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 RHOXF1 158800 broad.mit.edu 37 X 119249500 119249500 + Silent SNP C C A TCGA-95-8494-01A-11D-2323-08 TCGA-95-8494-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx db6db3f7-ac97-46eb-a799-efc77209a1e3 a4d83fa4-8a2d-4f51-a039-3e0b2f3e42e3 g.chrX:119249500C>A ENST00000217999.2 - 1 347 c.273G>T c.(271-273)gcG>gcT p.A91A RP4-755D9.1_ENST00000553843.1_RNA NM_139282.1 NP_644811.1 Q8NHV9 RHXF1_HUMAN Rhox homeobox family, member 1 91 gamete generation|multicellular organismal development|steroid hormone receptor signaling pathway nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1) 10 CCTCCATGGCCGCCTGGGCCG 0.677000 55 71 1.54043e-34 1.723e-34 1 1 0 YLPM1 56252 broad.mit.edu 37 14 75302013 75302013 + Missense_Mutation SNP A A G TCGA-95-8494-01A-11D-2323-08 TCGA-95-8494-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx db6db3f7-ac97-46eb-a799-efc77209a1e3 a4d83fa4-8a2d-4f51-a039-3e0b2f3e42e3 g.chr14:75302013A>G ENST00000325680.7 + 20 6464 c.6340A>G c.(6340-6342)Agg>Ggg p.R2114G YLPM1_ENST00000552421.1_Missense_Mutation_p.R1408G NM_019589.2 NP_062535.2 P49750 YLPM1_HUMAN YLP motif containing 1 1919 regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear speck breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 62 KIRC - Kidney renal clear cell carcinoma(43;0.238) BRCA - Breast invasive adenocarcinoma(234;0.00162) AGATAGGAAAAGGGCCATAGG 0.428000 3 63 0 0 1 0 0 XIRP2 129446 broad.mit.edu 37 2 168102133 168102133 + Missense_Mutation SNP G G A TCGA-95-8494-01A-11D-2323-08 TCGA-95-8494-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx db6db3f7-ac97-46eb-a799-efc77209a1e3 a4d83fa4-8a2d-4f51-a039-3e0b2f3e42e3 g.chr2:168102133G>A ENST00000409195.1 + 9 4320 c.4231G>A c.(4231-4233)Gac>Aac p.D1411N XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.D1411N|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.D1189N|XIRP2_ENST00000420519.1_Intron NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 1236 actin cytoskeleton organization cell junction actin binding NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 GCCCAGTATTGACCATATACA 0.338000 11 57 0 0 1 0 0 EPB41L4A 64097 broad.mit.edu 37 5 111576490 111576490 + Missense_Mutation SNP G G C TCGA-95-8494-01A-11D-2323-08 TCGA-95-8494-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx db6db3f7-ac97-46eb-a799-efc77209a1e3 a4d83fa4-8a2d-4f51-a039-3e0b2f3e42e3 g.chr5:111576490G>C ENST00000261486.5 - 10 1089 c.813C>G c.(811-813)ttC>ttG p.F271L RP11-526F3.1_ENST00000504004.1_RNA NM_022140.3 NP_071423.3 Q9HCS5 E41LA_HUMAN erythrocyte membrane protein band 4.1 like 4A 271 FERM. cytoplasm|cytoskeleton|extrinsic to membrane cytoskeletal protein binding breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(2)|skin(1) 34 all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135) OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791) CTTCAAAAAAGAATGAGGTTT 0.363000 7 43 0 0 1 0 0 SPATA4 132851 broad.mit.edu 37 4 177116675 177116675 + Silent SNP C C T TCGA-95-8494-01A-11D-2323-08 TCGA-95-8494-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx db6db3f7-ac97-46eb-a799-efc77209a1e3 a4d83fa4-8a2d-4f51-a039-3e0b2f3e42e3 g.chr4:177116675C>T ENST00000280191.2 - 1 147 c.39G>A c.(37-39)caG>caA p.Q13Q NM_144644.2 NP_653245.2 Q8NEY3 SPAT4_HUMAN spermatogenesis associated 4 13 apoptosis|spermatogenesis NS(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10) 22 Breast(14;0.0011)|Prostate(90;0.0129)|Melanoma(52;0.0133)|Renal(120;0.0376)|all_hematologic(60;0.124) all cancers(43;2.9e-20)|Epithelial(43;1.99e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.58e-09)|GBM - Glioblastoma multiforme(59;0.000162)|STAD - Stomach adenocarcinoma(60;0.000543)|LUSC - Lung squamous cell carcinoma(193;0.096) CTGCCGCAGTCTGTGTCAAAT 0.612000 18 73 0 0 1 0 0 SFMBT1 51460 broad.mit.edu 37 3 52954585 52954585 + Missense_Mutation SNP C C A TCGA-95-8494-01A-11D-2323-08 TCGA-95-8494-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx db6db3f7-ac97-46eb-a799-efc77209a1e3 a4d83fa4-8a2d-4f51-a039-3e0b2f3e42e3 g.chr3:52954585C>A ENST00000394752.3 - 12 1722 c.1340G>T c.(1339-1341)gGc>gTc p.G447V SFMBT1_ENST00000296295.6_Missense_Mutation_p.G447V|SFMBT1_ENST00000394750.1_Missense_Mutation_p.G447V|SFMBT1_ENST00000358080.2_Missense_Mutation_p.G447V NM_016329.3 NP_057413.2 Q9UHJ3 SMBT1_HUMAN Scm-like with four mbt domains 1 447 regulation of transcription, DNA-dependent nucleus breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 24 BRCA - Breast invasive adenocarcinoma(193;9.91e-05)|Kidney(197;0.000644)|KIRC - Kidney renal clear cell carcinoma(197;0.000792)|OV - Ovarian serous cystadenocarcinoma(275;0.113) GAGGGGGTGGCCGTTGGTTTC 0.433000 9 33 1.12685e-05 1.18163e-05 1 1 0 PLD1 5337 broad.mit.edu 37 3 171338216 171338216 + Missense_Mutation SNP G G T TCGA-95-8494-01A-11D-2323-08 TCGA-95-8494-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx db6db3f7-ac97-46eb-a799-efc77209a1e3 a4d83fa4-8a2d-4f51-a039-3e0b2f3e42e3 g.chr3:171338216G>T ENST00000356327.5 - 23 2644 c.2574C>A c.(2572-2574)caC>caA p.H858Q PLD1_ENST00000342215.6_3'UTR|PLD1_ENST00000351298.4_Missense_Mutation_p.H896Q|PLD1_ENST00000340989.4_Missense_Mutation_p.H896Q NM_001130081.2 NP_001123553.1 Q13393 PLD1_HUMAN phospholipase D1, phosphatidylcholine-specific 896 Catalytic. cell communication|chemotaxis|Ras protein signal transduction endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 63 all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186) LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14) Choline(DB00122) ACAACTTGCTGTGGACATAGA 0.368000 12 76 3.27435e-08 3.45753e-08 1 1 0 ALDH3A1 218 broad.mit.edu 37 17 19648427 19648427 + Missense_Mutation SNP C C T TCGA-95-8494-01A-11D-2323-08 TCGA-95-8494-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx db6db3f7-ac97-46eb-a799-efc77209a1e3 a4d83fa4-8a2d-4f51-a039-3e0b2f3e42e3 g.chr17:19648427C>T ENST00000457500.2 - 1 345 c.16G>A c.(16-18)Gag>Aag p.E6K ALDH3A1_ENST00000494157.2_Intron|ALDH3A1_ENST00000485231.1_Intron|ALDH3A1_ENST00000444455.1_Missense_Mutation_p.E6K|ALDH3A1_ENST00000395555.3_Missense_Mutation_p.E6K|ALDH3A1_ENST00000225740.6_Missense_Mutation_p.E6K NM_001135168.1 NP_001128640.1 P30838 AL3A1_HUMAN aldehyde dehydrogenase 3 family, member A1 6 cellular aldehyde metabolic process cytosol|endoplasmic reticulum alcohol dehydrogenase (NADP+) activity|aldehyde dehydrogenase|aldehyde dehydrogenase (NAD) activity breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|urinary_tract(1) 13 all_cancers(12;4.01e-05)|all_epithelial(12;0.00301)|Breast(13;0.186) Colorectal(15;0.0829) NADH(DB00157) TTCACGGCCTCGCTGATCTTG 0.682000 16 29 0 0 1 0 0 MPHOSPH8 54737 broad.mit.edu 37 13 20220962 20220962 + Missense_Mutation SNP G G C TCGA-95-8494-01A-11D-2323-08 TCGA-95-8494-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx db6db3f7-ac97-46eb-a799-efc77209a1e3 a4d83fa4-8a2d-4f51-a039-3e0b2f3e42e3 g.chr13:20220962G>C ENST00000361479.5 + 3 817 c.749G>C c.(748-750)aGa>aCa p.R250T MPHOSPH8_ENST00000414242.2_Missense_Mutation_p.R250T NM_017520.3 NP_059990.2 Q99549 MPP8_HUMAN M-phase phosphoprotein 8 250 Lys-rich. cell cycle cytoplasm|nucleus breast(2)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 all_cancers(29;2.83e-16)|all_lung(29;1.16e-17)|all_epithelial(30;8.13e-16)|Lung NSC(5;6.91e-15)|Lung SC(185;0.0367) all cancers(112;8.43e-05)|Epithelial(112;0.000426)|OV - Ovarian serous cystadenocarcinoma(117;0.00596)|Lung(94;0.015)|LUSC - Lung squamous cell carcinoma(192;0.0795) aaagaaaatagaaaaacaaaa 0.313000 14 52 0 0 1 0 0 SI 6476 broad.mit.edu 37 3 164704982 164704982 + Missense_Mutation SNP G G A TCGA-95-8494-01A-11D-2323-08 TCGA-95-8494-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx db6db3f7-ac97-46eb-a799-efc77209a1e3 a4d83fa4-8a2d-4f51-a039-3e0b2f3e42e3 g.chr3:164704982G>A ENST00000264382.3 - 45 5203 c.5141C>T c.(5140-5142)gCa>gTa p.A1714V NM_001041.3 NP_001032.2 P14410 SUIS_HUMAN sucrase-isomaltase (alpha-glucosidase) 1714 Sucrase. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|brush border|Golgi apparatus|integral to membrane carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1) 218 Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199) Acarbose(DB00284) ATTATCATCTGCAGCAACAAT 0.343000 HNSCC(35;0.089) 21 117 0 0 1 0 0 LTB4R 1241 broad.mit.edu 37 14 24785064 24785064 + Silent SNP C C G TCGA-95-8494-01A-11D-2323-08 TCGA-95-8494-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx db6db3f7-ac97-46eb-a799-efc77209a1e3 a4d83fa4-8a2d-4f51-a039-3e0b2f3e42e3 g.chr14:24785064C>G ENST00000396789.4 + 2 1932 c.207C>G c.(205-207)ctC>ctG p.L69L LTB4R_ENST00000396782.2_Silent_p.L69L|LTB4R_ENST00000345363.3_Silent_p.L69L NM_181657.3 NP_858043.1 Q15722 LT4R1_HUMAN leukotriene B4 receptor 69 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular component movement|immune response|inflammatory response|muscle contraction integral to plasma membrane nucleotide binding endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|stomach(1) 8 GBM - Glioblastoma multiforme(265;0.018) CCGTATTGCTCACTGCTCCCT 0.567000 26 100 0 0 1 0 0 PRB2 653247 broad.mit.edu 37 12 11546491 11546491 + Missense_Mutation SNP C C T TCGA-95-8494-01A-11D-2323-08 TCGA-95-8494-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx db6db3f7-ac97-46eb-a799-efc77209a1e3 a4d83fa4-8a2d-4f51-a039-3e0b2f3e42e3 g.chr12:11546491C>T ENST00000389362.4 - 3 556 c.521G>A c.(520-522)cGa>cAa p.R174Q PRB1_ENST00000546254.1_Intron NM_006248.3 NP_006239.3 proline-rich protein BstNI subfamily 2 p.R153L(1)|p.R174L(1) NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1) 37 all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09) OV - Ovarian serous cystadenocarcinoma(49;0.185) TGGAGGAGATCGAGAACTTCG 0.607000 6 565 0 0 1 0 0 MCM4 4173 broad.mit.edu 37 8 48874123 48874123 + Missense_Mutation SNP G G A TCGA-95-8494-01A-11D-2323-08 TCGA-95-8494-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx db6db3f7-ac97-46eb-a799-efc77209a1e3 a4d83fa4-8a2d-4f51-a039-3e0b2f3e42e3 g.chr8:48874123G>A ENST00000262105.2 + 2 327 c.118G>A c.(118-120)Gag>Aag p.E40K MCM4_ENST00000523944.1_Missense_Mutation_p.E40K NM_005914.3 NP_005905.2 P33991 MCM4_HUMAN minichromosome maintenance complex component 4 40 cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle MCM complex ATP binding|DNA binding|helicase activity|protein binding biliary_tract(1)|breast(1)|endometrium(7)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2) 44 all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354) ACGTAGAGGCGAGGATTCCAC 0.592000 31 50 0 0 1 0 0 STAT4 6775 broad.mit.edu 37 2 191898689 191898689 + Nonsense_Mutation SNP C C A TCGA-95-8494-01A-11D-2323-08 TCGA-95-8494-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx db6db3f7-ac97-46eb-a799-efc77209a1e3 a4d83fa4-8a2d-4f51-a039-3e0b2f3e42e3 g.chr2:191898689C>A ENST00000392320.2 - 19 1977 c.1663G>T c.(1663-1665)Gaa>Taa p.E555* STAT4_ENST00000358470.4_Nonsense_Mutation_p.E555* NM_003151.3 NP_003142.1 Q14765 STAT4_HUMAN signal transducer and activator of transcription 4 555 JAK-STAT cascade cytoplasm|nucleus calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity breast(4)|endometrium(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 42 OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204) AATATTGCTTCAAGCCATGTC 0.294000 18 121 7.45023e-12 8.15206e-12 1 1 0 GALNT13 114805 broad.mit.edu 37 2 155099252 155099252 + Nonsense_Mutation SNP G G T TCGA-95-8494-01A-11D-2323-08 TCGA-95-8494-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx db6db3f7-ac97-46eb-a799-efc77209a1e3 a4d83fa4-8a2d-4f51-a039-3e0b2f3e42e3 g.chr2:155099252G>T ENST00000392825.3 + 6 1087 c.520G>T c.(520-522)Gaa>Taa p.E174* GALNT13_ENST00000409237.1_Nonsense_Mutation_p.E174* NM_052917.2 NP_443149.2 Q8IUC8 GLT13_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13) 174 Catalytic subdomain A. Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 65 GAAAAATTTAGAAGTGCCAGT 0.343000 3 36 0.004672 0.00479913 1 1 0 EPG5 57724 broad.mit.edu 37 18 43450707 43450707 + Splice_Site SNP T T C TCGA-95-8494-01A-11D-2323-08 TCGA-95-8494-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx db6db3f7-ac97-46eb-a799-efc77209a1e3 a4d83fa4-8a2d-4f51-a039-3e0b2f3e42e3 g.chr18:43450707T>C ENST00000282041.5 - 36 6084 c.6049_splice c.e36-1 p.D2017_splice EPG5_ENST00000585906.1_5'UTR NM_020964.2 NP_066015.2 Q9HCE0 EPG5_HUMAN ectopic P-granules autophagy protein 5 homolog (C. elegans) 2017 autophagy NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 95 CAACAGCTTATCTAGAATGTG 0.373000 8 41 0 0 1 0 0 BDP1 55814 broad.mit.edu 37 5 70812024 70812024 + Missense_Mutation SNP G G A TCGA-95-8494-01A-11D-2323-08 TCGA-95-8494-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx db6db3f7-ac97-46eb-a799-efc77209a1e3 a4d83fa4-8a2d-4f51-a039-3e0b2f3e42e3 g.chr5:70812024G>A ENST00000358731.4 + 21 5049 c.4786G>A c.