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 CTC-260E6.6 0 broad.mit.edu 37 19 20369712 20369712 + RNA SNP G G T TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr19:20369712G>T ENST00000593655.1 - 0 199 GTGTTACGTGGGATATAATAT 0.393000 12 55 4.36969e-10 5.98107e-10 1 1 0 PARP15 165631 broad.mit.edu 37 3 122345737 122345737 + Missense_Mutation SNP C C T TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr3:122345737C>T ENST00000464300.2 + 9 1361 c.1295C>T c.(1294-1296)tCa>tTa p.S432L PARP15_ENST00000465304.1_3'UTR|PARP15_ENST00000483793.1_Intron|PARP15_ENST00000310366.4_Missense_Mutation_p.S198L|PARP15_ENST00000493645.1_Intron NM_001113523.1 NP_001106995.1 Q460N3 PAR15_HUMAN poly (ADP-ribose) polymerase family, member 15 410 Macro 2. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus NAD+ ADP-ribosyltransferase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 24 GBM - Glioblastoma multiforme(114;0.0531) GTAGACTTCTCATCACAACAT 0.358000 4 64 0 0 1 0 0 F8 2157 broad.mit.edu 37 X 154157100 154157100 + Silent SNP G G A TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chrX:154157100G>A ENST00000360256.4 - 14 5165 c.4965C>T c.(4963-4965)tgC>tgT p.C1655C NM_000132.3 NP_000123.1 P00451 FA8_HUMAN coagulation factor VIII, procoagulant component 1655 B. acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation extracellular space|plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity|protein binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2) 120 all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055) GGTTTTGAGAGCACAGCCTTT 0.428000 13 69 0 0 1 0 0 NDST4 64579 broad.mit.edu 37 4 115997457 115997457 + Missense_Mutation SNP A A G TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr4:115997457A>G ENST00000264363.2 - 2 1414 c.736T>C c.(736-738)Tcc>Ccc p.S246P NM_022569.1 NP_072091.1 Q9H3R1 NDST4_HUMAN N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4 246 Heparan sulfate N-deacetylase 4. Golgi membrane|integral to membrane [heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1) 81 Ovarian(17;0.156) OV - Ovarian serous cystadenocarcinoma(123;0.000562) CTAGACAAGGATGACAGGGAT 0.423000 14 87 0 0 1 0 0 MYO18A 399687 broad.mit.edu 37 17 27425197 27425197 + Missense_Mutation SNP C C G TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr17:27425197C>G ENST00000527372.1 - 25 4096 c.3916G>C c.(3916-3918)Gag>Cag p.E1306Q MYO18A_ENST00000533112.1_Missense_Mutation_p.E1306Q|MYO18A_ENST00000354329.4_Missense_Mutation_p.E1306Q|MYO18A_ENST00000531253.1_Missense_Mutation_p.E1306Q NM_078471.3 NP_510880.2 Q92614 MY18A_HUMAN myosin XVIIIA 1306 anti-apoptosis|DNA metabolic process ER-Golgi intermediate compartment|myosin complex ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2) 36 Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031) GAGGCGGACTCTCCTGTGTTA 0.607000 16 154 0 0 1 0 0 KCNK6 9424 broad.mit.edu 37 19 38817243 38817243 + Nonsense_Mutation SNP C C G TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr19:38817243C>G ENST00000263372.3 + 2 440 c.333C>G c.(331-333)taC>taG p.Y111* NM_004823.1 NP_004814.1 Q9Y257 KCNK6_HUMAN potassium channel, subfamily K, member 6 111 voltage-gated potassium channel complex inward rectifier potassium channel activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(3) 17 all_cancers(60;5.83e-07) Lung(45;0.00047)|LUSC - Lung squamous cell carcinoma(53;0.000613) Ibutilide(DB00308)|Quinidine(DB00908) GCTATGGGTACACAACGCCAC 0.587000 6 109 0 0 1 0 0 ABCF1 23 broad.mit.edu 37 6 30552007 30552007 + Missense_Mutation SNP C C G TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr6:30552007C>G ENST00000326195.8 + 13 1253 c.1141C>G c.(1141-1143)Ctt>Gtt p.L381V ABCF1_ENST00000376545.3_Missense_Mutation_p.L343V|ABCF1_ENST00000396515.4_Intron NM_001025091.1 NP_001020262.1 Q8NE71 ABCF1_HUMAN ATP-binding cassette, sub-family F (GCN20), member 1 381 ABC transporter 1. inflammatory response|translational initiation nuclear envelope|nucleoplasm|polysomal ribosome ATP binding|ATPase activity|protein binding|ribosome binding|translation activator activity|translation factor activity, nucleic acid binding breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|skin(2) 21 CCAGGCTGTTCTTCGAGCTGA 0.562000 5 47 0 0 1 0 0 GNL3 26354 broad.mit.edu 37 3 52723201 52723201 + Missense_Mutation SNP G G T TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr3:52723201G>T ENST00000394799.2 + 6 694 c.484G>T c.(484-486)Gta>Tta p.V162L GNL3_ENST00000418458.1_Missense_Mutation_p.V174L NM_206825.1 NP_996561.1 Q9BVP2 GNL3_HUMAN guanine nucleotide binding protein-like 3 (nucleolar) 174 regulation of cell proliferation nucleolus GTP binding|protein binding breast(4)|endometrium(3)|large_intestine(3)|lung(2) 12 BRCA - Breast invasive adenocarcinoma(193;6.75e-05)|Kidney(197;0.000611)|KIRC - Kidney renal clear cell carcinoma(197;0.000773)|OV - Ovarian serous cystadenocarcinoma(275;0.048) GAAAAAGCTGGTACTTATATT 0.458000 10 88 0.00829132 0.00913058 1 1 0 DZIP1 22873 broad.mit.edu 37 13 96246271 96246271 + Missense_Mutation SNP G G C TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr13:96246271G>C ENST00000347108.3 - 14 2039 c.1607C>G c.(1606-1608)tCc>tGc p.S536C DZIP1_ENST00000376829.2_Missense_Mutation_p.S536C|DZIP1_ENST00000361156.3_Missense_Mutation_p.S517C|DZIP1_ENST00000361396.2_Missense_Mutation_p.S517C Q86YF9 DZIP1_HUMAN DAZ interacting zinc finger protein 1 536 germ cell development|multicellular organismal development|spermatogenesis cytoplasm|nucleus nucleic acid binding|protein binding|zinc ion binding endometrium(1)|kidney(1)|large_intestine(20)|lung(11)|ovary(2)|pancreas(1)|skin(1)|stomach(1) 38 all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163) BRCA - Breast invasive adenocarcinoma(86;0.141) CTTAGTGAGGGAGGAGTTACT 0.333000 4 50 0 0 1 0 0 SUSD1 64420 broad.mit.edu 37 9 114842402 114842402 + Nonsense_Mutation SNP G G T TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr9:114842402G>T ENST00000374270.3 - 11 1690 c.1518C>A c.(1516-1518)tgC>tgA p.C506* SUSD1_ENST00000374264.2_Nonsense_Mutation_p.C506*|SUSD1_ENST00000374263.3_Nonsense_Mutation_p.C506* NM_022486.3 NP_071931.2 Q6UWL2 SUSD1_HUMAN sushi domain containing 1 506 integral to membrane calcium ion binding SUSD1/ROD1(2) central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 28 TCCATCTCAAGCAGGTTTCAT 0.353000 6 66 8.12818e-05 9.75073e-05 1 1 0 SMO 6608 broad.mit.edu 37 7 128846324 128846324 + Missense_Mutation SNP G G C TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr7:128846324G>C ENST00000249373.3 + 6 1440 c.1160G>C c.(1159-1161)aGt>aCt p.S387T NM_005631.4 NP_005622.1 Q99835 SMO_HUMAN smoothened, frizzled family receptor 387 adenohypophysis development|axon extension involved in axon guidance|canonical Wnt receptor signaling pathway|cardioblast differentiation|central nervous system neuron differentiation|cerebellar cortex morphogenesis|ciliary receptor clustering involved in smoothened signaling pathway|determination of left/right symmetry|dorsal/ventral neural tube patterning|embryonic camera-type eye development|embryonic digestive tract morphogenesis|embryonic neurocranium morphogenesis|embryonic viscerocranium morphogenesis|exocrine pancreas development|facial nerve development|floor plate formation|gonad development|heart morphogenesis|muscle cell fate commitment|negative regulation of apoptosis|neural crest cell migration|neuron fate commitment|neuron projection regeneration|odontogenesis of dentine-containing tooth|osteoblast differentiation|otolith morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of neuroblast proliferation|positive regulation of smoothened signaling pathway|semicircular canal morphogenesis|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation|smoothened signaling pathway involved in ventral spinal cord patterning|spermatogenesis|vasculogenesis cilium|cytoplasm|integral to membrane|neuronal cell body|plasma membrane G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding biliary_tract(1)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(14)|liver(1)|lung(11)|pancreas(2)|prostate(1)|skin(20)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 GACTCTGTGAGTGGGATTTGT 0.592000 Mis skin basal cell 7 105 0 0 1 0 0 DAGLB 221955 broad.mit.edu 37 7 6485700 6485700 + Missense_Mutation SNP C C G rs138752821 TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr7:6485700C>G ENST00000297056.6 - 2 300 c.131G>C c.(130-132)aGa>aCa p.R44T DAGLB_ENST00000428902.2_5'UTR|DAGLB_ENST00000479922.2_5'UTR|DAGLB_ENST00000436575.1_Missense_Mutation_p.R3T|DAGLB_ENST00000421761.2_5'UTR|DAGLB_ENST00000425398.2_Missense_Mutation_p.R44T|KDELR2_ENST00000463747.1_5'UTR NM_139179.3 NP_631918.3 Q8NCG7 DGLB_HUMAN diacylglycerol lipase, beta 44 lipid catabolic process|platelet activation integral to membrane|plasma membrane acylglycerol lipase activity|metal ion binding|triglyceride lipase activity breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|urinary_tract(2) 26 Ovarian(82;0.232) UCEC - Uterine corpus endometrioid carcinoma (126;0.102) CAGCTTTCCTCTGTGCATGAG 0.463000 7 48 0 0 1 0 0 ADRB2 154 broad.mit.edu 37 5 148207139 148207139 + Missense_Mutation SNP G G C TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr5:148207139G>C ENST00000305988.4 + 1 984 c.745G>C c.(745-747)Gag>Cag p.E249Q NM_000024.5 NP_000015 P07550 ADRB2_HUMAN adrenoceptor beta 2, surface 249 activation of transmembrane receptor protein tyrosine kinase activity|desensitization of G-protein coupled receptor protein signaling pathway by arrestin|endosome to lysosome transport|positive regulation of MAPKKK cascade|receptor-mediated endocytosis endosome|integral to plasma membrane|lysosome|receptor complex beta2-adrenergic receptor activity|norepinephrine binding|potassium channel regulator activity|protein homodimerization activity endometrium(1)|kidney(1)|lung(8)|ovary(1)|prostate(3) 14 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) Alprenolol(DB00866)|Arformoterol(DB01274)|Bambuterol(DB01408)|Bisoprolol(DB00612)|Bitolterol(DB00901)|Bretylium(DB01158)|Carteolol(DB00521)|Carvedilol(DB01136)|Clenbuterol(DB01407)|Desipramine(DB01151)|Epinephrine(DB00668)|Fenoterol(DB01288)|Formoterol(DB00983)|Isoproterenol(DB01064)|Labetalol(DB00598)|Levobunolol(DB01210)|Metipranolol(DB01214)|Nadolol(DB01203)|Norepinephrine(DB00368)|Orciprenaline(DB00816)|Oxprenolol(DB01580)|Penbutolol(DB01359)|Pindolol(DB00960)|Pirbuterol(DB01291)|Procaterol(DB01366)|Propranolol(DB00571)|Pseudoephedrine(DB00852)|Ritodrine(DB00867)|Salbutamol(DB01001)|Salmeterol(DB00938)|Terbutaline(DB00871)|Timolol(DB00373) TAGCCAGGTGGAGCAGGATGG 0.547000 7 25 0 0 1 0 0 ASMTL 8623 broad.mit.edu 37 X 1531685 1531685 + Missense_Mutation SNP C C A TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chrX:1531685C>A ENST00000534940.1 - 12 1636 c.1411G>T c.(1411-1413)Gac>Tac p.D471Y ASMTL-AS1_ENST00000420411.2_RNA|ASMTL-AS1_ENST00000602357.1_RNA|ASMTL_ENST00000416733.2_Missense_Mutation_p.D453Y|ASMTL-AS1_ENST00000419737.2_RNA|ASMTL-AS1_ENST00000425740.2_RNA|ASMTL_ENST00000381317.3_Missense_Mutation_p.D529Y|ASMTL_ENST00000381333.4_Missense_Mutation_p.D513Y NM_001173473.1 NP_001166944.1 O95671 ASML_HUMAN acetylserotonin O-methyltransferase-like 529 ASMT-like. melatonin biosynthetic process cytoplasm acetylserotonin O-methyltransferase activity NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(9)|pancreas(1)|soft_tissue(1) 23 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) TCTGGCCAGTCATGCAGGATC 0.542000 4 170 1 1 1 1 0 FLVCR1 28982 broad.mit.edu 37 1 213046044 213046044 + Missense_Mutation SNP C C T TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr1:213046044C>T ENST00000366971.4 + 3 1106 c.908C>T c.(907-909)cCa>cTa p.P303L NM_014053.3 NP_054772.1 Q9Y5Y0 FLVC1_HUMAN feline leukemia virus subgroup C cellular receptor 1 303 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) CCTCGGTATCCACCAAGTCAG 0.323000 3 55 0 0 1 0 0 ISCA2 122961 broad.mit.edu 37 14 74961577 74961577 + Silent SNP G G A TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr14:74961577G>A ENST00000556816.1 + 4 394 c.339G>A c.(337-339)ttG>ttA p.L113L ISCA2_ENST00000298818.8_3'UTR|ISCA2_ENST00000554924.1_3'UTR Q86U28 ISCA2_HUMAN iron-sulfur cluster assembly 2 113 iron-sulfur cluster assembly mitochondrion iron-sulfur cluster binding|metal ion binding|structural molecule activity lung(1) 1 BRCA - Breast invasive adenocarcinoma(234;0.00146) CTGATAGCTTGGCCTTCGTGA 0.493000 4 63 0 0 1 0 0 GRM4 2914 broad.mit.edu 37 6 34100945 34100945 + Missense_Mutation SNP G G A TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr6:34100945G>A ENST00000538487.2 - 2 772 c.329C>T c.(328-330)tCc>tTc p.S110F GRM4_ENST00000374177.3_Intron|GRM4_ENST00000374181.4_Missense_Mutation_p.S110F NM_000841.2|NM_001256811.1 NP_000832.1|NP_001243740.1 Q14833 GRM4_HUMAN glutamate receptor, metabotropic 4 activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade cytoplasmic vesicle|integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 L-Glutamic Acid(DB00142) GGTGTCCCTGGAGCAGGTGTC 0.647000 4 12 0 0 1 0 0 ALK 238 broad.mit.edu 37 2 29430114 29430114 + Silent SNP G G T TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr2:29430114G>T ENST00000389048.3 - 26 4767 c.3861C>A c.(3859-3861)ggC>ggA p.G1287G ALK_ENST00000431873.1_Intron NM_004304.4 NP_004295.2 Q9UM73 ALK_HUMAN anaplastic lymphoma receptor tyrosine kinase 1287 Protein kinase. protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9) NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2) 340 Acute lymphoblastic leukemia(172;0.155) Adenosine triphosphate(DB00171) GCATGGCACAGCCTCCCTTTC 0.502000 """T, Mis, A""" """NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22""" """ALCL, NSCLC, Neuroblastoma""" neuroblastoma Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome 6 29 1 1 1 1 0 MCTP2 55784 broad.mit.edu 37 15 95022218 95022218 + Silent SNP C C G TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr15:95022218C>G ENST00000357742.4 + 22 2592 c.2592C>G c.(2590-2592)ctC>ctG p.L864L MCTP2_ENST00000449432.3_3'UTR|MCTP2_ENST00000451018.3_Silent_p.L809L NM_018349.3 NP_060819.3 Q6DN12 MCTP2_HUMAN multiple C2 domains, transmembrane 2 864 calcium-mediated signaling integral to membrane|membrane fraction calcium ion binding autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2) 49 Lung NSC(78;0.0821)|all_lung(78;0.148) BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593) AATTGAAACTCTGCAGCAGCC 0.542000 14 56 0 0 1 0 0 ABCC2 1244 broad.mit.edu 37 10 101611269 101611269 + Missense_Mutation SNP C C A TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr10:101611269C>A ENST00000370449.4 + 32 4632 c.4519C>A c.(4519-4521)Cta>Ata p.L1507I NM_000392.3 NP_000383 Q92887 MRP2_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 2 1507 ABC transporter 2. apical plasma membrane|integral to plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 67 Colorectal(252;0.234) Epithelial(162;2.77e-10)|all cancers(201;2.47e-08) Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138) GGTAATGGTCCTAGACAACGG 0.413000 5 79 0.000602214 0.000695966 1 1 0 DLGAP4 22839 broad.mit.edu 37 20 35060912 35060912 + Silent SNP G G A TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr20:35060912G>A ENST00000373913.3 + 3 1272 c.792G>A c.(790-792)ctG>ctA p.L264L DLGAP4_ENST00000339266.5_Silent_p.L264L|DLGAP4_ENST00000373907.2_Silent_p.L264L|DLGAP4_ENST00000401952.2_Silent_p.L264L Q9Y2H0 DLGP4_HUMAN discs, large (Drosophila) homolog-associated protein 4 264 cell-cell signaling membrane protein binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 37 Breast(12;0.0192) Myeloproliferative disorder(115;0.00878) CTACTGAGCTGACTGCCCCAC 0.627000 4 27 0 0 1 0 0 MECOM 2122 broad.mit.edu 37 3 168845771 168845771 + Missense_Mutation SNP G G A TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr3:168845771G>A ENST00000464456.1 - 4 1327 c.127C>T c.(127-129)Cca>Tca p.P43S MECOM_ENST00000468789.1_Missense_Mutation_p.P43S|MECOM_ENST00000264674.3_Missense_Mutation_p.P107S|MECOM_ENST00000392736.3_Missense_Mutation_p.P43S|MECOM_ENST00000472280.1_Missense_Mutation_p.P43S|MECOM_ENST00000494292.1_Missense_Mutation_p.P231S|MECOM_ENST00000460814.1_Missense_Mutation_p.P43S|MECOM_ENST00000433243.2_Missense_Mutation_p.P43S NM_001164000.1 NP_001157472.1 Q13465 MDS1_HUMAN MDS1 and EVI1 complex locus 0 sequence-specific DNA binding transcription factor activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4) 85 GTACTGCATGGAAACTTTTGG 0.433000 6 92 0 0 1 0 0 AK7 122481 broad.mit.edu 37 14 96909099 96909099 + Silent SNP A A T TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr14:96909099A>T ENST00000267584.4 + 7 767 c.723A>T c.(721-723)ccA>ccT p.P241P NM_152327.3 NP_689540.2 Q96M32 KAD7_HUMAN adenylate kinase 7 241 cell projection organization cytosol adenylate kinase activity|ATP binding|cytidylate kinase activity breast(2)|cervix(2)|endometrium(3)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 31 all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155) Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228) CTGCATTACCAGTTTTTGGCG 0.428000 8 109 0 0 1 0 0 CLTC 1213 broad.mit.edu 37 17 57759678 57759678 + Missense_Mutation SNP G G T TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr17:57759678G>T ENST00000269122.3 + 22 3763 c.3489G>T c.(3487-3489)aaG>aaT p.K1163N CLTC_ENST00000393043.1_Missense_Mutation_p.K1163N|CLTC_ENST00000579456.1_Splice_Site NM_004859.3 NP_004850.1 Q00610 CLH1_HUMAN clathrin, heavy chain (Hc) 1163 Heavy chain arm.|Proximal segment. axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|mitosis|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport|receptor internalization|transferrin transport clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol|melanosome|spindle protein binding|structural molecule activity CLTC/ALK(44)|CLTC/TFE3(2) breast(2)|large_intestine(6)|ovary(1) 9 all_neural(34;0.0878)|Medulloblastoma(34;0.0922) CCCGTAAGAAGGCTCGAGAGT 0.393000 T """ALK, TFE3""" """ALCL, renal """ 26 57 2.79863e-10 3.84736e-10 1 1 0 DEF8 54849 broad.mit.edu 37 16 90021603 90021603 + Missense_Mutation SNP G G C TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr16:90021603G>C ENST00000563594.1 + 4 1148 c.151G>C c.(151-153)Gag>Cag p.E51Q DEF8_ENST00000567874.1_5'UTR|DEF8_ENST00000268676.7_Missense_Mutation_p.E112Q|DEF8_ENST00000418391.2_Missense_Mutation_p.E51Q|DEF8_ENST00000570182.1_Missense_Mutation_p.E51Q|DEF8_ENST00000563795.1_Missense_Mutation_p.E51Q|DEF8_ENST00000569453.1_Missense_Mutation_p.E51Q NM_001242818.1|NM_001242819.1 NP_001229747.1|NP_001229748.1 Q6ZN54 DEFI8_HUMAN differentially expressed in FDCP 8 homolog (mouse) 112 intracellular signal transduction zinc ion binding central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1) 12 all_cancers(9;7.59e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.0019)|all_hematologic(23;0.0194) BRCA - Breast invasive adenocarcinoma(80;0.0274) GCCCCCTGGGGAGCCGGAATT 0.642000 8 30 0 0 1 0 0 PCDHGB1 56104 broad.mit.edu 37 5 140730095 140730095 + Missense_Mutation SNP G G C TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr5:140730095G>C ENST00000523390.1 + 1 268 c.268G>C c.(268-270)Gag>Cag p.E90Q PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron NM_018922.2|NM_032095.1 NP_061745.1|NP_115266.1 central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1) 16 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GATAGATCGAGAGAAGATTTG 0.448000 OREG0016856 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 45 0 0 1 0 0 FREM2 341640 broad.mit.edu 37 13 39450252 39450252 + Missense_Mutation SNP C C A TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr13:39450252C>A ENST00000280481.7 + 19 8591 c.8375C>A c.(8374-8376)cCa>cAa p.P2792Q NM_207361.4 NP_997244.3 Q5SZK8 FREM2_HUMAN FRAS1 related extracellular matrix protein 2 2792 cell communication|homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2) 148 Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114) all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312) TATAACCAGCCAGTACAGCAG 0.443000 7 97 0.000274275 0.000320496 1 1 0 PRG4 10216 broad.mit.edu 37 1 186276866 186276866 + Missense_Mutation SNP C C T rs147683837 byFrequency TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr1:186276866C>T ENST00000445192.2 + 7 2060 c.2015C>T c.(2014-2016)gCg>gTg p.A672V PRG4_ENST00000367486.3_Missense_Mutation_p.A629V|PRG4_ENST00000367485.4_Missense_Mutation_p.A579V|PRG4_ENST00000367483.4_Missense_Mutation_p.A631V|PRG4_ENST00000367484.3_Intron NM_005807.3 NP_005798.2 Q92954 PRG4_HUMAN proteoglycan 4 672 59 X 8 AA repeats of K-X-P-X-P-T-T-X. cell proliferation|immune response extracellular region polysaccharide binding|protein binding|scavenger receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1) 102 CCCAAGGCAGCGGCTCCCAAC 0.647000 4 32 0 0 1 0 0 PDGFRA 5156 broad.mit.edu 37 4 55161419 55161419 + Missense_Mutation SNP G G A TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr4:55161419G>A ENST00000257290.5 + 23 3581 c.3250G>A c.(3250-3252)Gtg>Atg p.V1084M FIP1L1_ENST00000507166.1_Missense_Mutation_p.V844M NM_006206.4 NP_006197.1 P16234 PGFRA_HUMAN platelet-derived growth factor receptor, alpha polypeptide 1084 Ser-rich. cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye cytoplasm|integral to plasma membrane|nucleus ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1) 967 all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08) GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256) Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268) TTCAGACCTGGTGGAAGACAG 0.512000 """Mis, O, T""" FIP1L1 """GIST, idiopathic hypereosinophilic syndrome, paediatric GBM""" Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis TSP Lung(21;0.16) 10 75 0 0 1 0 0 TFPI2 7980 broad.mit.edu 37 7 93516176 93516176 + Missense_Mutation SNP G G A TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr7:93516176G>A ENST00000222543.5 - 5 976 c.664C>T c.(664-666)Cgc>Tgc p.R222C TFPI2_ENST00000545378.1_Missense_Mutation_p.R111C|GNGT1_ENST00000455502.1_Intron NM_001271003.1|NM_001271004.1|NM_006528.3 NP_001257932.1|NP_001257933.1|NP_006519.1 P48307 TFPI2_HUMAN tissue factor pathway inhibitor 2 222 blood coagulation proteinaceous extracellular matrix extracellular matrix structural constituent|serine-type endopeptidase inhibitor activity p.R222C(1) endometrium(1)|large_intestine(5)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 all_cancers(62;4.45e-10)|all_epithelial(64;2.92e-09)|Lung NSC(181;0.218) STAD - Stomach adenocarcinoma(171;0.000967) CTGGCAAAGCGAAGCTTTGGC 0.328000 7 92 0 0 1 0 0 LEO1 123169 broad.mit.edu 37 15 52258125 52258125 + Missense_Mutation SNP G G A TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr15:52258125G>A ENST00000299601.5 - 2 695 c.635C>T c.(634-636)tCt>tTt p.S212F LEO1_ENST00000315141.5_Missense_Mutation_p.S212F NM_138792.2 NP_620147.1 Q8WVC0 LEO1_HUMAN Leo1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae) 212 Asp-rich. histone H2B ubiquitination|histone monoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent Cdc73/Paf1 complex protein binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|skin(1) 14 all cancers(107;0.00264) TTCATCATCAGAATTAGCCTT 0.423000 16 187 0 0 1 0 0 ROPN1L 83853 broad.mit.edu 37 5 10461436 10461436 + Silent SNP G G A TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr5:10461436G>A ENST00000503804.1 + 5 1079 c.558G>A c.(556-558)gaG>gaA p.E186E ROPN1L_ENST00000510520.1_3'UTR|ROPN1L_ENST00000274134.4_Silent_p.E186E Q96C74 ROP1L_HUMAN rhophilin associated tail protein 1-like 186 ciliary or flagellar motility|signal transduction cytoplasm|motile cilium cAMP-dependent protein kinase regulator activity|protein binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1) 14 CTCCCTTGGAGACGGAATCCT 0.507000 8 73 0 0 1 0 0 OR8D1 283159 broad.mit.edu 37 11 124179880 124179880 + Silent SNP C C T TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr11:124179880C>T ENST00000357821.2 - 1 853 c.783G>A c.(781-783)aaG>aaA p.K261K NM_001002917.1 NP_001002917.1 Q8WZ84 OR8D1_HUMAN olfactory receptor, family 8, subfamily D, member 1 261 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(1)|large_intestine(1)|lung(7)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528) TTGAAGGGGGCTTGAAATACA 0.498000 15 31 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179500885 179500885 + Missense_Mutation SNP T T A TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr2:179500885T>A ENST00000589042.1 - 226 41637 c.41413A>T c.(41413-41415)Aac>Tac p.N13805Y TTN_ENST00000460472.2_Missense_Mutation_p.N4740Y|TTN_ENST00000359218.5_Missense_Mutation_p.N4865Y|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.N4932Y|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.N12164Y|TTN_ENST00000342992.6_Missense_Mutation_p.N11237Y|TTN-AS1_ENST00000592630.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 12164 Ig-like 94. 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) CGCTCTTTGTTTAACTCGCAG 0.493000 6 12 0 0 1 0 0 MARCH1 55016 broad.mit.edu 37 4 164534481 164534481 + Missense_Mutation SNP G G C TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr4:164534481G>C ENST00000503008.1 - 5 1203 c.227C>G c.(226-228)aCt>aGt p.T76S MARCH1_ENST00000339875.5_Missense_Mutation_p.T59S|MARCH1_ENST00000514618.1_Missense_Mutation_p.T76S|MARCH1_ENST00000274056.7_Missense_Mutation_p.T76S NM_001166373.1 NP_001159845.1 Q8TCQ1 MARH1_HUMAN membrane-associated ring finger (C3HC4) 1, E3 ubiquitin protein ligase 76 antigen processing and presentation of peptide antigen via MHC class II|immune response cytoplasmic vesicle membrane|early endosome membrane|Golgi apparatus|integral to membrane|late endosome membrane|lysosomal membrane|plasma membrane MHC protein binding|ubiquitin-protein ligase activity|zinc ion binding endometrium(2)|kidney(3)|large_intestine(3)|lung(20)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 36 all_hematologic(180;0.166) Prostate(90;0.0959)|all_neural(102;0.223) GATGTCCTGAGTGGATGGACA 0.423000 4 32 0 0 1 0 0 KIAA1244 57221 broad.mit.edu 37 6 138584361 138584361 + Missense_Mutation SNP G G A TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr6:138584361G>A ENST00000251691.4 + 12 1907 c.1741G>A c.(1741-1743)Gac>Aac p.D581N NM_020340.4 NP_065073.3 Q5TH69 BIG3_HUMAN KIAA1244 581 regulation of ARF protein signal transduction cytoplasm|integral to membrane ARF guanyl-nucleotide exchange factor activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2) 44 Breast(32;0.135) OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259) CCTGTCAGTAGACTGCAGGAC 0.473000 5 78 0 0 1 0 0 ANO9 338440 broad.mit.edu 37 11 419601 419601 + Missense_Mutation SNP C C T TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr11:419601C>T ENST00000332826.6 - 20 1999 c.1915G>A c.(1915-1917)Gaa>Aaa p.E639K NM_001012302.2 NP_001012302 A1A5B4 ANO9_HUMAN anoctamin 9 639 chloride channel complex chloride channel activity central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|lung(5)|ovary(1)|prostate(4)|skin(4) 21 GAGTTGCCTTCTTTCAGGCAT 0.567000 4 49 0 0 1 0 0 ZNF460 10794 broad.mit.edu 37 19 57795979 57795979 + Missense_Mutation SNP G G A TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr19:57795979G>A ENST00000360338.3 + 2 413 c.91G>A c.(91-93)Gac>Aac p.D31N ZNF460_ENST00000537645.1_5'UTR NM_006635.3 NP_006626.3 Q14592 ZN460_HUMAN zinc finger protein 460 31 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) GGGGCAGTTGGACGTGACCCA 0.542000 17 97 0 0 1 0 0 ADAM18 8749 broad.mit.edu 37 8 39468069 39468069 + Silent SNP T T C TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr8:39468069T>C ENST00000265707.5 + 6 411 c.366T>C c.(364-366)aaT>aaC p.N122N ADAM18_ENST00000379866.1_Silent_p.N122N|ADAM18_ENST00000520772.1_Silent_p.N122N|ADAM18_ENST00000541111.1_Intron NM_014237.2 NP_055052.1 Q9Y3Q7 ADA18_HUMAN ADAM metallopeptidase domain 18 122 cell differentiation|multicellular organismal development|proteolysis|spermatogenesis integral to membrane|membrane fraction metalloendopeptidase activity|zinc ion binding NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3) 71 all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112) LUSC - Lung squamous cell carcinoma(45;0.000199) AGTTTGAAAATATCAGTTATG 0.289000 6 51 0 0 1 0 0 OR56B4 196335 broad.mit.edu 37 11 6129507 6129507 + Missense_Mutation SNP A A T TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr11:6129507A>T ENST00000316529.3 + 1 594 c.499A>T c.(499-501)Ata>Tta p.I167L RP11-290F24.3_ENST00000529961.1_RNA NM_001005181.1 NP_001005181.1 Q8NH76 O56B4_HUMAN olfactory receptor, family 56, subfamily B, member 4 167 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|central_nervous_system(1)|endometrium(1)|lung(10)|skin(6)|urinary_tract(2) 21 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;1.31e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135) CCCAGTGCCTATACTGGCTGC 0.507000 30 58 0 0 1 0 0 LRRC7 57554 broad.mit.edu 37 1 70482166 70482166 + Missense_Mutation SNP C C A TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr1:70482166C>A ENST00000310961.5 + 15 1588 c.1170C>A c.(1168-1170)ttC>ttA p.F390L LRRC7_ENST00000415775.2_5'UTR|LRRC7_ENST00000035383.5_Missense_Mutation_p.F385L|RP11-181B18.1_ENST00000414132.1_RNA Q96NW7 LRRC7_HUMAN leucine rich repeat containing 7 385 centrosome|focal adhesion|nucleolus protein binding breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 162 ATTTACCATTCTCATTTACCA 0.289000 8 77 5.4927e-09 7.45354e-09 1 1 0 NUDT17 200035 broad.mit.edu 37 1 145587764 145587764 + Silent SNP G G A TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr1:145587764G>A ENST00000334513.5 - 5 561 c.550C>T c.(550-552)Ctg>Ttg p.L184L NUDT17_ENST00000444015.2_5'UTR NM_001012758.2 NP_001012776.1 P0C025 NUD17_HUMAN nudix (nucleoside diphosphate linked moiety X)-type motif 17 184 Nudix hydrolase. hydrolase activity|metal ion binding endometrium(3)|large_intestine(1)|lung(2)|skin(1)|urinary_tract(2) 9 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) AGTAGATACAGAACAATGTGA 0.502000 3 11 0 0 1 0 0 C6 729 broad.mit.edu 37 5 41149378 41149378 + Missense_Mutation SNP C C G TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr5:41149378C>G ENST00000263413.3 - 17 2852 c.2588G>C c.(2587-2589)gGc>gCc p.G863A C6_ENST00000337836.5_Missense_Mutation_p.G863A NM_001115131.1 NP_001108603.2 P13671 CO6_HUMAN complement component 6 863 C5b-binding domain.|Complement control factor I module 2. complement activation, classical pathway|cytolysis|innate immune response membrane attack complex protein binding central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2) 96 Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157) GGTGTCATAGCCACAGGATTC 0.433000 16 149 0 0 1 0 0 NMU 10874 broad.mit.edu 37 4 56496622 56496622 + Missense_Mutation SNP G G C TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr4:56496622G>C ENST00000264218.3 - 2 223 c.118C>G c.(118-120)Cca>Gca p.P40A NMU_ENST00000505262.1_Missense_Mutation_p.P40A|NMU_ENST00000507338.1_Missense_Mutation_p.P40A|NMU_ENST00000511469.1_Missense_Mutation_p.P40A|NMU_ENST00000515325.1_5'UTR NM_006681.2 NP_006672.1 P48645 NMU_HUMAN neuromedin U 40 neuropeptide signaling pathway extracellular region lung(3)|ovary(1)|urinary_tract(1) 5 Lung NSC(11;0.00256)|all_epithelial(27;0.075)|Glioma(25;0.08)|all_neural(26;0.101) all_hematologic(202;0.103) LUSC - Lung squamous cell carcinoma(4;6.72e-08)|Lung(4;6.22e-07)|Epithelial(7;0.00559) LUSC - Lung squamous cell carcinoma(721;0.0115) GGTAATATTGGAGCACCTAAA 0.318000 8 68 0 0 1 0 0 BCL11A 53335 broad.mit.edu 37 2 60687732 60687732 + Missense_Mutation SNP C C T TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr2:60687732C>T ENST00000335712.6 - 4 2542 c.2315G>A c.(2314-2316)tGc>tAc p.C772Y BCL11A_ENST00000538214.1_Missense_Mutation_p.C738Y|BCL11A_ENST00000356842.4_Intron|BCL11A_ENST00000358510.4_Missense_Mutation_p.C738Y|BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000359629.5_Intron|BCL11A_ENST00000537768.1_Intron NM_022893.3 NP_075044.2 Q9H165 BC11A_HUMAN B-cell CLL/lymphoma 11A (zinc finger protein) 772 negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 59 LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199) GCACAGCTCGCATTTATAAGG 0.502000 T IGH@ B-CLL 5 93 0 0 1 0 0 PRPF6 24148 broad.mit.edu 37 20 62616366 62616366 + Missense_Mutation SNP G G C TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr20:62616366G>C ENST00000535781.1 + 3 458 c.347G>C c.(346-348)aGa>aCa p.R116T ZNF512B_ENST00000217130.3_Intron|ZNF512B_ENST00000450537.1_Intron O94906 PRP6_HUMAN pre-mRNA processing factor 6 116 assembly of spliceosomal tri-snRNP|positive regulation of transcription from RNA polymerase II promoter|spliceosome assembly catalytic step 2 spliceosome|nucleoplasm|U4/U6 snRNP|U4/U6 x U5 tri-snRNP complex|U5 snRNP androgen receptor binding|ribonucleoprotein binding|transcription coactivator activity breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 all_cancers(38;6.47e-12)|all_epithelial(29;1.26e-13)|Lung NSC(23;9.37e-10)|all_lung(23;3.23e-09) GATGAAAGAAGAAAAGAAAGA 0.428000 7 55 0 0 1 0 0 KAT6A 7994 broad.mit.edu 37 8 41832305 41832305 + Missense_Mutation SNP C C T TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr8:41832305C>T ENST00000396930.3 - 9 1942 c.1399G>A c.(1399-1401)Gag>Aag p.E467K KAT6A_ENST00000265713.2_Missense_Mutation_p.E467K|KAT6A_ENST00000485568.1_Missense_Mutation_p.E467K|KAT6A_ENST00000406337.1_Missense_Mutation_p.E467K NM_001099412.1 NP_001092882.1 Q92794 MYST3_HUMAN K(lysine) acetyltransferase 6A 467 Interaction with RUNX1-1. histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent MOZ/MORF histone acetyltransferase complex|nucleosome DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding AGTCGCTCCTCATTTTCTTGT 0.373000 17 30 0 0 1 0 0 CCDC19 25790 broad.mit.edu 37 1 159847251 159847251 + Splice_Site SNP G G C TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr1:159847251G>C ENST00000426543.2 - 9 1246 c.791C>G c.(790-792)gCt>gGt p.A264G CCDC19_ENST00000476696.1_5'UTR|CCDC19_ENST00000368099.4_Splice_Site_p.A349G Q9UL16 CCD19_HUMAN coiled-coil domain containing 19 349 mitochondrion|soluble fraction endometrium(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2) 26 all_hematologic(112;0.0597) BRCA - Breast invasive adenocarcinoma(70;0.151) TGCTTCTCGAGCCTGCCGGAA 0.532000 8 79 0 0 1 0 0 HECTD3 79654 broad.mit.edu 37 1 45475299 45475299 + Silent SNP G G A TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr1:45475299G>A ENST00000372172.4 - 5 887 c.816C>T c.(814-816)agC>agT p.S272S NM_024602.5 NP_078878.3 Q5T447 HECD3_HUMAN HECT domain containing E3 ubiquitin protein ligase 3 272 DOC. proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process perinuclear region of cytoplasm ubiquitin-protein ligase activity breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|stomach(1) 28 Acute lymphoblastic leukemia(166;0.155) GGGACCCATCGCTCTCCCAGT 0.577000 6 54 0 0 1 0 0 SLC2A10 81031 broad.mit.edu 37 20 45354596 45354596 + Missense_Mutation SNP G G T TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr20:45354596G>T ENST00000359271.2 + 2 1171 c.921G>T c.(919-921)atG>atT p.M307I NM_030777.3 NP_110404.1 O95528 GTR10_HUMAN solute carrier family 2 (facilitated glucose transporter), member 10 307 endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane D-glucose transmembrane transporter activity|sugar:hydrogen symporter activity central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 34 Myeloproliferative disorder(115;0.0122) GTGCCCTCATGGCCCTGTCCG 0.667000 5 45 0.00198382 0.00223934 1 1 0 ANO9 338440 broad.mit.edu 37 11 418925 418925 + Missense_Mutation SNP C C T TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr11:418925C>T ENST00000332826.6 - 21 2083 c.1999G>A c.(1999-2001)Gat>Aat p.D667N NM_001012302.2 NP_001012302 A1A5B4 ANO9_HUMAN anoctamin 9 667 chloride channel complex chloride channel activity central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|lung(5)|ovary(1)|prostate(4)|skin(4) 21 TCAATCCCATCAGGGTCCTGG 0.592000 15 140 0 0 1 0 0 INSRR 3645 broad.mit.edu 37 1 156821165 156821165 + Silent SNP G G C TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr1:156821165G>C ENST00000368195.3 - 5 1542 c.1146C>G c.(1144-1146)ctC>ctG p.L382L NTRK1_ENST00000392302.2_Intron NM_014215.2 NP_055030.1 P14616 INSRR_HUMAN insulin receptor-related receptor 382 protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2) 42 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) GCTTGATTTTGAGGAAGCCAG 0.547000 11 95 0 0 1 0 0 A2ML1 144568 broad.mit.edu 37 12 9004433 9004433 + Missense_Mutation SNP G G C TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr12:9004433G>C ENST00000299698.7 + 19 2468 c.2288G>C c.(2287-2289)tGg>tCg p.W763S A2ML1_ENST00000539547.1_Missense_Mutation_p.W272S NM_001282424.1|NM_144670.4 NP_001269353.1|NP_653271 B3KVV6 B3KVV6_HUMAN alpha-2-macroglobulin-like 1 607 extracellular space endopeptidase inhibitor activity NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1) 80 ATCACCGAGTGGAAGGCGATG 0.542000 6 29 0 0 1 0 0 TOMM70A 9868 broad.mit.edu 37 3 100100544 100100544 + Missense_Mutation SNP C C T TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr3:100100544C>T ENST00000284320.5 - 5 1247 c.799G>A c.(799-801)Gat>Aat p.D267N NM_014820.4 NP_055635.3 O94826 TOM70_HUMAN translocase of outer mitochondrial membrane 70 homolog A (S. cerevisiae) 267 protein targeting to mitochondrion integral to membrane|mitochondrial outer membrane translocase complex protein binding|protein transmembrane transporter activity endometrium(11)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2) 32 GAAATGATATCATCCGTGAAA 0.388000 6 66 0 0 1 0 0 IGSF10 285313 broad.mit.edu 37 3 151167032 151167032 + Missense_Mutation SNP T T C TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr3:151167032T>C ENST00000282466.3 - 4 736 c.737A>G c.(736-738)gAt>gGt p.D246G NM_001178145.1|NM_001178146.1|NM_178822.4 NP_001171616.1|NP_001171617.1|NP_849144.2 Q6WRI0 IGS10_HUMAN immunoglobulin superfamily, member 10 246 LRRCT. cell differentiation|multicellular organismal development|ossification extracellular region NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3) 116 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) GGGACTTCTATCTTTTTTGCA 0.383000 9 67 0 0 1 0 0 KRT14 3861 broad.mit.edu 37 17 39740552 39740552 + Missense_Mutation SNP C C A TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr17:39740552C>A ENST00000167586.6 - 3 808 c.722G>T c.(721-723)aGc>aTc p.S241I NM_000526.4 NP_000517 P02533 K1C14_HUMAN keratin 14 241 Coil 1B.|Rod. epidermis development|hemidesmosome assembly|intermediate filament bundle assembly cytosol|keratin filament|mitochondrion|nucleus protein binding|structural constituent of cytoskeleton central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(3)|lung(7)|ovary(1)|prostate(5)|skin(1)|stomach(1) 25 Breast(137;0.000307) CTCCTTCAGGCTCTCAATCTG 0.542000 16 85 4.7546e-09 6.47982e-09 1 1 0 MRPL23 6150 broad.mit.edu 37 11 1972204 1972204 + Silent SNP C C T TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr11:1972204C>T ENST00000381514.3 + 2 115 c.93C>T c.(91-93)ccC>ccT p.P31P MRPL23_ENST00000381519.1_Silent_p.P31P|MRPL23_ENST00000397298.3_Silent_p.P31P|MRPL23_ENST00000486931.1_3'UTR|MRPL23_ENST00000397294.3_Silent_p.P31P|MRPL23_ENST00000397297.3_Silent_p.P31P Q16540 RM23_HUMAN mitochondrial ribosomal protein L23 31 translation mitochondrial large ribosomal subunit nucleotide binding|RNA binding|structural constituent of ribosome large_intestine(2)|lung(1)|ovary(1) 4 all_epithelial(84;6.24e-05)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.0026)|Lung(200;0.0171)|LUSC - Lung squamous cell carcinoma(625;0.0842) TGGTGCGGCCCGGTGTGGCCC 0.642000 10 6 0 0 1 0 0 LOC150776 150776 broad.mit.edu 37 2 132273177 132273177 + RNA SNP G G T TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr2:132273177G>T ENST00000438378.2 + 0 1237 NR_026922.1 CCACCCAGGAGTCGTTCACGC 0.642000 4 9 0.217242 0.22074 1 1 0 SPRYD3 84926 broad.mit.edu 37 12 53471023 53471023 + Missense_Mutation SNP C C T TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr12:53471023C>T ENST00000301463.4 - 2 132 c.46G>A c.(46-48)Gat>Aat p.D16N SPRYD3_ENST00000547837.1_Missense_Mutation_p.D53N NM_032840.2 NP_116229.1 Q8NCJ5 SPRY3_HUMAN SPRY domain containing 3 16 central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 17 TTGAGGTCATCCATCTTGTTC 0.532000 3 35 0 0 1 0 0 TRIM9 114088 broad.mit.edu 37 14 51561050 51561050 + Missense_Mutation SNP G G T TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr14:51561050G>T ENST00000298355.3 - 1 1729 c.608C>A c.(607-609)cCc>cAc p.P203H TRIM9_ENST00000338969.5_Missense_Mutation_p.P203H|TRIM9_ENST00000360392.4_Missense_Mutation_p.P203H NM_015163.5 NP_055978.4 Q9C026 TRIM9_HUMAN tripartite motif containing 9 203 proteasomal ubiquitin-dependent protein catabolic process cell junction|cytoskeleton|dendrite|synaptic vesicle protein homodimerization activity|ubiquitin-protein ligase activity|zinc ion binding breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 all_epithelial(31;0.00418)|Breast(41;0.148) CTTGGCTAGGGGCCCCCGGGG 0.687000 3 32 0.00024832 0.000293427 1 1 0 MTHFD1L 25902 broad.mit.edu 37 6 151334931 151334931 + Missense_Mutation SNP C C A TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr6:151334931C>A ENST00000367321.3 + 22 2556 c.2282C>A c.(2281-2283)cCt>cAt p.P761H NM_001242767.1|NM_001242768.1|NM_015440.4 NP_001229696.1|NP_001229697.1|NP_056255.2 Q6UB35 C1TM_HUMAN methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like 761 Formyltetrahydrofolate synthetase. folic acid-containing compound biosynthetic process|formate metabolic process|one-carbon metabolic process|tetrahydrofolate metabolic process mitochondrion ATP binding|formate-tetrahydrofolate ligase activity|protein homodimerization activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2) 29 Ovarian(120;0.128) OV - Ovarian serous cystadenocarcinoma(155;8.7e-12) GCTGGTGTTCCTCTTAAGAAA 0.373000 6 94 8.12818e-05 9.75073e-05 1 1 0 CDH4 1002 broad.mit.edu 37 20 60504806 60504806 + Missense_Mutation SNP C C A TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr20:60504806C>A ENST00000360469.5 + 13 2233 c.2145C>A c.(2143-2145)gaC>gaA p.D715E CDH4_ENST00000543233.1_Missense_Mutation_p.D641E NM_001794.3 NP_001785.2 P55283 CADH4_HUMAN cadherin 4, type 1, R-cadherin (retinal) 715 Cadherin 5. adherens junction organization|cell junction assembly calcium ion binding NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 74 BRCA - Breast invasive adenocarcinoma(19;2.36e-08) CATGTGATGACAACGGGGACT 0.587000 6 34 5.9392e-07 7.75908e-07 1 1 0 TCHHL1 126637 broad.mit.edu 37 1 152058614 152058614 + Missense_Mutation SNP C C A rs151016610 TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr1:152058614C>A ENST00000368806.1 - 3 1608 c.1544G>T c.(1543-1545)aGg>aTg p.R515M NM_001008536.1 NP_001008536.1 Q5QJ38 TCHL1_HUMAN trichohyalin-like 1 515 calcium ion binding breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1) 60 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.246) CTTGGTGACCCTAGTATTTTC 0.498000 12 84 1.08611e-07 1.44585e-07 1 1 0 DNAJC15 29103 broad.mit.edu 37 13 43652820 43652820 + Missense_Mutation SNP G G T TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr13:43652820G>T ENST00000379221.2 + 4 731 c.307G>T c.(307-309)Gta>Tta p.V103L DNAJC15_ENST00000474320.1_3'UTR NM_013238.2 NP_037370.2 Q9Y5T4 DJC15_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 15 103 J. integral to membrane heat shock protein binding endometrium(2)|kidney(1)|urinary_tract(1) 4 Lung NSC(96;4.3e-06)|Breast(139;0.00869)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114) GBM - Glioblastoma multiforme(144;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0737) TATTTTAGGTGTAAGGTAGGT 0.348000 6 39 5.68852e-11 7.92375e-11 1 1 0 SORL1 6653 broad.mit.edu 37 11 121391505 121391505 + Nonsense_Mutation SNP G G T TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr11:121391505G>T ENST00000260197.7 + 9 1480 c.1351G>T c.(1351-1353)Gag>Tag p.E451* SORL1_ENST00000532451.1_3'UTR NM_003105.5 NP_003096 Q92673 SORL_HUMAN sortilin-related receptor, L(DLR class) A repeats containing 451 cholesterol metabolic process|lipid transport|receptor-mediated endocytosis integral to plasma membrane|low-density lipoprotein particle low-density lipoprotein particle binding|transmembrane receptor activity NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2) 91 Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113) BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108) GGGAACCTGGGAGTTTCTTCA 0.408000 14 34 4.3838e-07 5.76287e-07 1 1 0 LEPROT 54741 broad.mit.edu 37 1 65897510 65897510 + Missense_Mutation SNP G G A TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr1:65897510G>A ENST00000371065.4 + 4 442 c.304G>A c.(304-306)Gtg>Atg p.V102M LEPR_ENST00000406510.3_Intron|LEPR_ENST00000349533.6_Intron|LEPR_ENST00000371060.3_Intron|LEPR_ENST00000344610.8_Intron|LEPR_ENST00000371059.3_Intron NM_001198681.1|NM_017526.4 NP_001185610.1|NP_059996.1 O15243 OBRG_HUMAN leptin receptor overlapping transcript 102 endosome membrane|Golgi membrane|integral to plasma membrane kidney(1)|large_intestine(1)|lung(5) 7 OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094) CTGCGGCCTTGTGTTGGCAGG 0.398000 3 43 0 0 1 0 0 EMR1 2015 broad.mit.edu 37 19 6926514 6926514 + Silent SNP C C T TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr19:6926514C>T ENST00000312053.4 + 16 2161 c.2124C>T c.(2122-2124)atC>atT p.I708I EMR1_ENST00000450315.3_Silent_p.I531I|EMR1_ENST00000381407.5_Silent_p.I567I|EMR1_ENST00000250572.8_Silent_p.I643I|EMR1_ENST00000381404.4_Silent_p.I656I NM_001974.4 NP_001965.3 Q14246 EMR1_HUMAN egf-like module containing, mucin-like, hormone receptor-like 1 708 cell adhesion|neuropeptide signaling pathway integral to plasma membrane calcium ion binding|G-protein coupled receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8) 62 all_hematologic(4;0.166) CTCGCAACATCAAGATGCTGC 0.507000 16 76 0 0 1 0 0 SLC9A3 6550 broad.mit.edu 37 5 477488 477488 + Silent SNP C C A TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr5:477488C>A ENST00000264938.3 - 11 1728 c.1719G>T c.(1717-1719)acG>acT p.T573T CTD-2228K2.7_ENST00000607286.1_RNA|SLC9A3_ENST00000514375.1_Silent_p.T564T|CTD-2228K2.7_ENST00000607005.1_RNA|CTD-2228K2.7_ENST00000606288.1_RNA NM_004174.2 NP_004165.2 P48764 SL9A3_HUMAN solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 573 cell surface|integral to membrane sodium:hydrogen antiporter activity NS(2)|biliary_tract(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(16)|prostate(3)|skin(2)|urinary_tract(1) 37 Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863) ACGATCGTGGCGTGAAGTCCA 0.652000 5 23 0.0215528 0.0229339 1 1 0 OR5W2 390148 broad.mit.edu 37 11 55681365 55681365 + Missense_Mutation SNP C C T TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr11:55681365C>T ENST00000344514.1 - 1 693 c.694G>A c.(694-696)Gag>Aag p.E232K NM_001001960.1 NP_001001960.1 Q8NH69 OR5W2_HUMAN olfactory receptor, family 5, subfamily W, member 2 232 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(28)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 AACCTCCCCTCAGCAGAGTGT 0.413000 4 39 0 0 1 0 0 NUP155 9631 broad.mit.edu 37 5 37350301 37350301 + Missense_Mutation SNP G G T TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr5:37350301G>T ENST00000231498.3 - 7 993 c.790C>A c.(790-792)Ctt>Att p.L264I NUP155_ENST00000381843.2_Missense_Mutation_p.L205I|NUP155_ENST00000513532.1_Missense_Mutation_p.L264I NM_153485.1 NP_705618.1 O75694 NU155_HUMAN nucleoporin 155kDa 264 carbohydrate metabolic process|glucose transport|mRNA transport|nucleocytoplasmic transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction nuclear membrane|nuclear pore protein binding|structural constituent of nuclear pore|transporter activity endometrium(1)|kidney(16)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 62 all_lung(31;0.000137) COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) GAAGGAACAAGGAAAGAAAGT 0.358000 11 81 1.5739e-10 2.17791e-10 1 1 0 DOCK10 55619 broad.mit.edu 37 2 225659644 225659644 + Missense_Mutation SNP C C G TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr2:225659644C>G ENST00000409592.3 - 45 5201 c.5088G>C c.