCAGGAGGA 0.602000 OREG0021329 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 17 70 0 0 1 0 0 ZBED6CL 113763 broad.mit.edu 37 7 150028028 150028028 + Missense_Mutation SNP G G A TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr7:150028028G>A ENST00000343855.4 + 1 1091 c.535G>A c.(535-537)Gag>Aag p.E179K LRRC61_ENST00000359623.4_Intron|LRRC61_ENST00000323078.7_Intron|LRRC61_ENST00000493307.1_Intron NM_138434.2 NP_612443.1 ZBED6 C-terminal like GCTGGCCTCTGAGAGAAGCGG 0.627000 7 54 0 0 1 0 0 VN1R1 57191 broad.mit.edu 37 19 57966870 57966870 + Missense_Mutation SNP C C T TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr19:57966870C>T ENST00000321039.3 - 1 984 c.985G>A c.(985-987)Gat>Aat p.D329N AC004076.9_ENST00000596831.1_Intron|AC004076.9_ENST00000415705.3_5'UTR NM_020633.3 NP_065684.1 Q9GZP7 VN1R1_HUMAN vomeronasal 1 receptor 1 329 response to pheromone integral to membrane|plasma membrane pheromone receptor activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(2) 19 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)|Breast(46;0.222) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254)|Lung(386;0.171) ATATGAGTATCACTCATGATG 0.463000 30 99 0 0 1 0 0 STAU1 6780 broad.mit.edu 37 20 47734390 47734390 + Missense_Mutation SNP G G A TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr20:47734390G>A ENST00000371828.3 - 11 1695 c.1208C>T c.(1207-1209)tCa>tTa p.S403L STAU1_ENST00000360426.4_Missense_Mutation_p.S397L|STAU1_ENST00000371792.1_Missense_Mutation_p.S395L|STAU1_ENST00000371802.1_Missense_Mutation_p.S403L|STAU1_ENST00000347458.5_Missense_Mutation_p.S397L|STAU1_ENST00000340954.7_Missense_Mutation_p.S397L|STAU1_ENST00000371856.2_Missense_Mutation_p.S478L NM_001037328.1|NM_004602.2 NP_001032405.1|NP_004593.2 O95793 STAU1_HUMAN staufen double-stranded RNA binding protein 1 478 microtubule associated complex|rough endoplasmic reticulum|stress granule double-stranded RNA binding breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 BRCA - Breast invasive adenocarcinoma(12;0.000644)|Colorectal(8;0.198) TACGTGGCCTGAAGAGATGTT 0.537000 24 93 0 0 1 0 0 TRPS1 7227 broad.mit.edu 37 8 116599315 116599315 + Silent SNP A A C TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr8:116599315A>C ENST00000395715.3 - 5 3190 c.2613T>G c.(2611-2613)gcT>gcG p.A871A TRPS1_ENST00000520276.1_Silent_p.A862A|TRPS1_ENST00000519674.1_Silent_p.A858A|TRPS1_ENST00000220888.5_Silent_p.A858A|TRPS1_ENST00000519076.1_Silent_p.A612A NM_014112.2 NP_054831.2 Q9UHF7 TRPS1_HUMAN trichorhinophalangeal syndrome I 858 negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2) 111 all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219) Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12) TCTCTCCGCCAGCTGGCGCCC 0.577000 Langer-Giedion syndrome 4 141 0 0 1 0 0 EXOC7 23265 broad.mit.edu 37 17 74085376 74085376 + Silent SNP C C T TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr17:74085376C>T ENST00000607838.1 - 9 1090 c.996G>A c.(994-996)gaG>gaA p.E332E EXOC7_ENST00000411744.2_Silent_p.E301E|EXOC7_ENST00000335146.7_Silent_p.E360E|EXOC7_ENST00000332065.5_Silent_p.E278E|EXOC7_ENST00000405575.4_Silent_p.E332E|EXOC7_ENST00000589210.1_Silent_p.E309E|EXOC7_ENST00000467929.2_Silent_p.E268E NM_001145297.2|NM_001145298.2|NM_001145299.2 NP_001138769.1|NP_001138770.1|NP_001138771.1 Q9UPT5 EXOC7_HUMAN exocyst complex component 7 360 exocytosis|protein transport centriolar satellite|cytosol|exocyst|plasma membrane protein binding NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1) 14 LUSC - Lung squamous cell carcinoma(166;0.187) AGGCATCGGTCTCCACGTCCA 0.637000 18 45 0 0 1 0 0 BRINP1 1620 broad.mit.edu 37 9 121930223 121930223 + Silent SNP G G A TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr9:121930223G>A ENST00000265922.3 - 8 1886 c.1425C>T c.(1423-1425)atC>atT p.I475I DBC1_ENST00000482797.1_Intron NM_014618.2 NP_055433.2 O60477 DBC1_HUMAN 475 cell cycle arrest|cell death cytoplasm protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 83 TCTCAAAGCTGATGAACTGCT 0.572000 16 53 0 0 1 0 0 CCDC151 115948 broad.mit.edu 37 19 11545748 11545748 + Silent SNP C C T TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr19:11545748C>T ENST00000356392.4 - 1 177 c.90G>A c.(88-90)agG>agA p.R30R CCDC151_ENST00000545100.1_Intron|CCDC151_ENST00000591179.1_Silent_p.R30R|CCDC151_ENST00000586836.1_Intron NM_145045.4 NP_659482.3 A5D8V7 CC151_HUMAN coiled-coil domain containing 151 30 endometrium(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1) 12 CCGAAGCCTCCCTGCCCTTGA 0.667000 OREG0025257 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 25 97 0 0 1 0 0 PRAMEF7 441871 broad.mit.edu 37 1 12979810 12979810 + Silent SNP C C T rs144939857 TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr1:12979810C>T ENST00000361079.2 + 4 1085 c.1002C>T c.