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 PPOX 5498 broad.mit.edu 37 1 161140216 161140216 + Silent SNP G G A TCGA-J9-A8CP-01A-11D-A34U-08 TCGA-J9-A8CP-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6fc7ff0-f510-4b66-b422-4e9a5c0552d6 38604397-3014-4f48-9b92-dbdb45f28a33 g.chr1:161140216G>A ENST00000367999.4 + 10 1271 c.1005G>A c.(1003-1005)gtG>gtA p.V335V PPOX_ENST00000535223.1_Intron|PPOX_ENST00000432542.2_Silent_p.V80V|PPOX_ENST00000352210.5_Silent_p.V335V|PPOX_ENST00000495483.1_3'UTR|PPOX_ENST00000544598.1_Intron NM_001122764.1 NP_001116236.1 P50336 PPOX_HUMAN protoporphyrinogen oxidase 335 heme biosynthetic process intrinsic to mitochondrial inner membrane|mitochondrial intermembrane space flavin adenine dinucleotide binding|oxygen-dependent protoporphyrinogen oxidase activity breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(3) 15 all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00275) GACATTTGGTGCCATCTTCAG 0.547 23 42 --- --- --- --- USH2A 7399 broad.mit.edu 37 1 216243582 216243582 + Missense_Mutation SNP G G C TCGA-J9-A8CP-01A-11D-A34U-08 TCGA-J9-A8CP-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6fc7ff0-f510-4b66-b422-4e9a5c0552d6 38604397-3014-4f48-9b92-dbdb45f28a33 g.chr1:216243582G>C ENST00000366943.2 - 30 6296 c.5910C>G c.(5908-5910)agC>agG p.S1970R USH2A_ENST00000307340.3_Missense_Mutation_p.S1970R O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 1970 Fibronectin type-III 6. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) TCACCTCAATGCTGTATCCAT 0.478 HNSCC(13;0.011) 3 67 --- --- --- --- NBAS 51594 broad.mit.edu 37 2 15415631 15415631 + Missense_Mutation SNP A A C TCGA-J9-A8CP-01A-11D-A34U-08 TCGA-J9-A8CP-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6fc7ff0-f510-4b66-b422-4e9a5c0552d6 38604397-3014-4f48-9b92-dbdb45f28a33 g.chr2:15415631A>C ENST00000281513.5 - 44 5726 c.5701T>G c.(5701-5703)Ttt>Gtt p.F1901V NBAS_ENST00000441750.1_Missense_Mutation_p.F1781V NM_015909.3 NP_056993.2 A2RRP1 NBAS_HUMAN neuroblastoma amplified sequence 1901 NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3) 112 TTTGGAGAAAATGTAACTGCA 0.403 14 45 --- --- --- --- DNAH7 56171 broad.mit.edu 37 2 196737041 196737041 + Missense_Mutation SNP C C A TCGA-J9-A8CP-01A-11D-A34U-08 TCGA-J9-A8CP-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6fc7ff0-f510-4b66-b422-4e9a5c0552d6 38604397-3014-4f48-9b92-dbdb45f28a33 g.chr2:196737041C>A ENST00000312428.6 - 40 6666 c.6566G>T c.(6565-6567)gGt>gTt p.G2189V NM_018897.2 NP_061720.2 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 2189 AAA 3 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3) 205 CAAACAAACACCTTGAATGAC 0.383 9 109 --- --- --- --- FAM194A 131831 broad.mit.edu 37 3 150404109 150404109 + Missense_Mutation SNP C C G rs112279628 TCGA-J9-A8CP-01A-11D-A34U-08 TCGA-J9-A8CP-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6fc7ff0-f510-4b66-b422-4e9a5c0552d6 38604397-3014-4f48-9b92-dbdb45f28a33 g.chr3:150404109C>G ENST00000295910.6 - 4 638 c.586G>C c.