(5086-5088)tgG>tgC p.W1696C DOCK10_ENST00000258390.7_Missense_Mutation_p.W1702C Q96BY6 DOC10_HUMAN dedicator of cytokinesis 10 1702 DHR-2. GTP binding NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 87 Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14) Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178) TACTTTCCAGCCAGGTCCTGC 0.502000 13 79 0 0 1 0 0 WASF3 10810 broad.mit.edu 37 13 27256894 27256894 + Silent SNP G G T TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr13:27256894G>T ENST00000361042.4 + 9 1350 c.1125G>T c.(1123-1125)acG>acT p.T375T WASF3_ENST00000335327.5_Silent_p.T378T Q9UPY6 WASF3_HUMAN WAS protein family, member 3 378 actin filament polymerization cytoplasm|cytoskeleton actin binding breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|skin(2) 22 Colorectal(5;0.000247) Lung SC(185;0.0156)|Breast(139;0.147) all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155) CCAGCTCCACGCACGCAGCTC 0.701000 3 29 1 1 1 1 0 ANKRD30A 91074 broad.mit.edu 37 10 37490186 37490186 + Missense_Mutation SNP G G C TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr10:37490186G>C ENST00000374660.1 + 37 3090 c.2991G>C c.(2989-2991)caG>caC p.Q997H ANKRD30A_ENST00000602533.1_Missense_Mutation_p.Q878H|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.Q878H Q9BXX3 AN30A_HUMAN ankyrin repeat domain 30A 1023 nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3) 158 CTGTTTCACAGAAGGATGTGT 0.289000 5 57 0 0 1 0 0 SYTL1 84958 broad.mit.edu 37 1 27676943 27676943 + Silent SNP G G A TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr1:27676943G>A ENST00000543823.1 + 9 1434 c.972G>A c.(970-972)cgG>cgA p.R324R SYTL1_ENST00000490170.1_3'UTR|SYTL1_ENST00000318074.5_Silent_p.R312R Q8IYJ3 SYTL1_HUMAN synaptotagmin-like 1 324 C2 1. exocytosis|intracellular protein transport extrinsic to plasma membrane|melanosome|soluble fraction neurexin binding|Rab GTPase binding NS(1)|large_intestine(4)|lung(5)|ovary(1)|urinary_tract(1) 12 Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.0115)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0908)|all_neural(195;0.0966) UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.5e-28)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.0013)|KIRC - Kidney renal clear cell carcinoma(1967;0.00158)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419) TGAAGAAACGGAATCTGAATC 0.597000 3 35 0 0 1 0 0 REG1B 5968 broad.mit.edu 37 2 79313604 79313604 + Silent SNP G G T TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr2:79313604G>T ENST00000305089.3 - 4 290 c.210C>A c.(208-210)ggC>ggA p.G70G NM_006507.3 NP_006498.1 P48304 REG1B_HUMAN regenerating islet-derived 1 beta 70 C-type lectin. cell proliferation extracellular region sugar binding central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(40)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 51 ACACCAGGTTGCCTGAATTCA 0.517000 6 67 8.12818e-05 9.75073e-05 1 1 0 SALL2 6297 broad.mit.edu 37 14 21993304 21993304 + Silent SNP T T C TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr14:21993304T>C ENST00000327430.3 - 2 852 c.558A>G c.(556-558)ctA>ctG p.L186L SALL2_ENST00000450879.2_Intron|SALL2_ENST00000538754.1_Intron|SALL2_ENST00000317492.5_Intron NM_005407.1 NP_005398.1 Q9Y467 SALL2_HUMAN spalt-like transcription factor 2 186 DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(6)|urinary_tract(2) 43 all_cancers(95;0.000662) GBM - Glioblastoma multiforme(265;0.0151) GCAGCACCCGTAGCTCTTCCA 0.622000 5 28 0 0 1 0 0 VCAN 1462 broad.mit.edu 37 5 82833929 82833929 + Missense_Mutation SNP A A G TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr5:82833929A>G ENST00000265077.3 + 8 5672 c.5107A>G c.(5107-5109)Acc>Gcc p.T1703A VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000342785.4_Intron|VCAN_ENST00000512590.2_Intron|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000343200.5_Missense_Mutation_p.T716A NM_004385.4 NP_004376.2 P13611 CSPG2_HUMAN versican 1703 GAG-beta. cell adhesion|cell recognition|glial cell migration extracellular space|proteinaceous extracellular matrix calcium ion binding|hyaluronic acid binding|sugar binding NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 190 Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142) OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29) AGTGGTGCCTACCAAGTTTGT 0.433000 6 63 0 0 1 0 0 ZFX 7543 broad.mit.edu 37 X 24197517 24197517 + Silent SNP C C T TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chrX:24197517C>T ENST00000379177.1 + 6 703 c.276C>T c.(274-276)atC>atT p.I92I ZFX_ENST00000338565.3_Silent_p.I92I|ZFX_ENST00000379188.3_Silent_p.I92I|ZFX_ENST00000459724.1_Intron|ZFX_ENST00000539115.1_Intron|ZFX_ENST00000540034.1_Silent_p.I131I|ZFX_ENST00000304543.5_Silent_p.I92I NM_001178085.1|NM_003410.3 NP_001171556.1|NP_003401.2 P17010 ZFX_HUMAN zinc finger protein, X-linked 92 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|transcription coactivator activity|zinc ion binding cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|prostate(1) 24 AAACGGTCATCATTCCTGAGC 0.413000 7 181 0 0 1 0 0 FMN2 56776 broad.mit.edu 37 1 240370691 240370691 + Missense_Mutation SNP C C A TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr1:240370691C>A ENST00000319653.9 + 5 2809 c.2579C>A c.(2578-2580)cCt>cAt p.P860H NM_020066.4 NP_064450.3 Q9NZ56 FMN2_HUMAN formin 2 860 FH1.|Pro-rich. actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions actin binding NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2) 178 Ovarian(103;0.127) all_cancers(173;0.013) OV - Ovarian serous cystadenocarcinoma(106;0.0106) TCTCCACCACCTCTGCCTTGC 0.567000 10 43 1.08611e-07 1.44585e-07 1 1 0 TDGF1 6997 broad.mit.edu 37 3 46620775 46620775 + Missense_Mutation SNP G G A TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr3:46620775G>A ENST00000296145.5 + 3 875 c.142G>A c.(142-144)Gat>Aat p.D48N TDGF1_ENST00000542931.1_Missense_Mutation_p.D32N|LRRC2_ENST00000296144.3_Intron NM_003212.3 NP_003203.1 P13385 TDGF1_HUMAN teratocarcinoma-derived growth factor 1 48 activation of MAPK activity|anterior/posterior axis specification, embryo|mammary gland development|morphogenesis of a branching structure|negative regulation of apoptosis|peptidyl-serine phosphorylation|positive regulation of cell migration|positive regulation of peptidyl-tyrosine phosphorylation anchored to membrane|cell surface|extrinsic to plasma membrane growth factor activity cervix(2)|endometrium(1)|kidney(1)|lung(4) 8 BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0173)|Kidney(197;0.0204) GGCCTTCAGAGATGACAGCAT 0.532000 4 37 0 0 1 0 0 NECAB1 64168 broad.mit.edu 37 8 91963371 91963371 + Missense_Mutation SNP C C A TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr8:91963371C>A ENST00000417640.2 + 12 1306 c.969C>A c.(967-969)ttC>ttA p.F323L NECAB1_ENST00000522820.1_Missense_Mutation_p.F72L|NECAB1_ENST00000521366.1_Missense_Mutation_p.F72L NM_022351.4 NP_071746.1 Q8N987 NECA1_HUMAN N-terminal EF-hand calcium binding protein 1 323 antibiotic biosynthetic process cytoplasm calcium ion binding|oxidoreductase activity breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7) 12 BRCA - Breast invasive adenocarcinoma(11;0.0499) GCAAGACATTCCAAAGAAGTA 0.363000 3 29 0.150653 0.155077 1 1 0 ZNF699 374879 broad.mit.edu 37 19 9406818 9406818 + Missense_Mutation SNP C C A TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr19:9406818C>A ENST00000591998.1 - 6 1490 c.1262G>T c.(1261-1263)tGt>tTt p.C421F ZNF699_ENST00000308650.3_Missense_Mutation_p.C421F Q32M78 ZN699_HUMAN zinc finger protein 699 421 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 ACATTCCAGACATTCATACGG 0.408000 10 53 4.68919e-08 6.32239e-08 1 1 0 CDC27 996 broad.mit.edu 37 17 45209694 45209694 + Missense_Mutation SNP C C A TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr17:45209694C>A ENST00000066544.3 - 15 2053 c.1960G>T c.(1960-1962)Gca>Tca p.A654S CDC27_ENST00000531206.1_Missense_Mutation_p.A660S|CDC27_ENST00000527547.1_Missense_Mutation_p.A653S|CDC27_ENST00000446365.2_Missense_Mutation_p.A593S NM_001114091.1|NM_001256.3 NP_001107563.1|NP_001247.3 P30260 CDC27_HUMAN cell division cycle 27 654 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule protein phosphatase binding NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2) 90 TGCATTTCTGCAAGGCTGAAT 0.299000 7 53 0.00198382 0.00223934 1 1 0 OR5W2 390148 broad.mit.edu 37 11 55681240 55681240 + Missense_Mutation SNP C C A TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr11:55681240C>A ENST00000344514.1 - 1 818 c.819G>T c.(817-819)atG>atT p.M273I NM_001001960.1 NP_001001960.1 Q8NH69 OR5W2_HUMAN olfactory receptor, family 5, subfamily W, member 2 273 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(28)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 ACAATGAGGTCATTTTATCTT 0.418000 5 29 0.184627 0.188511 1 1 0 FITM1 161247 broad.mit.edu 37 14 24601573 24601573 + Silent SNP G G T TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr14:24601573G>T ENST00000267426.5 + 2 709 c.420G>T c.(418-420)cgG>cgT p.R140R FITM1_ENST00000559294.1_5'UTR NM_203402.2 NP_981947.1 A5D6W6 FITM1_HUMAN fat storage-inducing transmembrane protein 1 140 lipid particle organization|positive regulation of sequestering of triglyceride endoplasmic reticulum membrane|integral to membrane breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1) 11 GAGCCGGCCGGGCCTTCCTGC 0.677000 3 27 2.56e-06 3.28994e-06 1 1 0 OSBP 5007 broad.mit.edu 37 11 59344368 59344368 + Nonsense_Mutation SNP C C A TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr11:59344368C>A ENST00000263847.1 - 13 2670 c.2191G>T c.(2191-2193)Gaa>Taa p.E731* NM_002556.2 NP_002547.1 P22059 OSBP1_HUMAN oxysterol binding protein 731 lipid transport Golgi membrane oxysterol binding NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 26 all_epithelial(135;0.000236) BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207) GCATTTGCTTCATCCCAGCGT 0.507000 26 117 2.79863e-10 3.84736e-10 1 1 0 CRB1 23418 broad.mit.edu 37 1 197390138 197390138 + Missense_Mutation SNP T T C TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr1:197390138T>C ENST00000367400.3 + 6 1315 c.1180T>C c.(1180-1182)Tgc>Cgc p.C394R CRB1_ENST00000367397.1_5'UTR|CRB1_ENST00000367399.2_Missense_Mutation_p.C282R|CRB1_ENST00000476483.1_3'UTR|CRB1_ENST00000538660.1_Missense_Mutation_p.C394R|CRB1_ENST00000544212.1_5'UTR|CRB1_ENST00000535699.1_Missense_Mutation_p.C325R|CRB1_ENST00000543483.1_Missense_Mutation_p.C93R NM_201253.2 NP_957705.1 P82279 CRUM1_HUMAN crumbs homolog 1 (Drosophila) 394 EGF-like 9. cell-cell signaling|establishment or maintenance of cell polarity apical plasma membrane|extracellular region|integral to membrane calcium ion binding|protein binding NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2) 132 AGGAATCCACTGCGAAGAAGA 0.343000 10 84 0 0 1 0 0 MYLK 4638 broad.mit.edu 37 3 123419183 123419183 + Silent SNP G G A rs58176285 TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr3:123419183G>A ENST00000360772.3 - 19 3510 c.3132C>T c.(3130-3132)gcC>gcT p.A1044A MYLK_ENST00000359169.1_Silent_p.A1044A|MYLK_ENST00000475616.1_Silent_p.A1044A|MYLK_ENST00000346322.5_Silent_p.A975A|MYLK_ENST00000360304.3_Silent_p.A1044A Q15746 MYLK_HUMAN myosin light chain kinase 1044 6 X 12 AA approximate tandem repeats. aorta smooth muscle tissue morphogenesis|muscle contraction cytosol actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity p.A1044A(1) NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 113 Lung NSC(201;0.0496) GBM - Glioblastoma multiforme(114;0.0736) TCAGGGTCTCGGCAGGCTTGG 0.552000 9 141 0 0 1 0 0 PCDHA5 56143 broad.mit.edu 37 5 140202603 140202603 + Missense_Mutation SNP G G A rs145876105 TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr5:140202603G>A ENST00000529859.1 + 1 1243 c.1243G>A c.(1243-1245)Gag>Aag p.E415K PCDHA3_ENST00000522353.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000378126.3_Missense_Mutation_p.E415K|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Missense_Mutation_p.E415K|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron NM_018908.2 NP_061731.1 NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3) 60 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCTGGACCGCGAGAGCGTGTC 0.642000 14 120 0 0 1 0 0 KLRF1 51348 broad.mit.edu 37 12 9994985 9994985 + Missense_Mutation SNP G G C TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr12:9994985G>C ENST00000279544.3 + 5 607 c.543G>C c.(541-543)ttG>ttC p.L181F KLRF1_ENST00000537723.1_Intron|KLRF1_ENST00000354855.3_Intron|KLRF1_ENST00000324214.4_Missense_Mutation_p.L131F NM_016523.1 NP_057607 Q9NZS2 KLRF1_HUMAN killer cell lectin-like receptor subfamily F, member 1 181 C-type lectin. cell surface receptor linked signaling pathway integral to plasma membrane MHC class I receptor activity|sugar binding breast(1)|endometrium(2)|large_intestine(4)|lung(6) 13 TTACCTCCTTGAAAATGACAT 0.338000 4 40 0 0 1 0 0 UBR5 51366 broad.mit.edu 37 8 103301731 103301731 + Missense_Mutation SNP G G A TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr8:103301731G>A ENST00000520539.1 - 35 5269 c.4663C>T c.(4663-4665)Cgg>Tgg p.R1555W UBR5_ENST00000220959.4_Missense_Mutation_p.R1555W|UBR5_ENST00000519528.1_Intron|UBR5_ENST00000521922.1_Missense_Mutation_p.R1549W NM_001282873.1|NM_015902.5 NP_001269802.1|NP_056986.2 O95071 UBR5_HUMAN ubiquitin protein ligase E3 component n-recognin 5 1555 cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus nucleus|soluble fraction protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 124 all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05) OV - Ovarian serous cystadenocarcinoma(57;0.000442) TCTCTGCCCCGAACGGGCTGT 0.423000 7 35 0 0 1 0 0 AIMP2 7965 broad.mit.edu 37 7 6054921 6054921 + Nonsense_Mutation SNP C C T TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr7:6054921C>T ENST00000223029.3 + 2 399 c.280C>T c.(280-282)Caa>Taa p.Q94* AIMP2_ENST00000395236.2_Intron|AIMP2_ENST00000400479.2_Nonsense_Mutation_p.Q16* NM_006303.3 NP_006294.2 Q13155 AIMP2_HUMAN aminoacyl tRNA synthetase complex-interacting multifunctional protein 2 94 Interaction with PARK2. apoptosis|cell differentiation|multicellular organismal development|tRNA aminoacylation for protein translation cytosol|nucleus protein binding large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(1) 13 CAACATAATCCAAGCGGATGA 0.433000 9 117 0 0 1 0 0 ZNF253 56242 broad.mit.edu 37 19 19990898 19990898 + Missense_Mutation SNP G G A TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr19:19990898G>A ENST00000589717.1 + 3 261 c.169G>A c.(169-171)Gag>Aag p.E57K ZNF253_ENST00000355650.4_Intron NM_021047.2 NP_066385.2 O75346 ZN253_HUMAN zinc finger protein 253 57 KRAB. negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 TACCTGTCTGGAGCAAGGAAA 0.373000 8 70 0 0 1 0 0 MYLK 4638 broad.mit.edu 37 3 123419159 123419159 + Silent SNP A A G TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr3:123419159A>G ENST00000360772.3 - 19 3534 c.3156T>C c.(3154-3156)aaT>aaC p.N1052N MYLK_ENST00000359169.1_Silent_p.N1052N|MYLK_ENST00000475616.1_Silent_p.N1052N|MYLK_ENST00000346322.5_Silent_p.N983N|MYLK_ENST00000360304.3_Silent_p.N1052N Q15746 MYLK_HUMAN myosin light chain kinase 1052 6 X 12 AA approximate tandem repeats. aorta smooth muscle tissue morphogenesis|muscle contraction cytosol actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 113 Lung NSC(201;0.0496) GBM - Glioblastoma multiforme(114;0.0736) CAGGCTTGGCATTGCCCATGG 0.552000 18 170 0 0 1 0 0 TNS3 64759 broad.mit.edu 37 7 47342587 47342587 + Missense_Mutation SNP C C A TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr7:47342587C>A ENST00000398879.1 - 22 3784 c.3418G>T c.(3418-3420)Gac>Tac p.D1140Y TNS3_ENST00000311160.9_Missense_Mutation_p.D1140Y|TNS3_ENST00000355730.3_Missense_Mutation_p.D900Y Q68CZ2 TENS3_HUMAN tensin 3 1140 focal adhesion protein binding p.D1140N(1) NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 64 TTGGAAAAGTCGGGAAGGACA 0.597000 9 66 3.86212e-05 4.73203e-05 1 1 0 DST 667 broad.mit.edu 37 6 56467765 56467765 + Missense_Mutation SNP G G A TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr6:56467765G>A ENST00000370754.5 - 42 11122 c.11123C>T c.(11122-11124)tCa>tTa p.S3708L DST_ENST00000421834.2_Intron|DST_ENST00000361203.3_Missense_Mutation_p.S3530L|DST_ENST00000370788.2_Intron|DST_ENST00000312431.6_Missense_Mutation_p.S3530L|DST_ENST00000244364.6_Intron|DST_ENST00000370769.4_Missense_Mutation_p.S3530L|DST_ENST00000446842.2_Missense_Mutation_p.S3204L Q03001 DYST_HUMAN dystonin 3530 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) GCTCTTCTCTGATACCCAATC 0.343000 9 35 0 0 1 0 0 SLMO2 51012 broad.mit.edu 37 20 57613582 57613582 + Missense_Mutation SNP C C T TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr20:57613582C>T ENST00000355937.4 - 2 318 c.140G>A c.(139-141)gGa>gAa p.G47E SLMO2_ENST00000371033.5_Missense_Mutation_p.G47E NM_016045.2 NP_057129.2 Q9Y3B1 SLMO2_HUMAN slowmo homolog 2 (Drosophila) 47 PRELI/MSF1. endometrium(1)|lung(2)|skin(2) 5 all_lung(29;0.00711) Colorectal(105;0.109) GTGCAACTTTCCAGAGGGATC 0.468000 18 102 0 0 1 0 0 DDC 1644 broad.mit.edu 37 7 50537776 50537776 + Missense_Mutation SNP G G T TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr7:50537776G>T ENST00000444124.2 - 12 1335 c.1135C>A c.(1135-1137)Cgc>Agc p.R379S DDC_ENST00000357936.5_Missense_Mutation_p.R379S|DDC_ENST00000431062.1_Missense_Mutation_p.R286S|DDC_ENST00000426377.1_Missense_Mutation_p.R301S NM_001082971.1 NP_001076440 P20711 DDC_HUMAN dopa decarboxylase (aromatic L-amino acid decarboxylase) 379 cellular amino acid metabolic process|hormone biosynthetic process|neurotransmitter secretion cytosol aromatic-L-amino-acid decarboxylase activity|protein binding|pyridoxal phosphate binding p.R379S(1) breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1) 40 Glioma(55;0.08)|all_neural(89;0.245) Amantadine(DB00915)|Carbidopa(DB00190)|Flupenthixol(DB00875)|L-Tryptophan(DB00150)|Levodopa(DB01235)|Pimozide(DB01100)|Pyridoxal Phosphate(DB00114)|Remoxipride(DB00409) GTCACCTTGCGGATATAAGCC 0.343000 7 64 0.00448238 0.00501486 1 1 0 GUCA2B 2981 broad.mit.edu 37 1 42621249 42621249 + Silent SNP G G A rs148865510 byFrequency TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr1:42621249G>A ENST00000372581.1 + 3 351 c.321G>A c.(319-321)gcG>gcA p.A107A NM_007102.2 NP_009033.1 Q16661 GUC2B_HUMAN guanylate cyclase activator 2B (uroguanylin) 107 excretion extracellular region calcium sensitive guanylate cyclase activator activity breast(1)|large_intestine(2) 3 Ovarian(52;0.01)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0333) TGAACGTTGCGTGTACCGGCT 0.632000 5 30 0 0 1 0 0 DNAAF3 352909 broad.mit.edu 37 19 55670711 55670711 + Nonsense_Mutation SNP C C A TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr19:55670711C>A ENST00000527223.2 - 12 1547 c.1546G>T c.(1546-1548)Gag>Tag p.E516* DNAAF3_ENST00000524407.2_Nonsense_Mutation_p.E449*|CTD-2587H24.4_ENST00000587871.1_Missense_Mutation_p.R110I|DNAAF3_ENST00000587789.2_5'UTR|CTD-2587H24.5_ENST00000591665.1_RNA|DNAAF3_ENST00000391720.4_Nonsense_Mutation_p.E496*|DNAAF3_ENST00000455045.1_Nonsense_Mutation_p.E395* NM_001256714.1 NP_001243643 Q8N9W5 CS051_HUMAN dynein, axonemal, assembly factor 3 449 GCGAAGGTCTCTGAAGGCCTG 0.632000 8 24 0.0381472 0.0402523 1 1 0 SFXN5 94097 broad.mit.edu 37 2 73298774 73298774 + Missense_Mutation SNP C C A TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr2:73298774C>A ENST00000272433.2 - 1 191 c.61G>T c.(61-63)Gat>Tat p.D21Y SFXN5_ENST00000410065.1_Missense_Mutation_p.D21Y NM_144579.2 NP_653180.1 Q8TD22 SFXN5_HUMAN sideroflexin 5 21 iron ion homeostasis integral to membrane cation transmembrane transporter activity breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(2)|prostate(1) 9 GGAGGTGCATCGCTCGAGGCG 0.642000 5 16 1.23904e-05 1.53602e-05 1 1 0 JUP 3728 broad.mit.edu 37 17 39777119 39777119 + Missense_Mutation SNP C C G TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr17:39777119C>G ENST00000540235.1 - 9 1449 c.1450G>C c.(1450-1452)Gag>Cag p.E484Q KRT17_ENST00000311208.8_Missense_Mutation_p.E325Q P14923 PLAK_HUMAN junction plakoglobin 0 adherens junction organization|atrioventricular valve morphogenesis|cell migration|cell morphogenesis|cellular response to indole-3-methanol|cytoskeletal anchoring at plasma membrane|detection of mechanical stimulus|ectoderm development|endothelial cell-cell adhesion|gastrulation|morphogenesis of embryonic epithelium|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway involved in heart development|nervous system development|oocyte development|positive regulation of protein import into nucleus|positive regulation of sequence-specific DNA binding transcription factor activity|skin development actin cytoskeleton|Axin-APC-beta-catenin-GSK3B complex|basolateral plasma membrane|catenin complex|desmosome|fascia adherens|gamma-catenin-TCF7L2 complex|internal side of plasma membrane|nucleus|protein-DNA complex|Z disc|zonula adherens alpha-catenin binding|cadherin binding|protein homodimerization activity|protein kinase binding|protein phosphatase binding|RPTP-like protein binding|specific RNA polymerase II transcription factor activity|transcription coactivator activity breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1) 23 Breast(137;0.000162) BRCA - Breast invasive adenocarcinoma(4;0.233) BRCA - Breast invasive adenocarcinoma(366;0.15) AGGTTGCCCTCCAGGGATGCT 0.627000 5 48 0 0 1 0 0 BBS9 27241 broad.mit.edu 37 7 33313464 33313464 + Missense_Mutation SNP G G C TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr7:33313464G>C ENST00000242067.6 + 9 1433 c.912G>C c.(910-912)ttG>ttC p.L304F BBS9_ENST00000396127.2_Missense_Mutation_p.L304F|BBS9_ENST00000355070.2_Missense_Mutation_p.L304F|BBS9_ENST00000354265.4_Missense_Mutation_p.L304F|BBS9_ENST00000350941.3_Missense_Mutation_p.L304F|BBS9_ENST00000425508.2_Missense_Mutation_p.L259F NM_198428.2 NP_940820.1 Q3SYG4 PTHB1_HUMAN Bardet-Biedl syndrome 9 304 fat cell differentiation|response to stimulus|visual perception BBSome|cilium membrane|microtubule organizing center|nucleus protein binding BBS9/PKD1L1(2) NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 50 GBM - Glioblastoma multiforme(11;0.0894) TAAATACTTTGATTGGAAATC 0.358000 Bardet-Biedl syndrome 3 65 0 0 1 0 0 EP300 2033 broad.mit.edu 37 22 41536229 41536229 + Nonsense_Mutation SNP G G T TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr22:41536229G>T ENST00000263253.7 + 9 3065 c.1846G>T c.(1846-1848)Gaa>Taa p.E616* NM_001429.3 NP_001420.2 Q09472 EP300_HUMAN E1A binding protein p300 616 KIX. apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia centrosome|histone acetyltransferase complex androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16) 171 TCGGAAAGTTGAAGGGGACAT 0.398000 """T, N, F, Mis, O""" """MLL, RUNXBP2""" """colorectal, breast, pancreatic, AML, ALL, DLBCL""" Rubinstein-Taybi syndrome 16 109 7.07596e-05 8.5864e-05 1 1 0 AHNAK 79026 broad.mit.edu 37 11 62289953 62289953 + Missense_Mutation SNP C C A TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr11:62289953C>A ENST00000378024.4 - 5 12210 c.11936G>T c.(11935-11937)gGt>gTt p.G3979V AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron NM_001620.1 NP_001611.1 Q09666 AHNK_HUMAN AHNAK nucleoprotein 3979 nervous system development nucleus protein binding NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 268 Melanoma(852;0.155) CGCATCTGGACCTTCAATATT 0.488000 99 217 1.52783e-54 2.1762e-54 1 1 0 KCNV1 27012 broad.mit.edu 37 8 110980338 110980338 + Silent SNP C C A TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr8:110980338C>A ENST00000524391.1 - 4 2514 c.1482G>T c.(1480-1482)ggG>ggT p.G494G KCNV1_ENST00000297404.1_Silent_p.G494G Q6PIU1 KCNV1_HUMAN potassium channel, subfamily V, member 1 494 voltage-gated potassium channel complex ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 all_neural(195;0.219) OV - Ovarian serous cystadenocarcinoma(57;5.35e-13) AATCATCTCCCCCGCTGCTCC 0.373000 31 37 4.31634e-10 5.92089e-10 1 1 0 PFKFB1 5207 broad.mit.edu 37 X 54975594 54975594 + Missense_Mutation SNP T T C TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chrX:54975594T>C ENST00000375006.3 - 9 977 c.907A>G c.(907-909)Acc>Gcc p.T303A PFKFB1_ENST00000374992.2_Intron|PFKFB1_ENST00000545676.1_Missense_Mutation_p.T238A NM_002625.2 NP_002616.2 P16118 F261_HUMAN 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 303 Fructose-2,6-bisphosphatase. energy reserve metabolic process|fructose 2,6-bisphosphate metabolic process|gluconeogenesis|glycolysis|intracellular protein kinase cascade 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 complex 6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(11)|ovary(1) 24 ATGTGACTGGTCCACACCTTC 0.562000 9 20 0 0 1 0 0 ARHGAP39 80728 broad.mit.edu 37 8 145806260 145806260 + Missense_Mutation SNP G G T TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr8:145806260G>T ENST00000276826.5 - 2 683 c.482C>A c.(481-483)gCg>gAg p.A161E ARHGAP39_ENST00000377307.2_Missense_Mutation_p.A161E|ARHGAP39_ENST00000540274.1_Missense_Mutation_p.A161E Q9C0H5 RHG39_HUMAN Rho GTPase activating protein 39 161 axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytoskeleton|cytosol|nucleus GTPase activator activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 22 TGTCCCAAACGCCGCGGGCCG 0.706000 3 14 0.004672 0.00517199 1 1 0 EPS8L3 79574 broad.mit.edu 37 1 110301186 110301186 + Silent SNP C C T TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr1:110301186C>T ENST00000369805.3 - 7 793 c.564G>A c.(562-564)ggG>ggA p.G188G EPS8L3_ENST00000361852.4_Silent_p.G187G|EPS8L3_ENST00000494151.1_5'UTR|EPS8L3_ENST00000361965.4_Silent_p.G187G|RP4-735C1.4_ENST00000431955.1_RNA NM_139053.2 NP_620641.1 Q8TE67 ES8L3_HUMAN EPS8-like 3 187 Pro-rich. cytoplasm protein binding breast(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|upper_aerodigestive_tract(1) 32 all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269) Lung(183;0.0245)|Colorectal(144;0.0365)|all cancers(265;0.103)|Epithelial(280;0.109)|LUSC - Lung squamous cell carcinoma(189;0.137)|COAD - Colon adenocarcinoma(174;0.141) CTGGAGGGATCCCCGGCTCCA 0.592000 6 48 0 0 1 0 0 XPO6 23214 broad.mit.edu 37 16 28187234 28187234 + Missense_Mutation SNP A A T TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr16:28187234A>T ENST00000304658.5 - 4 890 c.390T>A c.(388-390)ttT>ttA p.F130L XPO6_ENST00000565698.1_Missense_Mutation_p.F116L NM_015171.3 NP_055986.1 Q96QU8 XPO6_HUMAN exportin 6 130 protein export from nucleus protein binding|protein transporter activity breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 25 AAATGTTAGTAAAAAAGTCGT 0.363000 3 40 0 0 1 0 0 GBP4 115361 broad.mit.edu 37 1 89657165 89657165 + Missense_Mutation SNP G G A TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr1:89657165G>A ENST00000355754.6 - 6 792 c.695C>T c.(694-696)tCa>tTa p.S232L NM_052941.4 NP_443173.2 Q96PP9 GBP4_HUMAN guanylate binding protein 4 232 cytoplasm GTP binding|GTPase activity central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(19)|skin(1)|stomach(2)|urinary_tract(1) 33 all cancers(265;0.00723)|Epithelial(280;0.0291) AGGCATGTTTGAATTTTGAAT 0.433000 4 48 0 0 1 0 0 OR52M1 119772 broad.mit.edu 37 11 4566768 4566768 + Silent SNP C C A rs147386851 byFrequency TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr11:4566768C>A ENST00000360213.1 + 1 348 c.348C>A c.(346-348)atC>atA p.I116I NM_001004137.1 NP_001004137.1 Q8NGK5 O52M1_HUMAN olfactory receptor, family 52, subfamily M, member 1 116 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(2)|lung(9)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 18 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19) AGTCAGGCATCTTCCTTGCCA 0.517000 6 82 8.12818e-05 9.75073e-05 1 1 0 CCZ1B 221960 broad.mit.edu 37 7 6844602 6844602 + Missense_Mutation SNP C C A TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr7:6844602C>A ENST00000316731.8 - 12 1645 c.1073G>T c.(1072-1074)tGt>tTt p.C358F CCZ1B_ENST00000538180.1_Missense_Mutation_p.C215F NM_198097.3 NP_932765.1 P86790 CCZ1L_HUMAN CCZ1 vacuolar protein trafficking and biogenesis associated homolog B (S. cerevisiae) 358 lysosomal membrane AAACTGTTCACAGATGTCAGA 0.478000 7 81 0.0293803 0.0312104 1 1 0 KPNA5 3841 broad.mit.edu 37 6 117023265 117023265 + Silent SNP G G A TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr6:117023265G>A ENST00000368564.1 + 6 667 c.519G>A c.(517-519)ccG>ccA p.P173P KPNA5_ENST00000356348.1_Silent_p.P173P O15131 IMA5_HUMAN karyopherin alpha 5 (importin alpha 6) 170 NLS binding site (major) (By similarity). NLS-bearing substrate import into nucleus cytoplasm|nuclear pore protein binding|protein transporter activity p.P173P(1) breast(6)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234) GBM - Glioblastoma multiforme(226;0.0298)|all cancers(137;0.0461)|OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.212) GGGCTGTTCCGATTTTTATCA 0.348000 4 69 0 0 1 0 0 TNFAIP8L1 126282 broad.mit.edu 37 19 4652055 4652055 + Missense_Mutation SNP G G T TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr19:4652055G>T ENST00000536716.1 + 2 320 c.174G>T c.(172-174)aaG>aaT p.K58N TNFAIP8L1_ENST00000327473.4_Missense_Mutation_p.K58N NM_001167942.1 NP_001161414.1 Q8WVP5 TP8L1_HUMAN tumor necrosis factor, alpha-induced protein 8-like 1 58 endometrium(1) 1 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18) AGGCCCAGAAGATGCTCAAGA 0.667000 4 10 0.150653 0.155077 1 1 0 HOXA1 3198 broad.mit.edu 37 7 27135443 27135443 + Missense_Mutation SNP G G C TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr7:27135443G>C ENST00000343060.4 - 1 150 c.89C>G c.(88-90)tCg>tGg p.S30W HOTAIRM1_ENST00000495032.1_RNA|HOXA1_ENST00000355633.5_Missense_Mutation_p.S30W NM_005522.4 NP_005513 P49639 HXA1_HUMAN homeobox A1 30 nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 CCTATGGTCCGAGGGGTAGGC 0.592000 OREG0003750 type=REGULATORY REGION|Gene=BC031342|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 14 62 0 0 1 0 0 MAP1B 4131 broad.mit.edu 37 5 71495684 71495684 + Missense_Mutation SNP G G C TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr5:71495684G>C ENST00000296755.7 + 5 6800 c.6502G>C c.(6502-6504)Gag>Cag p.E2168Q NM_005909.3 NP_005900.2 P46821 MAP1B_HUMAN microtubule-associated protein 1B 2168 microtubule|microtubule associated complex structural molecule activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 104 Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;7.99e-54) GGAGACTGAAGAGTGCCCCTC 0.567000 5 41 0 0 1 0 0 KIF24 347240 broad.mit.edu 37 9 34310980 34310980 + Nonsense_Mutation SNP G G C TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr9:34310980G>C ENST00000379166.2 - 2 484 c.365C>G c.(364-366)tCa>tGa p.S122* KIF24_ENST00000379174.3_Nonsense_Mutation_p.S122*|KIF24_ENST00000345050.2_Nonsense_Mutation_p.S122*|KIF24_ENST00000402558.2_Nonsense_Mutation_p.S122* NM_194313.2 NP_919289.2 Q5T7B8 KIF24_HUMAN kinesin family member 24 122 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(13)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 32 LUSC - Lung squamous cell carcinoma(29;0.0107) AGAGAAATCTGATAAACTGCA 0.398000 3 99 0 0 1 0 0 TLR4 7099 broad.mit.edu 37 9 120475511 120475511 + Nonsense_Mutation SNP G G T TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr9:120475511G>T ENST00000355622.6 + 3 1206 c.1105G>T c.(1105-1107)Gaa>Taa p.E369* TLR4_ENST00000472304.1_3'UTR|TLR4_ENST00000394487.4_Nonsense_Mutation_p.E329* NM_138554.4|NM_138557.2 NP_612564.1|NP_612567.1 O00206 TLR4_HUMAN toll-like receptor 4 369 activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm lipopolysaccharide receptor activity|transmembrane receptor activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1) 103 TGCTTTTTCAGAAGTTGATCT 0.378000 8 60 0.000274275 0.000320496 1 1 0 MTMR1 8776 broad.mit.edu 37 X 149895711 149895711 + Missense_Mutation SNP C C A TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chrX:149895711C>A ENST00000445323.2 + 5 498 c.377C>A c.(376-378)cCa>cAa p.P126Q MTMR1_ENST00000370390.3_Missense_Mutation_p.P118Q|MTMR1_ENST00000451863.2_Missense_Mutation_p.P118Q|MTMR1_ENST00000541925.1_Missense_Mutation_p.P24Q|MTMR1_ENST00000538506.1_Missense_Mutation_p.P5Q|MTMR1_ENST00000542156.1_Missense_Mutation_p.P118Q|MTMR1_ENST00000544228.1_Missense_Mutation_p.P118Q Q13613 MTMR1_HUMAN myotubularin related protein 1 118 GRAM. plasma membrane protein tyrosine phosphatase activity central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(5)|ovary(2)|prostate(1) 23 Acute lymphoblastic leukemia(192;6.56e-05) TATATCTGCCCATTTATGGGA 0.383000 8 54 1.06961e-07 1.43601e-07 1 1 0 CDH18 1016 broad.mit.edu 37 5 19839054 19839054 + Silent SNP C C T TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr5:19839054C>T ENST00000507958.1 - 5 1032 c.42G>A c.(40-42)gtG>gtA p.V14V CDH18_ENST00000382275.1_Silent_p.V14V|CDH18_ENST00000511273.1_Silent_p.V14V|CDH18_ENST00000274170.4_Silent_p.V14V|CDH18_ENST00000502796.1_Silent_p.V14V|CDH18_ENST00000506372.1_Silent_p.V14V Q13634 CAD18_HUMAN cadherin 18, type 2 14 adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1) 138 Lung NSC(1;0.00734)|all_lung(1;0.0197) AACAGAGACACACTAGGACTG 0.428000 5 61 0 0 1 0 0 LRCH1 23143 broad.mit.edu 37 13 47303042 47303042 + Missense_Mutation SNP G G C TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr13:47303042G>C ENST00000311191.6 + 17 2054 c.1825G>C c.(1825-1827)Ggt>Cgt p.G609R LRCH1_ENST00000389798.3_Missense_Mutation_p.G609R|LRCH1_ENST00000389797.3_Missense_Mutation_p.G644R NM_001164213.1 NP_001157685 Q9Y2L9 LRCH1_HUMAN leucine-rich repeats and calponin homology (CH) domain containing 1 609 CH. breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 26 all_lung(13;5.61e-07)|Lung NSC(96;0.000117)|Breast(56;0.000141)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;0.000123) CCTCATGGATGGTGTCGTCCT 0.517000 6 34 0 0 1 0 0 FNDC3B 64778 broad.mit.edu 37 3 172046853 172046853 + Missense_Mutation SNP G G A TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr3:172046853G>A ENST00000336824.4 + 12 1465 c.1366G>A c.(1366-1368)Gac>Aac p.D456N FNDC3B_ENST00000415807.2_Missense_Mutation_p.D456N|FNDC3B_ENST00000416957.1_Missense_Mutation_p.D456N NM_001135095.1 NP_001128567.1 Q53EP0 FND3B_HUMAN fibronectin type III domain containing 3B 456 Fibronectin type-III 2. endoplasmic reticulum|integral to membrane breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1) 69 all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165) LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14) GBM - Glioblastoma multiforme(1;0.0494) CGCTCGAAACGACATTGGTAC 0.512000 27 100 0 0 1 0 0 SPATA31D1 389763 broad.mit.edu 37 9 84608242 84608242 + Missense_Mutation SNP C C G TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr9:84608242C>G ENST00000344803.2 + 4 2904 c.2857C>G c.(2857-2859)Cag>Gag p.Q953E NM_001001670.2 NP_001001670.1 SPATA31 subfamily D, member 1 CTTCATCTCTCAGGGAGATTC 0.483000 7 60 0 0 1 0 0 EBAG9 9166 broad.mit.edu 37 8 110575659 110575659 + Silent SNP C C A TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr8:110575659C>A ENST00000531677.1 + 6 555 c.555C>A c.(553-555)ctC>ctA p.L185L EBAG9_ENST00000337573.5_Intron|EBAG9_ENST00000395785.2_Intron O00559 RCAS1_HUMAN estrogen receptor binding site associated, antigen, 9 174 apoptosis|regulation of cell growth focal adhesion|Golgi membrane|integral to membrane|soluble fraction apoptotic protease activator activity cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(2) 10 OV - Ovarian serous cystadenocarcinoma(57;1.39e-14) TCTGCTCTCTCCTGTTTCATC 0.453000 109 149 2.68655e-49 3.81804e-49 1 1 0 BIN1 274 broad.mit.edu 37 2 127834239 127834239 + Missense_Mutation SNP T T G TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr2:127834239T>G ENST00000316724.5 - 2 539 c.128A>C c.(127-129)cAg>cCg p.Q43P BIN1_ENST00000348750.4_Missense_Mutation_p.Q43P|BIN1_ENST00000352848.3_Missense_Mutation_p.Q43P|BIN1_ENST00000409400.1_Missense_Mutation_p.Q43P|BIN1_ENST00000259238.4_Missense_Mutation_p.Q43P|BIN1_ENST00000393040.3_Missense_Mutation_p.Q43P|BIN1_ENST00000393041.3_Missense_Mutation_p.Q43P|BIN1_ENST00000376113.2_Missense_Mutation_p.Q43P|BIN1_ENST00000357970.3_Missense_Mutation_p.Q43P|BIN1_ENST00000351659.3_Missense_Mutation_p.Q43P|BIN1_ENST00000346226.3_Missense_Mutation_p.Q43P NM_139343.2 NP_647593.1 O00499 BIN1_HUMAN bridging integrator 1 43 BAR.|Interaction with BIN2. cell proliferation|endocytosis|interspecies interaction between organisms|multicellular organismal development actin cytoskeleton|nucleus NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(3)|skin(3) 24 Colorectal(110;0.0831) BRCA - Breast invasive adenocarcinoma(221;0.073) CTGCTCAAACTGCTCATCCTT 0.522000 15 67 0 0 1 0 0 UMOD 7369 broad.mit.edu 37 16 20359621 20359621 + Silent SNP C C T TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr16:20359621C>T ENST00000396134.2 - 5 1119 c.996G>A c.(994-996)gaG>gaA p.E332E UMOD_ENST00000424589.1_Silent_p.E332E|UMOD_ENST00000396138.4_Silent_p.E348E|UMOD_ENST00000396142.2_Silent_p.E299E|UMOD_ENST00000570689.1_Silent_p.E299E|UMOD_ENST00000302509.4_Silent_p.E299E NM_001278614.1 NP_001265543.1 P07911 UROM_HUMAN uromodulin 299 cellular defense response|negative regulation of cell proliferation anchored to membrane|apical plasma membrane|basolateral plasma membrane|cilium membrane|extrinsic to membrane|primary cilium|spindle pole calcium ion binding endometrium(5)|kidney(1)|large_intestine(7)|lung(20)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 41 CTATACTGCACTCCTCACACG 0.572000 19 94 0 0 1 0 0 BCL9L 283149 broad.mit.edu 37 11 118771569 118771569 + Missense_Mutation SNP C C T TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr11:118771569C>T ENST00000334801.3 - 6 3847 c.2883G>A c.(2881-2883)atG>atA p.M961I BCL9L_ENST00000526143.1_5'UTR NM_182557.2 NP_872363.1 Q86UU0 BCL9L_HUMAN B-cell CLL/lymphoma 9-like 961 Pro-rich. negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent transcription coactivator activity NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2) 56 all_hematologic(175;0.0839) Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.66e-05) GCAAGGGCACCATCTGTGAGG 0.652000 3 27 0 0 1 0 0 CTSK 1513 broad.mit.edu 37 1 150776657 150776657 + Missense_Mutation SNP T T C TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr1:150776657T>C ENST00000271651.3 - 5 568 c.458A>G c.(457-459)aAg>aGg p.K153R CTSK_ENST00000480670.1_5'UTR NM_000396.3 NP_000387.1 P43235 CATK_HUMAN cathepsin K 153 proteolysis lysosome cysteine-type endopeptidase activity|protein binding cervix(1)|endometrium(1)|lung(4)|skin(1) 7 all_cancers(9;2.32e-51)|all_epithelial(9;3.89e-42)|all_lung(15;4.59e-35)|Lung NSC(24;1.7e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Colorectal(459;0.171)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0485)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211) AGTTTTCTTCTTGAGTTGGCC 0.483000 4 36 0 0 1 0 0 CELSR3 1951 broad.mit.edu 37 3 48699772 48699772 + Missense_Mutation SNP C C G TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr3:48699772C>G ENST00000544264.1 - 1 576 c.296G>C c.(295-297)cGa>cCa p.R99P CELSR3_ENST00000164024.4_Missense_Mutation_p.R99P Q9NYQ7 CELR3_HUMAN cadherin, EGF LAG seven-pass G-type receptor 3 99 homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 83 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619) AGGGGGCCCTCGACTATTCCG 0.667000 10 84 0 0 1 0 0 KLF5 688 broad.mit.edu 37 13 73636244 73636244 + Missense_Mutation SNP C C A TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr13:73636244C>A ENST00000377687.4 + 2 1043 c.507C>A c.(505-507)ttC>ttA p.F169L KLF5_ENST00000477333.1_3'UTR|KLF5_ENST00000539231.1_Missense_Mutation_p.F78L NM_001730.3 NP_001721.2 Q13887 KLF5_HUMAN Kruppel-like factor 5 (intestinal) 169 transcription from RNA polymerase II promoter nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 Prostate(6;0.00187)|Breast(118;0.0735) GBM - Glioblastoma multiforme(99;0.0011) TTGCCATTTTCAGCCACCAGA 0.562000 3 33 1 1 1 1 0 GDPD1 284161 broad.mit.edu 37 17 57335173 57335173 + Missense_Mutation SNP A A T TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr17:57335173A>T ENST00000284116.4 + 6 685 c.548A>T c.(547-549)tAt>tTt p.Y183F GDPD1_ENST00000581140.1_Missense_Mutation_p.Y183F|GDPD1_ENST00000581276.1_Missense_Mutation_p.Y183F NM_182569.3 NP_872375.2 Q8N9F7 GDPD1_HUMAN glycerophosphodiester phosphodiesterase domain containing 1 183 GDPD. glycerol metabolic process|lipid metabolic process cytoplasm|integral to membrane glycerophosphodiester phosphodiesterase activity|metal ion binding endometrium(1)|kidney(1)|liver(1)|lung(2)|upper_aerodigestive_tract(1) 6 all_neural(34;0.0837)|Medulloblastoma(34;0.0922) AATGCCAATTATGAAATTGTA 0.318000 12 45 0 0 1 0 0 FANCM 57697 broad.mit.edu 37 14 45644716 45644716 + Missense_Mutation SNP C C G TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr14:45644716C>G ENST00000267430.5 + 14 2844 c.2759C>G c.(2758-2760)cCg>cGg p.P920R FANCM_ENST00000542564.2_Missense_Mutation_p.P894R NM_020937.2 NP_065988.1 Q8IYD8 FANCM_HUMAN Fanconi anemia, complementation group M 920 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 ATTAAAGAACCGTGTGTGTTA 0.303000 Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 6 92 0 0 1 0 0 RTN3 10313 broad.mit.edu 37 11 63487795 63487795 + Silent SNP G G A TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr11:63487795G>A ENST00000377819.5 + 3 1975 c.1821G>A c.(1819-1821)gaG>gaA p.E607E RTN3_ENST00000540798.1_Silent_p.E495E|RTN3_ENST00000354497.4_Intron|RTN3_ENST00000356000.3_Intron|RTN3_ENST00000339997.4_Silent_p.E588E|RTN3_ENST00000341307.2_Intron|RTN3_ENST00000537981.1_Intron NM_001265589.1 NP_001252518.1 O95197 RTN3_HUMAN reticulon 3 607 apoptosis|endoplasmic reticulum tubular network organization|interspecies interaction between organisms|response to stress|vesicle-mediated transport endoplasmic reticulum membrane|extracellular space|Golgi membrane|integral to membrane cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|urinary_tract(1) 20 TTACTACTGAGAACCCCAAAC 0.413000 10 72 0 0 1 0 0 TSNAXIP1 55815 broad.mit.edu 37 16 67860069 67860069 + Missense_Mutation SNP G G T TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr16:67860069G>T ENST00000388833.3 + 10 1374 c.997G>T c.(997-999)Ggc>Tgc p.G333C TSNAXIP1_ENST00000415766.3_Missense_Mutation_p.G318C|TSNAXIP1_ENST00000561639.1_Missense_Mutation_p.G387C NM_018430.2 NP_060900.2 Q2TAA8 TXIP1_HUMAN translin-associated factor X interacting protein 1 333 cell differentiation|multicellular organismal development|spermatogenesis perinuclear region of cytoplasm NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|prostate(1)|soft_tissue(1)|urinary_tract(1) 22 Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.00432)|Epithelial(162;0.0192)|all cancers(182;0.125) GGTGGCTGGGGGCCCAGAGCG 0.642000 6 12 2.0095e-06 2.58774e-06 1 1 0 NEB 4703 broad.mit.edu 37 2 152536438 152536438 + Missense_Mutation SNP G G C TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr2:152536438G>C ENST00000397345.3 - 31 3343 c.3141C>G c.(3139-3141)atC>atG p.I1047M NEB_ENST00000409198.1_Missense_Mutation_p.I1047M|NEB_ENST00000172853.10_Missense_Mutation_p.I1047M|NEB_ENST00000427231.2_Missense_Mutation_p.I1047M|NEB_ENST00000603639.1_Missense_Mutation_p.I1047M|NEB_ENST00000604864.1_Missense_Mutation_p.I1047M NM_001164508.1 NP_001157980 P20929 NEBU_HUMAN nebulin 1047 muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2) 301 BRCA - Breast invasive adenocarcinoma(221;0.219) GCACCTCACTGATATTGTAGG 0.428000 5 36 0 0 1 0 0 GPN3 51184 broad.mit.edu 37 12 110891654 110891654 + Missense_Mutation SNP C C A TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr12:110891654C>A ENST00000543199.1 - 7 887 c.803G>T c.(802-804)cGa>cTa p.R268L GPN3_ENST00000537466.2_Missense_Mutation_p.R239L|GPN3_ENST00000228827.3_Missense_Mutation_p.R229L NM_001164372.1 NP_001157844.1 Q9UHW5 GPN3_HUMAN GPN-loop GTPase 3 229 protein complex GTP binding endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|urinary_tract(1) 8 AGGTAAAAATCGAACCATGCT 0.313000 8 39 3.09899e-07 4.10811e-07 1 1 0 CHRNA2 1135 broad.mit.edu 37 8 27320812 27320812 + Missense_Mutation SNP G G C TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr8:27320812G>C ENST00000407991.1 - 6 1756 c.1148C>G c.(1147-1149)cCc>cGc p.P383R CHRNA2_ENST00000520933.2_Missense_Mutation_p.P383R|CHRNA2_ENST00000240132.2_Missense_Mutation_p.P368R NM_000742.3 NP_000733.2 Q15822 ACHA2_HUMAN cholinergic receptor, nicotinic, alpha 2 (neuronal) 383 cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 23 Ovarian(32;2.61e-05) UCEC - Uterine corpus endometrioid carcinoma (27;0.0208)|Epithelial(17;2.77e-10)|Colorectal(74;0.136) Atracurium(DB00732)|Biperiden(DB00810)|Carbachol(DB00411)|Cisatracurium Besylate(DB00565)|Decamethonium(DB01245)|Dextromethorphan(DB00514)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Gallamine Triethiodide(DB00483)|Levallorphan(DB00504)|Mecamylamine(DB00657)|Metocurine Iodide(DB00416)|Metocurine(DB01336)|Mivacurium(DB01226)|Nicotine(DB00184)|Pancuronium(DB01337)|Pipecuronium(DB01338)|Rocuronium(DB00728)|Tubocurarine(DB01199) GGGTGGTGGGGGCCGGTTCAT 0.672000 7 23 0 0 1 0 0 RUVBL2 10856 broad.mit.edu 37 19 49513131 49513131 + Silent SNP C C A TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr19:49513131C>A ENST00000413176.2 + 7 1574 c.426C>A c.(424-426)gtC>gtA p.V142V RUVBL2_ENST00000601968.1_Silent_p.V142V|RUVBL2_ENST00000595090.1_Silent_p.V187V Q9Y230 RUVB2_HUMAN RuvB-like AAA ATPase 2 187 cellular response to UV|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|protein folding|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|Ino80 complex|membrane|MLL1 complex|NuA4 histone acetyltransferase complex|nuclear matrix ATP binding|ATP-dependent DNA helicase activity|damaged DNA binding|identical protein binding|unfolded protein binding large_intestine(1)|upper_aerodigestive_tract(1) 2 all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) all cancers(93;0.000449)|OV - Ovarian serous cystadenocarcinoma(262;0.000555)|GBM - Glioblastoma multiforme(486;0.00585)|Epithelial(262;0.047) AGGACAAGGTCCAGGCCGGGT 0.617000 6 50 8.12818e-05 9.75073e-05 1 1 0 CLCN4 1183 broad.mit.edu 37 X 10163105 10163105 + Silent SNP G G A TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chrX:10163105G>A ENST00000380833.4 + 5 790 c.399G>A c.(397-399)caG>caA p.Q133Q CLCN4_ENST00000380829.1_Silent_p.Q133Q|CLCN4_ENST00000421085.2_Silent_p.Q39Q NM_001256944.1|NM_001830.3 NP_001243873.1|NP_001821.2 P51793 CLCN4_HUMAN chloride channel, voltage-sensitive 4 133 early endosome membrane|integral to membrane|late endosome membrane antiporter activity|ATP binding|voltage-gated chloride channel activity breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 CCCTGTGGCAGAAATGGTCGG 0.572000 9 58 0 0 1 0 0 MSH2 4436 broad.mit.edu 37 2 47635645 47635645 + Missense_Mutation SNP G G C rs41295286 TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr2:47635645G>C ENST00000406134.1 + 2 379 c.317G>C c.(316-318)aGa>aCa p.R106T MSH2_ENST00000543555.1_Missense_Mutation_p.R40T|MSH2_ENST00000233146.2_Missense_Mutation_p.R106T P43246 MSH2_HUMAN mutS homolog 2 106 R -> K (in dbSNP:rs41295286). B cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|double-strand break repair|intra-S DNA damage checkpoint|isotype switching|maintenance of DNA repeat elements|male gonad development|meiotic gene conversion|meiotic mismatch repair|negative regulation of neuron apoptosis|negative regulation of reciprocal meiotic recombination|positive regulation of helicase activity|postreplication repair|response to UV-B|response to X-ray|somatic hypermutation of immunoglobulin genes MutSalpha complex|MutSbeta complex|nuclear chromosome ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|guanine/thymine mispair binding|loop DNA binding|protein C-terminus binding|protein homodimerization activity|protein kinase binding|Y-form DNA binding p.0?(2)|p.?(1) NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(5)|large_intestine(50)|lung(18)|ovary(5)|prostate(2)|skin(3)|small_intestine(1)|stomach(2)|urinary_tract(1) 112 all_hematologic(82;0.0359)|Acute lymphoblastic leukemia(82;0.175) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) TATAAGAATAGAGCTGGAAAT 0.289000 """D, Mis, N, F, S""" """colorectal, endometrial, ovarian""" """colorectal, endometrial, ovarian""" Mismatch excision repair (MMR) Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome 7 46 0 0 1 0 0 SLC27A1 376497 broad.mit.edu 37 19 17598006 17598006 + Silent SNP C C T TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr19:17598006C>T ENST00000252595.7 + 3 683 c.586C>T c.