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 TLL2 7093 broad.mit.edu 37 10 98144479 98144479 + Missense_Mutation SNP C C T rs141438733 TCGA-FG-7637-01A-11D-2086-08 TCGA-FG-7637-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx aea26718-ba34-444f-9122-0faf73b62ea1 c2346512-f289-4ac1-a8c9-460c4f3f0126 g.chr10:98144479C>T ENST00000357947.3 - 16 2284 c.2059G>A c.(2059-2061)Gac>Aac p.D687N NM_012465.3 NP_036597.1 Q9Y6L7 TLL2_HUMAN tolloid-like 2 687 CUB 3. cell differentiation|multicellular organismal development|proteolysis extracellular region calcium ion binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3) 58 Colorectal(252;0.0846) Epithelial(162;1.51e-07)|all cancers(201;7.59e-06) AGCTTGGCGTCGGGGGACAGG 0.622000 59 100 0 0 1 0 0 LIMA1 51474 broad.mit.edu 37 12 50598436 50598436 + Nonsense_Mutation SNP G G A TCGA-FG-7637-01A-11D-2086-08 TCGA-FG-7637-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx aea26718-ba34-444f-9122-0faf73b62ea1 c2346512-f289-4ac1-a8c9-460c4f3f0126 g.chr12:50598436G>A ENST00000341247.4 - 6 912 c.763C>T c.(763-765)Cga>Tga p.R255* LIMA1_ENST00000394943.3_Nonsense_Mutation_p.R255*|LIMA1_ENST00000552008.1_5'UTR|LIMA1_ENST00000552823.1_Nonsense_Mutation_p.R95*|LIMA1_ENST00000552909.1_Nonsense_Mutation_p.R95*|LIMA1_ENST00000552783.1_Nonsense_Mutation_p.R95* NM_001113546.1|NM_016357.4 NP_001107018.1|NP_057441.1 Q9UHB6 LIMA1_HUMAN LIM domain and actin binding 1 255 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 TCCAGATTTCGTCTACTCTCA 0.423000 52 63 0 0 1 0 0 C12orf50 160419 broad.mit.edu 37 12 88390403 88390403 + Missense_Mutation SNP T T C TCGA-FG-7637-01A-11D-2086-08 TCGA-FG-7637-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx aea26718-ba34-444f-9122-0faf73b62ea1 c2346512-f289-4ac1-a8c9-460c4f3f0126 g.chr12:88390403T>C ENST00000298699.2 - 5 490 c.310A>G c.(310-312)Aag>Gag p.K104E C12orf50_ENST00000550553.1_Missense_Mutation_p.K104E NM_152589.1 NP_689802.1 Q8NA57 CL050_HUMAN chromosome 12 open reading frame 50 104 NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|urinary_tract(2) 34 TCAGGGGTCTTTGTCCATAAA 0.289000 9 44 0 0 1 0 0 MUC2 4583 broad.mit.edu 37 11 1087506 1087506 + Missense_Mutation SNP G G A TCGA-FG-7637-01A-11D-2086-08 TCGA-FG-7637-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx aea26718-ba34-444f-9122-0faf73b62ea1 c2346512-f289-4ac1-a8c9-460c4f3f0126 g.chr11:1087506G>A ENST00000441003.2 + 24 3284 c.3257G>A c.(3256-3258)gGg>gAg p.G1086E MUC2_ENST00000359061.5_Missense_Mutation_p.G1086E NM_002457.2 NP_002448.2 Q02817 MUC2_HUMAN mucin 2, oligomeric mucus/gel-forming 1086 inner mucus layer|outer mucus layer protein binding NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 102 all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191) BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) Pranlukast(DB01411) GACACGGGTGGGGACTGTGAG 0.652000 15 26 0 0 1 0 0 TEK 7010 broad.mit.edu 37 9 27172734 27172734 + Missense_Mutation SNP C C T TCGA-FG-7637-01A-11D-2086-08 TCGA-FG-7637-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx aea26718-ba34-444f-9122-0faf73b62ea1 c2346512-f289-4ac1-a8c9-460c4f3f0126 g.chr9:27172734C>T ENST00000380036.4 + 5 1191 c.749C>T c.(748-750)aCg>aTg p.T250M TEK_ENST00000519097.1_Missense_Mutation_p.T146M|TEK_ENST00000406359.4_Missense_Mutation_p.T250M NM_000459.3 NP_000450.2 Q02763 TIE2_HUMAN TEK tyrosine kinase, endothelial 250 EGF-like 1. angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3) 15 all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255) Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027) ATGGGAAGGACGTGTGAGAAG 0.433000 3 51 0 0 1 0 0 TTC30A 92104 broad.mit.edu 37 2 178482180 178482180 + Missense_Mutation SNP T T C TCGA-FG-7637-01A-11D-2086-08 TCGA-FG-7637-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx aea26718-ba34-444f-9122-0faf73b62ea1 c2346512-f289-4ac1-a8c9-460c4f3f0126 g.chr2:178482180T>C ENST00000355689.4 - 1 1514 c.1250A>G c.(1249-1251)gAt>gGt p.D417G AC073834.3_ENST00000357045.4_RNA NM_152275.3 NP_689488.3 Q86WT1 TT30A_HUMAN tetratricopeptide repeat domain 30A 417 cell projection organization cilium binding autonomic_ganglia(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 30 OV - Ovarian serous cystadenocarcinoma(117;0.000423)|Epithelial(96;0.00373)|all cancers(119;0.0169) CATGGTTTCATCATATTCATT 0.423000 8 240 0 0 1 0 0 OR5D18 219438 broad.mit.edu 37 11 55587473 55587473 + Missense_Mutation SNP G G A TCGA-FG-7637-01A-11D-2086-08 TCGA-FG-7637-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx aea26718-ba34-444f-9122-0faf73b62ea1 c2346512-f289-4ac1-a8c9-460c4f3f0126 g.chr11:55587473G>A ENST00000333976.4 + 1 388 c.368G>A c.