(586-588)Gaa>Caa p.E196Q FAM194A_ENST00000491361.1_Missense_Mutation_p.E50Q NM_152394.3 NP_689607.2 Q7L0X2 F194A_HUMAN family with sequence similarity 194, member A 196 NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 38 GCCAGACATTCAGGTTCAGCT 0.388 19 78 --- --- --- --- CLOCK 9575 broad.mit.edu 37 4 56304467 56304467 + Silent SNP T T G TCGA-J9-A8CP-01A-11D-A34U-08 TCGA-J9-A8CP-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6fc7ff0-f510-4b66-b422-4e9a5c0552d6 38604397-3014-4f48-9b92-dbdb45f28a33 g.chr4:56304467T>G ENST00000309964.4 - 21 2593 c.2343A>C c.(2341-2343)ccA>ccC p.P781P CLOCK_ENST00000513440.1_Silent_p.P781P|CLOCK_ENST00000381322.1_Silent_p.P781P NM_004898.3 NP_004889.1 O15516 CLOCK_HUMAN clock circadian regulator 781 circadian rhythm|photoperiodism|positive regulation of transcription from RNA polymerase II promoter cytoplasm|transcription factor complex DNA binding|histone acetyltransferase activity|sequence-specific DNA binding transcription factor activity|signal transducer activity breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(8)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 38 Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101) LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107) ATTGTTGCGGTGGCTGGGTCA 0.468 25 44 --- --- --- --- DCHS2 54798 broad.mit.edu 37 4 155219735 155219735 + Missense_Mutation SNP G G T TCGA-J9-A8CP-01A-11D-A34U-08 TCGA-J9-A8CP-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6fc7ff0-f510-4b66-b422-4e9a5c0552d6 38604397-3014-4f48-9b92-dbdb45f28a33 g.chr4:155219735G>T ENST00000357232.4 - 18 4365 c.4366C>A c.(4366-4368)Cca>Aca p.P1456T NM_017639.3 NP_060109.2 Q6V1P9 PCD23_HUMAN dachsous cadherin-related 2 Cadherin 12. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 176 all_hematologic(180;0.208) Renal(120;0.0854) LUSC - Lung squamous cell carcinoma(193;0.107) CTCCTAGGTGGATCTCCCAGG 0.458 49 97 --- --- --- --- CDH10 1008 broad.mit.edu 37 5 24535310 24535310 + Missense_Mutation SNP A A G TCGA-J9-A8CP-01A-11D-A34U-08 TCGA-J9-A8CP-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6fc7ff0-f510-4b66-b422-4e9a5c0552d6 38604397-3014-4f48-9b92-dbdb45f28a33 g.chr5:24535310A>G ENST00000264463.4 - 5 1232 c.725T>C c.(724-726)aTg>aCg p.M242T NM_006727.3 NP_006718.2 Q9Y6N8 CAD10_HUMAN cadherin 10, type 2 (T2-cadherin) 242 Cadherin 2. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4) 185 STAD - Stomach adenocarcinoma(35;0.0556) CTGGCCGCCCATGTCTTTGGC 0.478 HNSCC(23;0.051) 23 58 --- --- --- --- NIPBL 25836 broad.mit.edu 37 5 36976330 36976330 + Missense_Mutation SNP A A C rs144853101 TCGA-J9-A8CP-01A-11D-A34U-08 TCGA-J9-A8CP-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6fc7ff0-f510-4b66-b422-4e9a5c0552d6 38604397-3014-4f48-9b92-dbdb45f28a33 g.chr5:36976330A>C ENST00000282516.8 + 9 1820 c.1321A>C c.(1321-1323)Act>Cct p.T441P NIPBL_ENST00000504430.1_3'UTR|NIPBL_ENST00000448238.2_Missense_Mutation_p.T441P NM_015384.4|NM_133433.3 NP_056199.2|NP_597677.2 Q6KC79 NIPBL_HUMAN Nipped-B homolog (Drosophila) 441 Gln-rich. 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) ACAACAGAACACTTCAGTTGC 0.413 27 59 --- --- --- --- C6 729 broad.mit.edu 37 5 41161838 41161838 + Missense_Mutation SNP C C A TCGA-J9-A8CP-01A-11D-A34U-08 TCGA-J9-A8CP-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6fc7ff0-f510-4b66-b422-4e9a5c0552d6 38604397-3014-4f48-9b92-dbdb45f28a33 g.chr5:41161838C>A ENST00000263413.3 - 10 1679 c.1415G>T c.