(1000-1002)ttC>ttT p.F334F PRAME family member 7 endometrium(2)|kidney(5)|large_intestine(3)|lung(4)|prostate(2)|upper_aerodigestive_tract(2) 18 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) TGACCCATTTCAGCCCTGAGC 0.577000 49 269 0 0 1 0 0 TUBB8P7 197331 broad.mit.edu 37 16 90161926 90161926 + RNA SNP T T C rs8061283 by1000genomes TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr16:90161926T>C ENST00000564451.1 + 0 1279 TUBB8P7_ENST00000567960.1_RNA p.I221T(3) CCCACACCCATCTATGGTGAC 0.527000 6 39 0 0 1 0 0 ADCY1 107 broad.mit.edu 37 7 45753466 45753466 + Missense_Mutation SNP G G T TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr7:45753466G>T ENST00000297323.7 + 20 3254 c.3232G>T c.(3232-3234)Ggg>Tgg p.G1078W NM_021116.2 NP_066939.1 Q08828 ADCY1_HUMAN adenylate cyclase 1 (brain) 1078 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 71 Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640) GTGTCCATTTGGGAGAGCTGG 0.602000 30 111 1.74807e-11 1.88759e-11 1 1 0 PCDHA1 56147 broad.mit.edu 37 5 140165886 140165886 + Missense_Mutation SNP C C A TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr5:140165886C>A ENST00000504120.2 + 1 11 c.11C>A c.(10-12)tCt>tAt p.S4Y PCDHA1_ENST00000378133.3_Missense_Mutation_p.S4Y|PCDHA1_ENST00000394633.3_Missense_Mutation_p.S4Y NM_018900.2 NP_061723.1 breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3) 70 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ATGGTGTTTTCTAGGAGAGGG 0.502000 47 225 2.76378e-25 3.05611e-25 1 1 0 NRD1 4898 broad.mit.edu 37 1 52280475 52280475 + Missense_Mutation SNP G G C TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr1:52280475G>C ENST00000354831.7 - 14 1843 c.1654C>G c.(1654-1656)Ctt>Gtt p.L552V NRD1_ENST00000352171.7_Missense_Mutation_p.L484V|NRD1_ENST00000485608.1_5'UTR|NRD1_ENST00000544028.1_Missense_Mutation_p.L352V|NRD1_ENST00000539524.1_Missense_Mutation_p.L420V NM_002525.2 NP_002516.2 O43847 NRDC_HUMAN nardilysin (N-arginine dibasic convertase) 483 cell migration|cell proliferation|neuromuscular junction development|positive regulation of membrane protein ectodomain proteolysis|proteolysis|regulation of endopeptidase activity cell surface|cytosol epidermal growth factor binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1) 27 AACAGTGCAAGAGCCCAGCAT 0.378000 11 54 0 0 1 0 0 SETD1A 9739 broad.mit.edu 37 16 30976423 30976423 + Missense_Mutation SNP G G A TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr16:30976423G>A ENST00000262519.8 + 7 2046 c.1360G>A c.(1360-1362)Gaa>Aaa p.E454K NM_014712.1 NP_055527.1 O15047 SET1A_HUMAN SET domain containing 1A 454 Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nuclear speck|Set1C/COMPASS complex histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 59 CCCTGAGAGAGAAGAAGTTCG 0.697000 11 41 0 0 1 0 0 STK36 27148 broad.mit.edu 37 2 219562684 219562684 + Missense_Mutation SNP C C T TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr2:219562684C>T ENST00000295709.3 + 25 3296 c.3017C>T c.(3016-3018)gCc>gTc p.A1006V STK36_ENST00000440309.1_Missense_Mutation_p.A1006V|STK36_ENST00000392105.3_Missense_Mutation_p.A985V|STK36_ENST00000392106.2_Missense_Mutation_p.A985V NM_015690.4 NP_056505.2 Q9NRP7 STK36_HUMAN serine/threonine kinase 36 1006 cilium assembly|positive regulation of hh target transcription factor activity|positive regulation of smoothened signaling pathway|post-embryonic development aggresome|cytoplasm|focal adhesion|intermediate filament cytoskeleton|nucleus ATP binding|protein serine/threonine kinase activity|transcription factor binding biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(20)|ovary(4)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 52 Renal(207;0.0915) Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984) GGTGTCTTGGCCGACCTCAGG 0.547000 4 172 0 0 1 0 0 GSN 2934 broad.mit.edu 37 9 124072998 124072998 + Missense_Mutation SNP C C T TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr9:124072998C>T ENST00000373823.3 + 12 1293 c.388C>T c.