(4786-4788)Gaa>Aaa p.E1596K BDP1_ENST00000380675.2_5'UTR NM_018429.2 NP_060899.2 A6H8Y1 BDP1_HUMAN B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB 1596 regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter nucleoplasm DNA binding NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 72 Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50) AGACAAAGGTGAAGCCAAAGG 0.378000 8 40 0 0 1 0 0 GOLGA2 2801 broad.mit.edu 37 9 131023764 131023764 + Nonsense_Mutation SNP C C T TCGA-95-8494-01A-11D-2323-08 TCGA-95-8494-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx db6db3f7-ac97-46eb-a799-efc77209a1e3 a4d83fa4-8a2d-4f51-a039-3e0b2f3e42e3 g.chr9:131023764C>T ENST00000421699.2 - 15 1232 c.1220G>A c.(1219-1221)tGg>tAg p.W407* NM_004486.4 NP_004477.3 Q08379 GOGA2_HUMAN golgin A2 407 Golgi cisterna membrane protein binding NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 34 CCTCTGCCGCCACATGGCGCT 0.498000 22 106 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179579976 179579976 + Missense_Mutation SNP C C T rs144587343 by1000genomes TCGA-95-8494-01A-11D-2323-08 TCGA-95-8494-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx db6db3f7-ac97-46eb-a799-efc77209a1e3 a4d83fa4-8a2d-4f51-a039-3e0b2f3e42e3 g.chr2:179579976C>T ENST00000589042.1 - 90 26161 c.25937G>A c.(25936-25938)cGc>cAc p.R8646H TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.R7402H|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.R8329H|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 8329 Ig-like 69. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) AGGCTTTTTGCGGAAAATGGG 0.393000 33 63 0 0 1 0 0 NLRP7 199713 broad.mit.edu 37 19 55453116 55453116 + Silent SNP G G A TCGA-95-8494-01A-11D-2323-08 TCGA-95-8494-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx db6db3f7-ac97-46eb-a799-efc77209a1e3 a4d83fa4-8a2d-4f51-a039-3e0b2f3e42e3 g.chr19:55453116G>A ENST00000446217.1 - 4 450 c.48C>T c.(46-48)ttC>ttT p.F16F NLRP7_ENST00000588756.1_5'UTR|NLRP7_ENST00000592784.1_5'UTR|NLRP7_ENST00000590030.1_5'UTR|NLRP7_ENST00000448121.2_5'UTR|NLRP7_ENST00000340844.2_5'UTR|NLRP7_ENST00000328092.5_5'UTR Q8WX94 NALP7_HUMAN NLR family, pyrin domain containing 7 0 DAPIN. ATP binding autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 73 GBM - Glioblastoma multiforme(193;0.0325) TAAGGCTGAAGAACTGGGGGG 0.473000 10 11 0 0 1 0 0 FCRL2 79368 broad.mit.edu 37 1 157738327 157738327 + Missense_Mutation SNP G G A TCGA-95-8494-01A-11D-2323-08 TCGA-95-8494-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx db6db3f7-ac97-46eb-a799-efc77209a1e3 a4d83fa4-8a2d-4f51-a039-3e0b2f3e42e3 g.chr1:157738327G>A ENST00000361516.3 - 5 808 c.760C>T c.(760-762)Cgt>Tgt p.R254C FCRL2_ENST00000392274.3_Missense_Mutation_p.R254C|FCRL2_ENST00000368181.4_Intron NM_030764.3 NP_110391.2 Q96LA5 FCRL2_HUMAN Fc receptor-like 2 254 Ig-like C2-type 3. cell-cell signaling integral to membrane|plasma membrane|soluble fraction receptor activity|SH3/SH2 adaptor activity central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|skin(2) 51 all_hematologic(112;0.0378) LUSC - Lung squamous cell carcinoma(543;0.24) GACAGGGAACGCTGGGTTTTC 0.517000 60 122 0 0 1 0 0 EIF4ENIF1 56478 broad.mit.edu 37 22 31850286 31850286 + Silent SNP C C T TCGA-95-8494-01A-11D-2323-08 TCGA-95-8494-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx db6db3f7-ac97-46eb-a799-efc77209a1e3 a4d83fa4-8a2d-4f51-a039-3e0b2f3e42e3 g.chr22:31850286C>T ENST00000397525.1 - 10 1579 c.1356G>A c.(1354-1356)aaG>aaA p.K452K EIF4ENIF1_ENST00000330125.5_Silent_p.K452K|EIF4ENIF1_ENST00000344710.5_Silent_p.K289K|EIF4ENIF1_ENST00000382180.2_Silent_p.K131K|EIF4ENIF1_ENST00000397523.1_Silent_p.K452K|RP11-247I13.11_ENST00000464523.1_RNA NM_001164501.1 NP_001157973.1 Q9NRA8 4ET_HUMAN eukaryotic translation initiation factor 4E nuclear import factor 1 452 nucleus protein binding|protein transporter activity autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 GAGTTGAATTCTTCACTTGCT 0.488000 35 54 0 0 1 0 0 TNNI3K 51086 broad.mit.edu 37 1 74902157 74902157 + Splice_Site SNP G G T TCGA-95-8494-01A-11D-2323-08 TCGA-95-8494-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx db6db3f7-ac97-46eb-a799-efc77209a1e3 a4d83fa4-8a2d-4f51-a039-3e0b2f3e42e3 g.chr1:74902157G>T ENST00000370891.2 + 21 2144 c.e21-1 FPGT-TNNI3K_ENST00000370899.3_Splice_Site|TNNI3K_ENST00000326637.3_Splice_Site|FPGT-TNNI3K_ENST00000557284.1_Splice_Site NM_001112808.2 NP_001106279.1 TNNI3 interacting kinase cervix(1)|endometrium(3)|kidney(5)|large_intestine(21)|lung(31)|ovary(4)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3) 76 CTTTCCCTCAGAATCAAGATT 0.328000 3 23 1 1 1 1 0 IPP 3652 broad.mit.edu 37 1 46211802 46211802 + Silent SNP G G A TCGA-95-8494-01A-11D-2323-08 TCGA-95-8494-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx db6db3f7-ac97-46eb-a799-efc77209a1e3 a4d83fa4-8a2d-4f51-a039-3e0b2f3e42e3 g.chr1:46211802G>A ENST00000396478.3 - 2 384 c.282C>T c.(280-282)ttC>ttT p.F94F NM_005897.2 NP_005888.1 Q9Y573 IPP_HUMAN intracisternal A particle-promoted polypeptide 94 BTB. actin cytoskeleton|cytoplasm actin binding central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|stomach(2) 20 Acute lymphoblastic leukemia(166;0.155) CTGTGTAAATGAAATCTAGAA 0.353000 14 47 0 0 1 0 0 SLCO1B3 28234 broad.mit.edu 37 12 21015720 21015720 + Missense_Mutation SNP C C T TCGA-95-8494-01A-11D-2323-08 TCGA-95-8494-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx db6db3f7-ac97-46eb-a799-efc77209a1e3 a4d83fa4-8a2d-4f51-a039-3e0b2f3e42e3 g.chr12:21015720C>T ENST00000381545.3 + 8 878 c.659C>T c.(658-660)cCa>cTa p.P220L SLCO1B3_ENST00000553473.1_Missense_Mutation_p.P220L|LST3_ENST00000540229.1_Missense_Mutation_p.P220L|SLCO1B7_ENST00000554957.1_Intron|LST3_ENST00000381541.3_Intron|SLCO1B3_ENST00000261196.2_Missense_Mutation_p.P220L NM_019844.3 NP_062818.1 Q9NPD5 SO1B3_HUMAN solute carrier organic anion transporter family, member 1B3 220 bile acid metabolic process|sodium-independent organic anion transport basolateral plasma membrane|cytoplasm|integral to plasma membrane bile acid transmembrane transporter activity|organic anion transmembrane transporter activity breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2) 63 Esophageal squamous(101;0.149) ATGATTGGTCCAGTCATTGGC 0.333000 8 237 0 0 1 0 0 EPPK1 83481 broad.mit.edu 37 8 144941649 144941649 + Missense_Mutation SNP C C A TCGA-95-8494-01A-11D-2323-08 TCGA-95-8494-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx db6db3f7-ac97-46eb-a799-efc77209a1e3 a4d83fa4-8a2d-4f51-a039-3e0b2f3e42e3 g.chr8:144941649C>A ENST00000525985.1 - 2 5844 c.5773G>T c.(5773-5775)Gca>Tca p.A1925S P58107 EPIPL_HUMAN epiplakin 1 1925 cytoplasm|cytoskeleton protein binding|structural molecule activity NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) GTCGCAAATGCTGCAGGGATG 0.652000 33 84 2.08457e-15 2.29759e-15 1 1 0 EVPL 2125 broad.mit.edu 37 17 74006263 74006263 + Missense_Mutation SNP T T A TCGA-95-8494-01A-11D-2323-08 TCGA-95-8494-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx db6db3f7-ac97-46eb-a799-efc77209a1e3 a4d83fa4-8a2d-4f51-a039-3e0b2f3e42e3 g.chr17:74006263T>A ENST00000301607.3 - 22 3276 c.3023A>T c.(3022-3024)aAg>aTg p.K1008M EVPL_ENST00000586740.1_Missense_Mutation_p.K1030M NM_001988.2 NP_001979.2 Q92817 EVPL_HUMAN envoplakin 1008 Central fibrous rod domain. keratinization|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural molecule activity breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4) 54 CTGCATGGTCTTCCTCTTGCT 0.657000 13 92 0 0 1 0 0 PTGS1 5742 broad.mit.edu 37 9 125148839 125148839 + Missense_Mutation SNP G G A TCGA-95-8494-01A-11D-2323-08 TCGA-95-8494-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx db6db3f7-ac97-46eb-a799-efc77209a1e3 a4d83fa4-8a2d-4f51-a039-3e0b2f3e42e3 g.chr9:125148839G>A ENST00000362012.2 + 9 1129 c.1124G>A c.(1123-1125)cGc>cAc p.R375H AL162424.1_ENST00000600713.1_Intron|PTGS1_ENST00000540753.1_Missense_Mutation_p.R350H|PTGS1_ENST00000373698.5_Missense_Mutation_p.R266H|PTGS1_ENST00000223423.4_Missense_Mutation_p.R375H NM_000962.2|NM_001271164.1|NM_080591.1 NP_000953.2|NP_001258093.1|NP_542158.1 P23219 PGH1_HUMAN prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase) 375 cyclooxygenase pathway|hormone biosynthetic process|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process endoplasmic reticulum membrane|Golgi apparatus|microsome|plasma membrane heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity large_intestine(3)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 8 Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dipyrone(DB04817)|Etodolac(DB00749)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Mesalazine(DB00244)|Minoxidil(DB00350)|Nabumetone(DB00461)|Naproxen(DB00788)|Phenacetin(DB03783)|Piroxicam(DB00554)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Tolmetin(DB00500) TACCGCAACCGCATTGCCATG 0.537000 4 237 0 0 1 0 0 LRP1B 53353 broad.mit.edu 37 2 141242971 141242971 + Silent SNP A A G TCGA-95-8494-01A-11D-2323-08 TCGA-95-8494-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx db6db3f7-ac97-46eb-a799-efc77209a1e3 a4d83fa4-8a2d-4f51-a039-3e0b2f3e42e3 g.chr2:141242971A>G ENST00000389484.3 - 59 10337 c.9366T>C c.(9364-9366)acT>acC p.T3122T NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 3122 protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) TAACGAGTATAGTAGGGTACA 0.378000 TSP Lung(27;0.18) 7 38 0 0 1 0 0 GSE1 23199 broad.mit.edu 37 16 85667701 85667701 + Silent SNP G G A TCGA-95-8494-01A-11D-2323-08 TCGA-95-8494-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx db6db3f7-ac97-46eb-a799-efc77209a1e3 a4d83fa4-8a2d-4f51-a039-3e0b2f3e42e3 g.chr16:85667701G>A ENST00000253458.7 + 2 365 c.189G>A c.(187-189)gcG>gcA p.A63A GSE1_ENST00000393243.1_Intron|GSE1_ENST00000405402.2_Intron NM_014615.2 NP_055430.1 Gse1 coiled-coil protein TTGCCGCCGCGCTGCGCAAGC 0.766000 6 21 0 0 1 0 0 CNTNAP1 8506 broad.mit.edu 37 17 40842164 40842164 + Silent SNP C C T TCGA-95-8494-01A-11D-2323-08 TCGA-95-8494-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx db6db3f7-ac97-46eb-a799-efc77209a1e3 a4d83fa4-8a2d-4f51-a039-3e0b2f3e42e3 g.chr17:40842164C>T ENST00000264638.4 + 12 2011 c.1794C>T c.(1792-1794)ttC>ttT p.F598F CTD-3193K9.3_ENST00000592440.1_RNA NM_003632.2 NP_003623.1 P78357 CNTP1_HUMAN contactin associated protein 1 598 Fibrinogen C-terminal. axon guidance|cell adhesion paranode region of axon receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.143) CTGGAAACTTCACCATTGATC 0.488000 37 309 0 0 1 0 0 FUBP1 8880 broad.mit.edu 37 1 78435673 78435673 + Silent SNP T T A TCGA-95-8494-01A-11D-2323-08 TCGA-95-8494-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx db6db3f7-ac97-46eb-a799-efc77209a1e3 a4d83fa4-8a2d-4f51-a039-3e0b2f3e42e3 g.chr1:78435673T>A ENST00000370767.1 - 2 234 c.147A>T c.(145-147)gcA>gcT p.A49A FUBP1_ENST00000436586.2_Silent_p.A49A|FUBP1_ENST00000370768.2_Silent_p.A49A Q96AE4 FUBP1_HUMAN far upstream element (FUSE) binding protein 1 49 transcription from RNA polymerase II promoter nucleus protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3) 17 GTGATGTCCCTGCATCACCTC 0.299000 """F, N""" oligodendroglioma 9 33 0 0 1 0 0 FAT3 120114 broad.mit.edu 37 11 92534952 92534952 + Missense_Mutation SNP G G A TCGA-95-8494-01A-11D-2323-08 TCGA-95-8494-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx db6db3f7-ac97-46eb-a799-efc77209a1e3 a4d83fa4-8a2d-4f51-a039-3e0b2f3e42e3 g.chr11:92534952G>A ENST00000298047.6 + 9 8790 c.8773G>A c.(8773-8775)Gcg>Acg p.A2925T FAT3_ENST00000409404.2_Missense_Mutation_p.A2925T|FAT3_ENST00000525166.1_Missense_Mutation_p.A2775T Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 2925 Cadherin 27. homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding p.A2925T(2) NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) ACCAGTCTTCGCGCAGGAAGT 0.562000 TCGA Ovarian(4;0.039) 19 85 0 0 1 0 0 BTBD11 121551 broad.mit.edu 37 12 108003971 108003971 + Missense_Mutation SNP G G A TCGA-95-8494-01A-11D-2323-08 TCGA-95-8494-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx db6db3f7-ac97-46eb-a799-efc77209a1e3 a4d83fa4-8a2d-4f51-a039-3e0b2f3e42e3 g.chr12:108003971G>A ENST00000280758.5 + 5 2176 c.1648G>A c.(1648-1650)Gac>Aac p.D550N BTBD11_ENST00000490090.2_Missense_Mutation_p.D550N|BTBD11_ENST00000420571.2_Missense_Mutation_p.D550N|BTBD11_ENST00000357167.4_Missense_Mutation_p.D87N|RP11-128P10.1_ENST00000548473.1_RNA NM_001018072.1 NP_001018082.1 A6QL63 BTBDB_HUMAN BTB (POZ) domain containing 11 550 integral to membrane DNA binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 53 CCTTAGGGCCGACGACTGCTT 0.562000 OREG0022090 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 26 127 0 0 1 0 0 FAM120C 54954 broad.mit.edu 37 X 54107803 54107803 + Missense_Mutation SNP C C T TCGA-95-8494-01A-11D-2323-08 TCGA-95-8494-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx db6db3f7-ac97-46eb-a799-efc77209a1e3 a4d83fa4-8a2d-4f51-a039-3e0b2f3e42e3 g.chrX:54107803C>T ENST00000375180.2 - 14 2986 c.2930G>A c.