(1414-1416)tGg>tTg p.W472L C6_ENST00000337836.5_Missense_Mutation_p.W472L|C6_ENST00000475349.1_5'UTR NM_001115131.1 NP_001108603.2 P13671 CO6_HUMAN complement component 6 472 MACPF. 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) TGATTCTAACCACTCAGAAAA 0.428 5 111 --- --- --- --- ANKRD55 79722 broad.mit.edu 37 5 55407577 55407577 + Missense_Mutation SNP C C T TCGA-J9-A8CP-01A-11D-A34U-08 TCGA-J9-A8CP-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6fc7ff0-f510-4b66-b422-4e9a5c0552d6 38604397-3014-4f48-9b92-dbdb45f28a33 g.chr5:55407577C>T ENST00000341048.4 - 10 1149 c.998G>A c.(997-999)aGc>aAc p.S333N ANKRD55_ENST00000504958.2_Missense_Mutation_p.S290N|ANKRD55_ENST00000434982.2_Missense_Mutation_p.S45N|ANKRD55_ENST00000505970.2_5'UTR NM_024669.2 NP_078945.2 Q3KP44 ANR55_HUMAN ankyrin repeat domain 55 332 breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(1) 34 Lung NSC(810;8.69e-05)|Prostate(74;0.00634)|Breast(144;0.0334)|Ovarian(174;0.223) GGGCCGACTGCTCTGGGAGGG 0.488 11 207 --- --- --- --- POU5F2 134187 broad.mit.edu 37 5 93077212 93077212 + Missense_Mutation SNP C C T TCGA-J9-A8CP-01A-11D-A34U-08 TCGA-J9-A8CP-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6fc7ff0-f510-4b66-b422-4e9a5c0552d6 38604397-3014-4f48-9b92-dbdb45f28a33 g.chr5:93077212C>T ENST00000510627.4 - 1 131 c.58G>A c.(58-60)Ggc>Agc p.G20S FAM172A_ENST00000509163.1_Intron|FAM172A_ENST00000509739.1_Intron|FAM172A_ENST00000395965.3_Intron|FAM172A_ENST00000505869.1_Intron NM_153216.1 NP_694948.1 Q8N7G0 PO5F2_HUMAN POU domain class 5, transcription factor 2 20 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity all_cancers(142;3.87e-05)|all_epithelial(76;4.59e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19) UCEC - Uterine corpus endometrioid carcinoma (5;0.0415)|all cancers(79;2.03e-19) CCTCTGGGGCCGCCCCCACCA 0.687 14 9 --- --- --- --- PPP1R3A 5506 broad.mit.edu 37 7 113519322 113519322 + Missense_Mutation SNP C C T rs144397367 TCGA-J9-A8CP-01A-11D-A34U-08 TCGA-J9-A8CP-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6fc7ff0-f510-4b66-b422-4e9a5c0552d6 38604397-3014-4f48-9b92-dbdb45f28a33 g.chr7:113519322C>T ENST00000284601.3 - 4 1893 c.1825G>A c.(1825-1827)Gct>Act p.A609T NM_002711.3 NP_002702.2 Q16821 PPR3A_HUMAN protein phosphatase 1, regulatory subunit 3A 609 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 CCTCCTAAAGCGCTGCCTTCA 0.403 15 131 --- --- --- --- SUPV3L1 6832 broad.mit.edu 37 10 70940179 70940179 + Silent SNP C C T TCGA-J9-A8CP-01A-11D-A34U-08 TCGA-J9-A8CP-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6fc7ff0-f510-4b66-b422-4e9a5c0552d6 38604397-3014-4f48-9b92-dbdb45f28a33 g.chr10:70940179C>T ENST00000359655.4 + 1 192 c.132C>T c.