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 SYNM 23336 broad.mit.edu 37 15 99670214 99670214 + Missense_Mutation SNP G G C TCGA-P3-A6T7-01A-11D-A34J-08 TCGA-P3-A6T7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e651382-e28e-459c-9c96-796eb5bc714c f5db598d-2bc7-4b41-af84-47bf5309f13a g.chr15:99670214G>C ENST00000336292.6 + 5 1766 c.1646G>C c.(1645-1647)aGa>aCa p.R549T SYNM_ENST00000328642.7_Missense_Mutation_p.R549T|SYNM_ENST00000560674.1_Missense_Mutation_p.R264T|RP11-6O2.4_ENST00000566974.1_RNA|SYNM_ENST00000561323.1_3'UTR NM_145728.2 NP_663780.2 O15061 SYNEM_HUMAN synemin, intermediate filament protein 550 Tail. intermediate filament cytoskeleton organization adherens junction|costamere|intermediate filament|neurofilament cytoskeleton intermediate filament binding|structural constituent of cytoskeleton|structural constituent of muscle|vinculin binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(6)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1) 29 AAGGAAGCGAGACAGAGAGAA 0.463000 5 27 0 0 1 0 0 NFE2L3 9603 broad.mit.edu 37 7 26224372 26224372 + Missense_Mutation SNP C C A TCGA-P3-A6T7-01A-11D-A34J-08 TCGA-P3-A6T7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e651382-e28e-459c-9c96-796eb5bc714c f5db598d-2bc7-4b41-af84-47bf5309f13a g.chr7:26224372C>A ENST00000056233.3 + 4 1313 c.1054C>A c.(1054-1056)Cct>Act p.P352T NM_004289.6 NP_004280.5 Q9Y4A8 NF2L3_HUMAN nuclear factor, erythroid 2-like 3 352 transcription from RNA polymerase II promoter nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(5)|urinary_tract(7) 29 TACCACCAATCCTGAGCAAAC 0.408000 35 125 6.50621e-10 6.8973e-10 1 1 0 FANCM 57697 broad.mit.edu 37 14 45644788 45644788 + Missense_Mutation SNP C C G TCGA-P3-A6T7-01A-11D-A34J-08 TCGA-P3-A6T7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e651382-e28e-459c-9c96-796eb5bc714c f5db598d-2bc7-4b41-af84-47bf5309f13a g.chr14:45644788C>G ENST00000267430.5 + 14 2916 c.2831C>G c.(2830-2832)tCt>tGt p.S944C FANCM_ENST00000542564.2_Missense_Mutation_p.S918C NM_020937.2 NP_065988.1 Q8IYD8 FANCM_HUMAN Fanconi anemia, complementation group M 944 DNA repair Fanconi anaemia nuclear complex ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 85 GTTTTAGATTCTGGTTATAAC 0.289000 Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 70 115 0 0 1 0 0 OR5AS1 219447 broad.mit.edu 37 11 55798196 55798196 + Missense_Mutation SNP T T A TCGA-P3-A6T7-01A-11D-A34J-08 TCGA-P3-A6T7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e651382-e28e-459c-9c96-796eb5bc714c f5db598d-2bc7-4b41-af84-47bf5309f13a g.chr11:55798196T>A ENST00000313555.1 + 1 302 c.302T>A c.(301-303)aTg>aAg p.M101K NM_001001921.1 NP_001001921.1 Q8N127 O5AS1_HUMAN olfactory receptor, family 5, subfamily AS, member 1 101 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1) 48 Esophageal squamous(21;0.00693) GCACTACAAATGTTTTTCTTC 0.453000 22 83 0 0 1 0 0 NFE2L1 4779 broad.mit.edu 37 17 46136934 46136934 + Silent SNP C C T TCGA-P3-A6T7-01A-11D-A34J-08 TCGA-P3-A6T7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e651382-e28e-459c-9c96-796eb5bc714c f5db598d-2bc7-4b41-af84-47bf5309f13a g.chr17:46136934C>T ENST00000362042.3 + 6 2866 c.2250C>T c.(2248-2250)ctC>ctT p.L750L NFE2L1_ENST00000582155.1_Silent_p.L562L|NFE2L1_ENST00000583378.1_Silent_p.L551L|NFE2L1_ENST00000536222.1_Silent_p.L594L|NFE2L1_ENST00000361665.3_Silent_p.L739L|NFE2L1_ENST00000357480.5_Silent_p.L720L|NFE2L1_ENST00000585291.1_Silent_p.L720L NM_003204.2 NP_003195.1 Q14494 NF2L1_HUMAN nuclear factor, erythroid 2-like 1 750 anatomical structure morphogenesis|heme biosynthetic process|inflammatory response|transcription from RNA polymerase II promoter nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity cervix(1)|endometrium(3)|kidney(9)|large_intestine(7)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 GTGTCCTCCTCATCCCCCGCA 0.647000 33 47 0 0 1 0 0 HSP90AB2P 391634 broad.mit.edu 37 4 13338406 13338406 + RNA SNP A A G TCGA-P3-A6T7-01A-11D-A34J-08 TCGA-P3-A6T7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e651382-e28e-459c-9c96-796eb5bc714c f5db598d-2bc7-4b41-af84-47bf5309f13a g.chr4:13338406A>G ENST00000602906.1 + 0 424 kidney(3)|lung(1) 4 TCTCATAAATAATTTGGGAAC 0.428000 27 81 0 0 1 0 0 HES6 55502 broad.mit.edu 37 2 239147933 239147933 + Missense_Mutation SNP G G T TCGA-P3-A6T7-01A-11D-A34J-08 TCGA-P3-A6T7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e651382-e28e-459c-9c96-796eb5bc714c f5db598d-2bc7-4b41-af84-47bf5309f13a g.chr2:239147933G>T ENST00000409160.3 - 3 577 c.445C>A c.(445-447)Cgc>Agc p.R149S HES6_ENST00000409002.3_Intron|AC096574.4_ENST00000456601.1_RNA|HES6_ENST00000409574.1_Intron|HES6_ENST00000272937.5_Intron|HES6_ENST00000409182.1_Intron|HES6_ENST00000409356.1_Intron NM_001142853.1|NM_018645.4 NP_001136325.1|NP_061115.2 Q96HZ4 HES6_HUMAN hes family bHLH transcription factor 6 0 cell differentiation transcription factor complex DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity lung(1)|skin(1) 2 Breast(86;0.000523)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182) Epithelial(121;3.23e-24)|OV - Ovarian serous cystadenocarcinoma(60;7.29e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.19e-08)|BRCA - Breast invasive adenocarcinoma(100;5.98e-05)|Lung(119;0.0086)|LUSC - Lung squamous cell carcinoma(224;0.0148) CGTCCCGCGCGGTGAGCGGCG 0.771000 5 11 4.096e-09 4.27217e-09 1 1 0 KCNK5 8645 broad.mit.edu 37 6 39161971 39161971 + Missense_Mutation SNP G G T TCGA-P3-A6T7-01A-11D-A34J-08 TCGA-P3-A6T7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e651382-e28e-459c-9c96-796eb5bc714c f5db598d-2bc7-4b41-af84-47bf5309f13a g.chr6:39161971G>T ENST00000359534.3 - 4 946 c.608C>A c.(607-609)aCc>aAc p.T203N NM_003740.3 NP_003731.1 O95279 KCNK5_HUMAN potassium channel, subfamily K, member 5 203 excretion integral to plasma membrane potassium channel activity|voltage-gated ion channel activity central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(4)|skin(3) 19 GAAGCCGATGGTGGAGATGGT 0.552000 15 64 4.14922e-12 4.44723e-12 1 1 0 CIITA 4261 broad.mit.edu 37 16 11010264 11010264 + Missense_Mutation SNP G G T TCGA-P3-A6T7-01A-11D-A34J-08 TCGA-P3-A6T7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e651382-e28e-459c-9c96-796eb5bc714c f5db598d-2bc7-4b41-af84-47bf5309f13a g.chr16:11010264G>T ENST00000324288.8 + 15 3143 c.3010G>T c.(3010-3012)Gtc>Ttc p.V1004F CIITA_ENST00000381835.5_Missense_Mutation_p.V420F NM_000246.3 NP_000237.2 P33076 C2TA_HUMAN class II, major histocompatibility complex, transactivator 1004 interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent nucleus activating transcription factor binding|ATP binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2) 12 GGACGAGGGTGTCTCGCAGCT 0.617000 T """FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6""" """PMBL, Hodgkin Lymphona, """ 6 23 0.00116845 0.0011868 1 1 0 PKHD1L1 93035 broad.mit.edu 37 8 110516713 110516713 + Silent SNP T T C TCGA-P3-A6T7-01A-11D-A34J-08 TCGA-P3-A6T7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e651382-e28e-459c-9c96-796eb5bc714c f5db598d-2bc7-4b41-af84-47bf5309f13a g.chr8:110516713T>C ENST00000378402.5 + 68 11090 c.10986T>C c.(10984-10986)ccT>ccC p.P3662P NM_177531.4 NP_803875.2 Q86WI1 PKHL1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 3662 immune response cytosol|extracellular space|integral to membrane receptor activity NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4) 263 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) TACATAGGCCTGATATAAGGT 0.303000 HNSCC(38;0.096) 11 22 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179594238 179594238 + Silent SNP G G A TCGA-P3-A6T7-01A-11D-A34J-08 TCGA-P3-A6T7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e651382-e28e-459c-9c96-796eb5bc714c f5db598d-2bc7-4b41-af84-47bf5309f13a g.chr2:179594238G>A ENST00000589042.1 - 64 18869 c.18645C>T c.(18643-18645)gaC>gaT p.D6215D TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Silent_p.D4971D|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Silent_p.D5898D|TTN-AS1_ENST00000585451.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 5898 Ig-like 43. 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) CCAGCTCCACGTCACTATATT 0.453000 55 63 0 0 1 0 0 CHRNG 1146 broad.mit.edu 37 2 233410327 233410327 + Missense_Mutation SNP C C G TCGA-P3-A6T7-01A-11D-A34J-08 TCGA-P3-A6T7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e651382-e28e-459c-9c96-796eb5bc714c f5db598d-2bc7-4b41-af84-47bf5309f13a g.chr2:233410327C>G ENST00000389494.3 + 12 1476 c.1455C>G c.(1453-1455)atC>atG p.I485M CHRNG_ENST00000389492.3_Missense_Mutation_p.I433M NM_005199.4 NP_005190.4 P07510 ACHG_HUMAN cholinergic receptor, nicotinic, gamma (muscle) 485 muscle contraction cell junction|postsynaptic membrane acetylcholine receptor activity breast(2)|endometrium(3)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1) 22 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Epithelial(121;6.39e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00079)|LUSC - Lung squamous cell carcinoma(224;0.00757)|Lung(119;0.0086) CGCTCTTCATCTGTGGCACAG 0.637000 39 32 0 0 1 0 0 HECTD1 25831 broad.mit.edu 37 14 31576780 31576780 + Missense_Mutation SNP G G C TCGA-P3-A6T7-01A-11D-A34J-08 TCGA-P3-A6T7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e651382-e28e-459c-9c96-796eb5bc714c f5db598d-2bc7-4b41-af84-47bf5309f13a g.chr14:31576780G>C ENST00000399332.1 - 37 7099 c.6611C>G c.(6610-6612)tCt>tGt p.S2204C HECTD1_ENST00000553700.1_Missense_Mutation_p.S2204C NM_015382.2 NP_056197.2 Q9ULT8 HECD1_HUMAN HECT domain containing E3 ubiquitin protein ligase 1 2204 HECT. protein ubiquitination involved in ubiquitin-dependent protein catabolic process intracellular metal ion binding|protein binding|ubiquitin-protein ligase activity breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 70 Hepatocellular(127;0.0877)|Breast(36;0.176) LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173) GBM - Glioblastoma multiforme(265;0.00617) TACGTGACGAGATTCATCATC 0.398000 40 54 0 0 1 0 0 OR5M3 219482 broad.mit.edu 37 11 56237461 56237461 + Missense_Mutation SNP C C G TCGA-P3-A6T7-01A-11D-A34J-08 TCGA-P3-A6T7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e651382-e28e-459c-9c96-796eb5bc714c f5db598d-2bc7-4b41-af84-47bf5309f13a g.chr11:56237461C>G ENST00000312240.2 - 1 553 c.513G>C c.(511-513)gaG>gaC p.E171D NM_001004742.2 NP_001004742.2 Q8NGP4 OR5M3_HUMAN olfactory receptor, family 5, subfamily M, member 3 171 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(15)|ovary(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 37 Esophageal squamous(21;0.00448) AATGGTTGATCTCAATTTTTC 0.403000 36 121 0 0 1 0 0 SLC9A6 10479 broad.mit.edu 37 X 135106525 135106525 + Missense_Mutation SNP G G A TCGA-P3-A6T7-01A-11D-A34J-08 TCGA-P3-A6T7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e651382-e28e-459c-9c96-796eb5bc714c f5db598d-2bc7-4b41-af84-47bf5309f13a g.chrX:135106525G>A ENST00000370695.4 + 12 1534 c.1499G>A c.(1498-1500)cGa>cAa p.R500Q SLC9A6_ENST00000370701.1_Missense_Mutation_p.R448Q|SLC9A6_ENST00000370698.3_Missense_Mutation_p.R468Q NM_001042537.1 NP_001036002.1 Q92581 SL9A6_HUMAN solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6 468 regulation of pH early endosome membrane|endoplasmic reticulum membrane|integral to membrane|microsome|plasma membrane|recycling endosome membrane sodium:hydrogen antiporter activity central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(18)|ovary(2)|upper_aerodigestive_tract(1) 33 Acute lymphoblastic leukemia(192;0.000127) TTGGCCATTCGAGATACTGCC 0.453000 32 26 0 0 1 0 0 TRABD2A 129293 broad.mit.edu 37 2 85097547 85097547 + Silent SNP G G A TCGA-P3-A6T7-01A-11D-A34J-08 TCGA-P3-A6T7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e651382-e28e-459c-9c96-796eb5bc714c f5db598d-2bc7-4b41-af84-47bf5309f13a g.chr2:85097547G>A ENST00000335459.5 - 2 676 c.471C>T c.(469-471)gcC>gcT p.A157A TRABD2A_ENST00000409520.2_Silent_p.A157A|TRABD2A_ENST00000409133.1_Silent_p.A157A NM_001080824.1 NP_001074293.1 TraB domain containing 2A CCCAGTTTCCGGCAATAGCAT 0.562000 21 101 0 0 1 0 0 WTAP 9589 broad.mit.edu 37 6 160176183 160176183 + Missense_Mutation SNP C C G TCGA-P3-A6T7-01A-11D-A34J-08 TCGA-P3-A6T7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e651382-e28e-459c-9c96-796eb5bc714c f5db598d-2bc7-4b41-af84-47bf5309f13a g.chr6:160176183C>G ENST00000358372.4 + 8 2488 c.731C>G c.(730-732)tCt>tGt p.S244C SOD2_ENST00000546087.1_Intron NM_001270531.1|NM_004906.4 NP_001257460.1|NP_004897.2 Q15007 FL2D_HUMAN Wilms tumor 1 associated protein 244 cell cycle|mRNA processing|RNA splicing nuclear membrane|nucleolus central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)|skin(1)|urinary_tract(1) 18 Breast(66;0.000776)|Ovarian(120;0.0303) OV - Ovarian serous cystadenocarcinoma(65;1.75e-18)|BRCA - Breast invasive adenocarcinoma(81;5.93e-06) CAGCAGCAGTCTCAGGCCTCT 0.527000 14 33 0 0 1 0 0 ANK3 288 broad.mit.edu 37 10 61833595 61833595 + Silent SNP T T C TCGA-P3-A6T7-01A-11D-A34J-08 TCGA-P3-A6T7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e651382-e28e-459c-9c96-796eb5bc714c f5db598d-2bc7-4b41-af84-47bf5309f13a g.chr10:61833595T>C ENST00000280772.1 - 37 7235 c.7044A>G c.(7042-7044)agA>agG p.R2348R ANK3_ENST00000503366.1_Intron|ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_Intron NM_020987.3 NP_066267.2 Q12955 ANK3_HUMAN ankyrin 3, node of Ranvier (ankyrin G) 2348 establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 196 TTTTGGTTTCTCTAATAATGA 0.383000 38 119 0 0 1 0 0 TUBGCP5 114791 broad.mit.edu 37 15 22861781 22861781 + Missense_Mutation SNP C C A TCGA-P3-A6T7-01A-11D-A34J-08 TCGA-P3-A6T7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e651382-e28e-459c-9c96-796eb5bc714c f5db598d-2bc7-4b41-af84-47bf5309f13a g.chr15:22861781C>A ENST00000283645.4 + 14 1931 c.1801C>A c.(1801-1803)Cag>Aag p.Q601K TUBGCP5_ENST00000559846.1_3'UTR|TUBGCP5_ENST00000453949.2_Missense_Mutation_p.Q601K NM_052903.4 NP_443135.3 Q96RT8 GCP5_HUMAN tubulin, gamma complex associated protein 5 601 G2/M transition of mitotic cell cycle|microtubule nucleation centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole microtubule binding breast(5)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(23)|prostate(1)|skin(2)|urinary_tract(1) 46 all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488) all cancers(64;2.86e-06)|Epithelial(43;2.63e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000949) GGAATCTGTACAGTCCCGTCT 0.388000 102 97 1.77486e-58 1.96756e-58 1 1 0 TMEM184B 25829 broad.mit.edu 37 22 38643838 38643838 + Missense_Mutation SNP T T C TCGA-P3-A6T7-01A-11D-A34J-08 TCGA-P3-A6T7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e651382-e28e-459c-9c96-796eb5bc714c f5db598d-2bc7-4b41-af84-47bf5309f13a g.chr22:38643838T>C ENST00000361906.3 - 2 338 c.130A>G c.(130-132)Act>Gct p.T44A TMEM184B_ENST00000361684.4_Missense_Mutation_p.T44A NM_001195072.1|NM_012264.4 NP_001182001.1|NP_036396.2 Q9Y519 T184B_HUMAN transmembrane protein 184B 44 integral to membrane endometrium(1)|large_intestine(2)|lung(2)|skin(2)|upper_aerodigestive_tract(1) 8 Melanoma(58;0.045) TGAGCGGCAGTTGTCATCAGG 0.647000 3 12 0 0 1 0 0 SLC24A5 283652 broad.mit.edu 37 15 48414190 48414190 + Silent SNP C C G TCGA-P3-A6T7-01A-11D-A34J-08 TCGA-P3-A6T7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e651382-e28e-459c-9c96-796eb5bc714c f5db598d-2bc7-4b41-af84-47bf5309f13a g.chr15:48414190C>G ENST00000482911.2 + 2 299 c.258C>G c.(256-258)gtC>gtG p.V86V SLC24A5_ENST00000341459.3_Silent_p.V86V|SLC24A5_ENST00000449382.2_Intron Q71RS6 NCKX5_HUMAN solute carrier family 24 (sodium/potassium/calcium exchanger), member 5 86 response to stimulus integral to membrane|melanosome|plasma membrane calcium, potassium:sodium antiporter activity|symporter activity cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|skin(1)|upper_aerodigestive_tract(1) 27 all_lung(180;0.00217) all cancers(107;3.29e-10)|GBM - Glioblastoma multiforme(94;7.32e-07) TATCTATTGTCTGTGATGAAT 0.443000 41 132 0 0 1 0 0 ATXN3 4287 broad.mit.edu 37 14 92563016 92563016 + Splice_Site SNP A A G TCGA-P3-A6T7-01A-11D-A34J-08 TCGA-P3-A6T7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e651382-e28e-459c-9c96-796eb5bc714c f5db598d-2bc7-4b41-af84-47bf5309f13a g.chr14:92563016A>G ENST00000545170.1 - 2 258 c.e2+1 ATXN3_ENST00000532032.1_Splice_Site|ATXN3_ENST00000393287.5_Splice_Site|ATXN3_ENST00000429774.2_Splice_Site|ATXN3_ENST00000340660.6_Intron|ATXN3_ENST00000502250.1_Intron|ATXN3_ENST00000554491.1_Splice_Site|ATXN3_ENST00000503767.1_Splice_Site NM_001164774.1|NM_001164776.1|NM_001164777.1|NM_001164778.1|NM_004993.5 NP_001158246.1|NP_001158248.1|NP_001158249.1|NP_001158250.1|NP_004984.2 P54252 ATX3_HUMAN ataxin 3 cell death|nervous system development|nucleotide-excision repair|regulation of transcription, DNA-dependent|synaptic transmission|transcription, DNA-dependent cytoplasm|nuclear matrix|nucleoplasm cysteine-type peptidase activity|protein binding endometrium(2)|large_intestine(1)|lung(7)|prostate(1)|stomach(1) 12 all_cancers(154;0.0768) COAD - Colon adenocarcinoma(157;0.224) TAAAATCAGTACCTGTAAAAA 0.433000 22 115 0 0 1 0 0 C4orf45 152940 broad.mit.edu 37 4 159894346 159894346 + Nonsense_Mutation SNP G G C TCGA-P3-A6T7-01A-11D-A34J-08 TCGA-P3-A6T7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e651382-e28e-459c-9c96-796eb5bc714c f5db598d-2bc7-4b41-af84-47bf5309f13a g.chr4:159894346G>C ENST00000434826.2 - 2 266 c.182C>G c.