(586-588)Ctg>Ttg p.L196L SLC27A1_ENST00000442725.1_Silent_p.L196L|SLC27A1_ENST00000598424.1_Silent_p.L17L NM_198580.1 NP_940982.1 Q6PCB7 S27A1_HUMAN solute carrier family 27 (fatty acid transporter), member 1 196 Sufficient for oligomerization (By similarity). cardiolipin biosynthetic process|fatty acid metabolic process|long-chain fatty acid transport|negative regulation of phospholipid biosynthetic process|phosphatidic acid biosynthetic process|phosphatidylcholine biosynthetic process|phosphatidylethanolamine biosynthetic process|phosphatidylinositol biosynthetic process|phosphatidylserine biosynthetic process|transmembrane transport endomembrane system|integral to membrane fatty acid transporter activity|nucleotide binding breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 23 GAGCGGGCATCTGGGGAAAAG 0.642000 3 29 0 0 1 0 0 HOXC10 3226 broad.mit.edu 37 12 54379266 54379266 + Missense_Mutation SNP C C A TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr12:54379266C>A ENST00000303460.4 + 1 297 c.223C>A c.(223-225)Cag>Aag p.Q75K HOXC-AS3_ENST00000514702.1_RNA NM_017409.3 NP_059105.2 Q9NYD6 HXC10_HUMAN homeobox C10 75 positive regulation of cell proliferation nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(2)|large_intestine(3)|lung(14)|pancreas(1) 20 CTACCTCTCGCAGCTGGACTC 0.667000 3 29 0.150653 0.155077 1 1 0 KIF21A 55605 broad.mit.edu 37 12 39745694 39745694 + Missense_Mutation SNP A A C TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr12:39745694A>C ENST00000395670.3 - 11 1977 c.1558T>G c.(1558-1560)Tca>Gca p.S520A KIF21A_ENST00000544797.2_Missense_Mutation_p.S520A|KIF21A_ENST00000361418.5_Missense_Mutation_p.S520A|KIF21A_ENST00000541463.2_Missense_Mutation_p.S520A|KIF21A_ENST00000361961.3_Missense_Mutation_p.S520A Q7Z4S6 KI21A_HUMAN kinesin family member 21A 520 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2) 86 Lung NSC(34;0.179)|all_lung(34;0.213) AAAGTTGATGATCCGCTGAAA 0.348000 4 95 0 0 1 0 0 USP9X 8239 broad.mit.edu 37 X 41060455 41060455 + Missense_Mutation SNP G G C TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chrX:41060455G>C ENST00000324545.8 + 31 5379 c.4746G>C c.(4744-4746)agG>agC p.R1582S USP9X_ENST00000378308.2_Missense_Mutation_p.R1582S NM_001039590.2|NM_001039591.2 NP_001034679.2|NP_001034680.2 Q93008 USP9X_HUMAN ubiquitin specific peptidase 9, X-linked BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process cytoplasm co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 87 CTTCCATTAGGAACGGTATTC 0.448000 5 50 0 0 1 0 0 LPIN2 9663 broad.mit.edu 37 18 2951276 2951276 + Missense_Mutation SNP C C A TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr18:2951276C>A ENST00000261596.4 - 4 605 c.367G>T c.(367-369)Gtg>Ttg p.V123L RP11-737O24.2_ENST00000584431.1_RNA NM_014646.2 NP_055461.1 Q92539 LPIN2_HUMAN lipin 2 123 fatty acid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|triglyceride biosynthetic process cytosol|endoplasmic reticulum membrane|nucleus phosphatidate phosphatase activity|transcription coactivator activity autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(1) 29 READ - Rectum adenocarcinoma(2;0.0419)|Colorectal(6;0.156) CCCGATTTCACCAAAGGGGTG 0.408000 3 52 6.4e-05 7.78283e-05 1 1 0 DAND5 199699 broad.mit.edu 37 19 13080516 13080516 + Missense_Mutation SNP C C A TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr19:13080516C>A ENST00000317060.2 + 1 221 c.42C>A c.(40-42)agC>agA p.S14R DAND5_ENST00000585548.1_Missense_Mutation_p.S44R NM_152654.2 NP_689867.1 Q8N907 DAND5_HUMAN DAN domain family member 5, BMP antagonist 14 extracellular region kidney(2)|lung(3)|ovary(1) 6 OV - Ovarian serous cystadenocarcinoma(19;1.87e-18) GCCTGCTTAGCGGGGCCCTGC 0.637000 10 94 3.07112e-06 3.93078e-06 1 1 0 DOCK7 85440 broad.mit.edu 37 1 63024686 63024686 + Missense_Mutation SNP C C A TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr1:63024686C>A ENST00000251157.5 - 20 2438 c.2405G>T c.(2404-2406)aGa>aTa p.R802I DOCK7_ENST00000340370.5_Missense_Mutation_p.R802I NM_001271999.1 NP_001258928.1 Q96N67 DOCK7_HUMAN dedicator of cytokinesis 7 802 activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation axon|basal part of cell|growth cone GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 92 GACAGGAGGTCTAATAACTAA 0.343000 4 31 0.00024832 0.000293427 1 1 0 DLGAP4 22839 broad.mit.edu 37 20 35060907 35060907 + Missense_Mutation SNP G G C TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr20:35060907G>C ENST00000373913.3 + 3 1267 c.787G>C c.(787-789)Gag>Cag p.E263Q DLGAP4_ENST00000339266.5_Missense_Mutation_p.E263Q|DLGAP4_ENST00000373907.2_Missense_Mutation_p.E263Q|DLGAP4_ENST00000401952.2_Missense_Mutation_p.E263Q Q9Y2H0 DLGP4_HUMAN discs, large (Drosophila) homolog-associated protein 4 263 cell-cell signaling membrane protein binding p.E263*(1) breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 37 Breast(12;0.0192) Myeloproliferative disorder(115;0.00878) CAACACTACTGAGCTGACTGC 0.627000 5 35 0 0 1 0 0 IQCC 55721 broad.mit.edu 37 1 32673416 32673416 + Silent SNP G G A TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr1:32673416G>A ENST00000537469.1 + 5 1421 c.1374G>A c.(1372-1374)gaG>gaA p.E458E IQCC_ENST00000291358.6_Silent_p.E378E NM_001160042.1 NP_001153514.1 Q4KMZ1 IQCC_HUMAN IQ motif containing C 378 endometrium(4)|large_intestine(1)|lung(3)|ovary(4)|skin(2)|urinary_tract(1) 15 Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186) GCCTCTCAGAGGACCACATCA 0.522000 4 48 0 0 1 0 0 ADAMTS18 170692 broad.mit.edu 37 16 77396028 77396028 + Missense_Mutation SNP C C A TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr16:77396028C>A ENST00000282849.5 - 7 1608 c.1190G>T c.(1189-1191)tGg>tTg p.W397L NM_199355.2 NP_955387.1 Q8TE60 ATS18_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 18 397 Peptidase M12B. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 118 TTCATTCTTCCAAGAACAAAT 0.398000 3 41 0.004672 0.00517199 1 1 0 SLC6A15 55117 broad.mit.edu 37 12 85279839 85279839 + Translation_Start_Site SNP G G C rs143012212 by1000genomes TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr12:85279839G>C ENST00000552192.1 - 0 287 SLC6A15_ENST00000266682.5_Missense_Mutation_p.L100V|SLC6A15_ENST00000450363.3_Missense_Mutation_p.L100V|SLC6A15_ENST00000551388.1_Intron NM_001146335.2 NP_001139807.1 Q9H2J7 S6A15_HUMAN solute carrier family 6 (neutral amino acid transporter), member 15 cellular nitrogen compound metabolic process|leucine transport|proline transport integral to plasma membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity kidney(1)|large_intestine(18)|lung(15)|ovary(1)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1) 44 TATGGTAAAAGATATGCACCT 0.308000 7 58 0 0 1 0 0 CRNN 49860 broad.mit.edu 37 1 152384703 152384703 + Nonsense_Mutation SNP G G A TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr1:152384703G>A ENST00000271835.3 - 2 69 c.7C>T c.(7-9)Cag>Tag p.Q3* RP1-91G5.3_ENST00000411804.1_RNA NM_016190.2 NP_057274.1 Q9UBG3 CRNN_HUMAN cornulin 3 cell-cell adhesion|response to heat cytoplasm|membrane calcium ion binding breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 35 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) TGCAGTAACTGAGGCATCTTT 0.493000 5 54 0 0 1 0 0 DUSP18 150290 broad.mit.edu 37 22 31059774 31059774 + Missense_Mutation SNP C C T TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr22:31059774C>T ENST00000334679.3 - 2 722 c.217G>A c.(217-219)Gac>Aac p.D73N DUSP18_ENST00000407308.1_Missense_Mutation_p.D73N|DUSP18_ENST00000404885.1_Missense_Mutation_p.D73N|DUSP18_ENST00000461301.1_Intron|DUSP18_ENST00000403268.1_Intron NM_152511.3 NP_689724.3 Q8NEJ0 DUS18_HUMAN dual specificity phosphatase 18 73 cytoplasm|nucleus MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity large_intestine(1)|lung(1)|prostate(1)|skin(1) 4 TTAGGGGAGTCAGCCACAGGT 0.507000 12 45 0 0 1 0 0 CHI3L2 1117 broad.mit.edu 37 1 111773891 111773891 + Missense_Mutation SNP G G C TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr1:111773891G>C ENST00000445067.2 + 6 1075 c.304G>C c.(304-306)Gga>Cga p.G102R CHI3L2_ENST00000369744.2_Missense_Mutation_p.G92R|CHI3L2_ENST00000524472.1_Missense_Mutation_p.G23R|CHI3L2_ENST00000369748.4_Missense_Mutation_p.G102R|CHI3L2_ENST00000466741.1_Missense_Mutation_p.G23R Q15782 CH3L2_HUMAN chitinase 3-like 2 102 chitin catabolic process extracellular space cation binding|chitinase activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|prostate(1) 19 all_cancers(81;1.89e-05)|all_epithelial(167;7.36e-06)|all_lung(203;0.00018)|Lung NSC(277;0.000359) Lung(183;0.0171)|Colorectal(144;0.0387)|all cancers(265;0.0464)|LUSC - Lung squamous cell carcinoma(189;0.0872)|Epithelial(280;0.0994)|COAD - Colon adenocarcinoma(174;0.141) CTTGTCCATTGGAGGGTACCT 0.363000 4 66 0 0 1 0 0 WDR20 91833 broad.mit.edu 37 14 102675281 102675281 + Missense_Mutation SNP G G C TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr14:102675281G>C ENST00000335263.5 + 3 854 c.774G>C c.(772-774)atG>atC p.M258I WDR20_ENST00000545563.1_Missense_Mutation_p.M85I|WDR20_ENST00000556511.2_Missense_Mutation_p.M197I|WDR20_ENST00000342702.3_Missense_Mutation_p.M258I|WDR20_ENST00000424963.2_Missense_Mutation_p.M134I|WDR20_ENST00000499851.2_Start_Codon_SNP_p.M1I|WDR20_ENST00000322340.5_Intron|WDR20_ENST00000454394.2_Missense_Mutation_p.M289I|WDR20_ENST00000556807.1_Missense_Mutation_p.M197I|WDR20_ENST00000299135.6_3'UTR NM_181291.2 NP_851808.1 Q8TBZ3 WDR20_HUMAN WD repeat domain 20 258 breast(1)|large_intestine(2)|lung(4)|prostate(1) 8 ACGGTACGATGAAAAGCTACT 0.552000 4 27 0 0 1 0 0 FAM208B 54906 broad.mit.edu 37 10 5788318 5788318 + Silent SNP C C A TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr10:5788318C>A ENST00000328090.5 + 15 3559 c.2934C>A c.(2932-2934)acC>acA p.T978T NM_017782.4 NP_060252 Q5VWN6 CJ018_HUMAN family with sequence similarity 208, member B 978 CCACATTCACCAGGACTTACG 0.473000 8 63 0.00307968 0.00345779 1 1 0 FADS3 3995 broad.mit.edu 37 11 61647624 61647624 + Splice_Site SNP C C A TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr11:61647624C>A ENST00000540820.1 - 2 286 c.e2-1 FADS3_ENST00000527697.1_Splice_Site|FADS3_ENST00000525588.1_Splice_Site|FADS3_ENST00000278829.2_Splice_Site Q9Y5Q0 FADS3_HUMAN fatty acid desaturase 3 electron transport chain|transport|unsaturated fatty acid biosynthetic process endoplasmic reticulum membrane|integral to membrane|membrane fraction heme binding|oxidoreductase activity, acting on paired donors, with oxidation of a pair of donors resulting in the reduction of molecular oxygen to two molecules of water central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 GGAAGGCATCCTGAAGGAGAG 0.567000 8 25 3.09899e-07 4.10811e-07 1 1 0 DIDO1 11083 broad.mit.edu 37 20 61510964 61510964 + Missense_Mutation SNP C C T TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr20:61510964C>T ENST00000266070.4 - 16 6669 c.6344G>A c.(6343-6345)aGa>aAa p.R2115K DIDO1_ENST00000395343.1_Missense_Mutation_p.R2115K NM_033081.2 NP_149072.2 Q9BTC0 DIDO1_HUMAN death inducer-obliterator 1 2115 Arg-rich. apoptosis|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1) 99 Breast(26;5.68e-08) CTCGCGCTCTCTCCTCCTGTC 0.701000 9 135 0 0 1 0 0 RBBP8 5932 broad.mit.edu 37 18 20586357 20586357 + Silent SNP G G A TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr18:20586357G>A ENST00000399722.2 + 16 2670 c.2319G>A c.(2317-2319)caG>caA p.Q773Q RBBP8_ENST00000327155.5_Silent_p.Q773Q|RBBP8_ENST00000360790.5_Silent_p.Q778Q|RBBP8_ENST00000399725.2_Silent_p.Q773Q NM_203291.1 NP_976036.1 Q99708 COM1_HUMAN retinoblastoma binding protein 8 773 cell cycle checkpoint|DNA double-strand break processing involved in repair via single-strand annealing|meiosis|regulation of transcription from RNA polymerase II promoter nucleus damaged DNA binding|protein binding|single-stranded DNA specific endodeoxyribonuclease activity central_nervous_system(1)|cervix(2)|endometrium(5)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1) 24 all_cancers(21;4.34e-05)|all_epithelial(16;8.3e-07)|Lung NSC(20;0.0107)|Colorectal(14;0.0202)|all_lung(20;0.0291)|Ovarian(20;0.19) OV - Ovarian serous cystadenocarcinoma(1;0.00196) AAGTCAAGCAGAAAGCGTTTG 0.323000 Homologous recombination 3 45 0 0 1 0 0 SLITRK4 139065 broad.mit.edu 37 X 142718438 142718438 + Missense_Mutation SNP T T A TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chrX:142718438T>A ENST00000381779.4 - 2 712 c.487A>T c.(487-489)Aat>Tat p.N163Y SLITRK4_ENST00000356928.1_Missense_Mutation_p.N163Y|SLITRK4_ENST00000338017.4_Missense_Mutation_p.N163Y NM_001184749.2|NM_001184750.1|NM_173078.4 NP_001171678.1|NP_001171679.1|NP_775101.1 Q8IW52 SLIK4_HUMAN SLIT and NTRK-like family, member 4 163 integral to membrane autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2) 60 Acute lymphoblastic leukemia(192;6.56e-05) AGATTGTCATTAAGAATGAGA 0.383000 19 110 0 0 1 0 0 MARCH7 64844 broad.mit.edu 37 2 160621181 160621181 + Silent SNP C C G TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr2:160621181C>G ENST00000259050.4 + 9 2174 c.2052C>G c.(2050-2052)ctC>ctG p.L684L MARCH7_ENST00000409591.1_Silent_p.L646L|MARCH7_ENST00000539065.1_Intron|MARCH7_ENST00000409175.1_Silent_p.L684L NM_001282805.1|NM_001282807.1|NM_022826.2 NP_001269734.1|NP_001269736.1|NP_073737.1 Q9H992 MARH7_HUMAN membrane-associated ring finger (C3HC4) 7, E3 ubiquitin protein ligase ligase activity|zinc ion binding breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(2) 18 TGGAAGATCTCGAAAGTAGGT 0.353000 6 75 0 0 1 0 0 ADAMTS12 81792 broad.mit.edu 37 5 33576407 33576407 + Missense_Mutation SNP C C T TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr5:33576407C>T ENST00000504830.1 - 19 4059 c.3724G>A c.(3724-3726)Gaa>Aaa p.E1242K ADAMTS12_ENST00000352040.3_Missense_Mutation_p.E1157K NM_030955.2 NP_112217.2 P58397 ATS12_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 12 1242 Spacer 2. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5) 216 GCTGGCTTTTCAGTAACCATC 0.552000 HNSCC(64;0.19) 10 91 0 0 1 0 0 ZNF222 7673 broad.mit.edu 37 19 44536063 44536063 + Missense_Mutation SNP A A G TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr19:44536063A>G ENST00000187879.8 + 4 398 c.236A>G c.(235-237)gAc>gGc p.D79G ZNF223_ENST00000591793.1_Intron|ZNF222_ENST00000391960.3_Missense_Mutation_p.D119G NM_013360.2 NP_037492.2 Q9UK12 ZN222_HUMAN zinc finger protein 222 79 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|large_intestine(7)|lung(6)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1) 20 Prostate(69;0.0435) ATTGCAAGTGACTTAACCAGG 0.408000 14 48 0 0 1 0 0 UBR2 23304 broad.mit.edu 37 6 42613228 42613228 + Missense_Mutation SNP G G C TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr6:42613228G>C ENST00000372901.1 + 21 2567 c.2309G>C c.(2308-2310)gGa>gCa p.G770A UBR2_ENST00000372883.3_Missense_Mutation_p.G274A|UBR2_ENST00000372899.1_Missense_Mutation_p.G770A Q8IWV8 UBR2_HUMAN ubiquitin protein ligase E3 component n-recognin 2 770 cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade nucleus|plasma membrane leucine binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5) 64 Colorectal(47;0.196) Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196) CCTGGAGTTGGACAGGTAAAT 0.338000 10 31 0 0 1 0 0 GBP4 115361 broad.mit.edu 37 1 89655855 89655855 + Missense_Mutation SNP G G T TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr1:89655855G>T ENST00000355754.6 - 7 1160 c.1063C>A c.(1063-1065)Cag>Aag p.Q355K NM_052941.4 NP_443173.2 Q96PP9 GBP4_HUMAN guanylate binding protein 4 355 cytoplasm GTP binding|GTPase activity central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(19)|skin(1)|stomach(2)|urinary_tract(1) 33 all cancers(265;0.00723)|Epithelial(280;0.0291) CTCAGTTGCTGGGCCATCTGC 0.592000 3 40 6.4e-05 7.78283e-05 1 1 0 ARHGAP25 9938 broad.mit.edu 37 2 69049647 69049647 + Missense_Mutation SNP A A G TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr2:69049647A>G ENST00000295381.3 + 10 1792 c.1373A>G c.(1372-1374)aAc>aGc p.N458S ARHGAP25_ENST00000409220.1_Missense_Mutation_p.N452S|ARHGAP25_ENST00000409030.3_Missense_Mutation_p.N451S|ARHGAP25_ENST00000409202.3_Missense_Mutation_p.N459S|ARHGAP25_ENST00000479844.1_Missense_Mutation_p.N152S|ARHGAP25_ENST00000467265.1_Missense_Mutation_p.N419S NM_001007231.2 NP_001007232.2 P42331 RHG25_HUMAN Rho GTPase activating protein 25 458 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1) 52 CAGGGTGCCAACAGCAGCAAA 0.483000 6 64 0 0 1 0 0 PTPRT 11122 broad.mit.edu 37 20 41076862 41076862 + Missense_Mutation SNP C C T TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr20:41076862C>T ENST00000373198.4 - 9 1793 c.1558G>A c.(1558-1560)Gag>Aag p.E520K PTPRT_ENST00000373201.1_Missense_Mutation_p.E520K|PTPRT_ENST00000356100.2_Missense_Mutation_p.E520K|PTPRT_ENST00000373193.3_Missense_Mutation_p.E520K|PTPRT_ENST00000373190.1_Missense_Mutation_p.E520K|PTPRT_ENST00000373184.1_Missense_Mutation_p.E520K|PTPRT_ENST00000373187.1_Missense_Mutation_p.E520K NM_133170.3 NP_573400.3 O14522 PTPRT_HUMAN protein tyrosine phosphatase, receptor type, T Fibronectin type-III 3. homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway cell surface|integral to membrane|plasma membrane alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 176 Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783) CTCCTTACCTCGTAGAGCGTG 0.488000 19 112 0 0 1 0 0 ZNF613 79898 broad.mit.edu 37 19 52443932 52443932 + Missense_Mutation SNP G G A TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr19:52443932G>A ENST00000293471.6 + 5 884 c.205G>A c.(205-207)Gaa>Aaa p.E69K ZNF613_ENST00000391794.4_Missense_Mutation_p.E33K NM_001031721.3 NP_001026891.2 Q6PF04 ZN613_HUMAN zinc finger protein 613 69 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1) 19 all_neural(266;0.117) GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.0183) ATGGACAGTAGAAAATGAAAT 0.468000 13 52 0 0 1 0 0 GP9 2815 broad.mit.edu 37 3 128780788 128780788 + Missense_Mutation SNP G G A TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr3:128780788G>A ENST00000307395.4 + 3 428 c.206G>A c.(205-207)gGa>gAa p.G69E NM_000174.3 NP_000165.1 P14770 GPIX_HUMAN glycoprotein IX (platelet) 69 blood coagulation, intrinsic pathway|cell adhesion|platelet activation integral to plasma membrane protein binding NS(1)|central_nervous_system(1)|lung(4) 6 Quinine(DB00468) GTGCCCCCGGGAGCCTTTGAC 0.682000 3 11 0 0 1 0 0 TNFAIP8L1 126282 broad.mit.edu 37 19 4651999 4651999 + Missense_Mutation SNP G G A TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr19:4651999G>A ENST00000536716.1 + 2 264 c.118G>A c.(118-120)Gat>Aat p.D40N TNFAIP8L1_ENST00000327473.4_Missense_Mutation_p.D40N NM_001167942.1 NP_001161414.1 Q8WVP5 TP8L1_HUMAN tumor necrosis factor, alpha-induced protein 8-like 1 40 endometrium(1) 1 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18) TGAGGTGCTGGATGAGCTGTA 0.617000 5 21 0 0 1 0 0 DDX23 9416 broad.mit.edu 37 12 49230396 49230396 + Silent SNP G G A TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr12:49230396G>A ENST00000308025.3 - 10 1271 c.1192C>T c.(1192-1194)Ctg>Ttg p.L398L NM_004818.2 NP_004809.2 Q9BUQ8 DDX23_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 23 398 catalytic step 2 spliceosome|nucleoplasm|U5 snRNP ATP binding|ATP-dependent RNA helicase activity|nucleic acid binding|protein binding NS(1)|cervix(1)|kidney(4)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(3) 36 TGTGGGGGCAGAGAAGAGTCT 0.517000 7 60 0 0 1 0 0 HABP2 3026 broad.mit.edu 37 10 115344031 115344031 + Silent SNP T T C TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr10:115344031T>C ENST00000351270.3 + 11 1458 c.1362T>C c.(1360-1362)gtT>gtC p.V454V HABP2_ENST00000542051.1_Silent_p.V428V NM_004132.3 NP_004123.1 Q14520 HABP2_HUMAN hyaluronan binding protein 2 454 Peptidase S1. cell adhesion|proteolysis extracellular space glycosaminoglycan binding|serine-type endopeptidase activity breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(2) 23 Colorectal(252;0.0233)|Breast(234;0.0672) Epithelial(162;0.00319)|all cancers(201;0.0112) GCTGGGGTGTTACAGAAACAG 0.493000 6 35 0 0 1 0 0 SEC63 11231 broad.mit.edu 37 6 108204218 108204218 + Nonsense_Mutation SNP C C A TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr6:108204218C>A ENST00000369002.4 - 17 1986 c.1807G>T c.(1807-1809)Gaa>Taa p.E603* NM_007214.4 NP_009145.1 Q9UGP8 SEC63_HUMAN SEC63 homolog (S. cerevisiae) 603 protein folding|protein targeting to membrane endoplasmic reticulum membrane|integral to membrane heat shock protein binding|receptor activity|unfolded protein binding endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 all_cancers(87;5.35e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0294) BRCA - Breast invasive adenocarcinoma(108;0.0079)|Epithelial(106;0.0356)|all cancers(137;0.0525)|OV - Ovarian serous cystadenocarcinoma(136;0.054) TTTTGTTTTTCATCTTGCTCT 0.338000 8 46 1.08611e-07 1.44585e-07 1 1 0 POM121L9P 29774 broad.mit.edu 37 22 24659734 24659734 + RNA SNP T T C TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr22:24659734T>C ENST00000414583.2 + 0 3259 NR_003714.1 CTCTCTCCTGTGGGAGGGGGG 0.632000 3 1 0 0 1 0 0 CELA3B 23436 broad.mit.edu 37 1 22310252 22310252 + Nonsense_Mutation SNP C C G TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr1:22310252C>G ENST00000337107.6 + 5 447 c.428C>G c.(427-429)tCa>tGa p.S143* NM_007352.2 NP_031378.1 P08861 CEL3B_HUMAN chymotrypsin-like elastase family, member 3B 143 Peptidase S1. cholesterol metabolic process|proteolysis extracellular region serine-type endopeptidase activity breast(2)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1) 8 CAGCTCGCCTCACTCCCTCCG 0.627000 7 45 0 0 1 0 0 GPBP1L1 60313 broad.mit.edu 37 1 46120320 46120320 + Silent SNP G G A TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr1:46120320G>A ENST00000355105.3 - 6 1732 c.372C>T c.(370-372)ttC>ttT p.F124F GPBP1L1_ENST00000290795.3_Silent_p.F124F NM_021639.4 NP_067652.1 Q9HC44 GPBL1_HUMAN GC-rich promoter binding protein 1-like 1 124 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding GPBP1L1/MAST2_ENST00000361297(2) breast(1)|endometrium(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|stomach(1) 21 Acute lymphoblastic leukemia(166;0.155) TCCGGGAGTGGAAGCTGCCAT 0.512000 7 44 0 0 1 0 0 CMA1 1215 broad.mit.edu 37 14 24975399 24975399 + Silent SNP C C A TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr14:24975399C>A ENST00000250378.3 - 4 464 c.435G>T c.(433-435)cgG>cgT p.R145R CMA1_ENST00000206446.4_Silent_p.R34R|RP11-80A15.1_ENST00000555109.1_Intron NM_001836.3 NP_001827.1 P23946 CMA1_HUMAN chymase 1, mast cell 145 Peptidase S1. interleukin-1 beta biosynthetic process|proteolysis extracellular region serine-type endopeptidase activity kidney(1)|lung(8)|pancreas(1)|prostate(1) 11 GBM - Glioblastoma multiforme(265;0.0271) AGCCAGCCACCCGGCACATTC 0.582000 3 30 0.00909568 0.00992971 1 1 0 EPM2AIP1 9852 broad.mit.edu 37 3 37032824 37032824 + Missense_Mutation SNP G G A TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr3:37032824G>A ENST00000322716.5 - 1 1971 c.1745C>T c.(1744-1746)gCc>gTc p.A582V NM_014805.3 NP_055620.1 Q7L775 EPMIP_HUMAN EPM2A (laforin) interacting protein 1 582 endoplasmic reticulum breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(12)|ovary(2) 27 CCGAAACAGGGCTTGGAGATG 0.413000 9 95 0 0 1 0 0 DHX58 79132 broad.mit.edu 37 17 40256928 40256928 + Silent SNP C C G TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr17:40256928C>G ENST00000251642.3 - 11 1641 c.1419G>C c.(1417-1419)cgG>cgC p.R473R NM_024119.2 NP_077024.2 Q96C10 DHX58_HUMAN DEXH (Asp-Glu-X-His) box polypeptide 58 473 Helicase C-terminal. R -> W (in Ref. 1; BAB13818). innate immune response cytoplasm ATP binding|DNA binding|helicase activity|protein binding|RNA binding|zinc ion binding breast(2)|endometrium(3)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 all_cancers(22;9.73e-07)|all_epithelial(22;3.58e-05)|Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.126) TCTGATCGGCCCGGGCACGGC 0.627000 13 38 0 0 1 0 0 LIMA1 51474 broad.mit.edu 37 12 50616023 50616023 + Silent SNP G G A TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr12:50616023G>A ENST00000341247.4 - 4 560 c.411C>T c.(409-411)ctC>ctT p.L137L LIMA1_ENST00000552783.1_5'UTR|LIMA1_ENST00000394943.3_Silent_p.L137L|LIMA1_ENST00000552909.1_5'UTR|LIMA1_ENST00000552823.1_5'UTR|RP3-405J10.4_ENST00000551284.1_RNA NM_001113546.1|NM_016357.4 NP_001107018.1|NP_057441.1 Q9UHB6 LIMA1_HUMAN LIM domain and actin binding 1 137 actin filament bundle assembly|negative regulation of actin filament depolymerization|ruffle organization cytoplasm|focal adhesion|stress fiber actin filament binding|actin monomer binding|zinc ion binding NS(1)|breast(4)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(2) 44 GACCCTGAACGAGGGCTTCAG 0.488000 8 62 0 0 1 0 0 PCDHGA8 9708 broad.mit.edu 37 5 140774319 140774319 + Nonsense_Mutation SNP C C T TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr5:140774319C>T ENST00000398604.2 + 1 1939 c.1939C>T c.(1939-1941)Cag>Tag p.Q647* PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB3_ENST00000576222.1_Intron NM_032088.1 NP_114477.1 endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 51 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGTGGCCGTCCAGGACCATGG 0.677000 4 25 0 0 1 0 0 CYP4F22 126410 broad.mit.edu 37 19 15661506 15661506 + Missense_Mutation SNP G G T TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr19:15661506G>T ENST00000269703.3 + 13 1556 c.1357G>T c.(1357-1359)Gac>Tac p.D453Y CYP4F22_ENST00000601005.2_Missense_Mutation_p.D453Y NM_173483.3 NP_775754.2 Q6NT55 CP4FN_HUMAN cytochrome P450, family 4, subfamily F, polypeptide 22 endoplasmic reticulum membrane|microsome electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen endometrium(6)|large_intestine(9)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1) 37 CTACCGCTTTGACCCGGACAA 0.617000 9 43 2.17888e-05 2.69583e-05 1 1 0 PTPRT 11122 broad.mit.edu 37 20 41419868 41419868 + Silent SNP G G C rs140340339 TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr20:41419868G>C ENST00000373198.4 - 3 688 c.453C>G c.(451-453)ctC>ctG p.L151L PTPRT_ENST00000373201.1_Silent_p.L151L|PTPRT_ENST00000356100.2_Silent_p.L151L|PTPRT_ENST00000373193.3_Silent_p.L151L|PTPRT_ENST00000373190.1_Silent_p.L151L|PTPRT_ENST00000373184.1_Silent_p.L151L|PTPRT_ENST00000373187.1_Silent_p.L151L NM_133170.3 NP_573400.3 O14522 PTPRT_HUMAN protein tyrosine phosphatase, receptor type, T MAM. homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway cell surface|integral to membrane|plasma membrane alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity p.L151L(2) NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 176 Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783) TGCTGATGGCGAGCTCTGCCT 0.488000 14 69 0 0 1 0 0 MYLK 4638 broad.mit.edu 37 3 123419168 123419168 + Silent SNP G G T TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr3:123419168G>T ENST00000360772.3 - 19 3525 c.3147C>A c.(3145-3147)ccC>ccA p.P1049P MYLK_ENST00000359169.1_Silent_p.P1049P|MYLK_ENST00000475616.1_Silent_p.P1049P|MYLK_ENST00000346322.5_Silent_p.P980P|MYLK_ENST00000360304.3_Silent_p.P1049P Q15746 MYLK_HUMAN myosin light chain kinase 1049 6 X 12 AA approximate tandem repeats. KPM -> EAH (in Ref. 1 and 7). aorta smooth muscle tissue morphogenesis|muscle contraction cytosol actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 113 Lung NSC(201;0.0496) GBM - Glioblastoma multiforme(114;0.0736) CATTGCCCATGGGCTTCAGGG 0.547000 14 159 3.32936e-07 4.40425e-07 1 1 0 UVSSA 57654 broad.mit.edu 37 4 1347031 1347031 + Missense_Mutation SNP G G C TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr4:1347031G>C ENST00000389851.4 + 5 1211 c.764G>C c.(763-765)aGa>aCa p.R255T UVSSA_ENST00000507531.1_Missense_Mutation_p.R255T|UVSSA_ENST00000511216.1_Missense_Mutation_p.R255T NM_020894.2 NP_065945.2 Q2YD98 K1530_HUMAN UV-stimulated scaffold protein A 255 TGCTGCAGTAGAGACCTGCCT 0.716000 3 23 0 0 1 0 0 TENM1 10178 broad.mit.edu 37 X 123637414 123637414 + Missense_Mutation SNP T T A TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chrX:123637414T>A ENST00000422452.2 - 19 3504 c.3441A>T c.(3439-3441)caA>caT p.Q1147H TENM1_ENST00000371130.3_Missense_Mutation_p.Q1147H NM_001163278.1|NM_001163279.1 NP_001156750.1|NP_001156751.1 teneurin transmembrane protein 1 ACTTACCACTTTGAGGATTCA 0.328000 20 129 0 0 1 0 0 ST3GAL3 6487 broad.mit.edu 37 1 44365307 44365307 + Missense_Mutation SNP G G C TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr1:44365307G>C ENST00000262915.3 + 10 1036 c.859G>C c.(859-861)Gag>Cag p.E287Q ST3GAL3_ENST00000361746.4_Missense_Mutation_p.E287Q|ST3GAL3_ENST00000361400.4_Missense_Mutation_p.E202Q|ST3GAL3_ENST00000531451.1_Intron|ST3GAL3_ENST00000372362.2_Intron|ST3GAL3_ENST00000330208.2_Intron|ST3GAL3_ENST00000332628.6_Missense_Mutation_p.E187Q|ST3GAL3_ENST00000372369.1_Missense_Mutation_p.E218Q|ST3GAL3_ENST00000372374.2_Missense_Mutation_p.E187Q|ST3GAL3_ENST00000372375.2_Missense_Mutation_p.E272Q|ST3GAL3_ENST00000531816.1_Intron|ST3GAL3_ENST00000361392.4_Missense_Mutation_p.E218Q|ST3GAL3_ENST00000361812.4_Intron|ST3GAL3_ENST00000372365.1_Intron|ST3GAL3_ENST00000533933.1_Missense_Mutation_p.E218Q|ST3GAL3_ENST00000531993.1_Missense_Mutation_p.E202Q|ST3GAL3_ENST00000528371.1_Intron|ST3GAL3_ENST00000347631.2_Missense_Mutation_p.E233Q|ST3GAL3_ENST00000372372.2_Missense_Mutation_p.E256Q|ST3GAL3_ENST00000372367.1_Intron|ST3GAL3_ENST00000335430.6_Intron|ST3GAL3_ENST00000372366.1_Intron|ST3GAL3_ENST00000461375.1_3'UTR|ST3GAL3_ENST00000545417.1_Intron|ST3GAL3_ENST00000372377.4_Intron|ST3GAL3_ENST00000351035.3_Missense_Mutation_p.E256Q|ST3GAL3_ENST00000372368.2_Missense_Mutation_p.E272Q|ST3GAL3_ENST00000353126.3_Missense_Mutation_p.E218Q NM_174963.3 NP_777623.2 Q11203 SIAT6_HUMAN ST3 beta-galactoside alpha-2,3-sialyltransferase 3 218 protein glycosylation extracellular region|Golgi cisterna membrane|integral to Golgi membrane N-acetyllactosaminide alpha-2,3-sialyltransferase activity central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(3)|skin(1) 19 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0518) GCAGCGGCCTGAGCAGTACGA 0.542000 4 46 0 0 1 0 0 PDE1B 5153 broad.mit.edu 37 12 54969376 54969376 + Silent SNP C C G TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr12:54969376C>G ENST00000243052.3 + 12 1663 c.1227C>G c.(1225-1227)ctC>ctG p.L409L PPP1R1A_ENST00000547431.1_3'UTR|PDE1B_ENST00000550620.1_Silent_p.L389L|PDE1B_ENST00000538346.1_Silent_p.L368L|PDE1B_ENST00000394277.3_3'UTR NM_000924.3 NP_000915.1 Q01064 PDE1B_HUMAN phosphodiesterase 1B, calmodulin-dependent 409 Catalytic (By similarity). activation of phospholipase C activity|apoptosis|nerve growth factor receptor signaling pathway|platelet activation cytosol|nucleus 3',5'-cyclic-AMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding endometrium(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(4) 31 TTTCTCCACTCTGTGACCGCA 0.572000 4 70 0 0 1 0 0 ZNF845 91664 broad.mit.edu 37 19 53856112 53856112 + Silent SNP C C T TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr19:53856112C>T ENST00000458035.1 + 4 2301 c.2184C>T c.(2182-2184)ttC>ttT p.F728F ZNF845_ENST00000595091.1_Silent_p.F728F NM_138374.1 NP_612383.1 Q96IR2 ZN845_HUMAN zinc finger protein 845 728 Missing (in Ref. 1; BAG58121). regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2) 26 GCAAGGCCTTCAGTCAGAAGT 0.423000 13 133 0 0 1 0 0 PRDM9 56979 broad.mit.edu 37 5 23524554 23524554 + Silent SNP G G T TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr5:23524554G>T ENST00000296682.3 + 10 1244 c.1062G>T c.(1060-1062)ctG>ctT p.L354L NM_020227.2 NP_064612.2 Q9NQV7 PRDM9_HUMAN PR domain containing 9 354 SET. meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleoplasm histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11) 172 GTGAACTGCTGGTCTGGTATG 0.542000 HNSCC(3;0.000094) 10 41 0.000442599 0.000515277 1 1 0 KCNH7 90134 broad.mit.edu 37 2 163250972 163250972 + Silent SNP G G T TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr2:163250972G>T ENST00000332142.5 - 12 2736 c.2637C>A c.(2635-2637)tcC>tcA p.S879S NM_033272.3 NP_150375.2 Q9NS40 KCNH7_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 7 879 regulation of transcription, DNA-dependent integral to membrane protein binding|signal transducer activity NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 108 Ibutilide(DB00308) AATCATTCATGGATTGTGATC 0.323000 6 42 0.000157383 0.000187375 1 1 0 LILRB5 10990 broad.mit.edu 37 19 54754719 54754719 + Missense_Mutation SNP C C A TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr19:54754719C>A ENST00000316219.5 - 13 1811 c.1704G>T c.(1702-1704)gaG>gaT p.E568D LILRB5_ENST00000449561.2_Missense_Mutation_p.E569D|LILRB5_ENST00000450632.1_3'UTR|LILRB5_ENST00000345866.6_Missense_Mutation_p.E469D NM_001081442.1|NM_006840.3 NP_001074911.1|NP_006831.1 O75023 LIRB5_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5 568 cell surface receptor linked signaling pathway|defense response integral to membrane transmembrane receptor activity NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) ATGGAGGAGGCTCAGTTGCCT 0.622000 12 48 6.81908e-15 9.58316e-15 1 1 0 MUC5B 727897 broad.mit.edu 37 11 1272927 1272927 + Missense_Mutation SNP C C G TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr11:1272927C>G ENST00000447027.1 + 31 14884 c.14826C>G c.(14824-14826)ttC>ttG p.F4942L MUC5B_ENST00000529681.1_Missense_Mutation_p.F4939L Q9HC84 MUC5B_HUMAN mucin 5B, oligomeric mucus/gel-forming 4939 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) GCTCCCACTTCTCTACTCCCT 0.582000 3 30 0 0 1 0 0 NOP2 4839 broad.mit.edu 37 12 6666446 6666446 + Missense_Mutation SNP C C T TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr12:6666446C>T ENST00000541778.1 - 16 2628 c.2140G>A c.(2140-2142)Gcc>Acc p.A714T NOP2_ENST00000399466.2_Missense_Mutation_p.A714T|NOP2_ENST00000322166.5_Missense_Mutation_p.A718T|NOP2_ENST00000382421.3_Missense_Mutation_p.A751T|NOP2_ENST00000537442.1_Missense_Mutation_p.A718T|NOP2_ENST00000545200.1_3'UTR|NOP2_ENST00000542015.1_5'UTR P46087 NOP2_HUMAN NOP2 nucleolar protein 718 positive regulation of cell proliferation|rRNA processing nucleolus protein binding|RNA binding|S-adenosylmethionine-dependent methyltransferase activity breast(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|upper_aerodigestive_tract(1) 19 TTGGGAGGGGCATTCTGCCTG 0.522000 40 103 0 0 1 0 0 GNAT2 2780 broad.mit.edu 37 1 110151338 110151338 + Missense_Mutation SNP C C T TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr1:110151338C>T ENST00000351050.3 - 4 562 c.376G>A c.(376-378)Gtc>Atc p.V126I NM_005272.3 NP_005263.1 P19087 GNAT2_HUMAN guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 2 126 detection of chemical stimulus involved in sensory perception of bitter taste|G-protein signaling, coupled to cAMP nucleotide second messenger|rhodopsin mediated phototransduction heterotrimeric G-protein complex|photoreceptor inner segment|photoreceptor outer segment membrane G-protein beta/gamma-subunit complex binding|G-protein coupled photoreceptor activity|G-protein-coupled receptor binding|GTP binding|GTPase activity NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(2)|prostate(1)|upper_aerodigestive_tract(1) 14 all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244) Lung(183;0.0422)|Colorectal(144;0.108)|Epithelial(280;0.125)|all cancers(265;0.129)|LUSC - Lung squamous cell carcinoma(189;0.227) CTCCTAATGACCTCCACGAGC 0.522000 8 46 0 0 1 0 0 FAIM3 9214 broad.mit.edu 37 1 207086276 207086276 + Missense_Mutation SNP C C A TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr1:207086276C>A ENST00000367091.3 - 3 628 c.485G>T c.(484-486)aGa>aTa p.R162I FAIM3_ENST00000420007.2_Missense_Mutation_p.R162I|FAIM3_ENST00000528654.1_Intron|FAIM3_ENST00000442471.2_Missense_Mutation_p.R50I NM_005449.4 NP_005440.1 O60667 FAIM3_HUMAN Fas apoptotic inhibitory molecule 3 162 anti-apoptosis|cellular defense response integral to membrane breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(5)|skin(1)|upper_aerodigestive_tract(1) 15 Breast(84;0.201) GAACTGACCTCTGGTTACGAA 0.493000 OREG0014185 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 8 104 0.000274275 0.000320496 1 1 0 MICAL2 9645 broad.mit.edu 37 11 12247760 12247760 + Silent SNP C C T TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr11:12247760C>T ENST00000256194.4 + 14 2019 c.1731C>T c.(1729-1731)aaC>aaT p.N577N MICAL2_ENST00000379612.3_Silent_p.N577N|MICAL2_ENST00000342902.5_Silent_p.N577N|MICAL2_ENST00000537344.1_Silent_p.N577N|MICAL2_ENST00000527546.1_Silent_p.N577N NM_001282663.1|NM_014632.2 NP_001269592.1|NP_055447.1 O94851 MICA2_HUMAN microtubule associated monooxygenase, calponin and LIM domain containing 2 577 CH. cytoplasm|cytoskeleton monooxygenase activity|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 47 Epithelial(150;0.00552) TGGAGAACAACCAGCTCGCAT 0.522000 6 86 0 0 1 0 0 GPRASP2 114928 broad.mit.edu 37 X 101970156 101970156 + Missense_Mutation SNP C C T TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chrX:101970156C>T ENST00000543253.1 + 5 1278 c.359C>T c.(358-360)gCa>gTa p.A120V GPRASP2_ENST00000535209.1_Missense_Mutation_p.A120V|GPRASP2_ENST00000332262.5_Missense_Mutation_p.A120V NM_001004051.3|NM_001184874.2|NM_001184876.2 NP_001004051.1|NP_001171803.1|NP_001171805.1 G protein-coupled receptor associated sorting protein 2 breast(3)|endometrium(5)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|upper_aerodigestive_tract(1) 30 ATCCCTGGAGCAAGGCCCAAG 0.572000 17 94 0 0 1 0 0 POLR3C 10623 broad.mit.edu 37 1 145594100 145594100 + Missense_Mutation SNP C C G TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr1:145594100C>G ENST00000334163.3 - 14 1622 c.1462G>C c.(1462-1464)Gag>Cag p.E488Q POLR3C_ENST00000369294.1_Intron NM_006468.6 NP_006459.3 Q9BUI4 RPC3_HUMAN polymerase (RNA) III (DNA directed) polypeptide C (62kD) 488 innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|regulation of transcription from RNA polymerase III promoter|response to virus DNA-directed RNA polymerase III complex DNA binding|DNA-directed RNA polymerase activity breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) Epithelial(2;7.55e-13) ATCATCTCCTCTATTTCTTGT 0.438000 11 109 0 0 1 0 0 RAB6A 5870 broad.mit.edu 37 11 73388981 73388981 + Missense_Mutation SNP G G C TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr11:73388981G>C ENST00000310653.6 - 8 1090 c.589C>G c.(589-591)Cag>Gag p.Q197E RAB6A_ENST00000336083.3_Missense_Mutation_p.Q197E|RAB6A_ENST00000541588.1_Missense_Mutation_p.Q93E|RAB6A_ENST00000536566.1_Missense_Mutation_p.Q164E NM_001077637.1|NM_002869.4 NP_001071105.1|NP_002860.2 P20340 RAB6A_HUMAN RAB6A, member RAS oncogene family 197 minus-end-directed organelle transport along microtubule|peptidyl-cysteine methylation|protein targeting to Golgi|retrograde vesicle-mediated transport, Golgi to ER|small GTPase mediated signal transduction cytoplasmic vesicle|cytosol|Golgi membrane|trans-Golgi network GTP binding|GTPase activity|protein domain specific binding large_intestine(2)|lung(2) 4 GGTTGCTCCTGAGGCTTTTCC 0.418000 14 53 0 0 1 0 0 TAF3 83860 broad.mit.edu 37 10 8006521 8006521 + Missense_Mutation SNP G G A TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr10:8006521G>A ENST00000344293.5 + 3 1254 c.1048G>A c.(1048-1050)Gaa>Aaa p.E350K NM_031923.3 NP_114129.1 Q5VWG9 TAF3_HUMAN TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140kDa 350 maintenance of protein location in nucleus|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent transcription factor TFIID complex protein binding|zinc ion binding NS(2)|breast(4)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(3)|prostate(4)|skin(2) 40 TACACTCAGTGAAAAAATCAG 0.498000 4 24 0 0 1 0 0 SIPA1L2 57568 broad.mit.edu 37 1 232629405 232629405 + Splice_Site SNP C C T TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr1:232629405C>T ENST00000366630.1 - 3 1843 c.1485G>A c.(1483-1485)gaG>gaA p.E495E SIPA1L2_ENST00000262861.4_Splice_Site_p.E495E|SIPA1L2_ENST00000486472.1_5'UTR Q9P2F8 SI1L2_HUMAN signal-induced proliferation-associated 1 like 2 495 regulation of small GTPase mediated signal transduction intracellular GTPase activator activity NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 103 all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186) AGTTTTGGTGCTCTATAATGG 0.423000 13 105 0 0 1 0 0 UBA2 10054 broad.mit.edu 37 19 34942884 34942884 + Splice_Site SNP A A C TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr19:34942884A>C ENST00000439527.2 + 10 1081 c.e10-1 UBA2_ENST00000246548.4_Splice_Site Q9UBT2 SAE2_HUMAN ubiquitin-like modifier activating enzyme 2 protein sumoylation nucleus ATP binding|enzyme activator activity|ligase activity|metal ion binding|protein heterodimerization activity|SUMO activating enzyme activity breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|upper_aerodigestive_tract(1) 20 Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.211) TTTTTTCTTTAGGAGAAGAAA 0.348000 10 31 0 0 1 0 0 LAMA1 284217 broad.mit.edu 37 18 7040173 7040173 + Missense_Mutation SNP G G T TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr18:7040173G>T ENST00000389658.3 - 10 1417 c.1324C>A c.(1324-1326)Caa>Aaa p.Q442K NM_005559.3 NP_005550.2 P25391 LAMA1_HUMAN laminin, alpha 1 442 Laminin EGF-like 3. axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development extracellular space|laminin-1 complex|laminin-3 complex extracellular matrix structural constituent|receptor binding NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3) 205 Colorectal(10;0.172) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) TAGCCAAGTTGGCAGCGATCA 0.522000 3 35 0.004672 0.00517199 1 1 0 VAC14 55697 broad.mit.edu 37 16 70796924 70796924 + Missense_Mutation SNP C C T TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr16:70796924C>T ENST00000261776.5 - 11 1425 c.1165G>A c.(1165-1167)Gaa>Aaa p.E389K VAC14-AS1_ENST00000398177.1_RNA|VAC14-AS1_ENST00000562507.1_RNA NM_018052.3 NP_060522.3 Q08AM6 VAC14_HUMAN Vac14 homolog (S. cerevisiae) 389 interspecies interaction between organisms endoplasmic reticulum|endosome membrane|microsome protein binding|receptor activity breast(2)|endometrium(2)|kidney(10)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 33 Ovarian(137;0.0699) GGGGCTCTTTCAGTGCTGTGG 0.587000 3 17 0 0 1 0 0 CAMK1D 57118 broad.mit.edu 37 10 12856259 12856259 + Missense_Mutation SNP C C T TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr10:12856259C>T ENST00000378847.3 + 7 1044 c.707C>T c.(706-708)gCg>gTg p.A236V CAMK1D_ENST00000378845.1_Missense_Mutation_p.A236V NM_153498.2 NP_705718.1 Q8IU85 KCC1D_HUMAN calcium/calmodulin-dependent protein kinase ID 236 Protein kinase. calcium- and calmodulin-dependent protein kinase complex|cytoplasm|nucleus ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1) 16 GBM - Glioblastoma multiforme(1;3.16e-05) ATCCTCAAGGCGGAATATGAG 0.522000 6 46 0 0 1 0 0 HEATR6 63897 broad.mit.edu 37 17 58121446 58121446 + Silent SNP C C A TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr17:58121446C>A ENST00000184956.6 - 20 3040 c.3024G>T c.(3022-3024)gtG>gtT p.V1008V HEATR6_ENST00000585976.1_Silent_p.V896V NM_022070.4 NP_071353.4 Q6AI08 HEAT6_HUMAN HEAT repeat containing 6 1008 binding NS(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 44 all_cancers(5;2.25e-13)|Breast(5;4.84e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922) BRCA - Breast invasive adenocarcinoma(1;5.93e-19)|Epithelial(12;7.59e-12)|all cancers(12;1.26e-10) TGCATGATGTCACGACCGATG 0.532000 4 70 0.00909568 0.00992971 1 1 0 EHBP1 23301 broad.mit.edu 37 2 63176055 63176055 + Missense_Mutation SNP G G T TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr2:63176055G>T ENST00000263991.5 + 14 2661 c.2179G>T c.(2179-2181)Gac>Tac p.D727Y EHBP1_ENST00000405015.3_Missense_Mutation_p.D692Y|EHBP1_ENST00000354487.3_Missense_Mutation_p.D692Y|EHBP1_ENST00000405289.1_Missense_Mutation_p.D692Y|EHBP1_ENST00000431489.1_Missense_Mutation_p.D692Y NM_015252.3 NP_056067.2 Q8NDI1 EHBP1_HUMAN EH domain binding protein 1 727 cytoplasm|membrane biliary_tract(1)|breast(3)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(22)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 47 Lung NSC(7;0.0951)|all_lung(7;0.169) LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189) TCAAACTCTAGACATCGGTAG 0.353000 4 40 0.184627 0.188511 1 1 0 RP11-146E13.4 0 broad.mit.edu 37 14 19857036 19857036 + RNA SNP A A G TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr14:19857036A>G ENST00000548109.1 + 0 72 CTGGATAATAAAGTTCATCTC 0.373000 9 43 0 0 1 0 0 OR8G1 26494 broad.mit.edu 37 11 124120565 124120565 + RNA SNP T T C TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr11:124120565T>C ENST00000341493.2 + 0 143 OR8G1_ENST00000534473.2_RNA NM_001002905.1 NP_001002905.1 Q15617 OR8G1_HUMAN olfactory receptor, family 8, subfamily G, member 1 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity Breast(109;0.0157)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;5.28e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0569)|Lung(307;0.174) ATGACCACACTGATTTGGCTC 0.522000 6 69 0 0 1 0 0 CNIH2 254263 broad.mit.edu 37 11 66050541 66050541 + Missense_Mutation SNP C C G TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr11:66050541C>G ENST00000528852.1 + 4 501 c.234C>G c.(232-234)ttC>ttG p.F78L CNIH2_ENST00000311445.6_Missense_Mutation_p.F78L|CNIH2_ENST00000530519.1_3'UTR Q6PI25 CNIH2_HUMAN cornichon family AMPA receptor auxiliary protein 2 78 intracellular signal transduction|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic shaft|dendritic spine|endoplasmic reticulum membrane|postsynaptic density|postsynaptic membrane protein binding endometrium(1)|large_intestine(1)|lung(2)|prostate(1) 5 ACGGCCTCTTCTGTCTGATGT 0.602000 OREG0021100 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 11 71 0 0 1 0 0 TRIM38 10475 broad.mit.edu 37 6 25966926 25966926 + Missense_Mutation SNP G G C TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr6:25966926G>C ENST00000357085.3 + 3 652 c.176G>C c.(175-177)tGt>tCt p.C59S TRIM38_ENST00000349458.3_Missense_Mutation_p.C59S NM_006355.3 NP_006346.1 O00635 TRI38_HUMAN tripartite motif containing 38 59 positive regulation of I-kappaB kinase/NF-kappaB cascade intracellular signal transducer activity|zinc ion binding breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2) 23 ACATTCTGCTGTCCCCAGTGT 0.488000 8 31 0 0 1 0 0 ARHGEF12 23365 broad.mit.edu 37 11 120317777 120317777 + Silent SNP C C A TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr11:120317777C>A ENST00000397843.2 + 18 1738 c.1572C>A c.(1570-1572)gcC>gcA p.A524A ARHGEF12_ENST00000532993.1_Silent_p.A421A|ARHGEF12_ENST00000356641.3_Silent_p.A505A NM_015313.2 NP_056128.1 Q9NZN5 ARHGC_HUMAN Rho guanine nucleotide exchange factor (GEF) 12 524 RGSL. apoptosis|axon guidance|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|membrane G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2) 61 Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231) AGATTGTTGCCAAAATTGAAG 0.428000 T MLL AML 12 75 9.31168e-06 1.17985e-05 1 1 0 BRS3 680 broad.mit.edu 37 X 135570547 135570547 + Missense_Mutation SNP G G A TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chrX:135570547G>A ENST00000370648.3 + 1 502 c.274G>A c.(274-276)Gga>Aga p.G92R NM_001727.1 NP_001718.1 P32247 BRS3_HUMAN bombesin-like receptor 3 92 adult feeding behavior|glucose metabolic process|regulation of blood pressure integral to membrane|plasma membrane bombesin receptor activity endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|pancreas(1)|prostate(1) 23 Acute lymphoblastic leukemia(192;0.000127) CCTGGCTTTTGGAGATCTTTT 0.423000 4 112 0 0 1 0 0 CTNNBL1 56259 broad.mit.edu 37 20 36468584 36468584 + Missense_Mutation SNP G G A TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr20:36468584G>A ENST00000405275.2 + 13 1456 c.1213G>A c.