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 FAM171B 165215 broad.mit.edu 37 2 187559053 187559053 + Silent SNP A A G rs2370706 TCGA-BJ-A2NA-01A-12D-A19J-08 TCGA-BJ-A2NA-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fb47f70-88d5-4b3e-821e-cee5eb717471 055f269a-df3a-4063-a414-59e6a33cbba2 g.chr2:187559053A>G ENST00000304698.5 + 1 356 c.153A>G c.(151-153)caA>caG p.Q51Q AC017101.10_ENST00000453665.1_RNA NM_177454.3 NP_803237.3 Q6P995 F171B_HUMAN family with sequence similarity 171, member B 51 Gln-rich. integral to membrane DNA binding NS(1)|breast(6)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(22)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 54 agcagcaacaacaacaacaac 0.632000 3 21 0 0 0.004672 0 0 SUPT20H 55578 broad.mit.edu 37 13 37622068 37622068 + Silent SNP G G A TCGA-BJ-A2NA-01A-12D-A19J-08 TCGA-BJ-A2NA-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fb47f70-88d5-4b3e-821e-cee5eb717471 055f269a-df3a-4063-a414-59e6a33cbba2 g.chr13:37622068G>A ENST00000360252.4 - 4 292 c.45C>T c.(43-45)gtC>gtT p.V15V SUPT20H_ENST00000356185.3_Silent_p.V15V|SUPT20H_ENST00000464744.1_Silent_p.V15V|SUPT20H_ENST00000470359.2_5'UTR|SUPT20H_ENST00000350612.6_Silent_p.V15V|SUPT20H_ENST00000475892.1_Silent_p.V15V|SUPT20H_ENST00000542180.1_Silent_p.V3V NM_001278481.1|NM_001278482.1|NM_017569.3 NP_001265410.1|NP_001265411.1|NP_060039.1 suppressor of Ty 20 homolog (S. cerevisiae) CACTTTCAATGACATACTAAA 0.318000 6 52 0 0 0.001168 0 0 SLC34A2 10568 broad.mit.edu 37 4 25678361 25678361 + Missense_Mutation SNP C C T TCGA-BJ-A2NA-01A-12D-A19J-08 TCGA-BJ-A2NA-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fb47f70-88d5-4b3e-821e-cee5eb717471 055f269a-df3a-4063-a414-59e6a33cbba2 g.chr4:25678361C>T ENST00000382051.3 + 13 2113 c.2063C>T c.(2062-2064)aCg>aTg p.T688M SLC34A2_ENST00000504570.1_Missense_Mutation_p.T687M|SLC34A2_ENST00000503434.1_Missense_Mutation_p.T687M NM_001177998.1|NM_006424.2 NP_001171469.1|NP_006415.2 O95436 NPT2B_HUMAN solute carrier family 34 (type II sodium/phosphate contransporter), member 2 688 cellular phosphate ion homeostasis apical plasma membrane|brush border membrane|integral to plasma membrane phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity SLC34A2/ROS1(14) breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4) 41 Breast(46;0.0503) ACCGAATGCACGGCCTTGTAG 0.567000 T ROS1 NSCLC 20 33 0 0 0.008871 0 0 SWSAP1 126074 broad.mit.edu 37 19 11486194 11486194 + Silent SNP C C A TCGA-BJ-A2NA-01A-12D-A19J-08 TCGA-BJ-A2NA-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fb47f70-88d5-4b3e-821e-cee5eb717471 055f269a-df3a-4063-a414-59e6a33cbba2 g.chr19:11486194C>A ENST00000312423.2 + 2 251 c.192C>A c.(190-192)atC>atA p.I64I NM_175871.3 NP_787067.2 Q6NVH7 CS039_HUMAN SWIM-type zinc finger 7 associated protein 1 64 TCTAGAAGATCCGCTTCCAGT 0.587000 80 134 4.64247e-43 5.0359e-43 0.014410 1 0 NKX2-1 7080 broad.mit.edu 37 14 36988488 36988488 + Missense_Mutation SNP C C G TCGA-BJ-A2NA-01A-12D-A19J-08 TCGA-BJ-A2NA-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fb47f70-88d5-4b3e-821e-cee5eb717471 055f269a-df3a-4063-a414-59e6a33cbba2 g.chr14:36988488C>G ENST00000518149.1 - 2 680 c.75G>C c.(73-75)aaG>aaC p.K25N RP11-896J10.3_ENST00000521945.1_RNA|NKX2-1_ENST00000354822.5_Missense_Mutation_p.K55N|NKX2-1_ENST00000522719.2_Missense_Mutation_p.K25N|NKX2-1-AS1_ENST00000521292.2_RNA|NKX2-1_ENST00000498187.2_Missense_Mutation_p.K25N P43699 NKX21_HUMAN NK2 homeobox 1 25 epithelial tube branching involved in lung morphogenesis|globus pallidus development|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|thyroid gland development protein binding|transcription regulatory region DNA binding large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(2) 7 all_cancers(3;4.47e-51)|Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)|Breast(36;0.165) Lung(8;1.8e-08)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.014)|all cancers(34;0.0366)|LUSC - Lung squamous cell carcinoma(13;0.132) GBM - Glioblastoma multiforme(112;0.0171) TGCCCACTTTCTTGTAGCTTT 0.652000 A NSCLC 3 20 0 0 0.009096 0 0 OR2C1 4993 broad.mit.edu 37 16 3405956 3405956 + Missense_Mutation SNP G G C TCGA-BJ-A2NA-01A-12D-A19J-08 TCGA-BJ-A2NA-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fb47f70-88d5-4b3e-821e-cee5eb717471 055f269a-df3a-4063-a414-59e6a33cbba2 g.chr16:3405956G>C ENST00000304936.2 + 1 68 c.16G>C c.(16-18)Gat>Cat p.D6H NM_012368.2 NP_036500.2 O95371 OR2C1_HUMAN olfactory receptor, family 2, subfamily C, member 1 6 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(1)|large_intestine(2)|liver(1)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 12 CGGGGTGAATGATAGCTCCTT 0.463000 9 42 0 0 0.006214 0 0 SLC13A5 284111 broad.mit.edu 37 17 6607201 6607201 + Silent SNP C C A TCGA-BJ-A2NA-01A-12D-A19J-08 TCGA-BJ-A2NA-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fb47f70-88d5-4b3e-821e-cee5eb717471 055f269a-df3a-4063-a414-59e6a33cbba2 g.chr17:6607201C>A ENST00000433363.2 - 4 776 c.543G>T c.(541-543)ctG>ctT p.L181L SLC13A5_ENST00000381074.4_Silent_p.L138L|SLC13A5_ENST00000573648.1_Silent_p.L181L|SLC13A5_ENST00000293800.6_Silent_p.L164L NM_177550.3 NP_808218.1 Q86YT5 S13A5_HUMAN solute carrier family 13 (sodium-dependent citrate transporter), member 5 181 integral to membrane citrate transmembrane transporter activity p.L181L(3) breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|prostate(5)|skin(3)|urinary_tract(1) 26 GCTCACCTGGCAGCTCCTTGG 0.642000 5 22 5.9392e-07 6.23129e-07 0.001168 1 0 SPC25 57405 broad.mit.edu 37 2 169732647 169732647 + Missense_Mutation SNP T T C TCGA-BJ-A2NA-01A-12D-A19J-08 TCGA-BJ-A2NA-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fb47f70-88d5-4b3e-821e-cee5eb717471 055f269a-df3a-4063-a414-59e6a33cbba2 g.chr2:169732647T>C ENST00000282074.2 - 5 527 c.386A>G c.(385-387)aAa>aGa p.K129R NM_020675.3 NP_065726.1 Q9HBM1 SPC25_HUMAN SPC25, NDC80 kinetochore complex component 129 Interaction with the N-terminus of SPBC24. cell division|chromosome segregation|mitotic prometaphase|mitotic spindle organization condensed chromosome kinetochore|cytosol|Ndc80 complex|nucleus protein binding central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(1) 9 CTGCAGCCTTTTCAACCTCTC 0.289000 2 17 0 0 0.004672 0 0 PHF23 79142 broad.mit.edu 37 17 7139847 7139847 + Silent SNP G G C TCGA-BJ-A2NA-01A-12D-A19J-08 TCGA-BJ-A2NA-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fb47f70-88d5-4b3e-821e-cee5eb717471 055f269a-df3a-4063-a414-59e6a33cbba2 g.chr17:7139847G>C ENST00000320316.3 - 4 625 c.399C>G c.(397-399)ctC>ctG p.L133L PHF23_ENST00000576955.1_Silent_p.L3L|PHF23_ENST00000454255.2_Silent_p.L129L|PHF23_ENST00000571362.1_Silent_p.L66L NM_024297.2 NP_077273.2 Q9BUL5 PHF23_HUMAN PHD finger protein 23 133 zinc ion binding breast(4)|kidney(2)|large_intestine(6)|lung(3) 15 GAGAGTCCTTGAGCTTCATCT 0.602000 11 65 0 0 0.010729 0 0 OXER1 165140 broad.mit.edu 37 2 42991172 42991172 + Missense_Mutation SNP G G A TCGA-BJ-A2NA-01A-12D-A19J-08 TCGA-BJ-A2NA-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fb47f70-88d5-4b3e-821e-cee5eb717471 055f269a-df3a-4063-a414-59e6a33cbba2 g.chr2:42991172G>A ENST00000378661.2 - 1 229 c.148C>T c.(148-150)Ccc>Tcc p.P50S NM_148962.4 NP_683765.1 Q8TDS5 OXER1_HUMAN oxoeicosanoid (OXE) receptor 1 50 Ser-rich. regulation of cAMP biosynthetic process integral to membrane|plasma membrane 5(S)-hydroxyperoxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding|5-hydroxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding|5-oxo-6E,8Z,11Z,14Z-icosatetraenoic acid binding|G-protein coupled receptor activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1) 10 gagagagagggagatggagag 0.602000 6 39 0 0 0.001984 0 0 IGSF22 283284 broad.mit.edu 37 11 18741432 18741432 + Missense_Mutation SNP G G A TCGA-BJ-A2NA-01A-12D-A19J-08 TCGA-BJ-A2NA-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fb47f70-88d5-4b3e-821e-cee5eb717471 055f269a-df3a-4063-a414-59e6a33cbba2 g.chr11:18741432G>A ENST00000513874.1 - 7 666 c.527C>T c.(526-528)cCt>cTt p.P176L RP11-1081L13.4_ENST00000527285.1_RNA NM_173588.3 NP_775859.3 Q8N9C0 IGS22_HUMAN immunoglobulin superfamily, member 22 176 Lys-rich. NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3) 56 CTTGGGAGCAGGGGGTGCCCT 0.502000 7 117 0 0 0.001984 0 0 ABHD2 11057 broad.mit.edu 37 15 89659640 89659640 + Missense_Mutation SNP G G A TCGA-BJ-A2NA-01A-12D-A19J-08 TCGA-BJ-A2NA-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fb47f70-88d5-4b3e-821e-cee5eb717471 055f269a-df3a-4063-a414-59e6a33cbba2 g.chr15:89659640G>A ENST00000352732.5 + 3 602 c.82G>A c.(82-84)Gtg>Atg p.V28M ABHD2_ENST00000355100.3_Missense_Mutation_p.V28M|ABHD2_ENST00000565973.1_Missense_Mutation_p.V28M NM_152924.4 NP_690888.1 P08910 ABHD2_HUMAN abhydrolase domain containing 2 28 integral to membrane carboxylesterase activity NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|soft_tissue(1) 23 Lung NSC(78;0.0472)|all_lung(78;0.089) TGTGCTGTACGTGATCGTCCG 0.577000 34 59 0 0 0.015359 0 0 PHF23 79142 broad.mit.edu 37 17 7139630 7139630 + Missense_Mutation SNP G G C TCGA-BJ-A2NA-01A-12D-A19J-08 TCGA-BJ-A2NA-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fb47f70-88d5-4b3e-821e-cee5eb717471 055f269a-df3a-4063-a414-59e6a33cbba2 g.chr17:7139630G>C ENST00000320316.3 - 4 842 c.616C>G c.(616-618)Cct>Gct p.P206A PHF23_ENST00000576955.1_Missense_Mutation_p.P76A|PHF23_ENST00000454255.2_Missense_Mutation_p.P202A|PHF23_ENST00000571362.1_Missense_Mutation_p.P139A NM_024297.2 NP_077273.2 Q9BUL5 PHF23_HUMAN PHD finger protein 23 206 zinc ion binding breast(4)|kidney(2)|large_intestine(6)|lung(3) 15 CCATCCCCAGGAGTTGGCCGA 0.582000 17 76 0 0 0.004007 0 0 ST8SIA1 6489 broad.mit.edu 37 12 22487068 22487068 + Silent SNP A A G TCGA-BJ-A2NA-01A-12D-A19J-08 TCGA-BJ-A2NA-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fb47f70-88d5-4b3e-821e-cee5eb717471 055f269a-df3a-4063-a414-59e6a33cbba2 g.chr12:22487068A>G ENST00000396037.4 - 1 580 c.99T>C c.(97-99)agT>agC p.S33S ST8SIA1_ENST00000536558.1_Intron|ST8SIA1_ENST00000539510.1_5'UTR|ST8SIA1_ENST00000404299.3_Silent_p.S33S|ST8SIA1_ENST00000381424.3_Silent_p.S33S NM_003034.3 NP_003025.1 Q92185 SIA8A_HUMAN ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 1 33 glycosphingolipid biosynthetic process|protein glycosylation integral to Golgi membrane alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1) 25 CACAGAGGGCACTGGCTCCCA 0.667000 29 72 0 0 0.008361 0 0 MYF5 4617 broad.mit.edu 37 12 81112653 81112653 + Silent SNP T T C TCGA-BJ-A2NA-01A-12D-A19J-08 TCGA-BJ-A2NA-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fb47f70-88d5-4b3e-821e-cee5eb717471 055f269a-df3a-4063-a414-59e6a33cbba2 g.chr12:81112653T>C ENST00000228644.3 + 3 743 c.591T>C c.