(181-183)tCa>tGa p.S61* C4orf45_ENST00000508011.1_5'UTR NM_152543.2 NP_689756.2 Q96LM5 CD045_HUMAN chromosome 4 open reading frame 45 61 large_intestine(2)|lung(3) 5 GCTTCTATTTGAGGCAGGCCT 0.388000 19 32 0 0 1 0 0 SYNE1 23345 broad.mit.edu 37 6 152757123 152757123 + Missense_Mutation SNP C C G TCGA-P3-A6T7-01A-11D-A34J-08 TCGA-P3-A6T7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e651382-e28e-459c-9c96-796eb5bc714c f5db598d-2bc7-4b41-af84-47bf5309f13a g.chr6:152757123C>G ENST00000367255.5 - 33 4864 c.4263G>C c.(4261-4263)aaG>aaC p.K1421N SYNE1_ENST00000367253.4_Missense_Mutation_p.K1421N|SYNE1_ENST00000413186.2_Missense_Mutation_p.K1421N|SYNE1_ENST00000423061.1_Missense_Mutation_p.K1428N|SYNE1_ENST00000448038.1_Missense_Mutation_p.K1428N|SYNE1_ENST00000367248.3_Missense_Mutation_p.K1411N|SYNE1_ENST00000341594.5_Missense_Mutation_p.K1487N|SYNE1_ENST00000265368.4_Missense_Mutation_p.K1421N NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 1421 cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) CTTTGATTGACTTGGCCTGCT 0.413000 HNSCC(10;0.0054) 25 101 0 0 1 0 0 ARID4A 5926 broad.mit.edu 37 14 58827630 58827630 + Silent SNP T T C TCGA-P3-A6T7-01A-11D-A34J-08 TCGA-P3-A6T7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e651382-e28e-459c-9c96-796eb5bc714c f5db598d-2bc7-4b41-af84-47bf5309f13a g.chr14:58827630T>C ENST00000355431.3 + 19 2323 c.1950T>C c.(1948-1950)gaT>gaC p.D650D ARID4A_ENST00000348476.3_Silent_p.D650D|ARID4A_ENST00000395168.3_Silent_p.D650D|ARID4A_ENST00000431317.2_Silent_p.D650D NM_002892.3 NP_002883.3 P29374 ARI4A_HUMAN AT rich interactive domain 4A (RBP1-like) 650 negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter transcriptional repressor complex DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(2)|central_nervous_system(1)|cervix(4)|endometrium(8)|kidney(2)|large_intestine(14)|lung(19)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 ATAAAGAAGATAGTGAAAAGG 0.388000 48 51 0 0 1 0 0 EHBP1L1 254102 broad.mit.edu 37 11 65351857 65351857 + Missense_Mutation SNP A A G TCGA-P3-A6T7-01A-11D-A34J-08 TCGA-P3-A6T7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e651382-e28e-459c-9c96-796eb5bc714c f5db598d-2bc7-4b41-af84-47bf5309f13a g.chr11:65351857A>G ENST00000309295.4 + 10 3504 c.3239A>G c.(3238-3240)tAc>tGc p.Y1080C NM_001099409.1 NP_001092879.1 Q8N3D4 EH1L1_HUMAN EH domain binding protein 1-like 1 1080 CH. central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 23 CACCGATTCTACCCAGACAAG 0.607000 29 46 0 0 1 0 0 DGAT1 8694 broad.mit.edu 37 8 145542404 145542404 + Silent SNP G G C TCGA-P3-A6T7-01A-11D-A34J-08 TCGA-P3-A6T7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e651382-e28e-459c-9c96-796eb5bc714c f5db598d-2bc7-4b41-af84-47bf5309f13a g.chr8:145542404G>C ENST00000332324.4 - 5 699 c.426C>G c.(424-426)gtC>gtG p.V142V DGAT1_ENST00000531896.1_Silent_p.V142V NM_012079.4 NP_036211.2 O75907 DGAT1_HUMAN diacylglycerol O-acyltransferase 1 142 triglyceride biosynthetic process|very-low-density lipoprotein particle assembly endoplasmic reticulum membrane|integral to membrane diacylglycerol O-acyltransferase activity breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1) 9 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;7.67e-40)|all cancers(56;7.88e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055) CCACAGCAAAGACATTGGCCG 0.627000 4 24 0 0 1 0 0 EPS15 2060 broad.mit.edu 37 1 51906049 51906049 + Missense_Mutation SNP G G A TCGA-P3-A6T7-01A-11D-A34J-08 TCGA-P3-A6T7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e651382-e28e-459c-9c96-796eb5bc714c f5db598d-2bc7-4b41-af84-47bf5309f13a g.chr1:51906049G>A ENST00000371733.3 - 12 1106 c.1010C>T c.(1009-1011)aCt>aTt p.T337I EPS15_ENST00000371730.2_Missense_Mutation_p.T337I NM_001981.2 NP_001972.1 P42566 EPS15_HUMAN epidermal growth factor receptor pathway substrate 15 337 cell proliferation|clathrin coat assembly|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|protein transport cytosol|early endosome membrane calcium ion binding|SH3 domain binding p.0?(1) endometrium(3)|kidney(5)|large_intestine(8)|lung(13)|prostate(2)|skin(1)|stomach(1)|urinary_tract(2) 35 ATTGTTAAGAGTATCTAGTTC 0.348000 T MLL ALL 20 84 0 0 1 0 0 CELSR2 1952 broad.mit.edu 37 1 109795578 109795578 + Missense_Mutation SNP G G T TCGA-P3-A6T7-01A-11D-A34J-08 TCGA-P3-A6T7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e651382-e28e-459c-9c96-796eb5bc714c f5db598d-2bc7-4b41-af84-47bf5309f13a g.chr1:109795578G>T ENST00000271332.3 + 1 2938 c.2877G>T c.(2875-2877)caG>caT p.Q959H NM_001408.2 NP_001399.1 Q9HCU4 CELR2_HUMAN cadherin, EGF LAG seven-pass G-type receptor 2 959 Cadherin 8. dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2) 82 all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244) Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219) TTATGTACCAGATTGTGGAGG 0.567000 13 181 4.3838e-07 4.52371e-07 1 1 0 PHF3 23469 broad.mit.edu 37 6 64421225 64421225 + Missense_Mutation SNP A A G TCGA-P3-A6T7-01A-11D-A34J-08 TCGA-P3-A6T7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e651382-e28e-459c-9c96-796eb5bc714c f5db598d-2bc7-4b41-af84-47bf5309f13a g.chr6:64421225A>G ENST00000262043.3 + 15 4304 c.3964A>G c.(3964-3966)Att>Gtt p.I1322V PHF3_ENST00000393387.1_Missense_Mutation_p.I1322V Q92576 PHF3_HUMAN PHD finger protein 3 1322 multicellular organismal development|transcription, DNA-dependent nucleus zinc ion binding breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6) 75 all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121) LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148) CACAGATAAAATTCCACACCC 0.408000 22 66 0 0 1 0 0 MAGEC1 9947 broad.mit.edu 37 X 140994657 140994657 + Silent SNP C C T TCGA-P3-A6T7-01A-11D-A34J-08 TCGA-P3-A6T7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e651382-e28e-459c-9c96-796eb5bc714c f5db598d-2bc7-4b41-af84-47bf5309f13a g.chrX:140994657C>T ENST00000285879.4 + 4 1753 c.1467C>T c.(1465-1467)tcC>tcT p.S489S MAGEC1_ENST00000406005.2_Intron NM_005462.4 NP_005453.2 O60732 MAGC1_HUMAN melanoma antigen family C, 1 489 protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1) 127 Acute lymphoblastic leukemia(192;6.56e-05) CCTCCTCCTCCACTTTATTGA 0.493000 HNSCC(15;0.026) 34 94 0 0 1 0 0 PLG 5340 broad.mit.edu 37 6 161127524 161127524 + Missense_Mutation SNP T T A rs1049571 TCGA-P3-A6T7-01A-11D-A34J-08 TCGA-P3-A6T7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e651382-e28e-459c-9c96-796eb5bc714c f5db598d-2bc7-4b41-af84-47bf5309f13a g.chr6:161127524T>A ENST00000308192.9 + 2 198 c.135T>A c.(133-135)agT>agA p.S45R PLG_ENST00000366924.2_Missense_Mutation_p.S45R|PLG_ENST00000462918.1_3'UTR NM_000301.3 NP_000292.1 P00747 PLMN_HUMAN plasminogen 45 PAN. extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen apolipoprotein binding|cell surface binding|serine-type endopeptidase activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1) 59 OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06) Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013) GAGCAGGAAGTATAGAAGAAT 0.483000 49 136 0 0 1 0 0 PCDHB3 56132 broad.mit.edu 37 5 140480964 140480964 + Missense_Mutation SNP A A G TCGA-P3-A6T7-01A-11D-A34J-08 TCGA-P3-A6T7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e651382-e28e-459c-9c96-796eb5bc714c f5db598d-2bc7-4b41-af84-47bf5309f13a g.chr5:140480964A>G ENST00000231130.2 + 1 731 c.731A>G c.(730-732)cAg>cGg p.Q244R AC005754.7_ENST00000607216.1_RNA NM_018937.2 NP_061760.1 Q9Y5E6 PCDB3_HUMAN 244 calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 72 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GAATTTGCACAGCCGCTCTAT 0.507000 29 87 0 0 1 0 0 ADAM7 8756 broad.mit.edu 37 8 24324554 24324554 + Nonstop_Mutation SNP G G C TCGA-P3-A6T7-01A-11D-A34J-08 TCGA-P3-A6T7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e651382-e28e-459c-9c96-796eb5bc714c f5db598d-2bc7-4b41-af84-47bf5309f13a g.chr8:24324554G>C ENST00000441335.2 + 6 811 c.632G>C c.(631-633)tGa>tCa p.*211S RP11-624C23.1_ENST00000523578.1_RNA|ADAM7_ENST00000175238.6_Intron|RP11-624C23.1_ENST00000519689.1_RNA|ADAM7_ENST00000380789.1_Intron Q9H2U9 ADAM7_HUMAN ADAM metallopeptidase domain 7 0 Peptidase M12B. proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15) 64 Prostate(55;0.0181) Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182) TTATTTTCTTGATGATGTCTA 0.313000 13 25 0 0 1 0 0 OR56A3 390083 broad.mit.edu 37 11 5968905 5968905 + Missense_Mutation SNP G G T TCGA-P3-A6T7-01A-11D-A34J-08 TCGA-P3-A6T7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e651382-e28e-459c-9c96-796eb5bc714c f5db598d-2bc7-4b41-af84-47bf5309f13a g.chr11:5968905G>T ENST00000329564.6 + 1 336 c.329G>T c.(328-330)tGt>tTt p.C110F NM_001003443.2 NP_001003443.2 Q8NH54 O56A3_HUMAN olfactory receptor, family 56, subfamily A, member 3 110 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(27)|stomach(1)|upper_aerodigestive_tract(1) 41 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) ATCATGAATTGTTTCCTAGCC 0.498000 56 160 3.28156e-27 3.59673e-27 1 1 0 ZNF516 9658 broad.mit.edu 37 18 74154328 74154328 + Missense_Mutation SNP C C T TCGA-P3-A6T7-01A-11D-A34J-08 TCGA-P3-A6T7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e651382-e28e-459c-9c96-796eb5bc714c f5db598d-2bc7-4b41-af84-47bf5309f13a g.chr18:74154328C>T ENST00000443185.2 - 3 1000 c.683G>A c.(682-684)gGg>gAg p.G228E ZNF516_ENST00000524431.2_5'UTR NM_014643.3 NP_055458.1 Q92618 ZN516_HUMAN zinc finger protein 516 228 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 32 Prostate(75;0.0869)|Esophageal squamous(42;0.129) OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238) GCTGCCGGGCCCCTGCGCGGT 0.697000 5 11 0 0 1 0 0 TTC9B 148014 broad.mit.edu 37 19 40723998 40723998 + Silent SNP C C T TCGA-P3-A6T7-01A-11D-A34J-08 TCGA-P3-A6T7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e651382-e28e-459c-9c96-796eb5bc714c f5db598d-2bc7-4b41-af84-47bf5309f13a g.chr19:40723998C>T ENST00000311308.6 - 1 308 c.291G>A c.(289-291)gcG>gcA p.A97A NM_152479.5 NP_689692.2 Q8N6N2 TTC9B_HUMAN tetratricopeptide repeat domain 9B 97 binding haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2) 5 ccccctgcgccgccTTCAGCT 0.756000 10 26 0 0 1 0 0 PRSS3P2 154754 broad.mit.edu 37 7 142481251 142481251 + RNA SNP A A C rs140137372 by1000genomes TCGA-P3-A6T7-01A-11D-A34J-08 TCGA-P3-A6T7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e651382-e28e-459c-9c96-796eb5bc714c f5db598d-2bc7-4b41-af84-47bf5309f13a g.chr7:142481251A>C ENST00000603901.1 + 0 325 NR_001296.3 CAATGACATCATGCTGATCAA 0.522000 3 39 0 0 1 0 0 PC 5091 broad.mit.edu 37 11 66617203 66617203 + Nonsense_Mutation SNP G G C TCGA-P3-A6T7-01A-11D-A34J-08 TCGA-P3-A6T7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e651382-e28e-459c-9c96-796eb5bc714c f5db598d-2bc7-4b41-af84-47bf5309f13a g.chr11:66617203G>C ENST00000393960.1 - 21 3307 c.3026C>G c.(3025-3027)tCa>tGa p.S1009* PC_ENST00000528224.1_5'UTR|PC_ENST00000393955.2_Nonsense_Mutation_p.S1009*|PC_ENST00000393958.2_Nonsense_Mutation_p.S1009*|PC_ENST00000529047.1_Nonsense_Mutation_p.S129* NM_001040716.1 NP_001035806.1 P11498 PYC_HUMAN pyruvate carboxylase 1009 gluconeogenesis|lipid biosynthetic process mitochondrial matrix ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Melanoma(852;0.0525) Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227) Biotin(DB00121)|Pyruvic acid(DB00119) CATAGCTGCTGAGAGCACATC 0.622000 4 62 0 0 1 0 0 SLC1A7 6512 broad.mit.edu 37 1 53569074 53569074 + Missense_Mutation SNP G G A TCGA-P3-A6T7-01A-11D-A34J-08 TCGA-P3-A6T7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e651382-e28e-459c-9c96-796eb5bc714c f5db598d-2bc7-4b41-af84-47bf5309f13a g.chr1:53569074G>A ENST00000371494.4 - 5 768 c.641C>T c.(640-642)cCg>cTg p.P214L NM_006671.4 NP_006662.3 O00341 EAA5_HUMAN solute carrier family 1 (glutamate transporter), member 7 214 integral to membrane|plasma membrane high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1) 26 Colorectal(1306;0.234) L-Glutamic Acid(DB00142) GCTGGTGCCCGGCTCTGACTT 0.637000 3 7 0 0 1 0 0 ZNF629 23361 broad.mit.edu 37 16 30794512 30794512 + Silent SNP G G A TCGA-P3-A6T7-01A-11D-A34J-08 TCGA-P3-A6T7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e651382-e28e-459c-9c96-796eb5bc714c f5db598d-2bc7-4b41-af84-47bf5309f13a g.chr16:30794512G>A ENST00000262525.4 - 3 1344 c.1137C>T c.(1135-1137)tgC>tgT p.C379C NM_001080417.1 NP_001073886.1 Q9UEG4 ZN629_HUMAN zinc finger protein 629 379 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(3)|urinary_tract(1) 22 Colorectal(24;0.198) AGGTCTTGCCGCACACTGGGC 0.657000 19 37 0 0 1 0 0 PCDHA8 56140 broad.mit.edu 37 5 140222296 140222296 + Missense_Mutation SNP G G A TCGA-P3-A6T7-01A-11D-A34J-08 TCGA-P3-A6T7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e651382-e28e-459c-9c96-796eb5bc714c f5db598d-2bc7-4b41-af84-47bf5309f13a g.chr5:140222296G>A ENST00000531613.1 + 1 1390 c.1390G>A c.(1390-1392)Gtg>Atg p.V464M PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA8_ENST00000378123.3_Missense_Mutation_p.V464M|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron NM_018911.2 NP_061734.1 p.V464M(4) NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6) 78 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CACGGTGTTCGTGAAGGAGAA 0.662000 28 89 0 0 1 0 0 KIF15 56992 broad.mit.edu 37 3 44844448 44844448 + Missense_Mutation SNP T T G TCGA-P3-A6T7-01A-11D-A34J-08 TCGA-P3-A6T7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e651382-e28e-459c-9c96-796eb5bc714c f5db598d-2bc7-4b41-af84-47bf5309f13a g.chr3:44844448T>G ENST00000326047.4 + 14 1801 c.1652T>G c.(1651-1653)tTc>tGc p.F551C KIF15_ENST00000425755.1_Missense_Mutation_p.F186C NM_020242.2 NP_064627.1 Q9NS87 KIF15_HUMAN kinesin family member 15 551 blood coagulation|cell proliferation|microtubule-based movement|mitosis centrosome|cytosol|microtubule|plus-end kinesin complex|spindle ATP binding|DNA binding|microtubule motor activity breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(5) 36 BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707) GAAAAAGCTTTCTCTGAAATA 0.388000 30 41 0 0 1 0 0 FOLH1 2346 broad.mit.edu 37 11 49207259 49207259 + Missense_Mutation SNP C C A TCGA-P3-A6T7-01A-11D-A34J-08 TCGA-P3-A6T7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e651382-e28e-459c-9c96-796eb5bc714c f5db598d-2bc7-4b41-af84-47bf5309f13a g.chr11:49207259C>A ENST00000340334.7 - 7 1111 c.743G>T c.(742-744)gGt>gTt p.G248V FOLH1_ENST00000256999.2_Missense_Mutation_p.G263V|FOLH1_ENST00000343844.4_Intron|FOLH1_ENST00000533034.1_Missense_Mutation_p.G248V|FOLH1_ENST00000356696.3_Missense_Mutation_p.G263V NM_001193471.1|NM_001193472.1 NP_001180400.1|NP_001180401.1 Q04609 FOLH1_HUMAN folate hydrolase (prostate-specific membrane antigen) 1 263 proteolysis cytoplasm|integral to plasma membrane|membrane fraction|nucleus carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 60 Capromab(DB00089)|L-Glutamic Acid(DB00142) GTCTCCTGCACCATTCAGATT 0.443000 16 39 1.67942e-08 1.74228e-08 1 1 0 VPS13B 157680 broad.mit.edu 37 8 100182343 100182343 + Missense_Mutation SNP C C G TCGA-P3-A6T7-01A-11D-A34J-08 TCGA-P3-A6T7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e651382-e28e-459c-9c96-796eb5bc714c f5db598d-2bc7-4b41-af84-47bf5309f13a g.chr8:100182343C>G ENST00000395996.1 + 16 2396 c.2285C>G c.(2284-2286)tCt>tGt p.S762C VPS13B_ENST00000355155.1_Missense_Mutation_p.S762C|VPS13B_ENST00000521932.1_3'UTR|VPS13B_ENST00000358544.2_Missense_Mutation_p.S762C|VPS13B_ENST00000357162.2_Missense_Mutation_p.S762C Q7Z7G8 VP13B_HUMAN vacuolar protein sorting 13 homolog B (yeast) 762 protein transport NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9) 193 Breast(36;3.73e-07) OV - Ovarian serous cystadenocarcinoma(57;0.00636) GTTATTCCCTCTTTCAGCACT 0.378000 51 100 0 0 1 0 0 TTBK1 84630 broad.mit.edu 37 6 43230606 43230606 + Missense_Mutation SNP G G A TCGA-P3-A6T7-01A-11D-A34J-08 TCGA-P3-A6T7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e651382-e28e-459c-9c96-796eb5bc714c f5db598d-2bc7-4b41-af84-47bf5309f13a g.chr6:43230606G>A ENST00000259750.4 + 13 1587 c.1504G>A c.(1504-1506)Ggc>Agc p.G502S TTBK1_ENST00000304139.5_Missense_Mutation_p.G451S NM_032538.1 NP_115927.1 Q5TCY1 TTBK1_HUMAN tau tubulin kinase 1 502 cell junction|cytoplasm|nucleus ATP binding|protein binding|protein serine/threonine kinase activity breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 53 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399) AGTGGACACAGGCCACGCTGA 0.677000 7 16 0 0 1 0 0 FLG 2312 broad.mit.edu 37 1 152275382 152275382 + Missense_Mutation SNP A A T TCGA-P3-A6T7-01A-11D-A34J-08 TCGA-P3-A6T7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e651382-e28e-459c-9c96-796eb5bc714c f5db598d-2bc7-4b41-af84-47bf5309f13a g.chr1:152275382A>T ENST00000368799.1 - 3 12015 c.11980T>A c.(11980-11982)Tct>Act p.S3994T FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 3994 keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CCGTGCTGAGAGTGTCTAAAC 0.413000 Ichthyosis 4 180 0 0 1 0 0 STXBP5L 9515 broad.mit.edu 37 3 120976119 120976119 + Missense_Mutation SNP T T A TCGA-P3-A6T7-01A-11D-A34J-08 TCGA-P3-A6T7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e651382-e28e-459c-9c96-796eb5bc714c f5db598d-2bc7-4b41-af84-47bf5309f13a g.chr3:120976119T>A ENST00000273666.6 + 17 2042 c.1771T>A c.