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 PTRHD1 391356 broad.mit.edu 37 2 25013322 25013322 + Missense_Mutation SNP T T G TCGA-KK-A8IG-01A-11D-A364-08 TCGA-KK-A8IG-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 082edbc7-1c72-4487-8603-5f20dd332ac3 ab1b5fbe-db21-4790-94c3-f56579040952 g.chr2:25013322T>G ENST00000328379.5 - 2 385 c.381A>C c.(379-381)gaA>gaC p.E127D PTRHD1_ENST00000487316.1_5'UTR NM_001013663.1 NP_001013685.1 Q6GMV3 PTRD1_HUMAN peptidyl-tRNA hydrolase domain containing 1 translation aminoacyl-tRNA hydrolase activity|protein tyrosine phosphatase activity autonomic_ganglia(1)|central_nervous_system(1)|large_intestine(2)|lung(1)|skin(1) 6 GGCCCACTTCTTCCTTGGGGT 0.493 23 43 --- --- --- --- SLC4A1AP 22950 broad.mit.edu 37 2 27907927 27907927 + Silent SNP A A G TCGA-KK-A8IG-01A-11D-A364-08 TCGA-KK-A8IG-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 082edbc7-1c72-4487-8603-5f20dd332ac3 ab1b5fbe-db21-4790-94c3-f56579040952 g.chr2:27907927A>G ENST00000326019.6 + 10 2181 c.1899A>G c.(1897-1899)gaA>gaG p.E633E NM_018158.2 NP_060628.2 Q9BWU0 NADAP_HUMAN solute carrier family 4 (anion exchanger), member 1, adaptor protein 633 cytoplasm|nucleus double-stranded RNA binding|protein binding breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|upper_aerodigestive_tract(1) 23 Acute lymphoblastic leukemia(172;0.155) AGCGTCCAGAACTCCCTCCAA 0.418 4 72 --- --- --- --- SLC25A38 54977 broad.mit.edu 37 3 39436020 39436020 + Missense_Mutation SNP C C T TCGA-KK-A8IG-01A-11D-A364-08 TCGA-KK-A8IG-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 082edbc7-1c72-4487-8603-5f20dd332ac3 ab1b5fbe-db21-4790-94c3-f56579040952 g.chr3:39436020C>T ENST00000273158.4 + 6 1122 c.745C>T c.(745-747)Cca>Tca p.P249S NM_017875.2 NP_060345.2 Q96DW6 S2538_HUMAN solute carrier family 25, member 38 249 erythrocyte differentiation|heme biosynthetic process|transport integral to membrane|mitochondrial inner membrane breast(1)|endometrium(1)|large_intestine(1)|lung(6)|skin(1)|stomach(1) 11 KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661) GCAGCTTTATCCACTGAAGTT 0.378 38 79 --- --- --- --- DIRC2 84925 broad.mit.edu 37 3 122545901 122545901 + Missense_Mutation SNP T T C TCGA-KK-A8IG-01A-11D-A364-08 TCGA-KK-A8IG-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 082edbc7-1c72-4487-8603-5f20dd332ac3 ab1b5fbe-db21-4790-94c3-f56579040952 g.chr3:122545901T>C ENST00000261038.5 + 3 1090 c.692T>C c.(691-693)gTg>gCg p.V231A NM_032839.2 NP_116228.1 Q96SL1 DIRC2_HUMAN disrupted in renal carcinoma 2 231 transport integral to membrane endometrium(2)|large_intestine(1)|lung(14)|prostate(1) 18 GBM - Glioblastoma multiforme(114;0.0614) ATAGAGGCTGTGTTATATGCA 0.378 28 82 --- --- --- --- DIRC2 84925 broad.mit.edu 37 3 122545904 122545904 + Missense_Mutation SNP T T C TCGA-KK-A8IG-01A-11D-A364-08 TCGA-KK-A8IG-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 082edbc7-1c72-4487-8603-5f20dd332ac3 ab1b5fbe-db21-4790-94c3-f56579040952 g.chr3:122545904T>C ENST00000261038.5 + 3 1093 c.695T>C c.