(130-132)gtC>gtT p.V44V SUPV3L1_ENST00000483572.1_3'UTR NM_003171.3 NP_003162.2 Q8IYB8 SUV3_HUMAN suppressor of var1, 3-like 1 (S. cerevisiae) 44 DNA duplex unwinding mitochondrial nucleoid|nucleus ATP binding|DNA binding|DNA helicase activity|RNA binding NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 AAGTTTCTGTCCTTGCCACCG 0.667 28 77 --- --- --- --- KCNK18 338567 broad.mit.edu 37 10 118969534 118969534 + Nonsense_Mutation SNP C C A TCGA-J9-A8CP-01A-11D-A34U-08 TCGA-J9-A8CP-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6fc7ff0-f510-4b66-b422-4e9a5c0552d6 38604397-3014-4f48-9b92-dbdb45f28a33 g.chr10:118969534C>A ENST00000334549.1 + 3 879 c.879C>A c.(877-879)taC>taA p.Y293* NM_181840.1 NP_862823.1 Q7Z418 KCNKI_HUMAN potassium channel, subfamily K, member 18 293 integral to membrane|plasma membrane breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 41 Colorectal(252;0.19) all cancers(201;0.0211) TTTTTGCCTACATTTCCTGTG 0.498 9 152 --- --- --- --- PDZD8 118987 broad.mit.edu 37 10 119078421 119078421 + Missense_Mutation SNP T T C TCGA-J9-A8CP-01A-11D-A34U-08 TCGA-J9-A8CP-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6fc7ff0-f510-4b66-b422-4e9a5c0552d6 38604397-3014-4f48-9b92-dbdb45f28a33 g.chr10:119078421T>C ENST00000334464.5 - 3 1299 c.1060A>G c.(1060-1062)Agt>Ggt p.S354G NM_173791.3 NP_776152.1 Q8NEN9 PDZD8_HUMAN PDZ domain containing 8 354 intracellular signal transduction metal ion binding kidney(3)|large_intestine(8)|lung(24)|upper_aerodigestive_tract(3) 38 Colorectal(252;0.19) all cancers(201;0.0121) TCCCAAACACTACTGCTTAAC 0.328 22 38 --- --- --- --- TNKS1BP1 85456 broad.mit.edu 37 11 57069307 57069307 + Missense_Mutation SNP G G A TCGA-J9-A8CP-01A-11D-A34U-08 TCGA-J9-A8CP-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6fc7ff0-f510-4b66-b422-4e9a5c0552d6 38604397-3014-4f48-9b92-dbdb45f28a33 g.chr11:57069307G>A ENST00000532437.1 - 8 5256 c.4945C>T c.(4945-4947)Cct>Tct p.P1649S TNKS1BP1_ENST00000358252.3_Missense_Mutation_p.P1649S Q9C0C2 TB182_HUMAN tankyrase 1 binding protein 1, 182kDa 1649 Arg/Glu/Lys-rich (charged). nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase cytoskeleton|cytosol|nuclear telomeric heterochromatin ankyrin binding|enzyme binding breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 all_epithelial(135;0.21) CTCAGGCCAGGAAAGAGGTTG 0.557 15 34 --- --- --- --- CHD4 1108 broad.mit.edu 37 12 6711128 6711128 + Missense_Mutation SNP T T C TCGA-J9-A8CP-01A-11D-A34U-08 TCGA-J9-A8CP-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6fc7ff0-f510-4b66-b422-4e9a5c0552d6 38604397-3014-4f48-9b92-dbdb45f28a33 g.chr12:6711128T>C ENST00000309577.6 - 4 599 c.436A>G c.(436-438)Aag>Gag p.K146E CHD4_ENST00000357008.2_Missense_Mutation_p.K146E|CHD4_ENST00000544484.1_Missense_Mutation_p.K143E|CHD4_ENST00000544040.1_Missense_Mutation_p.K139E Q14839 CHD4_HUMAN chromodomain helicase DNA binding protein 4 146 chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent microtubule organizing center|NuRD complex ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding central_nervous_system(2) 2 CCAGGCACCTTTGAATCATCA 0.433 9 31 --- --- --- --- ADAMTS20 80070 broad.mit.edu 37 12 43821152 43821152 + Missense_Mutation SNP G G T TCGA-J9-A8CP-01A-11D-A34U-08 TCGA-J9-A8CP-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6fc7ff0-f510-4b66-b422-4e9a5c0552d6 38604397-3014-4f48-9b92-dbdb45f28a33 g.chr12:43821152G>T ENST00000389420.3 - 27 4065 c.4066C>A c.