(1771-1773)Tct>Act p.S591T STXBP5L_ENST00000492541.1_Missense_Mutation_p.S591T|STXBP5L_ENST00000472879.1_Missense_Mutation_p.S591T|STXBP5L_ENST00000471454.1_Missense_Mutation_p.S591T|STXBP5L_ENST00000497029.1_Missense_Mutation_p.S591T NM_014980.2 NP_055795.1 Q9Y2K9 STB5L_HUMAN syntaxin binding protein 5-like 591 exocytosis|protein transport cytoplasm|integral to membrane|plasma membrane NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 68 GBM - Glioblastoma multiforme(114;0.0694) AAGGAGTCTTTCTGGGAGCAC 0.403000 28 184 0 0 1 0 0 OR2T2 401992 broad.mit.edu 37 1 248616203 248616203 + Silent SNP C C A TCGA-P3-A6T7-01A-11D-A34J-08 TCGA-P3-A6T7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e651382-e28e-459c-9c96-796eb5bc714c f5db598d-2bc7-4b41-af84-47bf5309f13a g.chr1:248616203C>A ENST00000342927.3 + 1 127 c.105C>A c.(103-105)atC>atA p.I35I NM_001004136.1 NP_001004136.1 Q6IF00 OR2T2_HUMAN olfactory receptor, family 2, subfamily T, member 2 35 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.I35M(1)|p.I35I(1) cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1) 37 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) TCTTCTCCATCTTTGTGGTGG 0.532000 26 197 3.01185e-09 3.15837e-09 1 1 0 MYBPC2 4606 broad.mit.edu 37 19 50967652 50967652 + Missense_Mutation SNP A A G TCGA-P3-A6T7-01A-11D-A34J-08 TCGA-P3-A6T7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e651382-e28e-459c-9c96-796eb5bc714c f5db598d-2bc7-4b41-af84-47bf5309f13a g.chr19:50967652A>G ENST00000357701.5 + 27 3329 c.3278A>G c.(3277-3279)aAg>aGg p.K1093R NM_004533.3 NP_004524.3 Q14324 MYPC2_HUMAN myosin binding protein C, fast type 1093 Ig-like C2-type 7. cell adhesion|muscle filament sliding cytosol|myosin filament actin binding|structural constituent of muscle breast(1) 1 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144) GAAGATCCCAAGTTCCTGATA 0.557000 9 28 0 0 1 0 0 SPHKAP 80309 broad.mit.edu 37 2 228886587 228886587 + Silent SNP C C T TCGA-P3-A6T7-01A-11D-A34J-08 TCGA-P3-A6T7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e651382-e28e-459c-9c96-796eb5bc714c f5db598d-2bc7-4b41-af84-47bf5309f13a g.chr2:228886587C>T ENST00000392056.3 - 6 583 c.537G>A c.(535-537)ctG>ctA p.L179L SPHKAP_ENST00000344657.5_Silent_p.L179L NM_001142644.1 NP_001136116.1 Q2M3C7 SPKAP_HUMAN SPHK1 interactor, AKAP domain containing 179 cytoplasm protein binding NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 185 Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23) Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232) CCAGACCAATCAGAAATTTGT 0.458000 68 53 0 0 1 0 0 C11orf49 79096 broad.mit.edu 37 11 47185796 47185796 + Missense_Mutation SNP G G A TCGA-P3-A6T7-01A-11D-A34J-08 TCGA-P3-A6T7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e651382-e28e-459c-9c96-796eb5bc714c f5db598d-2bc7-4b41-af84-47bf5309f13a g.chr11:47185796G>A ENST00000378618.2 + 9 1026 c.974G>A c.(973-975)aGa>aAa p.R325K NM_001003678.1 NP_001003678.1 Q9H6J7 CK049_HUMAN chromosome 11 open reading frame 49 0 central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(1) 11 TGGGAGCCCAGAGAGTGAGGC 0.622000 5 24 0 0 1 0 0 PPP6C 5537 broad.mit.edu 37 9 127915979 127915979 + Missense_Mutation SNP G G C TCGA-P3-A6T7-01A-11D-A34J-08 TCGA-P3-A6T7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e651382-e28e-459c-9c96-796eb5bc714c f5db598d-2bc7-4b41-af84-47bf5309f13a g.chr9:127915979G>C ENST00000451402.1 - 7 833 c.613C>G c.(613-615)Cct>Gct p.P205A PPP6C_ENST00000373547.4_Missense_Mutation_p.P168A|PPP6C_ENST00000415905.1_Missense_Mutation_p.P146A|PPP6C_ENST00000373546.3_Missense_Mutation_p.P21A NM_001123355.1 NP_001116827.1 O00743 PPP6_HUMAN protein phosphatase 6, catalytic subunit 168 G1/S transition of mitotic cell cycle|protein dephosphorylation cytosol metal ion binding|protein binding|protein serine/threonine phosphatase activity NS(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(2)|ovary(1)|skin(3) 14 TTGATATCAGGAGATAAACCA 0.373000 26 63 0 0 1 0 0 USP37 57695 broad.mit.edu 37 2 219324528 219324528 + Silent SNP C C G rs148183468 TCGA-P3-A6T7-01A-11D-A34J-08 TCGA-P3-A6T7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e651382-e28e-459c-9c96-796eb5bc714c f5db598d-2bc7-4b41-af84-47bf5309f13a g.chr2:219324528C>G ENST00000258399.3 - 23 3040 c.2628G>C c.(2626-2628)ctG>ctC p.L876L USP37_ENST00000418019.1_Silent_p.L876L|USP37_ENST00000454775.1_Silent_p.L876L|USP37_ENST00000415516.1_Silent_p.L782L NM_020935.2 NP_065986.2 Q86T82 UBP37_HUMAN ubiquitin specific peptidase 37 876 ubiquitin-dependent protein catabolic process nucleus cysteine-type peptidase activity|ubiquitin thiolesterase activity NS(2)|breast(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(5)|stomach(1) 35 Renal(207;0.0915) Epithelial(149;1.08e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.00375)|Lung(261;0.00487) CATTTCTTTTCAGTTCCTCAG 0.413000 40 60 0 0 1 0 0 KIAA1432 57589 broad.mit.edu 37 9 5765455 5765455 + Silent SNP T T A TCGA-P3-A6T7-01A-11D-A34J-08 TCGA-P3-A6T7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e651382-e28e-459c-9c96-796eb5bc714c f5db598d-2bc7-4b41-af84-47bf5309f13a g.chr9:5765455T>A ENST00000414202.2 + 20 3074 c.2883T>A c.(2881-2883)ctT>ctA p.L961L KIAA1432_ENST00000251879.6_Silent_p.L961L|KIAA1432_ENST00000381532.2_Silent_p.L882L|KIAA1432_ENST00000418622.3_Silent_p.L882L|KIAA1432_ENST00000449720.2_Silent_p.L845L NM_001206557.1|NM_020829.3 NP_001193486.1|NP_065880.2 Q4ADV7 RIC1_HUMAN KIAA1432 961 integral to membrane breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1) 45 Acute lymphoblastic leukemia(23;0.154) GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122) ATGCTACCCTTCTATTCAACA 0.418000 39 247 0 0 1 0 0 THAP4 51078 broad.mit.edu 37 2 242572703 242572703 + Missense_Mutation SNP G G A TCGA-P3-A6T7-01A-11D-A34J-08 TCGA-P3-A6T7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e651382-e28e-459c-9c96-796eb5bc714c f5db598d-2bc7-4b41-af84-47bf5309f13a g.chr2:242572703G>A ENST00000407315.1 - 2 1300 c.869C>T c.(868-870)aCc>aTc p.T290I NM_015963.5 NP_057047.4 Q8WY91 THAP4_HUMAN THAP domain containing 4 290 DNA binding|metal ion binding kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1) 9 all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2) Epithelial(32;2.3e-33)|all cancers(36;8.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.68e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0844) CGGTGTCGCGGTAAGTGATGA 0.657000 4 119 0 0 1 0 0 RNF20 56254 broad.mit.edu 37 9 104314951 104314951 + Missense_Mutation SNP C C G TCGA-P3-A6T7-01A-11D-A34J-08 TCGA-P3-A6T7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e651382-e28e-459c-9c96-796eb5bc714c f5db598d-2bc7-4b41-af84-47bf5309f13a g.chr9:104314951C>G ENST00000389120.3 + 13 1907 c.1817C>G c.(1816-1818)tCt>tGt p.S606C NM_019592.5 NP_062538.5 Q5VTR2 BRE1A_HUMAN ring finger protein 20, E3 ubiquitin protein ligase 606 histone H2B ubiquitination|histone monoubiquitination|negative regulation of cell migration|positive regulation of transcription, DNA-dependent|protein polyubiquitination|ubiquitin-dependent protein catabolic process nucleolus|ubiquitin ligase complex histone binding|p53 binding|transcription coactivator activity|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding breast(3)|endometrium(3)|kidney(6)|large_intestine(7)|lung(23)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 54 all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255) OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311) GAGAGAGATTCTGCTAAGGAT 0.408000 16 70 0 0 1 0 0 OGFOD1 55239 broad.mit.edu 37 16 56501083 56501083 + Missense_Mutation SNP G G A TCGA-P3-A6T7-01A-11D-A34J-08 TCGA-P3-A6T7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e651382-e28e-459c-9c96-796eb5bc714c f5db598d-2bc7-4b41-af84-47bf5309f13a g.chr16:56501083G>A ENST00000566157.1 + 7 787 c.664G>A c.(664-666)Gaa>Aaa p.E222K OGFOD1_ENST00000568397.1_Intron NM_018233.3 NP_060703.3 Q8N543 OGFD1_HUMAN 2-oxoglutarate and iron-dependent oxygenase domain containing 1 222 Fe2OG dioxygenase. iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1) 8 Vitamin C(DB00126) TCAGGTGTCTGAAGTGCTGTC 0.473000 35 153 0 0 1 0 0 SLC51A 200931 broad.mit.edu 37 3 195953918 195953918 + Silent SNP C C T TCGA-P3-A6T7-01A-11D-A34J-08 TCGA-P3-A6T7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e651382-e28e-459c-9c96-796eb5bc714c f5db598d-2bc7-4b41-af84-47bf5309f13a g.chr3:195953918C>T ENST00000296327.5 + 3 425 c.216C>T c.(214-216)gcC>gcT p.A72A NM_152672.5 NP_689885.4 solute carrier family 51, alpha subunit TGGAGGATGCCGTCTACCTGT 0.632000 17 89 0 0 1 0 0 KIAA1407 57577 broad.mit.edu 37 3 113721347 113721347 + Missense_Mutation SNP G G A TCGA-P3-A6T7-01A-11D-A34J-08 TCGA-P3-A6T7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e651382-e28e-459c-9c96-796eb5bc714c f5db598d-2bc7-4b41-af84-47bf5309f13a g.chr3:113721347G>A ENST00000295878.3 - 12 2163 c.2017C>T c.(2017-2019)Cgg>Tgg p.R673W KIAA1407_ENST00000545063.1_3'UTR NM_020817.1 NP_065868.1 Q8NCU4 K1407_HUMAN KIAA1407 673 endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1) 40 GCCAAGATCCGCCTACATTCA 0.328000 15 74 0 0 1 0 0 SPATA19 219938 broad.mit.edu 37 11 133714533 133714533 + Silent SNP T T A TCGA-P3-A6T7-01A-11D-A34J-08 TCGA-P3-A6T7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e651382-e28e-459c-9c96-796eb5bc714c f5db598d-2bc7-4b41-af84-47bf5309f13a g.chr11:133714533T>A ENST00000299140.3 - 3 192 c.138A>T c.(136-138)acA>acT p.T46T SPATA19_ENST00000532889.1_Silent_p.T46T NM_174927.1 NP_777587.1 Q7Z5L4 SPT19_HUMAN spermatogenesis associated 19 46 cell differentiation|multicellular organismal development|spermatogenesis mitochondrial outer membrane cervix(1)|endometrium(2)|large_intestine(2)|lung(5)|prostate(1) 11 all_hematologic(175;0.127) all_cancers(12;5.59e-17)|all_epithelial(12;2.65e-12)|all_lung(97;0.00045)|Lung NSC(97;0.000861)|Breast(109;0.000873)|Medulloblastoma(222;0.0425)|Esophageal squamous(93;0.0844)|all_neural(223;0.117) Epithelial(10;4.36e-10)|all cancers(11;7.1e-09)|BRCA - Breast invasive adenocarcinoma(10;8.45e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00286)|Lung(977;0.207) CCTCTTCTTCTGTCTGAAAGG 0.488000 20 46 0 0 1 0 0 GIMAP1 170575 broad.mit.edu 37 7 150417607 150417607 + Missense_Mutation SNP G G A rs142041443 TCGA-P3-A6T7-01A-11D-A34J-08 TCGA-P3-A6T7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e651382-e28e-459c-9c96-796eb5bc714c f5db598d-2bc7-4b41-af84-47bf5309f13a g.chr7:150417607G>A ENST00000307194.5 + 3 655 c.515G>A c.(514-516)cGg>cAg p.R172Q NM_130759.3 NP_570115.1 GTPase, IMAP family member 1 NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 28 OV - Ovarian serous cystadenocarcinoma(82;0.0145) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) ACAGAGAACCGGGCCTTGCGC 0.652000 22 55 0 0 1 0 0 CNNM1 26507 broad.mit.edu 37 10 101124216 101124216 + Missense_Mutation SNP G G A TCGA-P3-A6T7-01A-11D-A34J-08 TCGA-P3-A6T7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e651382-e28e-459c-9c96-796eb5bc714c f5db598d-2bc7-4b41-af84-47bf5309f13a g.chr10:101124216G>A ENST00000356713.4 + 5 2360 c.2071G>A c.(2071-2073)Gaa>Aaa p.E691K CNNM1_ENST00000370534.4_Missense_Mutation_p.E326K|CNNM1_ENST00000370528.3_Missense_Mutation_p.E620K|CNNM1_ENST00000446890.1_Missense_Mutation_p.E620K NM_020348.2 NP_065081.2 Q9NRU3 CNNM1_HUMAN cyclin M1 691 ion transport integral to membrane|plasma membrane NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(5)|ovary(1)|prostate(1)|skin(1) 25 Colorectal(252;0.234) Epithelial(162;6.82e-10)|all cancers(201;5.62e-08) CCTTCGCTTTGAAAATGGAGC 0.418000 6 16 0 0 1 0 0 EPHA3 2042 broad.mit.edu 37 3 89391076 89391076 + Missense_Mutation SNP G G A TCGA-P3-A6T7-01A-11D-A34J-08 TCGA-P3-A6T7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e651382-e28e-459c-9c96-796eb5bc714c f5db598d-2bc7-4b41-af84-47bf5309f13a g.chr3:89391076G>A ENST00000336596.2 + 5 1367 c.1142G>A c.(1141-1143)cGc>cAc p.R381H EPHA3_ENST00000494014.1_Missense_Mutation_p.R381H|EPHA3_ENST00000452448.2_Missense_Mutation_p.R381H NM_005233.5 NP_005224.2 P29320 EPHA3_HUMAN EPH receptor A3 381 Fibronectin type-III 1. extracellular region|integral to plasma membrane ATP binding p.R381H(1) NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5) 139 all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612) Lung NSC(201;0.0782) LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942) CCAAATGTCCGCTTCCTCCCT 0.483000 TSP Lung(6;0.00050) 54 83 0 0 1 0 0 CACNA1A 773 broad.mit.edu 37 19 13446718 13446718 + Silent SNP G G A TCGA-P3-A6T7-01A-11D-A34J-08 TCGA-P3-A6T7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e651382-e28e-459c-9c96-796eb5bc714c f5db598d-2bc7-4b41-af84-47bf5309f13a g.chr19:13446718G>A ENST00000360228.5 - 7 983 c.984C>T c.(982-984)aaC>aaT p.N328N CACNA1A_ENST00000573710.2_Silent_p.N328N NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2 NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2 O00555 CAC1A_HUMAN calcium channel, voltage-dependent, P/Q type, alpha 1A subunit 328 cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion cytoplasm|nucleus syntaxin binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1) 42 OV - Ovarian serous cystadenocarcinoma(19;5.07e-21) Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230) CTGAGGCATCGTTGCTCTGTA 0.532000 3 13 0 0 1 0 0 FOXRED2 80020 broad.mit.edu 37 22 36900703 36900703 + Missense_Mutation SNP C C A TCGA-P3-A6T7-01A-11D-A34J-08 TCGA-P3-A6T7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e651382-e28e-459c-9c96-796eb5bc714c f5db598d-2bc7-4b41-af84-47bf5309f13a g.chr22:36900703C>A ENST00000397224.4 - 3 731 c.638G>T c.(637-639)gGc>gTc p.G213V FOXRED2_ENST00000216187.6_Missense_Mutation_p.G213V|FOXRED2_ENST00000397223.4_Missense_Mutation_p.G213V NM_001102371.1 NP_001095841.1 Q8IWF2 FXRD2_HUMAN FAD-dependent oxidoreductase domain containing 2 213 ER-associated protein catabolic process endoplasmic reticulum lumen flavin adenine dinucleotide binding|oxidoreductase activity|protein binding breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 22 CACATTCTGGCCTACAAAGTC 0.547000 5 35 1 1 1 1 0 ZNF568 374900 broad.mit.edu 37 19 37440671 37440671 + Nonsense_Mutation SNP G G T TCGA-P3-A6T7-01A-11D-A34J-08 TCGA-P3-A6T7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e651382-e28e-459c-9c96-796eb5bc714c f5db598d-2bc7-4b41-af84-47bf5309f13a g.chr19:37440671G>T ENST00000415168.1 + 5 800 c.424G>T c.(424-426)Gag>Tag p.E142* ZNF568_ENST00000427117.1_Intron|ZNF568_ENST00000333987.7_Nonsense_Mutation_p.E206*|ZNF568_ENST00000455427.2_Intron NM_001204837.1 NP_001191766.1 Q3ZCX4 ZN568_HUMAN zinc finger protein 568 206 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(9)|ovary(1) 29 Esophageal squamous(110;0.183) COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) ACAGAGTAATGAGTTTGGGAA 0.368000 42 115 6.5261e-18 7.07298e-18 1 1 0 KRTAP4-11 653240 broad.mit.edu 37 17 39274087 39274087 + Missense_Mutation SNP G G C rs141357429 by1000genomes TCGA-P3-A6T7-01A-11D-A34J-08 TCGA-P3-A6T7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e651382-e28e-459c-9c96-796eb5bc714c f5db598d-2bc7-4b41-af84-47bf5309f13a g.chr17:39274087G>C ENST00000391413.2 - 1 519 c.481C>G c.(481-483)Ctg>Gtg p.L161V NM_033059.3 NP_149048.2 Q9BYQ6 KR411_HUMAN keratin associated protein 4-11 161 27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC]. keratin filament p.L161V(1) endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1) 33 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000371) ACTGGACGCAGGcagcagcag 0.657000 7 24 0 0 1 0 0 PCDHB12 56124 broad.mit.edu 37 5 140590690 140590690 + Silent SNP G G A TCGA-P3-A6T7-01A-11D-A34J-08 TCGA-P3-A6T7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e651382-e28e-459c-9c96-796eb5bc714c f5db598d-2bc7-4b41-af84-47bf5309f13a g.chr5:140590690G>A ENST00000239450.2 + 1 2400 c.2211G>A c.(2209-2211)gtG>gtA p.V737V PCDHB12_ENST00000541609.1_Silent_p.V400V NM_018932.3 NP_061755.1 Q9Y5F1 PCDBC_HUMAN 737 homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1) 83 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GACATCTGGTGGACGTGAGTG 0.607000 36 144 0 0 1 0 0 OR10A3 26496 broad.mit.edu 37 11 7960925 7960925 + Missense_Mutation SNP A A C TCGA-P3-A6T7-01A-11D-A34J-08 TCGA-P3-A6T7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e651382-e28e-459c-9c96-796eb5bc714c f5db598d-2bc7-4b41-af84-47bf5309f13a g.chr11:7960925A>C ENST00000360759.3 - 1 216 c.143T>G c.(142-144)aTc>aGc p.I48S NM_001003745.1 NP_001003745.1 P58181 O10A3_HUMAN olfactory receptor, family 10, subfamily A, member 3 48 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2) 21 Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189) TAAGGAGATGATGACTGTAAT 0.478000 27 110 0 0 1 0 0 PIGZ 80235 broad.mit.edu 37 3 196678695 196678695 + Missense_Mutation SNP C C T TCGA-P3-A6T7-01A-11D-A34J-08 TCGA-P3-A6T7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e651382-e28e-459c-9c96-796eb5bc714c f5db598d-2bc7-4b41-af84-47bf5309f13a g.chr3:196678695C>T ENST00000412723.1 - 2 354 c.208G>A c.(208-210)Gca>Aca p.A70T PIGZ_ENST00000443835.1_Missense_Mutation_p.A70T NM_025163.2 NP_079439.2 Q86VD9 PIGZ_HUMAN phosphatidylinositol glycan anchor biosynthesis, class Z 70 GPI anchor biosynthetic process integral to membrane|intrinsic to endoplasmic reticulum membrane alpha-1,2-mannosyltransferase activity breast(1)|endometrium(1)|lung(7)|ovary(3)|prostate(1)|urinary_tract(1) 14 all_cancers(143;1.05e-08)|Ovarian(172;0.0634)|Breast(254;0.0838) Epithelial(36;4.29e-24)|all cancers(36;2.