(367-369)cGc>cAc p.R123H NM_001001952.1 NP_001001952.1 Q8NGL1 OR5DI_HUMAN olfactory receptor, family 5, subfamily D, member 18 123 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 all_epithelial(135;0.208) GCCTATGACCGCTTCGTGGCC 0.458000 39 124 0 0 1 0 0 MGEA5 10724 broad.mit.edu 37 10 103577687 103577687 + Silent SNP C C A TCGA-FG-7637-01A-11D-2086-08 TCGA-FG-7637-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx aea26718-ba34-444f-9122-0faf73b62ea1 c2346512-f289-4ac1-a8c9-460c4f3f0126 g.chr10:103577687C>A ENST00000361464.3 - 1 488 c.93G>T c.(91-93)ccG>ccT p.P31P MGEA5_ENST00000357797.5_Silent_p.P31P|MGEA5_ENST00000439817.1_Silent_p.P31P|MGEA5_ENST00000419011.2_Silent_p.P31P|MGEA5_ENST00000370094.3_Silent_p.P31P NM_012215.3 NP_036347.1 O60502 NCOAT_HUMAN meningioma expressed antigen 5 (hyaluronidase) 31 glycoprotein catabolic process cytoplasm|nucleus histone acetyltransferase activity|hyalurononglucosaminidase activity central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|urinary_tract(1) 23 Colorectal(252;0.207) Epithelial(162;4.67e-09)|all cancers(201;2.54e-07) GAGCTGCCGGCGGCTCCAGCG 0.726000 8 7 0.000157383 0.000170778 1 1 0 CUEDC2 79004 broad.mit.edu 37 10 104184887 104184887 + Missense_Mutation SNP G G A TCGA-FG-7637-01A-11D-2086-08 TCGA-FG-7637-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx aea26718-ba34-444f-9122-0faf73b62ea1 c2346512-f289-4ac1-a8c9-460c4f3f0126 g.chr10:104184887G>A ENST00000369937.4 - 2 204 c.59C>T c.(58-60)cCg>cTg p.P20L NM_024040.2 NP_076945.2 Q9H467 CUED2_HUMAN CUE domain containing 2 20 cytoplasm|nucleus protein binding autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(1)|stomach(1)|upper_aerodigestive_tract(1) 8 Colorectal(252;0.122) Epithelial(162;9.17e-09)|all cancers(201;2.16e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215) GTCGGCCTCCGGGAGGTGTGT 0.602000 6 74 0 0 1 0 0 TUBB8P7 0 broad.mit.edu 37 16 90161926 90161926 + RNA SNP T T C rs8061283 by1000genomes TCGA-FG-7637-01A-11D-2086-08 TCGA-FG-7637-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx aea26718-ba34-444f-9122-0faf73b62ea1 c2346512-f289-4ac1-a8c9-460c4f3f0126 g.chr16:90161926T>C ENST00000567960.1 + 0 662 TUBB8P7_ENST00000564451.1_RNA p.I221T(3) CCCACACCCATCTATGGTGAC 0.527000 3 27 0 0 1 0 0 PIGZ 80235 broad.mit.edu 37 3 196675277 196675277 + Missense_Mutation SNP C C A TCGA-FG-7637-01A-11D-2086-08 TCGA-FG-7637-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx aea26718-ba34-444f-9122-0faf73b62ea1 c2346512-f289-4ac1-a8c9-460c4f3f0126 g.chr3:196675277C>A ENST00000412723.1 - 3 637 c.491G>T c.(490-492)gGt>gTt p.G164V PIGZ_ENST00000443835.1_Intron NM_025163.2 NP_079439.2 Q86VD9 PIGZ_HUMAN phosphatidylinositol glycan anchor biosynthesis, class Z 164 GPI anchor biosynthetic process integral to membrane|intrinsic to endoplasmic reticulum membrane alpha-1,2-mannosyltransferase activity breast(1)|endometrium(1)|lung(7)|ovary(3)|prostate(1)|urinary_tract(1) 14 all_cancers(143;1.05e-08)|Ovarian(172;0.0634)|Breast(254;0.0838) Epithelial(36;4.29e-24)|all cancers(36;2.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00603) GACGTAGGAACCAGACAGCAG 0.617000 8 27 0.000673444 0.000715534 1 1 0 RAB34 83871 broad.mit.edu 37 17 27042713 27042713 + Missense_Mutation SNP C C T TCGA-FG-7637-01A-11D-2086-08 TCGA-FG-7637-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx aea26718-ba34-444f-9122-0faf73b62ea1 c2346512-f289-4ac1-a8c9-460c4f3f0126 g.chr17:27042713C>T ENST00000395245.3 - 5 951 c.325G>A c.(325-327)Gct>Act p.A109T RAB34_ENST00000447716.1_Missense_Mutation_p.A166T|RAB34_ENST00000395243.3_Missense_Mutation_p.A109T|RAB34_ENST00000436730.3_Missense_Mutation_p.A109T|RAB34_ENST00000453384.3_Missense_Mutation_p.A167T|RAB34_ENST00000450529.1_Missense_Mutation_p.A109T|RAB34_ENST00000395242.2_Missense_Mutation_p.A110T|RAB34_ENST00000415040.2_Missense_Mutation_p.A87T|RAB34_ENST00000301043.6_Missense_Mutation_p.A109T NM_001256281.1|NM_031934.5 NP_001243210.1|NP_114140.4 Q9BZG1 RAB34_HUMAN RAB34, member RAS oncogene family 109 protein transport|small GTPase mediated signal transduction Golgi apparatus GTP binding endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|skin(2) 14 Lung NSC(42;0.00431) TCCTGCCCAGCGGTATCCCAA 0.547000 5 175 0 0 1 0 0 INPPL1 3636 broad.mit.edu 37 11 71942617 71942617 + Missense_Mutation SNP G G A TCGA-FG-7637-01A-11D-2086-08 TCGA-FG-7637-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx aea26718-ba34-444f-9122-0faf73b62ea1 c2346512-f289-4ac1-a8c9-460c4f3f0126 g.chr11:71942617G>A ENST00000298229.2 + 13 1777 c.1573G>A c.