(4066-4068)Cca>Aca p.P1356T ADAMTS20_ENST00000553158.1_Missense_Mutation_p.P1356T|ADAMTS20_ENST00000395541.2_Missense_Mutation_p.P474T NM_025003.3 NP_079279.3 P59510 ATS20_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 20 1356 TSP type-1 9. proteinaceous extracellular matrix zinc ion binding breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1) 95 all_cancers(12;2.6e-05)|Lung SC(27;0.184) Lung NSC(34;0.0569)|all_lung(34;0.129) GBM - Glioblastoma multiforme(48;0.0473) CAAGGCCCTGGACCACATTGC 0.448 12 41 --- --- --- --- PAN2 9924 broad.mit.edu 37 12 56720445 56720445 + Silent SNP T T C TCGA-J9-A8CP-01A-11D-A34U-08 TCGA-J9-A8CP-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6fc7ff0-f510-4b66-b422-4e9a5c0552d6 38604397-3014-4f48-9b92-dbdb45f28a33 g.chr12:56720445T>C ENST00000425394.2 - 7 1594 c.1218A>G c.(1216-1218)acA>acG p.T406T PAN2_ENST00000440411.3_Silent_p.T406T|PAN2_ENST00000257931.5_Silent_p.T406T|PAN2_ENST00000548043.1_Silent_p.T406T NM_001127460.2 NP_001120932 Q504Q3 PAN2_HUMAN PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae) 406 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process cytosol|nucleus nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 41 CAGAGAGAAGTGTGTCAGTGG 0.587 11 25 --- --- --- --- IL22 50616 broad.mit.edu 37 12 68642636 68642636 + Missense_Mutation SNP G G C TCGA-J9-A8CP-01A-11D-A34U-08 TCGA-J9-A8CP-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6fc7ff0-f510-4b66-b422-4e9a5c0552d6 38604397-3014-4f48-9b92-dbdb45f28a33 g.chr12:68642636G>C ENST00000538666.1 - 6 553 c.483C>G c.(481-483)atC>atG p.I161M IL22_ENST00000328087.4_Missense_Mutation_p.I161M Q9GZX6 IL22_HUMAN interleukin 22 161 acute-phase response extracellular space cytokine activity|interleukin-22 receptor binding breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7) 14 Myeloproliferative disorder(1001;0.0255) Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018) GBM - Glioblastoma multiforme(7;5.06e-05)|BRCA - Breast invasive adenocarcinoma(357;0.00104) CAATTGCTTTGATCTCTCCAC 0.368 7 205 --- --- --- --- ZNF106 64397 broad.mit.edu 37 15 42720231 42720231 + Silent SNP G G T TCGA-J9-A8CP-01A-11D-A34U-08 TCGA-J9-A8CP-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6fc7ff0-f510-4b66-b422-4e9a5c0552d6 38604397-3014-4f48-9b92-dbdb45f28a33 g.chr15:42720231G>T ENST00000263805.4 - 12 5240 c.4914C>A c.(4912-4914)gtC>gtA p.V1638V ZNF106_ENST00000565380.1_Silent_p.V866V|ZNF106_ENST00000565611.1_Silent_p.V823V NM_001284306.1|NM_001284307.1|NM_022473.1 NP_001271235.1|NP_001271236.1|NP_071918.1 zinc finger protein 106 TGTTGAAGGTGACCACAGTGC 0.522 4 146 --- --- --- --- USP8 9101 broad.mit.edu 37 15 50782019 50782019 + Missense_Mutation SNP A A G TCGA-J9-A8CP-01A-11D-A34U-08 TCGA-J9-A8CP-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6fc7ff0-f510-4b66-b422-4e9a5c0552d6 38604397-3014-4f48-9b92-dbdb45f28a33 g.chr15:50782019A>G ENST00000433963.1 + 14 2412 c.1912A>G c.