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00603) GTTTTACCTGCCATCACCTCA 0.577000 18 23 0 0 1 0 0 TDRD6 221400 broad.mit.edu 37 6 46658913 46658913 + Silent SNP A A G TCGA-P3-A6T7-01A-11D-A34J-08 TCGA-P3-A6T7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e651382-e28e-459c-9c96-796eb5bc714c f5db598d-2bc7-4b41-af84-47bf5309f13a g.chr6:46658913A>G ENST00000544460.1 + 1 3302 c.3048A>G c.(3046-3048)tcA>tcG p.S1016S TDRD6_ENST00000316081.6_Silent_p.S1016S NM_001168359.1 NP_001161831.1 O60522 TDRD6_HUMAN tudor domain containing 6 1016 cell differentiation|multicellular organismal development|spermatogenesis chromatoid body nucleic acid binding NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 Lung(136;0.192) AACAGTTGTCATGTAGTATTA 0.348000 29 93 0 0 1 0 0 MLYCD 23417 broad.mit.edu 37 16 83945885 83945885 + Silent SNP C C T TCGA-P3-A6T7-01A-11D-A34J-08 TCGA-P3-A6T7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e651382-e28e-459c-9c96-796eb5bc714c f5db598d-2bc7-4b41-af84-47bf5309f13a g.chr16:83945885C>T ENST00000262430.4 + 4 880 c.861C>T c.(859-861)atC>atT p.I287I RP11-505K9.4_ENST00000561562.1_RNA NM_012213.2 NP_036345.2 O95822 DCMC_HUMAN malonyl-CoA decarboxylase 287 acyl-CoA metabolic process|fatty acid biosynthetic process mitochondrion|peroxisome malonyl-CoA decarboxylase activity|methylmalonyl-CoA decarboxylase activity NS(1)|biliary_tract(1)|breast(1)|kidney(2)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1) 12 CTGCTGCGATCTTTTATTCCA 0.507000 16 54 0 0 1 0 0 ZNF664 144348 broad.mit.edu 37 12 124497326 124497326 + Missense_Mutation SNP C C T TCGA-P3-A6T7-01A-11D-A34J-08 TCGA-P3-A6T7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e651382-e28e-459c-9c96-796eb5bc714c f5db598d-2bc7-4b41-af84-47bf5309f13a g.chr12:124497326C>T ENST00000539644.1 + 6 2465 c.635C>T c.(634-636)tCg>tTg p.S212L ZNF664_ENST00000392404.3_Missense_Mutation_p.S212L|ZNF664_ENST00000337815.4_Missense_Mutation_p.S212L|ZNF664_ENST00000538932.2_Missense_Mutation_p.S212L|RP11-522N14.1_ENST00000540762.1_RNA Q8N3J9 ZN664_HUMAN zinc finger protein 664 212 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|large_intestine(5)|lung(6)|skin(1) 13 all_neural(191;0.101)|Medulloblastoma(191;0.163) Epithelial(86;0.000239)|OV - Ovarian serous cystadenocarcinoma(86;0.000247)|all cancers(50;0.00155)|BRCA - Breast invasive adenocarcinoma(302;0.249) AGTCAGAGTTCGAGCCTGTGC 0.527000 32 99 0 0 1 0 0 NXF4 55999 broad.mit.edu 37 X 101805037 101805037 + RNA SNP G G C TCGA-P3-A6T7-01A-11D-A34J-08 TCGA-P3-A6T7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e651382-e28e-459c-9c96-796eb5bc714c f5db598d-2bc7-4b41-af84-47bf5309f13a g.chrX:101805037G>C ENST00000360035.2 + 0 145 NR_002216.1 endometrium(2)|lung(8) 10 GGAGGTTAAGGGGGATCCTGA 0.537000 42 41 0 0 1 0 0 PRAC1 84366 broad.mit.edu 37 17 46799746 46799746 + Silent SNP G G A TCGA-P3-A6T7-01A-11D-A34J-08 TCGA-P3-A6T7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e651382-e28e-459c-9c96-796eb5bc714c f5db598d-2bc7-4b41-af84-47bf5309f13a g.chr17:46799746G>A ENST00000290294.3 - 1 138 c.9C>T c.(7-9)tgC>tgT p.C3C NM_032391.2 NP_115767.1 Q96KF2 PRAC_HUMAN 3 nucleus kidney(1)|lung(2) 3 AGAAATGGGCGCACAACATCG 0.532000 4 86 0 0 1 0 0 NFE2L1 4779 broad.mit.edu 37 17 46136577 46136577 + Silent SNP C C T TCGA-P3-A6T7-01A-11D-A34J-08 TCGA-P3-A6T7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e651382-e28e-459c-9c96-796eb5bc714c f5db598d-2bc7-4b41-af84-47bf5309f13a g.chr17:46136577C>T ENST00000362042.3 + 6 2509 c.1893C>T c.(1891-1893)atC>atT p.I631I NFE2L1_ENST00000582155.1_Silent_p.I443I|NFE2L1_ENST00000583378.1_Silent_p.I432I|NFE2L1_ENST00000536222.1_Silent_p.I475I|NFE2L1_ENST00000361665.3_Silent_p.I620I|NFE2L1_ENST00000357480.5_Silent_p.I601I|NFE2L1_ENST00000585291.1_Silent_p.I601I NM_003204.2 NP_003195.1 Q14494 NF2L1_HUMAN nuclear factor, erythroid 2-like 1 631 anatomical structure morphogenesis|heme biosynthetic process|inflammatory response|transcription from RNA polymerase II promoter nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity cervix(1)|endometrium(3)|kidney(9)|large_intestine(7)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 ACAAAATCATCAACCTGCCTG 0.552000 23 46 0 0 1 0 0 TARDBP 23435 broad.mit.edu 37 1 11080535 11080535 + Missense_Mutation SNP G G A TCGA-P3-A6T7-01A-11D-A34J-08 TCGA-P3-A6T7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e651382-e28e-459c-9c96-796eb5bc714c f5db598d-2bc7-4b41-af84-47bf5309f13a g.chr1:11080535G>A ENST00000240185.3 + 5 707 c.593G>A c.(592-594)tGt>tAt p.C198Y TARDBP_ENST00000315091.3_Missense_Mutation_p.C198Y|TARDBP_ENST00000439080.2_Missense_Mutation_p.C82Y NM_007375.3 NP_031401.1 Q13148 TADBP_HUMAN TAR DNA binding protein 198 RRM 1.|RRM 2. 3'-UTR-mediated mRNA stabilization|cell death|mRNA processing|negative regulation by host of viral transcription|RNA splicing|transcription from RNA polymerase II promoter nucleus double-stranded DNA binding|mRNA 3'-UTR binding|nucleotide binding|protein binding|sequence-specific DNA binding transcription factor activity cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|ovary(2) 11 Ovarian(185;0.249) Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) STAD - Stomach adenocarcinoma(5;0.0578) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.37e-07)|COAD - Colon adenocarcinoma(227;7.38e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000299)|Kidney(185;0.000754)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487) GTGGGGCGCTGTACAGAGGAC 0.453000 29 104 0 0 1 0 0 BACE1 23621 broad.mit.edu 37 11 117186253 117186253 + Missense_Mutation SNP T T C TCGA-P3-A6T7-01A-11D-A34J-08 TCGA-P3-A6T7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e651382-e28e-459c-9c96-796eb5bc714c f5db598d-2bc7-4b41-af84-47bf5309f13a g.chr11:117186253T>C ENST00000313005.6 - 1 719 c.259A>G c.(259-261)Acg>Gcg p.T87A BACE1_ENST00000428381.2_Missense_Mutation_p.T87A|BACE1_ENST00000528053.1_Missense_Mutation_p.T87A|BACE1_ENST00000513780.1_Missense_Mutation_p.T87A|BACE1_ENST00000445823.2_Missense_Mutation_p.T87A|BACE1_ENST00000514464.1_5'UTR NM_012104.4|NM_138971.3|NM_138972.3|NM_138973.3 NP_036236.1|NP_620427.1|NP_620428.1|NP_620429.1 P56817 BACE1_HUMAN beta-site APP-cleaving enzyme 1 87 beta-amyloid metabolic process|membrane protein ectodomain proteolysis cell surface|cytoplasmic vesicle membrane|endoplasmic reticulum|endosome|integral to plasma membrane|trans-Golgi network aspartic-type endopeptidase activity|beta-aspartyl-peptidase activity|protein binding breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|prostate(1) 19 all_hematologic(175;0.0487) Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000563)|all cancers(92;0.0032) CACCTTACCGTCTGCGGGGGG 0.657000 6 17 0 0 1 0 0 PEX3 8504 broad.mit.edu 37 6 143793343 143793343 + Missense_Mutation SNP C C G TCGA-P3-A6T7-01A-11D-A34J-08 TCGA-P3-A6T7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e651382-e28e-459c-9c96-796eb5bc714c f5db598d-2bc7-4b41-af84-47bf5309f13a g.chr6:143793343C>G ENST00000367591.4 + 8 688 c.625C>G c.(625-627)Cta>Gta p.L209V NM_003630.2 NP_003621.1 P56589 PEX3_HUMAN peroxisomal biogenesis factor 3 209 protein import into peroxisome membrane|transmembrane transport integral to peroxisomal membrane protein binding endometrium(1)|large_intestine(9)|lung(4)|ovary(2)|skin(2) 18 OV - Ovarian serous cystadenocarcinoma(155;5.73e-06)|GBM - Glioblastoma multiforme(68;0.0117) GGAGCAAAAACTAAAAGAAAT 0.338000 24 82 0 0 1 0 0 MAGEC1 9947 broad.mit.edu 37 X 140994650 140994650 + Missense_Mutation SNP C C T TCGA-P3-A6T7-01A-11D-A34J-08 TCGA-P3-A6T7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e651382-e28e-459c-9c96-796eb5bc714c f5db598d-2bc7-4b41-af84-47bf5309f13a g.chrX:140994650C>T ENST00000285879.4 + 4 1746 c.1460C>T c.(1459-1461)tCc>tTc p.S487F MAGEC1_ENST00000406005.2_Intron NM_005462.4 NP_005453.2 O60732 MAGC1_HUMAN melanoma antigen family C, 1 487 protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1) 127 Acute lymphoblastic leukemia(192;6.56e-05) TCCTCCTCCTCCTCCTCCACT 0.478000 HNSCC(15;0.026) 26 91 0 0 1 0 0 MANEAL 149175 broad.mit.edu 37 1 38265656 38265656 + Missense_Mutation SNP G G C TCGA-P3-A6T7-01A-11D-A34J-08 TCGA-P3-A6T7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e651382-e28e-459c-9c96-796eb5bc714c f5db598d-2bc7-4b41-af84-47bf5309f13a g.chr1:38265656G>C ENST00000373045.6 + 4 1536 c.1155G>C c.(1153-1155)gaG>gaC p.E385D MANEAL_ENST00000397631.3_3'UTR|MANEAL_ENST00000329006.5_Missense_Mutation_p.E163D|MANEAL_ENST00000525897.1_Missense_Mutation_p.E191D|RP11-109P14.9_ENST00000433474.1_RNA NM_001113482.1 NP_001106954.1 Q5VSG8 MANEL_HUMAN mannosidase, endo-alpha-like 385 Golgi membrane|integral to membrane hydrolase activity endometrium(1)|large_intestine(1)|liver(1)|lung(1)|prostate(3) 7 Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197) Myeloproliferative disorder(586;0.0255) AGTACTATGAGACGGCCCTGC 0.567000 24 64 0 0 1 0 0 HLA-DQB2 3120 broad.mit.edu 37 6 32725596 32725596 + Silent SNP C C G rs115565146 by1000genomes TCGA-P3-A6T7-01A-11D-A34J-08 TCGA-P3-A6T7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e651382-e28e-459c-9c96-796eb5bc714c f5db598d-2bc7-4b41-af84-47bf5309f13a g.chr6:32725596C>G ENST00000435145.2 - 4 772 c.711G>C c.(709-711)ctG>ctC p.L237L HLA-DQB2_ENST00000437316.2_Silent_p.L237L|HLA-DQB2_ENST00000411527.1_Intron Q5SR06 Q5SR06_HUMAN major histocompatibility complex, class II, DQ beta 2 216 antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|immune response integral to membrane|MHC class II protein complex endometrium(1)|kidney(1)|lung(1)|prostate(2) 5 CGAGGAAGATCAGCCCCAGCA 0.562000 5 26 0 0 1 0 0 IGHV1-18 28468 broad.mit.edu 37 14 106641758 106641758 + RNA SNP A A C TCGA-P3-A6T7-01A-11D-A34J-08 TCGA-P3-A6T7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e651382-e28e-459c-9c96-796eb5bc714c f5db598d-2bc7-4b41-af84-47bf5309f13a g.chr14:106641758A>C ENST00000390605.2 - 0 214 CCCAGCTGATACCATAGCTGG 0.557000 139 202 0 0 1 0 0 NYNRIN 57523 broad.mit.edu 37 14 24882283 24882283 + Missense_Mutation SNP A A T TCGA-P3-A6T7-01A-11D-A34J-08 TCGA-P3-A6T7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e651382-e28e-459c-9c96-796eb5bc714c f5db598d-2bc7-4b41-af84-47bf5309f13a g.chr14:24882283A>T ENST00000382554.3 + 7 3041 c.2723A>T c.(2722-2724)aAg>aTg p.K908M NYNRIN_ENST00000554505.1_3'UTR NM_025081.2 NP_079357.2 Q9P2P1 NYNRI_HUMAN NYN domain and retroviral integrase containing 908 DNA integration integral to membrane DNA binding breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 56 AATAGTTCCAAGAAACTGATG 0.522000 6 7 0 0 1 0 0 CDH23 64072 broad.mit.edu 37 10 73406419 73406419 + Silent SNP G G A TCGA-P3-A6T7-01A-11D-A34J-08 TCGA-P3-A6T7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e651382-e28e-459c-9c96-796eb5bc714c f5db598d-2bc7-4b41-af84-47bf5309f13a g.chr10:73406419G>A ENST00000398809.4 + 14 1884 c.1494G>A c.(1492-1494)ccG>ccA p.P498P CDH23_ENST00000398842.3_Silent_p.P498P|CDH23_ENST00000461841.3_Silent_p.P543P|CDH23_ENST00000299366.7_Intron|CDH23_ENST00000224721.6_Intron NM_052836.3 NP_443068.1 Q9H251 CAD23_HUMAN cadherin-related 23 0 Cadherin 5. calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound cytosol|integral to membrane|plasma membrane|stereocilium calcium ion binding|protein binding NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3) 133 CTCCAGGGCCGACTGTGGTGA 0.572000 41 103 0 0 1 0 0 USP12 219333 broad.mit.edu 37 13 27669743 27669743 + Missense_Mutation SNP C C T TCGA-P3-A6T7-01A-11D-A34J-08 TCGA-P3-A6T7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e651382-e28e-459c-9c96-796eb5bc714c f5db598d-2bc7-4b41-af84-47bf5309f13a g.chr13:27669743C>T ENST00000282344.6 - 4 824 c.568G>A c.(568-570)Gaa>Aaa p.E190K NM_182488.3 NP_872294.2 O75317 UBP12_HUMAN ubiquitin specific peptidase 12 190 protein deubiquitination|ubiquitin-dependent protein catabolic process cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 Lung SC(185;0.0161) all cancers(112;0.0508)|GBM - Glioblastoma multiforme(144;0.168)|Epithelial(112;0.244)|OV - Ovarian serous cystadenocarcinoma(117;0.246) CTTACAGTTTCACAAGTAAGA 0.308000 7 58 0 0 1 0 0 RNF7 9616 broad.mit.edu 37 3 141457317 141457317 + Missense_Mutation SNP T T A TCGA-P3-A6T7-01A-11D-A34J-08 TCGA-P3-A6T7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e651382-e28e-459c-9c96-796eb5bc714c f5db598d-2bc7-4b41-af84-47bf5309f13a g.chr3:141457317T>A ENST00000273480.3 + 1 272 c.134T>A c.(133-135)gTg>gAg p.V45E RNF7_ENST00000393000.3_Missense_Mutation_p.V45E|RNF7_ENST00000480908.1_Missense_Mutation_p.V45E NM_014245.4|NM_183237.2 NP_055060.1|NP_899060.1 Q9UBF6 RBX2_HUMAN ring finger protein 7 45 anti-apoptosis|induction of apoptosis by oxidative stress|protein neddylation|response to redox state cytoplasm|nucleus copper ion binding|NEDD8 ligase activity|protein binding|zinc ion binding kidney(1)|lung(3)|upper_aerodigestive_tract(1) 5 AGCTGGGACGTGGAGTGCGAT 0.672000 OREG0015854 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 29 0 0 1 0 0 SPTAN1 6709 broad.mit.edu 37 9 131394416 131394416 + Missense_Mutation SNP A A T TCGA-P3-A6T7-01A-11D-A34J-08 TCGA-P3-A6T7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e651382-e28e-459c-9c96-796eb5bc714c f5db598d-2bc7-4b41-af84-47bf5309f13a g.chr9:131394416A>T ENST00000358161.5 + 52 6886 c.6773A>T c.(6772-6774)cAg>cTg p.Q2258L SPTAN1_ENST00000372739.3_Missense_Mutation_p.Q2258L|SPTAN1_ENST00000372731.4_Missense_Mutation_p.Q2253L Q13813 SPTA2_HUMAN spectrin, alpha, non-erythrocytic 1 2253 actin filament capping|axon guidance|cellular component disassembly involved in apoptosis cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 87 CGCAAGCACCAGGAAATCCGA 0.617000 4 16 0 0 1 0 0 GABRA1 2554 broad.mit.edu 37 5 161309610 161309610 + Silent SNP A A G TCGA-P3-A6T7-01A-11D-A34J-08 TCGA-P3-A6T7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e651382-e28e-459c-9c96-796eb5bc714c f5db598d-2bc7-4b41-af84-47bf5309f13a g.chr5:161309610A>G ENST00000428797.2 + 8 961 c.606A>G c.(604-606)ccA>ccG p.P202P GABRA1_ENST00000437025.2_Silent_p.P202P|GABRA1_ENST00000393943.4_Silent_p.P202P|GABRA1_ENST00000444819.1_Silent_p.P202P|GABRA1_ENST00000023897.6_Silent_p.P202P|GABRA1_ENST00000420560.1_Silent_p.P202P NM_001127643.1 NP_001121115.1 P14867 GBRA1_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 1 202 gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1) 42 Renal(175;0.00259) 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;0.228) Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425) CCAGAGAGCCAGCACGCTCAG 0.398000 23 60 0 0 1 0 0 ZNF432 9668 broad.mit.edu 37 19 52538076 52538076 + Missense_Mutation SNP C C T TCGA-P3-A6T7-01A-11D-A34J-08 TCGA-P3-A6T7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e651382-e28e-459c-9c96-796eb5bc714c f5db598d-2bc7-4b41-af84-47bf5309f13a g.chr19:52538076C>T ENST00000594154.1 - 5 1068 c.856G>A c.(856-858)Gag>Aag p.E286K ZNF432_ENST00000221315.5_Missense_Mutation_p.E286K O94892 ZN432_HUMAN zinc finger protein 432 286 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 29 all_neural(266;0.117) GBM - Glioblastoma multiforme(134;0.0054)|OV - Ovarian serous cystadenocarcinoma(262;0.0182) TAGGGTTTCTCTCCAGTATGA 0.383000 44 212 0 0 1 0 0 NFKBIL1 4795 broad.mit.edu 37 6 31525422 31525422 + Missense_Mutation SNP C C T TCGA-P3-A6T7-01A-11D-A34J-08 TCGA-P3-A6T7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e651382-e28e-459c-9c96-796eb5bc714c f5db598d-2bc7-4b41-af84-47bf5309f13a g.chr6:31525422C>T ENST00000376148.4 + 3 466 c.352C>T c.(352-354)Ctc>Ttc p.L118F NFKBIL1_ENST00000376145.4_Missense_Mutation_p.L118F NM_005007.3 NP_004998.3 Q9UBC1 IKBL1_HUMAN nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor-like 1 118 cytoplasmic sequestering of transcription factor protein binding breast(1)|endometrium(2)|large_intestine(1)|lung(2)|skin(1) 7 CGATTTCTTCCTCCCGCTGCT 0.587000 9 29 0 0 1 0 0 B3GALT5 10317 broad.mit.edu 37 21 41033143 41033143 + Silent SNP C C T TCGA-P3-A6T7-01A-11D-A34J-08 TCGA-P3-A6T7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e651382-e28e-459c-9c96-796eb5bc714c f5db598d-2bc7-4b41-af84-47bf5309f13a g.chr21:41033143C>T ENST00000380620.3 + 5 1249 c.657C>T c.(655-657)taC>taT p.Y219Y B3GALT5_ENST00000398714.2_Silent_p.Y219Y|B3GALT5_ENST00000380618.1_Silent_p.Y219Y|B3GALT5_ENST00000343118.4_Silent_p.Y219Y|AF064860.5_ENST00000416555.1_RNA Q9Y2C3 B3GT5_HUMAN UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 5 219 protein glycosylation endoplasmic reticulum|Golgi membrane|integral to membrane UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1) 16 Prostate(19;2.55e-06) GCACCGGCTACGTGTTTTCTG 0.522000 8 110 0 0 1 0 0 SMAD4 4089 broad.mit.edu 37 18 48591933 48591933 + Missense_Mutation SNP C C A TCGA-P3-A6T7-01A-11D-A34J-08 TCGA-P3-A6T7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e651382-e28e-459c-9c96-796eb5bc714c f5db598d-2bc7-4b41-af84-47bf5309f13a g.chr18:48591933C>A ENST00000342988.3 + 9 1634 c.1096C>A c.(1096-1098)Caa>Aaa p.Q366K SMAD4_ENST00000398417.2_Missense_Mutation_p.Q366K|SMAD4_ENST00000588745.1_Missense_Mutation_p.Q270K NM_005359.5 NP_005350.1 Q13485 SMAD4_HUMAN SMAD family member 4 366 MH2. BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway activin responsive factor complex|centrosome|cytosol I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity p.0?