(589-591)gaT>gaC p.D197D NM_005593.2 NP_005584.2 P13349 MYF5_HUMAN myogenic factor 5 197 muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development nucleoplasm DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1) 30 ATGCCACAGATAAAAACTCCT 0.423000 34 60 0 0 0.021022 0 0 TDGF1P3 0 broad.mit.edu 37 X 109764445 109764445 + RNA SNP G G A TCGA-BJ-A2NA-01A-12D-A19J-08 TCGA-BJ-A2NA-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fb47f70-88d5-4b3e-821e-cee5eb717471 055f269a-df3a-4063-a414-59e6a33cbba2 g.chrX:109764445G>A ENST00000602699.1 + 0 906 NR_002718.2 ATTAGTTGCCGGGCTGGGCCA 0.522000 11 31 0 0 0.013537 0 0 MDN1 23195 broad.mit.edu 37 6 90400467 90400467 + Silent SNP C C T TCGA-BJ-A2NA-01A-12D-A19J-08 TCGA-BJ-A2NA-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fb47f70-88d5-4b3e-821e-cee5eb717471 055f269a-df3a-4063-a414-59e6a33cbba2 g.chr6:90400467C>T ENST00000369393.3 - 64 10789 c.10674G>A c.(10672-10674)agG>agA p.R3558R MDN1_ENST00000428876.1_Silent_p.R3558R Q9NU22 MDN1_HUMAN MDN1, midasin homolog (yeast) 3558 protein complex assembly|regulation of protein complex assembly nucleus ATP binding|ATPase activity|unfolded protein binding NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 218 all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246) BRCA - Breast invasive adenocarcinoma(108;0.0193) TCCTAGAGTTCCTGCTCCTGT 0.517000 6 42 0 0 0.001984 0 0 TBC1D3 729873 broad.mit.edu 37 17 36352489 36352489 + Translation_Start_Site SNP A A C rs4796259 by1000genomes TCGA-BJ-A2NA-01A-12D-A19J-08 TCGA-BJ-A2NA-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fb47f70-88d5-4b3e-821e-cee5eb717471 055f269a-df3a-4063-a414-59e6a33cbba2 g.chr17:36352489A>C ENST00000537432.1 - 0 359 RP11-1407O15.2_ENST00000544906.1_Missense_Mutation_p.F278C|RP11-1407O15.2_ENST00000312412.4_Missense_Mutation_p.F433C Q8IZP1 TBC3A_HUMAN TBC1 domain family, member 3 intracellular Rab GTPase activator activity breast(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1) 5 Breast(7;2.97e-12) Breast(25;0.102)|Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) TATAGCATCAAATATCTCATC 0.388000 6 38 0 0 0.003080 0 0 OXER1 165140 broad.mit.edu 37 2 42991137 42991137 + Silent SNP G G A TCGA-BJ-A2NA-01A-12D-A19J-08 TCGA-BJ-A2NA-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fb47f70-88d5-4b3e-821e-cee5eb717471 055f269a-df3a-4063-a414-59e6a33cbba2 g.chr2:42991137G>A ENST00000378661.2 - 1 264 c.183C>T c.(181-183)ttC>ttT p.F61F NM_148962.4 NP_683765.1 Q8TDS5 OXER1_HUMAN oxoeicosanoid (OXE) receptor 1 61 Ser-rich. regulation of cAMP biosynthetic process integral to membrane|plasma membrane 5(S)-hydroxyperoxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding|5-hydroxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding|5-oxo-6E,8Z,11Z,14Z-icosatetraenoic acid binding|G-protein coupled receptor activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1) 10 gtgagggagagaaggagggag 0.612000 8 20 0 0 0.003080 0 0 ALOX12B 242 broad.mit.edu 37 17 7977036 7977036 + Missense_Mutation SNP C C T TCGA-BJ-A2NA-01A-12D-A19J-08 TCGA-BJ-A2NA-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fb47f70-88d5-4b3e-821e-cee5eb717471 055f269a-df3a-4063-a414-59e6a33cbba2 g.chr17:7977036C>T ENST00000319144.4 - 13 1954 c.1694G>A c.(1693-1695)cGa>cAa p.R565Q ALOX12B_ENST00000577351.1_Intron NM_001139.2 NP_001130.1 O75342 LX12B_HUMAN arachidonate 12-lipoxygenase, 12R type 565 Lipoxygenase. epidermis development|leukotriene biosynthetic process arachidonate 12-lipoxygenase activity|iron ion binding|lipoxygenase activity endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|stomach(1) 16 AGTGACATATCGGATCAGCTC 0.622000 Multiple Myeloma(8;0.094) OREG0024152 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 20 0 0 0.004672 0 0 NFE2L3 9603 broad.mit.edu 37 7 26224243 26224243 + Missense_Mutation SNP A A G rs144296822 byFrequency TCGA-BJ-A2NA-01A-12D-A19J-08 TCGA-BJ-A2NA-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fb47f70-88d5-4b3e-821e-cee5eb717471 055f269a-df3a-4063-a414-59e6a33cbba2 g.chr7:26224243A>G ENST00000056233.3 + 4 1184 c.925A>G c.(925-927)Ata>Gta p.I309V NM_004289.6 NP_004280.5 Q9Y4A8 NF2L3_HUMAN nuclear factor, erythroid 2-like 3 309 transcription from RNA polymerase II promoter nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(5)|urinary_tract(7) 29 CAGCCAGGCTATAAGTCAGGA 0.423000 43 70 0 0 0.008740 0 0 MLLT3 4300 broad.mit.edu 37 9 20414343 20414343 + Silent SNP A A G TCGA-BJ-A2NA-01A-12D-A19J-08 TCGA-BJ-A2NA-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fb47f70-88d5-4b3e-821e-cee5eb717471 055f269a-df3a-4063-a414-59e6a33cbba2 g.chr9:20414343A>G ENST00000380338.4 - 5 787 c.501T>C c.(499-501)agT>agC p.S167S MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S164S NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 167 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.S167S(19) central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7) 66 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) tgctgctgctactgctgctgc 0.532000 T MLL ALL 4 51 0 0 0.014758 0 0 AL031666.2 0 broad.mit.edu 37 20 45947814 45947814 + Silent SNP A A G TCGA-BJ-A2NA-01A-12D-A19J-08 TCGA-BJ-A2NA-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fb47f70-88d5-4b3e-821e-cee5eb717471 055f269a-df3a-4063-a414-59e6a33cbba2 g.chr20:45947814A>G ENST00000599904.1 + 1 569 c.450A>G c.(448-450)ggA>ggG p.G150G ZMYND8_ENST00000355972.4_Intron|ZMYND8_ENST00000458360.2_Intron|ZMYND8_ENST00000540497.1_Intron|ZMYND8_ENST00000352431.2_Intron|ZMYND8_ENST00000471951.2_Intron|ZMYND8_ENST00000360911.3_Intron|ZMYND8_ENST00000311275.7_Intron|ZMYND8_ENST00000372023.3_Intron|ZMYND8_ENST00000536340.1_Intron|ZMYND8_ENST00000262975.4_Intron|ZMYND8_ENST00000461685.1_Intron|ZMYND8_ENST00000446994.2_Intron|ZMYND8_ENST00000396281.4_Intron TCCCAGGGGGAGGAGGAAGAA 0.592000 2 7 0 0 0.004672 0 0 TAF7L 54457 broad.mit.edu 37 X 100547854 100547854 + Translation_Start_Site SNP G G A TCGA-BJ-A2NA-01A-12D-A19J-08 TCGA-BJ-A2NA-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fb47f70-88d5-4b3e-821e-cee5eb717471 055f269a-df3a-4063-a414-59e6a33cbba2 g.chrX:100547854G>A ENST00000372905.2 - 0 205 TAF7L_ENST00000372907.3_Silent_p.D60D Q5H9L4 TAF7L_HUMAN TAF7-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 50kDa cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription initiation from RNA polymerase II promoter cytoplasm|transcription factor TFIID complex binding NS(1)|breast(4)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 29 GAGTGTCCTCGTCGGCAGGAA 0.562000 65 27 0 0 0.014410 0 0 FA2H 79152 broad.mit.edu 37 16 74750252 74750252 + Missense_Mutation SNP C C G TCGA-BJ-A2NA-01A-12D-A19J-08 TCGA-BJ-A2NA-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fb47f70-88d5-4b3e-821e-cee5eb717471 055f269a-df3a-4063-a414-59e6a33cbba2 g.chr16:74750252C>G ENST00000219368.3 - 6 1101 c.1032G>C c.(1030-1032)caG>caC p.Q344H FA2H_ENST00000544337.1_Missense_Mutation_p.Q131H NM_024306.4 NP_077282.3 Q7L5A8 FA2H_HUMAN fatty acid 2-hydroxylase 344 cell death|electron transport chain|fatty acid biosynthetic process|sphingolipid metabolic process|transport endoplasmic reticulum membrane|integral to membrane|microsome heme binding|oxidoreductase activity endometrium(2)|large_intestine(4)|lung(3)|skin(1) 10 CACCTGACTTCTGATGTGCAA 0.542000 7 42 0 0 0.003080 0 0 KIAA0319L 79932 broad.mit.edu 37 1 35915475 35915475 + Silent SNP C C T TCGA-BJ-A2NA-01A-12D-A19J-08 TCGA-BJ-A2NA-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fb47f70-88d5-4b3e-821e-cee5eb717471 055f269a-df3a-4063-a414-59e6a33cbba2 g.chr1:35915475C>T ENST00000325722.3 - 15 2580 c.2346G>A c.(2344-2346)gtG>gtA p.V782V KIAA0319L_ENST00000485551.1_5'UTR|KIAA0319L_ENST00000373266.4_Silent_p.V219V NM_024874.4 NP_079150.3 Q8IZA0 K319L_HUMAN KIAA0319-like 782 PKD 5. cytoplasmic vesicle part|integral to membrane protein binding breast(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(12)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1) 34 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) CACCAGGTTTCACCTCCACAG 0.493000 11 44 0 0 0.010729 0 0 KHNYN 23351 broad.mit.edu 37 14 24900883 24900883 + Missense_Mutation SNP C C T TCGA-BJ-A2NA-01A-12D-A19J-08 TCGA-BJ-A2NA-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fb47f70-88d5-4b3e-821e-cee5eb717471 055f269a-df3a-4063-a414-59e6a33cbba2 g.chr14:24900883C>T ENST00000251343.5 + 3 555 c.416C>T c.(415-417)gCa>gTa p.A139V KHNYN_ENST00000553935.1_Missense_Mutation_p.A139V|KHNYN_ENST00000556842.1_Missense_Mutation_p.A139V O15037 KHNYN_HUMAN KH and NYN domain containing 139 kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(3) 24 GAAGAGCTGGCAGAGCGGCTG 0.622000 OREG0022627 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 8 55 0 0 0.003080 0 0 UNC13A 23025 broad.mit.edu 37 19 17756912 17756912 + Missense_Mutation SNP C C T TCGA-BJ-A2NA-01A-12D-A19J-08 TCGA-BJ-A2NA-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fb47f70-88d5-4b3e-821e-cee5eb717471 055f269a-df3a-4063-a414-59e6a33cbba2 g.chr19:17756912C>T ENST00000428389.2 - 19 2316 c.2317G>A c.(2317-2319)Gcc>Acc p.A773T UNC13A_ENST00000519716.2_Missense_Mutation_p.A685T|UNC13A_ENST00000551649.1_Missense_Mutation_p.A685T|UNC13A_ENST00000550896.1_Missense_Mutation_p.A683T|UNC13A_ENST00000252773.7_Missense_Mutation_p.A685T|UNC13A_ENST00000552293.1_Missense_Mutation_p.A685T Q9UPW8 UN13A_HUMAN unc-13 homolog A (C. elegans) 685 exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding p.A685T(1) breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2) 61 AAGCCCTGGGCGCAGACCACT 0.557000 5 23 0 0 0.001168 0 0 ATG14 22863 broad.mit.edu 37 14 55848817 55848817 + Missense_Mutation SNP G G A TCGA-BJ-A2NA-01A-12D-A19J-08 TCGA-BJ-A2NA-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fb47f70-88d5-4b3e-821e-cee5eb717471 055f269a-df3a-4063-a414-59e6a33cbba2 g.chr14:55848817G>A ENST00000247178.5 - 6 775 c.740C>T c.(739-741)tCa>tTa p.S247L NM_014924.4 NP_055739.2 Q6ZNE5 BAKOR_HUMAN autophagy related 14 247 autophagic vacuole assembly|positive regulation of autophagy autophagic vacuole|endoplasmic reticulum|pre-autophagosomal structure membrane protein binding central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(2) 13 CCATCGTCCTGAGAGGTAAGT 0.532000 21 81 0 0 0.014323 0 0 SNX31 169166 broad.mit.edu 37 8 101661544 101661544 + Silent SNP G G A TCGA-BJ-A2NA-01A-12D-A19J-08 TCGA-BJ-A2NA-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fb47f70-88d5-4b3e-821e-cee5eb717471 055f269a-df3a-4063-a414-59e6a33cbba2 g.chr8:101661544G>A ENST00000311812.2 - 2 249 c.99C>T c.