(1213-1215)Gaa>Aaa p.E405K CTNNBL1_ENST00000373469.1_Missense_Mutation_p.E180K|CTNNBL1_ENST00000373473.1_Missense_Mutation_p.E245K|CTNNBL1_ENST00000473857.1_3'UTR|CTNNBL1_ENST00000361383.6_Missense_Mutation_p.E432K NM_001281495.1 NP_001268424.1 Q8WYA6 CTBL1_HUMAN catenin, beta like 1 432 apoptosis|positive regulation of apoptosis|somatic diversification of immunoglobulins nucleus enzyme binding autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(6)|lung(6)|ovary(3)|urinary_tract(1) 28 Myeloproliferative disorder(115;0.00878) TAAATTCACTGAAAATGACAG 0.512000 4 15 0 0 1 0 0 ATP8B1 5205 broad.mit.edu 37 18 55364879 55364879 + Silent SNP G G C TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr18:55364879G>C ENST00000536015.1 - 8 788 c.669C>G c.(667-669)ctC>ctG p.L223L ATP8B1_ENST00000283684.4_Silent_p.L223L|RP11-35G9.3_ENST00000599199.1_RNA|RP11-35G9.5_ENST00000588925.1_RNA NM_005603.4 NP_005594 O43520 AT8B1_HUMAN ATPase, aminophospholipid transporter, class I, type 8B, member 1 223 ATP biosynthetic process|bile acid and bile salt transport|negative regulation of transcription, DNA-dependent apical plasma membrane|integral to plasma membrane|membrane fraction ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity breast(6)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(19)|ovary(3)|prostate(1) 53 Colorectal(73;0.229) CCACATAGCAGAGGCTGTTAG 0.502000 5 70 0 0 1 0 0 DSG4 147409 broad.mit.edu 37 18 28983466 28983466 + Missense_Mutation SNP G G A TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr18:28983466G>A ENST00000359747.4 + 11 1534 c.1505G>A c.(1504-1506)aGa>aAa p.R502K RP11-534N16.1_ENST00000578477.1_RNA|RP11-534N16.1_ENST00000581856.1_RNA|DSG4_ENST00000308128.4_Missense_Mutation_p.R502K NM_001134453.1 NP_001127925.1 Q86SJ6 DSG4_HUMAN desmoglein 4 502 homophilic cell adhesion desmosome|integral to membrane calcium ion binding NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1) 70 OV - Ovarian serous cystadenocarcinoma(10;0.00504) CCTGAAAGAAGAACCATCTGC 0.388000 4 49 0 0 1 0 0 DNA2 1763 broad.mit.edu 37 10 70179627 70179627 + Missense_Mutation SNP T T C TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr10:70179627T>C ENST00000399180.2 - 18 2977 c.2978A>G c.(2977-2979)gAa>gGa p.E993G DNA2_ENST00000399179.2_Missense_Mutation_p.E669G|DNA2_ENST00000358410.3_Missense_Mutation_p.E907G P51530 DNA2L_HUMAN DNA replication helicase/nuclease 2 907 base-excision repair|DNA replication, removal of RNA primer|mitochondrial DNA repair|mitochondrial DNA replication|positive regulation of DNA replication|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication mitochondrial nucleoid|nucleoplasm 5'-flap endonuclease activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|site-specific endodeoxyribonuclease activity, specific for altered base breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(7)|prostate(1) 20 ACCACCTTTTTCAACTTGTTC 0.363000 12 94 0 0 1 0 0 C10orf118 55088 broad.mit.edu 37 10 115895667 115895667 + Silent SNP T T G TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr10:115895667T>G ENST00000369287.3 - 9 1761 c.1495A>C c.(1495-1497)Aga>Cga p.R499R C10orf118_ENST00000543782.1_Silent_p.R97R NM_018017.2 NP_060487.2 Q7Z3E2 CJ118_HUMAN chromosome 10 open reading frame 118 499 NS(1)|autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(2) 24 Colorectal(252;0.172)|Breast(234;0.188) Epithelial(162;0.0161)|all cancers(201;0.0397) CTCAGTGTTCTTAACTCATCC 0.323000 4 36 0 0 1 0 0 FSCB 84075 broad.mit.edu 37 14 44975854 44975854 + Missense_Mutation SNP G G C TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr14:44975854G>C ENST00000340446.4 - 1 628 c.337C>G c.(337-339)Cag>Gag p.Q113E NM_032135.3 NP_115511.3 Q5H9T9 FSCB_HUMAN fibrous sheath CABYR binding protein 113 cilium breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1) 89 GBM - Glioblastoma multiforme(112;0.128) TCTACATCCTGAACACTCTCT 0.423000 11 140 0 0 1 0 0 SYNE2 23224 broad.mit.edu 37 14 64596563 64596563 + Missense_Mutation SNP G G A TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr14:64596563G>A ENST00000357395.3 + 76 14382 c.3238G>A c.(3238-3240)Gaa>Aaa p.E1080K SYNE2_ENST00000555002.1_Missense_Mutation_p.E1329K|SYNE2_ENST00000358025.3_Missense_Mutation_p.E4695K|SYNE2_ENST00000554584.1_Missense_Mutation_p.E4612K|SYNE2_ENST00000394768.2_Missense_Mutation_p.E1080K|SYNE2_ENST00000344113.4_Missense_Mutation_p.E4695K|ESR2_ENST00000542956.1_Intron Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 4695 centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc actin binding|protein binding p.E4695K(1) NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4) 224 all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681) ACTAAGAGATGAAGGGGAGAG 0.443000 4 33 0 0 1 0 0 BAZ1A 11177 broad.mit.edu 37 14 35276671 35276671 + Missense_Mutation SNP C C T TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr14:35276671C>T ENST00000360310.1 - 6 1279 c.712G>A c.(712-714)Gtc>Atc p.V238I BAZ1A_ENST00000358716.4_Missense_Mutation_p.V238I|BAZ1A_ENST00000382422.2_Missense_Mutation_p.V238I NM_013448.2 NP_038476.2 Q9NRL2 BAZ1A_HUMAN bromodomain adjacent to zinc finger domain, 1A 238 chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent ACF complex zinc ion binding breast(2)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(2)|large_intestine(7)|lung(19)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 Breast(36;0.0388)|Hepatocellular(127;0.158) LUAD - Lung adenocarcinoma(48;7.23e-05)|Lung(238;0.00019)|Epithelial(34;0.0793)|all cancers(34;0.175) GBM - Glioblastoma multiforme(112;0.0659) ATTTTAATGACTCCATCTTGT 0.333000 5 28 0 0 1 0 0 CETN2 1069 broad.mit.edu 37 X 151997170 151997170 + Missense_Mutation SNP C C A TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chrX:151997170C>A ENST00000370277.3 - 4 406 c.340G>T c.(340-342)Gat>Tat p.D114Y CETN2_ENST00000493482.1_5'UTR NM_004344.1 NP_004335.1 P41208 CETN2_HUMAN centrin, EF-hand protein, 2 114 EF-hand 3. cell division|centriole replication|G2/M transition of mitotic cell cycle|mitosis|nucleotide-excision repair|regulation of cytokinesis centriole|cytosol|XPC complex ATP binding|ATP-dependent helicase activity|calcium ion binding|nucleic acid binding breast(1)|lung(4)|prostate(1)|skin(1) 7 Acute lymphoblastic leukemia(192;6.56e-05) TCATCATCATCAAAGAGCTTG 0.423000 Direct reversal of damage;Nucleotide excision repair (NER) 5 86 0.184627 0.188511 1 1 0 PHF20 51230 broad.mit.edu 37 20 34389511 34389511 + Missense_Mutation SNP G G T TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr20:34389511G>T ENST00000374012.3 + 2 196 c.67G>T c.(67-69)Gac>Tac p.D23Y PHF20_ENST00000439301.1_Missense_Mutation_p.D23Y|PHF20_ENST00000481202.1_3'UTR Q9BVI0 PHF20_HUMAN PHD finger protein 20 23 regulation of transcription, DNA-dependent|transcription, DNA-dependent MLL1 complex DNA binding|zinc ion binding breast(5)|endometrium(1)|kidney(7)|large_intestine(6)|lung(11)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 Breast(12;0.00631)|all_lung(11;0.0145) GGAAGCCCGGGACCGTTTAAA 0.428000 5 36 0.0215528 0.0229339 1 1 0 MCRS1 10445 broad.mit.edu 37 12 49952692 49952692 + Missense_Mutation SNP G G C TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr12:49952692G>C ENST00000550165.1 - 15 1502 c.1236C>G c.(1234-1236)atC>atG p.I412M MCRS1_ENST00000546244.1_Missense_Mutation_p.I221M|MCRS1_ENST00000357123.4_Missense_Mutation_p.I425M|MCRS1_ENST00000343810.4_Missense_Mutation_p.I412M|MCRS1_ENST00000547182.1_5'UTR Q96EZ8 MCRS1_HUMAN microspherule protein 1 412 FHA. DNA recombination|DNA repair|protein modification process|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|Ino80 complex|MLL1 complex|nucleolus protein binding breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11) 23 CATCGATGTAGATGGGCCGTC 0.557000 3 31 0 0 1 0 0 ZNF474 133923 broad.mit.edu 37 5 121488307 121488307 + Missense_Mutation SNP C C A TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr5:121488307C>A ENST00000296600.4 + 2 1005 c.622C>A c.(622-624)Ctc>Atc p.L208I ZNF474_ENST00000514925.1_Intron|CTC-441N14.2_ENST00000504829.1_RNA NM_207317.1 NP_997200.1 Q6S9Z5 ZN474_HUMAN zinc finger protein 474 208 intracellular zinc ion binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|stomach(1) 21 all_cancers(142;0.229)|Prostate(80;0.0387) KIRC - Kidney renal clear cell carcinoma(527;0.206) OV - Ovarian serous cystadenocarcinoma(64;0.000197)|Epithelial(69;0.00029)|all cancers(49;0.00415) TCTTACTGGCCTCAAGAAAGC 0.488000 7 41 0.00198382 0.00223934 1 1 0 MIR521-1 574494 broad.mit.edu 37 19 54251917 54251917 + RNA SNP G G A TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr19:54251917G>A ENST00000384902.1 + 0 28 NR_030216.1 CCAAAGGGAAGAACTTTCTGT 0.398000 6 140 0 0 1 0 0 IFT81 28981 broad.mit.edu 37 12 110600850 110600850 + Missense_Mutation SNP G G A TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr12:110600850G>A ENST00000242591.5 + 11 1674 c.1168G>A c.(1168-1170)Gaa>Aaa p.E390K IFT81_ENST00000361948.4_Missense_Mutation_p.E390K|IFT81_ENST00000552912.1_Missense_Mutation_p.E390K NM_014055.3 NP_054774.2 Q8WYA0 IFT81_HUMAN intraflagellar transport 81 homolog (Chlamydomonas) 390 cell differentiation|multicellular organismal development|spermatogenesis intraflagellar transport particle B|microtubule-based flagellum endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|stomach(1) 10 TGATGGTACTGAAGTTTTAAA 0.423000 8 61 0 0 1 0 0 OGDH 4967 broad.mit.edu 37 7 44736996 44736996 + Missense_Mutation SNP G G C TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr7:44736996G>C ENST00000222673.5 + 16 2121 c.2079G>C c.(2077-2079)caG>caC p.Q693H OGDH_ENST00000449767.1_Missense_Mutation_p.Q689H|OGDH_ENST00000444676.1_Missense_Mutation_p.Q708H|OGDH_ENST00000439616.2_Missense_Mutation_p.Q543H|OGDH_ENST00000543843.1_Missense_Mutation_p.Q644H|OGDH_ENST00000447398.1_Missense_Mutation_p.Q704H NM_002541.3 NP_002532.2 Q02218 ODO1_HUMAN oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide) 693 glycolysis|lysine catabolic process|tricarboxylic acid cycle mitochondrial matrix|mitochondrial membrane oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4) 36 NADH(DB00157) TCCATGACCAGAATGTGGACA 0.542000 8 42 0 0 1 0 0 SPON1 10418 broad.mit.edu 37 11 14280960 14280960 + RNA SNP G G A TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr11:14280960G>A ENST00000310358.7 + 0 2162 Q9HCB6 SPON1_HUMAN spondin 1, extracellular matrix protein cell adhesion extracellular space|proteinaceous extracellular matrix protein binding NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1) 21 Epithelial(150;0.00898) GCTGCCCACTGAGGAAACGGA 0.672000 3 10 0 0 1 0 0 CLHC1 130162 broad.mit.edu 37 2 55407846 55407846 + Missense_Mutation SNP A A T TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr2:55407846A>T ENST00000401408.1 - 11 1529 c.1184T>A c.(1183-1185)cTg>cAg p.L395Q CLHC1_ENST00000406076.1_Missense_Mutation_p.L273Q|CLHC1_ENST00000494539.1_Intron|CLHC1_ENST00000406437.2_5'UTR|CLHC1_ENST00000407122.1_Missense_Mutation_p.L395Q NM_152385.2 NP_689598.2 clathrin heavy chain linker domain containing 1 AGAAAATGTCAGTCTAGAACA 0.408000 5 30 0 0 1 0 0 KRTAP5-3 387266 broad.mit.edu 37 11 1629430 1629430 + Silent SNP G G T TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr11:1629430G>T ENST00000399685.1 - 1 263 c.186C>A c.(184-186)ggC>ggA p.G62G NM_001012708.2 NP_001012726.1 Q6L8H2 KRA53_HUMAN keratin associated protein 5-3 62 11 X 4 AA repeats of C-C-X-P. keratin filament endometrium(1)|large_intestine(2)|lung(3)|ovary(2) 8 all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.000618)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822) CCCCCTTGGAGCCCCCACAGG 0.677000 6 142 0.00198382 0.00223934 1 1 0 LRFN5 145581 broad.mit.edu 37 14 42355984 42355984 + Missense_Mutation SNP A A T TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr14:42355984A>T ENST00000554171.1 + 5 2588 c.156A>T c.(154-156)agA>agT p.R52S LRFN5_ENST00000554120.1_Missense_Mutation_p.R52S|LRFN5_ENST00000298119.4_Missense_Mutation_p.R52S Q96NI6 LRFN5_HUMAN leucine rich repeat and fibronectin type III domain containing 5 52 integral to membrane breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2) 120 LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728) GBM - Glioblastoma multiforme(112;0.00847) TTGACAGAAGAACTGTGGAAC 0.408000 HNSCC(30;0.082) 4 46 0 0 1 0 0 PHF20 51230 broad.mit.edu 37 20 34459028 34459028 + Silent SNP G G C rs139792522 TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr20:34459028G>C ENST00000374012.3 + 8 1203 c.1074G>C c.(1072-1074)acG>acC p.T358T PHF20_ENST00000439301.1_3'UTR|PHF20_ENST00000481202.1_3'UTR Q9BVI0 PHF20_HUMAN PHD finger protein 20 358 regulation of transcription, DNA-dependent|transcription, DNA-dependent MLL1 complex DNA binding|zinc ion binding breast(5)|endometrium(1)|kidney(7)|large_intestine(6)|lung(11)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 Breast(12;0.00631)|all_lung(11;0.0145) TGCAAGACACGTTGTCTAGTA 0.438000 11 85 0 0 1 0 0 FOCAD 54914 broad.mit.edu 37 9 20929356 20929356 + Splice_Site SNP G G A TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr9:20929356G>A ENST00000380249.1 + 29 3442 c.e29-1 FOCAD_ENST00000605086.1_Splice_Site|FOCAD_ENST00000338382.6_Splice_Site NM_017794.3 NP_060264.3 Q5VW36 K1797_HUMAN focadhesin integral to membrane binding GCATGTCCTAGAAGTCCTATT 0.443000 23 56 0 0 1 0 0 RBP7 116362 broad.mit.edu 37 1 10068239 10068239 + Silent SNP T T C TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr1:10068239T>C ENST00000294435.7 + 3 304 c.261T>C c.(259-261)gtT>gtC p.V87V NM_052960.2 NP_443192.1 Q96R05 RET7_HUMAN retinol binding protein 7, cellular 87 cytoplasm retinal binding|retinol binding|transporter activity endometrium(1)|large_intestine(1) 2 all_lung(284;0.000407)|Renal(390;0.000469)|Lung NSC(185;0.000577)|Colorectal(325;0.0062)|Breast(348;0.00686)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.5e-08)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;0.000249)|BRCA - Breast invasive adenocarcinoma(304;0.000302)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00856)|READ - Rectum adenocarcinoma(331;0.0419) Vitamin A(DB00162) AGAGTTTGGTTATCTGGGACA 0.463000 4 53 0 0 1 0 0 SHPRH 257218 broad.mit.edu 37 6 146275900 146275900 + Missense_Mutation SNP C C G TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr6:146275900C>G ENST00000367503.3 - 2 957 c.559G>C c.(559-561)Gaa>Caa p.E187Q SHPRH_ENST00000367505.2_Missense_Mutation_p.E187Q|SHPRH_ENST00000275233.7_Missense_Mutation_p.E187Q|SHPRH_ENST00000438092.2_Missense_Mutation_p.E187Q NM_001042683.2 NP_001036148.2 Q149N8 SHPRH_HUMAN SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase 187 DNA repair|nucleosome assembly nucleosome|nucleus ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1) 79 Ovarian(120;0.0365) OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124) CCCAAATCTTCTAACATTTCA 0.363000 5 69 0 0 1 0 0 CALB1 793 broad.mit.edu 37 8 91078188 91078188 + Missense_Mutation SNP G G T TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr8:91078188G>T ENST00000265431.3 - 6 569 c.388C>A c.(388-390)Ctg>Atg p.L130M CALB1_ENST00000518457.1_Missense_Mutation_p.L73M NM_004929.2 NP_004920.1 P05937 CALB1_HUMAN calbindin 1, 28kDa 130 EF-hand 3. nucleus calcium ion binding|vitamin D binding breast(1)|kidney(1)|lung(8)|pancreas(1) 11 BRCA - Breast invasive adenocarcinoma(11;0.00953) TTTTCTAGCAGGTCCTTTAGA 0.343000 3 26 0.00024832 0.000293427 1 1 0 SYNM 23336 broad.mit.edu 37 15 99669683 99669683 + Missense_Mutation SNP C C T TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr15:99669683C>T ENST00000336292.6 + 5 1235 c.1115C>T c.(1114-1116)gCa>gTa p.A372V SYNM_ENST00000328642.7_Missense_Mutation_p.A372V|RP11-6O2.4_ENST00000566974.1_RNA|SYNM_ENST00000561323.1_3'UTR|SYNM_ENST00000560674.1_Missense_Mutation_p.A87V NM_145728.2 NP_663780.2 O15061 SYNEM_HUMAN synemin, intermediate filament protein 373 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 CACAGCTCGGCACTGTATTCT 0.473000 16 104 0 0 1 0 0 EMC8 10328 broad.mit.edu 37 16 85813424 85813424 + Missense_Mutation SNP G G T TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr16:85813424G>T ENST00000253457.3 - 5 767 c.523C>A c.(523-525)Ctg>Atg p.L175M EMC8_ENST00000435200.2_3'UTR NM_006067.4 NP_006058.1 ER membrane protein complex subunit 8 CGGCTGTCCAGGAGCGAGGCT 0.517000 4 28 0.150653 0.155077 1 1 0 DNM2 1785 broad.mit.edu 37 19 10883304 10883304 + Splice_Site SNP G G A TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr19:10883304G>A ENST00000314646.5 + 3 549 c.385G>A c.(385-387)Gtg>Atg p.V129M DNM2_ENST00000389253.4_Splice_Site_p.V129M|DNM2_ENST00000359692.6_Splice_Site_p.V129M|DNM2_ENST00000408974.4_Splice_Site_p.V129M|DNM2_ENST00000585892.1_Splice_Site_p.V129M|DNM2_ENST00000355667.6_Splice_Site_p.V129M|DNM2_ENST00000591819.1_3'UTR P50570 DYN2_HUMAN dynamin 2 129 G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport cell junction|cytosol|Golgi membrane|microtubule|postsynaptic density|postsynaptic membrane GTP binding|GTPase activity|microtubule binding breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2) 42 Epithelial(33;4.17e-05)|all cancers(31;8.48e-05) CTCGCCACACGGTAGGCAGCA 0.572000 """F, N, Splice, Mis, O""" ETP ALL 9 47 0 0 1 0 0 SCAI 286205 broad.mit.edu 37 9 127790711 127790711 + Missense_Mutation SNP C C G TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr9:127790711C>G ENST00000336505.6 - 5 431 c.373G>C c.(373-375)Gaa>Caa p.E125Q SCAI_ENST00000373549.4_Missense_Mutation_p.E148Q NM_001144877.2 NP_001138349.1 Q8N9R8 SCAI_HUMAN suppressor of cancer cell invasion Necessary to inhibit MKL1-induced SRF transcriptional activity (By similarity).|Required for interaction with MKL1 (By similarity). negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|integral to membrane|nucleus protein binding|transcription corepressor activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(7)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(5)|stomach(1)|urinary_tract(1) 35 GAAGCAATTTCTCCTATTTGC 0.338000 8 78 0 0 1 0 0 KIDINS220 57498 broad.mit.edu 37 2 8888031 8888031 + Missense_Mutation SNP G G C TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr2:8888031G>C ENST00000256707.3 - 25 3695 c.3514C>G c.(3514-3516)Cag>Gag p.Q1172E KIDINS220_ENST00000473731.1_Missense_Mutation_p.Q1172E|KIDINS220_ENST00000427284.1_Missense_Mutation_p.Q1172E|KIDINS220_ENST00000418530.1_Intron NM_020738.2 NP_065789.1 Q9ULH0 KDIS_HUMAN kinase D-interacting substrate, 220kDa 1172 activation of MAPKK activity|nerve growth factor receptor signaling pathway cytosol|integral to membrane NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 60 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) CCATTGTTCTGATCTCTGGGC 0.388000 9 39 0 0 1 0 0 DHX58 79132 broad.mit.edu 37 17 40255715 40255715 + Silent SNP G G C TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr17:40255715G>C ENST00000251642.3 - 12 1887 c.1665C>G c.(1663-1665)ctC>ctG p.L555L NM_024119.2 NP_077024.2 Q96C10 DHX58_HUMAN DEXH (Asp-Glu-X-His) box polypeptide 58 555 innate immune response cytoplasm ATP binding|DNA binding|helicase activity|protein binding|RNA binding|zinc ion binding breast(2)|endometrium(3)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 all_cancers(22;9.73e-07)|all_epithelial(22;3.58e-05)|Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.126) AGTTGATGCAGAGTAGCTGCA 0.637000 5 33 0 0 1 0 0 F8 2157 broad.mit.edu 37 X 154227852 154227852 + Missense_Mutation SNP G G C TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chrX:154227852G>C ENST00000360256.4 - 2 367 c.167C>G c.(166-168)tCt>tGt p.S56C NM_000132.3 NP_000123.1 P00451 FA8_HUMAN coagulation factor VIII, procoagulant component 56 F5/8 type A 1.|Plastocyanin-like 1. acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation extracellular space|plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity|protein binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2) 120 all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055) GAATGGAAAAGATTTTGGCAC 0.433000 18 106 0 0 1 0 0 SZT2 23334 broad.mit.edu 37 1 43881758 43881758 + Missense_Mutation SNP C C T TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr1:43881758C>T ENST00000562955.1 + 6 758 c.758C>T c.(757-759)tCg>tTg p.S253L NM_015284.3 NP_056099.3 Q5T011 SZT2_HUMAN seizure threshold 2 homolog (mouse) 253 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 TTACTACCCTCGAACTCTAGT 0.542000 3 23 0 0 1 0 0 NGEF 25791 broad.mit.edu 37 2 233759485 233759485 + Missense_Mutation SNP C C A TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr2:233759485C>A ENST00000264051.3 - 6 1248 c.970G>T c.(970-972)Gtg>Ttg p.V324L NGEF_ENST00000409079.1_Missense_Mutation_p.V232L|NGEF_ENST00000539537.1_Missense_Mutation_p.V47L|NGEF_ENST00000373552.4_Missense_Mutation_p.V232L NM_019850.2 NP_062824.2 Q8N5V2 NGEF_HUMAN neuronal guanine nucleotide exchange factor 324 DH. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|growth cone|plasma membrane Rho guanyl-nucleotide exchange factor activity central_nervous_system(4)|endometrium(8)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|skin(4) 35 Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.00793)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839) Epithelial(121;8.65e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(119;0.00984)|GBM - Glioblastoma multiforme(43;0.0604) ACAGCCAGCACGTCCAGGACG 0.602000 7 29 0.00198382 0.00223934 1 1 0 ZNF304 57343 broad.mit.edu 37 19 57867966 57867966 + Missense_Mutation SNP G G A TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr19:57867966G>A ENST00000391705.3 + 4 1013 c.729G>A c.(727-729)atG>atA p.M243I ZNF304_ENST00000282286.5_Missense_Mutation_p.M243I|ZNF304_ENST00000598744.1_Missense_Mutation_p.M201I|ZNF304_ENST00000443917.2_Missense_Mutation_p.M290I NM_020657.2 NP_065708.2 Q9HCX3 ZN304_HUMAN zinc finger protein 304 243 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1) 26 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265) ACAGCCAGATGACTCATGCTG 0.453000 7 56 0 0 1 0 0 LINC00922 283867 broad.mit.edu 37 16 65345320 65345320 + RNA SNP C C T TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr16:65345320C>T ENST00000569736.1 - 0 815 RP11-256I9.3_ENST00000562656.1_lincRNA NR_027755.1 TACTCACCTTCGTGAGTGAAG 0.413000 6 51 0 0 1 0 0 ZNF652 22834 broad.mit.edu 37 17 47394286 47394286 + Missense_Mutation SNP G G C TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr17:47394286G>C ENST00000362063.2 - 2 1120 c.802C>G c.(802-804)Cat>Gat p.H268D ZNF652_ENST00000430262.2_Missense_Mutation_p.H268D NM_014897.2 NP_055712.1 Q9Y2D9 ZN652_HUMAN zinc finger protein 652 268 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|upper_aerodigestive_tract(1) 20 all_cancers(4;6.81e-14)|Breast(4;4.97e-29)|all_epithelial(4;1.53e-17) BRCA - Breast invasive adenocarcinoma(1;3.1e-14)|Epithelial(5;2.92e-06)|all cancers(6;3.15e-05) ATGCGCCTATGAGTAACGTTC 0.458000 9 56 0 0 1 0 0 OR51V1 283111 broad.mit.edu 37 11 5221635 5221635 + Missense_Mutation SNP C C G TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr11:5221635C>G ENST00000321255.1 - 1 295 c.296G>C c.(295-297)cGa>cCa p.R99P NM_001004760.2 NP_001004760.2 Q9H2C8 O51V1_HUMAN olfactory receptor, family 51, subfamily V, member 1 99 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(2)|large_intestine(13)|lung(19)|skin(2)|upper_aerodigestive_tract(2) 39 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GCTGATCTCTCGAATGATCCC 0.537000 12 28 0 0 1 0 0 NUP160 23279 broad.mit.edu 37 11 47808015 47808015 + Missense_Mutation SNP T T C TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr11:47808015T>C ENST00000378460.2 - 32 3884 c.3838A>G c.(3838-3840)Aag>Gag p.K1280E NUP160_ENST00000530326.1_Missense_Mutation_p.K1166E NM_015231.1 NP_056046.1 Q12769 NU160_HUMAN nucleoporin 160kDa 1280 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|Nup107-160 complex nucleocytoplasmic transporter activity|protein binding NS(1)|biliary_tract(2)|breast(7)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(6)|prostate(2)|skin(2)|urinary_tract(2) 53 CTAGACTCCTTAGTAGTGATG 0.453000 9 23 0 0 1 0 0 CCDC153 283152 broad.mit.edu 37 11 119061132 119061132 + Silent SNP C C G TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr11:119061132C>G ENST00000503566.2 - 6 509 c.510G>C c.(508-510)ctG>ctC p.L170L CCDC153_ENST00000415318.1_Silent_p.L170L Q494R4 CC153_HUMAN coiled-coil domain containing 153 170 lung(3)|stomach(1) 4 TGATGGCTCTCAGCTTGGCCA 0.567000 8 46 0 0 1 0 0 RP1 6101 broad.mit.edu 37 8 55538695 55538695 + Silent SNP C C A TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr8:55538695C>A ENST00000220676.1 + 4 2401 c.2253C>A c.(2251-2253)tcC>tcA p.S751S NM_006269.1 NP_006260.1 P56715 RP1_HUMAN retinitis pigmentosa 1 (autosomal dominant) 751 axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2) 169 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) ATCTCAATTCCACGATTTCCA 0.308000 9 46 0.000274275 0.000320496 1 1 0 CADM4 199731 broad.mit.edu 37 19 44127515 44127515 + Missense_Mutation SNP G G T rs144737031 TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr19:44127515G>T ENST00000222374.2 - 9 1182 c.1134C>A c.(1132-1134)gaC>gaA p.D378E NM_145296.1 NP_660339.1 Q8NFZ8 CADM4_HUMAN cell adhesion molecule 4 378 cell adhesion integral to membrane p.D378D(1) endometrium(2)|large_intestine(3)|lung(4)|prostate(1)|skin(2) 12 Prostate(69;0.0199) TCTTGTGTCCGTCGCTGCCAT 0.612000 11 156 4.68919e-08 6.32239e-08 1 1 0 CHI3L2 1117 broad.mit.edu 37 1 111773888 111773888 + Missense_Mutation SNP A A G TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr1:111773888A>G ENST00000445067.2 + 6 1072 c.301A>G c.(301-303)Att>Gtt p.I101V CHI3L2_ENST00000369744.2_Missense_Mutation_p.I91V|CHI3L2_ENST00000524472.1_Missense_Mutation_p.I22V|CHI3L2_ENST00000369748.4_Missense_Mutation_p.I101V|CHI3L2_ENST00000466741.1_Missense_Mutation_p.I22V Q15782 CH3L2_HUMAN chitinase 3-like 2 101 chitin catabolic process extracellular space cation binding|chitinase activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|prostate(1) 19 all_cancers(81;1.89e-05)|all_epithelial(167;7.36e-06)|all_lung(203;0.00018)|Lung NSC(277;0.000359) Lung(183;0.0171)|Colorectal(144;0.0387)|all cancers(265;0.0464)|LUSC - Lung squamous cell carcinoma(189;0.0872)|Epithelial(280;0.0994)|COAD - Colon adenocarcinoma(174;0.141) TCTCTTGTCCATTGGAGGGTA 0.363000 7 61 0 0 1 0 0 CMYA5 202333 broad.mit.edu 37 5 79086861 79086861 + Missense_Mutation SNP A A T TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr5:79086861A>T ENST00000446378.2 + 11 11789 c.11758A>T c.(11758-11760)Atc>Ttc p.I3920F CTC-431G16.2_ENST00000421252.2_RNA NM_153610.3 NP_705838.3 Q8N3K9 CMYA5_HUMAN cardiomyopathy associated 5 3920 B30.2/SPRY. perinuclear region of cytoplasm NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1) 128 Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262) OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35) TGGGACAGTGATCAGCTTTGG 0.473000 6 22 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7578493 7578493 + Nonsense_Mutation SNP C C T TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr17:7578493C>T ENST00000420246.2 - 5 569 c.437G>A c.(436-438)tGg>tAg p.W146* TP53_ENST00000269305.4_Nonsense_Mutation_p.W146*|TP53_ENST00000455263.2_Nonsense_Mutation_p.W146*|TP53_ENST00000413465.2_Nonsense_Mutation_p.W146*|TP53_ENST00000445888.2_Nonsense_Mutation_p.W146*|TP53_ENST00000359597.4_Nonsense_Mutation_p.W146* NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 146 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. W -> C (in a sporadic cancer; somatic mutation).|W -> G (in sporadic cancers; somatic mutation).|W -> L (in sporadic cancers; somatic mutation).|W -> R (in sporadic cancers; somatic mutation).|W -> S (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.W146*(33)|p.0?(8)|p.W146S(4)|p.Q144_G154del11(1)|p.L137_W146del10(1)|p.Q144fs*32(1)|p.W14S(1)|p.Q144fs*16(1)|p.W146fs*1(1)|p.W146fs*22(1)|p.W146fs*23(1)|p.W53S(1)|p.V143_S149del(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) GGAATCAACCCACAGCTGCAC 0.602000 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) 6 23 0 0 1 0 0 USP11 8237 broad.mit.edu 37 X 47101874 47101874 + Missense_Mutation SNP G G C TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chrX:47101874G>C ENST00000377107.2 + 11 1795 c.1441G>C c.(1441-1443)Gat>Cat p.D481H USP11_ENST00000218348.3_Missense_Mutation_p.D524H P51784 UBP11_HUMAN ubiquitin specific peptidase 11 524 protein deubiquitination|ubiquitin-dependent protein catabolic process cytoplasm|nucleus cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(2)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|ovary(3)|pancreas(1)|stomach(1) 40 CAAGATCTCGGATCTATGTGT 0.542000 3 38 0 0 1 0 0 WIPF1 7456 broad.mit.edu 37 2 175436616 175436616 + Missense_Mutation SNP G G A TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr2:175436616G>A ENST00000392547.2 - 5 1016 c.917C>T c.(916-918)gCc>gTc p.A306V WIPF1_ENST00000409415.3_Missense_Mutation_p.A306V|AC018890.6_ENST00000412835.1_RNA|WIPF1_ENST00000359761.3_Missense_Mutation_p.A306V|WIPF1_ENST00000272746.5_Missense_Mutation_p.A306V|AC018890.6_ENST00000442996.1_RNA|WIPF1_ENST00000409891.1_Missense_Mutation_p.A306V|WIPF1_ENST00000392546.2_Missense_Mutation_p.A306V NM_003387.4 NP_003378.3 O43516 WIPF1_HUMAN WAS/WASL interacting protein family, member 1 306 Pro-rich. actin polymerization or depolymerization|protein complex assembly cytoplasmic membrane-bounded vesicle actin binding|profilin binding NS(1)|breast(1)|endometrium(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1) 32 CGGAGGTGGGGCCTGTGAGGA 0.662000 5 14 0 0 1 0 0 APOH 350 broad.mit.edu 37 17 64212966 64212966 + Missense_Mutation SNP C C A TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr17:64212966C>A ENST00000205948.6 - 6 761 c.724G>T c.(724-726)Ggc>Tgc p.G242C NM_000042.2 NP_000033.2 P02749 APOH_HUMAN apolipoprotein H (beta-2-glycoprotein I) 242 Sushi 4. blood coagulation, intrinsic pathway|negative regulation of angiogenesis|negative regulation of blood coagulation|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of myeloid cell apoptosis|negative regulation of smooth muscle cell apoptosis|plasminogen activation|positive regulation of lipoprotein lipase activity|triglyceride metabolic process|triglyceride transport cell surface|chylomicron|high-density lipoprotein particle|very-low-density lipoprotein particle eukaryotic cell surface binding|glycoprotein binding|heparin binding|lipoprotein lipase activator activity|phospholipid binding central_nervous_system(1)|kidney(3)|large_intestine(5)|lung(6)|skin(1)|upper_aerodigestive_tract(1) 17 BRCA - Breast invasive adenocarcinoma(6;9.74e-08) TCTTCCGGGCCATCCAGAGAA 0.418000 4 78 0.150653 0.155077 1 1 0 METTL21B 25895 broad.mit.edu 37 12 58174199 58174199 + Missense_Mutation SNP G G A TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr12:58174199G>A ENST00000300209.8 + 3 576 c.451G>A c.(451-453)Gat>Aat p.D151N METTL21B_ENST00000551420.1_5'UTR|RP11-571M6.15_ENST00000471530.1_Intron|RP11-571M6.15_ENST00000553083.1_Intron|METTL21B_ENST00000548256.1_3'UTR|METTL21B_ENST00000333012.5_3'UTR NM_015433.2 NP_056248.2 Q96AZ1 MT21B_HUMAN methyltransferase like 21B 151 integral to membrane|intracellular methyltransferase activity endometrium(1)|lung(1) 2 GCTGGGGGCTGATATCGTGTA 0.597000 6 35 0 0 1 0 0 CCNA1 8900 broad.mit.edu 37 13 37011791 37011791 + Missense_Mutation SNP C C T TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr13:37011791C>T ENST00000418263.1 + 3 670 c.320C>T c.(319-321)tCt>tTt p.S107F CCNA1_ENST00000449823.1_Missense_Mutation_p.S64F|CCNA1_ENST00000440264.1_Missense_Mutation_p.S64F|CCNA1_ENST00000255465.4_Missense_Mutation_p.S108F|CCNA1_ENST00000463403.1_3'UTR NM_001111045.1|NM_003914.3 NP_001104515.1|NP_003905.1 P78396 CCNA1_HUMAN cyclin A1 108 cell division|G2/M transition of mitotic cell cycle|male meiosis I|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|spermatogenesis cytosol|microtubule cytoskeleton|nucleoplasm protein kinase binding breast(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1) 35 Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174) KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169) all cancers(112;1.91e-07)|Epithelial(112;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0119)|GBM - Glioblastoma multiforme(144;0.0242) AGGTGTTATTCTGGATCAGAA 0.463000 7 77 0 0 1 0 0 KIAA1033 23325 broad.mit.edu 37 12 105519872 105519872 + Missense_Mutation SNP C C T TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr12:105519872C>T ENST00000332180.5 + 11 964 c.877C>T c.(877-879)Cgg>Tgg p.R293W NM_015275.1 NP_056090.1 Q2M389 WAHS7_HUMAN KIAA1033 293 R -> Q (in Ref. 2; BAA91816). endosome transport WASH complex breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 41 ACATAGTATTCGGTCAATTTT 0.323000 11 40 0 0 1 0 0 TP53I3 9540 broad.mit.edu 37 2 24305843 24305843 + Silent SNP G G T TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr2:24305843G>T ENST00000238721.4 - 2 1172 c.318C>A c.(316-318)ctC>ctA p.L106L TP53I3_ENST00000407482.1_Silent_p.L106L|FAM228B_ENST00000461972.1_Intron|TP53I3_ENST00000335934.4_Silent_p.L106L|TP53I3_ENST00000313482.4_Silent_p.L106L|TP53I3_ENST00000417886.1_Intron NM_004881.4 NP_004872.2 Q53FA7 QORX_HUMAN tumor protein p53 inducible protein 3 106 induction of apoptosis by oxidative stress|NADP metabolic process NADPH binding|NADPH:quinone reductase activity|protein homodimerization activity|quinone binding|zinc ion binding endometrium(1)|kidney(4)|large_intestine(2)|lung(3)|urinary_tract(2) 12 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GGATAGGCATGAGGAGCCCTT 0.647000 4 14 0.00909568 0.00992971 1 1 0 OR2F2 135948 broad.mit.edu 37 7 143632727 143632727 + Silent SNP C C A TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr7:143632727C>A ENST00000408955.2 + 1 469 c.402C>A c.(400-402)gcC>gcA p.A134A NM_001004685.1 NP_001004685.1 O95006 OR2F2_HUMAN olfactory receptor, family 2, subfamily F, member 2 134 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(19)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1) 32 Melanoma(164;0.0903) GATACTCGGCCATCATGCATG 0.552000 8 68 5.18039e-06 6.60369e-06 1 1 0 PLXNA3 55558 broad.mit.edu 37 X 153696528 153696528 + Missense_Mutation SNP C C G TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chrX:153696528C>G ENST00000369682.3 + 22 4099 c.3924C>G c.(3922-3924)ttC>ttG p.F1308L NM_017514.3 NP_059984.3 P51805 PLXA3_HUMAN plexin A3 1308 axon guidance integral to membrane|intracellular|plasma membrane transmembrane receptor activity breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 48 all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) GCGTGCTCTTCCCGGGCATCG 0.637000 3 43 0 0 1 0 0 WDR53 348793 broad.mit.edu 37 3 196281322 196281322 + Missense_Mutation SNP C C G TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr3:196281322C>G ENST00000332629.5 - 4 1404 c.837G>C c.(835-837)aaG>aaC p.K279N WDR53_ENST00000433160.1_Missense_Mutation_p.K120N|WDR53_ENST00000429115.1_Missense_Mutation_p.K118N NM_182627.1 NP_872433.1 Q7Z5U6 WDR53_HUMAN WD repeat domain 53 279 breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1) 13 all_cancers(143;8.88e-09)|Ovarian(172;0.0634)|Breast(254;0.135) Epithelial(36;1.6e-23)|all cancers(36;1.54e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.29e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00326) TTGTGGGACTCTTCTGTTTTT 0.448000 4 72 0 0 1 0 0 CEP128 145508 broad.mit.edu 37 14 81251718 81251718 + Missense_Mutation SNP C C G TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr14:81251718C>G ENST00000555265.1 - 15 2107 c.1732G>C c.(1732-1734)Gaa>Caa p.E578Q CEP128_ENST00000281129.3_Missense_Mutation_p.E578Q Q6ZU80 CE128_HUMAN centrosomal protein 128kDa 578 centriole|spindle pole NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 51 ACTTCCAATTCAAGGTCAGCT 0.428000 9 72 0 0 1 0 0 MYH15 22989 broad.mit.edu 37 3 108147351 108147351 + Missense_Mutation SNP C C G TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr3:108147351C>G ENST00000273353.3 - 28 3806 c.3750G>C c.(3748-3750)atG>atC p.M1250I NM_014981.1 NP_055796.1 Q9Y2K3 MYH15_HUMAN myosin, heavy chain 15 1250 myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 105 TAGCTCTTGTCATCTGCTCAA 0.478000 25 111 0 0 1 0 0 DGKB 1607 broad.mit.edu 37 7 14188815 14188815 + Missense_Mutation SNP G G T TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr7:14188815G>T ENST00000403951.2 - 26 2775 c.2356C>A c.(2356-2358)Cca>Aca p.P786T DGKB_ENST00000444700.2_Missense_Mutation_p.P767T|DGKB_ENST00000258767.5_Missense_Mutation_p.P786T|DGKB_ENST00000402815.1_Missense_Mutation_p.P785T|DGKB_ENST00000407950.1_Missense_Mutation_p.P778T|DGKB_ENST00000399322.3_Missense_Mutation_p.P786T Q9Y6T7 DGKB_HUMAN diacylglycerol kinase, beta 90kDa 786 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation cytoplasm|plasma membrane ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 72 Phosphatidylserine(DB00144) CCGGTTTTTGGAGGCGGGCCC 0.393000 8 83 0.000157383 0.000187375 1 1 0 ABCA8 10351 broad.mit.edu 37 17 66899531 66899531 + Silent SNP A A C TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr17:66899531A>C ENST00000269080.2 - 18 2525 c.2388T>G c.(2386-2388)ggT>ggG p.G796G ABCA8_ENST00000586539.1_Silent_p.G836G|ABCA8_ENST00000430352.2_Silent_p.G836G NM_007168.2 NP_009099.1 O94911 ABCA8_HUMAN ATP-binding cassette, sub-family A (ABC1), member 8 796 integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4) 83 Breast(10;4.56e-13) GAGCCACACCACCTATTGTCT 0.428000 16 105 0 0 1 0 0 MSL3 10943 broad.mit.edu 37 X 11783671 11783671 + Missense_Mutation SNP C C G TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chrX:11783671C>G ENST00000337339.2 + 9 1021 c.994C>G c.(994-996)Cca>Gca p.P332A MSL3_ENST00000398527.2_Missense_Mutation_p.P320A|MSL3_ENST00000361672.2_Missense_Mutation_p.P183A|MSL3_ENST00000380693.3_Missense_Mutation_p.P166A|MSL3_ENST00000312196.4_Missense_Mutation_p.P332A NM_078628.1 NP_523352.1 Q8N5Y2 MS3L1_HUMAN male-specific lethal 3 homolog (Drosophila) 332 histone H4-K16 acetylation|multicellular organismal development|transcription from RNA polymerase II promoter MSL complex DNA binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity breast(1)|central_nervous_system(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|urinary_tract(1) 19 CACCGGTGAACCAGCCACCCC 0.592000 5 81 0 0 1 0 0 TACO1 51204 broad.mit.edu 37 17 61684733 61684733 + Missense_Mutation SNP T T C TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr17:61684733T>C ENST00000258975.6 + 4 814 c.602T>C c.(601-603)gTg>gCg p.V201A NM_016360.3 NP_057444.2 Q9BSH4 TACO1_HUMAN translational activator of mitochondrially encoded cytochrome c oxidase I 201 regulation of translation mitochondrion breast(2)|endometrium(1)|lung(1) 4 AAGAAGGCTGTGAACCTAGAG 0.483000 5 27 0 0 1 0 0 KLHL3 26249 broad.mit.edu 37 5 136993882 136993882 + Missense_Mutation SNP C C A TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr5:136993882C>A ENST00000508657.1 - 8 1459 c.745G>T c.(745-747)Gat>Tat p.D249Y KLHL3_ENST00000309755.4_Missense_Mutation_p.D281Y|KLHL3_ENST00000506491.1_Missense_Mutation_p.D199Y|KLHL3_ENST00000394937.3_Missense_Mutation_p.D281Y|KLHL3_ENST00000541417.1_Missense_Mutation_p.D161Y|KLHL3_ENST00000506873.1_5'UTR NM_001257194.1 NP_001244123.1 Q9UH77 KLHL3_HUMAN kelch-like family member 3 281 cytoplasm|cytoskeleton actin binding|structural molecule activity breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|stomach(1)|upper_aerodigestive_tract(1) 21 all_hematologic(541;3.67e-07)|Breast(839;7.61e-05)|Prostate(281;0.000825)|Ovarian(839;0.0481)|all_lung(232;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) GBM - Glioblastoma multiforme(465;0.0223) AGTCTCTGATCCAGAGGGAGG 0.468000 7 34 0.0381472 0.0402523 1 1 0 SLC23A1 9963 broad.mit.edu 37 5 138707768 138707768 + Nonsense_Mutation SNP G G C TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr5:138707768G>C ENST00000353963.3 - 14 1774 c.1736C>G c.(1735-1737)tCa>tGa p.S579* SLC23A1_ENST00000348729.3_Nonsense_Mutation_p.S575* NM_152685.3 NP_689898 Q9UHI7 S23A1_HUMAN solute carrier family 23 (ascorbic acid transporter), member 1 575 brain development|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|response to toxin|transepithelial L-ascorbic acid transport|water-soluble vitamin metabolic process apical plasma membrane|cytoplasm|integral to plasma membrane|intracellular organelle|membrane fraction dehydroascorbic acid transporter activity|L-ascorbate:sodium symporter activity|nucleobase transmembrane transporter activity|protein binding|sodium-dependent L-ascorbate transmembrane transporter activity biliary_tract(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(5)|ovary(1) 19 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325) Vitamin C(DB00126) CTGATCTTTTGAACTTGAAGA 0.398000 14 104 0 0 1 0 0 ZNF804B 219578 broad.mit.edu 37 7 88966097 88966097 + Silent SNP C C G TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr7:88966097C>G ENST00000333190.4 + 4 4410 c.3801C>G c.(3799-3801)ccC>ccG p.P1267P NM_181646.2 NP_857597.1 A4D1E1 Z804B_HUMAN zinc finger protein 804B 1267 intracellular zinc ion binding NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9) 144 all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151) STAD - Stomach adenocarcinoma(171;0.0513) CAGGTCATCCCCTGCATTTAG 0.463000 HNSCC(36;0.09) 9 79 0 0 1 0 0 ZNF669 79862 broad.mit.edu 37 1 247263885 247263885 + Missense_Mutation SNP C C T TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr1:247263885C>T ENST00000343381.6 - 4 1358 c.1186G>A c.(1186-1188)Gat>Aat p.D396N ZNF669_ENST00000448299.2_Missense_Mutation_p.D310N|ZNF669_ENST00000358785.4_3'UTR NM_024804.2 NP_079080.2 Q96BR6 ZN669_HUMAN zinc finger protein 669 396 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(3)|kidney(4)|large_intestine(2)|lung(6) 17 all_cancers(71;4.09e-05)|all_epithelial(71;6.72e-06)|Breast(184;0.0226)|Ovarian(71;0.0283)|all_lung(81;0.0488)|Lung NSC(105;0.053) OV - Ovarian serous cystadenocarcinoma(106;0.00427) AAGGCTTGATCACATTGTTTA 0.423000 7 102 0 0 1 0 0 KLHL30 377007 broad.mit.edu 37 2 239049543 239049543 + Missense_Mutation SNP C C A TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr2:239049543C>A ENST00000409223.1 + 2 255 c.148C>A c.(148-150)Ctc>Atc p.L50I KLHL30_ENST00000305959.4_Missense_Mutation_p.L32I Q0D2K2 KLH30_HUMAN kelch-like family member 30 50 BTB. lung(4) 4 Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244) Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253) CCACCGCGGCCTCCTGGCGCT 0.697000 7 28 8.12818e-05 9.75073e-05 1 1 0 EPC1 80314 broad.mit.edu 37 10 32562144 32562144 + Missense_Mutation SNP C C T rs150143347 TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr10:32562144C>T ENST00000319778.6 - 11 2112 c.1810G>A c.(1810-1812)Gca>Aca p.A604T EPC1_ENST00000263062.8_Missense_Mutation_p.A604T|EPC1_ENST00000375110.2_Missense_Mutation_p.A554T NM_001272004.1|NM_001272019.2 NP_001258933.1|NP_001258948.1 Q9H2F5 EPC1_HUMAN enhancer of polycomb homolog 1 (Drosophila) 604 histone H2A acetylation|histone H4 acetylation|negative regulation of gene expression, epigenetic|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of growth|transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear membrane|Piccolo NuA4 histone acetyltransferase complex breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(5)|urinary_tract(1) 24 Prostate(175;0.0199) TGAATTTGTGCAAGCTGCTGT 0.398000 6 49 0 0 1 0 0 FFAR3 2865 broad.mit.edu 37 19 35850582 35850582 + Missense_Mutation SNP C C T TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr19:35850582C>T ENST00000327809.4 + 2 991 c.790C>T c.(790-792)Ctc>Ttc p.L264F FFAR3_ENST00000594310.1_Missense_Mutation_p.L264F NM_005304.3 NP_005295.1 O14843 FFAR3_HUMAN free fatty acid receptor 3 264 integral to plasma membrane G-protein coupled receptor activity|lipid binding endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|stomach(1) 17 all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162) Epithelial(14;1.29e-19)|OV - Ovarian serous cystadenocarcinoma(14;4.63e-18)|all cancers(14;5.19e-17)|LUSC - Lung squamous cell carcinoma(66;0.0221) CGTGACGCTTCTCAGCACCCT 0.567000 22 140 0 0 1 0 0 COL15A1 1306 broad.mit.edu 37 9 101830865 101830865 + Nonsense_Mutation SNP C C G TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr9:101830865C>G ENST00000375001.3 + 41 4289 c.3866C>G c.(3865-3867)tCa>tGa p.S1289* NM_001855.3 NP_001846.3 P39059 COFA1_HUMAN collagen, type XV, alpha 1 1289 Nonhelical region 10 (NC10). angiogenesis|cell differentiation|signal transduction collagen type XV|extracellular space|integral to membrane binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 107 Acute lymphoblastic leukemia(62;0.0562) AATTGGGACTCAATTTTTTCT 0.363000 3 73 0 0 1 0 0 NF1 4763 broad.mit.edu 37 17 29559841 29559841 + Silent SNP C C A TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr17:29559841C>A ENST00000358273.4 + 26 3821 c.3438C>A c.(3436-3438)gtC>gtA p.V1146V NF1_ENST00000356175.3_Silent_p.V1146V NM_001042492.2 NP_001035957.1 P21359 NF1_HUMAN neurofibromin 1 1146 actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus protein binding|Ras GTPase activator activity p.0?(8)|p.?(4) NF1/ACCN1(2) autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9) 599 all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659) UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146) ACTGTACGGTCCTTGCAATGT 0.448000 """D, Mis, N, F, S, O""" """neurofibroma, glioma""" """neurofibroma, glioma""" Neurofibromatosis, type 1 TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088) 8 31 0.00307968 0.00345779 1 1 0 OR1L4 254973 broad.mit.edu 37 9 125486319 125486319 + Silent SNP C C A TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr9:125486319C>A ENST00000259466.1 + 1 51 c.51C>A c.(49-51)ggC>ggA p.G17G NM_001005235.1 NP_001005235.1 Q8NGR5 OR1L4_HUMAN olfactory receptor, family 1, subfamily L, member 4 17 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|large_intestine(3)|lung(13)|prostate(1)|skin(1) 20 TCCTCCTGGGCCTCTCTTCCA 0.498000 7 80 0.00198382 0.00223934 1 1 0 FLRT3 23767 broad.mit.edu 37 20 14306971 14306971 + Silent SNP G G T TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr20:14306971G>T ENST00000378053.3 - 2 1438 c.1182C>A c.(1180-1182)ccC>ccA p.P394P MACROD2_ENST00000217246.4_Intron|MACROD2_ENST00000310348.4_Intron|FLRT3_ENST00000341420.4_Silent_p.P394P NM_013281.3 NP_037413.1 Q9NZU0 FLRT3_HUMAN fibronectin leucine rich transmembrane protein 3 394 cell adhesion integral to plasma membrane|proteinaceous extracellular matrix protein binding, bridging|receptor signaling protein activity p.P394P(1) breast(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 Colorectal(1;0.0464) COAD - Colon adenocarcinoma(2;0.129) Colorectal(1;0.0393) TAGTGAGCTTGGGGTTCTTAA 0.453000 12 161 9.31168e-06 1.17985e-05 1 1 0 ITGA6 3655 broad.mit.edu 37 2 173356018 173356018 + Missense_Mutation SNP C C G TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr2:173356018C>G ENST00000375221.2 + 23 3168 c.2965C>G c.(2965-2967)Ctt>Gtt p.L989V ITGA6_ENST00000264106.6_Missense_Mutation_p.L989V|ITGA6_ENST00000409080.1_Missense_Mutation_p.L950V|ITGA6_ENST00000343713.4_Missense_Mutation_p.L945V|ITGA6_ENST00000409532.1_Missense_Mutation_p.L831V|ITGA6_ENST00000264107.7_Missense_Mutation_p.L950V|AC093818.1_ENST00000442417.1_RNA P23229 ITA6_HUMAN integrin, alpha 6 989 blood coagulation|cell adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter integrin complex protein binding|receptor activity NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 44 OV - Ovarian serous cystadenocarcinoma(117;0.0979) CAAGGCGTCTCTTATTTTGCG 0.478000 20 80 0 0 1 0 0 TRIM39 56658 broad.mit.edu 37 6 30297321 30297321 + Missense_Mutation SNP G G A TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr6:30297321G>A ENST00000376659.5 + 3 825 c.227G>A c.(226-228)cGc>cAc p.R76H TRIM39_ENST00000396551.3_Missense_Mutation_p.R76H|TRIM39_ENST00000396547.1_Missense_Mutation_p.R76H|TRIM39_ENST00000540416.1_Missense_Mutation_p.R76H|TRIM39_ENST00000376656.4_Missense_Mutation_p.R76H|TRIM39_ENST00000396548.1_Missense_Mutation_p.R76H NM_172016.2 NP_742013.1 tripartite motif containing 39 ovary(3) 3 TCCCGCTACCGCAGTCTCCGA 0.577000 11 31 0 0 1 0 0 VILL 50853 broad.mit.edu 37 3 38038627 38038627 + Missense_Mutation SNP G G C TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr3:38038627G>C ENST00000283713.6 + 6 776 c.510G>C c.