(388-390)Ccc>Tcc p.P130S GSN_ENST00000394353.2_Missense_Mutation_p.P141S|GSN_ENST00000449733.1_Missense_Mutation_p.P130S|GSN_ENST00000412819.1_Missense_Mutation_p.P130S|GSN_ENST00000341272.2_Missense_Mutation_p.P130S|GSN_ENST00000373808.2_Missense_Mutation_p.P130S|GSN_ENST00000545652.1_Missense_Mutation_p.P138S|GSN_ENST00000436847.1_Missense_Mutation_p.P141S|GSN_ENST00000485767.1_3'UTR|GSN_ENST00000373818.4_Missense_Mutation_p.P181S P06396 GELS_HUMAN gelsolin 181 Actin-severing (Potential). actin filament polymerization|actin filament severing|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|cilium morphogenesis actin cytoskeleton|cytosol actin binding|calcium ion binding|protein binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(1) 21 GCACGTGGTACCCAACGAGGT 0.577000 18 74 0 0 1 0 0 ESPL1 9700 broad.mit.edu 37 12 53680494 53680494 + Missense_Mutation SNP C C T TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr12:53680494C>T ENST00000257934.4 + 18 4065 c.3974C>T c.(3973-3975)tCt>tTt p.S1325F ESPL1_ENST00000552462.1_Missense_Mutation_p.S1325F NM_012291.4 NP_036423.4 Q14674 ESPL1_HUMAN extra spindle pole bodies homolog 1 (S. cerevisiae) 1325 apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis centrosome|nucleus cysteine-type peptidase activity|protein binding breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8) 70 AAGTTAGCCTCTGCTCCCCTG 0.562000 16 49 0 0 1 0 0 LINC00969 440993 broad.mit.edu 37 3 195400728 195400728 + RNA SNP A A G rs12107841 by1000genomes TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr3:195400728A>G ENST00000445430.1 + 0 1324 GATTGTGCCCAGCCTGTACGC 0.587000 4 76 0 0 1 0 0 C1orf168 199920 broad.mit.edu 37 1 57254662 57254662 + Silent SNP G G A TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr1:57254662G>A ENST00000343433.6 - 3 983 c.903C>T c.(901-903)ccC>ccT p.P301P C1orf168_ENST00000484327.1_5'UTR NM_001004303.4 NP_001004303.3 Q5VWT5 CA168_HUMAN chromosome 1 open reading frame 168 301 NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2) 46 CCTGAGTCTTGGGAACAGCAG 0.602000 38 158 0 0 1 0 0 FUK 197258 broad.mit.edu 37 16 70513582 70513582 + Silent SNP G G A TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr16:70513582G>A ENST00000288078.6 + 24 3486 c.3254G>A c.(3253-3255)tGa>tAa p.*1085* FUK_ENST00000571514.1_Silent_p.*576*|FUK_ENST00000378912.2_Silent_p.*1091* NM_145059.2 NP_659496.2 Q8N0W3 FUK_HUMAN fucokinase 0 cytoplasm ATP binding|fucokinase activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(11)|ovary(2)|prostate(2) 23 Ovarian(137;0.0694) CCTTTCCCATGAAGCTGGCTT 0.592000 13 45 0 0 1 0 0 KMT2D 8085 broad.mit.edu 37 12 49434325 49434325 + Nonsense_Mutation SNP G G A TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr12:49434325G>A ENST00000301067.7 - 31 7227 c.7228C>T c.(7228-7230)Cga>Tga p.R2410* NM_003482.3 NP_003473.3 lysine (K)-specific methyltransferase 2D p.R2140*(1) GCAGGCACTCGGGAGAAAGGG 0.647000 8 41 0 0 1 0 0 HOMEZ 57594 broad.mit.edu 37 14 23745733 23745733 + Missense_Mutation SNP C C T TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr14:23745733C>T ENST00000357460.5 - 2 868 c.704G>A c.(703-705)aGg>aAg p.R235K HOMEZ_ENST00000561013.1_Missense_Mutation_p.R237K|HOMEZ_ENST00000431326.2_Missense_Mutation_p.R237K NM_020834.2 NP_065885.2 Q8IX15 HOMEZ_HUMAN homeobox and leucine zipper encoding 235 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(5)|lung(7) 12 all_cancers(95;5.54e-06) GBM - Glioblastoma multiforme(265;0.00643) GTTGGGACCCCTGCCTGCCTG 0.542000 37 105 0 0 1 0 0 PCDH12 51294 broad.mit.edu 37 5 141336011 141336011 + Missense_Mutation SNP G G A TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr5:141336011G>A ENST00000231484.3 - 1 2616 c.1406C>T c.(1405-1407)aCg>aTg p.T469M NM_016580.2 NP_057664.1 Q9NPG4 PCD12_HUMAN protocadherin 12 469 Cadherin 5. neuron recognition integral to plasma membrane calcium ion binding breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1) 38 all_hematologic(541;0.0999) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GTTTTCCCGCGTGGAGACTTC 0.478000 35 143 0 0 1 0 0 CKAP4 10970 broad.mit.edu 37 12 106633144 106633144 + Silent SNP C C T TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr12:106633144C>T ENST00000378026.4 - 2 1603 c.1467G>A c.(1465-1467)ctG>ctA p.L489L NM_006825.3 NP_006816.2 Q07065 CKAP4_HUMAN cytoskeleton-associated protein 4 489 ER-Golgi intermediate compartment membrane|integral to membrane|membrane fraction NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|pancreas(1)|urinary_tract(1) 20 CACTCCTCTTCAGCTCCTCCA 0.662000 32 89 0 0 1 0 0 SIRPG 55423 broad.mit.edu 37 20 1629897 1629897 + Silent SNP G G A TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr20:1629897G>A ENST00000381580.1 - 2 311 c.132C>T c.