(97-99)ttC>ttT p.F33F NM_152628.3 NP_689841.3 Q8N9S9 SNX31_HUMAN sorting nexin 31 33 PX. cell communication|protein transport phosphatidylinositol binding NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|skin(3)|urinary_tract(1) 26 all_cancers(14;4.01e-05)|all_epithelial(15;1.26e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125) Epithelial(11;1.21e-11)|all cancers(13;2.62e-09)|OV - Ovarian serous cystadenocarcinoma(57;3.22e-06)|STAD - Stomach adenocarcinoma(118;0.206) GCACCCTGCAGAAGAGGAACC 0.612000 4 34 0 0 0.014758 0 0 TTBK2 146057 broad.mit.edu 37 15 43067809 43067809 + Missense_Mutation SNP C C T TCGA-BJ-A2NA-01A-12D-A19J-08 TCGA-BJ-A2NA-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fb47f70-88d5-4b3e-821e-cee5eb717471 055f269a-df3a-4063-a414-59e6a33cbba2 g.chr15:43067809C>T ENST00000267890.6 - 13 1630 c.1522G>A c.(1522-1524)Gat>Aat p.D508N NM_173500.3 NP_775771.3 Q6IQ55 TTBK2_HUMAN tau tubulin kinase 2 508 cell death ATP binding|protein serine/threonine kinase activity NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2) 43 all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216) GBM - Glioblastoma multiforme(94;3.23e-07) TATTCTTCATCATAGTGCCAG 0.502000 12 80 0 0 0.013537 0 0 CREB3L3 84699 broad.mit.edu 37 19 4154971 4154971 + Missense_Mutation SNP G G A TCGA-BJ-A2NA-01A-12D-A19J-08 TCGA-BJ-A2NA-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fb47f70-88d5-4b3e-821e-cee5eb717471 055f269a-df3a-4063-a414-59e6a33cbba2 g.chr19:4154971G>A ENST00000078445.2 + 2 250 c.103G>A c.(103-105)Ggc>Agc p.G35S CREB3L3_ENST00000595923.1_Missense_Mutation_p.G35S|CREB3L3_ENST00000602147.1_Missense_Mutation_p.G35S|CREB3L3_ENST00000602257.1_Missense_Mutation_p.G35S|CREB3L3_ENST00000252587.3_Missense_Mutation_p.G26S NM_001271995.1|NM_001271996.1|NM_032607.1 NP_001258924.1|NP_001258925.1|NP_115996.1 Q68CJ9 CR3L3_HUMAN cAMP responsive element binding protein 3-like 3 35 response to unfolded protein endoplasmic reticulum membrane|integral to membrane|nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|urinary_tract(3) 24 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18) CCGGCAGGACGGCATCCTGAG 0.637000 26 63 0 0 0.007291 0 0 ZSCAN5B 342933 broad.mit.edu 37 19 56701879 56701879 + Missense_Mutation SNP C C T TCGA-BJ-A2NA-01A-12D-A19J-08 TCGA-BJ-A2NA-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fb47f70-88d5-4b3e-821e-cee5eb717471 055f269a-df3a-4063-a414-59e6a33cbba2 g.chr19:56701879C>T ENST00000586855.2 - 5 1118 c.805G>A c.(805-807)Gac>Aac p.D269N ZSCAN5B_ENST00000358992.3_Missense_Mutation_p.D269N A6NJL1 ZSA5B_HUMAN zinc finger and SCAN domain containing 5B 269 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 37 GAAGGTGTGTCAGCATCCACA 0.502000 24 111 0 0 0.016522 0 0 TYMP 1890 broad.mit.edu 37 22 50967746 50967746 + Missense_Mutation SNP C C A TCGA-BJ-A2NA-01A-12D-A19J-08 TCGA-BJ-A2NA-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fb47f70-88d5-4b3e-821e-cee5eb717471 055f269a-df3a-4063-a414-59e6a33cbba2 g.chr22:50967746C>A ENST00000252029.3 - 3 398 c.236G>T c.(235-237)cGa>cTa p.R79L TYMP_ENST00000395681.1_Missense_Mutation_p.R79L|TYMP_ENST00000395678.3_Missense_Mutation_p.R79L|TYMP_ENST00000395680.1_Missense_Mutation_p.R79L NM_001113755.2|NM_001113756.2|NM_001257988.1|NM_001257989.1|NM_001953.4 NP_001107227.1|NP_001107228.1|NP_001244917.1|NP_001244918.1|NP_001944.1 P19971 TYPH_HUMAN thymidine phosphorylase 79 angiogenesis|cell differentiation|chemotaxis|DNA replication|mitochondrial genome maintenance|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage|pyrimidine nucleotide metabolic process cytosol growth factor activity|platelet-derived growth factor receptor binding|pyrimidine-nucleoside phosphorylase activity|thymidine phosphorylase activity large_intestine(1)|lung(2)|ovary(1)|prostate(1) 5 all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247) Capecitabine(DB01101)|Docetaxel(DB01248)|Floxuridine(DB00322)|Fluorouracil(DB00544)|Sulfasalazine(DB00795)|Tamoxifen(DB00675) GCCCCGAAGTCGGATGGCCAT 0.692000 13 26 1.5842e-08 1.68981e-08 0.016723 1 0 MYO9B 4650 broad.mit.edu 37 19 17313022 17313022 + Silent SNP G G A TCGA-BJ-A2NA-01A-12D-A19J-08 TCGA-BJ-A2NA-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fb47f70-88d5-4b3e-821e-cee5eb717471 055f269a-df3a-4063-a414-59e6a33cbba2 g.chr19:17313022G>A ENST00000595618.1 + 28 4898 c.4746G>A c.(4744-4746)caG>caA p.Q1582Q MYO9B_ENST00000594824.1_Silent_p.Q1582Q|MYO9B_ENST00000397274.2_Silent_p.Q1582Q NM_001130065.1|NM_004145.3 NP_001123537.1|NP_004136.2 Q13459 MYO9B_HUMAN myosin IXB 1582 Tail. actin filament-based movement cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4) 39 AGCGTGGCCAGAAGGACACCA 0.562000 5 12 0 0 0.014758 0 0 SLC39A2 29986 broad.mit.edu 37 14 21468323 21468323 + Missense_Mutation SNP C C T TCGA-BJ-A2NA-01A-12D-A19J-08 TCGA-BJ-A2NA-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fb47f70-88d5-4b3e-821e-cee5eb717471 055f269a-df3a-4063-a414-59e6a33cbba2 g.chr14:21468323C>T ENST00000298681.4 + 3 452 c.295C>T c.(295-297)Cat>Tat p.H99Y SLC39A2_ENST00000554422.1_3'UTR NM_014579.3 NP_055394.2 Q9NP94 S39A2_HUMAN solute carrier family 39 (zinc transporter), member 2 99 cytoplasmic membrane-bounded vesicle|integral to plasma membrane zinc ion transmembrane transporter activity breast(2)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(2)|upper_aerodigestive_tract(1) 14 all_cancers(95;0.00267) OV - Ovarian serous cystadenocarcinoma(11;1.34e-10)|Epithelial(56;1.57e-08)|all cancers(55;7.45e-08) GBM - Glioblastoma multiforme(265;0.0187) TGATTCAGCTCATGTAAGTAC 0.463000 7 41 0 0 0.004482 0 0 PPP1R14C 81706 broad.mit.edu 37 6 150464574 150464574 + Silent SNP G G T TCGA-BJ-A2NA-01A-12D-A19J-08 TCGA-BJ-A2NA-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fb47f70-88d5-4b3e-821e-cee5eb717471 055f269a-df3a-4063-a414-59e6a33cbba2 g.chr6:150464574G>T ENST00000361131.4 + 1 363 c.246G>T c.(244-246)cgG>cgT p.R82R NM_030949.2 NP_112211.1 Q8TAE6 PP14C_HUMAN protein phosphatase 1, regulatory (inhibitor) subunit 14C 82 regulation of phosphorylation cytoplasm|membrane endometrium(1)|large_intestine(1)|prostate(1) 3 Ovarian(120;0.0284) BRCA - Breast invasive adenocarcinoma(37;0.215) OV - Ovarian serous cystadenocarcinoma(155;9.14e-12) AGGAGCTTCGGAAGCGGCTGG 0.647000 7 16 0.000157383 0.00016246 0.003080 1 0 OR10Q1 219960 broad.mit.edu 37 11 57995529 57995529 + Silent SNP C C T TCGA-BJ-A2NA-01A-12D-A19J-08 TCGA-BJ-A2NA-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fb47f70-88d5-4b3e-821e-cee5eb717471 055f269a-df3a-4063-a414-59e6a33cbba2 g.chr11:57995529C>T ENST00000316770.2 - 1 861 c.819G>A c.(817-819)gaG>gaA p.E273E NM_001004471.2 NP_001004471.1 Q8NGQ4 O10Q1_HUMAN olfactory receptor, family 10, subfamily Q, member 1 273 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(26)|ovary(2) 35 Breast(21;0.0589) TGTCCTCATCCTCTGAGGTGC 0.572000 30 38 0 0 0.008361 0 0 OXER1 165140 broad.mit.edu 37 2 42991084 42991084 + Missense_Mutation SNP G G C TCGA-BJ-A2NA-01A-12D-A19J-08 TCGA-BJ-A2NA-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fb47f70-88d5-4b3e-821e-cee5eb717471 055f269a-df3a-4063-a414-59e6a33cbba2 g.chr2:42991084G>C ENST00000378661.2 - 1 317 c.236C>G c.(235-237)tCt>tGt p.S79C NM_148962.4 NP_683765.1 Q8TDS5 OXER1_HUMAN oxoeicosanoid (OXE) receptor 1 79 Ser-rich. regulation of cAMP biosynthetic process integral to membrane|plasma membrane 5(S)-hydroxyperoxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding|5-hydroxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding|5-oxo-6E,8Z,11Z,14Z-icosatetraenoic acid binding|G-protein coupled receptor activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1) 10 GGGCCCTCCAGAGGACCCCCC 0.627000 9 20 0 0 0.006214 0 0 CNTRL 11064 broad.mit.edu 37 9 123936008 123936008 + Missense_Mutation SNP G G A TCGA-BJ-A2NA-01A-12D-A19J-08 TCGA-BJ-A2NA-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fb47f70-88d5-4b3e-821e-cee5eb717471 055f269a-df3a-4063-a414-59e6a33cbba2 g.chr9:123936008G>A ENST00000373855.1 + 42 7000 c.6740G>A c.(6739-6741)cGa>cAa p.R2247Q CNTRL_ENST00000238341.5_Missense_Mutation_p.R2247Q|CNTRL_ENST00000373850.1_Missense_Mutation_p.R1695Q|CNTRL_ENST00000373845.2_3'UTR Q7Z7A1 CNTRL_HUMAN centriolin 2247 Sufficient for interaction with HOOK2. cell division|G2/M transition of mitotic cell cycle centrosome|cytosol protein binding haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3) 20 CGGGAAGACCGACTCAAGGTT 0.463000 18 108 0 0 0.006122 0 0 MRS2 57380 broad.mit.edu 37 6 24409748 24409748 + Nonsense_Mutation SNP C C T TCGA-BJ-A2NA-01A-12D-A19J-08 TCGA-BJ-A2NA-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fb47f70-88d5-4b3e-821e-cee5eb717471 055f269a-df3a-4063-a414-59e6a33cbba2 g.chr6:24409748C>T ENST00000378386.3 + 4 454 c.361C>T c.(361-363)Cag>Tag p.Q121* MRS2_ENST00000543597.1_5'UTR|MRS2_ENST00000443868.2_Nonsense_Mutation_p.Q121*|MRS2_ENST00000378353.1_Nonsense_Mutation_p.Q121*|MRS2_ENST00000535061.1_Intron|MRS2_ENST00000483634.1_Intron|MRS2_ENST00000274747.7_Intron NM_020662.2 NP_065713.1 Q9HD23 MRS2_HUMAN MRS2 magnesium transporter 121 ion transport integral to membrane|mitochondrial inner membrane breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)|stomach(1) 12 TTTGAGATTTCAGCATGTAAT 0.303000 5 68 0 0 0.001984 0 0 PIBF1 10464 broad.mit.edu 37 13 73539420 73539420 + Missense_Mutation SNP A A C TCGA-BJ-A2NA-01A-12D-A19J-08 TCGA-BJ-A2NA-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fb47f70-88d5-4b3e-821e-cee5eb717471 055f269a-df3a-4063-a414-59e6a33cbba2 g.chr13:73539420A>C ENST00000326291.6 + 15 2180 c.1842A>C c.(1840-1842)agA>agC p.R614S NM_006346.2 NP_006337.2 Q8WXW3 PIBF1_HUMAN progesterone immunomodulatory binding factor 1 614 DLEHRKDQVTQLSQELDR -> RSGTSKGPSNTAFTRSLTE (in Ref. 3; AAQ67659). centrosome breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 24 Prostate(6;0.00191)|Breast(118;0.0736)|Acute lymphoblastic leukemia(28;0.0865) GBM - Glioblastoma multiforme(99;0.000664) AGCTTGACAGAGCCAATTCGC 0.343000 10 29 0 0 0.013537 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-BJ-A2NA-01A-12D-A19J-08 TCGA-BJ-A2NA-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fb47f70-88d5-4b3e-821e-cee5eb717471 055f269a-df3a-4063-a414-59e6a33cbba2 g.chr7:140453136A>T ENST00000288602.6 - 15 1859 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333.4 NP_004324.2 P15056 BRAF_HUMAN v-raf murine sarcoma viral oncogene homolog B 600 Protein kinase. V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis). activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1) SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) TCGAGATTTCACTGTAGCTAG 0.368000 V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN) 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 18 53 0 0 0.007413 0 0 PPFIA3 8541 broad.mit.edu 37 19 49651468 49651468 + Silent SNP C C T TCGA-BJ-A2NA-01A-12D-A19J-08 TCGA-BJ-A2NA-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fb47f70-88d5-4b3e-821e-cee5eb717471 055f269a-df3a-4063-a414-59e6a33cbba2 g.chr19:49651468C>T ENST00000334186.4 + 24 3313 c.2964C>T c.