(1573-1575)Gtc>Atc p.V525I INPPL1_ENST00000538751.1_Missense_Mutation_p.V283I|INPPL1_ENST00000541756.1_Missense_Mutation_p.V283I NM_001567.3 NP_001558.3 O15357 SHIP2_HUMAN inositol polyphosphate phosphatase-like 1 525 actin filament organization|cell adhesion|endocytosis actin cortical patch|cytosol actin binding|SH2 domain binding|SH3 domain binding breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 44 TATCAGCCATGTCAGTACGTC 0.562000 29 58 0 0 1 0 0 RAB11FIP1 80223 broad.mit.edu 37 8 37730001 37730001 + Silent SNP G G A TCGA-FG-7637-01A-11D-2086-08 TCGA-FG-7637-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx aea26718-ba34-444f-9122-0faf73b62ea1 c2346512-f289-4ac1-a8c9-460c4f3f0126 g.chr8:37730001G>A ENST00000330843.4 - 4 2331 c.2319C>T c.(2317-2319)ccC>ccT p.P773P RAB11FIP1_ENST00000523182.1_5'UTR|RAB11FIP1_ENST00000522727.1_Intron|RAB11FIP1_ENST00000524118.1_Intron|RAB11FIP1_ENST00000287263.4_Intron NM_001002814.2 NP_001002814.2 Q6WKZ4 RFIP1_HUMAN RAB11 family interacting protein 1 (class I) 773 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) TGGGAAGAGGGGGCGCCACTT 0.557000 27 61 0 0 1 0 0 ARID1A 8289 broad.mit.edu 37 1 27100381 27100381 + Nonsense_Mutation SNP C C T TCGA-FG-7637-01A-11D-2086-08 TCGA-FG-7637-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx aea26718-ba34-444f-9122-0faf73b62ea1 c2346512-f289-4ac1-a8c9-460c4f3f0126 g.chr1:27100381C>T ENST00000324856.7 + 17 4464 c.4093C>T c.(4093-4095)Caa>Taa p.Q1365* ARID1A_ENST00000457599.2_Nonsense_Mutation_p.Q1365*|ARID1A_ENST00000540690.1_5'UTR|ARID1A_ENST00000374152.2_Nonsense_Mutation_p.Q982* NM_006015.4 NP_006006.3 O14497 ARI1A_HUMAN AT rich interactive domain 1A (SWI-like) 1365 Gln-rich. androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent nBAF complex|npBAF complex|SWI/SNF complex DNA binding|protein binding ARID1A/MAST2_ENST00000361297(2) NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24) 411 all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242) GTATCAACAGCAACAGCAGGT 0.498000 """Mis, N, F, S, D""" """clear cell ovarian carcinoma, RCC""" 52 99 0 0 1 0 0 BAG6 7917 broad.mit.edu 37 6 31612853 31612853 + Missense_Mutation SNP A A C TCGA-FG-7637-01A-11D-2086-08 TCGA-FG-7637-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx aea26718-ba34-444f-9122-0faf73b62ea1 c2346512-f289-4ac1-a8c9-460c4f3f0126 g.chr6:31612853A>C ENST00000404765.2 - 10 1528 c.1239T>G c.(1237-1239)aaT>aaG p.N413K BAG6_ENST00000375976.4_Missense_Mutation_p.N413K|BAG6_ENST00000439687.2_Missense_Mutation_p.N413K|BAG6_ENST00000375964.6_Missense_Mutation_p.N419K|BAG6_ENST00000211379.5_Missense_Mutation_p.N413K|BAG6_ENST00000362049.6_Missense_Mutation_p.N413K P46379 BAG6_HUMAN BCL2-associated athanogene 6 419 4 X 29 AA approximate repeats.|Pro-rich. apoptosis in response to endoplasmic reticulum stress|brain development|cell differentiation|chromatin modification|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|embryo development|internal peptidyl-lysine acetylation|kidney development|lung development|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|protein stabilization|spermatogenesis|synaptonemal complex assembly|tail-anchored membrane protein insertion into ER membrane|transport|ubiquitin-dependent protein catabolic process BAT3 complex|nucleus polyubiquitin binding|proteasome binding|ribosome binding breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(2)|pancreas(2)|skin(3)|urinary_tract(2) 36 AGGACTCGACATTGGTAGAAG 0.662000 55 71 0 0 1 0 0 PKD1L1 168507 broad.mit.edu 37 7 47882609 47882609 + Missense_Mutation SNP G G A TCGA-FG-7637-01A-11D-2086-08 TCGA-FG-7637-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx aea26718-ba34-444f-9122-0faf73b62ea1 c2346512-f289-4ac1-a8c9-460c4f3f0126 g.chr7:47882609G>A ENST00000289672.2 - 34 5446 c.5396C>T c.(5395-5397)gCg>gTg p.A1799V NM_138295.3 NP_612152.1 Q8TDX9 PK1L1_HUMAN polycystic kidney disease 1 like 1 1799 PLAT. cell-cell adhesion integral to membrane BBS9/PKD1L1(2) NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5) 142 AATGACGACCGCATATAGCTG 0.483000 3 68 0 0 1 0 0 SEL1L 6400 broad.mit.edu 37 14 81946063 81946063 + Missense_Mutation SNP A A C TCGA-FG-7637-01A-11D-2086-08 TCGA-FG-7637-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx aea26718-ba34-444f-9122-0faf73b62ea1 c2346512-f289-4ac1-a8c9-460c4f3f0126 g.chr14:81946063A>C ENST00000336735.4 - 20 2184 c.2068T>G c.