(130-132)atC>atT p.I44I SIRPG_ENST00000344103.4_Silent_p.I77I|SIRPG_ENST00000216927.4_Silent_p.I77I|SIRPG_ENST00000381583.2_Silent_p.I77I|SIRPG_ENST00000303415.3_Silent_p.I77I Q9P1W8 SIRPG_HUMAN signal-regulatory protein gamma 77 Ig-like V-type. blood coagulation|cell adhesion|cell junction assembly|cell-cell signaling|intracellular signal transduction|leukocyte migration|negative regulation of cell proliferation|positive regulation of cell proliferation|positive regulation of cell-cell adhesion|positive regulation of T cell activation integral to membrane|intracellular|plasma membrane protein binding breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|stomach(1) 27 TTTGATTGTAGATTAATTCCC 0.517000 44 146 0 0 1 0 0 ARHGAP9 64333 broad.mit.edu 37 12 57872434 57872434 + Missense_Mutation SNP C C G TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr12:57872434C>G ENST00000393797.2 - 6 828 c.636G>C c.(634-636)agG>agC p.R212S ARHGAP9_ENST00000393791.3_Missense_Mutation_p.R141S|ARHGAP9_ENST00000356411.2_Missense_Mutation_p.R141S|ARHGAP9_ENST00000424809.2_Missense_Mutation_p.R141S|ARHGAP9_ENST00000550288.1_Missense_Mutation_p.R220S Q9BRR9 RHG09_HUMAN Rho GTPase activating protein 9 141 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|protein binding endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(1) 30 GBM - Glioblastoma multiforme(3;3.37e-34) TGCTGACGCTCCTACACATTT 0.577000 38 158 0 0 1 0 0 LGALS12 85329 broad.mit.edu 37 11 63283757 63283757 + Silent SNP G G A TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr11:63283757G>A ENST00000415491.2 + 8 1334 c.720G>A c.(718-720)gcG>gcA p.A240A LGALS12_ENST00000425950.2_Silent_p.A231A|LGALS12_ENST00000394618.3_Silent_p.A301A|LGALS12_ENST00000255684.5_Silent_p.A292A|LGALS12_ENST00000340246.5_Silent_p.A302A NM_001142537.1 NP_001136009.1 Q96DT0 LEG12_HUMAN lectin, galactoside-binding, soluble, 12 301 Galectin 2. apoptosis|induction of apoptosis by intracellular signals nucleus lactose binding breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|upper_aerodigestive_tract(1) 16 TGAAGCTGGCGCTCAATGGGC 0.632000 19 50 0 0 1 0 0 SFRP4 6424 broad.mit.edu 37 7 37955829 37955829 + Missense_Mutation SNP G G T TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr7:37955829G>T ENST00000436072.2 - 1 688 c.311C>A c.(310-312)gCg>gAg p.A104E EPDR1_ENST00000476620.1_Intron NM_003014.3 NP_003005.2 Q6FHJ7 SFRP4_HUMAN secreted frizzled-related protein 4 104 FZ. brain development|cell differentiation|decidualization|embryo development|epithelium development|gonad development|mammary gland involution|menstrual cycle phase|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell proliferation|negative regulation of JNK cascade|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of sodium-dependent phosphate transport|phosphate ion homeostasis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epidermal cell differentiation|positive regulation of gene expression|positive regulation of receptor internalization|vasculature development|Wnt receptor signaling pathway cell surface|cytoplasm|extracellular space|nucleus PDZ domain binding|Wnt receptor activity|Wnt-protein binding p.A104V(1) endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1) 29 GTCGTCGCGCGCGCGTTGGCA 0.627000 17 46 6.94344e-10 7.46258e-10 1 1 0 GABRG2 2566 broad.mit.edu 37 5 161524718 161524718 + Silent SNP C C T TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr5:161524718C>T ENST00000356592.3 + 4 862 c.402C>T c.(400-402)gtC>gtT p.V134V GABRG2_ENST00000361925.4_Silent_p.V134V|GABRG2_ENST00000414552.2_Silent_p.V134V|GABRG2_ENST00000393933.4_Silent_p.V39V NM_000816.3|NM_198904.2 NP_000807.2|NP_944494.1 P18507 GBRG2_HUMAN gamma-aminobutyric acid (GABA) A receptor, gamma 2 134 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 62 Renal(175;0.000319) Medulloblastoma(196;0.0208)|all_neural(177;0.0672) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136) CCATTAAAGTCCTCCGATTGA 0.378000 30 128 0 0 1 0 0 ALOX12B 242 broad.mit.edu 37 17 7983140 7983140 + Missense_Mutation SNP C C T TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr17:7983140C>T ENST00000319144.4 - 7 1134 c.874G>A c.(874-876)Gac>Aac p.D292N AC129492.6_ENST00000399413.3_5'UTR NM_001139.2 NP_001130.1 O75342 LX12B_HUMAN arachidonate 12-lipoxygenase, 12R type 292 Lipoxygenase. epidermis development|leukotriene biosynthetic process arachidonate 12-lipoxygenase activity|iron ion binding|lipoxygenase activity endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|stomach(1) 16 GCCACCATGTCGTCTGTGACG 0.677000 Multiple Myeloma(8;0.094) 13 35 0 0 1 0 0 DCSTAMP 81501 broad.mit.edu 37 8 105367308 105367308 + Silent SNP C C T TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr8:105367308C>T ENST00000297581.2 + 3 1282 c.1233C>T c.