(508-510)aaG>aaC p.K170N VILL_ENST00000383759.2_Missense_Mutation_p.K170N|VILL_ENST00000465644.1_Intron O15195 VILL_HUMAN villin-like 170 actin filament capping|cytoskeleton organization actin cytoskeleton actin binding|structural constituent of cytoskeleton cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|urinary_tract(2) 28 KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661) ACCTAGGCAAGATGATGATTC 0.557000 OREG0015474 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 63 0 0 1 0 0 IGKV1-33 28933 broad.mit.edu 37 2 89568222 89568222 + RNA SNP C C A TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr2:89568222C>A ENST00000473726.1 - 0 41 AGCAGGGACCCTCATGTCCAT 0.567000 3 34 0.00116845 0.00133567 1 1 0 SLC26A3 1811 broad.mit.edu 37 7 107427288 107427288 + Missense_Mutation SNP C C A TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr7:107427288C>A ENST00000340010.5 - 8 1139 c.955G>T c.(955-957)Ggg>Tgg p.G319W SLC26A3_ENST00000422236.2_Missense_Mutation_p.G284W NM_000111.2 NP_000102.1 P40879 S26A3_HUMAN solute carrier family 26 (anion exchanger), member 3 319 excretion integral to membrane|membrane fraction inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 46 TTCATGTCCCCAACCACAGCC 0.468000 11 61 0.000978159 0.00112426 1 1 0 COL7A1 1294 broad.mit.edu 37 3 48630676 48630676 + Missense_Mutation SNP C C G TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr3:48630676C>G ENST00000328333.8 - 5 648 c.541G>C c.(541-543)Gag>Cag p.E181Q COL7A1_ENST00000454817.1_Missense_Mutation_p.E181Q NM_000094.3 NP_000085.1 Q02388 CO7A1_HUMAN collagen, type VII, alpha 1 181 Nonhelical region (NC1).|VWFA 1. cell adhesion|epidermis development basement membrane|collagen type VII protein binding|serine-type endopeptidase inhibitor activity NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5) 137 BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) TTCAGCTCCTCAGGGTCAGCA 0.567000 8 40 0 0 1 0 0 POF1B 79983 broad.mit.edu 37 X 84560834 84560834 + Nonsense_Mutation SNP A A T TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chrX:84560834A>T ENST00000262753.4 - 13 1545 c.1400T>A c.(1399-1401)tTg>tAg p.L467* POF1B_ENST00000373145.3_Nonsense_Mutation_p.L467* NM_024921.3 NP_079197.3 Q8WVV4 POF1B_HUMAN premature ovarian failure, 1B 467 actin binding central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1) 35 CTCCATTCTCAAGTTTTTTAC 0.408000 5 61 0 0 1 0 0 ZNF560 147741 broad.mit.edu 37 19 9578093 9578093 + Missense_Mutation SNP G G T TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr19:9578093G>T ENST00000301480.4 - 10 1743 c.1530C>A c.(1528-1530)caC>caA p.H510Q NM_152476.2 NP_689689.2 Q96MR9 ZN560_HUMAN zinc finger protein 560 510 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4) 65 TCTCACCAGTGTGAGTTCTCA 0.413000 20 60 0.000958276 0.00110342 1 1 0 POR 5447 broad.mit.edu 37 7 75615554 75615554 + Missense_Mutation SNP C C G TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr7:75615554C>G ENST00000419840.1 + 14 1635 c.995C>G c.(994-996)tCt>tGt p.S332C POR_ENST00000439269.1_Silent_p.V369V|POR_ENST00000450476.1_Silent_p.V530V|POR_ENST00000394893.1_Silent_p.V631V|POR_ENST00000545601.1_Silent_p.V439V|POR_ENST00000461988.1_Silent_p.V631V P16435 NCPR_HUMAN P450 (cytochrome) oxidoreductase 0 FAD-binding FR-type. cellular organofluorine metabolic process|positive regulation of monooxygenase activity endoplasmic reticulum membrane iron ion binding|NADPH-hemoprotein reductase activity central_nervous_system(1)|endometrium(2)|kidney(2)|lung(3)|ovary(1) 9 Benzphetamine(DB00865)|Daunorubicin(DB00694)|Lipoic Acid(DB00166)|Menadione(DB00170)|Methoxyflurane(DB01028)|Mitomycin(DB00305)|Nilutamide(DB00665) ACATCTACGTCTGTGGGTGAG 0.632000 4 13 0 0 1 0 0 COMTD1 118881 broad.mit.edu 37 10 76993840 76993840 + Missense_Mutation SNP G G C TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr10:76993840G>C ENST00000372538.3 - 7 862 c.780C>G c.(778-780)ttC>ttG p.F260L COMTD1_ENST00000460899.1_5'UTR NM_144589.2 NP_653190.2 Q86VU5 CMTD1_HUMAN catechol-O-methyltransferase domain containing 1 260 integral to membrane O-methyltransferase activity central_nervous_system(1)|large_intestine(1)|lung(1) 3 all_cancers(46;0.0642)|all_epithelial(25;0.00604)|Prostate(51;0.0112)|Ovarian(15;0.183) CCTAGATCTTGAAGGCCAAGG 0.582000 3 46 0 0 1 0 0 FAT2 2196 broad.mit.edu 37 5 150923959 150923959 + Silent SNP G G C TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr5:150923959G>C ENST00000261800.5 - 9 6741 c.6729C>G c.(6727-6729)gtC>gtG p.V2243V NM_001447.2 NP_001438.1 Q9NYQ8 FAT2_HUMAN FAT atypical cadherin 2 2243 Cadherin 19. epithelial cell migration|homophilic cell adhesion cell-cell adherens junction|integral to membrane|nucleus calcium ion binding NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1) 196 Medulloblastoma(196;0.0912)|all_hematologic(541;0.104) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) CCGTGGCTCTGACTGTGAACA 0.478000 11 72 0 0 1 0 0 PARP15 165631 broad.mit.edu 37 3 122345780 122345780 + Silent SNP C C T TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr3:122345780C>T ENST00000464300.2 + 9 1404 c.1338C>T c.(1336-1338)gtC>gtT p.V446V PARP15_ENST00000465304.1_3'UTR|PARP15_ENST00000483793.1_Intron|PARP15_ENST00000310366.4_Silent_p.V212V|PARP15_ENST00000493645.1_Intron NM_001113523.1 NP_001106995.1 Q460N3 PAR15_HUMAN poly (ADP-ribose) polymerase family, member 15 424 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus NAD+ ADP-ribosyltransferase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 24 GBM - Glioblastoma multiforme(114;0.0531) TTAAAGTTGTCATTTTTCAAC 0.378000 7 56 0 0 1 0 0 MATN4 8785 broad.mit.edu 37 20 43926963 43926963 + Missense_Mutation SNP C C A TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr20:43926963C>A ENST00000537548.1 - 8 1517 c.1273G>T c.(1273-1275)Ggg>Tgg p.G425W MATN4_ENST00000342716.4_Missense_Mutation_p.G425W|MATN4_ENST00000372751.4_Missense_Mutation_p.G276W|MATN4_ENST00000353917.5_Missense_Mutation_p.G343W|MATN4_ENST00000372754.1_Missense_Mutation_p.G466W|MATN4_ENST00000372756.1_Missense_Mutation_p.G425W|MATN4_ENST00000360607.6_Missense_Mutation_p.G384W O95460 MATN4_HUMAN matrilin 4 466 VWFA 2. extracellular region protein binding central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 27 Myeloproliferative disorder(115;0.0122) AACGCCAGCCCTGTCATGGTG 0.677000 5 28 0.184627 0.188511 1 1 0 ST5 6764 broad.mit.edu 37 11 8752224 8752224 + Missense_Mutation SNP C C G TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr11:8752224C>G ENST00000534127.1 - 6 998 c.613G>C c.(613-615)Ggc>Cgc p.G205R ST5_ENST00000530438.1_Intron|ST5_ENST00000313726.6_Missense_Mutation_p.G205R|ST5_ENST00000357665.1_Missense_Mutation_p.G205R|ST5_ENST00000526757.1_Intron NM_005418.3 NP_005409.3 P78524 ST5_HUMAN suppression of tumorigenicity 5 205 positive regulation of ERK1 and ERK2 cascade protein binding NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 39 Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352) CTGGGACAGCCCAGGCTGGGG 0.652000 8 16 0 0 1 0 0 SLC25A30 253512 broad.mit.edu 37 13 45975264 45975264 + Missense_Mutation SNP G G A TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr13:45975264G>A ENST00000539591.1 - 6 578 c.415C>T c.(415-417)Ctt>Ttt p.L139F Q5SVS4 KMCP1_HUMAN solute carrier family 25, member 30 190 mitochondrial transport integral to membrane|mitochondrial inner membrane binding breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3) 9 Lung NSC(96;0.00227)|Prostate(109;0.00578)|Breast(56;0.0192)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;7.95e-05) GAGAGAATAAGATGCTTCTTG 0.398000 7 49 0 0 1 0 0 FAM129C 199786 broad.mit.edu 37 19 17653056 17653056 + Missense_Mutation SNP C C G TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr19:17653056C>G ENST00000335393.4 + 11 1513 c.1375C>G c.(1375-1377)Ctg>Gtg p.L459V FAM129C_ENST00000599124.1_Missense_Mutation_p.L428V|FAM129C_ENST00000599164.1_Missense_Mutation_p.L428V|FAM129C_ENST00000595684.1_Missense_Mutation_p.L459V|FAM129C_ENST00000601861.1_Missense_Mutation_p.L428V|FAM129C_ENST00000332386.5_Missense_Mutation_p.L459V|FAM129C_ENST00000300971.2_Missense_Mutation_p.L459V|FAM129C_ENST00000449408.2_Missense_Mutation_p.L185V|FAM129C_ENST00000600871.1_Missense_Mutation_p.L405V|FAM129C_ENST00000352727.3_Missense_Mutation_p.L459V NM_173544.4 NP_775815 Q86XR2 NIBL2_HUMAN family with sequence similarity 129, member C 459 autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(2)|lung(14)|ovary(1)|skin(3)|stomach(1) 33 GTTTGGCTTTCTGGGGATGCA 0.642000 18 77 0 0 1 0 0 LRP1B 53353 broad.mit.edu 37 2 141459386 141459386 + Missense_Mutation SNP C C A TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr2:141459386C>A ENST00000389484.3 - 40 7302 c.6331G>T c.(6331-6333)Ggc>Tgc p.G2111C NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 2111 protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) TTCTTGTGGCCCCTTCTGACA 0.423000 TSP Lung(27;0.18) 24 82 5.45024e-15 7.67657e-15 1 1 0 AHCTF1 25909 broad.mit.edu 37 1 247071049 247071049 + Missense_Mutation SNP G G C TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr1:247071049G>C ENST00000366508.1 - 5 809 c.673C>G c.(673-675)Cta>Gta p.L225V AHCTF1_ENST00000326225.3_Missense_Mutation_p.L199V|AHCTF1_ENST00000391829.2_Missense_Mutation_p.L190V Q8WYP5 ELYS_HUMAN AT hook containing transcription factor 1 190 Necessary for cytoplasmic localization (By similarity). cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm DNA binding NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 74 all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518) all_cancers(173;0.0266) OV - Ovarian serous cystadenocarcinoma(106;0.00271) ATACCAGTTAGAACTTCAAGA 0.368000 3 52 0 0 1 0 0 PLD5 200150 broad.mit.edu 37 1 242287805 242287805 + Nonsense_Mutation SNP G G A TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr1:242287805G>A ENST00000536534.2 - 6 1139 c.898C>T c.(898-900)Cag>Tag p.Q300* PLD5_ENST00000442594.2_Nonsense_Mutation_p.Q208*|PLD5_ENST00000427495.1_Nonsense_Mutation_p.Q238* Q8N7P1 PLD5_HUMAN phospholipase D family, member 5 integral to membrane catalytic activity breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(22)|ovary(6)|skin(3)|urinary_tract(1) 55 Melanoma(84;0.242) OV - Ovarian serous cystadenocarcinoma(106;0.0329) TCATTCAACTGAAGTTGCAAT 0.378000 6 49 0 0 1 0 0 DEF8 54849 broad.mit.edu 37 16 90025431 90025431 + Missense_Mutation SNP G G A TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr16:90025431G>A ENST00000563594.1 + 6 1379 c.382G>A c.(382-384)Gag>Aag p.E128K DEF8_ENST00000563848.1_3'UTR|DEF8_ENST00000567874.1_Missense_Mutation_p.E68K|DEF8_ENST00000268676.7_Missense_Mutation_p.E189K|DEF8_ENST00000418391.2_Missense_Mutation_p.E128K|DEF8_ENST00000570182.1_Missense_Mutation_p.E118K|DEF8_ENST00000563795.1_Missense_Mutation_p.E128K|DEF8_ENST00000569453.1_Missense_Mutation_p.E128K NM_001242818.1|NM_001242819.1 NP_001229747.1|NP_001229748.1 Q6ZN54 DEFI8_HUMAN differentially expressed in FDCP 8 homolog (mouse) 189 intracellular signal transduction zinc ion binding central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1) 12 all_cancers(9;7.59e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.0019)|all_hematologic(23;0.0194) BRCA - Breast invasive adenocarcinoma(80;0.0274) GGACCCCAATGAGGATGAGCC 0.537000 8 95 0 0 1 0 0 ITGB4 3691 broad.mit.edu 37 17 73727424 73727424 + Missense_Mutation SNP C C T TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr17:73727424C>T ENST00000200181.3 + 10 1377 c.1190C>T c.(1189-1191)tCc>tTc p.S397F ITGB4_ENST00000450894.3_Missense_Mutation_p.S397F|ITGB4_ENST00000579662.1_Missense_Mutation_p.S397F|ITGB4_ENST00000449880.2_Missense_Mutation_p.S397F|ITGB4_ENST00000584558.1_3'UTR|ITGB4_ENST00000339591.3_Missense_Mutation_p.S397F NM_000213.3 NP_000204.3 P16144 ITB4_HUMAN integrin, beta 4 397 cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding cell leading edge|cell surface|hemidesmosome|integrin complex protein binding|receptor activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1) 43 all_cancers(13;1.5e-07) all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154) AGGACTGGGTCCTTTCACATC 0.632000 10 42 0 0 1 0 0 ABCC2 1244 broad.mit.edu 37 10 101591826 101591826 + Silent SNP C C A rs72558199 byFrequency TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr10:101591826C>A ENST00000370449.4 + 23 3309 c.3196C>A c.(3196-3198)Cga>Aga p.R1066R NM_000392.3 NP_000383 Q92887 MRP2_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 2 1066 ABC transmembrane type-1 2. apical plasma membrane|integral to plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 67 Colorectal(252;0.234) Epithelial(162;2.77e-10)|all cancers(201;2.47e-08) Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138) CAATATCCTTCGAGCACCTAT 0.428000 10 59 0.010729 0.0116926 1 1 0 JADE2 23338 broad.mit.edu 37 5 133902070 133902070 + Missense_Mutation SNP G G A TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr5:133902070G>A ENST00000395003.1 + 9 1413 c.1234G>A c.(1234-1236)Gag>Aag p.E412K PHF15_ENST00000282605.4_Missense_Mutation_p.E412K|PHF15_ENST00000402835.1_Missense_Mutation_p.E412K|PHF15_ENST00000361895.2_Missense_Mutation_p.E412K NM_015288.4 NP_056103.4 Q9NQC1 JADE2_HUMAN 412 histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation histone acetyltransferase complex zinc ion binding NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|skin(1) 22 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) GGAGCCGGCTGAGGTGGCTGA 0.622000 6 37 0 0 1 0 0 SLC8B1 80024 broad.mit.edu 37 12 113745598 113745598 + Missense_Mutation SNP C C A TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr12:113745598C>A ENST00000552014.1 - 14 1824 c.1309G>T c.(1309-1311)Gcc>Tcc p.A437S SLC8B1_ENST00000202831.3_Missense_Mutation_p.A437S|SLC8B1_ENST00000546737.1_Missense_Mutation_p.A381S|SLC8B1_ENST00000550047.1_5'UTR solute carrier family 8 (sodium/lithium/calcium exchanger), member B1 437 ACCTCTGTGGCGGCCGCGTTG 0.622000 5 19 1.23904e-05 1.53602e-05 1 1 0 UGGT1 56886 broad.mit.edu 37 2 128932429 128932429 + Missense_Mutation SNP A A G TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr2:128932429A>G ENST00000375990.3 + 31 3867 c.3464A>G c.(3463-3465)tAc>tGc p.Y1155C UGGT1_ENST00000259253.6_Missense_Mutation_p.Y1179C Q9NYU2 UGGG1_HUMAN UDP-glucose glycoprotein glucosyltransferase 1 1179 'de novo' posttranslational protein folding|post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum lumen|ER-Golgi intermediate compartment UDP-glucose:glycoprotein glucosyltransferase activity|unfolded protein binding NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 63 TATAGAATTTACAGGTAGGAG 0.423000 13 51 0 0 1 0 0 RBM12B 389677 broad.mit.edu 37 8 94747019 94747019 + Silent SNP G G A TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr8:94747019G>A ENST00000399300.2 - 3 1833 c.1620C>T c.(1618-1620)ttC>ttT p.F540F RBM12B_ENST00000520961.1_Intron|RBM12B_ENST00000517700.1_Silent_p.F540F NM_203390.2 NP_976324.2 Q8IXT5 RB12B_HUMAN RNA binding motif protein 12B 540 nucleotide binding|RNA binding breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2) 30 Breast(36;4.14e-07) BRCA - Breast invasive adenocarcinoma(8;0.0168) GGGGATGCTTGAAGTTATCCA 0.493000 4 65 0 0 1 0 0 C22orf42 150297 broad.mit.edu 37 22 32555103 32555103 + Missense_Mutation SNP C C T TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr22:32555103C>T ENST00000382097.3 - 1 172 c.100G>A c.(100-102)Gag>Aag p.E34K NM_001010859.1 NP_001010859.1 Q6IC83 CV042_HUMAN chromosome 22 open reading frame 42 34 NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(2) 24 GCCACAGTCTCAGGAATCTCA 0.577000 5 68 0 0 1 0 0 CELSR3 1951 broad.mit.edu 37 3 48699656 48699656 + Missense_Mutation SNP C C G TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr3:48699656C>G ENST00000544264.1 - 1 692 c.412G>C c.(412-414)Gag>Cag p.E138Q CELSR3_ENST00000164024.4_Missense_Mutation_p.E138Q Q9NYQ7 CELR3_HUMAN cadherin, EGF LAG seven-pass G-type receptor 3 138 homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 83 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619) GAGGAGACCTCTGGGCGCCAG 0.637000 8 78 0 0 1 0 0 ABCC9 10060 broad.mit.edu 37 12 22061131 22061131 + Silent SNP C C A TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr12:22061131C>A ENST00000261200.4 - 9 1334 c.1335G>T c.(1333-1335)gtG>gtT p.V445V ABCC9_ENST00000345162.2_Silent_p.V445V|ABCC9_ENST00000261201.4_Silent_p.V445V NM_020297.2 NP_064693.2 O60706 ABCC9_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 9 445 ABC transmembrane type-1 1. defense response to virus|potassium ion import ATP-sensitive potassium channel complex ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5) 118 Adenosine triphosphate(DB00171)|Glibenclamide(DB01016) AGAGCAGAATCACGCCCATTA 0.408000 9 34 0.00621372 0.00686665 1 1 0 RYR1 6261 broad.mit.edu 37 19 38993575 38993575 + Missense_Mutation SNP C C T TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr19:38993575C>T ENST00000355481.4 + 49 8022 c.7891C>T c.(7891-7893)Ccc>Tcc p.P2631S RYR1_ENST00000360985.3_Missense_Mutation_p.P2631S|RYR1_ENST00000359596.3_Missense_Mutation_p.P2631S NM_000540.2|NM_001042723.1 NP_000531.2|NP_001036188.1 P21817 RYR1_HUMAN ryanodine receptor 1 (skeletal) 2631 6 X approximate repeats. muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7) 285 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) GTTCGACGTGCCCATCCTCAA 0.602000 4 30 0 0 1 0 0 OR10AG1 282770 broad.mit.edu 37 11 55735372 55735372 + Missense_Mutation SNP C C A TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr11:55735372C>A ENST00000312345.2 - 1 618 c.568G>T c.(568-570)Gtc>Ttc p.V190F NM_001005491.1 NP_001005491.1 Q8NH19 O10AG_HUMAN olfactory receptor, family 10, subfamily AG, member 1 190 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(24)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 40 Esophageal squamous(21;0.0137) ACTACATGGACTGTTATCTCA 0.388000 14 37 7.93312e-07 1.03212e-06 1 1 0 ORC3 23595 broad.mit.edu 37 6 88315679 88315679 + Nonsense_Mutation SNP G G T TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr6:88315679G>T ENST00000392844.3 + 5 415 c.367G>T c.(367-369)Gag>Tag p.E123* ORC3_ENST00000257789.4_Nonsense_Mutation_p.E123*|ORC3_ENST00000546266.1_5'UTR|ORC3_ENST00000417380.2_Nonsense_Mutation_p.E70* NM_012381.3|NM_181837.2 NP_036513.2|NP_862820.1 Q9UBD5 ORC3_HUMAN origin recognition complex, subunit 3 123 cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle nuclear origin of replication recognition complex|nucleoplasm DNA replication origin binding|protein binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 28 AAGTCTAACAGAGGCCCTTCA 0.313000 13 94 4.7546e-09 6.47982e-09 1 1 0 MYO18B 84700 broad.mit.edu 37 22 26294300 26294300 + Silent SNP C C T TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr22:26294300C>T ENST00000335473.7 + 29 4945 c.4695C>T c.(4693-4695)gaC>gaT p.D1565D CTA-125H2.2_ENST00000607895.1_RNA|MYO18B_ENST00000536101.1_Silent_p.D1565D|CTA-125H2.2_ENST00000453457.3_RNA|MYO18B_ENST00000407587.2_Silent_p.D1566D|CTA-125H2.2_ENST00000609570.1_RNA|CTA-125H2.2_ENST00000597284.1_RNA|CTA-125H2.2_ENST00000600211.1_RNA|CTA-125H2.2_ENST00000608257.1_RNA|CTA-125H2.2_ENST00000609823.1_RNA|CTA-125H2.2_ENST00000608115.1_RNA|CTA-125H2.2_ENST00000608507.1_RNA|CTA-125H2.2_ENST00000594542.1_RNA|CTA-125H2.2_ENST00000609157.1_RNA|CTA-125H2.2_ENST00000594856.1_RNA|CTA-125H2.2_ENST00000600269.1_RNA|CTA-125H2.2_ENST00000599080.1_RNA|CTA-125H2.2_ENST00000594585.1_RNA|CTA-125H2.2_ENST00000609889.1_RNA|CTA-125H2.2_ENST00000599792.1_RNA|CTA-125H2.2_ENST00000595102.1_RNA|CTA-125H2.2_ENST00000609275.1_RNA|CTA-125H2.2_ENST00000597548.1_RNA|CTA-125H2.2_ENST00000600903.1_RNA NM_032608.5 NP_115997.5 Q8IUG5 MY18B_HUMAN myosin XVIIIB 1565 Tail. nucleus|sarcomere|unconventional myosin complex actin binding|ATP binding|motor activity NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 146 GTGCTTATGACGGGGCCAAGA 0.473000 8 32 0 0 1 0 0 C11orf70 85016 broad.mit.edu 37 11 101937236 101937236 + Missense_Mutation SNP G G A TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr11:101937236G>A ENST00000434758.2 + 4 317 c.289G>A c.(289-291)Gaa>Aaa p.E97K C11orf70_ENST00000534360.1_Intron|C11orf70_ENST00000526781.1_Missense_Mutation_p.E97K NM_032930.2 NP_116319.2 Q9BRQ4 CK070_HUMAN chromosome 11 open reading frame 70 97 breast(1)|kidney(1)|lung(5)|ovary(1)|prostate(2)|skin(2) 12 all_epithelial(12;0.0137) Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.0137) Lung(13;0.245) BRCA - Breast invasive adenocarcinoma(274;0.0335) GAAAAAAATTGAAGCTATAAA 0.274000 14 131 0 0 1 0 0 SPTA1 6708 broad.mit.edu 37 1 158609748 158609748 + Missense_Mutation SNP G G T TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr1:158609748G>T ENST00000368147.4 - 34 4967 c.4787C>A c.(4786-4788)aCa>aAa p.T1596K NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 (elliptocytosis 2) actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6) 307 all_hematologic(112;0.0378) TTTGTCATTTGTTCTCTCAAG 0.493000 8 85 0.00448238 0.00501486 1 1 0 RTP1 132112 broad.mit.edu 37 3 186917786 186917786 + Silent SNP C C T TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr3:186917786C>T ENST00000312295.4 + 2 750 c.720C>T c.(718-720)ccC>ccT p.P240P RP11-208N14.4_ENST00000356133.3_RNA NM_153708.2 NP_714919.2 P59025 RTP1_HUMAN receptor (chemosensory) transporter protein 1 240 protein insertion into membrane cell surface|integral to membrane|plasma membrane olfactory receptor binding breast(2)|endometrium(4)|large_intestine(5)|lung(6)|ovary(3)|skin(2) 22 all_cancers(143;5.33e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;5.56e-18) GBM - Glioblastoma multiforme(93;0.0269) GCTCTATCCCCTGGTGCTTGT 0.607000 7 68 0 0 1 0 0 CCDC8 83987 broad.mit.edu 37 19 46914756 46914756 + Missense_Mutation SNP C C A TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr19:46914756C>A ENST00000307522.3 - 1 2085 c.1312G>T c.(1312-1314)Gca>Tca p.A438S NM_032040.4 NP_114429.2 Q9H0W5 CCDC8_HUMAN coiled-coil domain containing 8 438 plasma membrane breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 23 OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421) GCAGCCTCTGCCCTCTGGCCA 0.612000 4 34 0.00909568 0.00992971 1 1 0 PPHLN1 51535 broad.mit.edu 37 12 42768741 42768741 + Missense_Mutation SNP G G A TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr12:42768741G>A ENST00000432191.2 + 4 283 c.211G>A c.(211-213)Gac>Aac p.D71N PPHLN1_ENST00000552761.1_Missense_Mutation_p.D78N|PPHLN1_ENST00000317560.9_Missense_Mutation_p.D78N|PPHLN1_ENST00000256678.8_Missense_Mutation_p.D25N|PPHLN1_ENST00000395580.3_Missense_Mutation_p.D133N|PPHLN1_ENST00000395568.2_Missense_Mutation_p.D126N|PPHLN1_ENST00000449194.2_Missense_Mutation_p.D126N|PPHLN1_ENST00000549190.1_Missense_Mutation_p.D144N|PPHLN1_ENST00000337898.6_Missense_Mutation_p.D71N|PPHLN1_ENST00000358314.7_Missense_Mutation_p.D126N NM_001143787.1 NP_001137259.1 Q8NEY8 PPHLN_HUMAN periphilin 1 126 keratinization cytoplasm|nucleus breast(5)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1) 16 all_cancers(12;0.00049)|Breast(8;0.165) Lung NSC(34;0.123) GBM - Glioblastoma multiforme(48;0.0875) TTATAAAAGGGACAATACTTT 0.408000 23 52 0 0 1 0 0 USH1C 10083 broad.mit.edu 37 11 17544788 17544788 + Silent SNP G G A TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr11:17544788G>A ENST00000005226.7 - 11 845 c.846C>T c.(844-846)cgC>cgT p.R282R USH1C_ENST00000318024.4_Silent_p.R282R|USH1C_ENST00000527720.1_Silent_p.R251R|USH1C_ENST00000527020.1_Intron NM_153676.3 NP_710142.1 Q9Y6N9 USH1C_HUMAN Usher syndrome 1C (autosomal recessive, severe) 282 PDZ 2. equilibrioception|G2/M transition of mitotic cell cycle|photoreceptor cell maintenance|sensory perception of sound apical part of cell|cytoplasm|stereocilium protein binding central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1) 48 TGGTCAGGCTGCGGCTACTCT 0.587000 6 61 0 0 1 0 0 PSTPIP1 9051 broad.mit.edu 37 15 77328221 77328221 + Missense_Mutation SNP G G A TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr15:77328221G>A ENST00000558012.1 + 14 1553 c.1064G>A c.(1063-1065)gGa>gAa p.G355E PSTPIP1_ENST00000557995.1_3'UTR|PSTPIP1_ENST00000379595.3_Missense_Mutation_p.G352E|PSTPIP1_ENST00000267939.5_Missense_Mutation_p.G335E|PSTPIP1_ENST00000559295.1_Missense_Mutation_p.G336E NM_003978.3 NP_003969.2 O43586 PPIP1_HUMAN proline-serine-threonine phosphatase interacting protein 1 355 cell adhesion|signal transduction cleavage furrow|lamellipodium|perinuclear region of cytoplasm catalytic activity breast(1)|endometrium(3)|lung(2)|ovary(2)|upper_aerodigestive_tract(1) 9 GAGATACAGGGAAACCCGGCC 0.612000 3 8 0 0 1 0 0 ARHGAP9 64333 broad.mit.edu 37 12 57870388 57870388 + Missense_Mutation SNP C C T rs139460885 TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr12:57870388C>T ENST00000393797.2 - 10 1415 c.1223G>A c.(1222-1224)gGg>gAg p.G408E ARHGAP9_ENST00000550454.1_5'UTR|ARHGAP9_ENST00000424809.2_Missense_Mutation_p.G337E|ARHGAP9_ENST00000393791.3_Missense_Mutation_p.G337E|ARHGAP9_ENST00000550288.1_Missense_Mutation_p.G416E|ARHGAP9_ENST00000356411.2_Missense_Mutation_p.G337E|ARHGAP9_ENST00000430041.2_Missense_Mutation_p.G153E Q9BRR9 RHG09_HUMAN Rho GTPase activating protein 9 337 PH. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|protein binding endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(1) 30 GBM - Glioblastoma multiforme(3;3.37e-34) CTTGCGCCCCCCTTGGGCAAT 0.577000 27 59 0 0 1 0 0 ACTB 60 broad.mit.edu 37 7 5567439 5567439 + Missense_Mutation SNP C C G TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr7:5567439C>G ENST00000331789.5 - 6 1259 c.1068G>C c.(1066-1068)tgG>tgC p.W356C ACTB_ENST00000464611.1_5'UTR NM_001101.3 NP_001092.1 P60709 ACTB_HUMAN actin, beta 356 'de novo' posttranslational protein folding|adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement cytoskeleton|cytosol|MLL5-L complex|NuA4 histone acetyltransferase complex|ribonucleoprotein complex ATP binding|kinesin binding|nitric-oxide synthase binding|structural constituent of cytoskeleton NS(1)|central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(2) 8 Ovarian(82;0.0606) UCEC - Uterine corpus endometrioid carcinoma (126;0.175)|OV - Ovarian serous cystadenocarcinoma(56;4.24e-37) GCTTGCTGATCCACATCTGCT 0.567000 8 129 0 0 1 0 0 DGKB 1607 broad.mit.edu 37 7 14758228 14758228 + Silent SNP C C T TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr7:14758228C>T ENST00000403951.2 - 6 824 c.405G>A c.(403-405)ctG>ctA p.L135L DGKB_ENST00000444700.2_Silent_p.L128L|DGKB_ENST00000258767.5_Silent_p.L135L|DGKB_ENST00000402815.1_Silent_p.L135L|DGKB_ENST00000406247.3_Silent_p.L135L|DGKB_ENST00000407950.1_Silent_p.L128L|DGKB_ENST00000403963.1_5'UTR|DGKB_ENST00000399322.3_Silent_p.L135L Q9Y6T7 DGKB_HUMAN diacylglycerol kinase, beta 90kDa 135 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation cytoplasm|plasma membrane ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 72 Phosphatidylserine(DB00144) CAATGTCCTTCAGATGGATTA 0.428000 3 20 0 0 1 0 0 MTFMT 123263 broad.mit.edu 37 15 65297264 65297264 + Missense_Mutation SNP T T A TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr15:65297264T>A ENST00000220058.4 - 8 916 c.903A>T c.(901-903)ttA>ttT p.L301F NM_139242.3 NP_640335.2 Q96DP5 FMT_HUMAN mitochondrial methionyl-tRNA formyltransferase 301 mitochondrion methionyl-tRNA formyltransferase activity|methyltransferase activity endometrium(1)|large_intestine(3)|lung(3)|ovary(3) 10 Tetrahydrofolic acid(DB00116) CCTGTCCCGTTAATTTTGGAT 0.308000 6 27 0 0 1 0 0 PSMA5 5686 broad.mit.edu 37 1 109964526 109964526 + Missense_Mutation SNP C C T TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr1:109964526C>T ENST00000271308.4 - 2 72 c.52G>A c.(52-54)Gaa>Aaa p.E18K PSMA5_ENST00000490870.1_5'UTR|PSMA5_ENST00000538610.1_Intron NM_002790.3 NP_002781.2 P28066 PSA5_HUMAN proteasome (prosome, macropain) subunit, alpha type, 5 18 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction cytoplasm|nucleus|proteasome core complex, alpha-subunit complex protein binding|threonine-type endopeptidase activity kidney(1)|large_intestine(2)|lung(2) 5 all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244) Lung(183;0.045)|Colorectal(144;0.116)|Epithelial(280;0.187)|all cancers(265;0.196)|LUSC - Lung squamous cell carcinoma(189;0.235) AATCTTCCTTCGGGAGAAAAA 0.343000 5 46 0 0 1 0 0 GABPB2 126626 broad.mit.edu 37 1 151070408 151070408 + Silent SNP C C T TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr1:151070408C>T ENST00000368918.3 + 5 883 c.552C>T c.(550-552)ttC>ttT p.F184F GABPB2_ENST00000368917.1_Silent_p.F184F|GABPB2_ENST00000467551.1_3'UTR|GABPB2_ENST00000368916.1_Silent_p.F184F NM_144618.2 NP_653219.1 Q8TAK5 GABP2_HUMAN GA binding protein transcription factor, beta subunit 2 184 positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus protein heterodimerization activity|transcription regulatory region DNA binding breast(1)|endometrium(2)|large_intestine(3)|liver(2)|lung(7) 15 all cancers(107;7.17e-05)|GBM - Glioblastoma multiforme(94;0.000662) CTGCTCCATTCATCTTCACGT 0.428000 7 73 0 0 1 0 0 SEC14L1 6397 broad.mit.edu 37 17 75187290 75187290 + Missense_Mutation SNP G G T TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr17:75187290G>T ENST00000413679.2 + 5 544 c.241G>T c.(241-243)Gtc>Ttc p.V81F SEC14L1_ENST00000591437.1_Missense_Mutation_p.V47F|SEC14L1_ENST00000392476.2_Missense_Mutation_p.V81F|SEC14L1_ENST00000443798.4_Missense_Mutation_p.V81F|SEC14L1_ENST00000430767.4_Missense_Mutation_p.V81F|SEC14L1_ENST00000436233.4_Missense_Mutation_p.V81F|SEC14L1_ENST00000431431.2_Missense_Mutation_p.V47F|SEC14L1_ENST00000585618.1_Missense_Mutation_p.V81F NM_001143998.1|NM_001143999.1|NM_003003.3 NP_001137470|NP_001137471|NP_002994 Q92503 S14L1_HUMAN SEC14-like 1 (S. cerevisiae) 81 PRELI/MSF1. transport Golgi apparatus|integral to membrane binding NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(2) 31 TGTTTATTTTGTCCAGAAAAA 0.338000 16 134 6.72482e-11 9.34662e-11 1 1 0 HELZ 9931 broad.mit.edu 37 17 65214778 65214778 + Missense_Mutation SNP C C A TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr17:65214778C>A ENST00000358691.5 - 4 309 c.143G>T c.(142-144)tGt>tTt p.C48F HELZ_ENST00000580662.1_5'UTR|HELZ_ENST00000580168.1_Missense_Mutation_p.C48F NM_014877.3 NP_055692 helicase with zinc finger NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13) TTCCAATGGACAAGGCCCTGT 0.458000 20 72 8.10497e-08 1.09046e-07 1 1 0 PEX1 5189 broad.mit.edu 37 7 92120771 92120771 + Missense_Mutation SNP C C G TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr7:92120771C>G ENST00000248633.4 - 21 3348 c.3253G>C c.(3253-3255)Gtc>Ctc p.V1085L AC007566.10_ENST00000427458.1_RNA|PEX1_ENST00000428214.1_Missense_Mutation_p.V1028L|AC007566.10_ENST00000441539.1_RNA|PEX1_ENST00000438045.1_Missense_Mutation_p.V763L NM_000466.2 NP_000457.1 O43933 PEX1_HUMAN peroxisomal biogenesis factor 1 1085 microtubule-based peroxisome localization|protein import into peroxisome matrix cytosol|nucleus|peroxisomal membrane ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592) Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123) GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23) TTAAGAAAGACCATTGAAGAC 0.413000 6 58 0 0 1 0 0 ARRB2 409 broad.mit.edu 37 17 4621908 4621908 + Splice_Site SNP G G A TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr17:4621908G>A ENST00000269260.2 + 10 941 c.708G>A c.(706-708)gtG>gtA p.V236V ARRB2_ENST00000572457.1_Splice_Site_p.V44V|ARRB2_ENST00000412477.3_Splice_Site_p.V257V|ARRB2_ENST00000574954.1_Splice_Site_p.V44V|ARRB2_ENST00000381488.6_Splice_Site_p.V221V|ARRB2_ENST00000571206.1_Splice_Site_p.V44V|ARRB2_ENST00000346341.2_Splice_Site_p.V221V|ARRB2_ENST00000575877.1_Splice_Site_p.V236V NM_001257328.1|NM_001257330.1|NM_004313.3 NP_001244257.1|NP_001244259.1|NP_004304.1 P32121 ARRB2_HUMAN arrestin, beta 2 236 cell chemotaxis|desensitization of G-protein coupled receptor protein signaling pathway by arrestin|G-protein coupled receptor internalization|negative regulation of natural killer cell mediated cytotoxicity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|platelet activation|positive regulation of ERK1 and ERK2 cascade|proteasomal ubiquitin-dependent protein catabolic process|protein transport|protein ubiquitination|transcription from RNA polymerase II promoter|transforming growth factor beta receptor signaling pathway coated pit|cytoplasmic membrane-bounded vesicle|cytosol|nucleus|plasma membrane angiotensin receptor binding|ubiquitin protein ligase binding p.V236V(1) large_intestine(1)|liver(2)|lung(3)|prostate(1) 7 ACCCCACAGTGAGACAGTACG 0.612000 8 80 0 0 1 0 0 TXNDC2 84203 broad.mit.edu 37 18 9886691 9886691 + Missense_Mutation SNP C C A TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr18:9886691C>A ENST00000357775.5 + 2 249 c.14C>A c.(13-15)aCg>aAg p.T5K TXNDC2_ENST00000426718.3_3'UTR|TXNDC2_ENST00000536353.2_Missense_Mutation_p.T5K|TXNDC2_ENST00000306084.6_Missense_Mutation_p.T72K NM_032243.5 NP_115619.4 Q86VQ3 TXND2_HUMAN thioredoxin domain containing 2 (spermatozoa) cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis cytoplasm electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1) 31 GTCAGCCACACGTTCCACATG 0.567000 5 34 0.0215528 0.0229339 1 1 0 DMTF1 9988 broad.mit.edu 37 7 86817604 86817604 + Silent SNP G G A TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr7:86817604G>A ENST00000414194.2 + 13 2392 c.600G>A c.(598-600)caG>caA p.Q200Q DMTF1_ENST00000331242.7_Silent_p.Q466Q|DMTF1_ENST00000432937.2_Silent_p.Q378Q|DMTF1_ENST00000413276.2_Intron|DMTF1_ENST00000394703.5_Silent_p.Q466Q Q9Y222 DMTF1_HUMAN cyclin D binding myb-like transcription factor 1 466 Interaction with CCND1, CCND2 and CCND3 (By similarity).|Interaction with CCND2 (By similarity).|Required for DNA-binding (By similarity). cell cycle cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|ovary(1) 16 Esophageal squamous(14;0.0058) TTCCAGTCCAGATCACCCATG 0.418000 7 94 0 0 1 0 0 MAP4 4134 broad.mit.edu 37 3 47960221 47960221 + Nonsense_Mutation SNP G G A TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr3:47960221G>A ENST00000426837.2 - 7 778 c.691C>T c.(691-693)Cag>Tag p.Q231* MAP4_ENST00000395734.3_Nonsense_Mutation_p.Q214*|MAP4_ENST00000383737.4_Nonsense_Mutation_p.Q214*|MAP4_ENST00000360240.6_Nonsense_Mutation_p.Q214* P27816 MAP4_HUMAN microtubule-associated protein 4 214 negative regulation of microtubule depolymerization cytoplasm|microtubule|microtubule associated complex protein binding|structural molecule activity breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(2) 32 BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736) GCCGTTGGCTGAGGAGGTTCT 0.448000 4 40 0 0 1 0 0 SIPA1L3 23094 broad.mit.edu 37 19 38689051 38689051 + Silent SNP C C G TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr19:38689051C>G ENST00000222345.6 + 19 5372 c.4863C>G c.(4861-4863)ctC>ctG p.L1621L NM_015073.1 NP_055888.1 O60292 SI1L3_HUMAN signal-induced proliferation-associated 1 like 3 1621 regulation of small GTPase mediated signal transduction intracellular GTPase activator activity NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3) 59 Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292) CCTCGGAGCTCTCGCTGGCTG 0.637000 17 144 0 0 1 0 0 CAPS2 84698 broad.mit.edu 37 12 75683421 75683421 + Missense_Mutation SNP G G T TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr12:75683421G>T ENST00000393284.3 - 14 1337 c.736C>A c.(736-738)Cac>Aac p.H246N CAPS2_ENST00000409004.1_5'UTR|CAPS2_ENST00000442339.2_Missense_Mutation_p.H68N|CAPS2_ENST00000409445.3_Missense_Mutation_p.H478N|CAPS2_ENST00000409799.1_Missense_Mutation_p.H396N|RP11-560G2.1_ENST00000549953.1_RNA Q9BXY5 CAYP2_HUMAN calcyphosine 2 478 calcium ion binding endometrium(2)|large_intestine(1)|lung(4)|ovary(2)|skin(1) 10 ACTTCTAAGTGAAACACTTTT 0.338000 6 64 0.0215528 0.0229339 1 1 0 INSRR 3645 broad.mit.edu 37 1 156821123 156821123 + Missense_Mutation SNP G G C TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr1:156821123G>C ENST00000368195.3 - 5 1584 c.1188C>G c.(1186-1188)ttC>ttG p.F396L NTRK1_ENST00000392302.2_Intron NM_014215.2 NP_055030.1 P14616 INSRR_HUMAN insulin receptor-related receptor 396 protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2) 42 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) TGAGGTTCTTGAAAAAGCCCA 0.542000 15 136 0 0 1 0 0 NAV2 89797 broad.mit.edu 37 11 20065659 20065659 + Missense_Mutation SNP G G C TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr11:20065659G>C ENST00000396085.1 + 13 3401 c.3040G>C c.(3040-3042)Gat>Cat p.D1014H NAV2_ENST00000540292.1_Missense_Mutation_p.D968H|NAV2_ENST00000311043.8_Missense_Mutation_p.D100H|NAV2_ENST00000527559.2_Missense_Mutation_p.D966H|NAV2_ENST00000533917.1_Missense_Mutation_p.D100H|NAV2_ENST00000349880.4_Missense_Mutation_p.D1014H|NAV2_ENST00000396087.3_Missense_Mutation_p.D1037H|NAV2_ENST00000360655.4_Missense_Mutation_p.D950H|NAV2-AS2_ENST00000533767.1_RNA NM_182964.5 NP_892009.3 Q8IVL1 NAV2_HUMAN neuron navigator 2 1037 nucleus ATP binding|helicase activity NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 116 GAATCCTTCTGATGTGTCTGA 0.542000 6 67 0 0 1 0 0 ARPC1A 10552 broad.mit.edu 37 7 98951688 98951688 + Silent SNP G G T TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr7:98951688G>T ENST00000432884.2 + 8 977 c.516G>T c.(514-516)ctG>ctT p.L172L ARPC1A_ENST00000262942.5_Silent_p.L219L|ARPC1A_ENST00000471960.1_3'UTR Q92747 ARC1A_HUMAN actin related protein 2/3 complex, subunit 1A, 41kDa 219 actin cytoskeleton organization|regulation of actin filament polymerization actin cytoskeleton|cytoplasm actin binding endometrium(3)|large_intestine(5)|liver(2)|lung(7)|ovary(1)|prostate(1) 19 all_cancers(62;4.46e-09)|all_epithelial(64;3.44e-10)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0258) STAD - Stomach adenocarcinoma(171;0.215) GGAGCCGCCTGGCCTGGGTCA 0.577000 14 36 4.93089e-13 6.89887e-13 1 1 0 WNT9B 7484 broad.mit.edu 37 17 44953783 44953783 + Missense_Mutation SNP G G T rs149931425 by1000genomes TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr17:44953783G>T ENST00000393461.2 + 4 826 c.773G>T c.(772-774)cGc>cTc p.R258L WNT9B_ENST00000290015.2_Missense_Mutation_p.R258L O14905 WNT9B_HUMAN wingless-type MMTV integration site family, member 9B 258 anterior/posterior pattern formation|axis specification|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|collecting duct development|cornea development in camera-type eye|endoderm development|establishment of planar polarity involved in nephron morphogenesis|kidney rudiment formation|male genitalia development|mesonephric duct formation|metanephric tubule development|neuron differentiation|palate development|regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|uterus morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway|Wnt receptor signaling pathway, planar cell polarity pathway extracellular space|plasma membrane|proteinaceous extracellular matrix extracellular matrix structural constituent|G-protein-coupled receptor binding large_intestine(2)|lung(8) 10 BRCA - Breast invasive adenocarcinoma(9;0.0257) GCCTTGGGCCGCCTAGAGCTG 0.642000 14 61 3.45872e-05 4.27094e-05 1 1 0 BCL11A 53335 broad.mit.edu 37 2 60687791 60687791 + Missense_Mutation SNP C C G TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr2:60687791C>G ENST00000335712.6 - 4 2483 c.2256G>C c.(2254-2256)aaG>aaC p.K752N BCL11A_ENST00000538214.1_Missense_Mutation_p.K718N|BCL11A_ENST00000356842.4_Intron|BCL11A_ENST00000358510.4_Missense_Mutation_p.K718N|BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000359629.5_Intron|BCL11A_ENST00000537768.1_Intron NM_022893.3 NP_075044.2 Q9H165 BC11A_HUMAN B-cell CLL/lymphoma 11A (zinc finger protein) 752 negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding p.K752K(1) NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 59 LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199) TGCTACAGTTCTTGAAGACTT 0.562000 T IGH@ B-CLL 5 95 0 0 1 0 0 TTC40 54777 broad.mit.edu 37 10 134743185 134743185 + Silent SNP C C G TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr10:134743185C>G ENST00000368585.3 - 9 1328 c.990G>C c.(988-990)ctG>ctC p.L330L TTC40_ENST00000368586.5_Intron|TTC40_ENST00000368582.2_Intron Q8IYW2 CJ092_HUMAN tetratricopeptide repeat domain 40 0 breast(1)|endometrium(5)|lung(19)|urinary_tract(3) 28 CATCCCCAGGCAGCAGTGTCA 0.552000 12 66 0 0 1 0 0 C11orf48 79081 broad.mit.edu 37 11 62435193 62435193 + Silent SNP T T G TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr11:62435193T>G ENST00000431002.2 - 2 2151 c.418A>C c.(418-420)Aga>Cga p.R140R C11orf48_ENST00000354588.3_Silent_p.R114R|C11orf48_ENST00000532208.1_Silent_p.R114R|METTL12_ENST00000532971.1_3'UTR Q9BQE6 CK048_HUMAN chromosome 11 open reading frame 48 140 endometrium(1)|lung(5)|urinary_tract(1) 7 AAAGGACTTCTAGGGTCCTGT 0.478000 26 135 0 0 1 0 0 UGT3A1 133688 broad.mit.edu 37 5 35965696 35965696 + Missense_Mutation SNP C C T TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr5:35965696C>T ENST00000274278.3 - 4 992 c.635G>A c.(634-636)aGg>aAg p.R212K UGT3A1_ENST00000333811.4_Missense_Mutation_p.R158K|UGT3A1_ENST00000513233.1_Intron|UGT3A1_ENST00000503189.1_Missense_Mutation_p.R212K|UGT3A1_ENST00000507113.1_Missense_Mutation_p.R178K NM_152404.3 NP_689617.3 Q6NUS8 UD3A1_HUMAN UDP glycosyltransferase 3 family, polypeptide A1 212 integral to membrane glucuronosyltransferase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4) 46 all_lung(31;0.000197) Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) CCATTGGCTCCTGGAGAAACT 0.463000 3 50 0 0 1 0 0 TXNDC15 79770 broad.mit.edu 37 5 134232072 134232072 + Nonsense_Mutation SNP C C T TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr5:134232072C>T ENST00000358387.4 + 4 1469 c.844C>T c.(844-846)Cga>Tga p.R282* TXNDC15_ENST00000546290.1_Nonsense_Mutation_p.R259* NM_024715.3 NP_078991.3 Q96J42 TXD15_HUMAN thioredoxin domain containing 15 282 Thioredoxin. cell redox homeostasis integral to membrane breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1) 17 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) TCATACAGATCGAACACTGGA 0.388000 8 91 0 0 1 0 0 SYT2 127833 broad.mit.edu 37 1 202568381 202568381 + Missense_Mutation SNP A A T TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr1:202568381A>T ENST00000367267.1 - 8 1210 c.1018T>A c.(1018-1020)Tcc>Acc p.S340T SYT2_ENST00000367268.4_Missense_Mutation_p.S340T NM_001136504.1 NP_001129976.1 Q8N9I0 SYT2_HUMAN synaptotagmin II 340 C2 2.|Phospholipid binding (By similarity). neurotransmitter secretion cell junction|chromaffin granule membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane protein binding|transporter activity NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|ovary(2)|skin(2)|urinary_tract(1) 29 BRCA - Breast invasive adenocarcinoma(75;0.169) Botulinum Toxin Type B(DB00042) AAGCTGAAGGACTCGTTGAAG 0.527000 6 79 0 0 1 0 0 MYO1G 64005 broad.mit.edu 37 7 45016595 45016595 + Silent SNP C C A TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr7:45016595C>A ENST00000258787.7 - 2 307 c.171G>T c.(169-171)ctG>ctT p.L57L NM_033054.2 NP_149043.2 B0I1T2 MYO1G_HUMAN myosin IG 57 Myosin head-like. myosin complex|plasma membrane actin binding|ATP binding|calmodulin binding|motor activity breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|skin(4) 28 CAGGCCCATACAGGGGCAGCT 0.622000 7 37 5.18039e-06 6.60369e-06 1 1 0 CDH26 60437 broad.mit.edu 37 20 58559852 58559852 + Missense_Mutation SNP G G C rs150010707 byFrequency TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr20:58559852G>C ENST00000348616.4 + 6 1000 c.700G>C c.(700-702)Gat>Cat p.D234H CDH26_ENST00000244047.5_Missense_Mutation_p.D234H NM_177980.2 NP_817089.1 Q8IXH8 CAD26_HUMAN cadherin 26 234 Cadherin 2. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1) 44 all_lung(29;0.00963) BRCA - Breast invasive adenocarcinoma(7;5.58e-09) TGGCTGCTTAGATTATGAGGT 0.408000 22 87 0 0 1 0 0 AP3B2 8120 broad.mit.edu 37 15 83334319 83334319 + Missense_Mutation SNP G G C TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr15:83334319G>C ENST00000261722.3 - 16 2068 c.1861C>G c.(1861-1863)Cac>Gac p.H621D AP3B2_ENST00000535359.1_Missense_Mutation_p.H621D|AP3B2_ENST00000535348.1_Missense_Mutation_p.H589D|RP11-752G15.3_ENST00000560650.1_RNA NM_004644.3 NP_004635.2 Q13367 AP3B2_HUMAN adaptor-related protein complex 3, beta 2 subunit 621 endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport clathrin coated vesicle membrane|COPI-coated vesicle|membrane coat binding|protein transporter activity breast(4)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(2) 41 BRCA - Breast invasive adenocarcinoma(143;0.229) AGCTGGAAGTGGTCCCGGTCT 0.602000 5 51 0 0 1 0 0 ANO9 338440 broad.mit.edu 37 11 418916 418916 + Missense_Mutation SNP C C G TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr11:418916C>G ENST00000332826.6 - 21 2092 c.2008G>C c.(2008-2010)Gag>Cag p.E670Q NM_001012302.2 NP_001012302 A1A5B4 ANO9_HUMAN anoctamin 9 670 chloride channel complex chloride channel activity central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|lung(5)|ovary(1)|prostate(4)|skin(4) 21 TCTGAGCCCTCAATCCCATCA 0.587000 16 146 0 0 1 0 0 POTEC 388468 broad.mit.edu 37 18 14543047 14543047 + Silent SNP G G A TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr18:14543047G>A ENST00000358970.5 - 1 98 c.99C>T c.(97-99)ccC>ccT p.P33P POTEC_ENST00000389891.4_5'UTR NM_001137671.1 NP_001131143.1 B2RU33 POTEC_HUMAN POTE ankyrin domain family, member C 33 NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3) 52 CCTTGCAGCAGGGGAAGCGGT 0.552000 14 141 0 0 1 0 0 LRRK2 120892 broad.mit.edu 37 12 40677743 40677743 + Missense_Mutation SNP G G A TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr12:40677743G>A ENST00000298910.7 + 19 2366 c.2308G>A c.(2308-2310)Gat>Aat p.D770N LRRK2_ENST00000343742.2_Missense_Mutation_p.D770N NM_198578.3 NP_940980 Q5S007 LRRK2_HUMAN leucine-rich repeat kinase 2 770 activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb external side of mitochondrial outer membrane ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2) 181 all_cancers(12;0.00108)|Breast(8;0.218) Lung NSC(34;0.0942)|all_lung(34;0.11) TCGTGAACAAGATGTACGAAA 0.403000 18 47 0 0 1 0 0 PPP1R3A 5506 broad.mit.edu 37 7 113558279 113558279 + Missense_Mutation SNP A A C TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr7:113558279A>C ENST00000284601.3 - 1 841 c.773T>G c.(772-774)gTa>gGa p.V258G NM_002711.3 NP_002702.2 Q16821 PPR3A_HUMAN protein phosphatase 1, regulatory subunit 3A 258 glycogen metabolic process integral to membrane NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2) 121 CCTTGATTTTACCTTTAAGCA 0.299000 17 104 0 0 1 0 0 BAI3 577 broad.mit.edu 37 6 70040457 70040457 + Missense_Mutation SNP T T C TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr6:70040457T>C ENST00000370598.1 + 23 3916 c.3095T>C c.(3094-3096)gTt>gCt p.V1032A BAI3_ENST00000238918.8_Missense_Mutation_p.V238A NM_001704.2 NP_001695 O60242 BAI3_HUMAN brain-specific angiogenesis inhibitor 3 1032 negative regulation of angiogenesis|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 210 all_lung(197;0.212) GCAGCCGCTGTTGTCCTGGTA 0.358000 5 31 0 0 1 0 0 TLR4 7099 broad.mit.edu 37 9 120470957 120470957 + Silent SNP C C G TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr9:120470957C>G ENST00000355622.6 + 2 311 c.210C>G c.(208-210)ggC>ggG p.G70G TLR4_ENST00000472304.1_Intron|TLR4_ENST00000394487.4_Silent_p.G30G NM_138554.4|NM_138557.2 NP_612564.1|NP_612567.1 O00206 TLR4_HUMAN toll-like receptor 4 70 activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm lipopolysaccharide receptor activity|transmembrane receptor activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1) 103 GGCATTTAGGCAGCTATAGCT 0.453000 6 92 0 0 1 0 0 KRTAP4-6 81871 broad.mit.edu 37 17 39296627 39296627 + Missense_Mutation SNP G G T TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr17:39296627G>T ENST00000345847.4 - 1 112 c.113C>A c.(112-114)cCc>cAc p.P38H NM_030976.1 NP_112238.1 Q9BYQ5 KRA46_HUMAN keratin associated protein 4-6 38 29 X 5 AA repeats of C-C-[IRQVEL]-[SPTR]- [STVQRCP]. keratin filament endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1) 9 ACAGCAGCTGGGGCGGCAGCA 0.667000 8 38 0.000157383 0.000187375 1 1 0 IGSF10 285313 broad.mit.edu 37 3 151171209 151171209 + Silent SNP A A G TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr3:151171209A>G ENST00000282466.3 - 3 677 c.678T>C c.