(36)|p.Q366*(3)|p.?(2) NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1) 454 all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336) Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155) TTGTTTGGGTCAACTCTCCAA 0.413000 24 40 1.85244e-09 1.95312e-09 1 1 0 CHD6 84181 broad.mit.edu 37 20 40141541 40141541 + Missense_Mutation SNP G G C TCGA-P3-A6T7-01A-11D-A34J-08 TCGA-P3-A6T7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e651382-e28e-459c-9c96-796eb5bc714c f5db598d-2bc7-4b41-af84-47bf5309f13a g.chr20:40141541G>C ENST00000373233.3 - 5 973 c.796C>G c.(796-798)Ctt>Gtt p.L266V CHD6_ENST00000373222.3_Missense_Mutation_p.L301V|CHD6_ENST00000309279.7_Missense_Mutation_p.L266V NM_032221.3 NP_115597.3 Q8TD26 CHD6_HUMAN chromodomain helicase DNA binding protein 6 266 chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9) 129 Myeloproliferative disorder(115;0.00425) CCAGCTCCAAGAACAGCAATT 0.517000 84 250 0 0 1 0 0 ZNF223 7766 broad.mit.edu 37 19 44559294 44559294 + Missense_Mutation SNP T T C TCGA-P3-A6T7-01A-11D-A34J-08 TCGA-P3-A6T7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e651382-e28e-459c-9c96-796eb5bc714c f5db598d-2bc7-4b41-af84-47bf5309f13a g.chr19:44559294T>C ENST00000591793.1 + 4 378 c.295T>C c.(295-297)Tca>Cca p.S99P ZNF223_ENST00000585552.1_5'UTR|ZNF223_ENST00000434772.3_5'UTR|ZNF223_ENST00000588518.1_3'UTR Q9UK11 ZN223_HUMAN zinc finger protein 223 84 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 18 Prostate(69;0.0352) ACTGTGTCATTCAGGACTCTG 0.453000 24 61 0 0 1 0 0 LPXN 9404 broad.mit.edu 37 11 58317454 58317454 + Missense_Mutation SNP T T C rs140764119 TCGA-P3-A6T7-01A-11D-A34J-08 TCGA-P3-A6T7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e651382-e28e-459c-9c96-796eb5bc714c f5db598d-2bc7-4b41-af84-47bf5309f13a g.chr11:58317454T>C ENST00000528954.1 - 6 786 c.667A>G c.(667-669)Atc>Gtc p.I223V LPXN_ENST00000528489.1_Missense_Mutation_p.I198V|LPXN_ENST00000395074.2_Missense_Mutation_p.I218V NM_001143995.1 NP_001137467.1 O60711 LPXN_HUMAN leupaxin 218 LIM zinc-binding 2. cell adhesion|protein complex assembly|signal transduction cytoplasm zinc ion binding NS(1)|central_nervous_system(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24) ACATCCAGGATGGGAGCAGCG 0.493000 28 82 0 0 1 0 0 ZNF337 26152 broad.mit.edu 37 20 25666272 25666272 + Missense_Mutation SNP T T A TCGA-P3-A6T7-01A-11D-A34J-08 TCGA-P3-A6T7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e651382-e28e-459c-9c96-796eb5bc714c f5db598d-2bc7-4b41-af84-47bf5309f13a g.chr20:25666272T>A ENST00000376436.1 - 3 720 c.181A>T c.(181-183)Atc>Ttc p.I61F ZNF337_ENST00000538750.1_Intron|ZNF337_ENST00000252979.5_Missense_Mutation_p.I61F|ZNF337_ENST00000481610.1_5'UTR zinc finger protein 337 breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 AGCCGCCTGATGAGTTCTGGT 0.577000 27 108 0 0 1 0 0 STXBP4 252983 broad.mit.edu 37 17 53237245 53237245 + Silent SNP T T C TCGA-P3-A6T7-01A-11D-A34J-08 TCGA-P3-A6T7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e651382-e28e-459c-9c96-796eb5bc714c f5db598d-2bc7-4b41-af84-47bf5309f13a g.chr17:53237245T>C ENST00000376352.2 + 18 1842 c.1635T>C c.(1633-1635)tcT>tcC p.S545S STXBP4_ENST00000434978.2_Silent_p.S523S NM_178509.5 NP_848604.3 Q6ZWJ1 STXB4_HUMAN syntaxin binding protein 4 545 cytoplasm calcium ion binding breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(4)|ovary(1)|upper_aerodigestive_tract(2) 19 AGGATTGCTCTAGAGAACTCC 0.443000 30 49 0 0 1 0 0 PCNXL3 399909 broad.mit.edu 37 11 65385113 65385113 + Silent SNP C C T TCGA-P3-A6T7-01A-11D-A34J-08 TCGA-P3-A6T7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e651382-e28e-459c-9c96-796eb5bc714c f5db598d-2bc7-4b41-af84-47bf5309f13a g.chr11:65385113C>T ENST00000355703.3 + 5 1052 c.513C>T c.(511-513)agC>agT p.S171S NM_032223.2 NP_115599.2 Q9H6A9 PCX3_HUMAN pecanex-like 3 (Drosophila) 171 integral to membrane breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1) 13 AGCAGGGCAGCAACAATGTGA 0.617000 10 20 0 0 1 0 0 MDFI 4188 broad.mit.edu 37 6 41621152 41621152 + Missense_Mutation SNP T T A TCGA-P3-A6T7-01A-11D-A34J-08 TCGA-P3-A6T7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e651382-e28e-459c-9c96-796eb5bc714c f5db598d-2bc7-4b41-af84-47bf5309f13a g.chr6:41621152T>A ENST00000373050.4 + 4 584 c.397T>A c.(397-399)Tcg>Acg p.S133T Q99750 MDFI_HUMAN MyoD family inhibitor 194 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) CTCCTGCAGCTCGGAGGACTC 0.647000 24 109 0 0 1 0 0 GABRG2 2566 broad.mit.edu 37 5 161524737 161524737 + Missense_Mutation SNP A A G TCGA-P3-A6T7-01A-11D-A34J-08 TCGA-P3-A6T7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e651382-e28e-459c-9c96-796eb5bc714c f5db598d-2bc7-4b41-af84-47bf5309f13a g.chr5:161524737A>G ENST00000356592.3 + 4 881 c.421A>G c.(421-423)Atg>Gtg p.M141V GABRG2_ENST00000414552.2_Missense_Mutation_p.M141V|GABRG2_ENST00000361925.4_Missense_Mutation_p.M141V|GABRG2_ENST00000393933.4_Missense_Mutation_p.M46V NM_000816.3|NM_198904.2 NP_000807.2|NP_944494.1 P18507 GBRG2_HUMAN gamma-aminobutyric acid (GABA) A receptor, gamma 2 141 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) GAACAGCAACATGGTGGGGAA 0.403000 32 83 0 0 1 0 0 VPS4A 27183 broad.mit.edu 37 16 69350018 69350018 + Silent SNP C C T TCGA-P3-A6T7-01A-11D-A34J-08 TCGA-P3-A6T7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e651382-e28e-459c-9c96-796eb5bc714c f5db598d-2bc7-4b41-af84-47bf5309f13a g.chr16:69350018C>T ENST00000254950.11 + 2 285 c.129C>T c.(127-129)atC>atT p.I43I RP11-343C2.3_ENST00000570054.2_Silent_p.I67I|VPS4A_ENST00000569775.1_3'UTR NM_013245.2 NP_037377.1 Q9UN37 VPS4A_HUMAN vacuolar protein sorting 4 homolog A (S. cerevisiae) 43 Interaction with CHMP1B.|MIT. cell cycle|cellular membrane organization|cytokinesis|endosome transport|protein transport cytosol|late endosome membrane|midbody|perinuclear region of cytoplasm ATP binding|ATPase activity, coupled|protein C-terminus binding|protein domain specific binding NS(1)|central_nervous_system(1)|large_intestine(2)|lung(3) 7 Ovarian(137;0.101) TCCACGCTATCAAGTGTGAGT 0.622000 16 58 0 0 1 0 0 EPHA3 2042 broad.mit.edu 37 3 89457269 89457269 + Missense_Mutation SNP G G T TCGA-P3-A6T7-01A-11D-A34J-08 TCGA-P3-A6T7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e651382-e28e-459c-9c96-796eb5bc714c f5db598d-2bc7-4b41-af84-47bf5309f13a g.chr3:89457269G>T ENST00000336596.2 + 9 1975 c.1750G>T c.(1750-1752)Ggc>Tgc p.G584C EPHA3_ENST00000494014.1_Missense_Mutation_p.G584C NM_005233.5 NP_005224.2 P29320 EPHA3_HUMAN EPH receptor A3 584 extracellular region|integral to plasma membrane ATP binding p.G584S(1) NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5) 139 all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612) Lung NSC(201;0.0782) LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942) ACTTCATTTTGGCAATGGGCA 0.358000 TSP Lung(6;0.00050) 34 166 1.836e-18 2.00104e-18 1 1 0 TUBB8P7 197331 broad.mit.edu 37 16 90161578 90161578 + RNA SNP G G A rs13337896 by1000genomes TCGA-P3-A6T7-01A-11D-A34J-08 TCGA-P3-A6T7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e651382-e28e-459c-9c96-796eb5bc714c f5db598d-2bc7-4b41-af84-47bf5309f13a g.chr16:90161578G>A ENST00000564451.1 + 0 931 TUBB8P7_ENST00000567960.1_RNA p.R105H(3) GCCAAGGGACGCTACACCGAA 0.587000 7 51 0 0 1 0 0 GPER1 2852 broad.mit.edu 37 7 1131854 1131854 + Missense_Mutation SNP C C T TCGA-P3-A6T7-01A-11D-A34J-08 TCGA-P3-A6T7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e651382-e28e-459c-9c96-796eb5bc714c f5db598d-2bc7-4b41-af84-47bf5309f13a g.chr7:1131854C>T ENST00000397092.1 + 3 1374 c.490C>T c.(490-492)Cgc>Tgc p.R164C GPER_ENST00000397088.3_Missense_Mutation_p.R164C|C7orf50_ENST00000397100.2_Intron|C7orf50_ENST00000397098.3_Intron|C7orf50_ENST00000357429.6_Intron|C7orf50_ENST00000488073.1_Intron|GPER_ENST00000401670.1_Missense_Mutation_p.R164C|GPER_ENST00000297469.3_Missense_Mutation_p.R164C NM_001039966.1 NP_001035055.1 Q99527 GPER_HUMAN 164 endoplasmic reticulum membrane|Golgi membrane|integral to plasma membrane G-protein coupled receptor activity breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1) 13 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;2.32e-16) CAGGGCCATGCGCTGCAGCCT 0.627000 10 56 0 0 1 0 0 OR5F1 338674 broad.mit.edu 37 11 55761592 55761592 + Missense_Mutation SNP G G T TCGA-P3-A6T7-01A-11D-A34J-08 TCGA-P3-A6T7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e651382-e28e-459c-9c96-796eb5bc714c f5db598d-2bc7-4b41-af84-47bf5309f13a g.chr11:55761592G>T ENST00000278409.1 - 1 509 c.510C>A c.(508-510)gaC>gaA p.D170E NM_003697.1 NP_003688.1 O95221 OR5F1_HUMAN olfactory receptor, family 5, subfamily F, member 1 170 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 58 Esophageal squamous(21;0.00448) TGACATTGGAGTCACAGAATG 0.473000 22 75 2.39556e-15 2.58189e-15 1 1 0 IDS 3423 broad.mit.edu 37 X 148582533 148582533 + Missense_Mutation SNP T T A TCGA-P3-A6T7-01A-11D-A34J-08 TCGA-P3-A6T7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e651382-e28e-459c-9c96-796eb5bc714c f5db598d-2bc7-4b41-af84-47bf5309f13a g.chrX:148582533T>A ENST00000340855.6 - 4 663 c.454A>T c.(454-456)Agc>Tgc p.S152C IDS_ENST00000370443.4_Missense_Mutation_p.S152C|IDS_ENST00000541269.1_5'UTR|IDS_ENST00000370441.4_Missense_Mutation_p.S152C|IDS_ENST00000490775.1_5'UTR|AF011889.5_ENST00000422081.1_RNA NM_000202.5|NM_001166550.1 NP_000193.1|NP_001160022.1 P22304 IDS_HUMAN iduronate 2-sulfatase 152 lysosome iduronate-2-sulfatase activity|metal ion binding NS(1)|breast(3)|endometrium(5)|large_intestine(2)|lung(8)|prostate(1) 20 Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662) AAAGACCAGCTATACGGAGAA 0.388000 23 29 0 0 1 0 0 BFSP1 631 broad.mit.edu 37 20 17479642 17479642 + Missense_Mutation SNP T T C TCGA-P3-A6T7-01A-11D-A34J-08 TCGA-P3-A6T7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e651382-e28e-459c-9c96-796eb5bc714c f5db598d-2bc7-4b41-af84-47bf5309f13a g.chr20:17479642T>C ENST00000377873.3 - 6 818 c.779A>G c.(778-780)tAt>tGt p.Y260C BFSP1_ENST00000544874.1_Missense_Mutation_p.Y121C|BFSP1_ENST00000536626.1_Missense_Mutation_p.Y121C|BFSP1_ENST00000377868.2_Missense_Mutation_p.Y135C NM_001195.3 NP_001186.1 Q12934 BFSP1_HUMAN beaded filament structural protein 1, filensin 260 Coil 2.|Rod. cytoplasm|intermediate filament|membrane structural constituent of cytoskeleton|structural constituent of eye lens central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)|stomach(1) 18 CTCATCGTCATAACACTCATG 0.478000 38 105 0 0 1 0 0 CACNA1I 8911 broad.mit.edu 37 22 40066188 40066188 + Missense_Mutation SNP G G A TCGA-P3-A6T7-01A-11D-A34J-08 TCGA-P3-A6T7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e651382-e28e-459c-9c96-796eb5bc714c f5db598d-2bc7-4b41-af84-47bf5309f13a g.chr22:40066188G>A ENST00000336649.4 + 28 4358 c.4358G>A c.(4357-4359)cGg>cAg p.R1453Q CACNA1I_ENST00000404898.1_Missense_Mutation_p.R1412Q|CACNA1I_ENST00000401624.1_Missense_Mutation_p.R1447Q|CACNA1I_ENST00000400164.3_Missense_Mutation_p.R1412Q|CACNA1I_ENST00000402142.3_Missense_Mutation_p.R1447Q|CACNA1I_ENST00000407673.1_Missense_Mutation_p.R1412Q Q9P0X4 CAC1I_HUMAN calcium channel, voltage-dependent, T type, alpha 1I subunit 1447 axon guidance|signal transduction voltage-gated calcium channel complex low voltage-gated calcium channel activity|protein binding breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 60 Melanoma(58;0.0749) Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661) GAAGAGGCACGGCGGCGTGAG 0.627000 40 115 0 0 1 0 0 TBX2 6909 broad.mit.edu 37 17 59485538 59485538 + Missense_Mutation SNP G G A rs147014278 TCGA-P3-A6T7-01A-11D-A34J-08 TCGA-P3-A6T7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e651382-e28e-459c-9c96-796eb5bc714c f5db598d-2bc7-4b41-af84-47bf5309f13a g.chr17:59485538G>A ENST00000240328.3 + 7 2091 c.1810G>A c.(1810-1812)Ggc>Agc p.G604S RP11-332H18.4_ENST00000592009.1_RNA NM_005994.3 NP_005985.3 Q13207 TBX2_HUMAN T-box 2 604 cell aging|positive regulation of cell proliferation sequence-specific DNA binding endometrium(1)|lung(7)|ovary(1) 9 cgcagccgccgGCTCCCTCTC 0.697000 11 30 0 0 1 0 0 GRM3 2913 broad.mit.edu 37 7 86468506 86468506 + Missense_Mutation SNP T T G TCGA-P3-A6T7-01A-11D-A34J-08 TCGA-P3-A6T7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e651382-e28e-459c-9c96-796eb5bc714c f5db598d-2bc7-4b41-af84-47bf5309f13a g.chr7:86468506T>G ENST00000361669.2 + 4 2775 c.1676T>G c.(1675-1677)cTa>cGa p.L559R GRM3_ENST00000536043.1_Missense_Mutation_p.L431R|GRM3_ENST00000439827.1_Intron|GRM3_ENST00000394720.2_Intron|GRM3_ENST00000546348.1_Missense_Mutation_p.L151R NM_000840.2 NP_000831.2 Q14832 GRM3_HUMAN glutamate receptor, metabotropic 3 559 synaptic transmission integral to plasma membrane NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5) 109 Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142) Acamprosate(DB00659)|Nicotine(DB00184) ACTGCAGACCTAACTGGATGC 0.532000 31 92 0 0 1 0 0 RP11-24M17.5 0 broad.mit.edu 37 15 76074470 76074470 + RNA SNP A A G TCGA-P3-A6T7-01A-11D-A34J-08 TCGA-P3-A6T7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e651382-e28e-459c-9c96-796eb5bc714c f5db598d-2bc7-4b41-af84-47bf5309f13a g.chr15:76074470A>G ENST00000395215.3 + 0 649 p.Q203R(4) CGGTTACAGCAGACCATAAAG 0.577000 8 60 0 0 1 0 0 SLAMF7 57823 broad.mit.edu 37 1 160720095 160720095 + Splice_Site SNP T T C TCGA-P3-A6T7-01A-11D-A34J-08 TCGA-P3-A6T7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e651382-e28e-459c-9c96-796eb5bc714c f5db598d-2bc7-4b41-af84-47bf5309f13a g.chr1:160720095T>C ENST00000368043.3 + 4 688 c.649_splice c.e4-1 p.G217_splice SLAMF7_ENST00000444090.2_Intron|SLAMF7_ENST00000368042.3_Splice_Site_p.G110_splice|SLAMF7_ENST00000359331.4_Splice_Site_p.G217_splice|SLAMF7_ENST00000458104.2_Intron|SLAMF7_ENST00000441662.2_Intron|SLAMF7_ENST00000458602.2_Intron NM_021181.3 NP_067004.3 Q9NQ25 SLAF7_HUMAN SLAM family member 7 217 cell adhesion|natural killer cell activation|natural killer cell mediated cytotoxicity integral to membrane receptor activity breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(4) 24 all_cancers(52;2.63e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.0175) TCTCTGAAGGTGCTGCTGATG 0.552000 51 164 0 0 1 0 0 RP11-542C16.2 0 broad.mit.edu 37 17 7220820 7220820 + Missense_Mutation SNP G G A TCGA-P3-A6T7-01A-11D-A34J-08 TCGA-P3-A6T7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e651382-e28e-459c-9c96-796eb5bc714c f5db598d-2bc7-4b41-af84-47bf5309f13a g.chr17:7220820G>A ENST00000575474.1 - 6 718 c.719C>T c.(718-720)cCg>cTg p.P240L NEURL4_ENST00000574120.1_5'UTR|NEURL4_ENST00000570460.1_Silent_p.A1402A|NEURL4_ENST00000399464.2_Silent_p.A1426A|NEURL4_ENST00000315614.7_Silent_p.A1424A TCCGTACAGCGGCAACATTGC 0.602000 25 29 0 0 1 0 0 NLRP8 126205 broad.mit.edu 37 19 56466706 56466706 + Missense_Mutation SNP G G A TCGA-P3-A6T7-01A-11D-A34J-08 TCGA-P3-A6T7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e651382-e28e-459c-9c96-796eb5bc714c f5db598d-2bc7-4b41-af84-47bf5309f13a g.chr19:56466706G>A ENST00000291971.3 + 3 1353 c.1282G>A c.(1282-1284)Gtc>Atc p.V428I NLRP8_ENST00000590542.1_Missense_Mutation_p.V428I NM_176811.2 NP_789781.2 Q86W28 NALP8_HUMAN NLR family, pyrin domain containing 8 428 NACHT. cytoplasm ATP binding p.V428I(1) breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2) 35 Colorectal(82;0.000147)|Ovarian(87;0.17) GBM - Glioblastoma multiforme(193;0.0695) CTCTGTGTTCGTCCGGTATAT 0.498000 30 138 0 0 1 0 0 DLX6 1750 broad.mit.edu 37 7 96637143 96637143 + Splice_Site SNP G G A TCGA-P3-A6T7-01A-11D-A34J-08 TCGA-P3-A6T7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e651382-e28e-459c-9c96-796eb5bc714c f5db598d-2bc7-4b41-af84-47bf5309f13a g.chr7:96637143G>A ENST00000518156.2 + 2 1060 c.630_splice c.e2+1 p.Q210_splice DLX6_ENST00000007660.5_Splice_Site_p.Q182_splice|DLX6_ENST00000555308.1_Splice_Site_p.Q82_splice|DLX6-AS1_ENST00000437331.2_RNA|DLX6_ENST00000493273.2_3'UTR|DLX6-AS1_ENST00000452769.2_RNA|DLX6-AS1_ENST00000458352.2_RNA|DLX6-AS1_ENST00000437541.1_RNA|DLX6-AS1_ENST00000430027.2_RNA|DLX6-AS1_ENST00000430404.2_RNA|DLX6-AS1_ENST00000605417.1_RNA P56179 DLX6_HUMAN distal-less homeobox 6 92 nervous system development|skeletal system development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(2)|lung(4)|ovary(2)|urinary_tract(1) 12 all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858) CACAAACACAGGTAATTCCCG 0.527000 4 15 0 0 1 0 0 ABI3BP 25890 broad.mit.edu 37 3 100566448 100566448 + Missense_Mutation SNP G G A TCGA-P3-A6T7-01A-11D-A34J-08 TCGA-P3-A6T7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e651382-e28e-459c-9c96-796eb5bc714c f5db598d-2bc7-4b41-af84-47bf5309f13a g.chr3:100566448G>A ENST00000471714.1 - 19 1776 c.1667C>T c.(1666-1668)cCg>cTg p.P556L ABI3BP_ENST00000284322.5_Missense_Mutation_p.P507L|ABI3BP_ENST00000495063.1_Missense_Mutation_p.P556L Q7Z7G0 TARSH_HUMAN ABI family, member 3 (NESH) binding protein 507 Pro-rich. extracellular space p.P556Q(1)|p.P508L(1)|p.P508Q(1) central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 50 ATTATTACCCGGTGTTGTCCA 0.373000 85 117 0 0 1 0 0 DCLK1 9201 broad.mit.edu 37 13 36700120 36700120 + Missense_Mutation SNP G G C TCGA-P3-A6T7-01A-11D-A34J-08 TCGA-P3-A6T7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e651382-e28e-459c-9c96-796eb5bc714c f5db598d-2bc7-4b41-af84-47bf5309f13a g.chr13:36700120G>C ENST00000255448.4 - 2 366 c.155C>G c.