(2068-2070)Ttt>Gtt p.F690V NM_005065.5 NP_005056.3 Q9UBV2 SE1L1_HUMAN sel-1 suppressor of lin-12-like (C. elegans) 690 Interaction with ERLEC1, OS9 and SYVN1. Notch signaling pathway endoplasmic reticulum membrane|integral to membrane protein binding breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3) 28 BRCA - Breast invasive adenocarcinoma(234;0.0299) ATGTCATAAAAACGTTTCGCA 0.383000 11 50 0 0 1 0 0 OR2G6 391211 broad.mit.edu 37 1 248685220 248685220 + Silent SNP C C T TCGA-FG-7637-01A-11D-2086-08 TCGA-FG-7637-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx aea26718-ba34-444f-9122-0faf73b62ea1 c2346512-f289-4ac1-a8c9-460c4f3f0126 g.chr1:248685220C>T ENST00000343414.4 + 1 305 c.273C>T c.(271-273)acC>acT p.T91T NM_001013355.1 NP_001013373.1 Q5TZ20 OR2G6_HUMAN olfactory receptor, family 2, subfamily G, member 6 91 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.T91T(1) NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 61 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) all_cancers(173;0.0156) OV - Ovarian serous cystadenocarcinoma(106;0.0265) AAGACAAAACCATGAGCTACG 0.517000 55 86 0 0 1 0 0 FTCD 10841 broad.mit.edu 37 21 47574183 47574183 + Missense_Mutation SNP C C T TCGA-FG-7637-01A-11D-2086-08 TCGA-FG-7637-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx aea26718-ba34-444f-9122-0faf73b62ea1 c2346512-f289-4ac1-a8c9-460c4f3f0126 g.chr21:47574183C>T ENST00000397748.1 - 2 161 c.118G>A c.(118-120)Gca>Aca p.A40T FTCD_ENST00000291670.5_Missense_Mutation_p.A40T|FTCD_ENST00000359679.2_Missense_Mutation_p.A40T|FTCD_ENST00000397746.3_Missense_Mutation_p.A40T|FTCD_ENST00000397743.1_Missense_Mutation_p.A40T|FTCD_ENST00000355384.2_Missense_Mutation_p.A40T|FTCD_ENST00000498355.2_5'UTR O95954 FTCD_HUMAN formimidoyltransferase cyclodeaminase 40 Formiminotransferase N-subdomain (By similarity). folic acid-containing compound metabolic process|histidine catabolic process centriole|cytosol|Golgi apparatus folic acid binding|formimidoyltetrahydrofolate cyclodeaminase activity|glutamate formimidoyltransferase activity endometrium(1)|large_intestine(2)|lung(9)|pancreas(1)|prostate(3)|skin(3) 19 Breast(49;0.214) Colorectal(79;0.235) L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116) GAAGGGCCTGCGTCCACATCC 0.677000 3 44 0 0 1 0 0 CCR9 10803 broad.mit.edu 37 3 45942529 45942529 + Silent SNP C C T TCGA-FG-7637-01A-11D-2086-08 TCGA-FG-7637-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx aea26718-ba34-444f-9122-0faf73b62ea1 c2346512-f289-4ac1-a8c9-460c4f3f0126 g.chr3:45942529C>T ENST00000357632.2 + 3 429 c.249C>T c.(247-249)acC>acT p.T83T CCR9_ENST00000395963.2_Silent_p.T71T|CCR9_ENST00000355983.2_Silent_p.T71T|CCR9_ENST00000422395.1_3'UTR|LZTFL1_ENST00000536047.1_Intron|LZTFL1_ENST00000539217.1_Intron NM_001256369.1|NM_031200.2 NP_001243298.1|NP_112477.1 P51686 CCR9_HUMAN chemokine (C-C motif) receptor 9 83 cellular defense response|chemotaxis|elevation of cytosolic calcium ion concentration|immune response integral to plasma membrane breast(1)|endometrium(4)|large_intestine(8)|lung(2)|ovary(2)|prostate(2)|skin(1) 20 BRCA - Breast invasive adenocarcinoma(193;0.00118)|KIRC - Kidney renal clear cell carcinoma(197;0.0182)|Kidney(197;0.0214) AGACCATGACCGACATGTTCC 0.507000 12 278 0 0 1 0 0 DST 667 broad.mit.edu 37 6 56483940 56483940 + Missense_Mutation SNP T T G TCGA-FG-7637-01A-11D-2086-08 TCGA-FG-7637-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx aea26718-ba34-444f-9122-0faf73b62ea1 c2346512-f289-4ac1-a8c9-460c4f3f0126 g.chr6:56483940T>G ENST00000370765.6 - 23 4999 c.4892A>C c.(4891-4893)cAc>cCc p.H1631P DST_ENST00000370769.4_Intron|DST_ENST00000370754.5_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000361203.3_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000312431.6_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000446842.2_Intron NM_001723.5 NP_001714.1 Q03001 DYST_HUMAN dystonin 5303 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) TTTATGCAAGTGTTCATTTGT 0.348000 21 134 0 0 1 0 0 KIF20A 10112 broad.mit.edu 37 5 137521298 137521298 + Missense_Mutation SNP G G A TCGA-FG-7637-01A-11D-2086-08 TCGA-FG-7637-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx aea26718-ba34-444f-9122-0faf73b62ea1 c2346512-f289-4ac1-a8c9-460c4f3f0126 g.chr5:137521298G>A ENST00000394894.3 + 16 2250 c.2024G>A c.(2023-2025)cGg>cAg p.R675Q KIF20A_ENST00000508792.1_Missense_Mutation_p.R657Q NM_005733.2 NP_005724.1 O95235 KI20A_HUMAN kinesin family member 20A 675 cytokinesis|M phase of mitotic cell cycle|microtubule-based movement|protein transport|vesicle-mediated transport Golgi apparatus|microtubule|nucleoplasm ATP binding|microtubule motor activity|protein binding|transporter activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|liver(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(1) 27 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109) TTGGCCCTACGGCGGTCACAA 0.507000 45 115 0 0 1 0 0 IDH1 3417 broad.mit.edu 37 2 209113112 209113112 + Missense_Mutation SNP C C T rs121913500 TCGA-FG-7637-01A-11D-2086-08 TCGA-FG-7637-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx aea26718-ba34-444f-9122-0faf73b62ea1 c2346512-f289-4ac1-a8c9-460c4f3f0126 g.chr2:209113112C>T ENST00000415913.1 - 4 776 c.395G>A c.