(2962-2964)aaC>aaT p.N988N PPFIA3_ENST00000602351.1_Silent_p.N979N NM_003660.2 NP_003651.1 O75145 LIPA3_HUMAN protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3 988 SAM 2. cell surface|cytoplasm protein binding NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(16)|pancreas(1)|prostate(1)|skin(4)|urinary_tract(1) 35 all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392) all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677) ATCACCTTAACAAGAAGGAGC 0.612000 8 30 0 0 0.003080 0 0 WHSC1L1 54904 broad.mit.edu 37 8 38205277 38205277 + Missense_Mutation SNP G G A TCGA-BJ-A2NA-01A-12D-A19J-08 TCGA-BJ-A2NA-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fb47f70-88d5-4b3e-821e-cee5eb717471 055f269a-df3a-4063-a414-59e6a33cbba2 g.chr8:38205277G>A ENST00000317025.8 - 2 930 c.413C>T c.(412-414)tCg>tTg p.S138L WHSC1L1_ENST00000527502.1_Missense_Mutation_p.S138L|WHSC1L1_ENST00000433384.2_Missense_Mutation_p.S138L|WHSC1L1_ENST00000316985.3_Missense_Mutation_p.S138L NM_023034.1 NP_075447.1 Q9BZ95 NSD3_HUMAN Wolf-Hirschhorn syndrome candidate 1-like 1 138 cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome histone-lysine N-methyltransferase activity|zinc ion binding NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 24 Colorectal(12;0.000442)|Esophageal squamous(3;0.0725) all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065) Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511) TTGTGGTACCGAAGGAGGAGG 0.418000 T NUP98 AML 23 79 0 0 0.016522 0 0 PNCK 139728 broad.mit.edu 37 X 152937598 152937598 + Silent SNP G G A TCGA-BJ-A2NA-01A-12D-A19J-08 TCGA-BJ-A2NA-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fb47f70-88d5-4b3e-821e-cee5eb717471 055f269a-df3a-4063-a414-59e6a33cbba2 g.chrX:152937598G>A ENST00000393831.2 - 4 692 c.258C>T c.(256-258)ctC>ctT p.L86L PNCK_ENST00000370145.4_Silent_p.L103L|PNCK_ENST00000370150.1_Silent_p.L86L|PNCK_ENST00000340888.3_Silent_p.L86L|PNCK_ENST00000447676.2_Silent_p.L169L|PNCK_ENST00000475172.1_5'UTR|PNCK_ENST00000370142.1_Silent_p.L86L NM_001039582.3 NP_001034671.3 Q6P2M8 KCC1B_HUMAN pregnancy up-regulated nonubiquitous CaM kinase 86 Protein kinase. cytoplasm|nucleus ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity p.L86L(1)|p.L103L(1)|p.L115L(1) breast(2)|lung(3)|skin(1) 6 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) TGGCCAGGTAGAGGTGGGAAG 0.637000 6 22 0 0 0.001984 0 0 RASD2 23551 broad.mit.edu 37 22 35947855 35947855 + Missense_Mutation SNP C C T TCGA-BJ-A2NA-01A-12D-A19J-08 TCGA-BJ-A2NA-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fb47f70-88d5-4b3e-821e-cee5eb717471 055f269a-df3a-4063-a414-59e6a33cbba2 g.chr22:35947855C>T ENST00000216127.4 + 3 1219 c.577C>T c.(577-579)Cca>Tca p.P193S NM_014310.3 NP_055125.2 Q96D21 RHES_HUMAN RASD family, member 2 193 Interaction with GNB1, GNB2 and GNB3. locomotory behavior|positive regulation of protein kinase B signaling cascade|positive regulation of protein sumoylation|regulation of cAMP-mediated signaling intracellular|plasma membrane G-protein beta-subunit binding|GTP binding|GTPase activity endometrium(2)|large_intestine(1)|lung(8)|prostate(1)|skin(1) 13 GGCCAAGCTGCCACACGAGAT 0.612000 3 34 0 0 0.004672 0 0 HLA-A 3105 broad.mit.edu 37 6 29910607 29910607 + Silent SNP G G C rs72555397 TCGA-BJ-A2NA-01A-12D-A19J-08 TCGA-BJ-A2NA-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fb47f70-88d5-4b3e-821e-cee5eb717471 055f269a-df3a-4063-a414-59e6a33cbba2 g.chr6:29910607G>C ENST00000396634.1 + 4 488 c.147G>C c.(145-147)gtG>gtC p.V49V HLA-A_ENST00000376806.5_Silent_p.V49V|HLA-A_ENST00000376802.2_Silent_p.V49V|HLA-A_ENST00000376809.5_Silent_p.V49V P30443 1A01_HUMAN major histocompatibility complex, class I, A 49 Alpha-1. antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway integral to plasma membrane|MHC class I protein complex MHC class I receptor activity p.V49V(2) central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 30 TCATCGCCGTGGGCTACGTGG 0.692000 Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of Multiple Myeloma(9;0.094) 3 29 0 0 0.004672 0 0 CYC1 1537 broad.mit.edu 37 8 145150862 145150862 + Missense_Mutation SNP G G A TCGA-BJ-A2NA-01A-12D-A19J-08 TCGA-BJ-A2NA-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fb47f70-88d5-4b3e-821e-cee5eb717471 055f269a-df3a-4063-a414-59e6a33cbba2 g.chr8:145150862G>A ENST00000318911.4 + 2 329 c.256G>A c.(256-258)Gac>Aac p.D86N NM_001916.3 NP_001907.2 P08574 CY1_HUMAN cytochrome c-1 86 respiratory electron transport chain|transport cell junction|integral to membrane|mitochondrial inner membrane|respiratory chain electron transporter, transferring electrons from CoQH2-cytochrome c reductase complex and cytochrome c oxidase complex activity|heme binding endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(2) 15 all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;8.71e-40)|all cancers(56;3e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) GAGTGCCAGTGACCTGGAGCT 0.672000 OREG0019052 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 6 44 0 0 0.001984 0 0 ZDHHC14 79683 broad.mit.edu 37 6 157803239 157803239 + Silent SNP C C T TCGA-BJ-A2NA-01A-12D-A19J-08 TCGA-BJ-A2NA-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fb47f70-88d5-4b3e-821e-cee5eb717471 055f269a-df3a-4063-a414-59e6a33cbba2 g.chr6:157803239C>T ENST00000359775.5 + 1 1075 c.186C>T c.(184-186)ggC>ggT p.G62G ZDHHC14_ENST00000414563.2_Silent_p.G62G Q8IZN3 ZDH14_HUMAN zinc finger, DHHC-type containing 14 62 integral to membrane acyltransferase activity|zinc ion binding central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|skin(1) 17 Breast(66;0.00586)|Ovarian(120;0.123) OV - Ovarian serous cystadenocarcinoma(65;2.9e-17)|BRCA - Breast invasive adenocarcinoma(81;5.8e-05) GGCAGACGGGCGTCTTCTACC 0.592000 18 36 0 0 0.007413 0 0 FAM171B 165215 broad.mit.edu 37 2 187559053 187559053 + Silent SNP A A G rs2370706 TCGA-BJ-A2NA-01A-12D-A19J-08 TCGA-BJ-A2NA-11A-11D-A19J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fb47f70-88d5-4b3e-821e-cee5eb717471 c88a3e4d-4316-4bc3-b2fa-0ac3dd76e558 g.chr2:187559053A>G ENST00000304698.5 + 1 356 c.153A>G c.(151-153)caA>caG p.Q51Q AC017101.10_ENST00000453665.1_RNA NM_177454.3 NP_803237.3 Q6P995 F171B_HUMAN family with sequence similarity 171, member B 51 Gln-rich. integral to membrane DNA binding NS(1)|breast(6)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(22)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 54 agcagcaacaacaacaacaac 0.632000 3 21 0 0 0.004672 0 0 SUPT20H 55578 broad.mit.edu 37 13 37622068 37622068 + Silent SNP G G A TCGA-BJ-A2NA-01A-12D-A19J-08 TCGA-BJ-A2NA-11A-11D-A19J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fb47f70-88d5-4b3e-821e-cee5eb717471 c88a3e4d-4316-4bc3-b2fa-0ac3dd76e558 g.chr13:37622068G>A ENST00000360252.4 - 4 292 c.45C>T c.(43-45)gtC>gtT p.V15V SUPT20H_ENST00000470359.2_5'UTR|SUPT20H_ENST00000464744.1_Silent_p.V15V|SUPT20H_ENST00000356185.3_Silent_p.V15V|SUPT20H_ENST00000475892.1_Silent_p.V15V|SUPT20H_ENST00000350612.6_Silent_p.V15V|SUPT20H_ENST00000542180.1_Silent_p.V3V NM_001278481.1|NM_001278482.1|NM_017569.3 NP_001265410.1|NP_001265411.1|NP_060039.1 suppressor of Ty 20 homolog (S. cerevisiae) CACTTTCAATGACATACTAAA 0.318000 6 52 0 0 0.001168 0 0 SNX31 169166 broad.mit.edu 37 8 101661544 101661544 + Silent SNP G G A TCGA-BJ-A2NA-01A-12D-A19J-08 TCGA-BJ-A2NA-11A-11D-A19J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fb47f70-88d5-4b3e-821e-cee5eb717471 c88a3e4d-4316-4bc3-b2fa-0ac3dd76e558 g.chr8:101661544G>A ENST00000311812.2 - 2 249 c.99C>T c.(97-99)ttC>ttT p.F33F NM_152628.3 NP_689841.3 Q8N9S9 SNX31_HUMAN sorting nexin 31 33 PX. cell communication|protein transport phosphatidylinositol binding NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|skin(3)|urinary_tract(1) 26 all_cancers(14;4.01e-05)|all_epithelial(15;1.26e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125) Epithelial(11;1.21e-11)|all cancers(13;2.62e-09)|OV - Ovarian serous cystadenocarcinoma(57;3.22e-06)|STAD - Stomach adenocarcinoma(118;0.206) GCACCCTGCAGAAGAGGAACC 0.612000 4 34 0 0 0.014758 0 0 PPFIA3 8541 broad.mit.edu 37 19 49651468 49651468 + Silent SNP C C T TCGA-BJ-A2NA-01A-12D-A19J-08 TCGA-BJ-A2NA-11A-11D-A19J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fb47f70-88d5-4b3e-821e-cee5eb717471 c88a3e4d-4316-4bc3-b2fa-0ac3dd76e558 g.chr19:49651468C>T ENST00000334186.4 + 24 3313 c.2964C>T c.(2962-2964)aaC>aaT p.N988N PPFIA3_ENST00000602351.1_Silent_p.N979N NM_003660.2 NP_003651.1 O75145 LIPA3_HUMAN protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3 988 SAM 2. cell surface|cytoplasm protein binding NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(16)|pancreas(1)|prostate(1)|skin(4)|urinary_tract(1) 35 all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392) all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677) ATCACCTTAACAAGAAGGAGC 0.612000 8 30 0 0 0.003080 0 0 NKX2-1 7080 broad.mit.edu 37 14 36988488 36988488 + Missense_Mutation SNP C C G TCGA-BJ-A2NA-01A-12D-A19J-08 TCGA-BJ-A2NA-11A-11D-A19J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fb47f70-88d5-4b3e-821e-cee5eb717471 c88a3e4d-4316-4bc3-b2fa-0ac3dd76e558 g.chr14:36988488C>G ENST00000518149.1 - 2 680 c.75G>C c.(73-75)aaG>aaC p.K25N NKX2-1_ENST00000522719.2_Missense_Mutation_p.K25N|NKX2-1_ENST00000498187.2_Missense_Mutation_p.K25N|NKX2-1-AS1_ENST00000521292.2_RNA|NKX2-1_ENST00000354822.5_Missense_Mutation_p.K55N|RP11-896J10.3_ENST00000521945.1_RNA P43699 NKX21_HUMAN NK2 homeobox 1 25 epithelial tube branching involved in lung morphogenesis|globus pallidus development|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|thyroid gland development protein binding|transcription regulatory region DNA binding large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(2) 7 all_cancers(3;4.47e-51)|Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)|Breast(36;0.165) Lung(8;1.8e-08)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.014)|all cancers(34;0.0366)|LUSC - Lung squamous cell carcinoma(13;0.132) GBM - Glioblastoma multiforme(112;0.0171) TGCCCACTTTCTTGTAGCTTT 0.652000 A NSCLC 3 20 0 0 0.009096 0 0 OR2C1 4993 broad.mit.edu 37 16 3405956 3405956 + Missense_Mutation SNP G G C TCGA-BJ-A2NA-01A-12D-A19J-08 TCGA-BJ-A2NA-11A-11D-A19J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fb47f70-88d5-4b3e-821e-cee5eb717471 c88a3e4d-4316-4bc3-b2fa-0ac3dd76e558 g.chr16:3405956G>C ENST00000304936.2 + 1 68 c.16G>C c.