(154-156)tCc>tGc p.S52C DCLK1_ENST00000379892.4_Missense_Mutation_p.S52C|DCLK1_ENST00000360631.3_Missense_Mutation_p.S52C NM_004734.4 NP_004725.1 O15075 DCLK1_HUMAN doublecortin-like kinase 1 52 cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus integral to plasma membrane ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1) 64 Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122) KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169) all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638) CTTCTTCTCGGAGCTGAGCGT 0.582000 14 28 0 0 1 0 0 HSPBP1 23640 broad.mit.edu 37 19 55776657 55776657 + Nonsense_Mutation SNP C C A TCGA-P3-A6T7-01A-11D-A34J-08 TCGA-P3-A6T7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e651382-e28e-459c-9c96-796eb5bc714c f5db598d-2bc7-4b41-af84-47bf5309f13a g.chr19:55776657C>A ENST00000255631.5 - 8 1304 c.994G>T c.(994-996)Gag>Tag p.E332* HSPBP1_ENST00000433386.2_Nonsense_Mutation_p.E332*|HSPBP1_ENST00000376343.3_Nonsense_Mutation_p.E230*|HSPBP1_ENST00000587922.1_Nonsense_Mutation_p.E332* NM_001130106.1|NM_012267.4 NP_001123578.1|NP_036399.3 Q9NZL4 HPBP1_HUMAN HSPA (heat shock 70kDa) binding protein, cytoplasmic cochaperone 1 335 positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein folding enzyme inhibitor activity|protein binding endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|urinary_tract(1) 8 BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.0452) TGGTACTCCTCATGCTGCTGC 0.667000 30 123 4.31634e-10 4.60093e-10 1 1 0 PI4KA 5297 broad.mit.edu 37 22 21083735 21083735 + Silent SNP T T C TCGA-P3-A6T7-01A-11D-A34J-08 TCGA-P3-A6T7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e651382-e28e-459c-9c96-796eb5bc714c f5db598d-2bc7-4b41-af84-47bf5309f13a g.chr22:21083735T>C ENST00000255882.6 - 39 4634 c.4548A>G c.(4546-4548)gaA>gaG p.E1516E PI4KA_ENST00000572273.1_Silent_p.E1458E|PI4KA_ENST00000414196.3_Silent_p.E268E NM_058004.3 NP_477352.3 P42356 PI4KA_HUMAN phosphatidylinositol 4-kinase, catalytic, alpha 1458 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) CCTGGTCTAGTTCCAGTTCCG 0.552000 10 31 0 0 1 0 0 PHACTR2 9749 broad.mit.edu 37 6 144086485 144086485 + Nonsense_Mutation SNP C C G TCGA-P3-A6T7-01A-11D-A34J-08 TCGA-P3-A6T7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e651382-e28e-459c-9c96-796eb5bc714c f5db598d-2bc7-4b41-af84-47bf5309f13a g.chr6:144086485C>G ENST00000427704.2 + 6 879 c.749C>G c.(748-750)tCa>tGa p.S250* PHACTR2_ENST00000367584.4_Nonsense_Mutation_p.S238*|PHACTR2_ENST00000305766.6_Nonsense_Mutation_p.S170*|PHACTR2_ENST00000440869.2_Nonsense_Mutation_p.S261*|PHACTR2_ENST00000367582.3_Nonsense_Mutation_p.S181* NM_001100166.1|NM_014721.2 NP_001093636.1|NP_055536.2 O75167 PHAR2_HUMAN phosphatase and actin regulator 2 250 actin binding|protein phosphatase inhibitor activity NS(3)|breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2) 30 OV - Ovarian serous cystadenocarcinoma(155;1.58e-05)|GBM - Glioblastoma multiforme(68;0.0386) CCCAAAGCTTCAAAGGAGACA 0.478000 37 118 0 0 1 0 0 SZT2 23334 broad.mit.edu 37 1 43909353 43909353 + Missense_Mutation SNP G G A TCGA-P3-A6T7-01A-11D-A34J-08 TCGA-P3-A6T7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e651382-e28e-459c-9c96-796eb5bc714c f5db598d-2bc7-4b41-af84-47bf5309f13a g.chr1:43909353G>A ENST00000562955.1 + 61 8540 c.8540G>A c.(8539-8541)cGt>cAt p.R2847H SZT2_ENST00000372442.1_Missense_Mutation_p.R2005H NM_015284.3 NP_056099.3 Q5T011 SZT2_HUMAN seizure threshold 2 homolog (mouse) 2904 peroxisome NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 113 CCGGGAGCCCGTGAGGAGCCT 0.602000 39 115 0 0 1 0 0 TUBD1 51174 broad.mit.edu 37 17 57952011 57952011 + Missense_Mutation SNP G G A TCGA-P3-A6T7-01A-11D-A34J-08 TCGA-P3-A6T7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e651382-e28e-459c-9c96-796eb5bc714c f5db598d-2bc7-4b41-af84-47bf5309f13a g.chr17:57952011G>A ENST00000325752.3 - 6 1100 c.823C>T c.(823-825)Cgt>Tgt p.R275C TUBD1_ENST00000394239.3_Missense_Mutation_p.R275C|TUBD1_ENST00000346141.6_Intron|TUBD1_ENST00000340993.6_Intron|TUBD1_ENST00000592426.1_Missense_Mutation_p.R275C|TUBD1_ENST00000376094.4_Intron|TUBD1_ENST00000539018.1_Missense_Mutation_p.R59C NM_016261.3 NP_057345.2 Q9UJT1 TBD_HUMAN tubulin, delta 1 275 cell differentiation|microtubule-based movement|multicellular organismal development|protein polymerization|spermatogenesis centriole|microtubule|nucleus GTP binding|GTPase activity|structural molecule activity NS(2)|breast(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(2) 21 all_cancers(5;3.18e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922) Epithelial(12;9.34e-13)|all cancers(12;1.91e-11) GGAATGTTACGAACACTCAGC 0.368000 5 306 0 0 1 0 0 ZNF271P 10778 broad.mit.edu 37 18 32887862 32887862 + RNA SNP G G A TCGA-P3-A6T7-01A-11D-A34J-08 TCGA-P3-A6T7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e651382-e28e-459c-9c96-796eb5bc714c f5db598d-2bc7-4b41-af84-47bf5309f13a g.chr18:32887862G>A ENST00000399070.3 + 0 2256 NR_024565.1|NR_024566.1 large_intestine(3)|lung(9) 12 GATTATTGATGAGTATGAAAA 0.383000 8 43 0 0 1 0 0 DST 667 broad.mit.edu 37 6 56437563 56437563 + Silent SNP T T C TCGA-P3-A6T7-01A-11D-A34J-08 TCGA-P3-A6T7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e651382-e28e-459c-9c96-796eb5bc714c f5db598d-2bc7-4b41-af84-47bf5309f13a g.chr6:56437563T>C ENST00000370754.5 - 52 13442 c.13443A>G c.(13441-13443)gaA>gaG p.E4481E DST_ENST00000421834.2_Silent_p.E2215E|DST_ENST00000244364.6_Silent_p.E1889E|DST_ENST00000370788.2_Silent_p.E2215E|DST_ENST00000370769.4_Silent_p.E4303E|DST_ENST00000312431.6_3'UTR|DST_ENST00000446842.2_Silent_p.E3977E|DST_ENST00000361203.3_Silent_p.E4301E Q03001 DYST_HUMAN dystonin 4301 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) ACTGAGACAATTCAGTAACAT 0.378000 12 20 0 0 1 0 0 HYDIN 54768 broad.mit.edu 37 16 70916787 70916787 + Missense_Mutation SNP C C T TCGA-P3-A6T7-01A-11D-A34J-08 TCGA-P3-A6T7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e651382-e28e-459c-9c96-796eb5bc714c f5db598d-2bc7-4b41-af84-47bf5309f13a g.chr16:70916787C>T ENST00000393567.2 - 60 10141 c.9991G>A c.(9991-9993)Gaa>Aaa p.E3331K NM_001270974.1 NP_001257903.1 Q4G0P3 HYDIN_HUMAN HYDIN, axonemal central pair apparatus protein 3331 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 43 Ovarian(137;0.0654) GCATTGTTTTCGGTCACGAAG 0.512000 17 51 0 0 1 0 0 CLCNKA 1187 broad.mit.edu 37 1 16359723 16359723 + Missense_Mutation SNP G G C TCGA-P3-A6T7-01A-11D-A34J-08 TCGA-P3-A6T7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e651382-e28e-459c-9c96-796eb5bc714c f5db598d-2bc7-4b41-af84-47bf5309f13a g.chr1:16359723G>C ENST00000375692.1 + 20 2113 c.1985G>C c.(1984-1986)aGa>aCa p.R662T CLCNKA_ENST00000464764.1_3'UTR|CLCNKA_ENST00000420078.1_Missense_Mutation_p.R662T|CLCNKA_ENST00000439316.2_Missense_Mutation_p.R620T|CLCNKA_ENST00000331433.4_Missense_Mutation_p.R663T P51800 CLCKA_HUMAN chloride channel, voltage-sensitive Ka 663 CBS 2. excretion chloride channel complex|integral to plasma membrane voltage-gated chloride channel activity breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1) 19 Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649) Niflumic Acid(DB04552) TCGCGGGGCAGAGCTGTGGGC 0.607000 OREG0013132 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 52 163 0 0 1 0 0 TPRA1 131601 broad.mit.edu 37 3 127292391 127292391 + Silent SNP G G A TCGA-P3-A6T7-01A-11D-A34J-08 TCGA-P3-A6T7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e651382-e28e-459c-9c96-796eb5bc714c f5db598d-2bc7-4b41-af84-47bf5309f13a g.chr3:127292391G>A ENST00000355552.3 - 11 1471 c.1095C>T c.(1093-1095)agC>agT p.S365S TPRA1_ENST00000489960.1_Silent_p.S365S|TPRA1_ENST00000450633.2_Silent_p.S365S|TPRA1_ENST00000296210.7_3'UTR NM_001136053.1 NP_001129525.1 Q86W33 TPRA1_HUMAN transmembrane protein, adipocyte asscociated 1 365 aging|lipid metabolic process integral to membrane G-protein coupled receptor activity endometrium(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 9 TCCAGCGCTCGCTGTCTGTGC 0.657000 16 70 0 0 1 0 0 FLVCR1 28982 broad.mit.edu 37 1 213068340 213068340 + Missense_Mutation SNP C C A TCGA-P3-A6T7-01A-11D-A34J-08 TCGA-P3-A6T7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e651382-e28e-459c-9c96-796eb5bc714c f5db598d-2bc7-4b41-af84-47bf5309f13a g.chr1:213068340C>A ENST00000366971.4 + 9 1736 c.1538C>A c.(1537-1539)tCt>tAt p.S513Y FLVCR1_ENST00000483790.1_3'UTR NM_014053.3 NP_054772.1 Q9Y5Y0 FLVC1_HUMAN feline leukemia virus subgroup C cellular receptor 1 513 cell death|cellular iron ion homeostasis|heme export|transmembrane transport integral to plasma membrane heme transporter activity|protein binding|receptor activity cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(2) 12 OV - Ovarian serous cystadenocarcinoma(81;0.00733)|all cancers(67;0.013)|GBM - Glioblastoma multiforme(131;0.0845)|Epithelial(68;0.11) TTAATCAAGTCTGATCTGCGA 0.299000 56 243 2.18419e-29 2.40758e-29 1 1 0 CASC1 55259 broad.mit.edu 37 12 25264751 25264751 + Missense_Mutation SNP G G C TCGA-P3-A6T7-01A-11D-A34J-08 TCGA-P3-A6T7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e651382-e28e-459c-9c96-796eb5bc714c f5db598d-2bc7-4b41-af84-47bf5309f13a g.chr12:25264751G>C ENST00000354189.5 - 14 1943 c.1908C>G c.(1906-1908)atC>atG p.I636M CASC1_ENST00000545133.1_Missense_Mutation_p.I513M|CASC1_ENST00000537577.1_Missense_Mutation_p.I460M|CASC1_ENST00000395987.3_Missense_Mutation_p.I578M|CASC1_ENST00000395990.2_Missense_Mutation_p.I532M|CASC1_ENST00000320267.9_Missense_Mutation_p.I572M NM_001082972.1 NP_001076441.1 Q6TDU7 CASC1_HUMAN cancer susceptibility candidate 1 572 breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(3)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 31 Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Melanoma(3;0.0301)|Colorectal(261;0.11) OV - Ovarian serous cystadenocarcinoma(3;7.42e-20)|Epithelial(3;7.58e-16)|all cancers(3;1.07e-13) TAGTAGGAAAGATATTCAGTC 0.318000 27 58 0 0 1 0 0 LEPR 3953 broad.mit.edu 37 1 66075711 66075711 + Missense_Mutation SNP C C T TCGA-P3-A6T7-01A-11D-A34J-08 TCGA-P3-A6T7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e651382-e28e-459c-9c96-796eb5bc714c f5db598d-2bc7-4b41-af84-47bf5309f13a g.chr1:66075711C>T ENST00000349533.6 + 13 2019 c.1834C>T c.(1834-1836)Cgc>Tgc p.R612C LEPR_ENST00000344610.8_Missense_Mutation_p.R612C|LEPR_ENST00000462765.1_3'UTR|LEPR_ENST00000371059.3_Missense_Mutation_p.R612C|LEPR_ENST00000371060.3_Missense_Mutation_p.R612C|LEPR_ENST00000406510.3_Intron|LEPR_ENST00000371058.1_Missense_Mutation_p.R612C NM_002303.5 NP_002294.2 P48357 LEPR_HUMAN leptin receptor 612 Fibronectin type-III 2. energy reserve metabolic process|multicellular organismal development extracellular region|integral to membrane|plasma membrane cytokine receptor activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2) 36 OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094) TGTTCAGGTGCGCTGTAAGAG 0.413000 4 186 0 0 1 0 0 CYP4A22 284541 broad.mit.edu 37 1 47610489 47610489 + Missense_Mutation SNP T T C TCGA-P3-A6T7-01A-11D-A34J-08 TCGA-P3-A6T7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e651382-e28e-459c-9c96-796eb5bc714c f5db598d-2bc7-4b41-af84-47bf5309f13a g.chr1:47610489T>C ENST00000371890.3 + 7 811 c.775T>C c.(775-777)Tca>Cca p.S259P CYP4A22_ENST00000371891.3_Intron|CYP4A22_ENST00000294337.3_Intron|CYP4A22_ENST00000485117.1_3'UTR|CYP4A22-AS1_ENST00000444042.2_lincRNA Q5TCH4 CP4AM_HUMAN cytochrome P450, family 4, subfamily A, polypeptide 22 0 endoplasmic reticulum membrane|microsome alkane 1-monooxygenase activity|electron carrier activity|heme binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 TTGCTGGTGTTCAGGATGGAA 0.592000 3 21 0 0 1 0 0 MUC5B 727897 broad.mit.edu 37 11 1268538 1268538 + Silent SNP G G A TCGA-P3-A6T7-01A-11D-A34J-08 TCGA-P3-A6T7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e651382-e28e-459c-9c96-796eb5bc714c f5db598d-2bc7-4b41-af84-47bf5309f13a g.chr11:1268538G>A ENST00000447027.1 + 31 10495 c.10437G>A c.(10435-10437)tcG>tcA p.S3479S MUC5B_ENST00000529681.1_Silent_p.S3476S|RP11-532E4.2_ENST00000532061.2_RNA Q9HC84 MUC5B_HUMAN mucin 5B, oligomeric mucus/gel-forming 3476 7 X Cys-rich subdomain repeats.|Thr-rich. Missing (in Ref. 6; AAB61398). cell adhesion extracellular region extracellular matrix structural constituent|protein binding cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1) 137 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) CGGCCACCTCGGGCATCTTGG 0.667000 9 100 0 0 1 0 0 CHRNG 1146 broad.mit.edu 37 2 233410351 233410351 + Silent SNP C C T TCGA-P3-A6T7-01A-11D-A34J-08 TCGA-P3-A6T7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e651382-e28e-459c-9c96-796eb5bc714c f5db598d-2bc7-4b41-af84-47bf5309f13a g.chr2:233410351C>T ENST00000389494.3 + 12 1500 c.1479C>T c.(1477-1479)ctC>ctT p.L493L CHRNG_ENST00000389492.3_Silent_p.L441L NM_005199.4 NP_005190.4 P07510 ACHG_HUMAN cholinergic receptor, nicotinic, gamma (muscle) 493 muscle contraction cell junction|postsynaptic membrane acetylcholine receptor activity breast(2)|endometrium(3)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1) 22 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Epithelial(121;6.39e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00079)|LUSC - Lung squamous cell carcinoma(224;0.00757)|Lung(119;0.0086) GCATCTTCCTCATGGCCCACT 0.627000 46 30 0 0 1 0 0 DDX41 51428 broad.mit.edu 37 5 176942237 176942237 + Missense_Mutation SNP C C G TCGA-P3-A6T7-01A-11D-A34J-08 TCGA-P3-A6T7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e651382-e28e-459c-9c96-796eb5bc714c f5db598d-2bc7-4b41-af84-47bf5309f13a g.chr5:176942237C>G ENST00000507955.1 - 7 1117 c.594G>C c.(592-594)aaG>aaC p.K198N DDX41_ENST00000506965.1_5'UTR NM_016222.2 NP_057306.2 Q9UJV9 DDX41_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 41 198 apoptosis|multicellular organismal development catalytic step 2 spliceosome ATP binding|ATP-dependent helicase activity|protein binding|RNA binding|zinc ion binding all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191) GAATGCCTTTCTTCTTCAGGC 0.532000 32 101 0 0 1 0 0 OR6S1 341799 broad.mit.edu 37 14 21109086 21109086 + Silent SNP A A G TCGA-P3-A6T7-01A-11D-A34J-08 TCGA-P3-A6T7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e651382-e28e-459c-9c96-796eb5bc714c f5db598d-2bc7-4b41-af84-47bf5309f13a g.chr14:21109086A>G ENST00000320704.3 - 1 764 c.765T>C c.(763-765)taT>taC p.Y255Y NM_001001968.1 NP_001001968.1 Q8NH40 OR6S1_HUMAN olfactory receptor, family 6, subfamily S, member 1 255 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 23 all_cancers(95;0.00304) Epithelial(56;1.23e-06)|all cancers(55;1.01e-05) GBM - Glioblastoma multiforme(265;0.0135) TGGCACTTCCATAGAAGAGGG 0.517000 36 61 0 0 1 0 0 NR1H2 7376 broad.mit.edu 37 19 50882024 50882024 + Missense_Mutation SNP C C T TCGA-P3-A6T7-01A-11D-A34J-08 TCGA-P3-A6T7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e651382-e28e-459c-9c96-796eb5bc714c f5db598d-2bc7-4b41-af84-47bf5309f13a g.chr19:50882024C>T ENST00000542413.1 + 10 1470 c.43C>T c.(43-45)Cgc>Tgc p.R15C NR1H2_ENST00000411902.2_Missense_Mutation_p.R143C|NR1H2_ENST00000253727.5_Missense_Mutation_p.R240C|NR1H2_ENST00000593926.1_Missense_Mutation_p.R240C|NR1H2_ENST00000599105.1_Missense_Mutation_p.R240C|NR1H2_ENST00000598168.1_Missense_Mutation_p.R240C P55055 NR1H2_HUMAN nuclear receptor subfamily 1, group H, member 2 240 negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of lipid transport|negative regulation of pinocytosis|negative regulation of transcription, DNA-dependent|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of triglyceride biosynthetic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor cytoplasm|nucleoplasm sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding endometrium(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(2) 8 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186) GTGCAACAAACGCTCCTTCTC 0.617000 12 52 0 0 1 0 0 PIK3C2G 5288 broad.mit.edu 37 12 18699354 18699354 + Missense_Mutation SNP G G A TCGA-P3-A6T7-01A-11D-A34J-08 TCGA-P3-A6T7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e651382-e28e-459c-9c96-796eb5bc714c f5db598d-2bc7-4b41-af84-47bf5309f13a g.chr12:18699354G>A ENST00000433979.1 + 25 3571 c.3455G>A c.(3454-3456)aGt>aAt p.S1152N PIK3C2G_ENST00000266497.5_Missense_Mutation_p.S1152N|PIK3C2G_ENST00000538779.1_Missense_Mutation_p.S1193N NM_004570.4 NP_004561.3 O75747 P3C2G_HUMAN phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma 1152 PI3K/PI4K. cell communication|phosphatidylinositol-mediated signaling membrane|phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1) 66 Hepatocellular(102;0.194) GAAGCAACAAGTCATTTTACC 0.423000 9 16 0 0 1 0 0 MUC5B 727897 broad.mit.edu 37 11 1269173 1269173 + Missense_Mutation SNP G G A TCGA-P3-A6T7-01A-11D-A34J-08 TCGA-P3-A6T7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e651382-e28e-459c-9c96-796eb5bc714c f5db598d-2bc7-4b41-af84-47bf5309f13a g.chr11:1269173G>A ENST00000447027.1 + 31 11130 c.11072G>A c.