(1912-1914)Aga>Gga p.R638G USP8_ENST00000396444.3_Missense_Mutation_p.R638G|USP8_ENST00000425032.3_Missense_Mutation_p.R532G|USP8_ENST00000307179.4_Missense_Mutation_p.R638G P40818 UBP8_HUMAN ubiquitin specific peptidase 8 638 cell cycle|cell proliferation|endosome organization|protein K48-linked deubiquitination|protein K63-linked deubiquitination|ubiquitin-dependent protein catabolic process cytosol|early endosome|extrinsic to plasma membrane|nucleus cysteine-type endopeptidase activity|SH3 domain binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 35 all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771) ACCTTTGACAAGAGCACGAAG 0.323 10 23 --- --- --- --- MED13 9969 broad.mit.edu 37 17 60061727 60061727 + Splice_Site SNP T T C TCGA-J9-A8CP-01A-11D-A34U-08 TCGA-J9-A8CP-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6fc7ff0-f510-4b66-b422-4e9a5c0552d6 38604397-3014-4f48-9b92-dbdb45f28a33 g.chr17:60061727T>C ENST00000397786.2 - 15 2769 c.2693A>G c.(2692-2694)gAt>gGt p.D898G NM_005121.2 NP_005112.2 Q9UHV7 MED13_HUMAN mediator complex subunit 13 898 androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 88 ATAAGAAAAATCCTACAATAT 0.348 15 31 --- --- --- --- KIAA0195 9772 broad.mit.edu 37 17 73487841 73487841 + Missense_Mutation SNP C C T TCGA-J9-A8CP-01A-11D-A34U-08 TCGA-J9-A8CP-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6fc7ff0-f510-4b66-b422-4e9a5c0552d6 38604397-3014-4f48-9b92-dbdb45f28a33 g.chr17:73487841C>T ENST00000314256.7 + 14 1850 c.1456C>T c.(1456-1458)Cgt>Tgt p.R486C KIAA0195_ENST00000579208.1_Missense_Mutation_p.R137C|KIAA0195_ENST00000375248.5_Missense_Mutation_p.R496C NM_014738.4 NP_055553.3 Q12767 K0195_HUMAN KIAA0195 486 ATP biosynthetic process|cation transport integral to membrane ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1) 42 all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246) all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154) TGAGCAGGAGCGTGGCGACTG 0.617 11 29 --- --- --- --- LPHN1 22859 broad.mit.edu 37 19 14268133 14268133 + Missense_Mutation SNP T T C TCGA-J9-A8CP-01A-11D-A34U-08 TCGA-J9-A8CP-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6fc7ff0-f510-4b66-b422-4e9a5c0552d6 38604397-3014-4f48-9b92-dbdb45f28a33 g.chr19:14268133T>C ENST00000340736.6 - 15 2987 c.2690A>G c.(2689-2691)aAg>aGg p.K897R LPHN1_ENST00000361434.3_Missense_Mutation_p.K892R|CTB-55O6.12_ENST00000592086.1_RNA|CTB-55O6.12_ENST00000588387.1_RNA NM_001008701.2 NP_001008701.1 O94910 LPHN1_HUMAN latrophilin 1 897 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|sugar binding central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 GCACAGGTTCTTGTGGATGGT 0.597 30 92 --- --- --- --- ITCH 83737 broad.mit.edu 37 20 33068460 33068460 + Silent SNP T T A TCGA-J9-A8CP-01A-11D-A34U-08 TCGA-J9-A8CP-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6fc7ff0-f510-4b66-b422-4e9a5c0552d6 38604397-3014-4f48-9b92-dbdb45f28a33 g.chr20:33068460T>A ENST00000374864.4 + 19 2088 c.1875T>A c.