(16-18)Gat>Cat p.D6H NM_012368.2 NP_036500.2 O95371 OR2C1_HUMAN olfactory receptor, family 2, subfamily C, member 1 6 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(1)|large_intestine(2)|liver(1)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 12 CGGGGTGAATGATAGCTCCTT 0.463000 9 42 0 0 0.006214 0 0 SLC13A5 284111 broad.mit.edu 37 17 6607201 6607201 + Silent SNP C C A TCGA-BJ-A2NA-01A-12D-A19J-08 TCGA-BJ-A2NA-11A-11D-A19J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fb47f70-88d5-4b3e-821e-cee5eb717471 c88a3e4d-4316-4bc3-b2fa-0ac3dd76e558 g.chr17:6607201C>A ENST00000433363.2 - 4 776 c.543G>T c.(541-543)ctG>ctT p.L181L SLC13A5_ENST00000293800.6_Silent_p.L164L|SLC13A5_ENST00000573648.1_Silent_p.L181L|SLC13A5_ENST00000381074.4_Silent_p.L138L NM_177550.3 NP_808218.1 Q86YT5 S13A5_HUMAN solute carrier family 13 (sodium-dependent citrate transporter), member 5 181 integral to membrane citrate transmembrane transporter activity p.L181L(3) breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|prostate(5)|skin(3)|urinary_tract(1) 26 GCTCACCTGGCAGCTCCTTGG 0.642000 5 22 5.9392e-07 6.29915e-07 0.001168 1 0 SPC25 57405 broad.mit.edu 37 2 169732647 169732647 + Missense_Mutation SNP T T C TCGA-BJ-A2NA-01A-12D-A19J-08 TCGA-BJ-A2NA-11A-11D-A19J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fb47f70-88d5-4b3e-821e-cee5eb717471 c88a3e4d-4316-4bc3-b2fa-0ac3dd76e558 g.chr2:169732647T>C ENST00000282074.2 - 5 527 c.386A>G c.(385-387)aAa>aGa p.K129R NM_020675.3 NP_065726.1 Q9HBM1 SPC25_HUMAN SPC25, NDC80 kinetochore complex component 129 Interaction with the N-terminus of SPBC24. cell division|chromosome segregation|mitotic prometaphase|mitotic spindle organization condensed chromosome kinetochore|cytosol|Ndc80 complex|nucleus protein binding central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(1) 9 CTGCAGCCTTTTCAACCTCTC 0.289000 2 17 0 0 0.004672 0 0 PHF23 79142 broad.mit.edu 37 17 7139847 7139847 + Silent SNP G G C TCGA-BJ-A2NA-01A-12D-A19J-08 TCGA-BJ-A2NA-11A-11D-A19J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fb47f70-88d5-4b3e-821e-cee5eb717471 c88a3e4d-4316-4bc3-b2fa-0ac3dd76e558 g.chr17:7139847G>C ENST00000320316.3 - 4 625 c.399C>G c.(397-399)ctC>ctG p.L133L PHF23_ENST00000454255.2_Silent_p.L129L|PHF23_ENST00000571362.1_Silent_p.L66L|PHF23_ENST00000576955.1_Silent_p.L3L NM_024297.2 NP_077273.2 Q9BUL5 PHF23_HUMAN PHD finger protein 23 133 zinc ion binding breast(4)|kidney(2)|large_intestine(6)|lung(3) 15 GAGAGTCCTTGAGCTTCATCT 0.602000 11 65 0 0 0.010729 0 0 OXER1 165140 broad.mit.edu 37 2 42991172 42991172 + Missense_Mutation SNP G G A TCGA-BJ-A2NA-01A-12D-A19J-08 TCGA-BJ-A2NA-11A-11D-A19J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fb47f70-88d5-4b3e-821e-cee5eb717471 c88a3e4d-4316-4bc3-b2fa-0ac3dd76e558 g.chr2:42991172G>A ENST00000378661.2 - 1 229 c.148C>T c.(148-150)Ccc>Tcc p.P50S NM_148962.4 NP_683765.1 Q8TDS5 OXER1_HUMAN oxoeicosanoid (OXE) receptor 1 50 Ser-rich. regulation of cAMP biosynthetic process integral to membrane|plasma membrane 5(S)-hydroxyperoxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding|5-hydroxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding|5-oxo-6E,8Z,11Z,14Z-icosatetraenoic acid binding|G-protein coupled receptor activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1) 10 gagagagagggagatggagag 0.602000 6 39 0 0 0.001984 0 0 IGSF22 283284 broad.mit.edu 37 11 18741432 18741432 + Missense_Mutation SNP G G A TCGA-BJ-A2NA-01A-12D-A19J-08 TCGA-BJ-A2NA-11A-11D-A19J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fb47f70-88d5-4b3e-821e-cee5eb717471 c88a3e4d-4316-4bc3-b2fa-0ac3dd76e558 g.chr11:18741432G>A ENST00000513874.1 - 7 666 c.527C>T c.(526-528)cCt>cTt p.P176L RP11-1081L13.4_ENST00000527285.1_RNA NM_173588.3 NP_775859.3 Q8N9C0 IGS22_HUMAN immunoglobulin superfamily, member 22 176 Lys-rich. NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3) 56 CTTGGGAGCAGGGGGTGCCCT 0.502000 7 117 0 0 0.001984 0 0 ABHD2 11057 broad.mit.edu 37 15 89659640 89659640 + Missense_Mutation SNP G G A TCGA-BJ-A2NA-01A-12D-A19J-08 TCGA-BJ-A2NA-11A-11D-A19J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fb47f70-88d5-4b3e-821e-cee5eb717471 c88a3e4d-4316-4bc3-b2fa-0ac3dd76e558 g.chr15:89659640G>A ENST00000352732.5 + 3 602 c.82G>A c.(82-84)Gtg>Atg p.V28M ABHD2_ENST00000565973.1_Missense_Mutation_p.V28M|ABHD2_ENST00000355100.3_Missense_Mutation_p.V28M NM_152924.4 NP_690888.1 P08910 ABHD2_HUMAN abhydrolase domain containing 2 28 integral to membrane carboxylesterase activity NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|soft_tissue(1) 23 Lung NSC(78;0.0472)|all_lung(78;0.089) TGTGCTGTACGTGATCGTCCG 0.577000 34 59 0 0 0.015359 0 0 EP400 57634 broad.mit.edu 37 12 132547087 132547087 + Silent SNP G G A rs12366766 TCGA-BJ-A2NA-01A-12D-A19J-08 TCGA-BJ-A2NA-11A-11D-A19J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fb47f70-88d5-4b3e-821e-cee5eb717471 c88a3e4d-4316-4bc3-b2fa-0ac3dd76e558 g.chr12:132547087G>A ENST00000333577.4 + 48 8392 c.8283G>A c.(8281-8283)caG>caA p.Q2761Q EP400_ENST00000330386.6_Silent_p.Q2644Q|EP400_ENST00000332482.4_Silent_p.Q2688Q|EP400_ENST00000389561.2_Silent_p.Q2725Q|EP400_ENST00000389562.2_Silent_p.Q2724Q Q96L91 EP400_HUMAN E1A binding protein p400 2761 Interaction with ZNF42 (By similarity).|Poly-Gln. histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity p.Q2724Q(16)|p.Q2725Q(1) NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 161 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) agcagcagcagcaacaacagc 0.562000 3 42 0 0 0.014758 0 0 ST8SIA1 6489 broad.mit.edu 37 12 22487068 22487068 + Silent SNP A A G TCGA-BJ-A2NA-01A-12D-A19J-08 TCGA-BJ-A2NA-11A-11D-A19J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fb47f70-88d5-4b3e-821e-cee5eb717471 c88a3e4d-4316-4bc3-b2fa-0ac3dd76e558 g.chr12:22487068A>G ENST00000396037.4 - 1 580 c.99T>C c.(97-99)agT>agC p.S33S ST8SIA1_ENST00000536558.1_Intron|ST8SIA1_ENST00000381424.3_Silent_p.S33S|ST8SIA1_ENST00000539510.1_5'UTR|ST8SIA1_ENST00000404299.3_Silent_p.S33S NM_003034.3 NP_003025.1 Q92185 SIA8A_HUMAN ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 1 33 glycosphingolipid biosynthetic process|protein glycosylation integral to Golgi membrane alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1) 25 CACAGAGGGCACTGGCTCCCA 0.667000 29 72 0 0 0.008361 0 0 MYF5 4617 broad.mit.edu 37 12 81112653 81112653 + Silent SNP T T C TCGA-BJ-A2NA-01A-12D-A19J-08 TCGA-BJ-A2NA-11A-11D-A19J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fb47f70-88d5-4b3e-821e-cee5eb717471 c88a3e4d-4316-4bc3-b2fa-0ac3dd76e558 g.chr12:81112653T>C ENST00000228644.3 + 3 743 c.591T>C c.(589-591)gaT>gaC p.D197D NM_005593.2 NP_005584.2 P13349 MYF5_HUMAN myogenic factor 5 197 muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development nucleoplasm DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1) 30 ATGCCACAGATAAAAACTCCT 0.423000 34 60 0 0 0.021022 0 0 TDGF1P3 0 broad.mit.edu 37 X 109764445 109764445 + RNA SNP G G A TCGA-BJ-A2NA-01A-12D-A19J-08 TCGA-BJ-A2NA-11A-11D-A19J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fb47f70-88d5-4b3e-821e-cee5eb717471 c88a3e4d-4316-4bc3-b2fa-0ac3dd76e558 g.chrX:109764445G>A ENST00000602699.1 + 0 906 NR_002718.2 ATTAGTTGCCGGGCTGGGCCA 0.522000 11 31 0 0 0.013537 0 0 MDN1 23195 broad.mit.edu 37 6 90400467 90400467 + Silent SNP C C T TCGA-BJ-A2NA-01A-12D-A19J-08 TCGA-BJ-A2NA-11A-11D-A19J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fb47f70-88d5-4b3e-821e-cee5eb717471 c88a3e4d-4316-4bc3-b2fa-0ac3dd76e558 g.chr6:90400467C>T ENST00000369393.3 - 64 10789 c.10674G>A c.(10672-10674)agG>agA p.R3558R MDN1_ENST00000428876.1_Silent_p.R3558R Q9NU22 MDN1_HUMAN MDN1, midasin homolog (yeast) 3558 protein complex assembly|regulation of protein complex assembly nucleus ATP binding|ATPase activity|unfolded protein binding NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 218 all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246) BRCA - Breast invasive adenocarcinoma(108;0.0193) TCCTAGAGTTCCTGCTCCTGT 0.517000 6 42 0 0 0.001984 0 0 SWSAP1 126074 broad.mit.edu 37 19 11486194 11486194 + Silent SNP C C A TCGA-BJ-A2NA-01A-12D-A19J-08 TCGA-BJ-A2NA-11A-11D-A19J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fb47f70-88d5-4b3e-821e-cee5eb717471 c88a3e4d-4316-4bc3-b2fa-0ac3dd76e558 g.chr19:11486194C>A ENST00000312423.2 + 2 251 c.192C>A c.(190-192)atC>atA p.I64I NM_175871.3 NP_787067.2 Q6NVH7 CS039_HUMAN SWIM-type zinc finger 7 associated protein 1 64 TCTAGAAGATCCGCTTCCAGT 0.587000 80 134 4.64247e-43 5.0777e-43 0.014410 1 0 LINC00969 0 broad.mit.edu 37 3 195400728 195400728 + RNA SNP A A G rs12107841 by1000genomes TCGA-BJ-A2NA-01A-12D-A19J-08 TCGA-BJ-A2NA-11A-11D-A19J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fb47f70-88d5-4b3e-821e-cee5eb717471 c88a3e4d-4316-4bc3-b2fa-0ac3dd76e558 g.chr3:195400728A>G ENST00000445430.1 + 0 1324 GATTGTGCCCAGCCTGTACGC 0.587000 3 16 0 0 0.009096 0 0 OXER1 165140 broad.mit.edu 37 2 42991137 42991137 + Silent SNP G G A TCGA-BJ-A2NA-01A-12D-A19J-08 TCGA-BJ-A2NA-11A-11D-A19J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fb47f70-88d5-4b3e-821e-cee5eb717471 c88a3e4d-4316-4bc3-b2fa-0ac3dd76e558 g.chr2:42991137G>A ENST00000378661.2 - 1 264 c.183C>T c.(181-183)ttC>ttT p.F61F NM_148962.4 NP_683765.1 Q8TDS5 OXER1_HUMAN oxoeicosanoid (OXE) receptor 1 61 Ser-rich. regulation of cAMP biosynthetic process integral to membrane|plasma membrane 5(S)-hydroxyperoxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding|5-hydroxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding|5-oxo-6E,8Z,11Z,14Z-icosatetraenoic acid binding|G-protein coupled receptor activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1) 10 gtgagggagagaaggagggag 0.612000 8 20 0 0 0.003080 0 0 ALOX12B 242 broad.mit.edu 37 17 7977036 7977036 + Missense_Mutation SNP C C T TCGA-BJ-A2NA-01A-12D-A19J-08 TCGA-BJ-A2NA-11A-11D-A19J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fb47f70-88d5-4b3e-821e-cee5eb717471 c88a3e4d-4316-4bc3-b2fa-0ac3dd76e558 g.chr17:7977036C>T ENST00000319144.4 - 13 1954 c.1694G>A c.