(2929-2931)cGa>cAa p.R977Q FAM120C_ENST00000328235.4_Missense_Mutation_p.E840K NM_017848.4 NP_060318.3 Q9NX05 F120C_HUMAN family with sequence similarity 120C 977 breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 28 GAAGGATCCTCGGCCCCTGGA 0.557000 22 36 0 0 1 0 0 FGF18 8817 broad.mit.edu 37 5 170883549 170883549 + Missense_Mutation SNP G G A TCGA-95-8494-01A-11D-2323-08 TCGA-95-8494-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx db6db3f7-ac97-46eb-a799-efc77209a1e3 a4d83fa4-8a2d-4f51-a039-3e0b2f3e42e3 g.chr5:170883549G>A ENST00000274625.5 + 5 908 c.364G>A c.(364-366)Ggc>Agc p.G122S NM_003862.2 NP_003853.1 O76093 FGF18_HUMAN fibroblast growth factor 18 122 cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell proliferation extracellular space|nucleolus growth factor activity|type 1 fibroblast growth factor receptor binding|type 2 fibroblast growth factor receptor binding endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(1) 9 Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175) Medulloblastoma(196;0.0208)|all_neural(177;0.0416) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) GCAGCCCGATGGCACCAGCAA 0.522000 48 101 0 0 1 0 0 CLEC5A 23601 broad.mit.edu 37 7 141635717 141635717 + Missense_Mutation SNP C C T TCGA-95-8494-01A-11D-2323-08 TCGA-95-8494-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx db6db3f7-ac97-46eb-a799-efc77209a1e3 a4d83fa4-8a2d-4f51-a039-3e0b2f3e42e3 g.chr7:141635717C>T ENST00000546910.1 - 5 438 c.242G>A c.(241-243)aGa>aAa p.R81K CLEC5A_ENST00000438351.1_Missense_Mutation_p.R58K|CLEC5A_ENST00000470595.1_Intron|CLEC5A_ENST00000551012.2_Missense_Mutation_p.R58K|CLEC5A_ENST00000439991.1_Intron NM_013252.2 NP_037384.1 Q9NY25 CLC5A_HUMAN C-type lectin domain family 5, member A 81 C-type lectin. anti-apoptosis|cellular defense response|innate immune response|interspecies interaction between organisms|osteoblast development cell surface|integral to plasma membrane sugar binding|viral receptor activity endometrium(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1) 10 Melanoma(164;0.0171) GAAAAAACATCTTGCTTGATA 0.413000 11 133 0 0 1 0 0 EVPL 2125 broad.mit.edu 37 17 74007749 74007749 + Splice_Site SNP C C A TCGA-95-8494-01A-11D-2323-08 TCGA-95-8494-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx db6db3f7-ac97-46eb-a799-efc77209a1e3 a4d83fa4-8a2d-4f51-a039-3e0b2f3e42e3 g.chr17:74007749C>A ENST00000301607.3 - 21 2822 c.2568_splice c.e21-1 p.E857_splice EVPL_ENST00000586740.1_Splice_Site_p.E879_splice NM_001988.2 NP_001979.2 Q92817 EVPL_HUMAN envoplakin 857 Central fibrous rod domain. keratinization|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural molecule activity breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4) 54 AGGTTCTTCTCCTGGAGAAGG 0.567000 8 57 0.27861 0.280468 1 1 0 FANCL 55120 broad.mit.edu 37 2 58449124 58449124 + Missense_Mutation SNP C C A TCGA-95-8494-01A-11D-2323-08 TCGA-95-8494-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx db6db3f7-ac97-46eb-a799-efc77209a1e3 a4d83fa4-8a2d-4f51-a039-3e0b2f3e42e3 g.chr2:58449124C>A ENST00000402135.3 - 5 363 c.327G>T c.(325-327)caG>caT p.Q109H FANCL_ENST00000233741.4_Missense_Mutation_p.Q109H|FANCL_ENST00000403676.1_Intron|FANCL_ENST00000403295.3_Missense_Mutation_p.Q109H|FANCL_ENST00000481670.1_5'UTR|FANCL_ENST00000540646.1_Missense_Mutation_p.Q109H NM_001114636.1 NP_001108108.1 Q9NW38 FANCL_HUMAN Fanconi anemia, complementation group L 109 DNA repair cytoplasm|nucleoplasm ubiquitin-protein ligase activity|zinc ion binding endometrium(1)|large_intestine(1)|lung(4)|ovary(2) 8 TTGAGTAGAACTGGGGAGGAG 0.353000 Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 12 45 1.5842e-08 1.68461e-08 1 1 0 CEACAM4 1089 broad.mit.edu 37 19 42133303 42133303 + Missense_Mutation SNP C C T TCGA-95-8494-01A-11D-2323-08 TCGA-95-8494-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx db6db3f7-ac97-46eb-a799-efc77209a1e3 a4d83fa4-8a2d-4f51-a039-3e0b2f3e42e3 g.chr19:42133303C>T ENST00000221954.2 - 1 139 c.29G>A c.(28-30)gGa>gAa p.G10E CEACAM4_ENST00000600925.1_Missense_Mutation_p.G10E NM_001817.2 NP_001808.2 O75871 CEAM4_HUMAN carcinoembryonic antigen-related cell adhesion molecule 4 10 integral to plasma membrane|membrane fraction NS(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(3)|skin(3)|urinary_tract(1) 16 CCTGTGCCCTCCACGGGGAGC 0.652000 12 27 0 0 1 0 0 F8 2157 broad.mit.edu 37 X 154185268 154185268 + Silent SNP G G A TCGA-95-8494-01A-11D-2323-08 TCGA-95-8494-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx db6db3f7-ac97-46eb-a799-efc77209a1e3 a4d83fa4-8a2d-4f51-a039-3e0b2f3e42e3 g.chrX:154185268G>A ENST00000360256.4 - 11 1916 c.1716C>T c.(1714-1716)atC>atT p.I572I NM_000132.3 NP_000123.1 P00451 FA8_HUMAN coagulation factor VIII, procoagulant component 572 F5/8 type A 2.|Plastocyanin-like 3. acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation extracellular space|plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity|protein binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2) 120 all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055) CTTTGTAGCAGATGAGGAGAG 0.458000 33 172 0 0 1 0 0 PCDHGA11 56105 broad.mit.edu 37 5 140802867 140802867 + Silent SNP G G A TCGA-95-8494-01A-11D-2323-08 TCGA-95-8494-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx db6db3f7-ac97-46eb-a799-efc77209a1e3 a4d83fa4-8a2d-4f51-a039-3e0b2f3e42e3 g.chr5:140802867G>A ENST00000398587.2 + 1 2106 c.2073G>A c.(2071-2073)tcG>tcA p.S691S PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA10_ENST00000398610.2_Intron NM_018914.2|NM_032092.1 NP_061737.1|NP_114481.1 breast(3)|endometrium(8)|kidney(3)|large_intestine(9)|lung(22)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1) 49 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CAGACCTCTCGCTGTACTTGG 0.627000 19 155 0 0 1 0 0 BAHCC1 57597 broad.mit.edu 37 17 79409908 79409908 + Silent SNP G G A TCGA-95-8494-01A-11D-2323-08 TCGA-95-8494-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx db6db3f7-ac97-46eb-a799-efc77209a1e3 a4d83fa4-8a2d-4f51-a039-3e0b2f3e42e3 g.chr17:79409908G>A ENST00000307745.7 + 9 1533 c.1533G>A c.(1531-1533)ccG>ccA p.P511P ACCAGGACCCGCTGGGCGGGA 0.652000 4 71 0 0 1 0 0 TCP11L2 255394 broad.mit.edu 37 12 106704939 106704939 + Missense_Mutation SNP C C T TCGA-95-8494-01A-11D-2323-08 TCGA-95-8494-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx db6db3f7-ac97-46eb-a799-efc77209a1e3 a4d83fa4-8a2d-4f51-a039-3e0b2f3e42e3 g.chr12:106704939C>T ENST00000546625.1 + 2 245 c.86C>T c.(85-87)tCg>tTg p.S29L TCP11L2_ENST00000299045.3_Missense_Mutation_p.S29L|TCP11L2_ENST00000547153.1_Missense_Mutation_p.S29L Q8N4U5 T11L2_HUMAN t-complex 11, testis-specific-like 2 29 Ser-rich. endometrium(2)|kidney(2)|large_intestine(5)|ovary(3)|prostate(1)|urinary_tract(2) 15 AGCATGGCTTCGCTCAGTGAC 0.542000 15 83 0 0 1 0 0 SSPO 23145 broad.mit.edu 37 7 149493701 149493701 + RNA SNP C C T TCGA-95-8494-01A-11D-2323-08 TCGA-95-8494-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx db6db3f7-ac97-46eb-a799-efc77209a1e3 a4d83fa4-8a2d-4f51-a039-3e0b2f3e42e3 g.chr7:149493701C>T ENST00000378016.2 + 0 6697 A2VEC9 SSPO_HUMAN SCO-spondin cell adhesion extracellular space peptidase inhibitor activity Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) ACCGGCACCTCTGTGCCCAGG 0.657000 9 69 0 0 1 0 0 OGDHL 55753 broad.mit.edu 37 10 50954884 50954884 + Missense_Mutation SNP C C A TCGA-95-8494-01A-11D-2323-08 TCGA-95-8494-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx db6db3f7-ac97-46eb-a799-efc77209a1e3 a4d83fa4-8a2d-4f51-a039-3e0b2f3e42e3 g.chr10:50954884C>A ENST00000374103.4 - 10 1293 c.1208G>T c.(1207-1209)gGc>gTc p.G403V OGDHL_ENST00000432695.1_Missense_Mutation_p.G194V|OGDHL_ENST00000419399.1_Missense_Mutation_p.G346V NM_018245.2 NP_060715.2 Q9ULD0 OGDHL_HUMAN oxoglutarate dehydrogenase-like 403 glycolysis mitochondrial matrix oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1) 61 CACGCCCTGGCCAGCAAAGGC 0.632000 25 55 5.35356e-11 5.81574e-11 1 1 0 SVIL 6840 broad.mit.edu 37 10 29777528 29777528 + Splice_Site SNP A A T TCGA-95-8494-01A-11D-2323-08 TCGA-95-8494-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx db6db3f7-ac97-46eb-a799-efc77209a1e3 a4d83fa4-8a2d-4f51-a039-3e0b2f3e42e3 g.chr10:29777528A>T ENST00000375398.2 - 25 4798 c.e25+1 SVIL_ENST00000355867.4_Splice_Site|SVIL_ENST00000375400.3_Splice_Site|SVIL_ENST00000535393.1_Splice_Site|SVIL_ENST00000538146.1_Splice_Site O95425 SVIL_HUMAN supervillin cytoskeleton organization|skeletal muscle tissue development cell junction|costamere|invadopodium|nucleus|podosome actin filament binding breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2) 112 Breast(68;0.103) GCTCTGAAATACCTTTAATCT 0.547000 5 4 0 0 1 0 0 MYH4 4622 broad.mit.edu 37 17 10355577 10355577 + Missense_Mutation SNP C C T rs149818821 TCGA-95-8494-01A-11D-2323-08 TCGA-95-8494-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx db6db3f7-ac97-46eb-a799-efc77209a1e3 a4d83fa4-8a2d-4f51-a039-3e0b2f3e42e3 g.chr17:10355577C>T ENST00000255381.2 - 27 3529 c.3419G>A c.(3418-3420)cGc>cAc p.R1140H CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA NM_017533.2 NP_060003.2 Q9Y623 MYH4_HUMAN myosin, heavy chain 4, skeletal muscle 1140 muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 149 GAGGTCAGAGCGCTGCTTCTC 0.582000 56 58 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7578534 7578534 + Missense_Mutation SNP C C A TCGA-95-8494-01A-11D-2323-08 TCGA-95-8494-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx db6db3f7-ac97-46eb-a799-efc77209a1e3 a4d83fa4-8a2d-4f51-a039-3e0b2f3e42e3 g.chr17:7578534C>A ENST00000420246.2 - 5 528 c.396G>T c.(394-396)aaG>aaT p.K132N TP53_ENST00000269305.4_Missense_Mutation_p.K132N|TP53_ENST00000413465.2_Missense_Mutation_p.K132N|TP53_ENST00000359597.4_Missense_Mutation_p.K132N|TP53_ENST00000445888.2_Missense_Mutation_p.K132N|TP53_ENST00000455263.2_Missense_Mutation_p.K132N NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 132 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. K -> E (in LFS; germline mutation and in sporadic cancers; somatic mutation).|K -> L (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|K -> M (in sporadic cancers; somatic mutation).|K -> N (in sporadic cancers; somatic mutation).|K -> Q (in sporadic cancers; somatic mutation).|K -> R (in sporadic cancers; somatic mutation).|K -> T (in sporadic cancers; somatic mutation).|K -> W (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|KM -> NL (in a sporadic cancer; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.K132N(49)|p.0?(8)|p.Y126_K132delYSPALNK(6)|p.K39N(2)|p.N131fs*27(2)|p.V73fs*9(1)|p.S127fs*36(1)|p.A129_K132delALNK(1)|p.Y126fs*11(1)|p.K132K(1)|p.K132_A138delKMFCQLA(1)|p.S127_Q136del10(1)|p.L130_M133delLNKM(1)|p.M133fs*37(1)|p.M133fs*16(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) GGCAAAACATCTTGTTGAGGG 0.562000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 19 17 1.40151e-16 1.55609e-16 1 1 0 THSD7A 221981 broad.mit.edu 37 7 11514014 11514014 + Missense_Mutation SNP C C G TCGA-95-8494-01A-11D-2323-08 TCGA-95-8494-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx db6db3f7-ac97-46eb-a799-efc77209a1e3 a4d83fa4-8a2d-4f51-a039-3e0b2f3e42e3 g.chr7:11514014C>G ENST00000423059.3 - 8 2450 c.2199G>C c.(2197-2199)caG>caC p.Q733H AC004538.3_ENST00000445839.1_RNA NM_015204.2 NP_056019.1 Q9UPZ6 THS7A_HUMAN thrombospondin, type I, domain containing 7A 733 TSP type-1 7. integral to membrane NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11) 113 UCEC - Uterine corpus endometrioid carcinoma (126;0.163) CTTTTCTTGTCTGCATGCCGA 0.507000 HNSCC(18;0.044) 7 86 0 0 1 0 0 GDNF 2668 broad.mit.edu 37 5 37816164 37816164 + Silent SNP C C T TCGA-95-8494-01A-11D-2323-08 TCGA-95-8494-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx db6db3f7-ac97-46eb-a799-efc77209a1e3 a4d83fa4-8a2d-4f51-a039-3e0b2f3e42e3 g.chr5:37816164C>T ENST00000326524.2 - 3 424 c.225G>A c.