(694-696)tTa>tCa p.L232S NM_032839.2 NP_116228.1 Q96SL1 DIRC2_HUMAN disrupted in renal carcinoma 2 232 transport integral to membrane endometrium(2)|large_intestine(1)|lung(14)|prostate(1) 18 GBM - Glioblastoma multiforme(114;0.0614) GAGGCTGTGTTATATGCAGGT 0.383 27 79 --- --- --- --- LINC00969 440993 broad.mit.edu 37 3 195391031 195391031 + RNA SNP C C T TCGA-KK-A8IG-01A-11D-A364-08 TCGA-KK-A8IG-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 082edbc7-1c72-4487-8603-5f20dd332ac3 ab1b5fbe-db21-4790-94c3-f56579040952 g.chr3:195391031C>T ENST00000445430.1 + 0 557 GCGGACACAGCCTCAAGTTTG 0.488 7 105 --- --- --- --- LRRC66 339977 broad.mit.edu 37 4 52860765 52860765 + Nonsense_Mutation SNP G G C TCGA-KK-A8IG-01A-11D-A364-08 TCGA-KK-A8IG-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 082edbc7-1c72-4487-8603-5f20dd332ac3 ab1b5fbe-db21-4790-94c3-f56579040952 g.chr4:52860765G>C ENST00000343457.3 - 4 2429 c.2423C>G c.(2422-2424)tCa>tGa p.S808* NM_001024611.1 NP_001019782.1 Q68CR7 LRC66_HUMAN leucine rich repeat containing 66 808 integral to membrane central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1) 58 ATTCCCTGGTGACCTGGGCCA 0.493 3 23 --- --- --- --- METTL14 57721 broad.mit.edu 37 4 119609163 119609163 + Missense_Mutation SNP G G T TCGA-KK-A8IG-01A-11D-A364-08 TCGA-KK-A8IG-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 082edbc7-1c72-4487-8603-5f20dd332ac3 ab1b5fbe-db21-4790-94c3-f56579040952 g.chr4:119609163G>T ENST00000388822.5 + 2 319 c.152G>T c.(151-153)tGc>tTc p.C51F METTL14_ENST00000506780.1_Missense_Mutation_p.A13S Q9HCE5 MTL14_HUMAN methyltransferase like 14 nucleus mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|stomach(1) 16 AGAGAAACTTGCAGGTCAGTC 0.408 10 12 --- --- --- --- JADE1 79960 broad.mit.edu 37 4 129782991 129782991 + Missense_Mutation SNP A A T TCGA-KK-A8IG-01A-11D-A364-08 TCGA-KK-A8IG-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 082edbc7-1c72-4487-8603-5f20dd332ac3 ab1b5fbe-db21-4790-94c3-f56579040952 g.chr4:129782991A>T ENST00000226319.6 + 9 1394 c.1114A>T c.(1114-1116)Agg>Tgg p.R372W PHF17_ENST00000512960.1_Missense_Mutation_p.R372W|PHF17_ENST00000511647.1_Missense_Mutation_p.R372W|PHF17_ENST00000413543.2_Missense_Mutation_p.R372W|PHF17_ENST00000452328.2_Missense_Mutation_p.R360W NM_199320.2 NP_955352.1 Q6IE81 JADE1_HUMAN 372 apoptosis|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation|negative regulation of cell growth|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent histone acetyltransferase complex|mitochondrion protein binding|zinc ion binding NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 29 CAGCTCACATAGGAAACCCGA 0.557 8 135 --- --- --- --- PCDH18 54510 broad.mit.edu 37 4 138452054 138452054 + Missense_Mutation SNP A A C TCGA-KK-A8IG-01A-11D-A364-08 TCGA-KK-A8IG-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 082edbc7-1c72-4487-8603-5f20dd332ac3 ab1b5fbe-db21-4790-94c3-f56579040952 g.chr4:138452054A>C ENST00000344876.4 - 1 1575 c.1189T>G c.(1189-1191)Tgt>Ggt p.C397G PCDH18_ENST00000412923.2_Missense_Mutation_p.C397G|PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000507846.1_Missense_Mutation_p.C177G|PCDH18_ENST00000510305.1_Intron NM_019035.3 NP_061908.1 Q9HCL0 PCD18_HUMAN protocadherin 18 397 Cadherin 4. brain development|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 86 all_hematologic(180;0.24) TGAAGCTTACAAACTATTTCT 0.343 3 70 --- --- --- --- CD180 4064 broad.mit.edu 37 5 66479763 66479763 + Missense_Mutation SNP A A G TCGA-KK-A8IG-01A-11D-A364-08 TCGA-KK-A8IG-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 082edbc7-1c72-4487-8603-5f20dd332ac3 ab1b5fbe-db21-4790-94c3-f56579040952 g.chr5:66479763A>G ENST00000256447.4 - 3 1065 c.908T>C c.