(1693-1695)cGa>cAa p.R565Q ALOX12B_ENST00000577351.1_Intron NM_001139.2 NP_001130.1 O75342 LX12B_HUMAN arachidonate 12-lipoxygenase, 12R type 565 Lipoxygenase. epidermis development|leukotriene biosynthetic process arachidonate 12-lipoxygenase activity|iron ion binding|lipoxygenase activity endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|stomach(1) 16 AGTGACATATCGGATCAGCTC 0.622000 Multiple Myeloma(8;0.094) OREG0024152 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 20 0 0 0.004672 0 0 NFE2L3 9603 broad.mit.edu 37 7 26224243 26224243 + Missense_Mutation SNP A A G rs144296822 byFrequency TCGA-BJ-A2NA-01A-12D-A19J-08 TCGA-BJ-A2NA-11A-11D-A19J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fb47f70-88d5-4b3e-821e-cee5eb717471 c88a3e4d-4316-4bc3-b2fa-0ac3dd76e558 g.chr7:26224243A>G ENST00000056233.3 + 4 1184 c.925A>G c.(925-927)Ata>Gta p.I309V NM_004289.6 NP_004280.5 Q9Y4A8 NF2L3_HUMAN nuclear factor, erythroid 2-like 3 309 transcription from RNA polymerase II promoter nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(5)|urinary_tract(7) 29 CAGCCAGGCTATAAGTCAGGA 0.423000 43 70 0 0 0.008740 0 0 MLLT3 4300 broad.mit.edu 37 9 20414343 20414343 + Silent SNP A A G TCGA-BJ-A2NA-01A-12D-A19J-08 TCGA-BJ-A2NA-11A-11D-A19J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fb47f70-88d5-4b3e-821e-cee5eb717471 c88a3e4d-4316-4bc3-b2fa-0ac3dd76e558 g.chr9:20414343A>G ENST00000380338.4 - 5 787 c.501T>C c.(499-501)agT>agC p.S167S MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S164S|MLLT3_ENST00000355930.6_5'UTR NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 167 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.S167S(19) central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7) 66 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) tgctgctgctactgctgctgc 0.532000 T MLL ALL 4 51 0 0 0.014758 0 0 AL031666.2 0 broad.mit.edu 37 20 45947814 45947814 + Silent SNP A A G TCGA-BJ-A2NA-01A-12D-A19J-08 TCGA-BJ-A2NA-11A-11D-A19J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fb47f70-88d5-4b3e-821e-cee5eb717471 c88a3e4d-4316-4bc3-b2fa-0ac3dd76e558 g.chr20:45947814A>G ENST00000599904.1 + 1 569 c.450A>G c.(448-450)ggA>ggG p.G150G ZMYND8_ENST00000262975.4_Intron|ZMYND8_ENST00000396281.4_Intron|ZMYND8_ENST00000471951.2_Intron|ZMYND8_ENST00000536340.1_Intron|ZMYND8_ENST00000311275.7_Intron|ZMYND8_ENST00000540497.1_Intron|ZMYND8_ENST00000360911.3_Intron|ZMYND8_ENST00000461685.1_Intron|ZMYND8_ENST00000355972.4_Intron|ZMYND8_ENST00000352431.2_Intron|ZMYND8_ENST00000446994.2_Intron|ZMYND8_ENST00000372023.3_Intron|ZMYND8_ENST00000458360.2_Intron TCCCAGGGGGAGGAGGAAGAA 0.592000 2 7 0 0 0.004672 0 0 PHF23 79142 broad.mit.edu 37 17 7139630 7139630 + Missense_Mutation SNP G G C TCGA-BJ-A2NA-01A-12D-A19J-08 TCGA-BJ-A2NA-11A-11D-A19J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fb47f70-88d5-4b3e-821e-cee5eb717471 c88a3e4d-4316-4bc3-b2fa-0ac3dd76e558 g.chr17:7139630G>C ENST00000320316.3 - 4 842 c.616C>G c.(616-618)Cct>Gct p.P206A PHF23_ENST00000454255.2_Missense_Mutation_p.P202A|PHF23_ENST00000571362.1_Missense_Mutation_p.P139A|PHF23_ENST00000576955.1_Missense_Mutation_p.P76A NM_024297.2 NP_077273.2 Q9BUL5 PHF23_HUMAN PHD finger protein 23 206 zinc ion binding breast(4)|kidney(2)|large_intestine(6)|lung(3) 15 CCATCCCCAGGAGTTGGCCGA 0.582000 17 76 0 0 0.004007 0 0 TAF7L 54457 broad.mit.edu 37 X 100547854 100547854 + Translation_Start_Site SNP G G A TCGA-BJ-A2NA-01A-12D-A19J-08 TCGA-BJ-A2NA-11A-11D-A19J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fb47f70-88d5-4b3e-821e-cee5eb717471 c88a3e4d-4316-4bc3-b2fa-0ac3dd76e558 g.chrX:100547854G>A ENST00000372905.2 - 0 205 TAF7L_ENST00000372907.3_Silent_p.D60D Q5H9L4 TAF7L_HUMAN TAF7-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 50kDa cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription initiation from RNA polymerase II promoter cytoplasm|transcription factor TFIID complex binding NS(1)|breast(4)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 29 GAGTGTCCTCGTCGGCAGGAA 0.562000 65 27 0 0 0.014410 0 0 FA2H 79152 broad.mit.edu 37 16 74750252 74750252 + Missense_Mutation SNP C C G TCGA-BJ-A2NA-01A-12D-A19J-08 TCGA-BJ-A2NA-11A-11D-A19J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fb47f70-88d5-4b3e-821e-cee5eb717471 c88a3e4d-4316-4bc3-b2fa-0ac3dd76e558 g.chr16:74750252C>G ENST00000219368.3 - 6 1101 c.1032G>C c.(1030-1032)caG>caC p.Q344H FA2H_ENST00000544337.1_Missense_Mutation_p.Q131H NM_024306.4 NP_077282.3 Q7L5A8 FA2H_HUMAN fatty acid 2-hydroxylase 344 cell death|electron transport chain|fatty acid biosynthetic process|sphingolipid metabolic process|transport endoplasmic reticulum membrane|integral to membrane|microsome heme binding|oxidoreductase activity endometrium(2)|large_intestine(4)|lung(3)|skin(1) 10 CACCTGACTTCTGATGTGCAA 0.542000 7 42 0 0 0.003080 0 0 CSAG4 0 broad.mit.edu 37 X 151896589 151896589 + RNA SNP C C A TCGA-BJ-A2NA-01A-12D-A19J-08 TCGA-BJ-A2NA-11A-11D-A19J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fb47f70-88d5-4b3e-821e-cee5eb717471 c88a3e4d-4316-4bc3-b2fa-0ac3dd76e558 g.chrX:151896589C>A ENST00000361201.4 - 0 351 NR_073432.1 p.L11F(1) endometrium(2)|kidney(2)|lung(1) 5 GGTTGTTGGACAATGGGCTGG 0.557000 4 72 0.00024832 0.000255624 0.009096 1 0 KIAA0319L 79932 broad.mit.edu 37 1 35915475 35915475 + Silent SNP C C T TCGA-BJ-A2NA-01A-12D-A19J-08 TCGA-BJ-A2NA-11A-11D-A19J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fb47f70-88d5-4b3e-821e-cee5eb717471 c88a3e4d-4316-4bc3-b2fa-0ac3dd76e558 g.chr1:35915475C>T ENST00000325722.3 - 15 2580 c.2346G>A c.(2344-2346)gtG>gtA p.V782V KIAA0319L_ENST00000485551.1_5'UTR|KIAA0319L_ENST00000373266.4_Silent_p.V219V NM_024874.4 NP_079150.3 Q8IZA0 K319L_HUMAN KIAA0319-like 782 PKD 5. cytoplasmic vesicle part|integral to membrane protein binding breast(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(12)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1) 34 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) CACCAGGTTTCACCTCCACAG 0.493000 11 44 0 0 0.010729 0 0 KHNYN 23351 broad.mit.edu 37 14 24900883 24900883 + Missense_Mutation SNP C C T TCGA-BJ-A2NA-01A-12D-A19J-08 TCGA-BJ-A2NA-11A-11D-A19J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fb47f70-88d5-4b3e-821e-cee5eb717471 c88a3e4d-4316-4bc3-b2fa-0ac3dd76e558 g.chr14:24900883C>T ENST00000251343.5 + 3 555 c.416C>T c.(415-417)gCa>gTa p.A139V KHNYN_ENST00000556842.1_Missense_Mutation_p.A139V|KHNYN_ENST00000553935.1_Missense_Mutation_p.A139V O15037 KHNYN_HUMAN KH and NYN domain containing 139 kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(3) 24 GAAGAGCTGGCAGAGCGGCTG 0.622000 OREG0022627 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 8 55 0 0 0.003080 0 0 UNC13A 23025 broad.mit.edu 37 19 17756912 17756912 + Missense_Mutation SNP C C T TCGA-BJ-A2NA-01A-12D-A19J-08 TCGA-BJ-A2NA-11A-11D-A19J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fb47f70-88d5-4b3e-821e-cee5eb717471 c88a3e4d-4316-4bc3-b2fa-0ac3dd76e558 g.chr19:17756912C>T ENST00000428389.2 - 19 2316 c.2317G>A c.(2317-2319)Gcc>Acc p.A773T UNC13A_ENST00000252773.7_Missense_Mutation_p.A685T|UNC13A_ENST00000519716.2_Missense_Mutation_p.A685T|UNC13A_ENST00000550896.1_Missense_Mutation_p.A683T|UNC13A_ENST00000552293.1_Missense_Mutation_p.A685T|UNC13A_ENST00000551649.1_Missense_Mutation_p.A685T Q9UPW8 UN13A_HUMAN unc-13 homolog A (C. elegans) 685 exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding p.A685T(1) breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2) 61 AAGCCCTGGGCGCAGACCACT 0.557000 5 23 0 0 0.001168 0 0 KRTAP4-9 100132386 broad.mit.edu 37 17 39261693 39261693 + Missense_Mutation SNP A A T rs113059833 by1000genomes TCGA-BJ-A2NA-01A-12D-A19J-08 TCGA-BJ-A2NA-11A-11D-A19J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fb47f70-88d5-4b3e-821e-cee5eb717471 c88a3e4d-4316-4bc3-b2fa-0ac3dd76e558 g.chr17:39261693A>T ENST00000391415.1 + 1 110 c.53A>T c.(52-54)gAc>gTc p.D18V NM_001146041.1 NP_001139513.1 Q9BYQ8 KRA49_HUMAN keratin associated protein 4-9 18 keratin filament p.D18V(1) central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3) 14 TGCGGCCAAGACCTCTGTCAG 0.627000 5 29 0 0 0.001984 0 0 ATG14 22863 broad.mit.edu 37 14 55848817 55848817 + Missense_Mutation SNP G G A TCGA-BJ-A2NA-01A-12D-A19J-08 TCGA-BJ-A2NA-11A-11D-A19J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fb47f70-88d5-4b3e-821e-cee5eb717471 c88a3e4d-4316-4bc3-b2fa-0ac3dd76e558 g.chr14:55848817G>A ENST00000247178.5 - 6 775 c.740C>T c.(739-741)tCa>tTa p.S247L NM_014924.4 NP_055739.2 Q6ZNE5 BAKOR_HUMAN autophagy related 14 247 autophagic vacuole assembly|positive regulation of autophagy autophagic vacuole|endoplasmic reticulum|pre-autophagosomal structure membrane protein binding central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(2) 13 CCATCGTCCTGAGAGGTAAGT 0.532000 21 81 0 0 0.014323 0 0 SLC34A2 10568 broad.mit.edu 37 4 25678361 25678361 + Missense_Mutation SNP C C T TCGA-BJ-A2NA-01A-12D-A19J-08 TCGA-BJ-A2NA-11A-11D-A19J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fb47f70-88d5-4b3e-821e-cee5eb717471 c88a3e4d-4316-4bc3-b2fa-0ac3dd76e558 g.chr4:25678361C>T ENST00000382051.3 + 13 2113 c.2063C>T c.(2062-2064)aCg>aTg p.T688M SLC34A2_ENST00000504570.1_Missense_Mutation_p.T687M|SLC34A2_ENST00000503434.1_Missense_Mutation_p.T687M NM_001177998.1|NM_006424.2 NP_001171469.1|NP_006415.2 O95436 NPT2B_HUMAN solute carrier family 34 (type II sodium/phosphate contransporter), member 2 688 cellular phosphate ion homeostasis apical plasma membrane|brush border membrane|integral to plasma membrane phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity SLC34A2/ROS1(14) breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4) 41 Breast(46;0.0503) ACCGAATGCACGGCCTTGTAG 0.567000 T ROS1 NSCLC 20 33 0 0 0.008871 0 0 TTBK2 146057 broad.mit.edu 37 15 43067809 43067809 + Missense_Mutation SNP C C T TCGA-BJ-A2NA-01A-12D-A19J-08 TCGA-BJ-A2NA-11A-11D-A19J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fb47f70-88d5-4b3e-821e-cee5eb717471 c88a3e4d-4316-4bc3-b2fa-0ac3dd76e558 g.chr15:43067809C>T ENST00000267890.6 - 13 1630 c.1522G>A c.(1522-1524)Gat>Aat p.D508N NM_173500.3 NP_775771.3 Q6IQ55 TTBK2_HUMAN tau tubulin kinase 2 508 cell death ATP binding|protein serine/threonine kinase activity NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2) 43 all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216) GBM - Glioblastoma multiforme(94;3.23e-07) TATTCTTCATCATAGTGCCAG 0.502000 12 80 0 0 0.013537 0 0 CREB3L3 84699 broad.mit.edu 37 19 4154971 4154971 + Missense_Mutation SNP G G A TCGA-BJ-A2NA-01A-12D-A19J-08 TCGA-BJ-A2NA-11A-11D-A19J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fb47f70-88d5-4b3e-821e-cee5eb717471 c88a3e4d-4316-4bc3-b2fa-0ac3dd76e558 g.chr19:4154971G>A ENST00000078445.2 + 2 250 c.103G>A c.