(11071-11073)gGg>gAg p.G3691E MUC5B_ENST00000529681.1_Missense_Mutation_p.G3688E|RP11-532E4.2_ENST00000532061.2_RNA Q9HC84 MUC5B_HUMAN mucin 5B, oligomeric mucus/gel-forming 3688 11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich. Missing (in Ref. 6; AAB61398). cell adhesion extracellular region extracellular matrix structural constituent|protein binding cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1) 137 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) TCAACTCCGGGGACGACCTGG 0.617000 77 237 0 0 1 0 0 KIF21B 23046 broad.mit.edu 37 1 200969588 200969588 + Missense_Mutation SNP C C T TCGA-P3-A6T7-01A-11D-A34J-08 TCGA-P3-A6T7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e651382-e28e-459c-9c96-796eb5bc714c f5db598d-2bc7-4b41-af84-47bf5309f13a g.chr1:200969588C>T ENST00000332129.2 - 11 1931 c.1615G>A c.(1615-1617)Gag>Aag p.E539K KIF21B_ENST00000422435.2_Missense_Mutation_p.E539K|KIF21B_ENST00000360529.5_Missense_Mutation_p.E539K|KIF21B_ENST00000461742.2_Missense_Mutation_p.E539K NM_001252102.1|NM_001252103.1|NM_017596.3 NP_001239031.1|NP_001239032.1|NP_060066.2 O75037 KI21B_HUMAN kinesin family member 21B 539 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2) 83 CGGATCACCTCCGAGGCATCC 0.677000 35 112 0 0 1 0 0 MYOZ1 58529 broad.mit.edu 37 10 75397615 75397615 + Missense_Mutation SNP C C T TCGA-P3-A6T7-01A-11D-A34J-08 TCGA-P3-A6T7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e651382-e28e-459c-9c96-796eb5bc714c f5db598d-2bc7-4b41-af84-47bf5309f13a g.chr10:75397615C>T ENST00000359322.4 - 3 503 c.139G>A c.(139-141)Gag>Aag p.E47K NM_021245.3 NP_067068.1 Q9NP98 MYOZ1_HUMAN myozenin 1 47 myofibril assembly nucleus|pseudopodium FATZ binding central_nervous_system(1)|large_intestine(5)|lung(2)|ovary(2)|skin(2) 12 Prostate(51;0.0112) GACAGTTCCTCCAACATCACA 0.493000 55 155 0 0 1 0 0 BARHL2 343472 broad.mit.edu 37 1 91180280 91180280 + Missense_Mutation SNP C C T TCGA-P3-A6T7-01A-11D-A34J-08 TCGA-P3-A6T7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e651382-e28e-459c-9c96-796eb5bc714c f5db598d-2bc7-4b41-af84-47bf5309f13a g.chr1:91180280C>T ENST00000370445.4 - 2 700 c.659G>A c.(658-660)aGt>aAt p.S220N NM_020063.1 NP_064447.1 Q9NY43 BARH2_HUMAN BarH-like homeobox 2 220 nucleus sequence-specific DNA binding cervix(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 24 all_lung(203;0.0263)|Lung SC(238;0.128) all cancers(265;0.000897)|Epithelial(280;0.00516)|OV - Ovarian serous cystadenocarcinoma(397;0.211) CTCACGGCTACTCGTAATCTC 0.552000 44 139 0 0 1 0 0 FHDC1 85462 broad.mit.edu 37 4 153897628 153897628 + Missense_Mutation SNP G G A TCGA-P3-A6T7-01A-11D-A34J-08 TCGA-P3-A6T7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e651382-e28e-459c-9c96-796eb5bc714c f5db598d-2bc7-4b41-af84-47bf5309f13a g.chr4:153897628G>A ENST00000511601.1 + 12 3373 c.3185G>A c.(3184-3186)cGg>cAg p.R1062Q FHDC1_ENST00000260008.3_Missense_Mutation_p.R1062Q Q9C0D6 FHDC1_HUMAN FH2 domain containing 1 1062 actin cytoskeleton organization actin binding ARFIP1/FHDC1(2) NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 43 all_hematologic(180;0.093) GGCATCACTCGGACAGTGTCG 0.657000 9 73 0 0 1 0 0 CUL9 23113 broad.mit.edu 37 6 43152524 43152524 + Missense_Mutation SNP C C G TCGA-P3-A6T7-01A-11D-A34J-08 TCGA-P3-A6T7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e651382-e28e-459c-9c96-796eb5bc714c f5db598d-2bc7-4b41-af84-47bf5309f13a g.chr6:43152524C>G ENST00000252050.4 + 2 560 c.476C>G c.(475-477)aCt>aGt p.T159S CUL9_ENST00000354495.3_Missense_Mutation_p.T159S|CUL9_ENST00000372647.2_Missense_Mutation_p.T159S NM_015089.2 NP_055904.1 Q8IWT3 CUL9_HUMAN cullin 9 159 ubiquitin-dependent protein catabolic process cullin-RING ubiquitin ligase complex|cytoplasm ATP binding|ubiquitin protein ligase binding|zinc ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4) 92 GGGCCCCTCACTGGTGTCTTC 0.622000 19 49 0 0 1 0 0 MAGEC1 9947 broad.mit.edu 37 X 140994457 140994457 + Missense_Mutation SNP A A C TCGA-P3-A6T7-01A-11D-A34J-08 TCGA-P3-A6T7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e651382-e28e-459c-9c96-796eb5bc714c f5db598d-2bc7-4b41-af84-47bf5309f13a g.chrX:140994457A>C ENST00000285879.4 + 4 1553 c.1267A>C c.(1267-1269)Att>Ctt p.I423L MAGEC1_ENST00000406005.2_Intron NM_005462.4 NP_005453.2 O60732 MAGC1_HUMAN melanoma antigen family C, 1 423 protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1) 127 Acute lymphoblastic leukemia(192;6.56e-05) TTTATTGAGTATTTTACAGAG 0.463000 HNSCC(15;0.026) 25 79 0 0 1 0 0 MUC4 4585 broad.mit.edu 37 3 195511286 195511286 + Missense_Mutation SNP C C T TCGA-P3-A6T7-01A-11D-A34J-08 TCGA-P3-A6T7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e651382-e28e-459c-9c96-796eb5bc714c f5db598d-2bc7-4b41-af84-47bf5309f13a g.chr3:195511286C>T ENST00000463781.3 - 2 7624 c.7165G>A c.(7165-7167)Gac>Aac p.D2389N MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.D2389N NM_018406.6 NP_060876.5 Q99102 MUC4_HUMAN mucin 4, cell surface associated 147 cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) GAGGAAGCGTCGGTGACAGGA 0.597000 3 11 0 0 1 0 0 OTOA 146183 broad.mit.edu 37 16 21709177 21709177 + Missense_Mutation SNP C C T rs145435704 byFrequency TCGA-P3-A6T7-01A-11D-A34J-08 TCGA-P3-A6T7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e651382-e28e-459c-9c96-796eb5bc714c f5db598d-2bc7-4b41-af84-47bf5309f13a g.chr16:21709177C>T ENST00000388958.3 + 9 822 c.821C>T c.(820-822)aCg>aTg p.T274M OTOA_ENST00000388956.4_Missense_Mutation_p.T195M|OTOA_ENST00000286149.4_Missense_Mutation_p.T274M NM_144672.3 NP_653273.3 Q7RTW8 OTOAN_HUMAN otoancorin 274 sensory perception of sound anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1) 46 GBM - Glioblastoma multiforme(48;0.0414) GAAGAAATTACGAAAATTAGT 0.353000 19 107 0 0 1 0 0 C9orf64 84267 broad.mit.edu 37 9 86571389 86571389 + Missense_Mutation SNP T T A TCGA-P3-A6T7-01A-11D-A34J-08 TCGA-P3-A6T7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e651382-e28e-459c-9c96-796eb5bc714c f5db598d-2bc7-4b41-af84-47bf5309f13a g.chr9:86571389T>A ENST00000376344.3 - 1 243 c.27A>T c.(25-27)gaA>gaT p.E9D C9orf64_ENST00000314700.1_Intron NM_032307.3 NP_115683.3 Q5T6V5 CI064_HUMAN chromosome 9 open reading frame 64 9 central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1) 15 ATTTAGAGGATTCCCTGGGAT 0.612000 12 44 0 0 1 0 0 CASD1 64921 broad.mit.edu 37 7 94184852 94184852 + Missense_Mutation SNP A A G TCGA-P3-A6T7-01A-11D-A34J-08 TCGA-P3-A6T7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e651382-e28e-459c-9c96-796eb5bc714c f5db598d-2bc7-4b41-af84-47bf5309f13a g.chr7:94184852A>G ENST00000297273.4 + 18 2463 c.2176A>G c.(2176-2178)Atc>Gtc p.I726V NM_022900.4 NP_075051.4 Q96PB1 CASD1_HUMAN CAS1 domain containing 1 726 integral to membrane NS(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(3)|stomach(2)|upper_aerodigestive_tract(1) 31 all_cancers(62;6.71e-10)|all_epithelial(64;5e-09)|Lung NSC(181;0.188)|all_lung(186;0.215) STAD - Stomach adenocarcinoma(171;0.0031) CACAAGGGGTATCTTGGTACT 0.373000 31 87 0 0 1 0 0 GPRIN3 285513 broad.mit.edu 37 4 90170208 90170208 + Missense_Mutation SNP G G C TCGA-P3-A6T7-01A-11D-A34J-08 TCGA-P3-A6T7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e651382-e28e-459c-9c96-796eb5bc714c f5db598d-2bc7-4b41-af84-47bf5309f13a g.chr4:90170208G>C ENST00000333209.3 - 2 1572 c.1054C>G c.(1054-1056)Cat>Gat p.H352D NM_198281.2 NP_938022.2 Q6ZVF9 GRIN3_HUMAN GPRIN family member 3 352 breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|prostate(2)|skin(1) 36 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;5.67e-05) TGTTCAAAATGCTCAGGAGCA 0.587000 17 73 0 0 1 0 0 MAMSTR 284358 broad.mit.edu 37 19 49217224 49217224 + Missense_Mutation SNP G G C TCGA-P3-A6T7-01A-11D-A34J-08 TCGA-P3-A6T7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e651382-e28e-459c-9c96-796eb5bc714c f5db598d-2bc7-4b41-af84-47bf5309f13a g.chr19:49217224G>C ENST00000318083.6 - 8 865 c.802C>G c.(802-804)Ccc>Gcc p.P268A MAMSTR_ENST00000377367.3_Missense_Mutation_p.P100A|MAMSTR_ENST00000594582.1_Missense_Mutation_p.P100A|MAMSTR_ENST00000419611.1_Missense_Mutation_p.P165A|MAMSTR_ENST00000356751.4_Missense_Mutation_p.P165A Q6ZN01 MASTR_HUMAN MEF2 activating motif and SAP domain containing transcriptional regulator 268 Pro-rich.|Transcription activation (By similarity). regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding endometrium(1)|ovary(1) 2 gccggagtgggagttggagcc 0.682000 14 52 0 0 1 0 0 CELSR1 9620 broad.mit.edu 37 22 46859772 46859772 + Missense_Mutation SNP G G A TCGA-P3-A6T7-01A-11D-A34J-08 TCGA-P3-A6T7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e651382-e28e-459c-9c96-796eb5bc714c f5db598d-2bc7-4b41-af84-47bf5309f13a g.chr22:46859772G>A ENST00000262738.3 - 2 4014 c.4015C>T c.(4015-4017)Cgg>Tgg p.R1339W CELSR1_ENST00000395964.1_Missense_Mutation_p.R1339W NM_014246.1 NP_055061.1 Q9NYQ6 CELR1_HUMAN cadherin, EGF LAG seven-pass G-type receptor 1 1339 EGF-like 1; calcium-binding. central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway integral to plasma membrane calcium ion binding|G-protein coupled receptor activity|protein dimerization activity breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3) 95 Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766) UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171) TGGATGGGCCGGAAGAGCACG 0.662000 8 34 0 0 1 0 0 FBXW7 55294 broad.mit.edu 37 4 153271277 153271277 + Splice_Site SNP C C G rs13146842 TCGA-P3-A6T7-01A-11D-A34J-08 TCGA-P3-A6T7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e651382-e28e-459c-9c96-796eb5bc714c f5db598d-2bc7-4b41-af84-47bf5309f13a g.chr4:153271277C>G ENST00000281708.4 - 3 1731 c.e3-1 FBXW7_ENST00000296555.5_Splice_Site|FBXW7_ENST00000603841.1_Splice_Site|FBXW7_ENST00000603548.1_Splice_Site|FBXW7_ENST00000263981.5_Splice_Site NM_033632.3 NP_361014.1 Q969H0 FBXW7_HUMAN F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development nucleolus|nucleoplasm|SCF ubiquitin ligase complex protein binding NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6) 462 all_hematologic(180;0.093) Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067) TTCTTTTCATCTATAAGGTAA 0.289000 """Mis, N, D, F""" """colorectal, endometrial, T-ALL""" 11 29 0 0 1 0 0 BRD9 65980 broad.mit.edu 37 5 881268 881268 + Silent SNP C C G TCGA-P3-A6T7-01A-11D-A34J-08 TCGA-P3-A6T7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e651382-e28e-459c-9c96-796eb5bc714c f5db598d-2bc7-4b41-af84-47bf5309f13a g.chr5:881268C>G ENST00000323510.4 - 6 707 c.708G>C c.(706-708)ggG>ggC p.G236G BRD9_ENST00000435709.2_Intron|BRD9_ENST00000494422.1_Intron|BRD9_ENST00000388890.4_Silent_p.G216G|BRD9_ENST00000483173.1_Silent_p.G279G|BRD9_ENST00000467963.1_Silent_p.G332G Q9H8M2 BRD9_HUMAN bromodomain containing 9 332 nucleic acid binding breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(3) 29 Epithelial(17;0.00202)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00815)|Lung(60;0.185) AGAGCAGGCTCCCGTCCCCGT 0.602000 5 27 0 0 1 0 0 C1QL3 389941 broad.mit.edu 37 10 16563017 16563017 + Silent SNP G G A TCGA-P3-A6T7-01A-11D-A34J-08 TCGA-P3-A6T7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e651382-e28e-459c-9c96-796eb5bc714c f5db598d-2bc7-4b41-af84-47bf5309f13a g.chr10:16563017G>A ENST00000298943.3 - 1 987 c.48C>T c.(46-48)gcC>gcT p.A16A NM_001010908.1 NP_001010908.1 Q5VWW1 C1QL3_HUMAN complement component 1, q subcomponent-like 3 16 collagen breast(1)|endometrium(3)|kidney(1)|lung(4)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 13 CCGACGTGCCGGCCGAGCTCA 0.731000 4 13 0 0 1 0 0 GRK1 6011 broad.mit.edu 37 13 114325920 114325920 + Missense_Mutation SNP C C T TCGA-P3-A6T7-01A-11D-A34J-08 TCGA-P3-A6T7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e651382-e28e-459c-9c96-796eb5bc714c f5db598d-2bc7-4b41-af84-47bf5309f13a g.chr13:114325920C>T ENST00000335678.6 + 3 1166 c.934C>T c.(934-936)Cgg>Tgg p.R312W NM_002929.2 NP_002920.1 Q15835 RK_HUMAN G protein-coupled receptor kinase 1 312 Protein kinase. regulation of G-protein coupled receptor protein signaling pathway|rhodopsin mediated phototransduction|rhodopsin mediated signaling pathway membrane ATP binding|G-protein coupled receptor kinase activity|rhodopsin kinase activity|signal transducer activity ovary(2) 2 Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.00696)|all_epithelial(44;0.00347)|all_lung(25;0.0221)|Breast(118;0.0411)|Lung NSC(25;0.0839) all cancers(43;0.234) GCACCAGAGGCGGATCGTCTA 0.552000 7 20 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179479225 179479225 + Missense_Mutation SNP C C T TCGA-P3-A6T7-01A-11D-A34J-08 TCGA-P3-A6T7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e651382-e28e-459c-9c96-796eb5bc714c f5db598d-2bc7-4b41-af84-47bf5309f13a g.chr2:179479225C>T ENST00000589042.1 - 261 49240 c.49016G>A c.(49015-49017)cGg>cAg p.R16339Q TTN_ENST00000342175.6_Missense_Mutation_p.R7466Q|TTN_ENST00000359218.5_Missense_Mutation_p.R7399Q|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R13771Q|TTN_ENST00000460472.2_Missense_Mutation_p.R7274Q|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R14698Q|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 14698 Ig-like 100. 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) AGCAGTGGCCCGGCCACACAC 0.398000 13 35 0 0 1 0 0 EPHA7 2045 broad.mit.edu 37 6 93969087 93969087 + Missense_Mutation SNP G G A TCGA-P3-A6T7-01A-11D-A34J-08 TCGA-P3-A6T7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e651382-e28e-459c-9c96-796eb5bc714c f5db598d-2bc7-4b41-af84-47bf5309f13a g.chr6:93969087G>A ENST00000369303.4 - 10 2093 c.1909C>T c.(1909-1911)Cgt>Tgt p.R637C NM_004440.3 NP_004431.1 Q15375 EPHA7_HUMAN EPH receptor A7 637 Protein kinase. integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1) 112 all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142) BRCA - Breast invasive adenocarcinoma(108;0.0847) CCAATCACACGCTCAATTTTA 0.428000 27 94 0 0 1 0 0 DDX52 11056 broad.mit.edu 37 17 35986097 35986097 + Missense_Mutation SNP C C T TCGA-P3-A6T7-01A-11D-A34J-08 TCGA-P3-A6T7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e651382-e28e-459c-9c96-796eb5bc714c f5db598d-2bc7-4b41-af84-47bf5309f13a g.chr17:35986097C>T ENST00000349699.2 - 8 1023 c.980G>A c.(979-981)gGc>gAc p.G327D DDX52_ENST00000394367.3_Missense_Mutation_p.G219D NM_007010.3 NP_008941.2 Q9Y2R4 DDX52_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 52 327 Helicase ATP-binding. nucleolus ATP binding|ATP-dependent helicase activity|RNA binding biliary_tract(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(5)|ovary(1)|skin(3) 17 Breast(25;0.00637)|Ovarian(249;0.15) CCCAGTTTTGCCATCTTCAAA 0.423000 4 114 0 0 1 0 0 APLF 200558 broad.mit.edu 37 2 68765185 68765185 + Missense_Mutation SNP C C G TCGA-P3-A6T7-01A-11D-A34J-08 TCGA-P3-A6T7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e651382-e28e-459c-9c96-796eb5bc714c f5db598d-2bc7-4b41-af84-47bf5309f13a g.chr2:68765185C>G ENST00000303795.4 + 7 1157 c.986C>G c.(985-987)tCg>tGg p.S329W APLF_ENST00000471727.1_3'UTR NM_173545.2 NP_775816.1 Q8IW19 APLF_HUMAN aprataxin and PNKP like factor 329 double-strand break repair|single strand break repair cytosol|nucleus 3'-5' exonuclease activity|DNA-(apurinic or apyrimidinic site) lyase activity|endodeoxyribonuclease activity|metal ion binding|nucleotide binding|protein binding autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(9)|ovary(3)|prostate(1)|skin(1) 25 GAAAATTGTTCGAGTGCCCAG 0.428000 17 61 0 0 1 0 0 OR51B5 282763 broad.mit.edu 37 11 5363939 5363939 + Silent SNP G G A TCGA-P3-A6T7-01A-11D-A34J-08 TCGA-P3-A6T7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e651382-e28e-459c-9c96-796eb5bc714c f5db598d-2bc7-4b41-af84-47bf5309f13a g.chr11:5363939G>A ENST00000300773.2 - 1 870 c.816C>T c.(814-816)ctC>ctT p.L272L HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron NM_001005567.2 NP_001005567.2 Q9H339 O51B5_HUMAN olfactory receptor, family 51, subfamily B, member 5 272 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 28 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;3.05e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) AGCTCATAATGAGGTGAACAA 0.393000 14 58 0 0 1 0 0 MIR219A1 407002 broad.mit.edu 37 6 33175619 33175619 + RNA SNP G G A TCGA-P3-A6T7-01A-11D-A34J-08 TCGA-P3-A6T7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e651382-e28e-459c-9c96-796eb5bc714c f5db598d-2bc7-4b41-af84-47bf5309f13a g.chr6:33175619G>A ENST00000362166.1 + 0 8 NR_029633.1 TCCCCGCCCCGGGCCGCGGCT 0.647000 3 10 0 0 1 0 0 METTL22 79091 broad.mit.edu 37 16 8719531 8719531 + Silent SNP G G A TCGA-P3-A6T7-01A-11D-A34J-08 TCGA-P3-A6T7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e651382-e28e-459c-9c96-796eb5bc714c f5db598d-2bc7-4b41-af84-47bf5309f13a g.chr16:8719531G>A ENST00000381920.3 + 2 267 c.9G>A c.(7-9)caG>caA p.Q3Q METTL22_ENST00000561758.1_Silent_p.Q3Q NM_024109.2 NP_077014.2 Q9BUU2 MET22_HUMAN methyltransferase like 22 3 methyltransferase activity large_intestine(5)|lung(4) 9 CCATGGTACAGCTGGCTCCTG 0.572000 14 54 0 0 1 0 0 BAHCC1 57597 broad.mit.edu 37 17 79409647 79409647 + Silent SNP C C T TCGA-P3-A6T7-01A-11D-A34J-08 TCGA-P3-A6T7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e651382-e28e-459c-9c96-796eb5bc714c f5db598d-2bc7-4b41-af84-47bf5309f13a g.chr17:79409647C>T ENST00000307745.7 + 9 1272 c.1272C>T c.(1270-1272)caC>caT p.H424H AGGACCGGCACCTGGAGGGAA 0.711000 6 19 0 0 1 0 0 TMC6 11322 broad.mit.edu 37 17 76120670 76120670 + Missense_Mutation SNP C C T TCGA-P3-A6T7-01A-11D-A34J-08 TCGA-P3-A6T7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e651382-e28e-459c-9c96-796eb5bc714c f5db598d-2bc7-4b41-af84-47bf5309f13a g.chr17:76120670C>T ENST00000590602.1 - 8 985 c.826G>A c.