(223-225)ctG>ctA p.L75L GDNF_ENST00000381826.4_Silent_p.L66L|GDNF_ENST00000427982.1_Silent_p.L92L|GDNF_ENST00000515058.1_Silent_p.L49L|GDNF_ENST00000344622.4_Silent_p.L49L NM_000514.3 NP_000505.1 P39905 GDNF_HUMAN glial cell derived neurotrophic factor 75 adult locomotory behavior|anti-apoptosis|axon guidance|branching involved in ureteric bud morphogenesis|enteric nervous system development|mRNA stabilization|negative regulation of neuron apoptosis|neural crest cell migration|peristalsis|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of dopamine secretion|positive regulation of monooxygenase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of ureteric bud formation|postganglionic parasympathetic nervous system development|regulation of dopamine uptake|signal transduction|sympathetic nervous system development extracellular region growth factor activity|protein homodimerization activity NS(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(8)|skin(2) 15 all_lung(31;0.00118) GTGACCTTTTCAGTCTTTTAA 0.438000 12 106 0 0 1 0 0 GPX8 493869 broad.mit.edu 37 5 54460038 54460038 + Missense_Mutation SNP G G A TCGA-95-8494-01A-11D-2323-08 TCGA-95-8494-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx db6db3f7-ac97-46eb-a799-efc77209a1e3 a4d83fa4-8a2d-4f51-a039-3e0b2f3e42e3 g.chr5:54460038G>A ENST00000503787.1 + 3 697 c.622G>A c.(622-624)Gat>Aat p.D208N GPX8_ENST00000515370.1_Missense_Mutation_p.D157N|CDC20B_ENST00000296733.1_Intron|CDC20B_ENST00000381375.2_Intron|GPX8_ENST00000296734.6_3'UTR|CDC20B_ENST00000331730.3_Intron|CDC20B_ENST00000322374.6_Intron|GPX8_ENST00000506123.1_3'UTR|CDC20B_ENST00000334206.5_Intron NM_001008397.2 NP_001008398.2 Q8TED1 GPX8_HUMAN glutathione peroxidase 8 (putative) 208 response to oxidative stress integral to membrane glutathione peroxidase activity breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|prostate(1) 11 Glutathione(DB00143) AAAGAAAGAGGATCTATGAGA 0.413000 10 45 0 0 1 0 0 EVPL 2125 broad.mit.edu 37 17 74006262 74006262 + Silent SNP C C T TCGA-95-8494-01A-11D-2323-08 TCGA-95-8494-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx db6db3f7-ac97-46eb-a799-efc77209a1e3 a4d83fa4-8a2d-4f51-a039-3e0b2f3e42e3 g.chr17:74006262C>T ENST00000301607.3 - 22 3277 c.3024G>A c.(3022-3024)aaG>aaA p.K1008K EVPL_ENST00000586740.1_Silent_p.K1030K NM_001988.2 NP_001979.2 Q92817 EVPL_HUMAN envoplakin 1008 Central fibrous rod domain. keratinization|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural molecule activity breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4) 54 GCTGCATGGTCTTCCTCTTGC 0.657000 14 93 0 0 1 0 0 HTR3A 3359 broad.mit.edu 37 11 113860378 113860378 + Missense_Mutation SNP C C T TCGA-95-8494-01A-11D-2323-08 TCGA-95-8494-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx db6db3f7-ac97-46eb-a799-efc77209a1e3 a4d83fa4-8a2d-4f51-a039-3e0b2f3e42e3 g.chr11:113860378C>T ENST00000504030.2 + 9 1775 c.1330C>T c.(1330-1332)Cgc>Tgc p.R444C HTR3A_ENST00000506841.2_Missense_Mutation_p.R476C|HTR3A_ENST00000375498.2_Missense_Mutation_p.R450C|HTR3A_ENST00000299961.5_Missense_Mutation_p.R429C|HTR3A_ENST00000355556.2_Missense_Mutation_p.R482C|HTR3A_ENST00000535865.1_Missense_Mutation_p.R188C P46098 5HT3A_HUMAN 5-hydroxytryptamine (serotonin) receptor 3A, ionotropic 444 HA-stretch. digestion|synaptic transmission cell junction|integral to plasma membrane|postsynaptic membrane serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity p.R476C(1) central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 36 all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425) BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191) Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199) AGACTGGCTGCGCGTGGGCTC 0.612000 24 87 0 0 1 0 0 GPR137 56834 broad.mit.edu 37 11 64055813 64055813 + Splice_Site SNP C C T TCGA-95-8494-01A-11D-2323-08 TCGA-95-8494-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx db6db3f7-ac97-46eb-a799-efc77209a1e3 a4d83fa4-8a2d-4f51-a039-3e0b2f3e42e3 g.chr11:64055813C>T ENST00000539851.1 + 6 1252 c.783_splice c.e6-1 p.A262_splice GPR137_ENST00000438980.2_Splice_Site_p.A262_splice|GPR137_ENST00000411458.1_Splice_Site_p.A320_splice|GPR137_ENST00000377702.4_Splice_Site_p.A212_splice|GPR137_ENST00000313074.3_Splice_Site_p.A262_splice NM_001177358.1 NP_001170829.1 Q96N19 G137A_HUMAN G protein-coupled receptor 137 262 integral to membrane central_nervous_system(1)|endometrium(3)|kidney(1)|lung(4)|skin(1) 10 TTCCCACAGGCGGACCTGGTG 0.627000 47 189 0 0 1 0 0 CAGE1 285782 broad.mit.edu 37 6 7378910 7378910 + Silent SNP A A C TCGA-95-8494-01A-11D-2323-08 TCGA-95-8494-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx db6db3f7-ac97-46eb-a799-efc77209a1e3 a4d83fa4-8a2d-4f51-a039-3e0b2f3e42e3 g.chr6:7378910A>C ENST00000502583.1 - 4 1191 c.627T>G c.(625-627)gcT>gcG p.A209A CAGE1_ENST00000509324.1_Intron|CAGE1_ENST00000379918.4_Silent_p.A209A|CAGE1_ENST00000512086.1_Silent_p.A209A|CAGE1_ENST00000338150.4_Silent_p.A209A|CAGE1_ENST00000296742.7_Silent_p.A73A NM_001170692.1 NP_001164163.1 Q8TC20 CAGE1_HUMAN cancer antigen 1 209 breast(1)|cervix(1)|endometrium(3)|kidney(2)|lung(11)|urinary_tract(1) 19 Ovarian(93;0.0418) CAATACTTTTAGCCAGTGACT 0.418000 74 100 0 0 1 0 0 PLEKHA5 54477 broad.mit.edu 37 12 19436477 19436477 + Missense_Mutation SNP G G A TCGA-95-8494-01A-11D-2323-08 TCGA-95-8494-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx db6db3f7-ac97-46eb-a799-efc77209a1e3 a4d83fa4-8a2d-4f51-a039-3e0b2f3e42e3 g.chr12:19436477G>A ENST00000538714.1 + 11 1563 c.1559G>A c.(1558-1560)cGa>cAa p.R520Q PLEKHA5_ENST00000299275.6_Missense_Mutation_p.R520Q|PLEKHA5_ENST00000539256.1_Missense_Mutation_p.R278Q|PLEKHA5_ENST00000424268.1_Missense_Mutation_p.R412Q|PLEKHA5_ENST00000309364.4_Missense_Mutation_p.R520Q|PLEKHA5_ENST00000359180.3_Missense_Mutation_p.R520Q|PLEKHA5_ENST00000543806.1_Missense_Mutation_p.R412Q|PLEKHA5_ENST00000429027.2_Missense_Mutation_p.R526Q|PLEKHA5_ENST00000355397.3_Missense_Mutation_p.R520Q|PLEKHA5_ENST00000317589.4_Missense_Mutation_p.R520Q|PLEKHA5_ENST00000510738.2_3'UTR NM_001143821.2 NP_001137293.2 Q9HAU0 PKHA5_HUMAN pleckstrin homology domain containing, family A member 5 520 1-phosphatidylinositol binding|protein binding autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804) ACCCTCCCTCGACACAGTACT 0.483000 32 223 0 0 1 0 0 TRBV11-1 28582 broad.mit.edu 37 7 142223887 142223887 + RNA SNP A A T TCGA-95-8494-01A-11D-2323-08 TCGA-95-8494-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx db6db3f7-ac97-46eb-a799-efc77209a1e3 a4d83fa4-8a2d-4f51-a039-3e0b2f3e42e3 g.chr7:142223887A>T ENST00000390367.3 - 0 296 TTGAGAGTGGAGTCTACTCCT 0.522000 24 398 0 0 1 0 0 TMTC1 83857 broad.mit.edu 37 12 29786135 29786135 + Missense_Mutation SNP A A T TCGA-95-8494-01A-11D-2323-08 TCGA-95-8494-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx db6db3f7-ac97-46eb-a799-efc77209a1e3 a4d83fa4-8a2d-4f51-a039-3e0b2f3e42e3 g.chr12:29786135A>T ENST00000256062.5 - 6 1222 c.749T>A c.(748-750)aTc>aAc p.I250N TMTC1_ENST00000552618.1_Missense_Mutation_p.I420N|TMTC1_ENST00000551659.1_Missense_Mutation_p.I420N|TMTC1_ENST00000539277.1_Missense_Mutation_p.I358N|TMTC1_ENST00000381224.2_Missense_Mutation_p.I312N|TMTC1_ENST00000319685.8_5'UTR NM_175861.3 NP_787057.2 Q8IUR5 TMTC1_HUMAN transmembrane and tetratricopeptide repeat containing 1 358 integral to membrane binding breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 75 Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032) CGCCAGAAAGATGGTGGCTAA 0.488000 33 73 0 0 1 0 0 MYEF2 50804 broad.mit.edu 37 15 48450996 48450996 + Missense_Mutation SNP C C T TCGA-95-8494-01A-11D-2323-08 TCGA-95-8494-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx db6db3f7-ac97-46eb-a799-efc77209a1e3 a4d83fa4-8a2d-4f51-a039-3e0b2f3e42e3 g.chr15:48450996C>T ENST00000324324.7 - 7 1120 c.841G>A c.(841-843)Gag>Aag p.E281K MYEF2_ENST00000557868.1_5'UTR|MYEF2_ENST00000267836.6_Missense_Mutation_p.E281K NM_016132.3 NP_057216.2 Q9P2K5 MYEF2_HUMAN myelin expression factor 2 281 RRM 2. transcription, DNA-dependent Golgi apparatus|nucleus DNA binding|nucleotide binding|RNA binding endometrium(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 31 all_lung(180;0.00217) all cancers(107;3.73e-10)|GBM - Glioblastoma multiforme(94;7.81e-07) ATTGCTTGCTCAAAAGTGACA 0.418000 10 129 0 0 1 0 0 RALB 5899 broad.mit.edu 37 2 121036307 121036307 + Missense_Mutation SNP G G A TCGA-95-8494-01A-11D-2323-08 TCGA-95-8494-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx db6db3f7-ac97-46eb-a799-efc77209a1e3 a4d83fa4-8a2d-4f51-a039-3e0b2f3e42e3 g.chr2:121036307G>A ENST00000272519.5 + 2 337 c.67G>A c.(67-69)Gga>Aga p.G23R RALB_ENST00000474855.2_Missense_Mutation_p.G45R|RALB_ENST00000470417.1_Intron|RALB_ENST00000404963.3_Missense_Mutation_p.G23R|RALB_ENST00000420510.1_Missense_Mutation_p.G23R NM_002881.2 NP_002872.1 P11234 RALB_HUMAN v-ral simian leukemia viral oncogene homolog B 23 apoptosis|cell cycle|cytokinesis|nerve growth factor receptor signaling pathway|Ras protein signal transduction|regulation of exocyst assembly|regulation of exocyst localization cytosol|midbody|plasma membrane GTP binding|GTPase activity|protein binding endometrium(3)|large_intestine(3)|lung(7)|prostate(1)|upper_aerodigestive_tract(1) 15 Prostate(154;0.122) GGTTGGCAGCGGAGGCGTTGG 0.567000 7 36 0 0 1 0 0 SLC19A3 80704 broad.mit.edu 37 2 228560705 228560705 + Missense_Mutation SNP C C T TCGA-95-8494-01A-11D-2323-08 TCGA-95-8494-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx db6db3f7-ac97-46eb-a799-efc77209a1e3 a4d83fa4-8a2d-4f51-a039-3e0b2f3e42e3 g.chr2:228560705C>T ENST00000258403.3 - 4 1143 c.1072G>A c.(1072-1074)Ggt>Agt p.G358S SLC19A3_ENST00000409287.1_Intron|SLC19A3_ENST00000541617.1_Missense_Mutation_p.G354S NM_025243.3 NP_079519.1 Q9BZV2 S19A3_HUMAN solute carrier family 19 (thiamine transporter), member 3 358 thiamine-containing compound metabolic process integral to membrane|plasma membrane folic acid binding|reduced folate carrier activity|thiamine uptake transmembrane transporter activity breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|skin(3) 30 Renal(207;0.0112)|all_lung(227;0.0335)|Lung NSC(271;0.142)|all_hematologic(139;0.21)|Esophageal squamous(248;0.236) Epithelial(121;1.58e-10)|all cancers(144;8.55e-08)|Lung(261;0.00948)|LUSC - Lung squamous cell carcinoma(224;0.0125) L-Cysteine(DB00151) AATAAAGAACCGGCATTGACA 0.463000 19 117 0 0 1 0 0 BCL6 604 broad.mit.edu 37 3 187447543 187447543 + Missense_Mutation SNP C C T rs142220629 TCGA-95-8494-01A-11D-2323-08 TCGA-95-8494-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx db6db3f7-ac97-46eb-a799-efc77209a1e3 a4d83fa4-8a2d-4f51-a039-3e0b2f3e42e3 g.chr3:187447543C>T ENST00000406870.2 - 5 1016 c.650G>A c.(649-651)cGg>cAg p.R217Q RP11-211G3.3_ENST00000437407.1_Intron|BCL6_ENST00000450123.2_Missense_Mutation_p.R217Q|RP11-211G3.3_ENST00000449623.1_Intron|BCL6_ENST00000232014.4_Missense_Mutation_p.R217Q NM_001706.4 NP_001697.2 P41182 BCL6_HUMAN B-cell CLL/lymphoma 6 217 negative regulation of B cell apoptosis|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|protein import into nucleus, translocation|regulation of germinal center formation|response to DNA damage stimulus nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.R217Q(1) central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(9)|lung(10)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 40 all_cancers(143;9.45e-12)|Ovarian(172;0.0418) OV - Ovarian serous cystadenocarcinoma(80;1.76e-18) GBM - Glioblastoma multiforme(93;0.0141) CACAGGCATCCGGACATCCCG 0.612000 """T, Mis""" """IG loci, ZNFN1A1, LCP1, PIM1, TFRC, CIITA, NACA, HSPCB, HSPCA, HIST1H4I, IL21R, POU2AF1, ARHH, EIF4A2, SFRS3""" """NHL, CLL""" 11 47 0 0 1 0 0 BCLAF1 9774 broad.mit.edu 37 6 136596780 136596780 + Missense_Mutation SNP T T G TCGA-95-8494-01A-11D-2323-08 TCGA-95-8494-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx db6db3f7-ac97-46eb-a799-efc77209a1e3 a4d83fa4-8a2d-4f51-a039-3e0b2f3e42e3 g.chr6:136596780T>G ENST00000531224.1 - 6 1994 c.1742A>C c.(1741-1743)aAg>aCg p.K581T BCLAF1_ENST00000527759.1_Missense_Mutation_p.K579T|BCLAF1_ENST00000353331.4_Missense_Mutation_p.K579T|BCLAF1_ENST00000530767.1_Missense_Mutation_p.K408T|BCLAF1_ENST00000527536.1_Missense_Mutation_p.K581T|BCLAF1_ENST00000392348.2_Missense_Mutation_p.K579T NM_001077441.1|NM_014739.2 NP_001070909.1|NP_055554.1 Q9NYF8 BCLF1_HUMAN BCL2-associated transcription factor 1 581 induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|protein binding haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1) 9 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331) TTCTTGCTCCTTCTTGACAGA 0.418000 7 170 0 0 1 0 0 GCC2 9648 broad.mit.edu 37 2 109099619 109099619 + Missense_Mutation SNP A A C TCGA-95-8494-01A-11D-2323-08 TCGA-95-8494-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx db6db3f7-ac97-46eb-a799-efc77209a1e3 a4d83fa4-8a2d-4f51-a039-3e0b2f3e42e3 g.chr2:109099619A>C ENST00000309863.6 + 12 4161 c.3447A>C c.