(907-909)tTg>tCg p.L303S NM_005582.2 NP_005573.2 Q99467 CD180_HUMAN CD180 molecule 303 inflammatory response|innate immune response integral to membrane|plasma membrane receptor activity cervix(1)|endometrium(2)|kidney(7)|large_intestine(12)|liver(1)|lung(8)|ovary(1)|stomach(2) 34 Lung NSC(167;4.94e-05)|Prostate(74;0.00601)|Ovarian(174;0.0654)|Breast(144;0.198)|Colorectal(97;0.234) Lung(70;0.0046) TGTCAGATCCAATTCTTGGAG 0.453 25 55 --- --- --- --- DOPEY1 23033 broad.mit.edu 37 6 83850061 83850061 + Nonsense_Mutation SNP C C A TCGA-KK-A8IG-01A-11D-A364-08 TCGA-KK-A8IG-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 082edbc7-1c72-4487-8603-5f20dd332ac3 ab1b5fbe-db21-4790-94c3-f56579040952 g.chr6:83850061C>A ENST00000349129.2 + 23 5614 c.5354C>A c.(5353-5355)tCa>tAa p.S1785* DOPEY1_ENST00000237163.5_Nonsense_Mutation_p.S1766*|DOPEY1_ENST00000484282.1_3'UTR|DOPEY1_ENST00000369739.3_Nonsense_Mutation_p.S1776* NM_015018.3 NP_055833.2 Q5JWR5 DOP1_HUMAN dopey family member 1 1785 protein transport breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 67 all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203) BRCA - Breast invasive adenocarcinoma(397;0.053) GCTGATTCTTCAGAAAAGATG 0.408 7 84 --- --- --- --- TMEM248 55069 broad.mit.edu 37 7 66413640 66413640 + Silent SNP C C T TCGA-KK-A8IG-01A-11D-A364-08 TCGA-KK-A8IG-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 082edbc7-1c72-4487-8603-5f20dd332ac3 ab1b5fbe-db21-4790-94c3-f56579040952 g.chr7:66413640C>T ENST00000341567.4 + 4 810 c.555C>T c.(553-555)tgC>tgT p.C185C NM_017994.4 NP_060464.1 transmembrane protein 248 TCACAGCCTGCATGACCCTCA 0.592 3 36 --- --- --- --- CSMD3 114788 broad.mit.edu 37 8 113240989 113240989 + Missense_Mutation SNP G G T TCGA-KK-A8IG-01A-11D-A364-08 TCGA-KK-A8IG-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 082edbc7-1c72-4487-8603-5f20dd332ac3 ab1b5fbe-db21-4790-94c3-f56579040952 g.chr8:113240989G>T ENST00000297405.5 - 70 11204 c.10960C>A c.(10960-10962)Caa>Aaa p.Q3654K CSMD3_ENST00000343508.3_Missense_Mutation_p.Q3614K|CSMD3_ENST00000455883.2_Missense_Mutation_p.Q3485K|CSMD3_ENST00000352409.3_Missense_Mutation_p.Q3584K NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 3654 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 GCTTACCTTTGTTTATAAAGA 0.294 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 4 63 --- --- --- --- PNPLA7 375775 broad.mit.edu 37 9 140444626 140444626 + Missense_Mutation SNP G G C TCGA-KK-A8IG-01A-11D-A364-08 TCGA-KK-A8IG-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 082edbc7-1c72-4487-8603-5f20dd332ac3 ab1b5fbe-db21-4790-94c3-f56579040952 g.chr9:140444626G>C ENST00000406427.1 - 1 360 c.24C>G c.(22-24)agC>agG p.S8R PNPLA7_ENST00000277531.4_Missense_Mutation_p.S8R NM_001098537.1 NP_001092007.1 Q6ZV29 PLPL7_HUMAN patatin-like phospholipase domain containing 7 8 lipid metabolic process endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane hydrolase activity breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 all_cancers(76;0.126) OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839) ATACCTGTGGGCTGTCATCTT 0.562 25 47 --- --- --- --- ZNF518A 9849 broad.mit.edu 37 10 97917472 97917472 + RNA SNP C C G TCGA-KK-A8IG-01A-11D-A364-08 TCGA-KK-A8IG-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 082edbc7-1c72-4487-8603-5f20dd332ac3 ab1b5fbe-db21-4790-94c3-f56579040952 g.chr10:97917472C>G ENST00000534948.1 + 0 2250 Q6AHZ1 Z518A_HUMAN zinc finger protein 518A regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2) 24 Colorectal(252;0.0815) Epithelial(162;4.23e-08)|all cancers(201;1.85e-06) GCCTATCAAACAAAATGTATG 0.398 27 56 --- --- --- --- TACC2 10579 broad.mit.edu 37 10 123844789 123844789 + Missense_Mutation SNP G G T TCGA-KK-A8IG-01A-11D-A364-08 TCGA-KK-A8IG-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 082edbc7-1c72-4487-8603-5f20dd332ac3 ab1b5fbe-db21-4790-94c3-f56579040952 g.chr10:123844789G>T ENST00000369005.1 + 4 3114 c.2774G>T c.