(826-828)Gcc>Acc p.A276T TMC6_ENST00000306591.7_Missense_Mutation_p.A276T|TMC6_ENST00000392467.3_Missense_Mutation_p.A276T|TMC6_ENST00000322914.3_Missense_Mutation_p.A276T|TMC6_ENST00000589553.1_Missense_Mutation_p.A49T|TMC6_ENST00000322933.4_5'UTR Q7Z403 TMC6_HUMAN transmembrane channel-like 6 276 QVAF -> PRVR (in Ref. 6; AAH35648). endoplasmic reticulum membrane|integral to membrane NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1) 14 BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973) GGTGGGAAGGCGACCTGAGGG 0.672000 6 25 0 0 1 0 0 PINK1 65018 broad.mit.edu 37 1 20971160 20971162 + In_Frame_Del DEL GAA GAA - TCGA-P3-A6T7-01A-11D-A34J-08 TCGA-P3-A6T7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e651382-e28e-459c-9c96-796eb5bc714c f5db598d-2bc7-4b41-af84-47bf5309f13a g.chr1:20971160_20971162delGAA ENST00000321556.4 + 4 1048_1050 c.954_956delGAA c.(952-957)atg>at p.MK318del PINK1_ENST00000492302.1_3'UTR|PINK1-AS_ENST00000451424.1_RNA NM_032409.2 NP_115785.1 Q9BXM7 PINK1_HUMAN PTEN induced putative kinase 1 318 Protein kinase. M -> L. cell death|intracellular protein kinase cascade|mitochondrion degradation|peptidyl-serine phosphorylation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of release of cytochrome c from mitochondria|regulation of protein complex assembly|regulation of protein ubiquitination|response to stress cytosol|integral to membrane|mitochondrial outer membrane ATP binding|C3HC4-type RING finger domain binding|calcium-dependent protein kinase activity|magnesium ion binding|protein serine/threonine kinase activity|ubiquitin protein ligase binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(2) 14 all_lung(284;2.72e-05)|Lung NSC(340;2.94e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000147)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.21e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000146)|Kidney(64;0.000182)|GBM - Glioblastoma multiforme(114;0.000497)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00308)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199) TCCTCGTTATGAAGAAGTAAGTG 0.626 11 41 --- --- --- --- LINC00971 440970 broad.mit.edu 37 3 84741480 84741480 + RNA DEL A A - rs140144338 TCGA-P3-A6T7-01A-11D-A34J-08 TCGA-P3-A6T7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e651382-e28e-459c-9c96-796eb5bc714c f5db598d-2bc7-4b41-af84-47bf5309f13a g.chr3:84741480delA ENST00000484892.1 - 0 2354 NR_033860.1 CCTGTCCCAGAAAAAAAAAAA 0.388 4 4 --- --- --- --- LEF1 51176 broad.mit.edu 37 4 108985490 108985500 + Splice_Site DEL ACCTGATGCAG ACCTGATGCAG - TCGA-P3-A6T7-01A-11D-A34J-08 TCGA-P3-A6T7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e651382-e28e-459c-9c96-796eb5bc714c f5db598d-2bc7-4b41-af84-47bf5309f13a g.chr4:108985490_108985500delACCTGATGCAG ENST00000379951.2 - 9 2261_2270 c.1081_splice c.e9+1 p.358_splice LEF1_ENST00000503879.1_5'UTR|LEF1_ENST00000265165.1_Splice_Site_p.386_splice|LEF1_ENST00000510624.1_Splice_Site_p.290_splice|LEF1_ENST00000438313.2_Splice_Site_p.358_splice NM_001130713.2|NM_001130714.2 NP_001124185.1|NP_001124186.1 Q9UJU2 LEF1_HUMAN lymphoid enhancer-binding factor 1 386 canonical Wnt receptor signaling pathway|cell chemotaxis|cellular response to interleukin-4|epithelial to mesenchymal transition|histone H3 acetylation|histone H4 acetylation|negative regulation of apoptosis in bone marrow|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell-cell adhesion|negative regulation of DNA binding|negative regulation of estrogen receptor binding|negative regulation of interleukin-13 production|negative regulation of interleukin-4 production|negative regulation of interleukin-5 production|negative regulation of transcription, DNA-dependent|neutrophil differentiation|osteoblast differentiation|palate development|positive regulation by host of viral transcription|positive regulation of cell cycle process|positive regulation of cell growth|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of cell proliferation in bone marrow|positive regulation of cell-cell adhesion|positive regulation of epithelial to mesenchymal transition|positive regulation of granulocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|T-helper 1 cell differentiation cytoplasm|protein-DNA complex|transcription factor complex armadillo repeat domain binding|beta-catenin binding|C2H2 zinc finger domain binding|caspase inhibitor activity|DNA bending activity|enhancer binding|estrogen receptor activity|estrogen receptor binding|gamma-catenin binding|histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(14)|prostate(1)|urinary_tract(1) 25 OV - Ovarian serous cystadenocarcinoma(123;0.000224) CATGGTGCCTACCTGATGCAGATTCCTGTAG 0.431 8 108 --- --- --- --- SEC24D 9871 broad.mit.edu 37 4 119659453 119659465 + Frame_Shift_Del DEL TAACATGCCAACA TAACATGCCAACA - TCGA-P3-A6T7-01A-11D-A34J-08 TCGA-P3-A6T7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e651382-e28e-459c-9c96-796eb5bc714c f5db598d-2bc7-4b41-af84-47bf5309f13a g.chr4:119659453_119659465delTAACATGCCAACA ENST00000379735.5 - 19 2721_2733 c.2450_2462delTGTTGGCATGTTA c.(2449-2463)acfs p.MLACY817fs SEC24D_ENST00000280551.6_Frame_Shift_Del_p.MLACY816fs|SEC24D_ENST00000505134.1_5'UTR|SEC24D_ENST00000419654.2_Frame_Shift_Del_p.MLACY372fs|SEC24D_ENST00000511481.1_Frame_Shift_Del_p.MLACY447fs|SEC24D_ENST00000429811.2_Frame_Shift_Del_p.MLACY372fs NM_014822.2 NP_055637.2 O94855 SC24D_HUMAN SEC24 family member D 816 COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm zinc ion binding breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 37 ATTCTTCCGGTAACATGCCAACATATGGGCAGT 0.423 19 98 --- --- --- --- GFM2 84340 broad.mit.edu 37 5 74026194 74026195 + Frame_Shift_Ins INS - - T TCGA-P3-A6T7-01A-11D-A34J-08 TCGA-P3-A6T7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e651382-e28e-459c-9c96-796eb5bc714c f5db598d-2bc7-4b41-af84-47bf5309f13a g.chr5:74026194_74026195insT ENST00000296805.3 - 17 2073_2074 c.1616_1617insA c.(1615-1617)catfs p.H539fs GFM2_ENST00000515125.1_Intron|GFM2_ENST00000345239.2_Frame_Shift_Ins_p.H492fs|GFM2_ENST00000509430.1_Frame_Shift_Ins_p.H539fs NM_032380.3 NP_115756.2 Q969S9 RRF2M_HUMAN G elongation factor, mitochondrial 2 539 mitochondrial translation|ribosome disassembly mitochondrion GTP binding|GTPase activity breast(2)|endometrium(2)|large_intestine(4)|lung(5)|prostate(1) 14 all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Breast(144;0.231) OV - Ovarian serous cystadenocarcinoma(47;1.86e-56) TAATCTCTATATGTAACTCCCC 0.386 18 72 --- --- --- --- ZNRD1-AS1 80862 broad.mit.edu 37 6 29977389 29977393 + RNA DEL CTTCT CTTCT - TCGA-P3-A6T7-01A-11D-A34J-08 TCGA-P3-A6T7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e651382-e28e-459c-9c96-796eb5bc714c f5db598d-2bc7-4b41-af84-47bf5309f13a g.chr6:29977389_29977393delCTTCT ENST00000376797.3 - 0 731 ZNRD1-AS1_ENST00000448093.1_RNA|HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA AGAACCCTGACTTCTCTTTCTGCAA 0.488 7 66 --- --- --- --- VWA7 80737 broad.mit.edu 37 6 31736896 31736897 + Frame_Shift_Ins INS - - T TCGA-P3-A6T7-01A-11D-A34J-08 TCGA-P3-A6T7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e651382-e28e-459c-9c96-796eb5bc714c f5db598d-2bc7-4b41-af84-47bf5309f13a g.chr6:31736896_31736897insT ENST00000375686.3 - 10 1638_1639 c.1401_1402insA c.(1399-1404)ccacaafs p.Q468fs VWA7_ENST00000447450.1_Frame_Shift_Ins_p.Q468fs|VWA7_ENST00000375688.4_Frame_Shift_Ins_p.Q468fs|VWA7_ENST00000467576.1_5'UTR NM_025258.2 NP_079534.2 Q9Y334 G7C_HUMAN von Willebrand factor A domain containing 7 468 extracellular region ACTGCTTTGTATGGCTCAAAAC 0.550 13 57 --- --- --- --- MYO6 4646 broad.mit.edu 37 6 76599857 76599858 + Frame_Shift_Ins INS - - A TCGA-P3-A6T7-01A-11D-A34J-08 TCGA-P3-A6T7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e651382-e28e-459c-9c96-796eb5bc714c f5db598d-2bc7-4b41-af84-47bf5309f13a g.chr6:76599857_76599858insA ENST00000369981.3 + 26 3021_3022 c.2742_2743insA c.(2740-2745)caaaaafs p.QK914fs MYO6_ENST00000369985.4_Frame_Shift_Ins_p.QK914fs|MYO6_ENST00000369975.1_Frame_Shift_Ins_p.QK914fs|MYO6_ENST00000369977.3_Frame_Shift_Ins_p.QK914fs Q9UM54 MYO6_HUMAN myosin VI 914 actin filament-based movement|DNA damage response, signal transduction by p53 class mediator|endocytosis|intracellular protein transport|positive regulation of transcription from RNA polymerase II promoter|regulation of secretion|sensory perception of sound|synaptic transmission cell cortex|clathrin coated vesicle membrane|coated pit|cytosol|DNA-directed RNA polymerase II, holoenzyme|filamentous actin|Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|ruffle membrane|unconventional myosin complex actin filament binding|ADP binding|ATP binding|calmodulin binding|minus-end directed microfilament motor activity|protein binding p.K917fs*10(1) breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 all_hematologic(105;0.189) BRCA - Breast invasive adenocarcinoma(397;0.223) GTGCATTACAGAAAAAAAAACA 0.381 10 90 --- --- --- --- RNF146 81847 broad.mit.edu 37 6 127608113 127608116 + Frame_Shift_Del DEL GAGC GAGC - TCGA-P3-A6T7-01A-11D-A34J-08 TCGA-P3-A6T7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e651382-e28e-459c-9c96-796eb5bc714c f5db598d-2bc7-4b41-af84-47bf5309f13a g.chr6:127608113_127608116delGAGC ENST00000368314.1 + 3 779_782 c.355_358delGAGC c.(355-360)gcfs p.ER119fs RNF146_ENST00000356799.2_Frame_Shift_Del_p.ER118fs|RNF146_ENST00000309649.3_Frame_Shift_Del_p.ER118fs NM_001242849.1|NM_001242850.1|NM_001242851.1 NP_001229778.1|NP_001229779.1|NP_001229780.1 Q9NTX7 RN146_HUMAN ring finger protein 146 119 WWE. positive regulation of canonical Wnt receptor signaling pathway|protein autoubiquitination|protein K48-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway cytosol poly-ADP-D-ribose binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1) 10 GBM - Glioblastoma multiforme(226;0.0407)|all cancers(137;0.2) GCAGTACGATGAGCGCACTAGTAG 0.426 21 105 --- --- --- --- DPY19L2P2 349152 broad.mit.edu 37 7 102874213 102874214 + RNA INS - - A TCGA-P3-A6T7-01A-11D-A34J-08 TCGA-P3-A6T7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e651382-e28e-459c-9c96-796eb5bc714c f5db598d-2bc7-4b41-af84-47bf5309f13a g.chr7:102874213_102874214insA ENST00000312132.4 - 0 3031 TTTGGCAGTTTAAAAAAACCCA 0.312 9 11 --- --- --- --- IMPAD1 54928 broad.mit.edu 37 8 57892606 57892625 + Frame_Shift_Del DEL GTGTAGCATCAAGTGGGTCA GTGTAGCATCAAGTGGGTCA - TCGA-P3-A6T7-01A-11D-A34J-08 TCGA-P3-A6T7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e651382-e28e-459c-9c96-796eb5bc714c f5db598d-2bc7-4b41-af84-47bf5309f13a g.chr8:57892606_57892625delGTGTAGCATCAAGTGGGTCA ENST00000262644.4 - 2 777_796 c.519_538delTGACCCACTTGATGCTACAC c.(517-540)atagfs p.IDPLDATQ173fs NM_017813.4 NP_060283.3 Q9NX62 IMPA3_HUMAN inositol monophosphatase domain containing 1 173 Golgi apparatus|integral to membrane inositol-1(or 4)-monophosphatase activity|metal ion binding kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1) 7 all_cancers(86;0.175)|all_lung(136;0.0321)|Lung NSC(129;0.0417)|all_epithelial(80;0.0448) GTATATTCCTGTGTAGCATCAAGTGGGTCAATCCAGACAG 0.391 9 86 --- --- --- --- CHD8 57680 broad.mit.edu 37 14 21861798 21861799 + Frame_Shift_Ins INS - - G TCGA-P3-A6T7-01A-11D-A34J-08 TCGA-P3-A6T7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e651382-e28e-459c-9c96-796eb5bc714c f5db598d-2bc7-4b41-af84-47bf5309f13a g.chr14:21861798_21861799insG ENST00000399982.2 - 31 6219_6220 c.6155_6156insC c.(6154-6156)cctfs p.P2052fs CHD8_ENST00000430710.3_Frame_Shift_Ins_p.P1773fs|CHD8_ENST00000557364.1_Frame_Shift_Ins_p.P2052fs NM_001170629.1 NP_001164100.1 Q9HCK8 CHD8_HUMAN chromodomain helicase DNA binding protein 8 2052 ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent MLL1 complex ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 85 all_cancers(95;0.00121) Epithelial(56;2.55e-06)|all cancers(55;1.73e-05) GBM - Glioblastoma multiforme(265;0.00424) GGGAAACCAGAGGGGTAGTATC 0.530 13 52 --- --- --- --- GMPR2 51292 broad.mit.edu 37 14 24704944 24704945 + Splice_Site DEL TC TC - TCGA-P3-A6T7-01A-11D-A34J-08 TCGA-P3-A6T7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e651382-e28e-459c-9c96-796eb5bc714c f5db598d-2bc7-4b41-af84-47bf5309f13a g.chr14:24704944_24704945delTC ENST00000557854.1 + 3 540_541 c.261_splice c.e3-1 p.F88_splice GMPR2_ENST00000348719.7_Splice_Site_p.F70_splice|GMPR2_ENST00000559104.1_Splice_Site_p.F88_splice|GMPR2_ENST00000399440.2_Splice_Site_p.F70_splice|GMPR2_ENST00000559910.1_Splice_Site_p.F70_splice|GMPR2_ENST00000559836.1_Splice_Site_p.F70_splice|GMPR2_ENST00000420554.2_Splice_Site_p.F88_splice|GMPR2_ENST00000456667.3_Intron|GMPR2_ENST00000355299.4_Splice_Site_p.F70_splice Q9P2T1 GMPR2_HUMAN guanosine monophosphate reductase 2 70 nucleotide metabolic process|purine base metabolic process|purine-containing compound salvage cytosol GMP reductase activity|metal ion binding large_intestine(4)|lung(3)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1) 12 GBM - Glioblastoma multiforme(265;0.0181) TCTCCCCAGTTCTCTCTCTTCA 0.446 25 148 --- --- --- --- RP11-266O8.1 0 broad.mit.edu 37 15 93974510 93974510 + RNA DEL C C - rs57286078 TCGA-P3-A6T7-01A-11D-A34J-08 TCGA-P3-A6T7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e651382-e28e-459c-9c96-796eb5bc714c f5db598d-2bc7-4b41-af84-47bf5309f13a g.chr15:93974510delC ENST00000543286.1 + 0 545 TGGCTGGGTTCtttttttttt 0.433 10 40 --- --- --- --- TP53 7157 broad.mit.edu 37 17 7577568 7577568 + Frame_Shift_Del DEL C C - TCGA-P3-A6T7-01A-11D-A34J-08 TCGA-P3-A6T7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e651382-e28e-459c-9c96-796eb5bc714c f5db598d-2bc7-4b41-af84-47bf5309f13a g.chr17:7577568delC ENST00000420246.2 - 7 845 c.713delG c.(712-714)ttfs p.C238fs TP53_ENST00000269305.4_Frame_Shift_Del_p.C238fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.C238fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.C238fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.C238fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.C238fs NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 238 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity). C -> F (in sporadic cancers; somatic mutation).|C -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|C -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in a familial cancer not matching LFS; germline mutation and 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.C238Y(65)|p.C238F(46)|p.C238S(9)|p.0?(8)|p.?(5)|p.C145F(5)|p.C145Y(5)|p.M237_N239delMCN(4)|p.C238fs*21(1)|p.M237fs*1(1)|p.M144_N146delMCN(1)|p.C238del(1)|p.Y236_M243delYMCNSSCM(1)|p.V225fs*23(1)|p.H233fs*6(1)|p.C238_M246delCNSSCMGGM(1)|p.H233_C242del10(1)|p.N239_C242del(1)|p.C145S(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) GGAACTGTTACACATGTAGTT 0.572 111 """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) 24 46 --- --- --- --- RP11-160E2.17 0 broad.mit.edu 37 17 18988562 18988562 + RNA DEL T T - TCGA-P3-A6T7-01A-11D-A34J-08 TCGA-P3-A6T7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e651382-e28e-459c-9c96-796eb5bc714c f5db598d-2bc7-4b41-af84-47bf5309f13a g.chr17:18988562delT ENST00000442355.2 + 0 272 CTGATGTGTGTTTTTTTTTTT 0.279 3 6 --- --- --- --- ABCA5 23461 broad.mit.edu 37 17 67304439 67304440 + Frame_Shift_Ins INS - - A TCGA-P3-A6T7-01A-11D-A34J-08 TCGA-P3-A6T7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e651382-e28e-459c-9c96-796eb5bc714c f5db598d-2bc7-4b41-af84-47bf5309f13a g.chr17:67304439_67304440insA ENST00000392676.3 - 5 603_604 c.539_540insT c.(538-540)agafs p.R180fs ABCA5_ENST00000392677.2_Frame_Shift_Ins_p.R180fs|ABCA5_ENST00000588877.1_Frame_Shift_Ins_p.R180fs Q8WWZ7 ABCA5_HUMAN ATP-binding cassette, sub-family A (ABC1), member 5 180 cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane ATP binding|ATPase activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 54 Breast(10;3.72e-11) TGGCAGCATCTATGGATGCTTG 0.342 45 217 --- --- --- --- MYO5B 4645 broad.mit.edu 37 18 47479679 47479679 + Frame_Shift_Del DEL T T - TCGA-P3-A6T7-01A-11D-A34J-08 TCGA-P3-A6T7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e651382-e28e-459c-9c96-796eb5bc714c f5db598d-2bc7-4b41-af84-47bf5309f13a g.chr18:47479679delT ENST00000285039.7 - 14 2002 c.1703delA c.(1702-1704)acfs p.N568fs NM_001080467.2 NP_001073936.1 Q9ULV0 MYO5B_HUMAN myosin VB 568 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) CGTGTCTCTGTTTTTCTCCAG 0.512 41 61 --- --- --- --- FTX 100302692 broad.mit.edu 37 X 73506653 73506654 + RNA INS - - A rs149262205 TCGA-P3-A6T7-01A-11D-A34J-08 TCGA-P3-A6T7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e651382-e28e-459c-9c96-796eb5bc714c f5db598d-2bc7-4b41-af84-47bf5309f13a g.chrX:73506653_73506654insA ENST00000429124.1 - 0 174 acctgtcccttaaaaaaaaaaa 0.455 4 2 --- --- --- --- MAGEC1 9947 broad.mit.edu 37 X 140994638 140994640 + In_Frame_Del DEL GCT GCT - rs144357389 byFrequency TCGA-P3-A6T7-01A-11D-A34J-08 TCGA-P3-A6T7-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e651382-e28e-459c-9c96-796eb5bc714c f5db598d-2bc7-4b41-af84-47bf5309f13a g.chrX:140994638_140994640delGCT ENST00000285879.4 + 4 1734_1736 c.1448_1450delGCT c.(1447-1452)acc>a p.SS487del MAGEC1_ENST00000406005.2_Intron NM_005462.4 NP_005453.2 O60732 MAGC1_HUMAN melanoma antigen family C, 1 487 protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1) 127 Acute lymphoblastic leukemia(192;6.56e-05) ATTCCTGTGAGCTCCTCCTCCTC 0.473 HNSCC(15;0.026) 10 100 --- --- --- ---