(3445-3447)aaA>aaC p.K1149N NM_181453.3 NP_852118.1 Q8IWJ2 GCC2_HUMAN GRIP and coiled-coil domain containing 2 1149 Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum membrane|trans-Golgi network identical protein binding breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 54 AGCTGGTTAAAAAGGTAAAAT 0.343000 9 22 0 0 1 0 0 ARID1A 8289 broad.mit.edu 37 1 27056237 27056237 + Silent SNP G G A TCGA-95-8494-01A-11D-2323-08 TCGA-95-8494-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx db6db3f7-ac97-46eb-a799-efc77209a1e3 a4d83fa4-8a2d-4f51-a039-3e0b2f3e42e3 g.chr1:27056237G>A ENST00000324856.7 + 2 1604 c.1233G>A c.(1231-1233)ccG>ccA p.P411P ARID1A_ENST00000457599.2_Silent_p.P411P|ARID1A_ENST00000374152.2_Silent_p.P28P NM_006015.4 NP_006006.3 O14497 ARI1A_HUMAN AT rich interactive domain 1A (SWI-like) 411 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) CGTCAGGACCGCAGCAAGGAC 0.632000 """Mis, N, F, S, D""" """clear cell ovarian carcinoma, RCC""" 4 121 0 0 1 0 0 ICA1L 130026 broad.mit.edu 37 2 203644330 203644330 + Silent SNP G G A TCGA-95-8494-01A-11D-2323-08 TCGA-95-8494-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx db6db3f7-ac97-46eb-a799-efc77209a1e3 a4d83fa4-8a2d-4f51-a039-3e0b2f3e42e3 g.chr2:203644330G>A ENST00000392237.2 - 14 1532 c.1375C>T c.(1375-1377)Ctg>Ttg p.L459L ICA1L_ENST00000358299.2_Silent_p.L459L NM_138468.4 NP_612477.3 Q8NDH6 ICA1L_HUMAN islet cell autoantigen 1,69kDa-like 459 breast(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 TCTGCAAACAGATTGAACCAG 0.363000 13 40 0 0 1 0 0 ADAMTSL3 57188 broad.mit.edu 37 15 84566694 84566694 + Missense_Mutation SNP C C G TCGA-95-8494-01A-11D-2323-08 TCGA-95-8494-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx db6db3f7-ac97-46eb-a799-efc77209a1e3 a4d83fa4-8a2d-4f51-a039-3e0b2f3e42e3 g.chr15:84566694C>G ENST00000286744.5 + 14 1776 c.1552C>G c.(1552-1554)Cca>Gca p.P518A ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.P518A NM_207517.2 NP_997400.2 P82987 ATL3_HUMAN ADAMTS-like 3 518 TSP type-1 3. proteinaceous extracellular matrix metallopeptidase activity|zinc ion binding NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4) 130 BRCA - Breast invasive adenocarcinoma(143;0.211) GGGCTGCAATCCACAACTGAA 0.453000 12 52 0 0 1 0 0 TRIP12 9320 broad.mit.edu 37 2 230662490 230662490 + Silent SNP G G A TCGA-95-8494-01A-11D-2323-08 TCGA-95-8494-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx db6db3f7-ac97-46eb-a799-efc77209a1e3 a4d83fa4-8a2d-4f51-a039-3e0b2f3e42e3 g.chr2:230662490G>A ENST00000283943.5 - 23 3493 c.3315C>T c.(3313-3315)ttC>ttT p.F1105F TRIP12_ENST00000389044.4_Silent_p.F1153F|TRIP12_ENST00000389045.3_Silent_p.F835F|TRIP12_ENST00000543084.1_3'UTR NM_004238.1 NP_004229.1 Q14669 TRIPC_HUMAN thyroid hormone receptor interactor 12 1105 protein ubiquitination involved in ubiquitin-dependent protein catabolic process proteasome complex thyroid hormone receptor binding|ubiquitin-protein ligase activity breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 87 Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164) Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116) TCTCAGAACTGAAATAACGTT 0.403000 10 90 0 0 1 0 0 AHI1 54806 broad.mit.edu 37 6 135776901 135776901 + Missense_Mutation SNP C C T TCGA-95-8494-01A-11D-2323-08 TCGA-95-8494-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx db6db3f7-ac97-46eb-a799-efc77209a1e3 a4d83fa4-8a2d-4f51-a039-3e0b2f3e42e3 g.chr6:135776901C>T ENST00000367800.4 - 8 1531 c.1315G>A c.(1315-1317)Gag>Aag p.E439K AHI1_ENST00000327035.6_Missense_Mutation_p.E439K|AHI1_ENST00000457866.2_Missense_Mutation_p.E439K NM_001134830.1 NP_001128302.1 Q8N157 AHI1_HUMAN Abelson helper integration site 1 439 adherens junction|cilium|microtubule basal body NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(18)|ovary(1) 37 Breast(56;0.239)|Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991) TTAGGACTCTCATCAGAGCCT 0.318000 4 8 0 0 1 0 0 PPP4R2 151987 broad.mit.edu 37 3 73047268 73047268 + Silent SNP G G C TCGA-95-8494-01A-11D-2323-08 TCGA-95-8494-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx db6db3f7-ac97-46eb-a799-efc77209a1e3 a4d83fa4-8a2d-4f51-a039-3e0b2f3e42e3 g.chr3:73047268G>C ENST00000356692.5 + 2 328 c.75G>C c.(73-75)ctG>ctC p.L25L PPP4R2_ENST00000295862.9_5'UTR|PPP4R2_ENST00000495566.1_Silent_p.L25L|PPP4R2_ENST00000394284.3_Silent_p.L25L Q9NY27 PP4R2_HUMAN protein phosphatase 4, regulatory subunit 2 25 mRNA processing|protein modification process|regulation of double-strand break repair via homologous recombination|RNA splicing centrosome|nucleus|protein phosphatase 4 complex protein binding, bridging|protein phosphatase type 4 regulator activity breast(2)|endometrium(1)|large_intestine(1)|lung(3)|skin(2)|stomach(1)|urinary_tract(2) 12 Prostate(10;0.0187)|Lung SC(41;0.236) Epithelial(33;1.76e-07)|BRCA - Breast invasive adenocarcinoma(55;9.42e-05)|LUSC - Lung squamous cell carcinoma(21;0.00211)|Lung(16;0.00643)|KIRC - Kidney renal clear cell carcinoma(39;0.0164)|Kidney(39;0.0193)|OV - Ovarian serous cystadenocarcinoma(275;0.031) GTCCTGTCCTGGATCAGTTTC 0.373000 23 149 0 0 1 0 0 TAS1R2 80834 broad.mit.edu 37 1 19166219 19166219 + Silent SNP G G C TCGA-95-8494-01A-11D-2323-08 TCGA-95-8494-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx db6db3f7-ac97-46eb-a799-efc77209a1e3 a4d83fa4-8a2d-4f51-a039-3e0b2f3e42e3 g.chr1:19166219G>C ENST00000375371.3 - 6 2415 c.2394C>G c.(2392-2394)ctC>ctG p.L798L NM_152232.2 NP_689418.2 Q8TE23 TS1R2_HUMAN taste receptor, type 1, member 2 798 detection of chemical stimulus involved in sensory perception of sweet taste plasma membrane protein heterodimerization activity|taste receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1) 45 Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) Aspartame(DB00168) CCAGGAGGTTGAGCACAGTGA 0.577000 8 43 0 0 1 0 0 AHCYL2 23382 broad.mit.edu 37 7 129053479 129053479 + Missense_Mutation SNP A A T TCGA-95-8494-01A-11D-2323-08 TCGA-95-8494-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx db6db3f7-ac97-46eb-a799-efc77209a1e3 a4d83fa4-8a2d-4f51-a039-3e0b2f3e42e3 g.chr7:129053479A>T ENST00000325006.3 + 12 1465 c.1411A>T c.(1411-1413)Aat>Tat p.N471Y AHCYL2_ENST00000446544.2_Missense_Mutation_p.N470Y|AHCYL2_ENST00000531335.2_Missense_Mutation_p.N390Y|AHCYL2_ENST00000474594.1_Missense_Mutation_p.N368Y|AHCYL2_ENST00000490911.1_Missense_Mutation_p.N368Y|AHCYL2_ENST00000446212.1_Missense_Mutation_p.N369Y NM_001130720.2|NM_015328.3 NP_001124192.1|NP_056143.1 Q96HN2 SAHH3_HUMAN adenosylhomocysteinase-like 2 471 one-carbon metabolic process adenosylhomocysteinase activity p.N471Y(1) breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(4)|ovary(2)|upper_aerodigestive_tract(1) 22 CCGTATGAAGAATAGCTGCAT 0.423000 59 212 0 0 1 0 0 SLC13A2 9058 broad.mit.edu 37 17 26821425 26821425 + Silent SNP G G A TCGA-95-8494-01A-11D-2323-08 TCGA-95-8494-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx db6db3f7-ac97-46eb-a799-efc77209a1e3 a4d83fa4-8a2d-4f51-a039-3e0b2f3e42e3 g.chr17:26821425G>A ENST00000444914.3 + 9 1770 c.1350G>A c.(1348-1350)ctG>ctA p.L450L SLC13A2_ENST00000537681.1_Silent_p.L330L|SLC13A2_ENST00000314669.5_Silent_p.L401L|SLC13A2_ENST00000545060.1_Silent_p.L358L NM_001145975.1 NP_001139447.1 Q13183 S13A2_HUMAN solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2 401 integral to plasma membrane|membrane fraction low affinity sodium:dicarboxylate symporter activity breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 all_lung(13;0.000871)|Lung NSC(42;0.0027) UCEC - Uterine corpus endometrioid carcinoma (53;0.154) Succinic acid(DB00139) CAGGGAAGCTGAAGGCCCCTC 0.567000 OREG0024276 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 25 72 0 0 1 0 0 NOTUM 147111 broad.mit.edu 37 17 79914823 79914823 + Missense_Mutation SNP G G A TCGA-95-8494-01A-11D-2323-08 TCGA-95-8494-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx db6db3f7-ac97-46eb-a799-efc77209a1e3 a4d83fa4-8a2d-4f51-a039-3e0b2f3e42e3 g.chr17:79914823G>A ENST00000409678.3 - 7 1206 c.823C>T c.(823-825)Cgc>Tgc p.R275C NM_178493.5 NP_848588.3 Q6P988 NOTUM_HUMAN notum pectinacetylesterase homolog (Drosophila) 275 extracellular region hydrolase activity breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)|urinary_tract(1) 15 all_neural(118;0.0878)|Ovarian(332;0.12) BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0382) TCTGTGTGGCGATACTGCTTG 0.672000 15 62 0 0 1 0 0 ZNF764 92595 broad.mit.edu 37 16 30567106 30567106 + Silent SNP G G A TCGA-95-8494-01A-11D-2323-08 TCGA-95-8494-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx db6db3f7-ac97-46eb-a799-efc77209a1e3 a4d83fa4-8a2d-4f51-a039-3e0b2f3e42e3 g.chr16:30567106G>A ENST00000395091.2 - 3 948 c.633C>T c.(631-633)ttC>ttT p.F211F AC002310.13_ENST00000568114.1_Intron|ZNF764_ENST00000252797.2_Silent_p.F212F Q96H86 ZN764_HUMAN zinc finger protein 764 212 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1) 7 AAGCGTGGCCGAAGCCCTTGC 0.667000 8 29 0 0 1 0 0 ARFGEF1 10565 broad.mit.edu 37 8 68184169 68184169 + Missense_Mutation SNP G G A TCGA-95-8494-01A-11D-2323-08 TCGA-95-8494-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx db6db3f7-ac97-46eb-a799-efc77209a1e3 a4d83fa4-8a2d-4f51-a039-3e0b2f3e42e3 g.chr8:68184169G>A ENST00000262215.3 - 10 1729 c.1340C>T c.(1339-1341)tCt>tTt p.S447F NM_006421.4 NP_006412.2 Q9Y6D6 BIG1_HUMAN ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited) 447 exocytosis|regulation of ARF protein signal transduction cytoplasm ARF guanyl-nucleotide exchange factor activity|myosin binding breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 65 Breast(64;0.214) Lung NSC(129;0.0908)|all_lung(136;0.152) Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206) TAGTTCATGAGACCTAAAATG 0.323000 6 31 0 0 1 0 0 NBPF1 55672 broad.mit.edu 37 1 16914278 16914278 + Missense_Mutation SNP C C T TCGA-95-8494-01A-11D-2323-08 TCGA-95-8494-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx db6db3f7-ac97-46eb-a799-efc77209a1e3 a4d83fa4-8a2d-4f51-a039-3e0b2f3e42e3 g.chr1:16914278C>T ENST00000430580.2 - 10 1395 c.508G>A c.(508-510)Gag>Aag p.E170K NM_017940.3 NP_060410.2 Q3BBV0 NBPF1_HUMAN neuroblastoma breakpoint family, member 1 170 NBPF 1. cytoplasm UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179) TCTTCATCCTCATCTTCGTCA 0.428000 64 387 0 0 1 0 0 ST3GAL2 6483 broad.mit.edu 37 16 70415747 70415747 + Missense_Mutation SNP C C G TCGA-95-8494-01A-11D-2323-08 TCGA-95-8494-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx db6db3f7-ac97-46eb-a799-efc77209a1e3 a4d83fa4-8a2d-4f51-a039-3e0b2f3e42e3 g.chr16:70415747C>G ENST00000393640.4 - 6 3005 c.898G>C c.(898-900)Ggg>Cgg p.G300R ST3GAL2_ENST00000342907.2_Missense_Mutation_p.G300R|RP11-529K1.4_ENST00000566960.1_RNA Q16842 SIA4B_HUMAN ST3 beta-galactoside alpha-2,3-sialyltransferase 2 300 amino sugar metabolic process extracellular region|Golgi cisterna membrane|integral to Golgi membrane beta-galactoside alpha-2,3-sialyltransferase activity breast(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1) 11 Ovarian(137;0.0694) CTGTCGGCCCCGAACCCGTAC 0.701000 13 153 0 0 1 0 0 EHD3 30845 broad.mit.edu 37 2 31467291 31467291 + Missense_Mutation SNP G G A TCGA-95-8494-01A-11D-2323-08 TCGA-95-8494-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx db6db3f7-ac97-46eb-a799-efc77209a1e3 a4d83fa4-8a2d-4f51-a039-3e0b2f3e42e3 g.chr2:31467291G>A ENST00000322054.5 + 2 664 c.379G>A c.(379-381)Gcc>Acc p.A127T EHD3_ENST00000541626.1_Missense_Mutation_p.A127T NM_014600.2 NP_055415.1 Q9NZN3 EHD3_HUMAN EH-domain containing 3 127 blood coagulation|endocytic recycling|protein homooligomerization nucleus|plasma membrane|recycling endosome membrane ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|skin(3) 33 Acute lymphoblastic leukemia(172;0.155) GAAACTCAACGCCTTTGGCAA 0.527000 15 40 0 0 1 0 0 GPR21 2844 broad.mit.edu 37 9 125797225 125797225 + Missense_Mutation SNP G G C TCGA-95-8494-01A-11D-2323-08 TCGA-95-8494-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx db6db3f7-ac97-46eb-a799-efc77209a1e3 a4d83fa4-8a2d-4f51-a039-3e0b2f3e42e3 g.chr9:125797225G>C ENST00000373642.1 + 1 420 c.380G>C c.(379-381)aGa>aCa p.R127T RABGAP1_ENST00000493854.1_Intron|RABGAP1_ENST00000373643.5_Intron|RABGAP1_ENST00000373647.4_Intron NM_005294.1 NP_005285.1 Q99679 GPR21_HUMAN G protein-coupled receptor 21 127 integral to plasma membrane G-protein coupled receptor activity endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2) 15 AGCATTGATAGATACATTGCC 0.438000 21 38 0 0 1 0 0 KIF4A 24137 broad.mit.edu 37 X 69563592 69563592 + Missense_Mutation SNP G G C TCGA-95-8494-01A-11D-2323-08 TCGA-95-8494-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx db6db3f7-ac97-46eb-a799-efc77209a1e3 a4d83fa4-8a2d-4f51-a039-3e0b2f3e42e3 g.chrX:69563592G>C ENST00000374403.3 + 12 1388 c.1306G>C c.