(1873-1875)cgT>cgA p.R625R ITCH_ENST00000262650.6_Silent_p.R666R|ITCH_ENST00000483727.1_3'UTR|ITCH_ENST00000535650.1_Silent_p.R515R NM_001257137.1|NM_001257138.1|NM_031483.5 NP_001244066.1|NP_001244067.1|NP_113671.3 Q96J02 ITCH_HUMAN itchy E3 ubiquitin protein ligase 666 HECT. apoptosis|entry of virus into host cell|inflammatory response|innate immune response|negative regulation of apoptosis|negative regulation of defense response to virus|negative regulation of JNK cascade|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K29-linked ubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cell growth|regulation of protein deubiquitination|response to virus cytosol|nucleus|plasma membrane CXCR chemokine receptor binding|ribonucleoprotein binding|ubiquitin-protein ligase activity NS(1)|breast(9)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(13)|skin(1)|upper_aerodigestive_tract(1) 36 TCTATAAGCGTATCTTGAACA 0.338 48 119 --- --- --- --- THOC5 8563 broad.mit.edu 37 22 29924168 29924168 + Splice_Site SNP T T C TCGA-J9-A8CP-01A-11D-A34U-08 TCGA-J9-A8CP-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6fc7ff0-f510-4b66-b422-4e9a5c0552d6 38604397-3014-4f48-9b92-dbdb45f28a33 g.chr22:29924168T>C ENST00000490103.1 - 11 1089 c.e11-2 THOC5_ENST00000397871.1_Splice_Site|CTA-256D12.11_ENST00000411969.1_RNA|THOC5_ENST00000397872.1_Splice_Site|THOC5_ENST00000397873.2_Splice_Site NM_003678.4 NP_003669.4 Q13769 THOC5_HUMAN THO complex 5 intronless viral mRNA export from host nucleus|monocyte differentiation|mRNA processing|primitive hemopoiesis|RNA splicing cytoplasm|intermediate filament cytoskeleton|THO complex part of transcription export complex protein binding|RNA binding NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 CCGGCGCTTCTGGACAAAGGA 0.572 23 44 --- --- --- --- PLXNB2 23654 broad.mit.edu 37 22 50720454 50720454 + Silent SNP C C G TCGA-J9-A8CP-01A-11D-A34U-08 TCGA-J9-A8CP-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6fc7ff0-f510-4b66-b422-4e9a5c0552d6 38604397-3014-4f48-9b92-dbdb45f28a33 g.chr22:50720454C>G ENST00000449103.1 - 20 3314 c.3174G>C c.(3172-3174)ccG>ccC p.P1058P PLXNB2_ENST00000359337.4_Silent_p.P1058P O15031 PLXB2_HUMAN plexin B2 1058 IPT/TIG 3. regulation of small GTPase mediated signal transduction integral to membrane|intracellular GTPase activator activity|protein binding|receptor activity breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 66 all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) CAGGCACAGCCGGGGACAGGA 0.647 13 26 --- --- --- --- FOXA1 3169 broad.mit.edu 37 14 38061202 38061208 + Frame_Shift_Del DEL GGCGGCG GGCGGCG - TCGA-J9-A8CP-01A-11D-A34U-08 TCGA-J9-A8CP-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6fc7ff0-f510-4b66-b422-4e9a5c0552d6 38604397-3014-4f48-9b92-dbdb45f28a33 g.chr14:38061202_38061208delGGCGGCG ENST00000250448.2 - 2 842_848 c.781_787delCGCCGCC c.(781-789)cgccgccagfs p.RRQ261fs FOXA1_ENST00000540786.1_Frame_Shift_Del_p.RRQ228fs|FOXA1_ENST00000545425.2_5'UTR NM_004496.3 NP_004487.2 P55317 FOXA1_HUMAN forkhead box A1 261 chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development transcription factor complex DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12) 19 Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213) Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239) GBM - Glioblastoma multiforme(112;0.0222) AAGCGCTTCTGGCGGCGCAAGTAGCAG 0.710 8 27 --- --- --- ---