(1231-1233)agC>agT p.S411S DPYS_ENST00000521601.1_Intron|DCSTAMP_ENST00000517991.1_Intron|DCSTAMP_ENST00000520080.1_3'UTR NM_030788.3 NP_110415.1 Q9H295 TM7S4_HUMAN dendrocyte expressed seven transmembrane protein 411 osteoclast differentiation cell surface|integral to membrane|plasma membrane p.S411R(1) TCTACCCCAGCGTGGAGAGGA 0.438000 36 242 0 0 1 0 0 CLMN 79789 broad.mit.edu 37 14 95670229 95670229 + Missense_Mutation SNP G G A TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr14:95670229G>A ENST00000298912.4 - 9 1570 c.1457C>T c.(1456-1458)tCt>tTt p.S486F NM_024734.3 NP_079010.2 Q96JQ2 CLMN_HUMAN calmin (calponin-like, transmembrane) 486 integral to membrane actin binding central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(17)|prostate(3)|skin(3) 44 Epithelial(152;0.193) GACCTTGTCAGAGGAGGATTC 0.468000 25 50 0 0 1 0 0 MEF2C 4208 broad.mit.edu 37 5 88018491 88018491 + Missense_Mutation SNP C C T TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr5:88018491C>T ENST00000504921.2 - 10 2024 c.1352G>A c.(1351-1353)aGa>aAa p.R451K MEF2C_ENST00000340208.5_Missense_Mutation_p.R461K|MEF2C_ENST00000506554.1_3'UTR|MEF2C_ENST00000514015.1_Missense_Mutation_p.R419K|MEF2C_ENST00000539796.1_Missense_Mutation_p.R395K|CTC-467M3.1_ENST00000510274.1_RNA|MEF2C_ENST00000437473.2_Missense_Mutation_p.R451K|MEF2C_ENST00000510942.1_Missense_Mutation_p.R443K|MEF2C_ENST00000508569.1_Missense_Mutation_p.R411K|MEF2C_ENST00000514028.1_Missense_Mutation_p.R451K|MEF2C_ENST00000424173.2_Missense_Mutation_p.R441K Q06413 MEF2C_HUMAN myocyte enhancer factor 2C 451 apoptosis|B cell proliferation|innate immune response|learning or memory|muscle cell differentiation|muscle organ development|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|neuron development|positive regulation of muscle cell differentiation|positive regulation of survival gene product expression|positive regulation of transcription from RNA polymerase II promoter|regulation of germinal center formation|regulation of megakaryocyte differentiation|regulation of synaptic activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway nuclear speck activating transcription factor binding|protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding breast(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 40 all_cancers(142;6.67e-05)|all_epithelial(76;7.77e-07)|Lung NSC(167;0.00566)|all_lung(232;0.00732)|Colorectal(57;0.0959)|Ovarian(174;0.1) OV - Ovarian serous cystadenocarcinoma(54;1.04e-33)|Epithelial(54;1.6e-28)|all cancers(79;2.9e-25) CGGCGAAGGTCTGGTGAGTCC 0.498000 HNSCC(66;0.2) 66 251 0 0 1 0 0 TM9SF3 56889 broad.mit.edu 37 10 98311125 98311125 + Missense_Mutation SNP C C G TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr10:98311125C>G ENST00000371142.4 - 7 1052 c.836G>C c.(835-837)gGa>gCa p.G279A TM9SF3_ENST00000490192.1_5'UTR NM_020123.3 NP_064508.3 Q9HD45 TM9S3_HUMAN transmembrane 9 superfamily member 3 279 integral to membrane binding breast(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(2)|prostate(1) 15 Colorectal(252;0.158) Epithelial(162;1.84e-09)|all cancers(201;2.84e-08) AAATACATCTCCATGCACCTG 0.353000 34 157 0 0 1 0 0 CDKN2A 1029 broad.mit.edu 37 9 21971120 21971120 + Nonsense_Mutation SNP G G A rs121913388 TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr9:21971120G>A ENST00000304494.5 - 2 508 c.238C>T c.(238-240)Cga>Tga p.R80* CDKN2A_ENST00000530628.2_Missense_Mutation_p.P94L|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000579755.1_Missense_Mutation_p.P94L|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.R29*|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000361570.3_Missense_Mutation_p.P135L|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.R80* NM_000077.4 NP_000068.1 P42771 CD2A1_HUMAN cyclin-dependent kinase inhibitor 2A 80 R -> L (in a head and neck tumor).|R -> P (in CMM2; loss of CDK4 binding). cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence cytosol|nucleus cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding p.0?(1315)|p.R80*(100)|p.?(44)|p.P135L(7)|p.L65fs*38(1)|p.T79fs*37(1)|p.0(1)|p.A76fs*64(1)|p.T79fs*65(1)|p.E61_L94del(1)|p.A68fs*3(1)|p.R80fs*34(1) NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2) 4199 all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172) all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05) TGCACGGGTCGGGTGAGAGTG 0.726000 R80*(HSC4_UPPER_AERODIGESTIVE_TRACT)|R80*(MEWO_SKIN) 17 HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07) 10 12 0 0 1 0 0 TTLL2 83887 broad.mit.edu 37 6 167754382 167754382 + Missense_Mutation SNP C C T TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr6:167754382C>T ENST00000239587.5 + 3 1082 c.994C>T c.