(1306-1308)Gag>Cag p.E436Q KIF4A_ENST00000374388.3_Missense_Mutation_p.E436Q NM_012310.4 NP_036442.3 O95239 KIF4A_HUMAN kinesin family member 4A 436 anterograde axon cargo transport|axon guidance|blood coagulation|organelle organization chromosome|cytosol|midbody|nuclear matrix|spindle microtubule ATP binding|DNA binding|microtubule motor activity|protein binding breast(6)|endometrium(9)|kidney(3)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 51 CAAGCTAGAAGAGCTCAGGCA 0.468000 15 11 0 0 1 0 0 LOC644669 644669 broad.mit.edu 37 18 15323276 15323276 + RNA SNP A A T TCGA-95-8494-01A-11D-2323-08 TCGA-95-8494-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx db6db3f7-ac97-46eb-a799-efc77209a1e3 a4d83fa4-8a2d-4f51-a039-3e0b2f3e42e3 g.chr18:15323276A>T ENST00000455308.2 - 0 572 NR_027417.1 ATCAACTGCAATTGCATTTGC 0.308000 5 9 0 0 1 0 0 LPPR4 9890 broad.mit.edu 37 1 99771602 99771602 + Missense_Mutation SNP G G C TCGA-95-8494-01A-11D-2323-08 TCGA-95-8494-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx db6db3f7-ac97-46eb-a799-efc77209a1e3 a4d83fa4-8a2d-4f51-a039-3e0b2f3e42e3 g.chr1:99771602G>C ENST00000370185.3 + 7 1825 c.1328G>C c.(1327-1329)cGa>cCa p.R443P LPPR4_ENST00000457765.1_Missense_Mutation_p.R385P|LPPR4_ENST00000370184.1_Missense_Mutation_p.R285P NM_014839.4 NP_055654.2 Q7Z2D5 LPPR4_HUMAN 443 phosphatidate phosphatase activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 72 all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202) Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22) GATTCCGCTCGATCAAAGCAG 0.498000 22 119 0 0 1 0 0 APC2 10297 broad.mit.edu 37 19 1467098 1467098 + Silent SNP G G A TCGA-95-8494-01A-11D-2323-08 TCGA-95-8494-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx db6db3f7-ac97-46eb-a799-efc77209a1e3 a4d83fa4-8a2d-4f51-a039-3e0b2f3e42e3 g.chr19:1467098G>A ENST00000535453.1 + 14 5511 c.3798G>A c.(3796-3798)gaG>gaA p.E1266E APC2_ENST00000238483.4_Silent_p.E992E|C19orf25_ENST00000588427.1_Intron|APC2_ENST00000233607.2_Silent_p.E1266E O95996 APC2_HUMAN adenomatosis polyposis coli 2 1266 5 X 20 AA approximate repeat of F-X-V-E- X-T-P-X-C-F-S-R-X-S-S-L-S-S-L-S.|Interaction with CTNNB1. negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|Wnt receptor signaling pathway actin filament|catenin complex|cytoplasmic microtubule|Golgi membrane|lamellipodium membrane|perinuclear region of cytoplasm beta-catenin binding|microtubule binding breast(3)|cervix(1)|kidney(4)|large_intestine(2)|lung(5)|pancreas(1)|skin(2) 18 Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) TTACCGTGGAGAAGCCAGACG 0.672000 7 33 0 0 1 0 0 ZAN 7455 broad.mit.edu 37 7 100334138 100334138 + RNA SNP G G A TCGA-95-8494-01A-11D-2323-08 TCGA-95-8494-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx db6db3f7-ac97-46eb-a799-efc77209a1e3 a4d83fa4-8a2d-4f51-a039-3e0b2f3e42e3 g.chr7:100334138G>A ENST00000542585.1 + 0 287 ZAN_ENST00000349350.6_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000443370.1_RNA NM_003386.1 NP_003377.1 Q9Y493 ZAN_HUMAN zonadhesin (gene/pseudogene) binding of sperm to zona pellucida|cell-cell adhesion integral to membrane|plasma membrane NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3) 139 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) TGAGGATGACGCCAAACCCCT 0.627000 226 409 0 0 1 0 0 MICAL2 9645 broad.mit.edu 37 11 12265536 12265536 + Missense_Mutation SNP T T G TCGA-95-8494-01A-11D-2323-08 TCGA-95-8494-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx db6db3f7-ac97-46eb-a799-efc77209a1e3 a4d83fa4-8a2d-4f51-a039-3e0b2f3e42e3 g.chr11:12265536T>G ENST00000256194.4 + 21 2949 c.2661T>G c.(2659-2661)aaT>aaG p.N887K MICAL2_ENST00000537344.1_Intron|MICAL2_ENST00000527546.1_Intron|MICAL2_ENST00000342902.5_Missense_Mutation_p.N887K|MICAL2_ENST00000379612.3_Intron NM_014632.2 NP_055447.1 O94851 MICA2_HUMAN microtubule associated monooxygenase, calponin and LIM domain containing 2 887 cytoplasm|cytoskeleton monooxygenase activity|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 47 Epithelial(150;0.00552) CTGTGCAGAATAAACTACTCT 0.478000 61 55 0 0 1 0 0 KRBA1 84626 broad.mit.edu 37 7 149430610 149430610 + Missense_Mutation SNP C C T TCGA-95-8494-01A-11D-2323-08 TCGA-95-8494-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx db6db3f7-ac97-46eb-a799-efc77209a1e3 a4d83fa4-8a2d-4f51-a039-3e0b2f3e42e3 g.chr7:149430610C>T ENST00000255992.10 + 18 2963 c.2564C>T c.(2563-2565)aCc>aTc p.T855I KRBA1_ENST00000485033.2_Missense_Mutation_p.T795I|KRBA1_ENST00000319551.8_Missense_Mutation_p.T795I|KRBA1_ENST00000479560.1_3'UTR NM_032534.2 NP_115923.2 A5PL33 KRBA1_HUMAN KRAB-A domain containing 1 856 breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(17)|ovary(1)|prostate(1) 27 Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) TGGATGTGGACCCTCCCACGG 0.652000 8 21 0 0 1 0 0 MZB1 51237 broad.mit.edu 37 5 138723467 138723467 + Missense_Mutation SNP C C G TCGA-95-8494-01A-11D-2323-08 TCGA-95-8494-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx db6db3f7-ac97-46eb-a799-efc77209a1e3 a4d83fa4-8a2d-4f51-a039-3e0b2f3e42e3 g.chr5:138723467C>G ENST00000302125.8 - 4 614 c.557G>C c.(556-558)aGa>aCa p.R186T MZB1_ENST00000412103.2_Missense_Mutation_p.R94T NM_016459.3 NP_057543.2 Q8WU39 PERP1_HUMAN marginal zone B and B1 cell-specific protein 186 apoptosis|positive regulation of immunoglobulin biosynthetic process cytoplasm|endoplasmic reticulum chaperone complex protein binding GAGCTCTTCTCTTGTGGCTGA 0.607000 24 122 0 0 1 0 0 TLL2 7093 broad.mit.edu 37 10 98170231 98170231 + Splice_Site SNP G G A TCGA-95-8494-01A-11D-2323-08 TCGA-95-8494-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx db6db3f7-ac97-46eb-a799-efc77209a1e3 a4d83fa4-8a2d-4f51-a039-3e0b2f3e42e3 g.chr10:98170231G>A ENST00000357947.3 - 9 1274 c.1048_splice c.e9-1 p.A350_splice TLL2_ENST00000469598.1_5'UTR NM_012465.3 NP_036597.1 Q9Y6L7 TLL2_HUMAN tolloid-like 2 350 Metalloprotease (By similarity). 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) CTCCCCACACGCTGCACAAGC 0.577000 15 22 0 0 1 0 0 EOMES 8320 broad.mit.edu 37 3 27760382 27760382 + Missense_Mutation SNP C C T TCGA-95-8494-01A-11D-2323-08 TCGA-95-8494-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx db6db3f7-ac97-46eb-a799-efc77209a1e3 a4d83fa4-8a2d-4f51-a039-3e0b2f3e42e3 g.chr3:27760382C>T ENST00000295743.4 - 4 1364 c.1161G>A c.(1159-1161)atG>atA p.M387I EOMES_ENST00000449599.1_Missense_Mutation_p.M387I|EOMES_ENST00000461503.1_5'UTR|EOMES_ENST00000537516.1_Missense_Mutation_p.M92I O95936 EOMES_HUMAN eomesodermin 387 CD8-positive, alpha-beta T cell differentiation involved in immune response|cell differentiation involved in embryonic placenta development|endoderm formation|mesoderm formation|mesodermal to mesenchymal transition involved in gastrulation|positive regulation of transcription, DNA-dependent nucleus DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(1) 21 GTAAGACTATCATCTGGAAAG 0.368000 7 30 0 0 1 0 0 PLD5 200150 broad.mit.edu 37 1 242277283 242277283 + Missense_Mutation SNP C C G TCGA-95-8494-01A-11D-2323-08 TCGA-95-8494-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx db6db3f7-ac97-46eb-a799-efc77209a1e3 a4d83fa4-8a2d-4f51-a039-3e0b2f3e42e3 g.chr1:242277283C>G ENST00000442594.2 - 8 1212 c.703G>C c.(703-705)Gat>Cat p.D235H PLD5_ENST00000427495.1_Missense_Mutation_p.D265H|PLD5_ENST00000536534.1_Missense_Mutation_p.D327H NM_152666.2 NP_689879.2 Q8N7P1 PLD5_HUMAN phospholipase D family, member 5 327 PLD phosphodiesterase 1. integral to membrane catalytic activity breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(22)|ovary(6)|skin(3)|urinary_tract(1) 55 Melanoma(84;0.242) OV - Ovarian serous cystadenocarcinoma(106;0.0329) TAGATGGCATCTATGTCAAAA 0.423000 14 73 0 0 1 0 0 PTGR2 145482 broad.mit.edu 37 14 74343732 74343732 + Nonsense_Mutation SNP C C A TCGA-95-8494-01A-11D-2323-08 TCGA-95-8494-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx db6db3f7-ac97-46eb-a799-efc77209a1e3 a4d83fa4-8a2d-4f51-a039-3e0b2f3e42e3 g.chr14:74343732C>A ENST00000555661.1 + 5 525 c.380C>A c.(379-381)tCa>tAa p.S127* PTGR2_ENST00000554885.1_Nonsense_Mutation_p.S78*|RP5-1021I20.4_ENST00000553813.1_5'UTR|PTGR2_ENST00000555228.1_Nonsense_Mutation_p.S127*|PTGR2_ENST00000267568.4_Nonsense_Mutation_p.S127* Q8N8N7 PTGR2_HUMAN prostaglandin reductase 2 127 prostaglandin metabolic process 15-oxoprostaglandin 13-oxidase activity|zinc ion binding NS(1)|large_intestine(3)|lung(2)|prostate(1)|skin(2) 9 GGACACCTTTCATATTTTCTT 0.363000 10 34 0.00621372 0.00633967 1 1 0 ABCF3 55324 broad.mit.edu 37 3 183907648 183907648 + Missense_Mutation SNP C C G TCGA-95-8494-01A-11D-2323-08 TCGA-95-8494-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx db6db3f7-ac97-46eb-a799-efc77209a1e3 a4d83fa4-8a2d-4f51-a039-3e0b2f3e42e3 g.chr3:183907648C>G ENST00000429586.2 + 14 1505 c.1320C>G c.(1318-1320)ttC>ttG p.F440L EIF2B5_ENST00000444495.1_Intron|ABCF3_ENST00000292808.5_Missense_Mutation_p.F434L NM_018358.2 NP_060828.2 Q9NUQ8 ABCF3_HUMAN ATP-binding cassette, sub-family F (GCN20), member 3 440 ATP binding|ATPase activity breast(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(20)|ovary(3)|prostate(5)|upper_aerodigestive_tract(1) 39 all_cancers(143;1.12e-10)|Ovarian(172;0.0339) Epithelial(37;2.35e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) TGCAGGTTTTCATTGACCGGT 0.577000 37 84 0 0 1 0 0 MYO7B 4648 broad.mit.edu 37 2 128341856 128341856 + Silent SNP C C T rs139033746 by1000genomes TCGA-95-8494-01A-11D-2323-08 TCGA-95-8494-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx db6db3f7-ac97-46eb-a799-efc77209a1e3 a4d83fa4-8a2d-4f51-a039-3e0b2f3e42e3 g.chr2:128341856C>T ENST00000389524.4 + 13 1556 c.1503C>T c.(1501-1503)ctC>ctT p.L501L MYO7B_ENST00000428314.1_Silent_p.L501L|MYO7B_ENST00000409816.2_Silent_p.L501L Q6PIF6 MYO7B_HUMAN myosin VIIB 501 Myosin head-like. apical plasma membrane|myosin complex actin binding|ATP binding|motor activity breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1) 75 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0753) TGCTGGCCCTCAAGCCCATGA 0.602000 15 67 0 0 1 0 0 ZFAND2B 130617 broad.mit.edu 37 2 220072627 220072627 + Nonsense_Mutation SNP G G T TCGA-95-8494-01A-11D-2323-08 TCGA-95-8494-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx db6db3f7-ac97-46eb-a799-efc77209a1e3 a4d83fa4-8a2d-4f51-a039-3e0b2f3e42e3 g.chr2:220072627G>T ENST00000409594.1 + 4 496 c.301G>T c.(301-303)Gaa>Taa p.E101* ZFAND2B_ENST00000289528.5_Nonsense_Mutation_p.E101*|ZFAND2B_ENST00000409412.1_Nonsense_Mutation_p.E101*|ZFAND2B_ENST00000444522.2_Nonsense_Mutation_p.E101*|ZFAND2B_ENST00000409217.1_Nonsense_Mutation_p.E101*|ZFAND2B_ENST00000409336.1_Nonsense_Mutation_p.E101*|ZFAND2B_ENST00000409319.1_Nonsense_Mutation_p.E101*|ZFAND2B_ENST00000409206.1_Nonsense_Mutation_p.E101*|ZFAND2B_ENST00000409097.1_Nonsense_Mutation_p.E101*|ZFAND2B_ENST00000468301.1_3'UTR Q8WV99 ZFN2B_HUMAN zinc finger, AN1-type domain 2B 101 endoplasmic reticulum protein binding|zinc ion binding endometrium(2)|kidney(4)|lung(4)|upper_aerodigestive_tract(1) 11 Renal(207;0.0915) Epithelial(149;1.16e-06)|all cancers(144;0.000191)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) CAATAAGTGTGAACGCGCTGG 0.522000 21 96 3.62473e-10 3.88181e-10 1 1 0 PHTF2 57157 broad.mit.edu 37 7 77558459 77558459 + Missense_Mutation SNP C C T TCGA-95-8494-01A-11D-2323-08 TCGA-95-8494-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx db6db3f7-ac97-46eb-a799-efc77209a1e3 a4d83fa4-8a2d-4f51-a039-3e0b2f3e42e3 g.chr7:77558459C>T ENST00000416283.2 + 10 1177 c.1051C>T c.(1051-1053)Cgc>Tgc p.R351C PHTF2_ENST00000275575.7_Missense_Mutation_p.R347C|PHTF2_ENST00000307305.8_Missense_Mutation_p.R347C|PHTF2_ENST00000424760.1_Missense_Mutation_p.R347C|PHTF2_ENST00000454592.1_3'UTR|PHTF2_ENST00000422959.2_Missense_Mutation_p.R351C|PHTF2_ENST00000248550.7_Missense_Mutation_p.R385C NM_001127357.1|NM_020432.4 NP_001120829.1|NP_065165.3 Q8N3S3 PHTF2_HUMAN putative homeodomain transcription factor 2 385 regulation of transcription, DNA-dependent|transcription, DNA-dependent endoplasmic reticulum|nucleus DNA binding endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1) 19 TTGCAGCTCTCGCTGTTCAAG 0.408000 7 46 0 0 1 0 0 LAMC2 3918 broad.mit.edu 37 1 183201964 183201964 + Missense_Mutation SNP C C T TCGA-95-8494-01A-11D-2323-08 TCGA-95-8494-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx db6db3f7-ac97-46eb-a799-efc77209a1e3 a4d83fa4-8a2d-4f51-a039-3e0b2f3e42e3 g.chr1:183201964C>T ENST00000264144.4 + 14 2257 c.2192C>T c.(2191-2193)gCa>gTa p.A731V LAMC2_ENST00000493293.1_Missense_Mutation_p.A731V NM_005562.2 NP_005553.2 Q13753 LAMC2_HUMAN laminin, gamma 2 731 Domain II and I. cell adhesion|epidermis development|hemidesmosome assembly heparin binding breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 55 CTGAGCCTGGCAGAAAGTGAA 0.493000 23 109 0 0 1 0 0 CDH16 1014 broad.mit.edu 37 16 66947161 66947161 + Silent SNP C C T rs111577617 TCGA-95-8494-01A-11D-2323-08 TCGA-95-8494-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx db6db3f7-ac97-46eb-a799-efc77209a1e3 a4d83fa4-8a2d-4f51-a039-3e0b2f3e42e3 g.chr16:66947161C>T ENST00000299752.4 - 9 1120 c.927G>A c.