(394-396)cGt>cAt p.R132H IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H O75874 IDHC_HUMAN isocitrate dehydrogenase 1 (NADP+), soluble 132 R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). 2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle cytosol|peroxisomal matrix isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1) NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1) 4887 Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136) ATAAGCATGACGACCTATGAT 0.393000 Mis gliobastoma 38 43 0 0 1 0 0 FRAS1 80144 broad.mit.edu 37 4 79204003 79204003 + Nonsense_Mutation SNP C C A TCGA-FG-7637-01A-11D-2086-08 TCGA-FG-7637-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx aea26718-ba34-444f-9122-0faf73b62ea1 c2346512-f289-4ac1-a8c9-460c4f3f0126 g.chr4:79204003C>A ENST00000264895.6 + 12 1577 c.1137C>A c.(1135-1137)tgC>tgA p.C379* FRAS1_ENST00000264899.6_Nonsense_Mutation_p.C379*|FRAS1_ENST00000325942.6_Nonsense_Mutation_p.C379* NM_025074.6 NP_079350.5 Q86XX4 FRAS1_HUMAN Fraser syndrome 1 379 VWFC 6. cell communication integral to membrane|plasma membrane metal ion binding breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4) 103 ATGGCCCTTGCAAGGTGTGTG 0.532000 7 117 0.00307968 0.00320538 1 1 0 TRMT13 54482 broad.mit.edu 37 1 100613719 100613719 + Missense_Mutation SNP T T G TCGA-FG-7637-01A-11D-2086-08 TCGA-FG-7637-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx aea26718-ba34-444f-9122-0faf73b62ea1 c2346512-f289-4ac1-a8c9-460c4f3f0126 g.chr1:100613719T>G ENST00000370141.2 + 10 1093 c.1087T>G c.(1087-1089)Tat>Gat p.Y363D NM_019083.2 NP_061956.2 tRNA methyltransferase 13 homolog (S. cerevisiae) GGAATTCCATTATTTCCAGCG 0.428000 34 9 0 0 1 0 0 KIF26B 55083 broad.mit.edu 37 1 245530297 245530297 + Silent SNP C C T TCGA-FG-7637-01A-11D-2086-08 TCGA-FG-7637-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx aea26718-ba34-444f-9122-0faf73b62ea1 c2346512-f289-4ac1-a8c9-460c4f3f0126 g.chr1:245530297C>T ENST00000407071.2 + 3 1067 c.627C>T c.(625-627)gcC>gcT p.A209A KIF26B_ENST00000479506.1_3'UTR NM_018012.3 NP_060482.2 Q2KJY2 KI26B_HUMAN kinesin family member 26B 209 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 51 all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127) OV - Ovarian serous cystadenocarcinoma(106;0.022) AGCAGGCAGCCGGCAGTGAGC 0.657000 4 35 0 0 1 0 0 NPNT 255743 broad.mit.edu 37 4 106890076 106890076 + Missense_Mutation SNP C C A rs139540458 TCGA-FG-7637-01A-11D-2086-08 TCGA-FG-7637-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx aea26718-ba34-444f-9122-0faf73b62ea1 c2346512-f289-4ac1-a8c9-460c4f3f0126 g.chr4:106890076C>A ENST00000379987.2 + 12 1843 c.1627C>A c.(1627-1629)Cgt>Agt p.R543S NPNT_ENST00000453617.2_Missense_Mutation_p.R560S|NPNT_ENST00000427316.2_Missense_Mutation_p.R573S|NPNT_ENST00000514622.1_Missense_Mutation_p.R514S|NPNT_ENST00000506666.1_Missense_Mutation_p.R544S|NPNT_ENST00000305572.8_Intron NM_001033047.2 NP_001028219.1 Q6UXI9 NPNT_HUMAN nephronectin 543 MAM. cell differentiation membrane calcium ion binding kidney(5)|large_intestine(2)|lung(10)|prostate(2)|skin(1)|urinary_tract(1) 21 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;5.41e-07) TGAAAAAAGGCGTGGTCACAC 0.448000 14 16 2.31682e-05 2.56865e-05 1 1 0 SYT2 127833 broad.mit.edu 37 1 202568369 202568369 + Missense_Mutation SNP C C T TCGA-FG-7637-01A-11D-2086-08 TCGA-FG-7637-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx aea26718-ba34-444f-9122-0faf73b62ea1 c2346512-f289-4ac1-a8c9-460c4f3f0126 g.chr1:202568369C>T ENST00000367267.1 - 8 1222 c.1030G>A c.(1030-1032)Gag>Aag p.E344K SYT2_ENST00000367268.4_Missense_Mutation_p.E344K NM_001136504.1 NP_001129976.1 Q8N9I0 SYT2_HUMAN synaptotagmin II 344 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 p.E344Q(1) 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) AAGGGGATCTCAAAGCTGAAG 0.522000 5 189 0 0 1 0 0 MST1L 0 broad.mit.edu 37 1 17085189 17085189 + RNA SNP A A G TCGA-FG-7637-01A-11D-2086-08 TCGA-FG-7637-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx aea26718-ba34-444f-9122-0faf73b62ea1 c2346512-f289-4ac1-a8c9-460c4f3f0126 g.chr1:17085189A>G ENST00000455405.2 - 0 87 p.S428P(1) TCCAGGATTGATGGCGGCTGG 0.572000 3 28 0 0 1 0 0 ACVR1C 130399 broad.mit.edu 37 2 158401021 158401021 + Silent SNP G G A TCGA-FG-7637-01A-11D-2086-08 TCGA-FG-7637-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx aea26718-ba34-444f-9122-0faf73b62ea1 c2346512-f289-4ac1-a8c9-460c4f3f0126 g.chr2:158401021G>A ENST00000243349.7 - 5 1239 c.879C>T c.