(994-996)Cgt>Tgt p.R332C NM_031949.4 NP_114155.4 Q9BWV7 TTLL2_HUMAN tubulin tyrosine ligase-like family, member 2 332 TTL. protein modification process ATP binding|tubulin-tyrosine ligase activity central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 Breast(66;7.8e-06)|Ovarian(120;0.024) OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492) TTCCTACCTTCGTAGCTGGGA 0.463000 81 256 0 0 1 0 0 NIPBL 25836 broad.mit.edu 37 5 36985741 36985741 + Missense_Mutation SNP A A G TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr5:36985741A>G ENST00000282516.8 + 10 2958 c.2459A>G c.(2458-2460)aAt>aGt p.N820S NIPBL_ENST00000448238.2_Missense_Mutation_p.N820S|NIPBL_ENST00000504430.1_3'UTR NM_015384.4|NM_133433.3 NP_056199.2|NP_597677.2 Q6KC79 NIPBL_HUMAN Nipped-B homolog (Drosophila) 820 brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis SMC loading complex chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4) 128 all_lung(31;0.000447)|Hepatocellular(1;0.108) Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202) GACCATGATAATAAACAAAAA 0.438000 6 129 0 0 1 0 0 DCHS2 54798 broad.mit.edu 37 4 155256201 155256201 + Silent SNP C C T TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr4:155256201C>T ENST00000357232.3 - 8 1034 c.1035G>A c.(1033-1035)ttG>ttA p.L345L DCHS2_ENST00000339452.1_Silent_p.L844L|DCHS2_ENST00000507542.1_5'UTR NM_017639.3 NP_060109.2 Q6V1P9 PCD23_HUMAN dachsous cadherin-related 2 345 Cadherin 2. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 176 all_hematologic(180;0.208) Renal(120;0.0854) LUSC - Lung squamous cell carcinoma(193;0.107) CAGAGACCATCAACGAAAGTG 0.408000 25 90 0 0 1 0 0 OR52J3 119679 broad.mit.edu 37 11 5068023 5068023 + Missense_Mutation SNP G G C TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr11:5068023G>C ENST00000380370.1 + 1 268 c.268G>C c.(268-270)Gat>Cat p.D90H NM_001001916.2 NP_001001916.2 Q8NH60 O52J3_HUMAN olfactory receptor, family 52, subfamily J, member 3 90 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(1)|kidney(6)|large_intestine(6)|lung(19)|ovary(1)|skin(2) 36 Medulloblastoma(188;0.00131)|all_neural(188;0.0189)|Breast(177;0.0204) Epithelial(150;9.29e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.19) CTTCTGGTTTGATGCTCACGA 0.498000 19 112 0 0 1 0 0 MGAM 8972 broad.mit.edu 37 7 141765212 141765212 + Missense_Mutation SNP G G C TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr7:141765212G>C ENST00000475668.2 + 38 4616 c.4562G>C c.(4561-4563)gGa>gCa p.G1521A MGAM_ENST00000549489.2_Missense_Mutation_p.G1521A O43451 MGA_HUMAN maltase-glucoamylase (alpha-glucosidase) 1521 Glucoamylase. polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2) 13 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) CGCTGGGCAGGACATTGGCTG 0.622000 4 11 0 0 1 0 0 SYNE3 161176 broad.mit.edu 37 14 95906119 95906119 + Missense_Mutation SNP C C A TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr14:95906119C>A ENST00000334258.5 - 12 2090 c.2076G>T c.(2074-2076)agG>agT p.R692S SYNE3_ENST00000554873.1_Missense_Mutation_p.R449S|SYNE3_ENST00000557275.1_Missense_Mutation_p.R692S NM_152592.3 NP_689805.3 spectrin repeat containing, nuclear envelope family member 3 breast(1)|endometrium(2)|lung(25) 28 CTGCCACCAGCCTCTAAAGGA 0.607000 24 63 3.01185e-09 3.20706e-09 1 1 0 TUBB4A 10382 broad.mit.edu 37 19 6501305 6501305 + Missense_Mutation SNP G G C TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr19:6501305G>C ENST00000264071.2 - 3 641 c.270C>G c.(268-270)ttC>ttG p.F90L TUBB4A_ENST00000598006.1_Missense_Mutation_p.S76W|TUBB4A_ENST00000596926.1_Missense_Mutation_p.F90L|TUBB4A_ENST00000601152.1_Missense_Mutation_p.S65W|TUBB4A_ENST00000540257.1_Missense_Mutation_p.F90L P04350 TBB4_HUMAN tubulin, beta 4A class IVa 90 'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization cytosol|microtubule GTP binding|GTPase activity|protein binding|structural molecule activity CACCAAACACGAAGTTGTCCG 0.592000 11 57 0 0 1 0 0 PCDH9 5101 broad.mit.edu 37 13 67800883 67800883 + Missense_Mutation SNP C C A TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr13:67800883C>A ENST00000544246.1 - 2 2381 c.1690G>T c.(1690-1692)Gat>Tat p.D564Y PCDH9_ENST00000328454.5_Missense_Mutation_p.D564Y|PCDH9_ENST00000456367.1_Missense_Mutation_p.D564Y|PCDH9_ENST00000377861.3_Missense_Mutation_p.D564Y|PCDH9_ENST00000377865.2_Missense_Mutation_p.D564Y NM_203487.2 NP_982354.1 Q9HC56 PCDH9_HUMAN protocadherin 9 564 Cadherin 5. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3) 103 Hepatocellular(98;0.0906)|Breast(118;0.107) GBM - Glioblastoma multiforme(99;0.00819) TCATTCTCATCCAGAACAGTA 0.428000 33 155 1.74807e-11 1.88759e-11 1 1 0 AMOTL2 51421 broad.mit.edu 37 3 134086483 134086483 + Silent SNP G G A TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr3:134086483G>A ENST00000514516.1 - 3 1249 c.1071C>T c.(1069-1071)gcC>gcT p.A357A AMOTL2_ENST00000249883.5_Silent_p.A299A|AMOTL2_ENST00000422605.2_Silent_p.A299A|AMOTL2_ENST00000513145.1_Silent_p.A299A NM_001278683.1 NP_001265612.1 Q9Y2J4 AMOL2_HUMAN angiomotin like 2 299 endometrium(8)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 19 AGGAGGCCTGGGCACTCACTG 0.667000 27 88 0 0 1 0 0 SH3RF2 153769 broad.mit.edu 37 5 145379752 145379752 + Silent SNP C C T rs137960488 TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr5:145379752C>T ENST00000511217.1 + 2 562 c.510C>T c.(508-510)atC>atT p.I170I SH3RF2_ENST00000359120.4_Silent_p.I170I Q8TEC5 SH3R2_HUMAN SH3 domain containing ring finger 2 170 SH3 1. ligase activity|protein phosphatase 1 binding|zinc ion binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1) 22 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) TCAATGGCATCAGCGGGAACT 0.567000 19 81 0 0 1 0 0 CDK17 5128 broad.mit.edu 37 12 96691104 96691104 + Missense_Mutation SNP C C G TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr12:96691104C>G ENST00000261211.3 - 9 1420 c.817G>C c.(817-819)Gac>Cac p.D273H CDK17_ENST00000553042.1_5'UTR|CDK17_ENST00000543119.2_Missense_Mutation_p.D273H|CDK17_ENST00000542666.1_Missense_Mutation_p.D220H NM_001170464.2|NM_002595.4 NP_001163935.1|NP_002586.2 Q00537 CDK17_HUMAN cyclin-dependent kinase 17 273 Protein kinase. ATP binding|cyclin-dependent protein kinase activity breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(6)|lung(11)|ovary(4)|prostate(2)|skin(1) 37 TGTTTCAGGTCTTTATCCTGG 0.338000 9 67 0 0 1 0 0 COX11 1353 broad.mit.edu 37 17 53040725 53040725 + Missense_Mutation SNP C C G TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr17:53040725C>G ENST00000299335.3 - 3 728 c.590G>C c.(589-591)gGa>gCa p.G197A COX11_ENST00000571584.1_Missense_Mutation_p.G197A NM_004375.3 NP_004366.1 Q9Y6N1 COX11_HUMAN cytochrome c oxidase assembly homolog 11 (yeast) 197 respiratory chain complex IV assembly|respiratory gaseous exchange integral to membrane|mitochondrial inner membrane copper ion binding|cytochrome-c oxidase activity|electron carrier activity endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(2)|ovary(1)|prostate(1) 9 TGTAGAAATTCCAATTACTGG 0.323000 26 94 0 0 1 0 0 ALPL 249 broad.mit.edu 37 1 21903944 21903944 + Missense_Mutation SNP G G T TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr1:21903944G>T ENST00000374840.3 + 12 1628 c.1378G>T c.(1378-1380)Gcc>Tcc p.A460S ALPL_ENST00000374832.1_Missense_Mutation_p.A460S|ALPL_ENST00000425315.2_Missense_Mutation_p.A460S|ALPL_ENST00000374829.1_Missense_Mutation_p.A106S|ALPL_ENST00000374830.1_Missense_Mutation_p.A106S|ALPL_ENST00000540617.1_Missense_Mutation_p.A405S|ALPL_ENST00000539907.1_Missense_Mutation_p.A383S NM_000478.4 NP_000469.3 P05186 PPBT_HUMAN alkaline phosphatase, liver/bone/kidney 460 response to vitamin D|skeletal system development anchored to membrane|cytoplasm|integral to membrane|plasma membrane alkaline phosphatase activity|metal ion binding breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 26 all_lung(284;2.19e-05)|Lung NSC(340;2.22e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;8.7e-28)|COAD - Colon adenocarcinoma(152;1.57e-05)|GBM - Glioblastoma multiforme(114;2.66e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000177)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00856)|READ - Rectum adenocarcinoma(331;0.0623)|Lung(427;0.146) Amifostine(DB01143) GGAGGACGTGGCCGTCTTCTC 0.667000 7 66 2.7689e-08 2.93477e-08 1 1 0 USH2A 7399 broad.mit.edu 37 1 215848871 215848872 + Frame_Shift_Del DEL AG AG - TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr1:215848871_215848872delAG ENST00000366943.2 - 63 12767_12768 c.12381_12382delCT c.(12379-12384)ctacfs p.LY4127fs USH2A_ENST00000307340.3_Frame_Shift_Del_p.LY4127fs O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 4127 Fibronectin type-III 26. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) GTCAGTGTGTAGAGAGTGAAAG 0.559 HNSCC(13;0.011) 15 41 --- --- --- --- BIRC6 57448 broad.mit.edu 37 2 32641134 32641153 + Frame_Shift_Del DEL AGTGGAGCCTCCCAAAAAGG AGTGGAGCCTCCCAAAAAGG - TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr2:32641134_32641153delAGTGGAGCCTCCCAAAAAGG ENST00000421745.2 + 10 2909_2928 c.2775_2794delAGTGGAGCCTCCCAAAAAGG c.