(925-927)caG>caA p.Q309Q CDH16_ENST00000565796.1_Silent_p.Q309Q|CDH16_ENST00000570262.1_Silent_p.Q229Q|CDH16_ENST00000394055.3_Silent_p.Q309Q|CDH16_ENST00000568632.1_Silent_p.Q212Q NM_001204744.1|NM_001204745.1|NM_004062.3 NP_001191673.1|NP_001191674.1|NP_004053.1 O75309 CAD16_HUMAN cadherin 16, KSP-cadherin 309 Cadherin 3. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 41 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203) CATGGGAATTCTGAGCCCGCA 0.627000 29 100 0 0 1 0 0 HPS1 3257 broad.mit.edu 37 10 100185701 100185701 + Silent SNP A A T TCGA-95-8494-01A-11D-2323-08 TCGA-95-8494-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx db6db3f7-ac97-46eb-a799-efc77209a1e3 a4d83fa4-8a2d-4f51-a039-3e0b2f3e42e3 g.chr10:100185701A>T ENST00000325103.6 - 12 1262 c.1029T>A c.(1027-1029)ccT>ccA p.P343P HPS1_ENST00000467246.1_5'UTR|HPS1_ENST00000361490.4_Silent_p.P343P NM_000195.3 NP_000186.2 Q92902 HPS1_HUMAN Hermansky-Pudlak syndrome 1 343 lysosome organization|response to stimulus|visual perception cytoplasmic membrane-bounded vesicle|integral to plasma membrane|lysosome|membrane fraction|soluble fraction protein dimerization activity breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 23 Colorectal(252;0.234) Epithelial(162;3.87e-12)|all cancers(201;5.63e-10) CGGAAGGCACAGGGCAGTGGG 0.587000 Hermansky-Pudlak syndrome OREG0020430 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 55 108 0 0 1 0 0 OR5H14 403273 broad.mit.edu 37 3 97868994 97868994 + Silent SNP C C T rs140385435 TCGA-95-8494-01A-11D-2323-08 TCGA-95-8494-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx db6db3f7-ac97-46eb-a799-efc77209a1e3 a4d83fa4-8a2d-4f51-a039-3e0b2f3e42e3 g.chr3:97868994C>T ENST00000437310.1 + 1 825 c.765C>T c.(763-765)ctC>ctT p.L255L NM_001005514.1 NP_001005514.1 A6NHG9 O5H14_HUMAN olfactory receptor, family 5, subfamily H, member 14 255 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 31 ATGGGCCCCTCGCCTTCATGT 0.413000 11 52 0 0 1 0 0 SETBP1 26040 broad.mit.edu 37 18 42530226 42530226 + Silent SNP G G A TCGA-95-8494-01A-11D-2323-08 TCGA-95-8494-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx db6db3f7-ac97-46eb-a799-efc77209a1e3 a4d83fa4-8a2d-4f51-a039-3e0b2f3e42e3 g.chr18:42530226G>A ENST00000282030.5 + 4 1217 c.921G>A c.(919-921)gaG>gaA p.E307E NM_015559.2 NP_056374.2 Q9Y6X0 SETBP_HUMAN SET binding protein 1 307 nucleus DNA binding NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 104 Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201) GCTCTGCTGAGTGCAACGGGC 0.547000 Schinzel-Giedion syndrome 56 67 0 0 1 0 0 TMEM132B 114795 broad.mit.edu 37 12 126138782 126138782 + Silent SNP G G A TCGA-95-8494-01A-11D-2323-08 TCGA-95-8494-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx db6db3f7-ac97-46eb-a799-efc77209a1e3 a4d83fa4-8a2d-4f51-a039-3e0b2f3e42e3 g.chr12:126138782G>A ENST00000299308.3 + 9 2771 c.2763G>A c.(2761-2763)gcG>gcA p.A921A TMEM132B_ENST00000535886.1_Silent_p.A433A NM_052907.2 NP_443139.2 Q14DG7 T132B_HUMAN transmembrane protein 132B 921 integral to membrane p.A921A(1) NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1) 107 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362) ACTGCGTGGCGTTTGCCTGGA 0.522000 4 144 0 0 1 0 0 BTBD3 22903 broad.mit.edu 37 20 11899001 11899001 + Silent SNP C C G TCGA-95-8494-01A-11D-2323-08 TCGA-95-8494-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx db6db3f7-ac97-46eb-a799-efc77209a1e3 a4d83fa4-8a2d-4f51-a039-3e0b2f3e42e3 g.chr20:11899001C>G ENST00000405977.1 + 2 703 c.78C>G c.(76-78)tcC>tcG p.S26S RP4-742J24.2_ENST00000439529.1_RNA|BTBD3_ENST00000399006.2_5'UTR|BTBD3_ENST00000254977.3_5'UTR|BTBD3_ENST00000378226.2_Silent_p.S26S Q9Y2F9 BTBD3_HUMAN BTB (POZ) domain containing 3 26 breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(18)|ovary(3)|skin(2) 34 AGAACAGGTCCAAGAAAAGCT 0.403000 109 220 0 0 1 0 0 WDR11 55717 broad.mit.edu 37 10 122648679 122648679 + Silent SNP G G A TCGA-95-8494-01A-11D-2323-08 TCGA-95-8494-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx db6db3f7-ac97-46eb-a799-efc77209a1e3 a4d83fa4-8a2d-4f51-a039-3e0b2f3e42e3 g.chr10:122648679G>A ENST00000263461.6 + 17 2457 c.2211G>A c.(2209-2211)ttG>ttA p.L737L WDR11_ENST00000604509.1_3'UTR NM_018117.11 NP_060587.8 Q9BZH6 WDR11_HUMAN WD repeat domain 11 737 integral to membrane breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(9)|prostate(2)|skin(2)|stomach(5) 38 TCTGGGACTTGAAAGGCAGAG 0.338000 25 120 0 0 1 0 0 ROBO2 6092 broad.mit.edu 37 3 75986735 75986735 + Missense_Mutation SNP G G A TCGA-95-8494-01A-11D-2323-08 TCGA-95-8494-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx db6db3f7-ac97-46eb-a799-efc77209a1e3 a4d83fa4-8a2d-4f51-a039-3e0b2f3e42e3 g.chr3:75986735G>A ENST00000487694.3 + 2 370 c.91G>A c.(91-93)Ggg>Agg p.G31R NM_001128929.2 NP_001122401.1 Q9HCK4 ROBO2_HUMAN roundabout, axon guidance receptor, homolog 2 (Drosophila) 0 Ig-like C2-type 1. apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development axolemma|cell surface|integral to membrane axon guidance receptor activity|identical protein binding NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1) 117 Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103) GGGTCATCAGGGGAATGGACA 0.443000 3 31 0 0 1 0 0 IDH1 3417 broad.mit.edu 37 2 209113202 209113202 + Missense_Mutation SNP A A G TCGA-95-8494-01A-11D-2323-08 TCGA-95-8494-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx db6db3f7-ac97-46eb-a799-efc77209a1e3 a4d83fa4-8a2d-4f51-a039-3e0b2f3e42e3 g.chr2:209113202A>G ENST00000415913.1 - 4 686 c.305T>C c.(304-306)aTt>aCt p.I102T IDH1_ENST00000345146.2_Missense_Mutation_p.I102T|IDH1_ENST00000446179.1_Missense_Mutation_p.I102T O75874 IDHC_HUMAN isocitrate dehydrogenase 1 (NADP+), soluble 102 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 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) GCCACCCAGAATATTTCGTAT 0.448000 Mis gliobastoma 9 73 0 0 1 0 0 B3GNT3 10331 broad.mit.edu 37 19 17922596 17922596 + Missense_Mutation SNP G G A TCGA-95-8494-01A-11D-2323-08 TCGA-95-8494-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx db6db3f7-ac97-46eb-a799-efc77209a1e3 a4d83fa4-8a2d-4f51-a039-3e0b2f3e42e3 g.chr19:17922596G>A ENST00000318683.6 + 3 931 c.784G>A c.(784-786)Gag>Aag p.E262K B3GNT3_ENST00000595387.1_Missense_Mutation_p.E262K NM_014256.3 NP_055071.2 Q9Y2A9 B3GN3_HUMAN UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 3 262 protein glycosylation Golgi membrane|integral to plasma membrane galactosyltransferase activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1) 21 GACTCAGAATGAGCGGTACCC 0.612000 30 65 0 0 1 0 0 SYT6 148281 broad.mit.edu 37 1 114680328 114680328 + Missense_Mutation SNP C C T TCGA-95-8494-01A-11D-2323-08 TCGA-95-8494-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx db6db3f7-ac97-46eb-a799-efc77209a1e3 a4d83fa4-8a2d-4f51-a039-3e0b2f3e42e3 g.chr1:114680328C>T ENST00000393296.1 - 3 937 c.860G>A c.(859-861)cGc>cAc p.R287H SYT6_ENST00000369547.1_Missense_Mutation_p.R202H Q5T7P8 SYT6_HUMAN synaptotagmin VI 287 C2 1. acrosomal vesicle exocytosis cell junction|cytosol|integral to membrane|perinuclear endoplasmic reticulum|peripheral to membrane of membrane fraction|synaptic vesicle membrane clathrin binding|metal ion binding|protein homodimerization activity|syntaxin binding|transporter activity central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 37 Lung SC(450;0.184) all_cancers(81;4.41e-08)|all_epithelial(167;5.18e-08)|all_lung(203;1.58e-05)|Lung NSC(69;2.82e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) CAGGGTCTTGCGGTGCACCCG 0.547000 4 110 0 0 1 0 0 B4GALT5 9334 broad.mit.edu 37 20 48259055 48259055 + Missense_Mutation SNP G G A TCGA-95-8494-01A-11D-2323-08 TCGA-95-8494-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx db6db3f7-ac97-46eb-a799-efc77209a1e3 a4d83fa4-8a2d-4f51-a039-3e0b2f3e42e3 g.chr20:48259055G>A ENST00000371711.4 - 5 743 c.556C>T c.(556-558)Ccc>Tcc p.P186S NM_004776.3 NP_004767.1 O43286 B4GT5_HUMAN UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 5 186 post-translational protein modification|protein N-linked glycosylation via asparagine Golgi cisterna membrane|integral to membrane galactosyltransferase activity|metal ion binding breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 20 BRCA - Breast invasive adenocarcinoma(9;2.51e-06) TGGAGCATGGGAAGCAGGTGT 0.498000 40 74 0 0 1 0 0 CHCHD3 54927 broad.mit.edu 37 7 132570490 132570490 + Missense_Mutation SNP C C T TCGA-95-8494-01A-11D-2323-08 TCGA-95-8494-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx db6db3f7-ac97-46eb-a799-efc77209a1e3 a4d83fa4-8a2d-4f51-a039-3e0b2f3e42e3 g.chr7:132570490C>T ENST00000262570.5 - 5 529 c.385G>A c.(385-387)Gag>Aag p.E129K CHCHD3_ENST00000476546.1_5'UTR|CHCHD3_ENST00000448878.1_Missense_Mutation_p.E134K NM_017812.2 NP_060282.1 Q9NX63 CHCH3_HUMAN coiled-coil-helix-coiled-coil-helix domain containing 3 129 inner mitochondrial membrane organization|mitochondrial fusion mitochondrial inner membrane protein complex scaffold endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1) 7 CGGTCTTTCTCTTCCAGCTGC 0.363000 10 102 0 0 1 0 0 ROBO2 6092 broad.mit.edu 37 3 77089948 77089948 + Silent SNP G G A TCGA-95-8494-01A-11D-2323-08 TCGA-95-8494-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx db6db3f7-ac97-46eb-a799-efc77209a1e3 a4d83fa4-8a2d-4f51-a039-3e0b2f3e42e3 g.chr3:77089948G>A ENST00000461745.1 + 1 912 c.12G>A c.(10-12)ctG>ctA p.L4L ROBO2_ENST00000487694.3_Intron|ROBO2_ENST00000332191.8_Silent_p.L4L NM_002942.4 NP_002933.1 Q9HCK4 ROBO2_HUMAN roundabout, axon guidance receptor, homolog 2 (Drosophila) 4 apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development axolemma|cell surface|integral to membrane axon guidance receptor activity|identical protein binding NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1) 117 Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103) TGAGTCTGCTGATGTTTACAC 0.378000 21 101 0 0 1 0 0 TNN 63923 broad.mit.edu 37 1 175066664 175066664 + Missense_Mutation SNP C C G TCGA-95-8494-01A-11D-2323-08 TCGA-95-8494-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx db6db3f7-ac97-46eb-a799-efc77209a1e3 a4d83fa4-8a2d-4f51-a039-3e0b2f3e42e3 g.chr1:175066664C>G ENST00000239462.4 + 8 1813 c.1700C>G c.(1699-1701)tCt>tGt p.S567C NM_022093.1 NP_071376.1 Q9UQP3 TENN_HUMAN tenascin N 567 Fibronectin type-III 4. cell growth|cell migration|signal transduction extracellular space|proteinaceous extracellular matrix NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 156 Breast(1374;0.000962) KIRC - Kidney renal clear cell carcinoma(1967;0.00198) CGCTACACCTCTGCTGACGAC 0.592000 13 57 0 0 1 0 0 DNASE1 1773 broad.mit.edu 37 16 3707076 3707076 + Silent SNP C C T TCGA-95-8494-01A-11D-2323-08 TCGA-95-8494-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx db6db3f7-ac97-46eb-a799-efc77209a1e3 a4d83fa4-8a2d-4f51-a039-3e0b2f3e42e3 g.chr16:3707076C>T ENST00000246949.5 + 6 3722 c.513C>T c.(511-513)gaC>gaT p.D171D DNASE1_ENST00000407479.1_Silent_p.D171D|DNASE1_ENST00000414110.2_Intron NM_005223.3 NP_005214.2 P24855 DNAS1_HUMAN deoxyribonuclease I 171 apoptosis|DNA catabolic process extracellular region|nuclear envelope actin binding|deoxyribonuclease I activity lung(1) 1 Ovarian(90;0.0261) Kidney(780;0.0556) Dornase Alfa(DB00003) CTCTCTATGACGTCTACCTGG 0.647000 13 60 0 0 1 0 0 TRAPPC8 22878 broad.mit.edu 37 18 29453502 29453502 + Splice_Site SNP C C T TCGA-95-8494-01A-11D-2323-08 TCGA-95-8494-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx db6db3f7-ac97-46eb-a799-efc77209a1e3 a4d83fa4-8a2d-4f51-a039-3e0b2f3e42e3 g.chr18:29453502C>T ENST00000283351.4 - 14 2289 c.e14-1 TRAPPC8_ENST00000582539.1_Splice_Site NM_014939.3 NP_055754.2 Q9Y2L5 TPPC8_HUMAN trafficking protein particle complex 8 ER to Golgi vesicle-mediated transport cis-Golgi network breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(7)|liver(2)|lung(13)|ovary(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 47 GACTTACATTCTGAGAGAAAT 0.353000 4 20 0 0 1 0 0 BNC2 54796 broad.mit.edu 37 9 16437286 16437286 + Silent SNP C C T TCGA-95-8494-01A-11D-2323-08 TCGA-95-8494-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx db6db3f7-ac97-46eb-a799-efc77209a1e3 a4d83fa4-8a2d-4f51-a039-3e0b2f3e42e3 g.chr9:16437286C>T ENST00000380672.4 - 6 963 c.906G>A c.