(103-105)Ggc>Agc p.G35S CREB3L3_ENST00000252587.3_Missense_Mutation_p.G26S|CREB3L3_ENST00000595923.1_Missense_Mutation_p.G35S|CREB3L3_ENST00000602257.1_Missense_Mutation_p.G35S|CREB3L3_ENST00000602147.1_Missense_Mutation_p.G35S NM_001271995.1|NM_001271996.1|NM_032607.1 NP_001258924.1|NP_001258925.1|NP_115996.1 Q68CJ9 CR3L3_HUMAN cAMP responsive element binding protein 3-like 3 35 response to unfolded protein endoplasmic reticulum membrane|integral to membrane|nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|urinary_tract(3) 24 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18) CCGGCAGGACGGCATCCTGAG 0.637000 26 63 0 0 0.007291 0 0 ZSCAN5B 342933 broad.mit.edu 37 19 56701879 56701879 + Missense_Mutation SNP C C T TCGA-BJ-A2NA-01A-12D-A19J-08 TCGA-BJ-A2NA-11A-11D-A19J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fb47f70-88d5-4b3e-821e-cee5eb717471 c88a3e4d-4316-4bc3-b2fa-0ac3dd76e558 g.chr19:56701879C>T ENST00000586855.2 - 5 1118 c.805G>A c.(805-807)Gac>Aac p.D269N ZSCAN5B_ENST00000358992.3_Missense_Mutation_p.D269N A6NJL1 ZSA5B_HUMAN zinc finger and SCAN domain containing 5B 269 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 37 GAAGGTGTGTCAGCATCCACA 0.502000 24 111 0 0 0.016522 0 0 TYMP 1890 broad.mit.edu 37 22 50967746 50967746 + Missense_Mutation SNP C C A TCGA-BJ-A2NA-01A-12D-A19J-08 TCGA-BJ-A2NA-11A-11D-A19J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fb47f70-88d5-4b3e-821e-cee5eb717471 c88a3e4d-4316-4bc3-b2fa-0ac3dd76e558 g.chr22:50967746C>A ENST00000252029.3 - 3 398 c.236G>T c.(235-237)cGa>cTa p.R79L TYMP_ENST00000395678.3_Missense_Mutation_p.R79L|TYMP_ENST00000395680.1_Missense_Mutation_p.R79L|TYMP_ENST00000395681.1_Missense_Mutation_p.R79L NM_001113755.2|NM_001113756.2|NM_001257988.1|NM_001257989.1|NM_001953.4 NP_001107227.1|NP_001107228.1|NP_001244917.1|NP_001244918.1|NP_001944.1 P19971 TYPH_HUMAN thymidine phosphorylase 79 angiogenesis|cell differentiation|chemotaxis|DNA replication|mitochondrial genome maintenance|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage|pyrimidine nucleotide metabolic process cytosol growth factor activity|platelet-derived growth factor receptor binding|pyrimidine-nucleoside phosphorylase activity|thymidine phosphorylase activity large_intestine(1)|lung(2)|ovary(1)|prostate(1) 5 all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247) Capecitabine(DB01101)|Docetaxel(DB01248)|Floxuridine(DB00322)|Fluorouracil(DB00544)|Sulfasalazine(DB00795)|Tamoxifen(DB00675) GCCCCGAAGTCGGATGGCCAT 0.692000 13 26 1.5842e-08 1.70606e-08 0.016723 1 0 MYO9B 4650 broad.mit.edu 37 19 17313022 17313022 + Silent SNP G G A TCGA-BJ-A2NA-01A-12D-A19J-08 TCGA-BJ-A2NA-11A-11D-A19J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fb47f70-88d5-4b3e-821e-cee5eb717471 c88a3e4d-4316-4bc3-b2fa-0ac3dd76e558 g.chr19:17313022G>A ENST00000595618.1 + 28 4898 c.4746G>A c.(4744-4746)caG>caA p.Q1582Q MYO9B_ENST00000594824.1_Silent_p.Q1582Q|MYO9B_ENST00000397274.2_Silent_p.Q1582Q NM_001130065.1|NM_004145.3 NP_001123537.1|NP_004136.2 Q13459 MYO9B_HUMAN myosin IXB 1582 Tail. actin filament-based movement cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4) 39 AGCGTGGCCAGAAGGACACCA 0.562000 5 12 0 0 0.014758 0 0 SLC39A2 29986 broad.mit.edu 37 14 21468323 21468323 + Missense_Mutation SNP C C T TCGA-BJ-A2NA-01A-12D-A19J-08 TCGA-BJ-A2NA-11A-11D-A19J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fb47f70-88d5-4b3e-821e-cee5eb717471 c88a3e4d-4316-4bc3-b2fa-0ac3dd76e558 g.chr14:21468323C>T ENST00000298681.4 + 3 452 c.295C>T c.(295-297)Cat>Tat p.H99Y SLC39A2_ENST00000554422.1_3'UTR NM_014579.3 NP_055394.2 Q9NP94 S39A2_HUMAN solute carrier family 39 (zinc transporter), member 2 99 cytoplasmic membrane-bounded vesicle|integral to plasma membrane zinc ion transmembrane transporter activity breast(2)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(2)|upper_aerodigestive_tract(1) 14 all_cancers(95;0.00267) OV - Ovarian serous cystadenocarcinoma(11;1.34e-10)|Epithelial(56;1.57e-08)|all cancers(55;7.45e-08) GBM - Glioblastoma multiforme(265;0.0187) TGATTCAGCTCATGTAAGTAC 0.463000 7 41 0 0 0.004482 0 0 PPP1R14C 81706 broad.mit.edu 37 6 150464574 150464574 + Silent SNP G G T TCGA-BJ-A2NA-01A-12D-A19J-08 TCGA-BJ-A2NA-11A-11D-A19J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fb47f70-88d5-4b3e-821e-cee5eb717471 c88a3e4d-4316-4bc3-b2fa-0ac3dd76e558 g.chr6:150464574G>T ENST00000361131.4 + 1 363 c.246G>T c.(244-246)cgG>cgT p.R82R NM_030949.2 NP_112211.1 Q8TAE6 PP14C_HUMAN protein phosphatase 1, regulatory (inhibitor) subunit 14C 82 regulation of phosphorylation cytoplasm|membrane endometrium(1)|large_intestine(1)|prostate(1) 3 Ovarian(120;0.0284) BRCA - Breast invasive adenocarcinoma(37;0.215) OV - Ovarian serous cystadenocarcinoma(155;9.14e-12) AGGAGCTTCGGAAGCGGCTGG 0.647000 7 16 0.000157383 0.00016443 0.003080 1 0 OR10Q1 219960 broad.mit.edu 37 11 57995529 57995529 + Silent SNP C C T TCGA-BJ-A2NA-01A-12D-A19J-08 TCGA-BJ-A2NA-11A-11D-A19J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fb47f70-88d5-4b3e-821e-cee5eb717471 c88a3e4d-4316-4bc3-b2fa-0ac3dd76e558 g.chr11:57995529C>T ENST00000316770.2 - 1 861 c.819G>A c.(817-819)gaG>gaA p.E273E NM_001004471.2 NP_001004471.1 Q8NGQ4 O10Q1_HUMAN olfactory receptor, family 10, subfamily Q, member 1 273 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(26)|ovary(2) 35 Breast(21;0.0589) TGTCCTCATCCTCTGAGGTGC 0.572000 30 38 0 0 0.008361 0 0 OXER1 165140 broad.mit.edu 37 2 42991084 42991084 + Missense_Mutation SNP G G C TCGA-BJ-A2NA-01A-12D-A19J-08 TCGA-BJ-A2NA-11A-11D-A19J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fb47f70-88d5-4b3e-821e-cee5eb717471 c88a3e4d-4316-4bc3-b2fa-0ac3dd76e558 g.chr2:42991084G>C ENST00000378661.2 - 1 317 c.236C>G c.(235-237)tCt>tGt p.S79C NM_148962.4 NP_683765.1 Q8TDS5 OXER1_HUMAN oxoeicosanoid (OXE) receptor 1 79 Ser-rich. regulation of cAMP biosynthetic process integral to membrane|plasma membrane 5(S)-hydroxyperoxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding|5-hydroxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding|5-oxo-6E,8Z,11Z,14Z-icosatetraenoic acid binding|G-protein coupled receptor activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1) 10 GGGCCCTCCAGAGGACCCCCC 0.627000 9 20 0 0 0.006214 0 0 CNTRL 11064 broad.mit.edu 37 9 123936008 123936008 + Missense_Mutation SNP G G A TCGA-BJ-A2NA-01A-12D-A19J-08 TCGA-BJ-A2NA-11A-11D-A19J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fb47f70-88d5-4b3e-821e-cee5eb717471 c88a3e4d-4316-4bc3-b2fa-0ac3dd76e558 g.chr9:123936008G>A ENST00000373855.1 + 42 7000 c.6740G>A c.(6739-6741)cGa>cAa p.R2247Q CNTRL_ENST00000238341.5_Missense_Mutation_p.R2247Q|CNTRL_ENST00000373845.2_3'UTR|CNTRL_ENST00000373850.1_Missense_Mutation_p.R1695Q Q7Z7A1 CNTRL_HUMAN centriolin 2247 Sufficient for interaction with HOOK2. cell division|G2/M transition of mitotic cell cycle centrosome|cytosol protein binding haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3) 20 CGGGAAGACCGACTCAAGGTT 0.463000 18 108 0 0 0.006122 0 0 MRS2 57380 broad.mit.edu 37 6 24409748 24409748 + Nonsense_Mutation SNP C C T TCGA-BJ-A2NA-01A-12D-A19J-08 TCGA-BJ-A2NA-11A-11D-A19J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fb47f70-88d5-4b3e-821e-cee5eb717471 c88a3e4d-4316-4bc3-b2fa-0ac3dd76e558 g.chr6:24409748C>T ENST00000378386.3 + 4 454 c.361C>T c.(361-363)Cag>Tag p.Q121* MRS2_ENST00000378353.1_Nonsense_Mutation_p.Q121*|MRS2_ENST00000443868.2_Nonsense_Mutation_p.Q121*|MRS2_ENST00000483634.1_Intron|MRS2_ENST00000543597.1_5'UTR|MRS2_ENST00000535061.1_Intron|MRS2_ENST00000274747.7_Intron NM_020662.2 NP_065713.1 Q9HD23 MRS2_HUMAN MRS2 magnesium transporter 121 ion transport integral to membrane|mitochondrial inner membrane breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)|stomach(1) 12 TTTGAGATTTCAGCATGTAAT 0.303000 5 68 0 0 0.001984 0 0 PIBF1 10464 broad.mit.edu 37 13 73539420 73539420 + Missense_Mutation SNP A A C TCGA-BJ-A2NA-01A-12D-A19J-08 TCGA-BJ-A2NA-11A-11D-A19J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fb47f70-88d5-4b3e-821e-cee5eb717471 c88a3e4d-4316-4bc3-b2fa-0ac3dd76e558 g.chr13:73539420A>C ENST00000326291.6 + 15 2180 c.1842A>C c.(1840-1842)agA>agC p.R614S NM_006346.2 NP_006337.2 Q8WXW3 PIBF1_HUMAN progesterone immunomodulatory binding factor 1 614 DLEHRKDQVTQLSQELDR -> RSGTSKGPSNTAFTRSLTE (in Ref. 3; AAQ67659). centrosome breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 24 Prostate(6;0.00191)|Breast(118;0.0736)|Acute lymphoblastic leukemia(28;0.0865) GBM - Glioblastoma multiforme(99;0.000664) AGCTTGACAGAGCCAATTCGC 0.343000 10 29 0 0 0.013537 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-BJ-A2NA-01A-12D-A19J-08 TCGA-BJ-A2NA-11A-11D-A19J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fb47f70-88d5-4b3e-821e-cee5eb717471 c88a3e4d-4316-4bc3-b2fa-0ac3dd76e558 g.chr7:140453136A>T ENST00000288602.6 - 15 1859 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333.4 NP_004324.2 P15056 BRAF_HUMAN v-raf murine sarcoma viral oncogene homolog B 600 Protein kinase. V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis). activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1) SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) TCGAGATTTCACTGTAGCTAG 0.368000 V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN) 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 18 53 0 0 0.007413 0 0 WHSC1L1 54904 broad.mit.edu 37 8 38205277 38205277 + Missense_Mutation SNP G G A TCGA-BJ-A2NA-01A-12D-A19J-08 TCGA-BJ-A2NA-11A-11D-A19J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fb47f70-88d5-4b3e-821e-cee5eb717471 c88a3e4d-4316-4bc3-b2fa-0ac3dd76e558 g.chr8:38205277G>A ENST00000317025.8 - 2 930 c.413C>T c.(412-414)tCg>tTg p.S138L WHSC1L1_ENST00000527502.1_Missense_Mutation_p.S138L|WHSC1L1_ENST00000433384.2_Missense_Mutation_p.S138L|WHSC1L1_ENST00000316985.3_Missense_Mutation_p.S138L NM_023034.1 NP_075447.1 Q9BZ95 NSD3_HUMAN Wolf-Hirschhorn syndrome candidate 1-like 1 138 cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome histone-lysine N-methyltransferase activity|zinc ion binding NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 24 Colorectal(12;0.000442)|Esophageal squamous(3;0.0725) all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065) Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511) TTGTGGTACCGAAGGAGGAGG 0.418000 T NUP98 AML 23 79 0 0 0.016522 0 0 PNCK 139728 broad.mit.edu 37 X 152937598 152937598 + Silent SNP G G A TCGA-BJ-A2NA-01A-12D-A19J-08 TCGA-BJ-A2NA-11A-11D-A19J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fb47f70-88d5-4b3e-821e-cee5eb717471 c88a3e4d-4316-4bc3-b2fa-0ac3dd76e558 g.chrX:152937598G>A ENST00000393831.2 - 4 692 c.258C>T c.