(2773-2796)aaagfs p.KVEPPKKE925fs NM_016252.3 NP_057336.3 Q9NR09 BIRC6_HUMAN baculoviral IAP repeat containing 6 925 anti-apoptosis|apoptosis intracellular acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5) 172 Acute lymphoblastic leukemia(172;0.155) TTTTGGCCAAAGTGGAGCCTCCCAAAAAGGAGGGCACTGA 0.414 18 140 --- --- --- --- ANKRD36C 400986 broad.mit.edu 37 2 96525717 96525718 + Frame_Shift_Ins INS - - T rs77057279 by1000genomes TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr2:96525717_96525718insT ENST00000456556.1 - 61 3871_3872 c.3787_3788insA c.(3787-3789)gaafs p.E1263fs ANKRD36C_ENST00000419039.2_Frame_Shift_Ins_p.E290fs|ANKRD36C_ENST00000420871.2_Frame_Shift_Ins_p.E514fs ankyrin repeat domain 36C breast(1)|endometrium(8)|kidney(5)|lung(4) 18 CTTATTTTTCAGTTTTCGAATT 0.282 2 4 --- --- --- --- SDHAP1 255812 broad.mit.edu 37 3 195713385 195713386 + RNA INS - - T TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr3:195713385_195713386insT ENST00000427841.1 - 0 176 NR_003264.2 AAAGCATGAACTTACGGAATCT 0.401 8 32 --- --- --- --- CRIPAK 285464 broad.mit.edu 37 4 1389054 1389055 + Frame_Shift_Ins INS - - CA rs71299249 TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr4:1389054_1389055insCA ENST00000324803.4 + 1 3715_3716 c.755_756insCA c.(754-756)cacfs p.H252fs NM_175918.3 NP_787114.2 Q8N1N5 CRPAK_HUMAN cysteine-rich PAK1 inhibitor 252 ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus endoplasmic reticulum|nucleus|plasma membrane protein binding p.C254fs*176(1) NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1) 35 OV - Ovarian serous cystadenocarcinoma(23;0.0106) GCCCGCCTGCTCACGTGCCGAT 0.693 12 238 --- --- --- --- TCF7 6932 broad.mit.edu 37 5 133473764 133473765 + Frame_Shift_Ins INS - - C TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr5:133473764_133473765insC ENST00000395029.1 + 4 651_652 c.456_457insC c.(454-459)caccccfs p.HP152fs TCF7_ENST00000432532.2_Frame_Shift_Ins_p.HP37fs|TCF7_ENST00000395023.1_Frame_Shift_Ins_p.HP37fs|TCF7_ENST00000520958.1_Frame_Shift_Ins_p.HP37fs|TCF7_ENST00000321584.4_Frame_Shift_Ins_p.HP152fs|TCF7_ENST00000518915.1_Frame_Shift_Ins_p.HP37fs|TCF7_ENST00000378560.4_Frame_Shift_Ins_p.HP37fs|TCF7_ENST00000378564.1_Frame_Shift_Ins_p.HP152fs|TCF7_ENST00000342854.5_Frame_Shift_Ins_p.HP152fs|TCF7_ENST00000321603.6_Frame_Shift_Ins_p.HP152fs P36402 TCF7_HUMAN transcription factor 7 (T-cell specific, HMG-box) 152 cellular response to interleukin-4|immune response|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|Wnt receptor signaling pathway nucleus protein binding|transcription regulatory region DNA binding kidney(2)|large_intestine(7)|lung(2)|skin(1) 12 Breast(839;0.058) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) AGGCCAATCAGCCCCCCCACGG 0.574 14 113 --- --- --- --- MICALCL 84953 broad.mit.edu 37 11 12316387 12316389 + In_Frame_Del DEL CTA CTA - rs3812754 byFrequency TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr11:12316387_12316389delCTA ENST00000256186.2 + 3 1700_1702 c.1409_1411delCTA c.(1408-1413)cca>c p.PT470del NM_032867.2 NP_116256.2 Q6ZW33 MICLK_HUMAN MICAL C-terminal like 470 Poly-Pro. cell differentiation|multicellular organismal development|spermatogenesis cytoplasm mitogen-activated protein kinase binding p.T471delT(2) breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1) 30 Epithelial(150;0.00177) cctcctcctcctACAGCGGGAGG 0.576 24 7 --- --- --- --- ZNF319 57567 broad.mit.edu 37 16 58031982 58031982 + Frame_Shift_Del DEL G G - TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr16:58031982delG ENST00000299237.2 - 2 810 c.188delC c.(187-189)cafs p.P63fs NM_020807.1 NP_065858.1 Q9P2F9 ZN319_HUMAN zinc finger protein 319 63 Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(2)|lung(4)|ovary(1)|urinary_tract(1) 8 TGCGTGTTGTGGGGGCTGCAG 0.687 20 62 --- --- --- --- ERF 2077 broad.mit.edu 37 19 42753731 42753732 + Frame_Shift_Ins INS - - C TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a47fa4-c857-4483-9572-07012c10e9d5 f7632fc3-3c2c-424e-84a7-51bea026ebf5 g.chr19:42753731_42753732insC ENST00000222329.4 - 4 689_690 c.532_533insG c.(532-534)ccgfs p.P178fs AC006486.9_ENST00000594664.1_Intron|ERF_ENST00000440177.2_Frame_Shift_Ins_p.P103fs NM_006494.2 NP_006485.2 P50548 ERF_HUMAN Ets2 repressor factor 178 cell proliferation|regulation of transcription from RNA polymerase II promoter nucleus ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1) 17 Prostate(69;0.00682) CAGGCGGCGGGCCACCACAGCC 0.678 8 94 --- --- --- ---