(2773-2775)aGt>aTt p.S925I TACC2_ENST00000453444.2_Missense_Mutation_p.S925I|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000515603.1_Missense_Mutation_p.S925I|TACC2_ENST00000334433.3_Missense_Mutation_p.S925I|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000515273.1_Missense_Mutation_p.S925I NM_206862.2 NP_996744.2 O95359 TACC2_HUMAN transforming, acidic coiled-coil containing protein 2 925 microtubule organizing center|nucleus nuclear hormone receptor binding NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 83 all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197) GTTTGGGAGAGTTCTCTGACA 0.537 25 50 --- --- --- --- KBTBD3 143879 broad.mit.edu 37 11 105929646 105929646 + Missense_Mutation SNP T T C TCGA-KK-A8IG-01A-11D-A364-08 TCGA-KK-A8IG-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 082edbc7-1c72-4487-8603-5f20dd332ac3 ab1b5fbe-db21-4790-94c3-f56579040952 g.chr11:105929646T>C ENST00000526793.1 - 2 338 c.179A>G c.(178-180)gAt>gGt p.D60G KBTBD3_ENST00000531482.2_Missense_Mutation_p.D60G|KBTBD3_ENST00000534815.1_Intron|KBTBD3_ENST00000531837.1_Missense_Mutation_p.D60G NM_152433.3 NP_689646.2 Q8NAB2 KBTB3_HUMAN kelch repeat and BTB (POZ) domain containing 3 56 BTB. NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|prostate(1) 25 Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321) BRCA - Breast invasive adenocarcinoma(274;5.43e-05)|Epithelial(105;0.00418)|all cancers(92;0.0299) GATTATTTCATCTTTCATAAT 0.313 16 38 --- --- --- --- THY1 7070 broad.mit.edu 37 11 119291595 119291595 + Silent SNP G G A TCGA-KK-A8IG-01A-11D-A364-08 TCGA-KK-A8IG-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 082edbc7-1c72-4487-8603-5f20dd332ac3 ab1b5fbe-db21-4790-94c3-f56579040952 g.chr11:119291595G>A ENST00000284240.5 - 2 1060 c.21C>T c.(19-21)atC>atT p.I7I USP2-AS1_ENST00000530002.1_RNA|USP2-AS1_ENST00000578923.1_RNA|THY1_ENST00000580275.1_Silent_p.I7I|USP2-AS1_ENST00000500970.1_RNA|THY1_ENST00000528522.1_Silent_p.I7I|THY1_ENST00000527590.1_Intron|USP2-AS1_ENST00000498979.2_RNA NM_006288.3 NP_006279.2 P04216 THY1_HUMAN Thy-1 cell surface antigen 7 angiogenesis|cell-cell adhesion|cytoskeleton organization|focal adhesion assembly|negative regulation of axonogenesis|negative regulation of cell migration|negative regulation of protein kinase activity|negative regulation of T cell receptor signaling pathway|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of T cell activation|retinal cone cell development|T cell receptor signaling pathway endoplasmic reticulum|growth cone|integral to plasma membrane|membrane raft GPI anchor binding|integrin binding|Rho GTPase activator activity breast(1)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1) 12 Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;3.83e-05) GCAGGAGAGCGATGCTGATGG 0.607 17 143 --- --- --- --- ARHGAP32 9743 broad.mit.edu 37 11 128993409 128993409 + Missense_Mutation SNP C C T TCGA-KK-A8IG-01A-11D-A364-08 TCGA-KK-A8IG-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 082edbc7-1c72-4487-8603-5f20dd332ac3 ab1b5fbe-db21-4790-94c3-f56579040952 g.chr11:128993409C>T ENST00000310343.9 - 4 333 c.334G>A c.