(877-879)atC>atT p.I293I ACVR1C_ENST00000348328.5_Silent_p.I136I|ACVR1C_ENST00000409680.3_Silent_p.I243I|ACVR1C_ENST00000335450.7_Silent_p.I213I NM_145259.2 NP_660302.2 Q8NER5 ACV1C_HUMAN activin A receptor, type IC 293 Protein kinase. apoptosis|cell differentiation|regulation of apoptosis activin receptor complex activin receptor activity, type I|ATP binding|transforming growth factor beta receptor activity NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 42 GCGCCAGCTTGATCATTCCAG 0.398000 4 117 0 0 1 0 0 TOM1 10043 broad.mit.edu 37 22 35726358 35726358 + Missense_Mutation SNP C C G TCGA-FG-7637-01A-11D-2086-08 TCGA-FG-7637-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx aea26718-ba34-444f-9122-0faf73b62ea1 c2346512-f289-4ac1-a8c9-460c4f3f0126 g.chr22:35726358C>G ENST00000382034.5 + 9 925 c.583C>G c.(583-585)Cga>Gga p.R195G TOM1_ENST00000425375.1_Missense_Mutation_p.R217G|TOM1_ENST00000411850.1_Missense_Mutation_p.R262G|TOM1_ENST00000449058.2_Missense_Mutation_p.R262G|TOM1_ENST00000436462.2_Missense_Mutation_p.R224G|TOM1_ENST00000447733.1_Missense_Mutation_p.R229G O60784 TOM1_HUMAN target of myb1 (chicken) 262 endocytosis|endosome transport|intracellular protein transport cytosol|early endosome|membrane protein binding NS(1)|breast(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(2) 19 CCGCACGTGCCGAGCCATGCA 0.537000 88 77 0 0 1 0 0 SRPK2 6733 broad.mit.edu 37 7 104783594 104783594 + Missense_Mutation SNP C C T TCGA-FG-7637-01A-11D-2086-08 TCGA-FG-7637-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx aea26718-ba34-444f-9122-0faf73b62ea1 c2346512-f289-4ac1-a8c9-460c4f3f0126 g.chr7:104783594C>T ENST00000357311.3 - 9 1135 c.964G>A c.(964-966)Gag>Aag p.E322K SRPK2_ENST00000393651.3_Missense_Mutation_p.E333K|SRPK2_ENST00000489828.1_Missense_Mutation_p.E322K NM_001278273.1|NM_182691.1 NP_001265202.1|NP_872633.1 P78362 SRPK2_HUMAN SRSF protein kinase 2 322 Protein kinase. angiogenesis|cell differentiation|intracellular protein kinase cascade|negative regulation of viral genome replication|nuclear speck organization|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of gene expression|positive regulation of neuron apoptosis|positive regulation of viral genome replication|spliceosome assembly cytoplasm|nucleolus 14-3-3 protein binding|ATP binding|magnesium ion binding|protein serine/threonine kinase activity NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(11)|large_intestine(6)|lung(4)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 35 AGTTTCACCTCTGGGCAGTAT 0.498000 14 83 0 0 1 0 0 PPP2CA 5515 broad.mit.edu 37 5 133534841 133534841 + Missense_Mutation SNP A A T TCGA-FG-7637-01A-11D-2086-08 TCGA-FG-7637-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx aea26718-ba34-444f-9122-0faf73b62ea1 c2346512-f289-4ac1-a8c9-460c4f3f0126 g.chr5:133534841A>T ENST00000481195.1 - 6 1073 c.793T>A c.(793-795)Tat>Aat p.Y265N NM_002715.2 NP_002706.1 protein phosphatase 2, catalytic subunit, alpha isozyme endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|skin(1) 12 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) CGATAACAATAGTTTGGAGCA 0.373000 11 93 0 0 1 0 0 TMEM87B 84910 broad.mit.edu 37 2 112813196 112813196 + Missense_Mutation SNP G G T TCGA-FG-7637-01A-11D-2086-08 TCGA-FG-7637-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx aea26718-ba34-444f-9122-0faf73b62ea1 c2346512-f289-4ac1-a8c9-460c4f3f0126 g.chr2:112813196G>T ENST00000283206.4 + 1 397 c.28G>T c.(28-30)Ggg>Tgg p.G10W NM_032824.2 NP_116213.1 Q96K49 TM87B_HUMAN transmembrane protein 87B 10 integral to membrane breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(11)|ovary(1) 19 CTCGGTAGCCGGGCTCCTGCC 0.761000 2 6 1 1 1 1 0 GPR180 160897 broad.mit.edu 37 13 95273351 95273351 + Silent SNP A A G TCGA-FG-7637-01A-11D-2086-08 TCGA-FG-7637-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx aea26718-ba34-444f-9122-0faf73b62ea1 c2346512-f289-4ac1-a8c9-460c4f3f0126 g.chr13:95273351A>G ENST00000376958.4 + 6 781 c.756A>G c.(754-756)caA>caG p.Q252Q NM_180989.5 NP_851320.1 Q86V85 GP180_HUMAN G protein-coupled receptor 180 252 integral to membrane breast(1)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1) 10 all_neural(89;0.0684)|Medulloblastoma(90;0.163) TCGCTTCCCAAATTCAGATGT 0.373000 9 42 0 0 1 0 0 HEATR1 55127 broad.mit.edu 37 1 236738051 236738051 + Silent SNP C C T rs142628625 byFrequency TCGA-FG-7637-01A-11D-2086-08 TCGA-FG-7637-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx aea26718-ba34-444f-9122-0faf73b62ea1 c2346512-f289-4ac1-a8c9-460c4f3f0126 g.chr1:236738051C>T ENST00000366582.3 - 23 3351 c.3237G>A c.