(676-678)caT>caC p.H226H NM_001178145.1|NM_001178146.1|NM_178822.4 NP_001171616.1|NP_001171617.1|NP_849144.2 Q6WRI0 IGS10_HUMAN immunoglobulin superfamily, member 10 226 LRRCT. cell differentiation|multicellular organismal development|ossification extracellular region NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3) 116 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) ACCACTTTAAATGGCAATCAC 0.433000 24 71 0 0 1 0 0 ANAPC16 119504 broad.mit.edu 37 10 73992771 73992771 + Missense_Mutation SNP C C G rs138956935 TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr10:73992771C>G ENST00000299381.4 + 4 348 c.230C>G c.(229-231)gCt>gGt p.A77G ANAPC16_ENST00000470481.2_3'UTR NM_001242546.1|NM_001242547.1|NM_001242548.1|NM_173473.3 NP_001229475.1|NP_001229476.1|NP_001229477.1|NP_775744.1 Q96DE5 APC16_HUMAN anaphase promoting complex subunit 16 77 cell division|mitosis|protein ubiquitination anaphase-promoting complex|cytoplasm large_intestine(1)|ovary(1) 2 CAGCAAGTTGCTCGGATGGAA 0.483000 9 37 0 0 1 0 0 CNKSR2 22866 broad.mit.edu 37 X 21534627 21534627 + Missense_Mutation SNP G G C TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chrX:21534627G>C ENST00000425654.2 + 9 1315 c.835G>C c.(835-837)Gtg>Ctg p.V279L CNKSR2_ENST00000543067.1_Intron|CNKSR2_ENST00000279451.4_Missense_Mutation_p.V279L|CNKSR2_ENST00000379510.3_Missense_Mutation_p.V279L NM_001168647.1 NP_001162118.1 Q8WXI2 CNKR2_HUMAN connector enhancer of kinase suppressor of Ras 2 279 PDZ. regulation of signal transduction cytoplasm|membrane protein binding breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3) 61 GAAAAATTTGGTGAATGCACT 0.398000 8 83 0 0 1 0 0 DIDO1 11083 broad.mit.edu 37 20 61513002 61513002 + Nonsense_Mutation SNP C C A TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr20:61513002C>A ENST00000266070.4 - 16 4631 c.4306G>T c.(4306-4308)Gaa>Taa p.E1436* DIDO1_ENST00000395343.1_Nonsense_Mutation_p.E1436* NM_033081.2 NP_149072.2 Q9BTC0 DIDO1_HUMAN death inducer-obliterator 1 1436 apoptosis|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1) 99 Breast(26;5.68e-08) ACTTTCGCTTCTTCTAAGATG 0.637000 11 110 3.86212e-05 4.73203e-05 1 1 0 NHLRC3 387921 broad.mit.edu 37 13 39613332 39613332 + Silent SNP G G T TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr13:39613332G>T ENST00000379600.3 + 2 466 c.144G>T c.(142-144)ctG>ctT p.L48L NHLRC3_ENST00000470258.1_5'UTR|NHLRC3_ENST00000379599.2_Silent_p.L48L NM_001012754.3 NP_001012772.1 Q5JS37 NHLC3_HUMAN NHL repeat containing 3 48 extracellular region breast(1)|kidney(1)|large_intestine(3)|lung(4)|skin(2) 11 Lung NSC(96;6.01e-07)|Breast(139;0.00394)|Prostate(109;0.00676)|Lung SC(185;0.0548)|Hepatocellular(188;0.114) all cancers(112;2.37e-08)|Epithelial(112;3.14e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00101)|BRCA - Breast invasive adenocarcinoma(63;0.00335)|GBM - Glioblastoma multiforme(144;0.0128) TTTACCGGCTGGATGTGGGTT 0.388000 5 80 0.0215528 0.0229339 1 1 0 NCK1 4690 broad.mit.edu 37 3 136664750 136664750 + Silent SNP T T C TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr3:136664750T>C ENST00000469404.1 + 2 451 c.360T>C c.(358-360)aaT>aaC p.N120N NCK1_ENST00000288986.2_Silent_p.N184N|NCK1_ENST00000481752.1_Silent_p.N184N NM_001190796.1 NP_001177725.1 P16333 NCK1_HUMAN NCK adaptor protein 1 184 SH3 2. axon guidance|positive regulation of actin filament polymerization|positive regulation of T cell proliferation|regulation of translation|signal complex assembly|T cell activation|T cell receptor signaling pathway cytosol|endoplasmic reticulum|nucleus cytoskeletal adaptor activity|receptor binding|receptor signaling complex scaffold activity cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 13 CAGTCGTCAATAACCTAAATA 0.423000 18 106 0 0 1 0 0 SALL1 6299 broad.mit.edu 37 16 51175917 51175917 + Missense_Mutation SNP T T G TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr16:51175917T>G ENST00000251020.4 - 2 249 c.216A>C c.(214-216)ttA>ttC p.L72F SALL1_ENST00000541611.1_Intron|SALL1_ENST00000566102.1_Intron|SALL1_ENST00000440970.1_5'UTR NM_002968.2 NP_002959.2 Q9NSC2 SALL1_HUMAN spalt-like transcription factor 1 72 adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development chromocenter|cytoplasm|heterochromatin|nucleus beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3) 126 all_cancers(37;0.0322) COAD - Colon adenocarcinoma(2;0.24) CATTTACGATTAAAACTAATT 0.453000 4 65 0 0 1 0 0 KCNMB1 3779 broad.mit.edu 37 5 169805863 169805863 + Missense_Mutation SNP C C T TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr5:169805863C>T ENST00000274629.4 - 4 863 c.421G>A c.(421-423)Ggg>Agg p.G141R KCNIP1_ENST00000377360.4_Intron|KCNIP1_ENST00000518527.1_Intron NM_004137.3 NP_004128.1 Q16558 KCMB1_HUMAN potassium large conductance calcium-activated channel, subfamily M, beta member 1 141 platelet activation|synaptic transmission calcium-activated potassium channel activity|potassium channel regulator activity endometrium(1)|large_intestine(1)|lung(7)|ovary(2) 11 Renal(175;0.000159)|Lung NSC(126;0.0165)|all_lung(126;0.026) Medulloblastoma(196;0.0109)|all_neural(177;0.0146) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.175) GTTTCGTTCCCCCGAGGTGCG 0.622000 5 16 0 0 1 0 0 SPATA4 132851 broad.mit.edu 37 4 177116567 177116567 + Silent SNP G G T TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr4:177116567G>T ENST00000280191.2 - 1 255 c.147C>A c.(145-147)tcC>tcA p.S49S NM_144644.2 NP_653245.2 Q8NEY3 SPAT4_HUMAN spermatogenesis associated 4 49 apoptosis|spermatogenesis NS(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10) 22 Breast(14;0.0011)|Prostate(90;0.0129)|Melanoma(52;0.0133)|Renal(120;0.0376)|all_hematologic(60;0.124) all cancers(43;2.9e-20)|Epithelial(43;1.99e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.58e-09)|GBM - Glioblastoma multiforme(59;0.000162)|STAD - Stomach adenocarcinoma(60;0.000543)|LUSC - Lung squamous cell carcinoma(193;0.096) GAGACAAGCGGGAGCTCTTCG 0.582000 7 44 0.0477658 0.0503175 1 1 0 TRRAP 8295 broad.mit.edu 37 7 98535294 98535294 + Missense_Mutation SNP G G A TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr7:98535294G>A ENST00000359863.4 + 30 4464 c.4255G>A c.(4255-4257)Gaa>Aaa p.E1419K TRRAP_ENST00000446306.3_Missense_Mutation_p.E1418K|TRRAP_ENST00000355540.3_Missense_Mutation_p.E1419K NM_001244580.1 NP_001231509.1 Q9Y4A5 TRRAP_HUMAN transformation/transcription domain-associated protein 1419 histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2) 176 all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274) STAD - Stomach adenocarcinoma(171;0.215) TGCTACCATAGAAGTCGATCA 0.398000 8 77 0 0 1 0 0 ACTB 60 broad.mit.edu 37 7 5568036 5568036 + Missense_Mutation SNP C C G TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr7:5568036C>G ENST00000331789.5 - 4 869 c.678G>C c.(676-678)gaG>gaC p.E226D NM_001101.3 NP_001092.1 P60709 ACTB_HUMAN actin, beta 226 'de novo' posttranslational protein folding|adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement cytoskeleton|cytosol|MLL5-L complex|NuA4 histone acetyltransferase complex|ribonucleoprotein complex ATP binding|kinesin binding|nitric-oxide synthase binding|structural constituent of cytoskeleton NS(1)|central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(2) 8 Ovarian(82;0.0606) UCEC - Uterine corpus endometrioid carcinoma (126;0.175)|OV - Ovarian serous cystadenocarcinoma(56;4.24e-37) CCGTGGCCATCTCTTGCTCGA 0.617000 9 77 0 0 1 0 0 C10orf12 26148 broad.mit.edu 37 10 98744615 98744615 + Missense_Mutation SNP G G C TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr10:98744615G>C ENST00000286067.2 + 1 3575 c.3468G>C c.(3466-3468)aaG>aaC p.K1156N NM_015652.2 NP_056467.2 Q8N655 CJ012_HUMAN chromosome 10 open reading frame 12 1156 NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4) 45 Colorectal(252;0.172) Epithelial(162;6.35e-09)|all cancers(201;3.21e-07) CCGCTGGGAAGAGCTGCCCTC 0.498000 4 31 0 0 1 0 0 MARK2 2011 broad.mit.edu 37 11 63667482 63667482 + Missense_Mutation SNP G G A TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr11:63667482G>A ENST00000402010.2 + 8 1247 c.668G>A c.(667-669)gGc>gAc p.G223D MARK2_ENST00000509502.2_Missense_Mutation_p.G190D|MARK2_ENST00000502399.3_Missense_Mutation_p.G223D|MARK2_ENST00000413835.2_Missense_Mutation_p.G223D|MARK2_ENST00000408948.3_Missense_Mutation_p.G190D|MARK2_ENST00000315032.8_Missense_Mutation_p.G223D|MARK2_ENST00000361128.5_Missense_Mutation_p.G223D|MARK2_ENST00000377809.4_Missense_Mutation_p.G223D|MARK2_ENST00000508192.1_Missense_Mutation_p.G223D|MARK2_ENST00000425897.2_Missense_Mutation_p.G190D|MARK2_ENST00000350490.7_Missense_Mutation_p.G223D|MARK2_ENST00000513765.2_Missense_Mutation_p.G190D|MARK2_ENST00000377810.3_Missense_Mutation_p.G190D NM_001039469.2 NP_001034558.2 Q7KZI7 MARK2_HUMAN MAP/microtubule affinity-regulating kinase 2 223 Protein kinase. cell differentiation|establishment or maintenance of epithelial cell apical/basal polarity|intracellular protein kinase cascade|multicellular organismal development|response to oxidative stress plasma membrane ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 33 CTCTTCCAGGGCAAAAAATAT 0.502000 4 157 0 0 1 0 0 ADAM22 53616 broad.mit.edu 37 7 87810908 87810908 + Missense_Mutation SNP A A T TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr7:87810908A>T ENST00000398204.4 + 27 2712 c.2389A>T c.(2389-2391)Aac>Tac p.N797Y ADAM22_ENST00000398201.4_Missense_Mutation_p.N833Y|ADAM22_ENST00000265727.7_Missense_Mutation_p.N833Y|ADAM22_ENST00000398209.3_Missense_Mutation_p.N797Y|ADAM22_ENST00000315984.7_Missense_Mutation_p.N797Y NM_016351.4|NM_021723.3 NP_057435.2|NP_068369.1 Q9P0K1 ADA22_HUMAN ADAM metallopeptidase domain 22 833 cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis integral to membrane integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3) 53 Esophageal squamous(14;0.00202) STAD - Stomach adenocarcinoma(171;0.215) ACCTCGAAGTAACTCTTGGCA 0.408000 6 31 0 0 1 0 0 OR5B3 441608 broad.mit.edu 37 11 58170132 58170132 + Missense_Mutation SNP C C T TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr11:58170132C>T ENST00000309403.2 - 1 750 c.751G>A c.(751-753)Ggg>Agg p.G251R NM_001005469.1 NP_001005469.1 Q8NH48 OR5B3_HUMAN olfactory receptor, family 5, subfamily B, member 3 251 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(1) 34 Esophageal squamous(5;0.0027) Breast(21;0.0778) ATAATAGTCCCATAGAAGATG 0.438000 12 34 0 0 1 0 0 ZFX 7543 broad.mit.edu 37 X 24229189 24229189 + Missense_Mutation SNP T T C TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chrX:24229189T>C ENST00000379177.1 + 11 2541 c.2114T>C c.(2113-2115)cTa>cCa p.L705P ZFX_ENST00000338565.3_Missense_Mutation_p.L655P|ZFX_ENST00000379188.3_Missense_Mutation_p.L705P|ZFX_ENST00000539115.1_Missense_Mutation_p.L476P|ZFX_ENST00000540034.1_Missense_Mutation_p.L744P|ZFX_ENST00000304543.5_Missense_Mutation_p.L705P NM_001178085.1|NM_003410.3 NP_001171556.1|NP_003401.2 P17010 ZFX_HUMAN zinc finger protein, X-linked 705 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|transcription coactivator activity|zinc ion binding cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|prostate(1) 24 CCATTTGTTCTAAGTCGCCAT 0.423000 18 99 0 0 1 0 0 ZNF746 155061 broad.mit.edu 37 7 149174751 149174751 + Missense_Mutation SNP C C T TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr7:149174751C>T ENST00000340622.3 - 5 896 c.616G>A c.(616-618)Gcg>Acg p.A206T ZNF746_ENST00000458143.2_Missense_Mutation_p.A206T Q6NUN9 ZN746_HUMAN zinc finger protein 746 206 negative regulation of transcription, DNA-dependent|neuron death|regulation of cell death|transcription, DNA-dependent cytoplasm|nucleus transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 34 Melanoma(164;0.165) OV - Ovarian serous cystadenocarcinoma(82;0.00358) GCTGCCCACGCCTCCACGCCC 0.667000 4 13 0 0 1 0 0 ARRB2 409 broad.mit.edu 37 17 4621972 4621972 + Missense_Mutation SNP G G A TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr17:4621972G>A ENST00000269260.2 + 10 1005 c.772G>A c.(772-774)Gaa>Aaa p.E258K ARRB2_ENST00000572457.1_Missense_Mutation_p.E66K|ARRB2_ENST00000412477.3_Missense_Mutation_p.E279K|ARRB2_ENST00000574954.1_Missense_Mutation_p.E66K|ARRB2_ENST00000381488.6_Missense_Mutation_p.E243K|ARRB2_ENST00000571206.1_Missense_Mutation_p.E66K|ARRB2_ENST00000346341.2_Missense_Mutation_p.E243K|ARRB2_ENST00000575877.1_Missense_Mutation_p.E258K NM_001257328.1|NM_001257330.1|NM_004313.3 NP_001244257.1|NP_001244259.1|NP_004304.1 P32121 ARRB2_HUMAN arrestin, beta 2 258 Interaction with TRAF6. cell chemotaxis|desensitization of G-protein coupled receptor protein signaling pathway by arrestin|G-protein coupled receptor internalization|negative regulation of natural killer cell mediated cytotoxicity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|platelet activation|positive regulation of ERK1 and ERK2 cascade|proteasomal ubiquitin-dependent protein catabolic process|protein transport|protein ubiquitination|transcription from RNA polymerase II promoter|transforming growth factor beta receptor signaling pathway coated pit|cytoplasmic membrane-bounded vesicle|cytosol|nucleus|plasma membrane angiotensin receptor binding|ubiquitin protein ligase binding large_intestine(1)|liver(2)|lung(3)|prostate(1) 7 GGCTCAACTCGAACAAGAGTG 0.552000 5 45 0 0 1 0 0 MKI67 4288 broad.mit.edu 37 10 129909975 129909975 + Nonsense_Mutation SNP G G A TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr10:129909975G>A ENST00000368654.3 - 11 2569 c.2194C>T c.(2194-2196)Cga>Tga p.R732* MKI67_ENST00000368653.3_Nonsense_Mutation_p.R372*|MKI67_ENST00000484853.1_5'UTR NM_002417.4 NP_002408.3 P46013 KI67_HUMAN marker of proliferation Ki-67 732 cell proliferation nucleolus ATP binding|protein C-terminus binding NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4) 159 all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203) CTGTAGGGTCGAGCAGGCACA 0.388000 10 84 0 0 1 0 0 ATP2C2 9914 broad.mit.edu 37 16 84476142 84476142 + Silent SNP C C A TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr16:84476142C>A ENST00000416219.2 + 15 1427 c.1338C>A c.(1336-1338)gtC>gtA p.V446V ATP2C2_ENST00000420010.2_3'UTR|ATP2C2_ENST00000262429.4_Silent_p.V446V O75185 AT2C2_HUMAN ATPase, Ca++ transporting, type 2C, member 2 446 ATP biosynthetic process Golgi membrane|integral to membrane ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1) 33 ACAATGCGGTCATCAGAAAGA 0.557000 10 169 1.08611e-07 1.44585e-07 1 1 0 OR6C68 403284 broad.mit.edu 37 12 55886809 55886809 + Nonsense_Mutation SNP C C A TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr12:55886809C>A ENST00000379662.1 + 1 663 c.663C>A c.(661-663)taC>taA p.Y221* RP11-110A12.2_ENST00000556750.1_RNA|OR6C68_ENST00000548615.1_Nonsense_Mutation_p.Y216*|RP11-110A12.2_ENST00000554049.1_RNA|RP11-110A12.2_ENST00000555138.1_RNA A6NDL8 O6C68_HUMAN olfactory receptor, family 6, subfamily C, member 68 216 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 15 TTCTGTCCTACACATATATCA 0.343000 11 28 1.58986e-06 2.05575e-06 1 1 0 AKNAD1 254268 broad.mit.edu 37 1 109363181 109363181 + Missense_Mutation SNP C C A TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr1:109363181C>A ENST00000370001.3 - 14 2503 c.2235G>T c.(2233-2235)gaG>gaT p.E745D AKNAD1_ENST00000477908.1_5'UTR NM_152763.4 NP_689976.2 Q5T1N1 AKND1_HUMAN AKNA domain containing 1 745 breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|prostate(6)|skin(3)|stomach(2) 32 CTGGTGTGGGCTCATGTTCAC 0.343000 12 81 0.0931896 0.0980044 1 1 0 ZFX 7543 broad.mit.edu 37 X 24229192 24229192 + Missense_Mutation SNP G G A TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chrX:24229192G>A ENST00000379177.1 + 11 2544 c.2117G>A c.(2116-2118)aGt>aAt p.S706N ZFX_ENST00000338565.3_Missense_Mutation_p.S656N|ZFX_ENST00000379188.3_Missense_Mutation_p.S706N|ZFX_ENST00000539115.1_Missense_Mutation_p.S477N|ZFX_ENST00000540034.1_Missense_Mutation_p.S745N|ZFX_ENST00000304543.5_Missense_Mutation_p.S706N NM_001178085.1|NM_003410.3 NP_001171556.1|NP_003401.2 P17010 ZFX_HUMAN zinc finger protein, X-linked 706 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|transcription coactivator activity|zinc ion binding cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|prostate(1) 24 TTTGTTCTAAGTCGCCATATT 0.418000 21 99 0 0 1 0 0 LEO1 123169 broad.mit.edu 37 15 52258023 52258023 + Missense_Mutation SNP G G C TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr15:52258023G>C ENST00000299601.5 - 2 797 c.737C>G c.(736-738)tCt>tGt p.S246C LEO1_ENST00000315141.5_Missense_Mutation_p.S246C NM_138792.2 NP_620147.1 Q8WVC0 LEO1_HUMAN Leo1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae) 246 Asp-rich. histone H2B ubiquitination|histone monoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent Cdc73/Paf1 complex protein binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|skin(1) 14 all cancers(107;0.00264) TTCATCATCAGAATTTTGCAT 0.403000 13 140 0 0 1 0 0 GTF2H3 2967 broad.mit.edu 37 12 124130101 124130101 + Missense_Mutation SNP C C G TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr12:124130101C>G ENST00000543341.2 + 3 224 c.193C>G c.(193-195)Caa>Gaa p.Q65E GTF2H3_ENST00000228955.7_Missense_Mutation_p.Q24E NM_001271867.1|NM_001516.3 NP_001258796.1|NP_001507.2 Q13889 TF2H3_HUMAN general transcription factor IIH, polypeptide 3, 34kDa 65 mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of viral transcription|protein phosphorylation|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction core TFIIH complex|holo TFIIH complex damaged DNA binding|metal ion binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|translation factor activity, nucleic acid binding breast(2)|endometrium(1)|large_intestine(4)|lung(2)|urinary_tract(1) 10 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;7.1e-05)|Epithelial(86;0.000388)|all cancers(50;0.00362) AAGTCACATTCAAGAAAGGTA 0.398000 Nucleotide excision repair (NER) 5 29 0 0 1 0 0 C5AR2 27202 broad.mit.edu 37 19 47844579 47844579 + Silent SNP C C T TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr19:47844579C>T ENST00000595464.1 + 2 741 c.523C>T c.(523-525)Ctg>Ttg p.L175L C5AR2_ENST00000600626.1_Silent_p.L175L|C5AR2_ENST00000257267.2_Silent_p.L175L NM_001271749.1 NP_001258678.1 complement component 5a receptor 2 CTACCGCCGGCTGCACCAGGA 0.667000 6 29 0 0 1 0 0 EPM2AIP1 9852 broad.mit.edu 37 3 37032825 37032825 + Missense_Mutation SNP C C A TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr3:37032825C>A ENST00000322716.5 - 1 1970 c.1744G>T c.(1744-1746)Gcc>Tcc p.A582S NM_014805.3 NP_055620.1 Q7L775 EPMIP_HUMAN EPM2A (laforin) interacting protein 1 582 endoplasmic reticulum breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(12)|ovary(2) 27 CGAAACAGGGCTTGGAGATGC 0.413000 9 93 0.000274275 0.000320496 1 1 0 NIPBL 25836 broad.mit.edu 37 5 37000935 37000935 + Missense_Mutation SNP G G T TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr5:37000935G>T ENST00000282516.8 + 13 4018 c.3519G>T c.(3517-3519)aaG>aaT p.K1173N NIPBL_ENST00000448238.2_Missense_Mutation_p.K1173N NM_015384.4|NM_133433.3 NP_056199.2|NP_597677.2 Q6KC79 NIPBL_HUMAN Nipped-B homolog (Drosophila) 1173 brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis SMC loading complex chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4) 128 all_lung(31;0.000447)|Hepatocellular(1;0.108) Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202) GGAAAATGAAGAAAAAAGAAA 0.294000 8 63 0.00829132 0.00913058 1 1 0 RNF114 55905 broad.mit.edu 37 20 48565831 48565831 + Missense_Mutation SNP G G A rs41303809 byFrequency TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr20:48565831G>A ENST00000244061.2 + 5 562 c.560G>A c.(559-561)cGc>cAc p.R187H NM_018683.3 NP_061153.1 Q9Y508 RN114_HUMAN ring finger protein 114 187 cell differentiation|multicellular organismal development|spermatogenesis intracellular zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(1)|lung(1)|ovary(1) 5 CCCAACTACCGCAGCGCCAAC 0.562000 14 69 0 0 1 0 0 ZNF208 7757 broad.mit.edu 37 19 22154795 22154795 + Nonsense_Mutation SNP G G C TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr19:22154795G>C ENST00000397126.4 - 4 3189 c.3041C>G c.(3040-3042)tCa>tGa p.S1014* ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron NM_007153.3 NP_009084.2 zinc finger protein 208 breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 113 all_lung(12;0.0961)|Lung NSC(12;0.103) CATAAGGTTTGATGACCAGTT 0.398000 18 96 0 0 1 0 0 PDIA6 10130 broad.mit.edu 37 2 10929079 10929079 + Missense_Mutation SNP G G T TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr2:10929079G>T ENST00000404371.2 - 11 1362 c.1025C>A c.(1024-1026)aCg>aAg p.T342K PDIA6_ENST00000381611.4_Missense_Mutation_p.T295K|PDIA6_ENST00000272227.3_Missense_Mutation_p.T290K|PDIA6_ENST00000404824.2_Missense_Mutation_p.T338K|PDIA6_ENST00000540494.1_Missense_Mutation_p.T287K NM_001282704.1 NP_001269633.1 Q15084 PDIA6_HUMAN protein disulfide isomerase family A, member 6 290 cell redox homeostasis|glycerol ether metabolic process|protein folding endoplasmic reticulum lumen|ER-Golgi intermediate compartment|melanosome|plasma membrane electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|prostate(2) 18 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191) Epithelial(75;0.149)|OV - Ovarian serous cystadenocarcinoma(76;0.15) CTCCTCACACGTCCTCTTGGC 0.483000 13 46 4.3838e-07 5.76287e-07 1 1 0 PAPPA 5069 broad.mit.edu 37 9 119094669 119094669 + Missense_Mutation SNP G G T TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr9:119094669G>T ENST00000328252.3 + 12 3688 c.3319G>T c.(3319-3321)Ggg>Tgg p.G1107W PAPPA_ENST00000534838.1_Missense_Mutation_p.G145W NM_002581.3 NP_002572.2 Q13219 PAPP1_HUMAN pregnancy-associated plasma protein A, pappalysin 1 1107 cell differentiation|female pregnancy cytoplasm|extracellular region|membrane metalloendopeptidase activity|zinc ion binding NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 98 GGTGACGGATGGGACATATTA 0.498000 3 58 0.115264 0.120019 1 1 0 SLC26A10 65012 broad.mit.edu 37 12 58014157 58014157 + Missense_Mutation SNP C C A TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr12:58014157C>A ENST00000379218.2 + 1 465 c.154C>A c.(154-156)Ccg>Acg p.P52T SLC26A10_ENST00000320442.4_Missense_Mutation_p.P52T Q8NG04 S2610_HUMAN solute carrier family 26, member 10 52 integral to membrane antiporter activity NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7) 19 Melanoma(17;0.122) CTCCGTGCCCCCGGTGTTTGG 0.557000 35 393 1.47244e-24 2.08789e-24 1 1 0 AMHR2 269 broad.mit.edu 37 12 53825187 53825187 + Missense_Mutation SNP G G A TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr12:53825187G>A ENST00000257863.4 + 11 1732 c.1652G>A c.(1651-1653)tGc>tAc p.C551Y AMHR2_ENST00000550311.1_3'UTR|AMHR2_ENST00000379791.3_Missense_Mutation_p.C456Y NM_001164690.1|NM_020547.2 NP_001158162.1|NP_065434.1 Q16671 AMHR2_HUMAN anti-Mullerian hormone receptor, type II 551 Mullerian duct regression ATP binding|hormone binding|metal ion binding breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|skin(2) 34 Adenosine triphosphate(DB00171) CGGAGTGCCTGCCACTTCAGC 0.542000 9 29 0 0 1 0 0 FAM46C 54855 broad.mit.edu 37 1 118166382 118166382 + Missense_Mutation SNP G G A TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr1:118166382G>A ENST00000369448.3 + 2 1139 c.892G>A c.(892-894)Gaa>Aaa p.E298K NM_017709.3 NP_060179.2 Q5VWP2 FA46C_HUMAN family with sequence similarity 46, member C 298 endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1) 15 Lung SC(450;0.225) all_cancers(81;0.000101)|all_lung(203;3.4e-06)|all_epithelial(167;4.98e-06)|Lung NSC(69;2.33e-05) Lung(183;0.0576)|LUSC - Lung squamous cell carcinoma(189;0.192)|Colorectal(144;0.247) CCACTTCGCTGAAGAAGAGAG 0.512000 """Mis, F, O""" MM Multiple Myeloma(3;1.13e-06) 3 15 0 0 1 0 0 DHRS7C 201140 broad.mit.edu 37 17 9683242 9683242 + Silent SNP A A G TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr17:9683242A>G ENST00000330255.5 - 3 393 c.381T>C c.(379-381)aaT>aaC p.N127N DHRS7C_ENST00000571134.1_Silent_p.N126N NM_001105571.2|NM_001220493.1 NP_001099041.1|NP_001207422.1 A6NNS2 DRS7C_HUMAN dehydrogenase/reductase (SDR family) member 7C extracellular region binding|oxidoreductase activity NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9) 15 TCACACTGGCATTGTTGATGA 0.493000 7 15 0 0 1 0 0 SNAP25 6616 broad.mit.edu 37 20 10273881 10273881 + Missense_Mutation SNP C C T rs1051276 TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr20:10273881C>T ENST00000254976.2 + 5 447 c.236C>T c.(235-237)aCg>aTg p.T79M SNAP25_ENST00000304886.2_Intron|SNAP25-AS1_ENST00000453544.1_RNA|SNAP25-AS1_ENST00000421143.2_RNA NM_130811.2 NP_570824.1 P60880 SNP25_HUMAN synaptosomal-associated protein, 25kDa 79 t-SNARE coiled-coil homology 1. energy reserve metabolic process|glutamate secretion|neurotransmitter uptake|synaptic vesicle docking involved in exocytosis cell junction|growth cone|perinuclear region of cytoplasm|synapse|synaptosome p.T79M(1) endometrium(1)|large_intestine(2)|lung(8)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 18 Botulinum Toxin Type A(DB00083) AAGAATTTGACGGACCTAGGA 0.458000 4 80 0 0 1 0 0 MRPL18 29074 broad.mit.edu 37 6 160218457 160218457 + Missense_Mutation SNP G G C TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr6:160218457G>C ENST00000367034.4 + 3 500 c.378G>C c.(376-378)gaG>gaC p.E126D MRPL18_ENST00000480842.1_3'UTR NM_014161.3 NP_054880.2 Q9H0U6 RM18_HUMAN mitochondrial ribosomal protein L18 126 rRNA transport|translation mitochondrial ribosome 5S rRNA binding|structural constituent of ribosome cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4) 11 Breast(66;0.000776)|Ovarian(120;0.0303) OV - Ovarian serous cystadenocarcinoma(65;1.44e-18)|BRCA - Breast invasive adenocarcinoma(81;5.79e-06) TGGCTTGTGAGAGTATAGGAC 0.502000 3 44 0 0 1 0 0 RSF1 51773 broad.mit.edu 37 11 77412518 77412518 + Missense_Mutation SNP C C G TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr11:77412518C>G ENST00000308488.6 - 6 2058 c.1756G>C c.(1756-1758)Gaa>Caa p.E586Q RSF1_ENST00000480887.1_Missense_Mutation_p.E334Q|RSF1_ENST00000360355.2_Missense_Mutation_p.E555Q Q96T23 RSF1_HUMAN remodeling and spacing factor 1 586 CenH3-containing nucleosome assembly at centromere|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription initiation, DNA-dependent RSF complex histone binding|protein binding|zinc ion binding breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 43 all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152) Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31) TCTAACTTTTCAAGACATTCT 0.398000 16 164 0 0 1 0 0 NUTM2A 728118 broad.mit.edu 37 10 88994220 88994220 + Missense_Mutation SNP C C T TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr10:88994220C>T ENST00000381707.2 + 7 2775 c.2392C>T c.(2392-2394)Cat>Tat p.H798Y NUTM2A-AS1_ENST00000451940.2_RNA|NUTM2A_ENST00000381689.4_Intron NM_001099338.1 NP_001092808.1 NUT family member 2A CCAGGGAACTCATCAGTTCCC 0.597000 4 25 0 0 1 0 0 ITGB4 3691 broad.mit.edu 37 17 73727425 73727425 + Silent SNP C C G TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr17:73727425C>G ENST00000200181.3 + 10 1378 c.1191C>G c.(1189-1191)tcC>tcG p.S397S ITGB4_ENST00000450894.3_Silent_p.S397S|ITGB4_ENST00000579662.1_Silent_p.S397S|ITGB4_ENST00000449880.2_Silent_p.S397S|ITGB4_ENST00000584558.1_3'UTR|ITGB4_ENST00000339591.3_Silent_p.S397S NM_000213.3 NP_000204.3 P16144 ITB4_HUMAN integrin, beta 4 397 cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding cell leading edge|cell surface|hemidesmosome|integrin complex protein binding|receptor activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1) 43 all_cancers(13;1.5e-07) all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154) GGACTGGGTCCTTTCACATCC 0.637000 10 44 0 0 1 0 0 PARK2 5071 broad.mit.edu 37 6 162683621 162683621 + Silent SNP A A G TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr6:162683621A>G ENST00000366898.1 - 3 450 c.348T>C c.(346-348)tcT>tcC p.S116S PARK2_ENST00000366892.1_Silent_p.S116S|PARK2_ENST00000366894.1_Intron|PARK2_ENST00000366896.1_Intron|PARK2_ENST00000338468.3_5'UTR|PARK2_ENST00000366897.1_Silent_p.S116S NM_004562.2 NP_004553.2 O60260 PRKN2_HUMAN parkin RBR E3 ubiquitin protein ligase 116 aggresome assembly|central nervous system development|mitochondrion degradation|negative regulation of actin filament bundle assembly|negative regulation of cell death|negative regulation of protein phosphorylation|negative regulation of release of cytochrome c from mitochondria|neuron death|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autoubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein monoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of autophagy|regulation of reactive oxygen species metabolic process aggresome|cytosol|endoplasmic reticulum|Golgi apparatus|mitochondrion|nucleus|perinuclear region of cytoplasm chaperone binding|PDZ domain binding|protein kinase binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 39 all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102) UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046) CCAGCCCCACAGAGTCTCCTG 0.577000 4 51 0 0 1 0 0 MAGEB6 158809 broad.mit.edu 37 X 26212478 26212478 + Missense_Mutation SNP G G T TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chrX:26212478G>T ENST00000379034.1 + 2 664 c.515G>T c.(514-516)gGt>gTt p.G172V NM_173523.2 NP_775794.2 Q8N7X4 MAGB6_HUMAN melanoma antigen family B, 6 172 G -> R (in Ref. 1; BAC05102). breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2) 33 GCTGCCGAGGGTGAAGATGAG 0.507000 8 47 0.0381472 0.0402523 1 1 0 FAT2 2196 broad.mit.edu 37 5 150901461 150901461 + Missense_Mutation SNP T T A TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr5:150901461T>A ENST00000261800.5 - 18 10705 c.10693A>T c.(10693-10695)Acc>Tcc p.T3565S NM_001447.2 NP_001438.1 Q9NYQ8 FAT2_HUMAN FAT atypical cadherin 2 3565 Cadherin 32. epithelial cell migration|homophilic cell adhesion cell-cell adherens junction|integral to membrane|nucleus calcium ion binding NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1) 196 Medulloblastoma(196;0.0912)|all_hematologic(541;0.104) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) AGGCTATAGGTCAGCGTGTCC 0.597000 6 14 0 0 1 0 0 TRPM6 140803 broad.mit.edu 37 9 77455050 77455050 + Missense_Mutation SNP C C A TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr9:77455050C>A ENST00000451710.3 - 5 671 c.434G>T c.(433-435)gGc>gTc p.G145V TRPM6_ENST00000376864.4_Missense_Mutation_p.G145V|TRPM6_ENST00000360774.1_Missense_Mutation_p.G145V|TRPM6_ENST00000359047.2_Missense_Mutation_p.G145V|TRPM6_ENST00000449912.2_Missense_Mutation_p.G140V|TRPM6_ENST00000376871.3_Missense_Mutation_p.G145V|TRPM6_ENST00000361255.3_Missense_Mutation_p.G140V|TRPM6_ENST00000376872.3_Missense_Mutation_p.G145V Q9BX84 TRPM6_HUMAN transient receptor potential cation channel, subfamily M, member 6 145 response to toxin integral to membrane ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 126 GTTCTGGATGCCCCCATGGAC 0.398000 4 54 1 1 1 1 0 APAF1 317 broad.mit.edu 37 12 99056532 99056532 + Missense_Mutation SNP G G T TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr12:99056532G>T ENST00000357310.1 + 7 1480 c.903G>T c.(901-903)atG>atT p.M301I APAF1_ENST00000552268.1_Missense_Mutation_p.M301I|APAF1_ENST00000359972.2_Missense_Mutation_p.M290I|APAF1_ENST00000551964.1_Missense_Mutation_p.M301I|APAF1_ENST00000550527.1_Missense_Mutation_p.M290I|APAF1_ENST00000339433.3_Missense_Mutation_p.M301I|APAF1_ENST00000547045.1_Missense_Mutation_p.M301I|APAF1_ENST00000549007.1_Missense_Mutation_p.M301I|APAF1_ENST00000333991.1_Missense_Mutation_p.M301I NM_181868.1 NP_863658.1 O14727 APAF_HUMAN apoptotic peptidase activating factor 1 301 NB-ARC. activation of caspase activity by cytochrome c|defense response|induction of apoptosis by intracellular signals|nervous system development cytosol|Golgi apparatus|nucleus ATP binding|caspase activator activity|protein binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(1) 42 Adenosine triphosphate(DB00171) TTGTTAATATGAAGAAGGCAG 0.318000 7 32 0.00198382 0.00223934 1 1 0 CNTN1 1272 broad.mit.edu 37 12 41337455 41337455 + Missense_Mutation SNP G G C TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr12:41337455G>C ENST00000551295.2 + 13 1553 c.1436G>C c.(1435-1437)gGa>gCa p.G479A CNTN1_ENST00000348761.2_Missense_Mutation_p.G468A|CNTN1_ENST00000547702.1_Missense_Mutation_p.G479A|CNTN1_ENST00000347616.1_Missense_Mutation_p.G479A|CNTN1_ENST00000547849.1_Missense_Mutation_p.G479A|CNTN1_ENST00000360099.3_Missense_Mutation_p.G479A NM_001843.3 NP_001834.2 Q12860 CNTN1_HUMAN contactin 1 479 Ig-like C2-type 5. axon guidance|cell adhesion|Notch signaling pathway anchored to membrane|membrane fraction|plasma membrane central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 90 all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716) Lung NSC(34;0.0211)|all_lung(34;0.0294) AGGAATGATGGAGGTATCTAT 0.333000 8 74 0 0 1 0 0 EIF4G1 1981 broad.mit.edu 37 3 184039813 184039813 + Missense_Mutation SNP G G C TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr3:184039813G>C ENST00000342981.4 + 9 1855 c.1441G>C c.(1441-1443)Gag>Cag p.E481Q EIF4G1_ENST00000319274.6_Missense_Mutation_p.E481Q|EIF4G1_ENST00000435046.2_Missense_Mutation_p.E285Q|EIF4G1_ENST00000346169.2_Missense_Mutation_p.E481Q|EIF4G1_ENST00000382330.3_Missense_Mutation_p.E488Q|EIF4G1_ENST00000434061.2_Missense_Mutation_p.E285Q|EIF4G1_ENST00000424196.1_Missense_Mutation_p.E488Q|EIF4G1_ENST00000414031.1_Missense_Mutation_p.E441Q|EIF4G1_ENST00000441154.1_Missense_Mutation_p.E317Q|EIF4G1_ENST00000427845.1_Missense_Mutation_p.E394Q|EIF4G1_ENST00000350481.5_Missense_Mutation_p.E317Q|EIF4G1_ENST00000392537.2_Missense_Mutation_p.E394Q|EIF4G1_ENST00000352767.3_Missense_Mutation_p.E488Q|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000411531.1_Missense_Mutation_p.E441Q NM_182917.4 NP_886553 Q04637 IF4G1_HUMAN eukaryotic translation initiation factor 4 gamma, 1 481 insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation cytosol|eukaryotic translation initiation factor 4F complex protein binding|translation initiation factor activity central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 75 all_cancers(143;1.06e-10)|Ovarian(172;0.0339) Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) GAAAGGAGGAGAGGAACTGCT 0.527000 5 32 0 0 1 0 0 GNAQ 2776 broad.mit.edu 37 9 80409447 80409447 + Missense_Mutation SNP C C T TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr9:80409447C>T ENST00000286548.4 - 5 889 c.667G>A c.(667-669)Gtc>Atc p.V223I GNAQ_ENST00000397476.3_Missense_Mutation_p.V21I NM_002072.3 NP_002063.2 P50148 GNAQ_HUMAN guanine nucleotide binding protein (G protein), q polypeptide 223 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|glutamate signaling pathway|negative regulation of protein kinase activity|platelet activation|protein ADP-ribosylation|protein stabilization|regulation of action potential|regulation of catenin import into nucleus cytoplasm|heterotrimeric G-protein complex G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activator activity|GTPase activity|signal transducer activity NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1) 302 ATAGAGGTGACATTTTCAAAG 0.383000 Mis uveal melanoma 7 67 0 0 1 0 0 EPHA1 2041 broad.mit.edu 37 7 143095498 143095498 + Silent SNP C C T TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr7:143095498C>T ENST00000275815.3 - 7 1466 c.1380G>A c.(1378-1380)ccG>ccA p.P460P NM_005232.4 NP_005223.4 P21709 EPHA1_HUMAN EPH receptor A1 460 Fibronectin type-III 2. integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3) 51 Melanoma(164;0.205) Myeloproliferative disorder(862;0.0255) CTAGTTGCCTCGGTTCTTTCT 0.552000 6 38 0 0 1 0 0 DPEP1 1800 broad.mit.edu 37 16 89696854 89696854 + Silent SNP C C G TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr16:89696854C>G ENST00000393092.3 + 2 327 c.36C>G c.(34-36)gcC>gcG p.A12A DPEP1_ENST00000261615.4_Silent_p.A12A|DPEP1_ENST00000421184.1_Silent_p.A12A NM_004413.3 NP_004404.1 P16444 DPEP1_HUMAN dipeptidase 1 (renal) 12 proteolysis anchored to membrane|apical plasma membrane|microvillus membrane dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity|protein binding large_intestine(2)|lung(10)|prostate(1)|urinary_tract(1) 14 all_lung(18;0.0054)|all_hematologic(23;0.094) BRCA - Breast invasive adenocarcinoma(80;0.0258) Cilastatin(DB01597) CCCTTGTGGCCGTCTGCACTG 0.642000 13 44 0 0 1 0 0 ZFP37 7539 broad.mit.edu 37 9 115805098 115805098 + Silent SNP G G T TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr9:115805098G>T ENST00000374227.3 - 4 1827 c.1800C>A c.(1798-1800)ccC>ccA p.P600P ZFP37_ENST00000555206.1_Silent_p.P601P|ZFP37_ENST00000553380.1_Silent_p.P615P NM_001282515.1|NM_001282518.1 NP_001269444.1|NP_001269447.1 Q9Y6Q3 ZFP37_HUMAN ZFP37 zinc finger protein 600 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 38 TACATTCATAGGGTTTTTCTC 0.353000 5 73 0.014758 0.0160005 1 1 0 TNFAIP8L1 126282 broad.mit.edu 37 19 4652064 4652064 + Missense_Mutation SNP G G C TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr19:4652064G>C ENST00000536716.1 + 2 329 c.183G>C c.(181-183)aaG>aaC p.K61N TNFAIP8L1_ENST00000327473.4_Missense_Mutation_p.K61N NM_001167942.1 NP_001161414.1 Q8WVP5 TP8L1_HUMAN tumor necrosis factor, alpha-induced protein 8-like 1 61 endometrium(1) 1 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18) AGATGCTCAAGAACCTGGTCA 0.677000 4 7 0 0 1 0 0 MRPL32 64983 broad.mit.edu 37 7 42974729 42974729 + Silent SNP A A G TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr7:42974729A>G ENST00000223324.2 + 2 493 c.306A>G c.(304-306)aaA>aaG p.K102K MRPL32_ENST00000496564.1_3'UTR NM_031903.2 NP_114109.1 Q9BYC8 RM32_HUMAN mitochondrial ribosomal protein L32 102 translation large ribosomal subunit|mitochondrial ribosome structural constituent of ribosome endometrium(1)|kidney(1)|large_intestine(2)|lung(6) 10 AGCTTATTAAAGTTAAGGTAA 0.398000 11 39 0 0 1 0 0 CACNA2D3 55799 broad.mit.edu 37 3 54604057 54604057 + Silent SNP C C T TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr3:54604057C>T ENST00000474759.1 + 8 862 c.814C>T c.(814-816)Ctg>Ttg p.L272L CACNA2D3_ENST00000490478.1_Silent_p.L178L|CACNA2D3_ENST00000415676.2_Silent_p.L272L|CACNA2D3_ENST00000288197.5_Silent_p.L272L NM_018398.2 NP_060868.2 Q8IZS8 CA2D3_HUMAN calcium channel, voltage-dependent, alpha 2/delta subunit 3 272 VWFA. integral to membrane calcium channel activity|metal ion binding|voltage-gated ion channel activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3) 59 KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327) AGGACTCCGTCTGACTATCGC 0.453000 4 106 0 0 1 0 0 KIF24 347240 broad.mit.edu 37 9 34257592 34257592 + Missense_Mutation SNP C C G TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr9:34257592C>G ENST00000379166.2 - 11 2132 c.2013G>C c.(2011-2013)gaG>gaC p.E671D KIF24_ENST00000379174.3_Missense_Mutation_p.E537D|KIF24_ENST00000345050.2_Missense_Mutation_p.E537D|KIF24_ENST00000402558.2_Missense_Mutation_p.E671D NM_194313.2 NP_919289.2 Q5T7B8 KIF24_HUMAN kinesin family member 24 671 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(13)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 32 LUSC - Lung squamous cell carcinoma(29;0.0107) TTCGATTTTTCTCAGAGCACA 0.522000 5 92 0 0 1 0 0 RB1CC1 9821 broad.mit.edu 37 8 53597999 53597999 + Missense_Mutation SNP C C T TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr8:53597999C>T ENST00000025008.5 - 3 554 c.31G>A c.(31-33)Gga>Aga p.G11R RB1CC1_ENST00000539297.1_Missense_Mutation_p.G11R|RB1CC1_ENST00000521611.1_Intron|RB1CC1_ENST00000435644.2_Missense_Mutation_p.G11R NM_014781.4 NP_055596.3 Q8TDY2 RBCC1_HUMAN RB1-inducible coiled-coil 1 11 autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nucleus|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex protein binding NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2) 60 all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023) AGAGTAGTTCCAGTGTTAACC 0.338000 6 117 0 0 1 0 0 TMEM79 84283 broad.mit.edu 37 1 156255629 156255629 + Silent SNP G G T TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr1:156255629G>T ENST00000405535.2 + 2 783 c.612G>T c.(610-612)gtG>gtT p.V204V TMEM79_ENST00000495881.1_3'UTR|TMEM79_ENST00000295694.5_Silent_p.V204V|TMEM79_ENST00000357501.2_Intron NM_032323.2 NP_115699.1 Q9BSE2 TMM79_HUMAN transmembrane protein 79 204 integral to membrane breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|urinary_tract(1) 21 Hepatocellular(266;0.158) TGGCCTCCGTGGGAGCCGCAC 0.632000 6 49 0.0215528 0.0229339 1 1 0 MACC1 346389 broad.mit.edu 37 7 20193845 20193845 + Silent SNP G G T TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr7:20193845G>T ENST00000400331.5 - 6 2625 c.2317C>A c.(2317-2319)Cga>Aga p.R773R MACC1_ENST00000332878.4_Silent_p.R773R|MACC1_ENST00000589011.1_Silent_p.R773R NM_182762.3 NP_877439.3 Q6ZN28 MACC1_HUMAN metastasis associated in colon cancer 1 773 positive regulation of cell division|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane growth factor activity endometrium(1)|kidney(1)|large_intestine(15)|lung(12)|ovary(2)|prostate(1)|skin(3)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(1) 39 GTGTTTCCTCGATGAGGAATT 0.408000 20 67 4.4004e-07 5.77267e-07 1 1 0 NYAP1 222950 broad.mit.edu 37 7 100087190 100087190 + Missense_Mutation SNP G G C TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr7:100087190G>C ENST00000423930.1 + 4 2005 c.1846G>C c.(1846-1848)Gag>Cag p.E616Q NYAP1_ENST00000454988.1_Missense_Mutation_p.E559Q|NYAP1_ENST00000300179.2_Missense_Mutation_p.E616Q Q6ZVC0 CG051_HUMAN neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1 616 Poly-Glu. AGGGACACCAGAGGAGGAAGA 0.612000 8 27 0 0 1 0 0 HMGB3 3149 broad.mit.edu 37 X 150156360 150156360 + Silent SNP G G A TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chrX:150156360G>A ENST00000325307.7 + 5 672 c.576G>A c.(574-576)gaG>gaA p.E192E HMGB3_ENST00000448905.2_Silent_p.E192E NM_005342.2 NP_005333.2 O15347 HMGB3_HUMAN high mobility group box 3 192 Asp/Glu-rich (acidic). DNA recombination|multicellular organismal development chromosome|nucleus DNA bending activity|double-stranded DNA binding p.E192E(1) endometrium(3)|large_intestine(2)|lung(2)|skin(1) 8 Acute lymphoblastic leukemia(192;6.56e-05) aggaagaagaggaggaggagg 0.443000 4 111 0 0 1 0 0 OPTN 10133 broad.mit.edu 37 10 13152414 13152414 + Missense_Mutation SNP G G A TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr10:13152414G>A ENST00000378748.3 + 5 669 c.307G>A c.(307-309)Gag>Aag p.E103K OPTN_ENST00000482140.1_Intron|OPTN_ENST00000378752.3_Missense_Mutation_p.E103K|OPTN_ENST00000378747.3_Missense_Mutation_p.E103K|OPTN_ENST00000378764.2_Missense_Mutation_p.E103K|OPTN_ENST00000263036.5_Missense_Mutation_p.E103K|OPTN_ENST00000378757.2_Missense_Mutation_p.E103K NM_001008211.1|NM_001008213.1 NP_001008212|NP_001008214 Q96CV9 OPTN_HUMAN optineurin 103 Interaction with Rab8. E -> D (in GLC1E). cell death|Golgi ribbon formation|Golgi to plasma membrane protein transport|protein targeting to Golgi|signal transduction perinuclear region of cytoplasm|trans-Golgi network protein C-terminus binding breast(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 22 CTTGAGTCATGAGAATGAGAA 0.418000 5 33 0 0 1 0 0 DCUN1D4 23142 broad.mit.edu 37 4 52777312 52777312 + Missense_Mutation SNP T T C TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr4:52777312T>C ENST00000334635.5 + 9 872 c.692T>C c.(691-693)cTt>cCt p.L231P DCUN1D4_ENST00000451288.2_Missense_Mutation_p.L275P|DCUN1D4_ENST00000381437.4_Missense_Mutation_p.L171P|DCUN1D4_ENST00000381441.3_Intron NM_001040402.1 NP_001035492.1 Q92564 DCNL4_HUMAN DCN1, defective in cullin neddylation 1, domain containing 4 231 DCUN1. endometrium(2)|large_intestine(2)|lung(2)|ovary(2)|skin(1) 9 GBM - Glioblastoma multiforme(4;1.93e-11)|LUSC - Lung squamous cell carcinoma(32;0.00654) ATCTGGCCCCTTTTTCCAGTT 0.383000 3 77 0 0 1 0 0 DAND5 199699 broad.mit.edu 37 19 13080545 13080545 + Missense_Mutation SNP C C A TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr19:13080545C>A ENST00000317060.2 + 1 250 c.71C>A c.(70-72)cCt>cAt p.P24H DAND5_ENST00000585548.1_Missense_Mutation_p.P54H NM_152654.2 NP_689867.1 Q8N907 DAND5_HUMAN DAN domain family member 5, BMP antagonist 24 extracellular region kidney(2)|lung(3)|ovary(1) 6 OV - Ovarian serous cystadenocarcinoma(19;1.87e-18) TCAGGGAGGCCTGAACCCCAG 0.647000 12 97 4.3838e-07 5.76287e-07 1 1 0 HSD17B6 8630 broad.mit.edu 37 12 57175932 57175932 + Missense_Mutation SNP C C G TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr12:57175932C>G ENST00000554643.1 + 4 837 c.488C>G c.(487-489)tCc>tGc p.S163C HSD17B6_ENST00000555805.1_Missense_Mutation_p.S163C|HSD17B6_ENST00000322165.1_Missense_Mutation_p.S163C|HSD17B6_ENST00000554150.1_Missense_Mutation_p.S163C|HSD17B6_ENST00000555159.1_Missense_Mutation_p.S163C O14756 H17B6_HUMAN hydroxysteroid (17-beta) dehydrogenase 6 163 androgen biosynthetic process|androgen catabolic process early endosome membrane|endoplasmic reticulum|microsome binding|electron carrier activity|estradiol 17-beta-dehydrogenase activity|retinol dehydrogenase activity|testosterone 17-beta-dehydrogenase (NAD+) activity endometrium(1)|large_intestine(2)|lung(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 10 Succinic acid(DB00139) GTCAATGTCTCCAGCATTCTG 0.438000 8 39 0 0 1 0 0 CUL3 8452 broad.mit.edu 37 2 225360597 225360597 + Missense_Mutation SNP C C G TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr2:225360597C>G ENST00000264414.4 - 13 2132 c.1794G>C c.(1792-1794)caG>caC p.Q598H CUL3_ENST00000409096.1_Missense_Mutation_p.Q574H|CUL3_ENST00000344951.4_Missense_Mutation_p.Q532H|CUL3_ENST00000409777.1_Missense_Mutation_p.Q574H NM_003590.4 NP_003581.1 Q13618 CUL3_HUMAN cullin 3 598 cell cycle arrest|cell migration|cyclin catabolic process|cytokinesis|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|mitotic anaphase|negative regulation of Rho protein signal transduction|positive regulation of cell proliferation|protein ubiquitination|stress fiber assembly Cul3-RING ubiquitin ligase complex|Golgi apparatus|nucleus|polar microtubule ubiquitin protein ligase binding endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3) 46 all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138) Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902) ATATGGTCATCTGGAAAGTGG 0.348000 10 32 0 0 1 0 0 CHRM2 1129 broad.mit.edu 37 7 136700941 136700941 + Nonsense_Mutation SNP C C A TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr7:136700941C>A ENST00000445907.2 + 3 1857 c.1329C>A c.(1327-1329)tgC>tgA p.C443* hsa-mir-490_ENST00000593789.1_RNA|hsa-mir-490_ENST00000425981.2_RNA|hsa-mir-490_ENST00000586239.1_RNA|hsa-mir-490_ENST00000592183.1_RNA|CHRM2_ENST00000402486.3_Nonsense_Mutation_p.C443*|CHRM2_ENST00000397608.3_Nonsense_Mutation_p.C443*|hsa-mir-490_ENST00000439694.1_RNA|CHRM2_ENST00000401861.1_Nonsense_Mutation_p.C443*|CHRM2_ENST00000453373.1_Nonsense_Mutation_p.C443*|hsa-mir-490_ENST00000597642.1_RNA|CHRM2_ENST00000320658.5_Nonsense_Mutation_p.C443*|hsa-mir-490_ENST00000598184.1_RNA NM_001006627.1|NM_001006629.1 NP_001006628.1|NP_001006630.1 P08172 ACM2_HUMAN cholinergic receptor, muscarinic 2 443 activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus cell junction|integral to plasma membrane|postsynaptic membrane muscarinic acetylcholine receptor activity|protein binding central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 68 Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508) ATGCACTTTGCAATGCCACCT 0.423000 8 76 0.000274275 0.000320496 1 1 0 ZNF823 55552 broad.mit.edu 37 19 11834016 11834016 + Silent SNP C C A TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr19:11834016C>A ENST00000341191.6 - 4 486 c.333G>T c.(331-333)tcG>tcT p.S111S ZNF823_ENST00000545749.1_5'UTR|ZNF823_ENST00000440527.1_3'UTR NM_001080493.2 NP_001073962.1 P16415 ZN823_HUMAN zinc finger protein 823 111 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4) 26 AATTAAGAGACGAATGACCCA 0.428000 HNSCC(68;0.2) 5 50 0.000602214 0.000695966 1 1 0 SNAPC4 6621 broad.mit.edu 37 9 139289816 139289816 + Missense_Mutation SNP G G C TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr9:139289816G>C ENST00000298532.2 - 4 773 c.405C>G c.