(904-906)gaG>gaA p.E302E BNC2_ENST00000545497.1_Silent_p.E207E|BNC2_ENST00000380667.2_Silent_p.E235E|BNC2_ENST00000380666.2_Silent_p.E302E NM_017637.5 NP_060107.3 Q6ZN30 BNC2_HUMAN basonuclin 2 302 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane zinc ion binding p.E302E(1) NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2) 60 GBM - Glioblastoma multiforme(50;9.01e-08) GATTGCTGTTCTCTAAGTGAG 0.473000 54 143 0 0 1 0 0 DRC1 92749 broad.mit.edu 37 2 26652621 26652621 + Silent SNP C C G TCGA-95-8494-01A-11D-2323-08 TCGA-95-8494-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx db6db3f7-ac97-46eb-a799-efc77209a1e3 a4d83fa4-8a2d-4f51-a039-3e0b2f3e42e3 g.chr2:26652621C>G ENST00000288710.2 + 5 740 c.666C>G c.(664-666)ctC>ctG p.L222L NM_145038.2 NP_659475.2 dynein regulatory complex subunit 1 homolog (Chlamydomonas) GTGAGGAGCTCTATAACATTG 0.483000 16 67 0 0 1 0 0 MRPL11 65003 broad.mit.edu 37 11 66204683 66204683 + Missense_Mutation SNP C C T TCGA-95-8494-01A-11D-2323-08 TCGA-95-8494-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx db6db3f7-ac97-46eb-a799-efc77209a1e3 a4d83fa4-8a2d-4f51-a039-3e0b2f3e42e3 g.chr11:66204683C>T ENST00000310999.7 - 4 458 c.365G>A c.(364-366)cGc>cAc p.R122H MRPL11_ENST00000524576.1_5'UTR|MRPL11_ENST00000430466.2_Missense_Mutation_p.R96H|MRPL11_ENST00000329819.4_Missense_Mutation_p.R122H NM_016050.3 NP_057134.1 Q9Y3B7 RM11_HUMAN mitochondrial ribosomal protein L11 122 translation structural constituent of ribosome endometrium(3)|lung(2)|ovary(1)|prostate(1) 7 AGCTTTGATGCGGGCAATCTC 0.562000 35 59 0 0 1 0 0 CDH9 1007 broad.mit.edu 37 5 26902807 26902807 + Missense_Mutation SNP G G T TCGA-95-8494-01A-11D-2323-08 TCGA-95-8494-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx db6db3f7-ac97-46eb-a799-efc77209a1e3 a4d83fa4-8a2d-4f51-a039-3e0b2f3e42e3 g.chr5:26902807G>T ENST00000231021.4 - 7 1203 c.1031C>A c.(1030-1032)aCt>aAt p.T344N NM_016279.3 NP_057363.3 Q9ULB4 CADH9_HUMAN cadherin 9, type 2 (T1-cadherin) 344 Cadherin 3. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 137 CACTCTTAAAGTATAGAGCAT 0.328000 16 56 6.72482e-11 7.2532e-11 1 1 0 POTEC 388468 broad.mit.edu 37 18 14537814 14537814 + Missense_Mutation SNP C C T TCGA-95-8494-01A-11D-2323-08 TCGA-95-8494-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx db6db3f7-ac97-46eb-a799-efc77209a1e3 a4d83fa4-8a2d-4f51-a039-3e0b2f3e42e3 g.chr18:14537814C>T ENST00000358970.5 - 3 795 c.796G>A c.(796-798)Gaa>Aaa p.E266K POTEC_ENST00000389891.4_5'UTR NM_001137671.1 NP_001131143.1 B2RU33 POTEC_HUMAN POTE ankyrin domain family, member C 266 NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3) 52 TTTTTTGATTCAATATCAGCA 0.348000 9 52 0 0 1 0 0 LRRC37A4P 55073 broad.mit.edu 37 17 43587569 43587569 + RNA SNP G G C rs149697015 by1000genomes TCGA-95-8494-01A-11D-2323-08 TCGA-95-8494-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx db6db3f7-ac97-46eb-a799-efc77209a1e3 a4d83fa4-8a2d-4f51-a039-3e0b2f3e42e3 g.chr17:43587569G>C ENST00000253803.2 + 0 267 LRRC37A4P_ENST00000579913.1_RNA aactccgtctgaaaagaaaag 0.443000 4 18 0 0 1 0 0 SNHG14 104472715 broad.mit.edu 37 15 25310190 25310190 + RNA SNP T T C TCGA-95-8494-01A-11D-2323-08 TCGA-95-8494-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx db6db3f7-ac97-46eb-a799-efc77209a1e3 a4d83fa4-8a2d-4f51-a039-3e0b2f3e42e3 g.chr15:25310190T>C ENST00000549804.2 + 0 538 SNORD116-6_ENST00000384711.1_RNA|SNHG14_ENST00000551077.1_RNA TGATGAGTCCTCCAAAAAAAA 0.483000 4 130 0 0 1 0 0 MRPS16 51021 broad.mit.edu 37 10 75011591 75011591 + Silent SNP G G C TCGA-95-8494-01A-11D-2323-08 TCGA-95-8494-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx db6db3f7-ac97-46eb-a799-efc77209a1e3 a4d83fa4-8a2d-4f51-a039-3e0b2f3e42e3 g.chr10:75011591G>C ENST00000372945.3 - 2 414 c.204C>G c.(202-204)ctC>ctG p.L68L MRPS16_ENST00000372940.3_Silent_p.L68L|MRPS16_ENST00000416782.2_Silent_p.L68L|MRPS16_ENST00000479005.1_5'UTR|DNAJC9-AS1_ENST00000440197.2_RNA NM_016065.3 NP_057149.1 Q9Y3D3 RT16_HUMAN mitochondrial ribosomal protein S16 68 translation mitochondrial small ribosomal subunit protein binding|structural constituent of ribosome large_intestine(2)|lung(2) 4 Prostate(51;0.0119) TGTCTAGGTTGAGGGCAACGA 0.527000 23 161 0 0 1 0 0 TUBBP5 643224 broad.mit.edu 37 9 141070213 141070213 + RNA SNP A A G TCGA-95-8494-01A-11D-2323-08 TCGA-95-8494-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx db6db3f7-ac97-46eb-a799-efc77209a1e3 a4d83fa4-8a2d-4f51-a039-3e0b2f3e42e3 g.chr9:141070213A>G ENST00000503395.1 + 0 1293 AGGGCAGCTCAAAATCCAGGA 0.632000 3 32 0 0 1 0 0 TNIP2 79155 broad.mit.edu 37 4 2757762 2757762 + Silent SNP G G A TCGA-95-8494-01A-11D-2323-08 TCGA-95-8494-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx db6db3f7-ac97-46eb-a799-efc77209a1e3 a4d83fa4-8a2d-4f51-a039-3e0b2f3e42e3 g.chr4:2757762G>A ENST00000315423.7 - 1 341 c.255C>T c.(253-255)gcC>gcT p.A85A TNIP2_ENST00000510267.1_5'UTR|TNIP2_ENST00000503235.1_Silent_p.A85A NM_024309.3 NP_077285.3 Q8NFZ5 TNIP2_HUMAN TNFAIP3 interacting protein 2 85 cytosol protein binding breast(2)|central_nervous_system(1)|large_intestine(4)|lung(6)|prostate(1) 14 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) GGGCCTCGGCGGCGCCGCCCT 0.751000 5 17 0 0 1 0 0 OR6M1 390261 broad.mit.edu 37 11 123676164 123676164 + Silent SNP C C T TCGA-95-8494-01A-11D-2323-08 TCGA-95-8494-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx db6db3f7-ac97-46eb-a799-efc77209a1e3 a4d83fa4-8a2d-4f51-a039-3e0b2f3e42e3 g.chr11:123676164C>T ENST00000309154.2 - 1 931 c.894G>A c.(892-894)ttG>ttA p.L298L NM_001005325.1 NP_001005325.1 Q8NGM8 OR6M1_HUMAN olfactory receptor, family 6, subfamily M, member 1 298 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(2)|skin(5)|urinary_tract(1) 29 Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.028) CTGTCTCTCTCAACACTTCCT 0.388000 23 114 0 0 1 0 0 TM9SF1 10548 broad.mit.edu 37 14 24679955 24679955 + Missense_Mutation SNP C C T TCGA-95-8494-01A-11D-2323-08 TCGA-95-8494-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx db6db3f7-ac97-46eb-a799-efc77209a1e3 a4d83fa4-8a2d-4f51-a039-3e0b2f3e42e3 g.chr14:24679955C>T ENST00000556387.1 - 4 412 c.379G>A c.(379-381)Gaa>Aaa p.E127K CHMP4A_ENST00000347519.6_Missense_Mutation_p.E170K|AL136419.6_ENST00000565988.1_RNA|CHMP4A_ENST00000542700.2_5'UTR|TM9SF1_ENST00000530611.1_Missense_Mutation_p.E127K O15321 TM9S1_HUMAN transmembrane 9 superfamily member 1 0 autophagy autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane|lysosomal membrane NS(1)|breast(4)|endometrium(3)|large_intestine(11)|lung(4)|ovary(1) 24 GBM - Glioblastoma multiforme(265;0.0183) GTCATCAGTTCATCTACCTTG 0.473000 19 48 0 0 1 0 0 ATP10B 23120 broad.mit.edu 37 5 160025779 160025779 + Missense_Mutation SNP C C G TCGA-95-8494-01A-11D-2323-08 TCGA-95-8494-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx db6db3f7-ac97-46eb-a799-efc77209a1e3 a4d83fa4-8a2d-4f51-a039-3e0b2f3e42e3 g.chr5:160025779C>G ENST00000327245.5 - 22 4408 c.3562G>C c.(3562-3564)Gag>Cag p.E1188Q NM_025153.2 NP_079429.2 O94823 AT10B_HUMAN ATPase, class V, type 10B 1188 ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1) 75 Renal(175;0.00196) Medulloblastoma(196;0.0377)|all_neural(177;0.121) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) CTCCTTACCTCAGAGTTCTGG 0.522000 65 434 0 0 1 0 0 ZNF764 92595 broad.mit.edu 37 16 30567092 30567092 + Missense_Mutation SNP G G A TCGA-95-8494-01A-11D-2323-08 TCGA-95-8494-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx db6db3f7-ac97-46eb-a799-efc77209a1e3 a4d83fa4-8a2d-4f51-a039-3e0b2f3e42e3 g.chr16:30567092G>A ENST00000395091.2 - 3 962 c.647C>T c.(646-648)tCc>tTc p.S216F AC002310.13_ENST00000568114.1_Intron|ZNF764_ENST00000252797.2_Missense_Mutation_p.S217F Q96H86 ZN764_HUMAN zinc finger protein 764 217 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1) 7 TTTGCTCAGGGAGGAAGCGTG 0.662000 6 27 0 0 1 0 0 TRERF1 55809 broad.mit.edu 37 6 42200423 42200423 + Missense_Mutation SNP C C A TCGA-95-8494-01A-11D-2323-08 TCGA-95-8494-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx db6db3f7-ac97-46eb-a799-efc77209a1e3 a4d83fa4-8a2d-4f51-a039-3e0b2f3e42e3 g.chr6:42200423C>A ENST00000541110.1 - 17 3902 c.3334G>T c.(3334-3336)Ggc>Tgc p.G1112C TRERF1_ENST00000372917.4_Missense_Mutation_p.G1021C|TRERF1_ENST00000354325.2_Missense_Mutation_p.G1009C|TRERF1_ENST00000372922.4_Missense_Mutation_p.G1092C|TRERF1_ENST00000340840.2_Missense_Mutation_p.G1021C Q96PN7 TREF1_HUMAN transcriptional regulating factor 1 1092 Interacts with CREBBP. cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process nucleus DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2) 45 Colorectal(47;0.196) Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152) ACCTACTTGCCACACTCCTTG 0.577000 3 18 0.150653 0.152676 1 1 0 SLCO6A1 133482 broad.mit.edu 37 5 101735275 101735275 + Missense_Mutation SNP C C T TCGA-95-8494-01A-11D-2323-08 TCGA-95-8494-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx db6db3f7-ac97-46eb-a799-efc77209a1e3 a4d83fa4-8a2d-4f51-a039-3e0b2f3e42e3 g.chr5:101735275C>T ENST00000506729.1 - 10 1969 c.1798G>A c.(1798-1800)Gtc>Atc p.V600I SLCO6A1_ENST00000389019.3_Missense_Mutation_p.V538I|SLCO6A1_ENST00000379807.3_Missense_Mutation_p.V600I|SLCO6A1_ENST00000379810.1_Missense_Mutation_p.V347I|SLCO6A1_ENST00000513675.1_Missense_Mutation_p.V347I Q86UG4 SO6A1_HUMAN solute carrier organic anion transporter family, member 6A1 600 integral to membrane|plasma membrane transporter activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323) Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113) ATGGCCAAGACGATTGGTACA 0.303000 14 80 0 0 1 0 0 CLIP1 6249 broad.mit.edu 37 12 122826036 122826036 + Missense_Mutation SNP G G C TCGA-95-8494-01A-11D-2323-08 TCGA-95-8494-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx db6db3f7-ac97-46eb-a799-efc77209a1e3 a4d83fa4-8a2d-4f51-a039-3e0b2f3e42e3 g.chr12:122826036G>C ENST00000358808.2 - 10 1836 c.1682C>G c.(1681-1683)tCt>tGt p.S561C CLIP1_ENST00000545889.1_Missense_Mutation_p.S262C|CLIP1_ENST00000540338.1_Missense_Mutation_p.S572C|CLIP1_ENST00000537178.1_Missense_Mutation_p.S526C|CLIP1_ENST00000361654.4_Missense_Mutation_p.S526C|CLIP1_ENST00000302528.7_Missense_Mutation_p.S561C NM_001247997.1|NM_002956.2 NP_001234926.1|NP_002947.1 P30622 CLIP1_HUMAN CAP-GLY domain containing linker protein 1 572 mitotic prometaphase|positive regulation of microtubule polymerization centrosome|cytosol|endosome|intermediate filament|kinetochore nucleic acid binding|protein homodimerization activity|zinc ion binding NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226) CTCCTTCAGAGAAGTTATTTC 0.458000 65 339 0 0 1 0 0 TNS3 64759 broad.mit.edu 37 7 47323419 47323432 + Frame_Shift_Del DEL TGAGGGACTCCATC TGAGGGACTCCATC - TCGA-95-8494-01A-11D-2323-08 TCGA-95-8494-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx db6db3f7-ac97-46eb-a799-efc77209a1e3 a4d83fa4-8a2d-4f51-a039-3e0b2f3e42e3 g.chr7:47323419_47323432delTGAGGGACTCCATC ENST00000398879.1 - 28 4326_4339 c.3960_3973delGATGGAGTCCCTCA c.(3958-3975)gaccfs p.EMESLT1320fs TNS3_ENST00000355730.3_Frame_Shift_Del_p.EMESLT1080fs|TNS3_ENST00000311160.9_Frame_Shift_Del_p.EMESLT1320fs Q68CZ2 TENS3_HUMAN tensin 3 1320 focal adhesion protein binding NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 64 TGGTGGCCGGTGAGGGACTCCATCTCCACAGAGT 0.556 36 65 --- --- --- --- PRSS3P2 154754 broad.mit.edu 37 7 142481923 142481925 + RNA DEL CAA CAA - TCGA-95-8494-01A-11D-2323-08 TCGA-95-8494-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx db6db3f7-ac97-46eb-a799-efc77209a1e3 a4d83fa4-8a2d-4f51-a039-3e0b2f3e42e3 g.chr7:142481923_142481925delCAA ENST00000603901.1 + 0 591 NR_001296.3 GTGATTAGACCAACCCTTCCCAT 0.537 9 43 --- --- --- --- LCN15 389812 broad.mit.edu 37 9 139657833 139657833 + Frame_Shift_Del DEL G G - TCGA-95-8494-01A-11D-2323-08 TCGA-95-8494-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx db6db3f7-ac97-46eb-a799-efc77209a1e3 a4d83fa4-8a2d-4f51-a039-3e0b2f3e42e3 g.chr9:139657833delG ENST00000316144.5 - 4 418 c.394delC c.(394-396)tcfs p.L132fs LCN15_ENST00000482511.1_5'UTR NM_203347.1 NP_976222.1 Q6UWW0 LCN15_HUMAN lipocalin 15 132 lipid metabolic process extracellular region binding|transporter activity endometrium(1)|lung(1) 2 ATGGTGCTGAGGGCCCCCTCC 0.652 16 69 --- --- --- --- MALAT1 378938 broad.mit.edu 37 11 65268315 65268317 + RNA DEL GGG GGG - TCGA-95-8494-01A-11D-2323-08 TCGA-95-8494-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx db6db3f7-ac97-46eb-a799-efc77209a1e3 a4d83fa4-8a2d-4f51-a039-3e0b2f3e42e3 g.chr11:65268315_65268317delGGG ENST00000534336.1 + 0 3083_3085 NR_002819.2 CTAATATAATGGGGGAGTTTCGT 0.399 19 26 --- --- --- --- XIST 7503 broad.mit.edu 37 X 73069752 73069752 + RNA DEL G G - TCGA-95-8494-01A-11D-2323-08 TCGA-95-8494-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx db6db3f7-ac97-46eb-a799-efc77209a1e3 a4d83fa4-8a2d-4f51-a039-3e0b2f3e42e3 g.chrX:73069752delG ENST00000429829.1 - 0 2836 NR_001564.2 ggctAGACTAGGGGTTTGCTG 0.582 9 4 --- --- --- ---