(3235-3237)ccG>ccA p.P1079P HEATR1_ENST00000366581.2_Intron NM_018072.5 NP_060542.4 Q9H583 HEAT1_HUMAN HEAT repeat containing 1 1079 rRNA processing nucleolus|ribonucleoprotein complex protein binding NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3) 87 Ovarian(103;0.0634)|Breast(184;0.133) all_cancers(173;0.0255)|Prostate(94;0.175) OV - Ovarian serous cystadenocarcinoma(106;0.00117) CTAGACTCTTCGGATCCTCAT 0.423000 27 41 0 0 1 0 0 PTPN23 25930 broad.mit.edu 37 3 47447437 47447437 + Nonsense_Mutation SNP C C A TCGA-FG-7637-01A-11D-2086-08 TCGA-FG-7637-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx aea26718-ba34-444f-9122-0faf73b62ea1 c2346512-f289-4ac1-a8c9-460c4f3f0126 g.chr3:47447437C>A ENST00000265562.4 + 6 524 c.447C>A c.(445-447)tgC>tgA p.C149* PTPN23_ENST00000431726.1_Nonsense_Mutation_p.C23* NM_015466.2 NP_056281.1 Q9H3S7 PTN23_HUMAN protein tyrosine phosphatase, non-receptor type 23 149 BRO1. cilium morphogenesis cilium|cytoplasmic membrane-bounded vesicle|microtubule basal body protein tyrosine phosphatase activity breast(3)|central_nervous_system(1)|large_intestine(5)|lung(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 23 BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) ATTTCCAGTGCGCAGCCGGCG 0.597000 4 42 0.014758 0.0150532 1 1 0 MYT1 4661 broad.mit.edu 37 20 62839353 62839353 + Silent SNP A A G TCGA-FG-7637-01A-11D-2086-08 TCGA-FG-7637-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx aea26718-ba34-444f-9122-0faf73b62ea1 c2346512-f289-4ac1-a8c9-460c4f3f0126 g.chr20:62839353A>G ENST00000536311.1 + 7 1168 c.804A>G c.(802-804)gaA>gaG p.E268E MYT1_ENST00000328439.1_Silent_p.E268E|MYT1_ENST00000360149.4_Intron Q01538 MYT1_HUMAN myelin transcription factor 1 268 Glu-rich. cell differentiation|nervous system development nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.E268E(2) breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09) aggaggaggaagaggaggagg 0.572000 3 18 0 0 1 0 0 NLE1 54475 broad.mit.edu 37 17 33464163 33464163 + Missense_Mutation SNP G G A TCGA-FG-7637-01A-11D-2086-08 TCGA-FG-7637-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx aea26718-ba34-444f-9122-0faf73b62ea1 c2346512-f289-4ac1-a8c9-460c4f3f0126 g.chr17:33464163G>A ENST00000442241.4 - 7 724 c.685C>T c.(685-687)Cgg>Tgg p.R229W NLE1_ENST00000360831.5_Missense_Mutation_p.R187W|NLE1_ENST00000586869.1_5'UTR|NLE1_ENST00000593176.1_5'UTR NM_001014445.1|NM_018096.3 NP_001014445.1|NP_060566.2 Q9NVX2 NLE1_HUMAN notchless homolog 1 (Drosophila) 229 nucleolus NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(2) 22 Ovarian(249;0.17) TCCCAGATCCGCACACTGCCA 0.617000 18 32 0 0 1 0 0 RFX6 222546 broad.mit.edu 37 6 117246787 117246787 + Missense_Mutation SNP T T A TCGA-FG-7637-01A-11D-2086-08 TCGA-FG-7637-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx aea26718-ba34-444f-9122-0faf73b62ea1 c2346512-f289-4ac1-a8c9-460c4f3f0126 g.chr6:117246787T>A ENST00000332958.2 + 16 1866 c.1850T>A c.(1849-1851)tTc>tAc p.F617Y NM_173560.3 NP_775831.2 Q8HWS3 RFX6_HUMAN regulatory factor X, 6 617 glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation nucleus protein binding|transcription regulatory region DNA binding cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 59 CTGCACCAGTTCCCTGCTGGG 0.532000 6 58 0 0 1 0 0 ANKRD26 22852 broad.mit.edu 37 10 27381396 27381396 + Missense_Mutation SNP G G C TCGA-FG-7637-01A-11D-2086-08 TCGA-FG-7637-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx aea26718-ba34-444f-9122-0faf73b62ea1 c2346512-f289-4ac1-a8c9-460c4f3f0126 g.chr10:27381396G>C ENST00000376087.4 - 4 742 c.577C>G c.(577-579)Caa>Gaa p.Q193E ANKRD26_ENST00000436985.2_Missense_Mutation_p.Q193E NM_001256053.1|NM_014915.2 NP_001242982.1|NP_055730.2 Q9UPS8 ANR26_HUMAN ankyrin repeat domain 26 193 centrosome breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2) 70 TCCACCATTTGCTGCTTTTTT 0.323000 6 23 0 0 1 0 0 ABCA3 21 broad.mit.edu 37 16 2374516 2374516 + Silent SNP G G A rs138952710 by1000genomes TCGA-FG-7637-01A-11D-2086-08 TCGA-FG-7637-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx aea26718-ba34-444f-9122-0faf73b62ea1 c2346512-f289-4ac1-a8c9-460c4f3f0126 g.chr16:2374516G>A ENST00000301732.5 - 6 1036 c.336C>T c.