(334-336)Ggt>Agt p.G112S ARHGAP32_ENST00000524655.1_Missense_Mutation_p.G38S NM_001142685.1 NP_001136157.1 A7KAX9 RHG32_HUMAN Rho GTPase activating protein 32 112 cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane GTPase activator activity|phosphatidylinositol binding breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3) 60 GGAAAGTGACCTTTAGTGAAG 0.338 7 15 --- --- --- --- ARHGAP5 394 broad.mit.edu 37 14 32562152 32562152 + Missense_Mutation SNP C C A TCGA-KK-A8IG-01A-11D-A364-08 TCGA-KK-A8IG-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 082edbc7-1c72-4487-8603-5f20dd332ac3 ab1b5fbe-db21-4790-94c3-f56579040952 g.chr14:32562152C>A ENST00000345122.3 + 2 2592 c.2277C>A c.(2275-2277)caC>caA p.H759Q ARHGAP5_ENST00000433497.1_Intron|ARHGAP5_ENST00000556611.1_Missense_Mutation_p.H759Q|ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000539826.2_Missense_Mutation_p.H759Q|ARHGAP5_ENST00000432921.1_Missense_Mutation_p.H759Q NM_001030055.1 NP_001025226.1 Q13017 RHG05_HUMAN Rho GTPase activating protein 5 759 cell adhesion|Rho protein signal transduction cytosol|membrane GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4) 55 Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186) LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173) GBM - Glioblastoma multiforme(265;0.00566) CAGTTAAACACAATTTGGATG 0.408 19 77 --- --- --- --- SSTR1 6751 broad.mit.edu 37 14 38679570 38679570 + Missense_Mutation SNP C C T TCGA-KK-A8IG-01A-11D-A364-08 TCGA-KK-A8IG-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 082edbc7-1c72-4487-8603-5f20dd332ac3 ab1b5fbe-db21-4790-94c3-f56579040952 g.chr14:38679570C>T ENST00000267377.2 + 3 1593 c.976C>T c.(976-978)Ctc>Ttc p.L326F NM_001049.2 NP_001040.1 P30872 SSR1_HUMAN somatostatin receptor 1 326 digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation|response to nutrient integral to plasma membrane somatostatin receptor activity breast(1)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 29 Hepatocellular(127;0.213)|Esophageal squamous(585;0.22) Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187) GBM - Glioblastoma multiforme(112;0.00444) Octreotide(DB00104) CTATGGCTTTCTCTCAGACAA 0.582 28 58 --- --- --- --- WDR73 84942 broad.mit.edu 37 15 85189499 85189499 + Silent SNP A A G TCGA-KK-A8IG-01A-11D-A364-08 TCGA-KK-A8IG-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 082edbc7-1c72-4487-8603-5f20dd332ac3 ab1b5fbe-db21-4790-94c3-f56579040952 g.chr15:85189499A>G ENST00000434634.2 - 6 493 c.433T>C c.(433-435)Ttg>Ctg p.L145L WDR73_ENST00000398528.3_5'UTR NM_032856.2 NP_116245.2 Q6P4I2 WDR73_HUMAN WD repeat domain 73 145 cervix(1)|large_intestine(1)|lung(1) 3 CCGGGTGCCAATGTGGAGAAG 0.562 6 32 --- --- --- --- ACAN 176 broad.mit.edu 37 15 89392695 89392695 + Missense_Mutation SNP G G C TCGA-KK-A8IG-01A-11D-A364-08 TCGA-KK-A8IG-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 082edbc7-1c72-4487-8603-5f20dd332ac3 ab1b5fbe-db21-4790-94c3-f56579040952 g.chr15:89392695G>C ENST00000439576.2 + 10 2133 c.1759G>C c.