(403-405)agC>agG p.S135R NM_003086.2 NP_003077.2 Q5SXM2 SNPC4_HUMAN small nuclear RNA activating complex, polypeptide 4, 190kDa 135 snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter snRNA-activating protein complex DNA binding|sequence-specific DNA binding transcription factor activity biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1) 33 Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06) TTGGGGGCAGGCTTTTGCCAT 0.577000 3 35 0 0 1 0 0 IFT81 28981 broad.mit.edu 37 12 110600783 110600783 + Missense_Mutation SNP G G C TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr12:110600783G>C ENST00000242591.5 + 11 1607 c.1101G>C c.(1099-1101)gaG>gaC p.E367D IFT81_ENST00000361948.4_Missense_Mutation_p.E367D|IFT81_ENST00000552912.1_Missense_Mutation_p.E367D|IFT81_ENST00000549009.1_3'UTR NM_014055.3 NP_054774.2 Q8WYA0 IFT81_HUMAN intraflagellar transport 81 homolog (Chlamydomonas) 367 cell differentiation|multicellular organismal development|spermatogenesis intraflagellar transport particle B|microtubule-based flagellum endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|stomach(1) 10 AGGCCAAGGAGAAGTTAGCCA 0.403000 6 56 0 0 1 0 0 PSG3 5671 broad.mit.edu 37 19 43233345 43233345 + Silent SNP G G A TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr19:43233345G>A ENST00000327495.5 - 5 1357 c.1173C>T c.(1171-1173)ctC>ctT p.L391L PSG3_ENST00000595140.1_Silent_p.L391L NM_021016.3 NP_066296.2 Q16557 PSG3_HUMAN pregnancy specific beta-1-glycoprotein 3 391 Ig-like C2-type 3. defense response|female pregnancy extracellular region central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 36 Prostate(69;0.00682) AGCAAGCATAGAGCCCGCTAT 0.458000 23 187 0 0 1 0 0 GPR98 84059 broad.mit.edu 37 5 89989985 89989985 + Missense_Mutation SNP G G A TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr5:89989985G>A ENST00000405460.2 + 33 7508 c.7412G>A c.(7411-7413)aGc>aAc p.S2471N NM_032119.3 NP_115495.3 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 2471 cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6) 269 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) TCATGGATCAGCCCAGCTGTC 0.483000 6 14 0 0 1 0 0 SIX3 6496 broad.mit.edu 37 2 45169361 45169361 + Missense_Mutation SNP G G T TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr2:45169361G>T ENST00000260653.3 + 1 460 c.118G>T c.(118-120)Ggc>Tgc p.G40C NM_005413.3 NP_005404.1 O95343 SIX3_HUMAN SIX homeobox 3 40 Poly-Gly. visual perception nucleus haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|skin(1) 11 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) cggtgcgggaggcggcggcgg 0.736000 8 48 0.0381472 0.0402523 1 1 0 DPPA4 55211 broad.mit.edu 37 3 109052769 109052769 + Silent SNP T T A rs150133131 TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr3:109052769T>A ENST00000335658.6 - 2 180 c.126A>T c.(124-126)ccA>ccT p.P42P DPPA4_ENST00000478791.1_5'UTR NM_018189.3 NP_060659.3 Q7L190 DPPA4_HUMAN developmental pluripotency associated 4 42 nucleus protein binding central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(17)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 25 CTGATGTTCCTGGCAAAGCAA 0.448000 3 55 0 0 1 0 0 DZANK1 55184 broad.mit.edu 37 20 18379185 18379185 + Silent SNP T T C TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr20:18379185T>C ENST00000357236.4 - 15 1835 c.1176A>G c.(1174-1176)gcA>gcG p.A392A DZANK1_ENST00000329494.5_Silent_p.A508A|DZANK1_ENST00000358866.6_Silent_p.A506A|DZANK1_ENST00000487128.1_5'UTR|DZANK1_ENST00000262547.5_Silent_p.A506A Q9NVP4 CT012_HUMAN double zinc ribbon and ankyrin repeat domains 1 333 intracellular zinc ion binding NS(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(10) 19 TCCTGGGTTCTGCAATCAAGG 0.507000 17 83 0 0 1 0 0 POLR2A 5430 broad.mit.edu 37 17 7404869 7404869 + Missense_Mutation SNP G G A TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr17:7404869G>A ENST00000322644.6 + 14 2569 c.2170G>A c.(2170-2172)Gag>Aag p.E724K NM_000937.4 NP_000928 P24928 RPB1_HUMAN polymerase (RNA) II (DNA directed) polypeptide A, 220kDa 724 mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction DNA-directed RNA polymerase II, core complex DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 50 Prostate(122;0.173) ACACAACAATGAGCTGGAGCC 0.547000 4 44 0 0 1 0 0 FAM209B 388799 broad.mit.edu 37 20 55111292 55111292 + Missense_Mutation SNP C C A TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr20:55111292C>A ENST00000371325.1 + 2 410 c.314C>A c.(313-315)gCt>gAt p.A105D NM_001013646.2 NP_001013668.2 Q5JX69 CT107_HUMAN family with sequence similarity 209, member B 105 integral to membrane AATCAAAATGCTTCTCTTTAC 0.403000 9 74 0.000442599 0.000515277 1 1 0 TEX13A 56157 broad.mit.edu 37 X 104464971 104464971 + Missense_Mutation SNP C C G TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chrX:104464971C>G ENST00000372578.3 - 2 222 c.111G>C c.(109-111)gaG>gaC p.E37D TEX13A_ENST00000372575.1_Missense_Mutation_p.E37D|TEX13A_ENST00000413579.1_Missense_Mutation_p.E37D|IL1RAPL2_ENST00000344799.4_Intron|IL1RAPL2_ENST00000372582.1_Intron NM_031274.3 NP_112564.1 Q9BXU3 TX13A_HUMAN testis expressed 13A 37 intracellular zinc ion binding large_intestine(5)|ovary(2)|upper_aerodigestive_tract(1) 8 AGGATATATTCTCAAGATAGA 0.567000 8 28 0 0 1 0 0 OR10A2 341276 broad.mit.edu 37 11 6891233 6891233 + Missense_Mutation SNP G G T TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr11:6891233G>T ENST00000307322.4 + 1 310 c.248G>T c.(247-249)gGc>gTc p.G83V NM_001004460.1 NP_001004460.1 Q9H208 O10A2_HUMAN olfactory receptor, family 10, subfamily A, member 2 83 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(12)|urinary_tract(1) 24 Medulloblastoma(188;0.0523)|all_neural(188;0.236) Epithelial(150;4.89e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13) TCCTTCCTTGGCTGTGCCACT 0.507000 40 62 7.05121e-23 9.97604e-23 1 1 0 GSTA4 2941 broad.mit.edu 37 6 52852203 52852203 + Missense_Mutation SNP C C T TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr6:52852203C>T ENST00000370959.1 - 3 208 c.91G>A c.(91-93)Gat>Aat p.D31N GSTA4_ENST00000370960.1_Intron|GSTA4_ENST00000486559.1_5'UTR|GSTA4_ENST00000541324.1_Intron O15217 GSTA4_HUMAN glutathione S-transferase alpha 4 31 GST N-terminal. glutathione metabolic process|xenobiotic metabolic process cytosol glutathione transferase activity|protein homodimerization activity endometrium(1)|lung(3)|skin(2)|urinary_tract(1) 7 Lung NSC(77;0.103) Glutathione(DB00143) AATTCTTCATCAAACTAAATT 0.308000 8 106 0 0 1 0 0 TM6SF1 53346 broad.mit.edu 37 15 83791578 83791578 + Missense_Mutation SNP C C G TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr15:83791578C>G ENST00000322019.9 + 6 825 c.551C>G c.(550-552)gCt>gGt p.A184G TM6SF1_ENST00000565774.1_Missense_Mutation_p.A184G|TM6SF1_ENST00000379386.4_Missense_Mutation_p.A187G|TM6SF1_ENST00000379390.6_Intron Q9BZW5 TM6S1_HUMAN transmembrane 6 superfamily member 1 184 integral to membrane endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 15 CCTGTCTGGGCTGGTTTCAGA 0.358000 10 50 0 0 1 0 0 SLITRK3 22865 broad.mit.edu 37 3 164908343 164908343 + Missense_Mutation SNP T T A TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr3:164908343T>A ENST00000475390.1 - 2 719 c.276A>T c.(274-276)ttA>ttT p.L92F SLITRK3_ENST00000241274.3_Missense_Mutation_p.L92F O94933 SLIK3_HUMAN SLIT and NTRK-like family, member 3 92 integral to membrane NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5) 119 TGTTGGTATATAATTTCCTCA 0.348000 HNSCC(40;0.11) 4 59 0 0 1 0 0 WDR53 348793 broad.mit.edu 37 3 196281454 196281454 + Silent SNP C C A TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr3:196281454C>A ENST00000332629.5 - 4 1272 c.705G>T c.(703-705)ctG>ctT p.L235L WDR53_ENST00000433160.1_Silent_p.L76L|WDR53_ENST00000429115.1_Silent_p.L74L NM_182627.1 NP_872433.1 Q7Z5U6 WDR53_HUMAN WD repeat domain 53 235 breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1) 13 all_cancers(143;8.88e-09)|Ovarian(172;0.0634)|Breast(254;0.135) Epithelial(36;1.6e-23)|all cancers(36;1.54e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.29e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00326) CCTTAAATCCCAGTTCCTGTT 0.473000 11 131 3.07112e-06 3.93078e-06 1 1 0 PHTF2 57157 broad.mit.edu 37 7 77558466 77558466 + Missense_Mutation SNP C C T TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr7:77558466C>T ENST00000416283.2 + 10 1184 c.1058C>T c.(1057-1059)tCa>tTa p.S353L PHTF2_ENST00000275575.7_Missense_Mutation_p.S349L|PHTF2_ENST00000307305.8_Missense_Mutation_p.S349L|PHTF2_ENST00000424760.1_Missense_Mutation_p.S349L|PHTF2_ENST00000422959.2_Missense_Mutation_p.S353L|PHTF2_ENST00000454592.1_3'UTR|PHTF2_ENST00000248550.7_Missense_Mutation_p.S387L NM_001127357.1|NM_020432.4 NP_001120829.1|NP_065165.3 Q8N3S3 PHTF2_HUMAN putative homeodomain transcription factor 2 387 regulation of transcription, DNA-dependent|transcription, DNA-dependent endoplasmic reticulum|nucleus DNA binding endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1) 19 TCTCGCTGTTCAAGTTCCAGA 0.408000 4 18 0 0 1 0 0 GLIS3 169792 broad.mit.edu 37 9 4125879 4125879 + Missense_Mutation SNP C C A TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr9:4125879C>A ENST00000381971.3 - 3 1044 c.451G>T c.(451-453)Gtc>Ttc p.V151F GLIS3_ENST00000324333.10_5'UTR NM_001042413.1 NP_001035878.1 Q8NEA6 GLIS3_HUMAN GLIS family zinc finger 3 0 Ser-rich. negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter DNA binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1) 26 Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148) Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148) CTGCTGGTGACCACTAGATTG 0.498000 29 36 3.73988e-18 5.27934e-18 1 1 0 CNTNAP4 85445 broad.mit.edu 37 16 76587765 76587765 + Missense_Mutation SNP C C A TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr16:76587765C>A ENST00000307431.8 + 24 4076 c.3691C>A c.(3691-3693)Ctt>Att p.L1231I CNTNAP4_ENST00000478060.1_Missense_Mutation_p.L1159I|CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000377504.4_Missense_Mutation_p.L1183I|CNTNAP4_ENST00000476707.1_Missense_Mutation_p.L1235I|RP11-58C22.1_ENST00000563764.1_Missense_Mutation_p.L40I NM_033401.3 NP_207837.2 Q9C0A0 CNTP4_HUMAN contactin associated protein-like 4 1232 cell adhesion|signal transduction integral to membrane receptor binding breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1) 64 CAGAGAGCCCCTTGCTAATGC 0.358000 4 16 1.23904e-05 1.53602e-05 1 1 0 COLEC11 78989 broad.mit.edu 37 2 3691547 3691547 + Missense_Mutation SNP C C A TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr2:3691547C>A ENST00000403096.3 + 6 1068 c.577C>A c.(577-579)Cac>Aac p.H193N COLEC11_ENST00000382062.2_Missense_Mutation_p.H195N|COLEC11_ENST00000349077.4_Missense_Mutation_p.H219N|COLEC11_ENST00000402922.1_Missense_Mutation_p.H169N|COLEC11_ENST00000402794.1_Missense_Mutation_p.H169N|COLEC11_ENST00000236693.7_Missense_Mutation_p.H216N|COLEC11_ENST00000404205.1_Missense_Mutation_p.H145N|COLEC11_ENST00000487365.1_3'UTR|COLEC11_ENST00000418971.2_Missense_Mutation_p.H233N NM_001255986.1 NP_001242915.1 Q9BWP8 COL11_HUMAN collectin sub-family member 11 219 C-type lectin. collagen mannose binding central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|soft_tissue(1) 22 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093) OV - Ovarian serous cystadenocarcinoma(76;0.127) GTACTCTGACCACTCCCCCAT 0.637000 6 33 0.0215528 0.0229339 1 1 0 LRRC41 10489 broad.mit.edu 37 1 46746110 46746110 + Missense_Mutation SNP C C T TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr1:46746110C>T ENST00000343304.6 - 6 2164 c.1879G>A c.(1879-1881)Gcc>Acc p.A627T LRRC41_ENST00000472710.1_5'UTR NM_006369.4 NP_006360.3 Q15345 LRC41_HUMAN leucine rich repeat containing 41 627 breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 28 Acute lymphoblastic leukemia(166;0.155) TGGGGAGAGGCAAAGGTGGCA 0.577000 7 56 0 0 1 0 0 YY1 7528 broad.mit.edu 37 14 100728701 100728701 + Nonsense_Mutation SNP C C G TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr14:100728701C>G ENST00000262238.4 + 2 1000 c.740C>G c.(739-741)tCa>tGa p.S247* NM_003403.3 NP_003394.1 P25490 TYY1_HUMAN YY1 transcription factor 247 cell differentiation|cellular response to UV|double-strand break repair via homologous recombination|negative regulation of transcription from RNA polymerase II promoter|response to UV-C|spermatogenesis Ino80 complex|nuclear matrix|plasma membrane four-way junction DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding cervix(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(1)|prostate(4)|skin(1) 11 Melanoma(154;0.152) GGAGAGAACTCACCTCCTGAT 0.388000 4 67 0 0 1 0 0 ARMC2 84071 broad.mit.edu 37 6 109215684 109215684 + Missense_Mutation SNP G G T TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr6:109215684G>T ENST00000392644.4 + 6 854 c.686G>T c.(685-687)aGa>aTa p.R229I ARMC2_ENST00000368972.3_Missense_Mutation_p.R64I NM_032131.4 NP_115507.4 Q8NEN0 ARMC2_HUMAN armadillo repeat containing 2 229 binding endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1) 24 all_cancers(87;1.14e-07)|Acute lymphoblastic leukemia(125;2.3e-10)|all_hematologic(75;3.3e-08)|all_epithelial(87;0.000111)|Colorectal(196;0.03)|all_lung(197;0.11) Epithelial(106;0.000197)|BRCA - Breast invasive adenocarcinoma(108;0.000236)|all cancers(137;0.000279)|OV - Ovarian serous cystadenocarcinoma(136;0.00434) CAGGGGAAGAGACATGCGAGG 0.483000 6 40 2.7689e-08 3.7493e-08 1 1 0 PIAS3 10401 broad.mit.edu 37 1 145578392 145578392 + Silent SNP C C T TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr1:145578392C>T ENST00000393045.2 + 2 445 c.355C>T c.(355-357)Ctg>Ttg p.L119L PIAS3_ENST00000369298.1_Intron|PIAS3_ENST00000369299.3_Silent_p.L110L NM_006099.3 NP_006090.2 Q9Y6X2 PIAS3_HUMAN protein inhibitor of activated STAT, 3 119 PINIT.|Pro-rich. positive regulation of protein sumoylation|protein sumoylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear speck enzyme binding|nucleic acid binding|protein C-terminus binding|zinc ion binding cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2) 28 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) GCACCCCCCTCTGCCCCAGCC 0.617000 3 53 0 0 1 0 0 TUBA3D 113457 broad.mit.edu 37 2 132240253 132240253 + Silent SNP C C T TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr2:132240253C>T ENST00000321253.6 + 5 1292 c.1185C>T c.(1183-1185)ttC>ttT p.F395F NM_080386.3 NP_525125.2 Q13748 TBA3C_HUMAN tubulin, alpha 3d 395 'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|protein binding|structural molecule activity breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(3) 32 BRCA - Breast invasive adenocarcinoma(221;0.13) ACCATAAGTTCGATCTCATGT 0.642000 5 120 0 0 1 0 0 CATSPER2P1 440278 broad.mit.edu 37 15 44028362 44028362 + RNA SNP C C T TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr15:44028362C>T ENST00000381680.2 - 0 1422 NR_002318.2 CCTTGAGGGCCCTGACCAGGA 0.488000 11 163 0 0 1 0 0 SPAG4 6676 broad.mit.edu 37 20 34208665 34208665 + Silent SNP G G A TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr20:34208665G>A ENST00000374273.3 + 11 1249 c.1137G>A c.(1135-1137)gaG>gaA p.E379E NM_003116.1 NP_003107.1 Q9NPE6 SPAG4_HUMAN sperm associated antigen 4 379 SUN. spermatogenesis cilium|flagellar axoneme|integral to membrane structural molecule activity p.E379D(1) NS(1)|cervix(5)|kidney(1)|large_intestine(3)|lung(10)|ovary(1) 21 Lung NSC(9;0.0053)|all_lung(11;0.00785) BRCA - Breast invasive adenocarcinoma(18;0.0127) TCGATGTTGAGAAATCGGAGA 0.507000 14 90 0 0 1 0 0 PCDHA4 56144 broad.mit.edu 37 5 140188665 140188665 + Missense_Mutation SNP C C G TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr5:140188665C>G ENST00000530339.1 + 1 1893 c.1893C>G c.(1891-1893)atC>atG p.I631M PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000356878.4_Missense_Mutation_p.I631M|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000512229.2_Missense_Mutation_p.I631M|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron NM_018907.2 NP_061730.1 breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 78 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTGGCGAGATCAGCACAACGC 0.682000 4 69 0 0 1 0 0 GOLM1 51280 broad.mit.edu 37 9 88650475 88650475 + Missense_Mutation SNP C C A TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr9:88650475C>A ENST00000388712.3 - 8 991 c.823G>T c.(823-825)Ggc>Tgc p.G275C GOLM1_ENST00000388711.3_Missense_Mutation_p.G275C NM_016548.3 NP_057632.2 Q8NBJ4 GOLM1_HUMAN golgi membrane protein 1 275 Golgi apparatus|integral to plasma membrane breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1) 17 TGCTCCCGGCCTGGCTCCTGC 0.612000 OREG0019278 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 6 147 0.0215528 0.0229339 1 1 0 ZBTB12 221527 broad.mit.edu 37 6 31868052 31868052 + Missense_Mutation SNP C C T TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr6:31868052C>T ENST00000375527.2 - 2 1206 c.1031G>A c.(1030-1032)gGc>gAc p.G344D C2_ENST00000469372.1_Intron NM_181842.2 NP_862825.1 Q9Y330 ZBT12_HUMAN zinc finger and BTB domain containing 12 344 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(1)|lung(5)|prostate(1)|skin(1) 10 CTTCTCCACGCCCTGGAACAC 0.622000 3 30 0 0 1 0 0 ZNF43 7594 broad.mit.edu 37 19 21991595 21991595 + Missense_Mutation SNP T T C TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr19:21991595T>C ENST00000594012.1 - 7 1740 c.1226A>G c.(1225-1227)gAa>gGa p.E409G ZNF43_ENST00000354959.4_Missense_Mutation_p.E415G|ZNF43_ENST00000595461.1_Missense_Mutation_p.E409G|ZNF43_ENST00000598381.1_Missense_Mutation_p.E409G NM_001256649.1|NM_001256651.1|NM_001256653.1|NM_001256654.1 NP_001243578.1|NP_001243580.1|NP_001243582.1|NP_001243583.1 P17038 ZNF43_HUMAN zinc finger protein 43 415 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2) 51 Renal(1328;0.000219)|Hepatocellular(1079;0.121) GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127) TAACTTATGTTCAGTAAGCTT 0.363000 5 152 0 0 1 0 0 SF3A1 10291 broad.mit.edu 37 22 30741131 30741131 + Missense_Mutation SNP G G A TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr22:30741131G>A ENST00000215793.8 - 4 596 c.442C>T c.(442-444)Cct>Tct p.P148S SF3A1_ENST00000439242.1_Intron NM_005877.4 NP_005868.1 Q15459 SF3A1_HUMAN splicing factor 3a, subunit 1, 120kDa nuclear mRNA 3'-splice site recognition catalytic step 2 spliceosome|nucleoplasm|U2-type spliceosomal complex protein binding|RNA binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|urinary_tract(1) 29 TCAAACTCAGGAGGAGGCTCT 0.542000 3 19 0 0 1 0 0 NUTM2A 728118 broad.mit.edu 37 10 88994223 88994223 + Nonsense_Mutation SNP C C T TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr10:88994223C>T ENST00000381707.2 + 7 2778 c.2395C>T c.(2395-2397)Cag>Tag p.Q799* NUTM2A-AS1_ENST00000451940.2_RNA|NUTM2A_ENST00000381689.4_Intron NM_001099338.1 NP_001092808.1 NUT family member 2A GGGAACTCATCAGTTCCCATC 0.592000 4 26 0 0 1 0 0 NUP98 4928 broad.mit.edu 37 11 3721910 3721910 + Silent SNP C C T TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr11:3721910C>T ENST00000324932.7 - 24 4092 c.3672G>A c.(3670-3672)ctG>ctA p.L1224L NUP98_ENST00000355260.3_Silent_p.L1224L|NUP98_ENST00000359171.4_Silent_p.L1224L NM_016320.4|NM_139132.3 NP_057404.2|NP_624358.2 P52948 NUP98_HUMAN nucleoporin 98kDa 1241 carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex protein binding|structural constituent of nuclear pore|transporter activity NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 66 Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227) BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199) CAGCAACTCCCAGATTGGGGA 0.413000 T """HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11""" AML 16 47 0 0 1 0 0 GPR15 2838 broad.mit.edu 37 3 98251957 98251957 + Silent SNP C C G TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr3:98251957C>G ENST00000284311.3 + 1 1215 c.1080C>G c.(1078-1080)ctC>ctG p.L360L NM_005290.1 NP_005281.1 P49685 GPR15_HUMAN G protein-coupled receptor 15 360 integral to plasma membrane purinergic nucleotide receptor activity, G-protein coupled endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 Lung NSC(201;7.93e-06)|all_neural(597;0.00172)|Hepatocellular(537;0.00825)|Myeloproliferative disorder(1037;0.0255) Lung(72;0.246) CTGTGTCACTCTAAAGGGAAC 0.433000 3 38 0 0 1 0 0 XYLT1 64131 broad.mit.edu 37 16 17221624 17221624 + Missense_Mutation SNP C C A TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr16:17221624C>A ENST00000261381.6 - 10 2206 c.2122G>T c.(2122-2124)Gct>Tct p.A708S NM_022166.3 NP_071449.1 Q86Y38 XYLT1_HUMAN xylosyltransferase I 708 glycosaminoglycan biosynthetic process endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane acetylglucosaminyltransferase activity|protein xylosyltransferase activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 TTGCTCACAGCCAGATTGGTA 0.512000 13 107 0.000151284 0.000181139 1 1 0 NFE2L2 4780 broad.mit.edu 37 2 178098960 178098960 + Missense_Mutation SNP C C G TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr2:178098960C>G ENST00000397062.3 - 2 639 c.85G>C c.(85-87)Gat>Cat p.D29H NFE2L2_ENST00000423513.1_Missense_Mutation_p.D13H|NFE2L2_ENST00000446151.2_Missense_Mutation_p.D13H|NFE2L2_ENST00000464747.1_Missense_Mutation_p.D13H|NFE2L2_ENST00000397063.4_Missense_Mutation_p.D13H NM_006164.4 NP_006155.2 Q16236 NF2L2_HUMAN nuclear factor, erythroid 2-like 2 29 transcription from RNA polymerase II promoter centrosome|cytosol|nucleus|plasma membrane protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.D29H(11)|p.D29N(2)|p.D29Y(2) central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4) 158 Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935) ACTCCAAGATCTATATCTTGC 0.363000 Mis """NSCLC, HNSCC""" HNSCC(56;0.16) 4 51 0 0 1 0 0 PICK1 9463 broad.mit.edu 37 22 38465038 38465038 + Splice_Site SNP A A G TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr22:38465038A>G ENST00000404072.3 + 6 696 c.e6-1 PICK1_ENST00000468288.1_Splice_Site|PICK1_ENST00000356976.3_Splice_Site|RP5-1039K5.13_ENST00000445483.1_RNA NM_001039583.1|NM_001039584.1 NP_001034672.1|NP_001034673.1 Q9NRD5 PICK1_HUMAN protein interacting with PRKCA 1 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|DNA methylation involved in embryo development|DNA methylation involved in gamete generation|monoamine transport|neuronal ion channel clustering|protein phosphorylation|receptor clustering|retrograde vesicle-mediated transport, Golgi to ER|synaptic transmission cell junction|endocytic vesicle membrane|Golgi apparatus|perinuclear region of cytoplasm|presynaptic membrane ATPase activity|metal ion binding|protein C-terminus binding|protein kinase C binding|receptor binding cervix(1)|endometrium(3)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1) 13 Melanoma(58;0.045) TCCCCCGCTCAGTGTTGAAGA 0.627000 3 7 0 0 1 0 0 GABRP 2568 broad.mit.edu 37 5 170216203 170216203 + Missense_Mutation SNP G G C TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr5:170216203G>C ENST00000518525.1 + 4 588 c.124G>C c.(124-126)Gag>Cag p.E42Q GABRP_ENST00000265294.4_Missense_Mutation_p.E42Q|GABRP_ENST00000519385.1_Missense_Mutation_p.E42Q|GABRP_ENST00000519598.1_Missense_Mutation_p.E42Q O00591 GBRP_HUMAN gamma-aminobutyric acid (GABA) A receptor, pi 42 cell junction|chloride channel complex|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity NS(1)|breast(1)|cervix(1)|endometrium(5)|large_intestine(4)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 29 Renal(175;0.000159)|Lung NSC(126;0.0122)|all_lung(126;0.0193) Medulloblastoma(196;0.0109)|all_neural(177;0.0298) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) GCCTGGCTTTGAGAACCTCAC 0.483000 5 23 0 0 1 0 0 EPC1 80314 broad.mit.edu 37 10 32573890 32573890 + Missense_Mutation SNP C C A TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr10:32573890C>A ENST00000319778.6 - 10 1782 c.1480G>T c.(1480-1482)Gtc>Ttc p.V494F EPC1_ENST00000263062.8_Missense_Mutation_p.V494F|EPC1_ENST00000375110.2_Missense_Mutation_p.V444F NM_001272004.1|NM_001272019.2 NP_001258933.1|NP_001258948.1 Q9H2F5 EPC1_HUMAN enhancer of polycomb homolog 1 (Drosophila) 494 histone H2A acetylation|histone H4 acetylation|negative regulation of gene expression, epigenetic|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of growth|transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear membrane|Piccolo NuA4 histone acetyltransferase complex breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(5)|urinary_tract(1) 24 Prostate(175;0.0199) AACTGATTGACTGGAGAATGT 0.393000 6 88 0.0215528 0.0229339 1 1 0 SNORA76C 677842 broad.mit.edu 37 17 62223730 62223730 + RNA SNP C C T TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr17:62223730C>T ENST00000408535.2 + 0 32 NR_002995.1 CGAGCTTCCTCGTGGCGCCGG 0.632000 7 87 0 0 1 0 0 DVL2 1856 broad.mit.edu 37 17 7130413 7130413 + Silent SNP C C T TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr17:7130413C>T ENST00000005340.5 - 13 1821 c.1539G>A c.(1537-1539)gaG>gaA p.E513E DVL2_ENST00000575458.1_Silent_p.E507E NM_004422.2 NP_004413.1 O14641 DVL2_HUMAN dishevelled segment polarity protein 2 513 canonical Wnt receptor signaling pathway involved in regulation of cell proliferation|intracellular signal transduction|neural tube closure|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|segment specification|transcription from RNA polymerase II promoter cytosol|nucleus|plasma membrane frizzled binding|identical protein binding|signal transducer activity breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(7)|skin(1) 25 ACTTACAGCTCTCACAGCCAC 0.582000 5 50 0 0 1 0 0 TMEM116 89894 broad.mit.edu 37 12 112374514 112374514 + Silent SNP G G A TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr12:112374514G>A ENST00000354825.3 - 10 949 c.294C>T c.(292-294)ctC>ctT p.L98L TMEM116_ENST00000550831.3_Silent_p.L98L|TMEM116_ENST00000355445.3_Silent_p.L155L|TMEM116_ENST00000437003.2_Silent_p.L98L|TMEM116_ENST00000549537.2_Intron|TMEM116_ENST00000552374.2_Silent_p.L190L Q8NCL8 TM116_HUMAN transmembrane protein 116 98 integral to membrane endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(1) 8 TAAGGAGGCTGAGTACAAAGC 0.483000 4 38 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179516232 179516232 + Missense_Mutation SNP T T A TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr2:179516232T>A ENST00000589042.1 - 207 39719 c.39495A>T c.(39493-39495)gaA>gaT p.E13165D TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E11658D|TTN_ENST00000342992.6_Missense_Mutation_p.E10731D|TTN-AS1_ENST00000592630.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 11518 Ig-like 87. 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) GCACCTTCTTTTCAGGAACAA 0.478000 8 26 0 0 1 0 0 CTDSP1 58190 broad.mit.edu 37 2 219268015 219268015 + Nonsense_Mutation SNP C C T TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr2:219268015C>T ENST00000273062.2 + 6 868 c.532C>T c.(532-534)Cga>Tga p.R178* CTDSP1_ENST00000488627.1_3'UTR|CTDSP1_ENST00000443891.1_Nonsense_Mutation_p.R177* NM_021198.2|NM_182642.2 NP_067021.1|NP_872580.1 Q9GZU7 CTDS1_HUMAN CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase 1 178 FCP1 homology. protein dephosphorylation|regulation of transcription from RNA polymerase II promoter nucleus CTD phosphatase activity|metal ion binding|protein binding NS(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1) 8 Renal(207;0.0915) Epithelial(149;9.96e-07)|all cancers(144;0.00017)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) CCGGCTGTTTCGAGAGTCCTG 0.647000 8 30 0 0 1 0 0 PLA2G12B 84647 broad.mit.edu 37 10 74701084 74701084 + Missense_Mutation SNP C C A TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr10:74701084C>A ENST00000373032.3 - 3 401 c.309G>T c.(307-309)ttG>ttT p.L103F NM_032562.2 NP_115951.2 Q9BX93 PG12B_HUMAN phospholipase A2, group XIIB 103 lipid catabolic process extracellular region calcium ion binding|phospholipase A2 activity breast(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(2)|skin(2) 9 Prostate(51;0.0198) CTGGAATGCCCAAGTCCATCT 0.468000 12 87 6.40141e-05 7.78283e-05 1 1 0 SEPHS2 22928 broad.mit.edu 37 16 30455767 30455767 + Missense_Mutation SNP G G A TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr16:30455767G>A ENST00000478753.2 - 1 1735 c.1282C>T c.(1282-1284)Cgt>Tgt p.R428C SEPHS2_ENST00000542752.1_Missense_Mutation_p.R371C|SEPHS2_ENST00000500504.2_Missense_Mutation_p.R428C Q99611 SPS2_HUMAN selenophosphate synthetase 2 428 selenocysteine biosynthetic process ATP binding|selenide, water dikinase activity breast(3)|cervix(1)|kidney(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1) 10 GTGGCCCCACGAGGCAGGACT 0.537000 5 34 0 0 1 0 0 TMEM200C 645369 broad.mit.edu 37 18 5890256 5890256 + Missense_Mutation SNP T T C TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr18:5890256T>C ENST00000581347.2 - 3 2452 c.1807A>G c.(1807-1809)Atg>Gtg p.M603V RP11-945C19.4_ENST00000577694.1_RNA|TMEM200C_ENST00000383490.2_Missense_Mutation_p.M603V A6NKL6 T200C_HUMAN transmembrane protein 200C integral to membrane autonomic_ganglia(1)|endometrium(1)|large_intestine(4)|lung(5)|stomach(1) 12 CTGGAAATCATGATGAGTTTC 0.557000 3 40 0 0 1 0 0 PPIP5K2 23262 broad.mit.edu 37 5 102482250 102482250 + Silent SNP G G A TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr5:102482250G>A ENST00000321521.9 + 6 1080 c.507G>A c.(505-507)ggG>ggA p.G169G PPIP5K2_ENST00000414217.1_Silent_p.G169G|PPIP5K2_ENST00000513500.1_3'UTR|PPIP5K2_ENST00000358359.3_Silent_p.G169G O43314 VIP2_HUMAN diphosphoinositol pentakisphosphate kinase 2 169 inositol metabolic process cytosol acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 TGATTGAAGGGGAAGATCATG 0.323000 6 51 0 0 1 0 0 TGM3 7053 broad.mit.edu 37 20 2291683 2291683 + Missense_Mutation SNP G G A TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr20:2291683G>A ENST00000381458.5 + 4 511 c.448G>A c.(448-450)Gct>Act p.A150T NM_003245.3 NP_003236.3 Q08188 TGM3_HUMAN transglutaminase 3 150 cell envelope organization|hair follicle morphogenesis|keratinization|peptide cross-linking|protein tetramerization cytoplasm|extrinsic to internal side of plasma membrane acyltransferase activity|calcium ion binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding|protein-glutamine gamma-glutamyltransferase activity breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(11)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2) 39 L-Glutamine(DB00130) GGGTAACCACGCTGAGAGAGA 0.483000 20 78 0 0 1 0 0 RAB3GAP1 22930 broad.mit.edu 37 2 135890467 135890467 + Silent SNP C C T TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr2:135890467C>T ENST00000264158.8 + 14 1282 c.1239C>T c.(1237-1239)ttC>ttT p.F413F RAB3GAP1_ENST00000487003.1_3'UTR|RAB3GAP1_ENST00000539493.1_Silent_p.F369F|RAB3GAP1_ENST00000442034.1_Silent_p.F413F NM_012233.2 NP_036365.1 Q15042 RB3GP_HUMAN RAB3 GTPase activating protein subunit 1 (catalytic) 413 centrosome|nucleus|soluble fraction Rab GTPase activator activity|Rab GTPase binding breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 32 BRCA - Breast invasive adenocarcinoma(221;0.117) CCTTCAAGTTCTTATTCCCTG 0.299000 8 76 0 0 1 0 0 CTDNEP1 23399 broad.mit.edu 37 17 7150433 7150433 + Missense_Mutation SNP C C A TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr17:7150433C>A ENST00000573600.1 - 4 659 c.238G>T c.(238-240)Gtc>Ttc p.V80F CTDNEP1_ENST00000318988.6_Missense_Mutation_p.V80F|CTDNEP1_ENST00000572043.1_5'UTR|CTDNEP1_ENST00000574322.1_Missense_Mutation_p.V80F|RP1-4G17.5_ENST00000577138.1_3'UTR O95476 CNEP1_HUMAN CTD nuclear envelope phosphatase 1 80 FCP1 homology. nuclear envelope organization|protein dephosphorylation endoplasmic reticulum membrane|integral to membrane|nuclear membrane protein serine/threonine phosphatase activity central_nervous_system(9)|kidney(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1) 15 GGCCTCAGGACCCCATCATGG 0.547000 9 53 1.12685e-05 1.41642e-05 1 1 0 ZKSCAN5 23660 broad.mit.edu 37 7 99123464 99123464 + Silent SNP C C T TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr7:99123464C>T ENST00000394170.2 + 6 1052 c.801C>T c.(799-801)ctC>ctT p.L267L ZKSCAN5_ENST00000451158.1_Silent_p.L267L|ZKSCAN5_ENST00000326775.5_Silent_p.L267L NM_014569.3 NP_055384.1 Q9Y2L8 ZKSC5_HUMAN zinc finger with KRAB and SCAN domains 5 267 KRAB. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 21 all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166) ATATGGAGCTCATAGTGAAGC 0.428000 5 81 0 0 1 0 0 PCDHGA10 56106 broad.mit.edu 37 5 140794462 140794462 + Missense_Mutation SNP G G T TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr5:140794462G>T ENST00000398610.2 + 1 1720 c.1720G>T c.(1720-1722)Gac>Tac p.D574Y PCDHGA9_ENST00000573521.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB3_ENST00000576222.1_Intron NM_018913.2|NM_032090.1 NP_061736.1|NP_114479.1 breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCTCCCCACAGACGGTTCCAC 0.662000 9 151 0.000673444 0.000776861 1 1 0 VWA3B 200403 broad.mit.edu 37 2 98736153 98736153 + Missense_Mutation SNP G G C TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr2:98736153G>C ENST00000477737.1 + 4 673 c.469G>C c.(469-471)Gat>Cat p.D157H VWA3B_ENST00000435344.1_Missense_Mutation_p.D157H|VWA3B_ENST00000451075.2_Intron NM_144992.4 NP_659429.4 Q502W6 VWA3B_HUMAN von Willebrand factor A domain containing 3B 157 NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 70 GGGGGAGCTTGATCTGTGCCG 0.517000 20 116 0 0 1 0 0 SPECC1 92521 broad.mit.edu 37 17 20108964 20108964 + Silent SNP C C A TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr17:20108964C>A ENST00000395530.2 + 2 1567 c.1359C>A c.(1357-1359)gcC>gcA p.A453A AC004702.2_ENST00000580225.1_lincRNA|SPECC1_ENST00000395522.2_Silent_p.A453A|SPECC1_ENST00000395529.3_Silent_p.A534A|SPECC1_ENST00000261503.5_Silent_p.A534A|SPECC1_ENST00000395527.4_Silent_p.A534A|SPECC1_ENST00000395525.3_Silent_p.A453A|SPECC1_ENST00000472876.1_Intron|SPECC1_ENST00000536879.1_Intron NM_001033555.2 NP_001028727.1 Q5M775 CYTSB_HUMAN sperm antigen with calponin homology and coiled-coil domains 1 534 nucleus breast(1)|large_intestine(3)|ovary(4) 8 KIRC - Kidney renal clear cell carcinoma(2;0.166)|Kidney(2;0.196) ACATGATGGCCAAAACTTTGG 0.388000 5 52 0.000602214 0.000695966 1 1 0 SLC25A11 8402 broad.mit.edu 37 17 4841113 4841113 + Missense_Mutation SNP C C A TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr17:4841113C>A ENST00000225665.7 - 8 1208 c.868G>T c.(868-870)Ggc>Tgc p.G290C SLC25A11_ENST00000544061.2_Missense_Mutation_p.G239C NM_001165417.1|NM_003562.4 NP_001158889.1|NP_003553.2 Q02978 M2OM_HUMAN solute carrier family 25 (mitochondrial carrier; oxoglutarate carrier), member 11 290 gluconeogenesis integral to plasma membrane|mitochondrial inner membrane oxoglutarate:malate antiporter activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5) 10 GTGTGGGGGCCCAGGCGGGCA 0.612000 5 36 0.014758 0.0160005 1 1 0 CIZ1 25792 broad.mit.edu 37 9 130931369 130931369 + Missense_Mutation SNP C C T TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr9:130931369C>T ENST00000538431.1 - 15 2582 c.2335G>A c.(2335-2337)Gaa>Aaa p.E779K CIZ1_ENST00000277465.4_Missense_Mutation_p.E725K|CIZ1_ENST00000541172.1_Missense_Mutation_p.E652K|CIZ1_ENST00000325721.8_Missense_Mutation_p.E724K|CIZ1_ENST00000372948.3_Missense_Mutation_p.E697K|CIZ1_ENST00000476727.2_5'UTR|CIZ1_ENST00000393608.1_Missense_Mutation_p.E753K|CIZ1_ENST00000372938.5_Missense_Mutation_p.E753K|CIZ1_ENST00000357558.5_Missense_Mutation_p.E725K|CIZ1_ENST00000372954.1_Missense_Mutation_p.E673K NM_001257975.1 NP_001244904.1 Q9ULV3 CIZ1_HUMAN CDKN1A interacting zinc finger protein 1 753 nucleus nucleic acid binding|protein binding|zinc ion binding NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|liver(1)|lung(9)|ovary(3)|prostate(2)|urinary_tract(2) 35 atctcttcttcatcctcatca 0.552000 13 63 0 0 1 0 0 UNC13C 440279 broad.mit.edu 37 15 54542588 54542588 + Missense_Mutation SNP G G A TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr15:54542588G>A ENST00000545554.1 + 7 3394 c.3394G>A c.(3394-3396)Gga>Aga p.G1132R UNC13C_ENST00000537900.1_Missense_Mutation_p.G1130R|UNC13C_ENST00000260323.11_Missense_Mutation_p.G1132R Q8NB66 UN13C_HUMAN unc-13 homolog C (C. elegans) 1132 exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4) 121 GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124) TCTGGAGTGTGGAGTGAAATG 0.512000 8 39 0 0 1 0 0 DDX60 55601 broad.mit.edu 37 4 169157521 169157521 + Nonsense_Mutation SNP G G C TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr4:169157521G>C ENST00000393743.3 - 33 4706 c.4415C>G c.(4414-4416)tCa>tGa p.S1472* NM_017631.5 NP_060101.3 Q8IY21 DDX60_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 60 1472 ATP binding|ATP-dependent helicase activity|RNA binding breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4) 63 Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132) GBM - Glioblastoma multiforme(119;0.0485) AAAATGTTTTGAGCCTATATA 0.299000 7 27 0 0 1 0 0 CACNA1B 774 broad.mit.edu 37 9 141016298 141016298 + Missense_Mutation SNP C C A TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr9:141016298C>A ENST00000277551.2 + 47 6825 c.6680C>A c.(6679-6681)gCc>gAc p.A2227D CACNA1B_ENST00000371357.1_Silent_p.G2288G|CACNA1B_ENST00000371363.1_Silent_p.G2287G|CACNA1B_ENST00000277549.5_Silent_p.G1483G|CACNA1B_ENST00000371355.4_Silent_p.G2290G|CACNA1B_ENST00000371372.1_Silent_p.G2289G Q00975 CAC1B_HUMAN calcium channel, voltage-dependent, N type, alpha 1B subunit 0 membrane depolarization|synaptic transmission voltage-gated calcium channel complex ATP binding|protein C-terminus binding|voltage-gated calcium channel activity NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2) 80 all_cancers(76;0.166) OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476) Amlodipine(DB00381)|Gabapentin(DB00996) CCAACTCGGGCCGCTCCTCCA 0.652000 5 39 0.000602214 0.000695966 1 1 0 IGHA1 3493 broad.mit.edu 37 14 106173485 106173485 + RNA SNP G G T TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr14:106173485G>T ENST00000390547.2 - 0 1081 TTTATTCAGGGGTGGGGACAG 0.622000 3 27 1 1 1 1 0 RGPD8 727851 broad.mit.edu 37 2 113127775 113127775 + Missense_Mutation SNP G G C TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr2:113127775G>C ENST00000302558.3 - 23 5469 c.5278C>G c.(5278-5280)Cct>Gct p.P1760A RGPD8_ENST00000409750.1_Missense_Mutation_p.P1620A NM_001164463.1 NP_001157935.1 RANBP2-like and GRIP domain containing 8 p.P1760A(12) endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1) 10 GAACGGGAAGGATTTTCTTCC 0.308000 3 25 0 0 1 0 0 WDR53 348793 broad.mit.edu 37 3 196281336 196281336 + Missense_Mutation SNP C C G TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr3:196281336C>G ENST00000332629.5 - 4 1390 c.823G>C c.(823-825)Gag>Cag p.E275Q WDR53_ENST00000433160.1_Missense_Mutation_p.E116Q|WDR53_ENST00000429115.1_Missense_Mutation_p.E114Q NM_182627.1 NP_872433.1 Q7Z5U6 WDR53_HUMAN WD repeat domain 53 275 breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1) 13 all_cancers(143;8.88e-09)|Ovarian(172;0.0634)|Breast(254;0.135) Epithelial(36;1.6e-23)|all cancers(36;1.54e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.29e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00326) TGTTTTTTCTCAACTTCACTG 0.458000 4 71 0 0 1 0 0 GBP4 115361 broad.mit.edu 37 1 89654401 89654401 + Missense_Mutation SNP A A G TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr1:89654401A>G ENST00000355754.6 - 8 1371 c.1274T>C c.(1273-1275)cTt>cCt p.L425P NM_052941.4 NP_443173.2 Q96PP9 GBP4_HUMAN guanylate binding protein 4 425 cytoplasm GTP binding|GTPase activity central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(19)|skin(1)|stomach(2)|urinary_tract(1) 33 all cancers(265;0.00723)|Epithelial(280;0.0291) AAGCCGCTTAAGCTCAGCCTG 0.433000 18 164 0 0 1 0 0 TUBD1 51174 broad.mit.edu 37 17 57952060 57952060 + Missense_Mutation SNP G G T TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr17:57952060G>T ENST00000325752.3 - 6 1051 c.774C>A c.(772-774)gaC>gaA p.D258E TUBD1_ENST00000592426.1_Missense_Mutation_p.D258E|TUBD1_ENST00000340993.6_Intron|TUBD1_ENST00000376094.4_Intron|TUBD1_ENST00000394239.3_Missense_Mutation_p.D258E|TUBD1_ENST00000346141.6_Intron|TUBD1_ENST00000539018.1_Missense_Mutation_p.D42E NM_016261.3 NP_057345.2 Q9UJT1 TBD_HUMAN tubulin, delta 1 258 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) GCTCCATTAAGTCTCCTGTAA 0.338000 14 80 7.93312e-07 1.03212e-06 1 1 0 DLGAP4 22839 broad.mit.edu 37 20 35060760 35060760 + Missense_Mutation SNP G G A TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr20:35060760G>A ENST00000373913.3 + 3 1120 c.640G>A c.(640-642)Gag>Aag p.E214K DLGAP4_ENST00000339266.5_Missense_Mutation_p.E214K|DLGAP4_ENST00000373907.2_Missense_Mutation_p.E214K|DLGAP4_ENST00000401952.2_Missense_Mutation_p.E214K Q9Y2H0 DLGP4_HUMAN discs, large (Drosophila) homolog-associated protein 4 214 cell-cell signaling membrane protein binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 37 Breast(12;0.0192) Myeloproliferative disorder(115;0.00878) CTTGGACGGCGAGGCCGGCGC 0.657000 5 39 0 0 1 0 0 MKI67 4288 broad.mit.edu 37 10 129900873 129900873 + Missense_Mutation SNP G G C TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr10:129900873G>C ENST00000368654.3 - 13 9606 c.9231C>G c.(9229-9231)caC>caG p.H3077Q MKI67_ENST00000368653.3_Missense_Mutation_p.H2717Q NM_002417.4 NP_002408.3 P46013 KI67_HUMAN marker of proliferation Ki-67 3077 cell proliferation nucleolus ATP binding|protein C-terminus binding NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4) 159 all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203) CTTGTAATTTGTGTTCCTCTT 0.408000 12 159 0 0 1 0 0 BAZ2B 29994 broad.mit.edu 37 2 160294826 160294826 + Missense_Mutation SNP C C A TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr2:160294826C>A ENST00000392783.2 - 8 1776 c.1281G>T c.(1279-1281)ttG>ttT p.L427F BAZ2B_ENST00000355831.2_Missense_Mutation_p.L427F|BAZ2B_ENST00000392782.1_Missense_Mutation_p.L425F|BAZ2B_ENST00000343439.5_Missense_Mutation_p.L425F NM_013450.2 NP_038478.2 Q9UIF8 BAZ2B_HUMAN bromodomain adjacent to zinc finger domain, 2B 427 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1) 82 GTTTGGATCTCAATTCACTGG 0.303000 3 40 0.115264 0.120019 1 1 0 BAZ2B 29994 broad.mit.edu 37 2 160194240 160194240 + Missense_Mutation SNP A A G TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr2:160194240A>G ENST00000392783.2 - 32 5993 c.5498T>C c.(5497-5499)gTa>gCa p.V1833A BAZ2B_ENST00000355831.2_Missense_Mutation_p.V1799A|BAZ2B_ENST00000392782.1_Missense_Mutation_p.V1797A|BAZ2B_ENST00000343439.5_Missense_Mutation_p.V1733A NM_013450.2 NP_038478.2 Q9UIF8 BAZ2B_HUMAN bromodomain adjacent to zinc finger domain, 2B 1833 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1) 82 TTCAAAATATACCAAGTCCTC 0.403000 5 37 0 0 1 0 0 PML 5371 broad.mit.edu 37 15 74315653 74315653 + Missense_Mutation SNP G G A TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr15:74315653G>A ENST00000565898.1 + 3 1171 c.1087G>A c.(1087-1089)Gag>Aag p.E363K PML_ENST00000268058.3_Missense_Mutation_p.E363K|PML_ENST00000569477.1_Missense_Mutation_p.E363K|PML_ENST00000435786.2_Missense_Mutation_p.E363K|PML_ENST00000436891.3_Missense_Mutation_p.E363K|PML_ENST00000268059.6_Missense_Mutation_p.E363K|PML_ENST00000567543.1_Missense_Mutation_p.E363K|PML_ENST00000569161.1_3'UTR|PML_ENST00000569965.1_Missense_Mutation_p.E363K|PML_ENST00000395132.2_Missense_Mutation_p.E363K|PML_ENST00000354026.6_Missense_Mutation_p.E363K|PML_ENST00000563500.1_Missense_Mutation_p.E363K|PML_ENST00000359928.4_Missense_Mutation_p.E363K|PML_ENST00000564428.1_Missense_Mutation_p.E363K|PML_ENST00000395135.3_Missense_Mutation_p.E363K P29590 PML_HUMAN promyelocytic leukemia 363 cell cycle arrest|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 resulting in induction of apoptosis|endoplasmic reticulum calcium ion homeostasis|induction of apoptosis|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|maintenance of protein location in nucleus|negative regulation of angiogenesis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of mitotic cell cycle|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|negative regulation of telomerase activity|negative regulation of telomere maintenance via telomerase|negative regulation of transcription, DNA-dependent|negative regulation of translation in response to oxidative stress|PML body organization|positive regulation of defense response to virus by host|positive regulation of histone deacetylation|protein complex assembly|protein stabilization|protein targeting|regulation of calcium ion transport into cytosol|regulation of protein phosphorylation|response to hypoxia|response to virus|transcription, DNA-dependent cytoplasm|cytosol|early endosome membrane|extrinsic to endoplasmic reticulum membrane|insoluble fraction|nuclear matrix|nuclear membrane|nucleolus|nucleus|PML body cobalt ion binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|SUMO binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding p.E363K(3) breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 31 GCGCCAGGAGGAGCCCCAGAG 0.652000 T """RARA, PAX5""" """APL, ALL""" 3 36 0 0 1 0 0 RALGAPB 57148 broad.mit.edu 37 20 37150306 37150306 + Missense_Mutation SNP G G C TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr20:37150306G>C ENST00000262879.6 + 10 1868 c.1584G>C c.(1582-1584)aaG>aaC p.K528N RALGAPB_ENST00000397042.3_Missense_Mutation_p.K528N|RALGAPB_ENST00000537204.1_Intron|RALGAPB_ENST00000397040.1_Missense_Mutation_p.K528N|RALGAPB_ENST00000397038.1_Missense_Mutation_p.K306N Q86X10 RLGPB_HUMAN Ral GTPase activating protein, beta subunit (non-catalytic) 528 activation of Ral GTPase activity intracellular protein heterodimerization activity|Ral GTPase activator activity breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 65 GTAGCAAGAAGACTGGAGAAG 0.378000 5 97 0 0 1 0 0 OPHN1 4983 broad.mit.edu 37 X 67273548 67273548 + Missense_Mutation SNP G G C TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chrX:67273548G>C ENST00000355520.5 - 22 2904 c.2263C>G c.(2263-2265)Caa>Gaa p.Q755E OPHN1_ENST00000540071.1_Missense_Mutation_p.Q647E NM_002547.2 NP_002538.1 O60890 OPHN1_HUMAN oligophrenin 1 755 Pro-rich. axon guidance|endocytosis|filopodium assembly|small GTPase mediated signal transduction|substrate-dependent cell migration, cell extension axon|cell junction|cytosol|dendritic spine|synapse cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|skin(2) 31 TCTGGCTTTTGGGGAGTAGCT 0.547000 7 22 0 0 1 0 0 DEPDC1 55635 broad.mit.edu 37 1 68948511 68948511 + Missense_Mutation SNP G G T TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr1:68948511G>T ENST00000456315.2 - 8 1094 c.980C>A c.(979-981)tCt>tAt p.S327Y RP4-694A7.2_ENST00000425820.1_RNA|DEPDC1_ENST00000370966.5_Intron NM_001114120.1 NP_001107592.1 Q5TB30 DEP1A_HUMAN DEP domain containing 1 327 intracellular signal transduction|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent transcriptional repressor complex GTPase activator activity|protein binding endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 13 OV - Ovarian serous cystadenocarcinoma(397;7.21e-36) GAATTTTGAAGACTGTGGATC 0.343000 5 48 3.59834e-05 4.42602e-05 1 1 0 MUSK 4593 broad.mit.edu 37 9 113547941 113547941 + Missense_Mutation SNP A A G TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr9:113547941A>G ENST00000416899.2 + 11 1823 c.1697A>G c.(1696-1698)aAc>aGc p.N566S MUSK_ENST00000189978.5_Missense_Mutation_p.N574S|MUSK_ENST00000374448.4_Missense_Mutation_p.N574S|MUSK_ENST00000374438.1_Missense_Mutation_p.N90S O15146 MUSK_HUMAN muscle, skeletal, receptor tyrosine kinase 574 transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 49 CCAAGGAATAACATTGAATAT 0.433000 4 75 0 0 1 0 0 PRKACA 5566 broad.mit.edu 37 19 14208663 14208663 + Silent SNP C C A TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr19:14208663C>A ENST00000308677.4 - 6 655 c.459G>T c.(457-459)ctG>ctT p.L153L PRKACA_ENST00000589994.1_Silent_p.L145L|PRKACA_ENST00000590853.1_Intron|PRKACA_ENST00000350356.3_5'UTR NM_002730.3 NP_002721.1 P17612 KAPCA_HUMAN protein kinase, cAMP-dependent, catalytic, alpha 153 Protein kinase. activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|G2/M transition of mitotic cell cycle|gluconeogenesis|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|regulation of insulin secretion|transmembrane transport|triglyceride catabolic process|water transport cAMP-dependent protein kinase complex|centrosome|cytosol|nucleoplasm|plasma membrane ATP binding|cAMP-dependent protein kinase activity|cAMP-dependent protein kinase inhibitor activity|protein kinase binding central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1) 16 ACTCAAAGGTCAGGACGATCT 0.572000 4 36 0.217242 0.22074 1 1 0 PLSCR1 5359 broad.mit.edu 37 3 146251317 146251317 + Missense_Mutation SNP G G T TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr3:146251317G>T ENST00000342435.4 - 3 444 c.34C>A c.