(334-336)tcC>tcT p.S112S ABCA3_ENST00000567910.1_Silent_p.S112S|ABCA3_ENST00000382381.3_Silent_p.S112S NM_001089.2 NP_001080.2 Q99758 ABCA3_HUMAN ATP-binding cassette, sub-family A (ABC1), member 3 112 response to drug integral to membrane|lamellar body|membrane fraction|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1) 70 Ovarian(90;0.17) AGTCCTTCTCGGAGGGAAAGC 0.587000 23 41 0 0 1 0 0 NPC1L1 29881 broad.mit.edu 37 7 44579720 44579720 + Silent SNP G G A TCGA-FG-7637-01A-11D-2086-08 TCGA-FG-7637-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx aea26718-ba34-444f-9122-0faf73b62ea1 c2346512-f289-4ac1-a8c9-460c4f3f0126 g.chr7:44579720G>A ENST00000289547.4 - 2 331 c.276C>T c.(274-276)tcC>tcT p.S92S NPC1L1_ENST00000423141.1_Silent_p.S92S|NPC1L1_ENST00000381160.3_Silent_p.S92S|NPC1L1_ENST00000546276.1_Silent_p.S92S NM_013389.2 NP_037521.2 Q9UHC9 NPCL1_HUMAN NPC1-like 1 92 cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane hedgehog receptor activity|protein binding p.S92S(1) breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 57 Ezetimibe(DB00973) GCTGCTTGGCGGAGCAGCAGG 0.602000 3 51 0 0 1 0 0 ARID1A 8289 broad.mit.edu 37 1 27106229 27106230 + Frame_Shift_Del DEL AG AG - TCGA-FG-7637-01A-11D-2086-08 TCGA-FG-7637-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx aea26718-ba34-444f-9122-0faf73b62ea1 c2346512-f289-4ac1-a8c9-460c4f3f0126 g.chr1:27106229_27106230delAG ENST00000324856.7 + 20 6211_6212 c.5840_5841delAG c.(5839-5841)cfs p.Q1947fs ARID1A_ENST00000540690.1_Frame_Shift_Del_p.Q275fs|ARID1A_ENST00000374152.2_Frame_Shift_Del_p.Q1564fs|ARID1A_ENST00000457599.2_Frame_Shift_Del_p.Q1730fs NM_006015.4 NP_006006.3 O14497 ARI1A_HUMAN AT rich interactive domain 1A (SWI-like) 1947 androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent nBAF complex|npBAF complex|SWI/SNF complex DNA binding|protein binding p.H1949fs*16(1) ARID1A/MAST2_ENST00000361297(2) NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24) 411 all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242) AGCCCAGCACAGAGCCACCGGA 0.530 """Mis, N, F, S, D""" """clear cell ovarian carcinoma, RCC""" 22 137 --- --- --- --- AC007092.1 0 broad.mit.edu 37 2 58655794 58655796 + RNA DEL TGC TGC - rs10589511 TCGA-FG-7637-01A-11D-2086-08 TCGA-FG-7637-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx aea26718-ba34-444f-9122-0faf73b62ea1 c2346512-f289-4ac1-a8c9-460c4f3f0126 g.chr2:58655794_58655796delTGC ENST00000452840.1 + 0 127 TCTGTTCGTTtgctgctgctgct 0.700 4 3 --- --- --- --- AC018890.6 0 broad.mit.edu 37 2 175585079 175585079 + RNA DEL A A - TCGA-FG-7637-01A-11D-2086-08 TCGA-FG-7637-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx aea26718-ba34-444f-9122-0faf73b62ea1 c2346512-f289-4ac1-a8c9-460c4f3f0126 g.chr2:175585079delA ENST00000442996.1 + 0 217 TTTCATTCTCAAAAAAAAAAA 0.368 OREG0015078 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 3 --- --- --- --- ZBTB20 26137 broad.mit.edu 37 3 114058002 114058003 + Frame_Shift_Ins INS - - G TCGA-FG-7637-01A-11D-2086-08 TCGA-FG-7637-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx aea26718-ba34-444f-9122-0faf73b62ea1 c2346512-f289-4ac1-a8c9-460c4f3f0126 g.chr3:114058002_114058003insG ENST00000462705.1 - 12 2677_2678 c.1856_1857insC c.(1855-1857)cgcfs p.R619fs ZBTB20_ENST00000474710.1_Frame_Shift_Ins_p.R692fs|ZBTB20_ENST00000393785.2_Frame_Shift_Ins_p.R619fs|ZBTB20_ENST00000464560.1_Frame_Shift_Ins_p.R619fs|ZBTB20_ENST00000481632.1_Frame_Shift_Ins_p.R619fs|ZBTB20_ENST00000357258.3_Frame_Shift_Ins_p.R619fs|ZBTB20_ENST00000471418.1_Frame_Shift_Ins_p.R619fs NM_001164343.1 NP_001157815.1 Q9HC78 ZBT20_HUMAN zinc finger and BTB domain containing 20 692 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.P619fs*43(1) breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 48 LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191) GTGTGCCTGCAGGGGGGGTCCC 0.634 19 43 --- --- --- --- HDGFRP2 0 broad.mit.edu 37 19 4493799 4493801 + In_Frame_Del DEL TCC TCC - TCGA-FG-7637-01A-11D-2086-08 TCGA-FG-7637-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx aea26718-ba34-444f-9122-0faf73b62ea1 c2346512-f289-4ac1-a8c9-460c4f3f0126 g.chr19:4493799_4493801delTCC ENST00000301284.4 + 7 842_844 c.778_780delTCC c.(778-780)del p.S264del HDGFRP2_ENST00000586684.1_In_Frame_Del_p.S264del NM_001001520.1|NM_032631.2 NP_001001520.1|NP_116020.1 Q7Z4V5 HDGR2_HUMAN 264 Ser-rich. transcription, DNA-dependent nucleus DNA binding|protein binding ctcctcctcttcctcctcctcct 0.675 2 4 --- --- --- --- CTC-260E6.6 0 broad.mit.edu 37 19 20240579 20240579 + RNA DEL C C - TCGA-FG-7637-01A-11D-2086-08 TCGA-FG-7637-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx aea26718-ba34-444f-9122-0faf73b62ea1 c2346512-f289-4ac1-a8c9-460c4f3f0126 g.chr19:20240579delC ENST00000590606.1 - 0 315 CTC-260E6.6_ENST00000593655.1_RNA|CTC-260E6.6_ENST00000586657.1_RNA gccaatgcttctattttaatg 0.338 2 4 --- --- --- ---