(1759-1761)Gag>Cag p.E587Q ACAN_ENST00000559004.1_Missense_Mutation_p.E587Q|ACAN_ENST00000352105.7_Missense_Mutation_p.E587Q|ACAN_ENST00000561243.1_Missense_Mutation_p.E587Q|ACAN_ENST00000558207.1_Missense_Mutation_p.E587Q NM_013227.3 NP_037359.3 E7EX88 E7EX88_HUMAN aggrecan 587 cell adhesion hyaluronic acid binding|sugar binding NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 93 Lung NSC(78;0.0392)|all_lung(78;0.077) BRCA - Breast invasive adenocarcinoma(143;0.146) CACACGCCTTGAGCAGTTCAC 0.632 4 12 --- --- --- --- OTOP2 92736 broad.mit.edu 37 17 72926516 72926516 + Nonsense_Mutation SNP G G A TCGA-KK-A8IG-01A-11D-A364-08 TCGA-KK-A8IG-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 082edbc7-1c72-4487-8603-5f20dd332ac3 ab1b5fbe-db21-4790-94c3-f56579040952 g.chr17:72926516G>A ENST00000331427.4 + 6 878 c.786G>A c.(784-786)tgG>tgA p.W262* OTOP2_ENST00000580223.1_Nonsense_Mutation_p.W262* NM_178160.2 NP_835454.1 Q7RTS6 OTOP2_HUMAN otopetrin 2 262 integral to membrane breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|prostate(4)|skin(1)|urinary_tract(2) 39 all_lung(278;0.172)|Lung NSC(278;0.207) ATGTCATGTGGAAGAATGTGG 0.577 121 123 --- --- --- --- NCCRP1 342897 broad.mit.edu 37 19 39691043 39691043 + Silent SNP G G A TCGA-KK-A8IG-01A-11D-A364-08 TCGA-KK-A8IG-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 082edbc7-1c72-4487-8603-5f20dd332ac3 ab1b5fbe-db21-4790-94c3-f56579040952 g.chr19:39691043G>A ENST00000339852.4 + 5 628 c.606G>A c.(604-606)gcG>gcA p.A202A NM_001001414.1 NP_001001414.1 Q6ZVX7 NCRP1_HUMAN non-specific cytotoxic cell receptor protein 1 homolog (zebrafish) 202 FBA. protein catabolic process kidney(1)|large_intestine(2)|liver(1)|lung(4)|ovary(1)|urinary_tract(1) 10 GGCTGCTGGCGGCCGACCGCC 0.672 10 136 --- --- --- --- TOP1 7150 broad.mit.edu 37 20 39725936 39725936 + Silent SNP T T C TCGA-KK-A8IG-01A-11D-A364-08 TCGA-KK-A8IG-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 082edbc7-1c72-4487-8603-5f20dd332ac3 ab1b5fbe-db21-4790-94c3-f56579040952 g.chr20:39725936T>C ENST00000361337.2 + 10 1057 c.807T>C c.(805-807)acT>acC p.T269T NM_003286.2 NP_003277.1 P11387 TOP1_HUMAN topoisomerase (DNA) I 269 DNA topological change|interspecies interaction between organisms|phosphorylation|programmed cell death|response to drug chromosome|nucleolus|nucleoplasm ATP binding|chromatin DNA binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity|protein binding breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1) 37 Myeloproliferative disorder(115;0.00878) Irinotecan(DB00762)|Lucanthone(DB04967)|Topotecan(DB01030) ATGAATATACTACCAAGGAAA 0.368 T NUP98 AML* 28 62 --- --- --- --- FOXA1 3169 broad.mit.edu 37 14 38061202 38061203 + Frame_Shift_Ins INS - - GCGGC TCGA-KK-A8IG-01A-11D-A364-08 TCGA-KK-A8IG-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 082edbc7-1c72-4487-8603-5f20dd332ac3 ab1b5fbe-db21-4790-94c3-f56579040952 g.chr14:38061202_38061203insGCGGC ENST00000250448.2 - 2 847_848 c.786_787insGCCGC c.(784-789)cgccagfs p.Q263fs FOXA1_ENST00000540786.1_Frame_Shift_Ins_p.Q230fs|FOXA1_ENST00000545425.2_5'UTR NM_004496.3 NP_004487.2 P55317 FOXA1_HUMAN forkhead box A1 263 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) AAGCGCTTCTGGCGGCGCAAGT 0.713 5 8 --- --- --- --- EVPLL 645027 broad.mit.edu 37 17 18286659 18286659 + Frame_Shift_Del DEL G G - TCGA-KK-A8IG-01A-11D-A364-08 TCGA-KK-A8IG-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 082edbc7-1c72-4487-8603-5f20dd332ac3 ab1b5fbe-db21-4790-94c3-f56579040952 g.chr17:18286659delG ENST00000399134.4 + 8 1105 c.747delG c.(745-747)gtgfs p.V249fs RP1-37N7.1_ENST00000579352.1_RNA NM_001145127.1 NP_001138599.1 A8MZ36 EVPLL_HUMAN envoplakin-like 249 NS(1)|endometrium(1)|large_intestine(1)|lung(2) 5 AGCGCATGGTGGAGCTGCGGC 0.711 2 4 --- --- --- ---