(34-36)Cac>Aac p.H12N PLSCR1_ENST00000448205.1_5'UTR|PLSCR1_ENST00000487389.1_Missense_Mutation_p.H5N|PLSCR1_ENST00000448787.2_Silent_p.L3L NM_021105.2 NP_066928.1 O15162 PLS1_HUMAN phospholipid scramblase 1 12 phospholipid scrambling|platelet activation|response to virus integral to membrane|plasma membrane calcium ion binding|phospholipid scramblase activity|SH3 domain binding breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1) 15 GTTTCCGGGTGAGAAGCATTC 0.353000 6 54 0.00116845 0.00133567 1 1 0 ZBTB22 9278 broad.mit.edu 37 6 33282940 33282940 + Missense_Mutation SNP G G A TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr6:33282940G>A ENST00000431845.2 - 2 1905 c.1754C>T c.(1753-1755)tCc>tTc p.S585F ZBTB22_ENST00000418724.1_Missense_Mutation_p.S585F NM_005453.4 NP_005444.4 O15209 ZBT22_HUMAN zinc finger and BTB domain containing 22 585 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(3) 21 GGACGGCAAGGATGGCCCCGT 0.726000 4 28 0 0 1 0 0 ADGRG1 9289 broad.mit.edu 37 16 57695753 57695753 + Silent SNP G G T TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr16:57695753G>T ENST00000562631.1 + 13 2341 c.1809G>T c.(1807-1809)gtG>gtT p.V603V GPR56_ENST00000568909.1_Silent_p.V609V|GPR56_ENST00000456916.1_Silent_p.V609V|GPR56_ENST00000567835.1_Silent_p.V609V|GPR56_ENST00000388813.5_Silent_p.V603V|GPR56_ENST00000544297.1_Silent_p.V428V|GPR56_ENST00000562558.1_Silent_p.V603V|GPR56_ENST00000379694.4_Silent_p.V439V|GPR56_ENST00000538815.1_Silent_p.V603V|GPR56_ENST00000568908.1_Silent_p.V603V|GPR56_ENST00000388812.4_Silent_p.V609V|GPR56_ENST00000379696.3_Silent_p.V609V|GPR56_ENST00000540164.2_Silent_p.V603V Q9Y653 GPR56_HUMAN G protein-coupled receptor 56 609 brain development|cell adhesion|cell-cell signaling|neuropeptide signaling pathway integral to plasma membrane G-protein coupled receptor activity kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1) 15 GGTCACATGTGCTGACACTGC 0.582000 4 34 0.150653 0.155077 1 1 0 GET4 51608 broad.mit.edu 37 7 927057 927057 + Missense_Mutation SNP G G A TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr7:927057G>A ENST00000407192.1 + 3 2725 c.208G>A c.(208-210)Gtg>Atg p.V70M GET4_ENST00000265857.3_Missense_Mutation_p.V123M Q7L5D6 GET4_HUMAN golgi to ER traffic protein 4 homolog (S. cerevisiae) 123 tail-anchored membrane protein insertion into ER membrane|transport BAT3 complex protein binding breast(1)|large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 11 TCCTGAGCGCGTGACCTTTGT 0.622000 17 56 0 0 1 0 0 FCGBP 8857 broad.mit.edu 37 19 40398419 40398419 + Missense_Mutation SNP G G A TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr19:40398419G>A ENST00000221347.6 - 14 6555 c.6548C>T c.(6547-6549)tCa>tTa p.S2183L NM_003890.2 NP_003881.2 Q9Y6R7 FCGBP_HUMAN Fc fragment of IgG binding protein 2183 VWFD 5. extracellular region protein binding NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3) 165 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) CGAGAGCCCTGAGGTTGTGGT 0.667000 4 47 0 0 1 0 0 HECTD1 25831 broad.mit.edu 37 14 31576793 31576793 + Missense_Mutation SNP G G A TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr14:31576793G>A ENST00000399332.1 - 37 7086 c.6598C>T c.(6598-6600)Cca>Tca p.P2200S HECTD1_ENST00000553700.1_Missense_Mutation_p.P2200S NM_015382.2 NP_056197.2 Q9ULT8 HECD1_HUMAN HECT domain containing E3 ubiquitin protein ligase 1 2200 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) TCATCATCTGGAAAATTATCA 0.403000 4 40 0 0 1 0 0 ZNF773 374928 broad.mit.edu 37 19 58017833 58017833 + Missense_Mutation SNP C C A TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr19:58017833C>A ENST00000282292.4 + 4 510 c.370C>A c.(370-372)Ccc>Acc p.P124T ZNF773_ENST00000598770.1_Missense_Mutation_p.P123T|ZNF773_ENST00000599847.1_Intron|ZNF773_ENST00000593916.1_Intron NM_198542.1 NP_940944.1 Q6PK81 ZN773_HUMAN zinc finger protein 773 124 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 22 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254) TGGAGAGAAACCCTTAAAAAG 0.517000 9 28 1.12685e-05 1.41642e-05 1 1 0 FCRL2 79368 broad.mit.edu 37 1 157739773 157739773 + Missense_Mutation SNP G G A rs148305794 byFrequency TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr1:157739773G>A ENST00000361516.3 - 4 526 c.478C>T c.(478-480)Ccg>Tcg p.P160S FCRL2_ENST00000392274.3_Missense_Mutation_p.P160S|FCRL2_ENST00000368181.4_Intron NM_030764.3 NP_110391.2 Q96LA5 FCRL2_HUMAN Fc receptor-like 2 160 Ig-like C2-type 2. cell-cell signaling integral to membrane|plasma membrane|soluble fraction receptor activity|SH3/SH2 adaptor activity central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|skin(2) 51 all_hematologic(112;0.0378) LUSC - Lung squamous cell carcinoma(543;0.24) TGGAGCTCCGGAGAGCTGCTC 0.537000 6 44 0 0 1 0 0 SNAPC1 6617 broad.mit.edu 37 14 62229256 62229256 + Silent SNP C C T TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr14:62229256C>T ENST00000216294.4 + 1 182 c.78C>T c.(76-78)ttC>ttT p.F26F RP11-618G20.1_ENST00000555937.1_RNA NM_003082.3 NP_003073.1 Q16533 SNPC1_HUMAN small nuclear RNA activating complex, polypeptide 1, 43kDa 26 SNAPC3-binding. regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter nucleoplasm DNA binding endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1) 13 OV - Ovarian serous cystadenocarcinoma(108;0.0639)|BRCA - Breast invasive adenocarcinoma(234;0.186) GTGTACGCTTCGAGGACTTCA 0.632000 6 60 0 0 1 0 0 FREM2 341640 broad.mit.edu 37 13 39266035 39266035 + Silent SNP C C G TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr13:39266035C>G ENST00000280481.7 + 1 4770 c.4554C>G c.(4552-4554)gtC>gtG p.V1518V NM_207361.4 NP_997244.3 Q5SZK8 FREM2_HUMAN FRAS1 related extracellular matrix protein 2 1518 cell communication|homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2) 148 Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114) all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312) GTAACCCTGTCTTTCGGACAT 0.433000 6 90 0 0 1 0 0 OR4C16 219428 broad.mit.edu 37 11 55339669 55339669 + Missense_Mutation SNP G G C TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr11:55339669G>C ENST00000314634.3 + 1 66 c.66G>C c.(64-66)aaG>aaC p.K22N NM_001004701.2 NP_001004701.2 Q8NGL9 OR4CG_HUMAN olfactory receptor, family 4, subfamily C, member 16 (gene/pseudogene) 22 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(28)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 41 all_epithelial(135;0.0748) CTTTTTGGAAGAAAATAGTGT 0.398000 5 55 0 0 1 0 0 LRRC3B 116135 broad.mit.edu 37 3 26751267 26751267 + Missense_Mutation SNP C C A TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr3:26751267C>A ENST00000396641.2 + 2 696 c.104C>A c.(103-105)cCc>cAc p.P35H LRRC3B_ENST00000456208.2_Missense_Mutation_p.P35H|LRRC3B_ENST00000417744.1_Missense_Mutation_p.P35H NM_052953.2 NP_443185.1 Q96PB8 LRC3B_HUMAN leucine rich repeat containing 3B 35 LRRNT. integral to membrane breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|skin(4) 21 AGTATGTGTCCCAAGGGCTGT 0.438000 4 43 1 1 1 1 0 NXF5 55998 broad.mit.edu 37 X 101091708 101091708 + Missense_Mutation SNP G G T TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chrX:101091708G>T ENST00000361708.2 - 16 1537 c.1178C>A c.(1177-1179)cCa>cAa p.P393Q NXF5_ENST00000473265.2_Intron|NXF5_ENST00000537026.1_Intron Q9H1B4 NXF5_HUMAN nuclear RNA export factor 5 393 mRNA export from nucleus|multicellular organismal development actin cytoskeleton|cytoplasm|nucleus nucleocytoplasmic transporter activity|nucleotide binding|protein binding|RNA binding breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|skin(1) 30 GCACTAACCTGGAATTGCGGC 0.522000 4 62 1.23904e-05 1.53602e-05 1 1 0 ZDHHC9 51114 broad.mit.edu 37 X 128946732 128946732 + Missense_Mutation SNP T T C TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chrX:128946732T>C ENST00000357166.6 - 8 1130 c.739A>G c.(739-741)Act>Gct p.T247A ZDHHC9_ENST00000371064.3_Missense_Mutation_p.T247A NM_016032.3 NP_057116.2 Q9Y397 ZDHC9_HUMAN zinc finger, DHHC-type containing 9 247 endoplasmic reticulum membrane|Golgi membrane|integral to membrane acyltransferase activity|zinc ion binding breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1) 19 ACGAGGAAAGTATGAAATCCA 0.448000 17 85 0 0 1 0 0 GNG3 2785 broad.mit.edu 37 11 62476275 62476275 + Silent SNP C C G TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr11:62476275C>G ENST00000294117.5 + 3 484 c.225C>G c.(223-225)ctC>ctG p.L75L HNRNPUL2-BSCL2_ENST00000403734.2_Intron|BSCL2_ENST00000405837.1_Intron|BSCL2_ENST00000433053.1_Intron NM_012202.4 NP_036334.1 P63215 GBG3_HUMAN guanine nucleotide binding protein (G protein), gamma 3 75 activation of MAPK activity|cellular response to glucagon stimulus|energy reserve metabolic process|synaptic transmission GTPase activity|signal transducer activity kidney(1)|large_intestine(1)|lung(2)|urinary_tract(1) 5 GTGCTCTCCTCTGAGCTCCCC 0.567000 8 60 0 0 1 0 0 CSMD3 114788 broad.mit.edu 37 8 113585870 113585870 + Missense_Mutation SNP T T A TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr8:113585870T>A ENST00000297405.5 - 24 4146 c.3902A>T c.(3901-3903)gAt>gTt p.D1301V CSMD3_ENST00000455883.2_Missense_Mutation_p.D1197V|CSMD3_ENST00000343508.3_Missense_Mutation_p.D1261V|CSMD3_ENST00000352409.3_Missense_Mutation_p.D1301V NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 1301 CUB 7. integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 AGTCGTTTTATCTTTTCCATC 0.313000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 5 43 0 0 1 0 0 MED24 9862 broad.mit.edu 37 17 38209884 38209884 + Missense_Mutation SNP G G T TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr17:38209884G>T ENST00000394126.1 - 1 461 c.43C>A c.(43-45)Ccg>Acg p.P15T MED24_ENST00000394127.2_5'UTR|MED24_ENST00000479829.1_5'UTR|MED24_ENST00000356271.3_5'UTR|MED24_ENST00000394128.2_5'UTR O75448 MED24_HUMAN mediator complex subunit 24 0 androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 41 Colorectal(19;0.000442) AGCGGTGGCGGCCAGCTTTGA 0.493000 9 51 1.12685e-05 1.41642e-05 1 1 0 PSAT1 29968 broad.mit.edu 37 9 80943903 80943903 + Silent SNP G G T TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr9:80943903G>T ENST00000376588.3 + 9 1082 c.1014G>T c.(1012-1014)gtG>gtT p.V338V PSAT1_ENST00000347159.2_Silent_p.V292V NM_058179.2 NP_478059.1 Q9Y617 SERC_HUMAN phosphoserine aminotransferase 1 338 L-serine biosynthetic process|pyridoxine biosynthetic process O-phospho-L-serine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding p.V338V(1) breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|urinary_tract(1) 20 L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165) CTAGGTCTGTGGGAGGCATCC 0.453000 4 57 0.00024832 0.000293427 1 1 0 FIG4 9896 broad.mit.edu 37 6 110053865 110053865 + Missense_Mutation SNP G G T TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr6:110053865G>T ENST00000230124.3 + 5 596 c.472G>T c.(472-474)Gac>Tac p.D158Y FIG4_ENST00000441478.2_Missense_Mutation_p.D12Y|FIG4_ENST00000368941.1_Missense_Mutation_p.D81Y NM_014845.5 NP_055660.1 Q92562 FIG4_HUMAN FIG4 homolog, SAC1 lipid phosphatase domain containing (S. cerevisiae) 158 SAC. cell death endosome membrane protein binding central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2) 32 all_cancers(87;8.63e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000124)|all_lung(197;0.0187)|Colorectal(196;0.0492)|Lung SC(18;0.0548) OV - Ovarian serous cystadenocarcinoma(136;0.0355)|Epithelial(106;0.038)|all cancers(137;0.0425)|BRCA - Breast invasive adenocarcinoma(108;0.079) TCAAAATGTGGACCTATCTAG 0.294000 5 34 3.59834e-05 4.42602e-05 1 1 0 ZAK 51776 broad.mit.edu 37 2 174062798 174062798 + Missense_Mutation SNP G G T TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr2:174062798G>T ENST00000338983.3 + 8 822 c.627G>T c.(625-627)ttG>ttT p.L209F MLTK_ENST00000431503.2_Missense_Mutation_p.L108F|MLTK_ENST00000539448.1_Missense_Mutation_p.L209F|MLTK_ENST00000375213.3_Missense_Mutation_p.L209F|MLK7-AS1_ENST00000422703.1_RNA|MLK7-AS1_ENST00000419609.1_RNA|MLK7-AS1_ENST00000423106.2_RNA|MLTK_ENST00000409176.2_Missense_Mutation_p.L209F NM_133646.2 NP_598407.1 TTAAAGGTTTGGAAGGATTAC 0.368000 15 59 0.146539 0.152333 1 1 0 SPRYD3 84926 broad.mit.edu 37 12 53471027 53471027 + Silent SNP C C T TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr12:53471027C>T ENST00000301463.4 - 2 128 c.42G>A c.(40-42)aaG>aaA p.K14K SPRYD3_ENST00000547837.1_Silent_p.K51K NM_032840.2 NP_116229.1 Q8NCJ5 SPRY3_HUMAN SPRY domain containing 3 14 central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 17 GGTCATCCATCTTGTTCATGA 0.537000 3 35 0 0 1 0 0 CFAP221 200373 broad.mit.edu 37 2 120413966 120413966 + Missense_Mutation SNP G G C TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr2:120413966G>C ENST00000602047.1 + 25 2697 c.1585G>C c.(1585-1587)Gag>Cag p.E529Q PCDP1_ENST00000413369.3_Missense_Mutation_p.E815Q Q4G0U5 PCDP1_HUMAN 815 cilium calmodulin binding Colorectal(110;0.196) ACAACCAGCAGAGAAGGCCGG 0.488000 4 16 0 0 1 0 0 NTNG1 22854 broad.mit.edu 37 1 107867484 107867484 + Missense_Mutation SNP T T C TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr1:107867484T>C ENST00000370067.1 + 3 1454 c.827T>C c.(826-828)gTa>gCa p.V276A NTNG1_ENST00000370068.1_Missense_Mutation_p.V276A|NTNG1_ENST00000370070.2_Missense_Mutation_p.V276A|NTNG1_ENST00000370066.1_Missense_Mutation_p.V276A|NTNG1_ENST00000370071.2_Missense_Mutation_p.V276A|NTNG1_ENST00000370072.3_Missense_Mutation_p.V276A|NTNG1_ENST00000370061.3_Missense_Mutation_p.V276A|NTNG1_ENST00000477948.1_3'UTR|NTNG1_ENST00000370065.1_Missense_Mutation_p.V276A|NTNG1_ENST00000370073.2_Missense_Mutation_p.V276A|NTNG1_ENST00000370074.4_Missense_Mutation_p.V276A|NTNG1_ENST00000542803.1_Missense_Mutation_p.V276A Q9Y2I2 NTNG1_HUMAN netrin G1 276 Laminin N-terminal. axonogenesis anchored to plasma membrane protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1) 37 all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243) Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245) GAAATATTTGTAGATGAGCTA 0.463000 12 51 0 0 1 0 0 HAO1 54363 broad.mit.edu 37 20 7886851 7886851 + Missense_Mutation SNP C C A TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr20:7886851C>A ENST00000378789.3 - 4 722 c.671G>T c.(670-672)tGg>tTg p.W224L NM_017545.2 NP_060015.1 Q9UJM8 HAOX1_HUMAN hydroxyacid oxidase (glycolate oxidase) 1 224 FMN hydroxy acid dehydrogenase. cellular nitrogen compound metabolic process|fatty acid alpha-oxidation|glycolate catabolic process|glyoxylate metabolic process peroxisomal matrix FMN binding|glycolate oxidase activity|glyoxylate oxidase activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 36 TCTTCTCAGCCATTTGATATC 0.398000 16 107 1.15919e-05 1.45128e-05 1 1 0 CYB5D1 124637 broad.mit.edu 37 17 7762002 7762002 + Nonsense_Mutation SNP C C T TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr17:7762002C>T ENST00000332439.4 + 3 468 c.316C>T c.(316-318)Cag>Tag p.Q106* LSMD1_ENST00000570555.1_5'UTR|LSMD1_ENST00000576861.1_Intron|CYB5D1_ENST00000571846.1_Nonsense_Mutation_p.Q106*|CYB5D1_ENST00000570446.1_Intron NM_144607.4 NP_653208.2 Q6P9G0 CB5D1_HUMAN cytochrome b5 domain containing 1 106 heme binding p.Q106*(1) breast(1)|endometrium(1)|large_intestine(2)|skin(2) 6 all_cancers(10;0.11)|Prostate(122;0.219) CGTTCCGCCTCAGCTGCCCTG 0.632000 OREG0024147 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 45 0 0 1 0 0 HIST2H2BE 8349 broad.mit.edu 37 1 149857969 149857969 + Silent SNP G G A TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr1:149857969G>A ENST00000369155.2 - 1 263 c.222C>T c.(220-222)atC>atT p.I74I NM_003528.2 NP_003519.1 Q16778 H2B2E_HUMAN histone cluster 2, H2be 74 defense response to bacterium|nucleosome assembly nucleosome|nucleus DNA binding|protein binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1) 14 Breast(34;0.0124)|all_hematologic(923;0.127) STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221) CCTCTCCCGCGATGCGCTCGA 0.637000 6 129 0 0 1 0 0 CCKAR 886 broad.mit.edu 37 4 26483765 26483765 + Missense_Mutation SNP C C T TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr4:26483765C>T ENST00000295589.3 - 5 976 c.782G>A c.(781-783)gGc>gAc p.G261D NM_000730.2 NP_000721.1 P32238 CCKAR_HUMAN cholecystokinin A receptor 261 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration|response to nutrient integral to plasma membrane cholecystokinin receptor activity NS(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|pancreas(1)|skin(1) 29 Breast(46;0.0503) Ceruletide(DB00403) CTCATATTTGCCGCTGCTGGT 0.612000 3 53 0 0 1 0 0 OR5AK2 390181 broad.mit.edu 37 11 56756999 56756999 + Missense_Mutation SNP G G T TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr11:56756999G>T ENST00000326855.2 + 1 653 c.611G>T c.(610-612)gGa>gTa p.G204V NM_001005323.1 NP_001005323.1 Q8NH90 O5AK2_HUMAN olfactory receptor, family 5, subfamily AK, member 2 204 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(3)|endometrium(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 21 GTCTTTGTGGGATCTAACTTG 0.408000 31 96 1.39806e-14 1.96038e-14 1 1 0 SLC24A5 283652 broad.mit.edu 37 15 48426535 48426535 + Silent SNP C C T TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr15:48426535C>T ENST00000341459.3 + 3 455 c.382C>T c.(382-384)Cta>Tta p.L128L SLC24A5_ENST00000449382.2_Silent_p.L68L NM_205850.2 NP_995322.1 Q71RS6 NCKX5_HUMAN solute carrier family 24 (sodium/potassium/calcium exchanger), member 5 128 response to stimulus integral to membrane|melanosome|plasma membrane calcium, potassium:sodium antiporter activity|symporter activity p.L128L(1) 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) TACTGCTTTCCTAGGTAAATA 0.393000 3 67 0 0 1 0 0 CCDC3 83643 broad.mit.edu 37 10 13040395 13040395 + Silent SNP C C A TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr10:13040395C>A ENST00000378839.1 - 6 1069 c.117G>T c.(115-117)tcG>tcT p.S39S CCDC3_ENST00000378825.3_Silent_p.S164S NM_001282658.1 NP_001269587.1 Q9BQI4 CCDC3_HUMAN coiled-coil domain containing 3 164 endoplasmic reticulum|extracellular region central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|prostate(2) 11 Ovarian(717;0.0822) BRCA - Breast invasive adenocarcinoma(52;0.163) GCTGCCCTTGCGAACAGTTTG 0.463000 8 53 1.12685e-05 1.41642e-05 1 1 0 GHSR 2693 broad.mit.edu 37 3 172165995 172165995 + Missense_Mutation SNP C C A TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr3:172165995C>A ENST00000241256.2 - 1 251 c.209G>T c.(208-210)cGc>cTc p.R70L GHSR_ENST00000427970.1_Missense_Mutation_p.R70L NM_198407.2 NP_940799.1 Q92847 GHSR_HUMAN growth hormone secretagogue receptor 70 actin polymerization or depolymerization|adult feeding behavior|decidualization|growth hormone secretion|hormone-mediated signaling pathway|negative regulation of inflammatory response|negative regulation of interleukin-1 beta production|negative regulation of interleukin-6 biosynthetic process|negative regulation of tumor necrosis factor biosynthetic process|positive regulation of appetite|positive regulation of multicellular organism growth cell surface|integral to membrane|membrane raft|neuron projection|plasma membrane growth hormone secretagogue receptor activity|growth hormone-releasing hormone receptor activity biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1) 33 Ovarian(172;0.00143)|Breast(254;0.197) Lung(28;3.93e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235) CTCGCGGAAGCGCGACACCAC 0.657000 5 28 1.23904e-05 1.53602e-05 1 1 0 DNAJC6 9829 broad.mit.edu 37 1 65874363 65874363 + Missense_Mutation SNP C C G TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr1:65874363C>G ENST00000395325.3 + 17 2517 c.2360C>G c.(2359-2361)tCt>tGt p.S787C DNAJC6_ENST00000263441.7_Missense_Mutation_p.S774C|DNAJC6_ENST00000371069.4_Missense_Mutation_p.S844C NM_014787.3 NP_055602.1 O75061 AUXI_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 6 787 cellular membrane organization|post-Golgi vesicle-mediated transport cytosol heat shock protein binding|protein tyrosine phosphatase activity|SH3 domain binding NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(22)|ovary(1)|prostate(2)|skin(1) 39 GACCTACTCTCTGGTCAAGGT 0.368000 6 74 0 0 1 0 0 PLCL1 5334 broad.mit.edu 37 2 198948823 198948823 + Missense_Mutation SNP C C A TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr2:198948823C>A ENST00000428675.1 + 2 980 c.582C>A c.(580-582)caC>caA p.H194Q PLCL1_ENST00000437704.2_Missense_Mutation_p.H96Q NM_006226.3 NP_006217.3 Q15111 PLCL1_HUMAN phospholipase C-like 1 194 Interaction with PPP1C.|PH. intracellular signal transduction|lipid metabolic process cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 80 Quinacrine(DB01103) CCATACTCCACGGGGAAAACT 0.478000 13 55 1.61879e-10 2.23514e-10 1 1 0 STXBP6 29091 broad.mit.edu 37 14 25443936 25443936 + Missense_Mutation SNP T T A TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr14:25443936T>A ENST00000323944.5 - 2 540 c.89A>T c.(88-90)aAg>aTg p.K30M STXBP6_ENST00000358326.2_Missense_Mutation_p.K30M|STXBP6_ENST00000548724.1_Missense_Mutation_p.K30M|STXBP6_ENST00000419632.2_Missense_Mutation_p.K30M|STXBP6_ENST00000550887.1_Missense_Mutation_p.K30M|STXBP6_ENST00000396700.1_Missense_Mutation_p.K30M|STXBP6_ENST00000546511.1_Missense_Mutation_p.K30M Q8NFX7 STXB6_HUMAN syntaxin binding protein 6 (amisyn) 30 vesicle-mediated transport cytoplasm|integral to membrane central_nervous_system(2)|endometrium(2)|large_intestine(3) 7 GBM - Glioblastoma multiforme(265;0.0296) AATCTTTTTCTTTGTCCTCCT 0.378000 3 17 0 0 1 0 0 LMLN 89782 broad.mit.edu 37 3 197707267 197707267 + Nonsense_Mutation SNP C C G TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr3:197707267C>G ENST00000330198.4 + 6 642 c.620C>G c.(619-621)tCa>tGa p.S207* LMLN_ENST00000332636.5_Nonsense_Mutation_p.S155*|LMLN_ENST00000420910.2_Nonsense_Mutation_p.S207*|LMLN_ENST00000482695.1_Nonsense_Mutation_p.S155* NM_033029.3 NP_149018.2 Q96KR4 LMLN_HUMAN leishmanolysin-like (metallopeptidase M8 family) 207 cell adhesion|cell division|mitosis|proteolysis cytoplasm|membrane metalloendopeptidase activity|zinc ion binding endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 25 all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976) Lung NSC(153;0.132) Epithelial(36;9.84e-24)|all cancers(36;3.18e-22)|OV - Ovarian serous cystadenocarcinoma(49;5.35e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07) GBM - Glioblastoma multiforme(93;0.111) GAAGGCATCTCAGATGCAGAC 0.537000 7 79 0 0 1 0 0 ARHGEF40 55701 broad.mit.edu 37 14 21543089 21543089 + Silent SNP G G T TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr14:21543089G>T ENST00000298694.4 + 3 1327 c.1200G>T c.(1198-1200)ctG>ctT p.L400L ARHGEF40_ENST00000298693.3_Silent_p.L400L Q8TER5 ARH40_HUMAN Rho guanine nucleotide exchange factor (GEF) 40 400 regulation of Rho protein signal transduction cytoplasm Rho guanyl-nucleotide exchange factor activity large_intestine(4)|ovary(3)|upper_aerodigestive_tract(2) 9 GTGCCCCACTGAGCCCTGGGG 0.587000 5 38 1 1 1 1 0 ABCC11 85320 broad.mit.edu 37 16 48221148 48221148 + Missense_Mutation SNP C C G TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr16:48221148C>G ENST00000394747.1 - 20 3246 c.2897G>C c.(2896-2898)gGa>gCa p.G966A ABCC11_ENST00000353782.5_Missense_Mutation_p.G966A|ABCC11_ENST00000537808.1_3'UTR|ABCC11_ENST00000394748.1_Missense_Mutation_p.G966A|ABCC11_ENST00000565329.1_5'UTR|ABCC11_ENST00000356608.2_Missense_Mutation_p.G966A NM_033151.3 NP_149163.2 Q96J66 ABCCB_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 11 966 ABC transmembrane type-1 2. integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2) 83 all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166) GATTATGGCTCCCATTAACAG 0.453000 7 61 0 0 1 0 0 EML5 161436 broad.mit.edu 37 14 89123766 89123766 + Nonsense_Mutation SNP C C A TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr14:89123766C>A ENST00000554922.1 - 27 4206 c.3958G>T c.(3958-3960)Gga>Tga p.G1320* EML5_ENST00000380664.5_Nonsense_Mutation_p.G1320*|EML5_ENST00000352093.5_Nonsense_Mutation_p.G1282* NM_183387.2 NP_899243.1 Q05BV3 EMAL5_HUMAN echinoderm microtubule associated protein like 5 1320 cytoplasm|microtubule breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 50 GGCTTGATTCCTAACATTGGG 0.318000 5 33 0.014758 0.0160005 1 1 0 COL17A1 1308 broad.mit.edu 37 10 105792002 105792002 + Silent SNP G G C TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr10:105792002G>C ENST00000353479.5 - 56 4775 c.4485C>G c.(4483-4485)gtC>gtG p.V1495V COL17A1_ENST00000369733.3_Silent_p.V1413V NM_000494.3 NP_000485.3 Q9UMD9 COHA1_HUMAN collagen, type XVII, alpha 1 1495 Nonhelical region (NC1). cell-matrix adhesion|epidermis development|hemidesmosome assembly basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane protein binding NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1) 62 Colorectal(252;0.103)|Breast(234;0.122) Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165) CTCACGGCTTGACAGCAATAC 0.507000 6 26 0 0 1 0 0 MAN2A1 4124 broad.mit.edu 37 5 109106220 109106220 + Missense_Mutation SNP C C T TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr5:109106220C>T ENST00000261483.4 + 7 2226 c.1174C>T c.(1174-1176)Cat>Tat p.H392Y NM_002372.2 NP_002363.2 Q16706 MA2A1_HUMAN mannosidase, alpha, class 2A, member 1 392 mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding breast(2)|central_nervous_system(2)|endometrium(7)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 55 all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244) OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141) AGAAACAATACATCCTGGAAA 0.433000 8 34 0 0 1 0 0 NAT8 9027 broad.mit.edu 37 2 73868184 73868184 + Missense_Mutation SNP A A G TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr2:73868184A>G ENST00000272425.3 - 2 721 c.572T>C c.(571-573)aTg>aCg p.M191T NM_003960.3|NM_016347.2 NP_003951.3|NP_057431.2 Q9UHE5 NAT8_HUMAN N-acetyltransferase 8 (GCN5-related, putative) 191 N-acetyltransferase. gastrulation with mouth forming second|response to drug integral to membrane N-acetyltransferase activity breast(1)|endometrium(2)|kidney(2)|lung(2)|ovary(1)|prostate(1) 9 CTTGAAGCCCATGCTCTGGTA 0.547000 6 20 0 0 1 0 0 ANKS1B 56899 broad.mit.edu 37 12 99837571 99837571 + Silent SNP T T A TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr12:99837571T>A ENST00000547776.2 - 11 1454 c.1455A>T c.(1453-1455)gtA>gtT p.V485V ANKS1B_ENST00000547010.1_Silent_p.V65V|ANKS1B_ENST00000329257.7_Silent_p.V485V NM_152788.4 NP_690001.3 Q7Z6G8 ANS1B_HUMAN ankyrin repeat and sterile alpha motif domain containing 1B 485 Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1) 70 all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209) OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06) TAGTAACTGCTACCTCAGAGG 0.383000 16 55 0 0 1 0 0 C6orf118 168090 broad.mit.edu 37 6 165713893 165713893 + Missense_Mutation SNP T T C TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr6:165713893T>C ENST00000543069.1 - 3 1105 c.524A>G c.(523-525)aAc>aGc p.N175S C6orf118_ENST00000230301.8_Missense_Mutation_p.N279S Q5T5N4 CF118_HUMAN chromosome 6 open reading frame 118 279 breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 40 Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157) OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313) CAAAGAACTGTTACAAATATC 0.398000 25 97 0 0 1 0 0 KAT6A 7994 broad.mit.edu 37 8 41798546 41798546 + Silent SNP G G C TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr8:41798546G>C ENST00000396930.3 - 16 3396 c.2853C>G c.(2851-2853)ctC>ctG p.L951L KAT6A_ENST00000265713.2_Silent_p.L951L|KAT6A_ENST00000406337.1_Silent_p.L951L NM_001099412.1 NP_001092882.1 Q92794 MYST3_HUMAN K(lysine) acetyltransferase 6A 951 histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent MOZ/MORF histone acetyltransferase complex|nucleosome DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding GGCTTTTCTTGAGCTGTCCTC 0.582000 8 116 0 0 1 0 0 LILRB1 10859 broad.mit.edu 37 19 55144176 55144176 + Nonsense_Mutation SNP C C A TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr19:55144176C>A ENST00000396331.1 + 7 1280 c.923C>A c.(922-924)tCg>tAg p.S308* LILRB1_ENST00000396321.2_Nonsense_Mutation_p.S308*|LILRB1_ENST00000396315.1_Nonsense_Mutation_p.S308*|LILRB1_ENST00000396317.1_Nonsense_Mutation_p.S308*|LILRB1_ENST00000396332.4_Nonsense_Mutation_p.S308*|LILRB1_ENST00000434867.2_Nonsense_Mutation_p.S308*|LILRB1_ENST00000427581.2_Nonsense_Mutation_p.S344*|LILRB1_ENST00000418536.2_Nonsense_Mutation_p.S308*|LILRB1_ENST00000324602.7_Nonsense_Mutation_p.S308*|LILRB1_ENST00000448689.1_Nonsense_Mutation_p.S308*|LILRB1_ENST00000396327.3_Nonsense_Mutation_p.S308* NM_006669.3 NP_006660.3 Q8NHL6 LIRB1_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1 308 Ig-like C2-type 3. regulation of immune response|response to virus integral to membrane|plasma membrane protein phosphatase 1 binding|receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 74 GBM - Glioblastoma multiforme(193;0.0188) TCCGAGTGGTCGGCCCCCAGC 0.687000 HNSCC(37;0.09) 10 30 1.58986e-06 2.05575e-06 1 1 0 HEPH 9843 broad.mit.edu 37 X 65480069 65480069 + Missense_Mutation SNP G G T TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chrX:65480069G>T ENST00000519389.1 + 19 3505 c.3326G>T c.(3325-3327)gGc>gTc p.G1109V HEPH_ENST00000374727.3_Missense_Mutation_p.G1058V|HEPH_ENST00000336279.5_Missense_Mutation_p.G788V|HEPH_ENST00000419594.1_Missense_Mutation_p.G866V|HEPH_ENST00000343002.2_Missense_Mutation_p.G1055V|HEPH_ENST00000441993.2_Missense_Mutation_p.G1058V Q9BQS7 HEPH_HUMAN hephaestin 1055 cellular iron ion homeostasis|copper ion transport|transmembrane transport integral to membrane|plasma membrane copper ion binding|oxidoreductase activity endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 89 GTCCATGCTGGCATGGAGACC 0.488000 3 41 1 1 1 1 0 MYOT 9499 broad.mit.edu 37 5 137219226 137219226 + Missense_Mutation SNP G G A TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr5:137219226G>A ENST00000239926.4 + 7 1344 c.970G>A c.(970-972)Gtt>Att p.V324I MYOT_ENST00000509812.1_Intron|RP11-381K20.2_ENST00000514616.1_RNA|MYOT_ENST00000421631.2_Missense_Mutation_p.V140I|RP11-381K20.2_ENST00000508281.2_RNA|MYOT_ENST00000515645.1_Missense_Mutation_p.V209I NM_006790.2 NP_006781 Q9UBF9 MYOTI_HUMAN myotilin 324 Ig-like C2-type 1.|Necessary for interaction with ACTA1.|Necessary for interaction with FLNC. muscle contraction actin cytoskeleton|sarcolemma|sarcomere actin binding|structural constituent of muscle cervix(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1) 23 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109) TTATGCATGTGTTGCCAAGAA 0.443000 8 39 0 0 1 0 0 GRID2 2895 broad.mit.edu 37 4 94690421 94690421 + Missense_Mutation SNP G G C TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr4:94690421G>C ENST00000282020.4 + 15 2679 c.2421G>C c.(2419-2421)aaG>aaC p.K807N GRID2_ENST00000510992.1_Missense_Mutation_p.K712N NM_001510.2 NP_001501.2 O43424 GRID2_HUMAN glutamate receptor, ionotropic, delta 2 807 glutamate signaling pathway cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 Hepatocellular(203;0.114)|all_hematologic(202;0.177) OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191) L-Glutamic Acid(DB00142) GGTGGCCTAAGAATGGCCAGT 0.483000 7 40 0 0 1 0 0 ATP11B 23200 broad.mit.edu 37 3 182547496 182547496 + Nonsense_Mutation SNP G G T TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr3:182547496G>T ENST00000323116.5 + 4 531 c.271G>T c.(271-273)Gga>Tga p.G91* ATP11B_ENST00000493826.1_Nonsense_Mutation_p.G91* NM_014616.2 NP_055431.1 Q9Y2G3 AT11B_HUMAN ATPase, class VI, type 11B 91 aminophospholipid transport|ATP biosynthetic process integral to membrane|nuclear inner membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity breast(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1) 41 all_cancers(143;9.04e-15)|Ovarian(172;0.0355) all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20) AGTTACCAGTGGACTTCCATT 0.289000 7 56 5.4927e-09 7.45354e-09 1 1 0 HLF 3131 broad.mit.edu 37 17 53345295 53345295 + Missense_Mutation SNP G G T TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr17:53345295G>T ENST00000226067.5 + 2 772 c.299G>T c.(298-300)aGc>aTc p.S100I HLF_ENST00000430986.2_Missense_Mutation_p.S15I|HLF_ENST00000573945.1_Missense_Mutation_p.S15I|HLF_ENST00000575345.1_Missense_Mutation_p.S15I NM_002126.4 NP_002117.1 Q16534 HLF_HUMAN hepatic leukemia factor 100 multicellular organismal development|rhythmic process|transcription from RNA polymerase II promoter nucleus double-stranded DNA binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity large_intestine(1)|ovary(2) 3 ATTCCCCCCAGCCCATCTCAG 0.582000 T TCF3 ALL 13 75 9.31168e-06 1.17985e-05 1 1 0 LRRC31 79782 broad.mit.edu 37 3 169587498 169587498 + Missense_Mutation SNP C C A TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr3:169587498C>A ENST00000316428.5 - 1 155 c.98G>T c.(97-99)aGa>aTa p.R33I LRRC31_ENST00000523069.1_Missense_Mutation_p.R33I|LRRC31_ENST00000397805.2_5'UTR|LRRC31_ENST00000264676.5_Missense_Mutation_p.R33I NM_001277127.1|NM_024727.2 NP_001264056.1|NP_079003.2 Q6UY01 LRC31_HUMAN leucine rich repeat containing 31 33 cervix(3)|endometrium(3)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 31 all_cancers(22;2.76e-22)|all_epithelial(15;4.73e-27)|all_lung(20;9.24e-17)|Lung NSC(18;3.85e-16)|Ovarian(172;0.000223)|Breast(254;0.197) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00943) GTCCTCTTTTCTGCTTTCAGC 0.468000 3 43 0.004672 0.00517199 1 1 0 NCKAP5L 57701 broad.mit.edu 37 12 50191061 50191061 + Silent SNP C C G TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr12:50191061C>G ENST00000335999.6 - 8 783 c.582G>C c.(580-582)ctG>ctC p.L194L NM_001037806.3 NP_001032895.2 Q9HCH0 NCK5L_HUMAN NCK-associated protein 5-like 190 Pro-rich. central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(8)|prostate(2) 18 CCAGGGCTCTCAGCACCTCCA 0.692000 4 15 0 0 1 0 0 WDR20 91833 broad.mit.edu 37 14 102675932 102675932 + Silent SNP G G A TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr14:102675932G>A ENST00000335263.5 + 3 1505 c.1425G>A c.(1423-1425)gaG>gaA p.E475E WDR20_ENST00000545563.1_Silent_p.E302E|WDR20_ENST00000556511.2_Silent_p.E414E|WDR20_ENST00000342702.3_Silent_p.E475E|WDR20_ENST00000424963.2_Silent_p.E351E|WDR20_ENST00000499851.2_Silent_p.E218E|WDR20_ENST00000322340.5_Intron|WDR20_ENST00000454394.2_Silent_p.E506E|WDR20_ENST00000556807.1_Silent_p.E414E|WDR20_ENST00000299135.6_3'UTR NM_181291.2 NP_851808.1 Q8TBZ3 WDR20_HUMAN WD repeat domain 20 475 breast(1)|large_intestine(2)|lung(4)|prostate(1) 8 GGCACCACGAGAAAGATCACA 0.473000 OREG0022939 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 62 0 0 1 0 0 THSD7B 80731 broad.mit.edu 37 2 137814362 137814362 + Missense_Mutation SNP C C A TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr2:137814362C>A ENST00000409968.1 + 3 690 c.512C>A c.(511-513)gCt>gAt p.A171D THSD7B_ENST00000272643.3_Missense_Mutation_p.A171D|THSD7B_ENST00000413152.2_Missense_Mutation_p.A140D|THSD7B_ENST00000543459.1_Missense_Mutation_p.A30D thrombospondin, type I, domain containing 7B NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 134 BRCA - Breast invasive adenocarcinoma(221;0.19) ACAGAACAGGCTTGCCTCATT 0.502000 33 156 1.04352e-10 1.44716e-10 1 1 0 RRM1 6240 broad.mit.edu 37 11 4142986 4142986 + Missense_Mutation SNP G G C TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr11:4142986G>C ENST00000300738.5 + 10 1233 c.1029G>C c.(1027-1029)gaG>gaC p.E343D RRM1_ENST00000528470.1_3'UTR|RRM1_ENST00000537197.1_Missense_Mutation_p.E5D|RRM1_ENST00000423050.2_Missense_Mutation_p.E246D|RRM1_ENST00000534285.1_Missense_Mutation_p.E121D NM_001033.3 NP_001024.1 P23921 RIR1_HUMAN ribonucleotide reductase M1 343 deoxyribonucleotide biosynthetic process|DNA replication|nucleobase, nucleoside and nucleotide interconversion cytosol|nucleoplasm|ribonucleoside-diphosphate reductase complex ATP binding|ribonucleoside-diphosphate reductase activity breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|skin(2) 14 Medulloblastoma(188;0.0025)|Breast(177;0.00502)|all_neural(188;0.0227) BRCA - Breast invasive adenocarcinoma(625;0.0848)|LUSC - Lung squamous cell carcinoma(625;0.205) Clofarabine(DB00631)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Hydroxyurea(DB01005) AACGAGTGGAGACTAATCAGG 0.403000 7 73 0 0 1 0 0 OR4Q3 441669 broad.mit.edu 37 14 20216220 20216220 + Missense_Mutation SNP T T A TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr14:20216220T>A ENST00000331723.1 + 1 634 c.634T>A c.(634-636)Ttc>Atc p.F212I NM_172194.1 NP_751944.1 Q8NH05 OR4Q3_HUMAN olfactory receptor, family 4, subfamily Q, member 3 212 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2) 47 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) TCTTGTCTGCTTCTTGGTCTT 0.498000 8 31 0 0 1 0 0 SLC6A2 6530 broad.mit.edu 37 16 55719100 55719100 + Silent SNP C C T TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr16:55719100C>T ENST00000379906.2 + 4 945 c.690C>T c.(688-690)atC>atT p.I230I SLC6A2_ENST00000219833.8_Silent_p.I230I|SLC6A2_ENST00000568943.1_Silent_p.I230I|SLC6A2_ENST00000566163.1_Silent_p.I230I|SLC6A2_ENST00000561820.1_Silent_p.I230I|SLC6A2_ENST00000567238.1_Silent_p.I125I|SLC6A2_ENST00000414754.3_Silent_p.I230I NM_001043.3 NP_001034.1 P23975 SC6A2_HUMAN solute carrier family 6 (neurotransmitter transporter), member 2 230 synaptic transmission integral to plasma membrane|membrane fraction norepinephrine:sodium symporter activity breast(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(3)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(1) 41 BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267) Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Atomoxetine(DB00289)|Bethanidine(DB00217)|Bupropion(DB01156)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Diethylpropion(DB00937)|Doxepin(DB01142)|Duloxetine(DB00476)|Ergotamine(DB00696)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Maprotiline(DB00934)|Mazindol(DB00579)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285) TTCATGACATCGGCCTGCCCC 0.562000 6 34 0 0 1 0 0 STK11IP 114790 broad.mit.edu 37 2 220471806 220471806 + Missense_Mutation SNP C C G TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr2:220471806C>G ENST00000456909.1 + 13 1256 c.1166C>G c.(1165-1167)tCt>tGt p.S389C STK11IP_ENST00000295641.10_Missense_Mutation_p.S400C Q8N1F8 S11IP_HUMAN serine/threonine kinase 11 interacting protein 400 protein localization cytoplasm protein kinase binding breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1) 23 Renal(207;0.0183) Epithelial(149;2.69e-07)|all cancers(144;5.91e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) GCAAGCATCTCTGAACCCAGT 0.607000 3 11 0 0 1 0 0 CD80 941 broad.mit.edu 37 3 119263418 119263418 + Missense_Mutation SNP C C G TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr3:119263418C>G ENST00000264246.3 - 3 759 c.397G>C c.(397-399)Gaa>Caa p.E133Q CD80_ENST00000383668.3_Missense_Mutation_p.E133Q|CD80_ENST00000478182.1_Missense_Mutation_p.E133Q|CD80_ENST00000383669.3_Missense_Mutation_p.E133Q NM_005191.3 NP_005182.1 P33681 CD80_HUMAN CD80 molecule 133 Ig-like V-type. interspecies interaction between organisms|intracellular signal transduction|positive regulation of granulocyte macrophage colony-stimulating factor biosynthetic process|positive regulation of interleukin-2 biosynthetic process|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of signal transduction|positive regulation of T-helper 1 cell differentiation|positive regulation of transcription, DNA-dependent|T cell costimulation intracellular coreceptor activity|protein binding breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(2) 12 Abatacept(DB01281) AACGTCACTTCAGCCAGGTGT 0.468000 7 63 0 0 1 0 0 RAB11FIP1 80223 broad.mit.edu 37 8 37730040 37730040 + Silent SNP C C A TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr8:37730040C>A ENST00000330843.4 - 4 2292 c.2280G>T c.(2278-2280)gtG>gtT p.V760V RAB11FIP1_ENST00000524118.1_Intron|RAB11FIP1_ENST00000287263.4_Intron|RAB11FIP1_ENST00000522727.1_Intron|RAB11FIP1_ENST00000523182.1_5'UTR NM_001002814.2 NP_001002814.2 Q6WKZ4 RFIP1_HUMAN RAB11 family interacting protein 1 (class I) 760 protein transport centrosome|phagocytic vesicle membrane|recycling endosome protein binding NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 49 Lung NSC(58;0.118)|all_lung(54;0.195) LUSC - Lung squamous cell carcinoma(8;3.62e-11) CTTTGCTCTCCACAAGAGACC 0.567000 6 28 0.217242 0.22074 1 1 0 LEO1 123169 broad.mit.edu 37 15 52257978 52257978 + Nonsense_Mutation SNP G G T TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr15:52257978G>T ENST00000299601.5 - 2 842 c.782C>A c.(781-783)tCa>tAa p.S261* LEO1_ENST00000315141.5_Nonsense_Mutation_p.S261* NM_138792.2 NP_620147.1 Q8WVC0 LEO1_HUMAN Leo1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae) 261 Asp-rich. histone H2B ubiquitination|histone monoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent Cdc73/Paf1 complex protein binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|skin(1) 14 all cancers(107;0.00264) TTCATCATCTGAATGCCTGTG 0.403000 10 129 1.58986e-06 2.05575e-06 1 1 0 OR10R2 343406 broad.mit.edu 37 1 158450030 158450030 + Missense_Mutation SNP G G A TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr1:158450030G>A ENST00000368152.1 + 1 363 c.363G>A c.(361-363)atG>atA p.M121I RP11-144L1.4_ENST00000426251.1_RNA|RP11-144L1.4_ENST00000419738.1_RNA NM_001004472.1 NP_001004472.1 Q8NGX6 O10R2_HUMAN olfactory receptor, family 10, subfamily R, member 2 121 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(26)|pancreas(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 41 all_hematologic(112;0.0378) CTCTTCAAATGTTCTTCTTCC 0.458000 10 126 0 0 1 0 0 BIRC6 57448 broad.mit.edu 37 2 32703843 32703843 + Missense_Mutation SNP G G C TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr2:32703843G>C ENST00000421745.2 + 36 7343 c.7209G>C c.(7207-7209)tgG>tgC p.W2403C NM_016252.3 NP_057336 Q9NR09 BIRC6_HUMAN baculoviral IAP repeat containing 6 2403 anti-apoptosis|apoptosis intracellular acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5) 172 Acute lymphoblastic leukemia(172;0.155) GTGGTGCTTGGGCTCAGTATT 0.403000 5 46 0 0 1 0 0 SOWAHC 65124 broad.mit.edu 37 2 110373434 110373434 + Silent SNP A A G TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr2:110373434A>G ENST00000356454.3 + 1 1524 c.1368A>G c.(1366-1368)ccA>ccG p.P456P NM_023016.3 NP_075392.2 Q53LP3 ANR57_HUMAN sosondowah ankyrin repeat domain family member C 456 CCAAGGATCCAGGGCGCAAAG 0.557000 4 27 0 0 1 0 0 SLC9A7 84679 broad.mit.edu 37 X 46466593 46466593 + Missense_Mutation SNP C C T TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chrX:46466593C>T ENST00000328306.4 - 17 1997 c.1972G>A c.(1972-1974)Gaa>Aaa p.E658K SLC9A7_ENST00000464933.1_5'UTR NM_001257291.1|NM_032591.2 NP_001244220.1|NP_115980.1 Q96T83 SL9A7_HUMAN solute carrier family 9, subfamily A (NHE7, cation proton antiporter 7), member 7 658 regulation of pH Golgi membrane|integral to membrane|recycling endosome membrane|trans-Golgi network potassium:hydrogen antiporter activity|protein homodimerization activity|sodium:hydrogen antiporter activity breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)|skin(1) 21 AGGTCGCCTTCGGTCAGGATG 0.517000 5 9 0 0 1 0 0 SOS2 6655 broad.mit.edu 37 14 50611890 50611890 + Missense_Mutation SNP C C G TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr14:50611890C>G ENST00000216373.5 - 16 2939 c.2665G>C c.(2665-2667)Gag>Cag p.E889Q SOS2_ENST00000543680.1_Missense_Mutation_p.E856Q NM_006939.2 NP_008870.2 Q07890 SOS2_HUMAN son of sevenless homolog 2 (Drosophila) 889 Ras-GEF. apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol DNA binding|protein binding|Rho guanyl-nucleotide exchange factor activity cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(16)|ovary(2)|skin(1) 39 all_epithelial(31;0.000822)|Breast(41;0.0065) AAACTTACCTCAAAGGTATGG 0.308000 5 51 0 0 1 0 0 SPATA31A7 26165 broad.mit.edu 37 9 65507551 65507551 + Silent SNP C C T TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr9:65507551C>T ENST00000355045.2 - 3 292 c.264G>A c.(262-264)ccG>ccA p.P88P SPATA31A7_ENST00000491812.2_5'UTR NM_015667.2 NP_056482.2 SPATA31 subfamily A, member 7 CCAGGCCTCTCGGGCACTCTC 0.602000 7 73 0 0 1 0 0 IQCB1 9657 broad.mit.edu 37 3 121515999 121515999 + Frame_Shift_Del DEL A A - TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr3:121515999delA ENST00000310864.6 - 9 1056 c.842delT c.(841-843)ttafs p.L281fs IQCB1_ENST00000349820.6_Intron NM_001023570.2 NP_001018864.2 Q15051 IQCB1_HUMAN IQ motif containing B1 281 cilium assembly|maintenance of organ identity|photoreceptor cell maintenance centrosome|photoreceptor connecting cilium calmodulin binding NS(1)|biliary_tract(1)|breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1) 30 GBM - Glioblastoma multiforme(114;0.0983) CATTGGGCTTAAAAGGCCAAC 0.358 8 97 --- --- --- --- PMS2P3 5387 broad.mit.edu 37 7 75142142 75142142 + RNA DEL A A - rs35519730 TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr7:75142142delA ENST00000418756.1 - 0 991 NR_028059.1 lung(1) 1 tctcaaaaagaaaaaaaaaaa 0.418 4 7 --- --- --- --- CDKN2A 1029 broad.mit.edu 37 9 21971055 21971056 + Frame_Shift_Ins INS - - CCGG TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr9:21971055_21971056insCCGG ENST00000579755.1 - 2 637_638 c.345_346insCCGG c.(343-348)cggggcfs p.RG115fs CDKN2A_ENST00000479692.2_Frame_Shift_Ins_p.-50fs|CDKN2A_ENST00000494262.1_Frame_Shift_Ins_p.-50fs|CDKN2A_ENST00000578845.2_Frame_Shift_Ins_p.-50fs|CDKN2A_ENST00000530628.2_Frame_Shift_Ins_p.RG115fs|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000446177.1_Frame_Shift_Ins_p.-101fs|CDKN2A_ENST00000498124.1_Frame_Shift_Ins_p.-101fs|CDKN2A_ENST00000579122.1_Frame_Shift_Ins_p.-101fs|CDKN2A_ENST00000498628.2_Frame_Shift_Ins_p.-50fs|CDKN2A_ENST00000361570.3_Frame_Shift_Ins_p.RG156fs|CDKN2A_ENST00000497750.1_Frame_Shift_Ins_p.-50fs|CDKN2A_ENST00000304494.5_Frame_Shift_Ins_p.-101fs P42771 CD2A1_HUMAN cyclin-dependent kinase inhibitor 2A 131 cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence cytosol|nucleus cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding p.0?(1315)|p.?(44)|p.G101G(3)|p.H83fs*2(2)|p.A102fs*18(1)|p.0(1)|p.G101fs*17(1)|p.T93_D105del(1)|p.A68fs*3(1)|p.A102fs*42(1) NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2) 4199 all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172) all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05) CCAGCCGCGCCCCGGCCCGGTG 0.752 17 HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07) 8 17 --- --- --- --- TYK2 7297 broad.mit.edu 37 19 10475559 10475559 + Frame_Shift_Del DEL C C - TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr19:10475559delC ENST00000525621.1 - 8 1658 c.1177delG c.(1177-1179)gtcfs p.V393fs TYK2_ENST00000264818.6_Frame_Shift_Del_p.V393fs|TYK2_ENST00000529370.1_Frame_Shift_Del_p.V393fs|TYK2_ENST00000524462.1_Frame_Shift_Del_p.V208fs NM_003331.4 NP_003322.3 P29597 TYK2_HUMAN tyrosine kinase 2 393 FERM. intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway cytoskeleton|cytosol|membrane|nucleus ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 64 OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06) TGGATGCTGACACAGTGCTCT 0.657 14 64 --- --- --- --- GRIK5 2901 broad.mit.edu 37 19 42569896 42569898 + In_Frame_Del DEL CAG CAG - TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9bc4f3e6-da15-4d23-ab79-bc4e6271d1ae b3ea5dfa-2b60-4ce0-923d-30e2a876e31b g.chr19:42569896_42569898delCAG ENST00000262895.3 - 1 24_26 c.25_27delCTG c.(25-27)ctgdel p.L9del GRIK5_ENST00000593562.1_In_Frame_Del_p.L9del|GRIK5_ENST00000301218.4_In_Frame_Del_p.L9del NM_002088.4 NP_002079.3 Q16478 GRIK5_HUMAN glutamate receptor, ionotropic, kainate 5 9 cell junction|postsynaptic membrane extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 35 Prostate(69;0.059) L-Glutamic Acid(DB00142) AGGCAACAATCAGCAGCAGCAGC 0.695 2 4 --- --- --- ---