(256-258)ctC>ctT p.L86L PNCK_ENST00000370150.1_Silent_p.L86L|PNCK_ENST00000340888.3_Silent_p.L86L|PNCK_ENST00000447676.2_Silent_p.L169L|PNCK_ENST00000370142.1_Silent_p.L86L|PNCK_ENST00000475172.1_5'UTR|PNCK_ENST00000370145.4_Silent_p.L103L NM_001039582.3 NP_001034671.3 Q6P2M8 KCC1B_HUMAN pregnancy up-regulated nonubiquitous CaM kinase 86 Protein kinase. cytoplasm|nucleus ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity p.L86L(1)|p.L103L(1)|p.L115L(1) breast(2)|lung(3)|skin(1) 6 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) TGGCCAGGTAGAGGTGGGAAG 0.637000 6 22 0 0 0.001984 0 0 RASD2 23551 broad.mit.edu 37 22 35947855 35947855 + Missense_Mutation SNP C C T TCGA-BJ-A2NA-01A-12D-A19J-08 TCGA-BJ-A2NA-11A-11D-A19J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fb47f70-88d5-4b3e-821e-cee5eb717471 c88a3e4d-4316-4bc3-b2fa-0ac3dd76e558 g.chr22:35947855C>T ENST00000216127.4 + 3 1219 c.577C>T c.(577-579)Cca>Tca p.P193S NM_014310.3 NP_055125.2 Q96D21 RHES_HUMAN RASD family, member 2 193 Interaction with GNB1, GNB2 and GNB3. locomotory behavior|positive regulation of protein kinase B signaling cascade|positive regulation of protein sumoylation|regulation of cAMP-mediated signaling intracellular|plasma membrane G-protein beta-subunit binding|GTP binding|GTPase activity endometrium(2)|large_intestine(1)|lung(8)|prostate(1)|skin(1) 13 GGCCAAGCTGCCACACGAGAT 0.612000 3 34 0 0 0.004672 0 0 HLA-A 3105 broad.mit.edu 37 6 29910607 29910607 + Silent SNP G G C rs72555397 TCGA-BJ-A2NA-01A-12D-A19J-08 TCGA-BJ-A2NA-11A-11D-A19J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fb47f70-88d5-4b3e-821e-cee5eb717471 c88a3e4d-4316-4bc3-b2fa-0ac3dd76e558 g.chr6:29910607G>C ENST00000396634.1 + 4 488 c.147G>C c.(145-147)gtG>gtC p.V49V HLA-A_ENST00000376802.2_Silent_p.V49V|HLA-A_ENST00000376806.5_Silent_p.V49V|HLA-A_ENST00000376809.5_Silent_p.V49V P30443 1A01_HUMAN major histocompatibility complex, class I, A 49 Alpha-1. antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway integral to plasma membrane|MHC class I protein complex MHC class I receptor activity p.V49V(2) central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 30 TCATCGCCGTGGGCTACGTGG 0.692000 Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of Multiple Myeloma(9;0.094) 3 29 0 0 0.004672 0 0 CYC1 1537 broad.mit.edu 37 8 145150862 145150862 + Missense_Mutation SNP G G A TCGA-BJ-A2NA-01A-12D-A19J-08 TCGA-BJ-A2NA-11A-11D-A19J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fb47f70-88d5-4b3e-821e-cee5eb717471 c88a3e4d-4316-4bc3-b2fa-0ac3dd76e558 g.chr8:145150862G>A ENST00000318911.4 + 2 329 c.256G>A c.(256-258)Gac>Aac p.D86N NM_001916.3 NP_001907.2 P08574 CY1_HUMAN cytochrome c-1 86 respiratory electron transport chain|transport cell junction|integral to membrane|mitochondrial inner membrane|respiratory chain electron transporter, transferring electrons from CoQH2-cytochrome c reductase complex and cytochrome c oxidase complex activity|heme binding endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(2) 15 all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;8.71e-40)|all cancers(56;3e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) GAGTGCCAGTGACCTGGAGCT 0.672000 OREG0019052 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 6 44 0 0 0.001984 0 0 ZDHHC14 79683 broad.mit.edu 37 6 157803239 157803239 + Silent SNP C C T TCGA-BJ-A2NA-01A-12D-A19J-08 TCGA-BJ-A2NA-11A-11D-A19J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fb47f70-88d5-4b3e-821e-cee5eb717471 c88a3e4d-4316-4bc3-b2fa-0ac3dd76e558 g.chr6:157803239C>T ENST00000359775.5 + 1 1075 c.186C>T c.(184-186)ggC>ggT p.G62G ZDHHC14_ENST00000414563.2_Silent_p.G62G Q8IZN3 ZDH14_HUMAN zinc finger, DHHC-type containing 14 62 integral to membrane acyltransferase activity|zinc ion binding central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|skin(1) 17 Breast(66;0.00586)|Ovarian(120;0.123) OV - Ovarian serous cystadenocarcinoma(65;2.9e-17)|BRCA - Breast invasive adenocarcinoma(81;5.8e-05) GGCAGACGGGCGTCTTCTACC 0.592000 18 36 0 0 0.007413 0 0 RP11-13J8.1 0 broad.mit.edu 37 2 201967217 201967218 + RNA DEL AG AG - TCGA-BJ-A2NA-01A-12D-A19J-08 TCGA-BJ-A2NA-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fb47f70-88d5-4b3e-821e-cee5eb717471 055f269a-df3a-4063-a414-59e6a33cbba2 g.chr2:201967217_201967218delAG ENST00000448256.1 + 0 627_628 aaaaaaaaaaagaaTTTGTTCT 0.460 2 4 --- --- --- --- LINC00969 0 broad.mit.edu 37 3 195400639 195400641 + RNA DEL GTG GTG - rs145880653 TCGA-BJ-A2NA-01A-12D-A19J-08 TCGA-BJ-A2NA-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fb47f70-88d5-4b3e-821e-cee5eb717471 055f269a-df3a-4063-a414-59e6a33cbba2 g.chr3:195400639_195400641delGTG ENST00000445430.1 + 0 1284 AGGTGGGCTTGTGGAGGAATGGG 0.552 2 4 --- --- --- --- RAB11FIP2 22841 broad.mit.edu 37 10 119798740 119798740 + Frame_Shift_Del DEL C C - TCGA-BJ-A2NA-01A-12D-A19J-08 TCGA-BJ-A2NA-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fb47f70-88d5-4b3e-821e-cee5eb717471 055f269a-df3a-4063-a414-59e6a33cbba2 g.chr10:119798740delC ENST00000355624.3 - 3 1447 c.1008delG c.(1006-1008)atfs p.M336fs RP11-354M20.3_ENST00000451610.2_RNA|RAB11FIP2_ENST00000369199.3_Frame_Shift_Del_p.M336fs NM_014904.2 NP_055719.1 Q7L804 RFIP2_HUMAN RAB11 family interacting protein 2 (class I) 336 protein transport plasma membrane|recycling endosome membrane protein homodimerization activity cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(8) 19 Colorectal(252;0.235) all cancers(201;0.0238) AAAATAAATTCATGCTGCTGT 0.343 32 70 --- --- --- --- SIRT2 22933 broad.mit.edu 37 19 39370317 39370317 + Frame_Shift_Del DEL A A - TCGA-BJ-A2NA-01A-12D-A19J-08 TCGA-BJ-A2NA-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fb47f70-88d5-4b3e-821e-cee5eb717471 055f269a-df3a-4063-a414-59e6a33cbba2 g.chr19:39370317delA ENST00000249396.7 - 14 1203 c.902delT c.(901-903)agfs p.M301fs SIRT2_ENST00000358931.5_Intron|SIRT2_ENST00000392081.2_Frame_Shift_Del_p.M264fs NM_012237.3 NP_036369.2 Q8IXJ6 SIRT2_HUMAN sirtuin 2 301 Deacetylase sirtuin-type. cell division|chromatin silencing at rDNA|chromatin silencing at telomere|mitosis|negative regulation of striated muscle tissue development|protein ADP-ribosylation|regulation of exit from mitosis|regulation of phosphorylation|response to redox state chromatin silencing complex|cytoplasm|microtubule histone acetyltransferase binding|histone deacetylase binding|NAD+ binding|NAD-dependent histone deacetylase activity|transcription factor binding|tubulin deacetylase activity|ubiquitin binding|zinc ion binding endometrium(1)|large_intestine(2)|lung(5)|skin(1) 9 all_cancers(60;6.83e-06)|Ovarian(47;0.0454) Lung(45;0.00125)|LUSC - Lung squamous cell carcinoma(53;0.00191) TCCGAGGCCCATAATCATCCC 0.652 2 4 --- --- --- --- AC007040.8 0 broad.mit.edu 37 2 71283122 71283123 + RNA INS - - T rs35074164 TCGA-BJ-A2NA-01A-12D-A19J-08 TCGA-BJ-A2NA-11A-11D-A19J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fb47f70-88d5-4b3e-821e-cee5eb717471 c88a3e4d-4316-4bc3-b2fa-0ac3dd76e558 g.chr2:71283122_71283123insT ENST00000434990.1 - 0 61 GGCACCACCCCCAGGAGTGGTG 0.530 4 4 --- --- --- --- RAB11FIP2 22841 broad.mit.edu 37 10 119798740 119798740 + Frame_Shift_Del DEL C C - TCGA-BJ-A2NA-01A-12D-A19J-08 TCGA-BJ-A2NA-11A-11D-A19J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fb47f70-88d5-4b3e-821e-cee5eb717471 c88a3e4d-4316-4bc3-b2fa-0ac3dd76e558 g.chr10:119798740delC ENST00000355624.3 - 3 1447 c.1008delG c.(1006-1008)atfs p.M336fs RAB11FIP2_ENST00000369199.3_Frame_Shift_Del_p.M336fs|RP11-354M20.3_ENST00000451610.2_RNA NM_014904.2 NP_055719.1 Q7L804 RFIP2_HUMAN RAB11 family interacting protein 2 (class I) 336 protein transport plasma membrane|recycling endosome membrane protein homodimerization activity cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(8) 19 Colorectal(252;0.235) all cancers(201;0.0238) AAAATAAATTCATGCTGCTGT 0.343 32 70 --- --- --- --- EMG1 10436 broad.mit.edu 37 12 7080210 7080211 + RNA INS - - G rs141646579 by1000genomes TCGA-BJ-A2NA-01A-12D-A19J-08 TCGA-BJ-A2NA-11A-11D-A19J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fb47f70-88d5-4b3e-821e-cee5eb717471 c88a3e4d-4316-4bc3-b2fa-0ac3dd76e558 g.chr12:7080210_7080211insG ENST00000546220.1 + 0 155_156 U47924.28_ENST00000261406.6_lincRNA|U47924.19_ENST00000564245.1_RNA Q92979 NEP1_HUMAN EMG1 N1-specific pseudouridine methyltransferase ribosomal small subunit biogenesis cytoplasm|nucleolus rRNA (pseudouridine) methyltransferase activity|rRNA binding CGGAGGCCGTAGTTTATTGTGG 0.569 8 9 --- --- --- --- RP11-493L12.5 0 broad.mit.edu 37 12 47761313 47761314 + RNA INS - - T rs57593482 TCGA-BJ-A2NA-01A-12D-A19J-08 TCGA-BJ-A2NA-11A-11D-A19J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fb47f70-88d5-4b3e-821e-cee5eb717471 c88a3e4d-4316-4bc3-b2fa-0ac3dd76e558 g.chr12:47761313_47761314insT ENST00000550019.1 + 0 262 ttcgctctctattttttttttt 0.406 5 9 --- --- --- --- SIRT2 22933 broad.mit.edu 37 19 39370317 39370317 + Frame_Shift_Del DEL A A - TCGA-BJ-A2NA-01A-12D-A19J-08 TCGA-BJ-A2NA-11A-11D-A19J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fb47f70-88d5-4b3e-821e-cee5eb717471 c88a3e4d-4316-4bc3-b2fa-0ac3dd76e558 g.chr19:39370317delA ENST00000249396.7 - 14 1203 c.902delT c.(901-903)agfs p.M301fs SIRT2_ENST00000392081.2_Frame_Shift_Del_p.M264fs|SIRT2_ENST00000358931.5_Intron NM_012237.3 NP_036369.2 Q8IXJ6 SIRT2_HUMAN sirtuin 2 301 Deacetylase sirtuin-type. cell division|chromatin silencing at rDNA|chromatin silencing at telomere|mitosis|negative regulation of striated muscle tissue development|protein ADP-ribosylation|regulation of exit from mitosis|regulation of phosphorylation|response to redox state chromatin silencing complex|cytoplasm|microtubule histone acetyltransferase binding|histone deacetylase binding|NAD+ binding|NAD-dependent histone deacetylase activity|transcription factor binding|tubulin deacetylase activity|ubiquitin binding|zinc ion binding endometrium(1)|large_intestine(2)|lung(5)|skin(1) 9 all_cancers(60;6.83e-06)|Ovarian(47;0.0454) Lung(45;0.00125)|LUSC - Lung squamous cell carcinoma(53;0.00191) TCCGAGGCCCATAATCATCCC 0.652 2 4 --- --- --- ---