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 FAM48A 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 uc001uwk.3 - 3 293 c.45C>T c.(43-45)gtC>gtT p.V15V FAM48A_uc010abt.3_Silent_p.V15V|FAM48A_uc001uwg.3_Silent_p.V15V|FAM48A_uc001uwh.3_Silent_p.V15V|FAM48A_uc001uwi.3_Silent_p.V15V|FAM48A_uc001uwj.3_Silent_p.V15V|FAM48A_uc010tes.1_Silent_p.V3V|FAM48A_uc001uwl.1_Silent_p.V15V NM_017569 NP_060039 Q8NEM7 FA48A_HUMAN Homo sapiens family with sequence similarity 48, member A (FAM48A), transcript variant 2, mRNA. 15 autophagy|gastrulation SAGA-type complex protein binding cervix(1)|endometrium(2)|large_intestine(6)|lung(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 19 Lung NSC(96;2.09e-06)|Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.0959) all cancers(112;6.06e-07)|Epithelial(112;1.87e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00794)|BRCA - Breast invasive adenocarcinoma(63;0.0128)|GBM - Glioblastoma multiforme(144;0.0477) CACTTTCAATGACATACTAAA 0.318000 6 52 0 0 1 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 uc001byx.3 - 14 2604 c.2346G>A c.(2344-2346)gtG>gtA p.V782V KIAA0319L_uc001byw.3_Silent_p.V224V|KIAA0319L_uc010ohv.1_Silent_p.V424V NM_024874 NP_079150 Q8IZA0 K319L_HUMAN Homo sapiens KIAA0319-like (KIAA0319L), mRNA. 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 1 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 uc003grr.3 + 12 2144 c.2063C>T c.(2062-2064)aCg>aTg p.T688M SLC34A2_uc003grs.3_Missense_Mutation_p.T687M|SLC34A2_uc010iev.3_Missense_Mutation_p.T687M NM_006424 NP_006415 O95436 NPT2B_HUMAN Homo sapiens solute carrier family 34 (sodium phosphate), member 2 (SLC34A2), transcript variant 1, mRNA. 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 1 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 uc002pmr.3 + 23 3296 c.2964C>T c.(2962-2964)aaC>aaT p.N988N PPFIA3_uc010yai.2_Non-coding_Transcript|PPFIA3_uc002pms.3_Silent_p.N847N|PPFIA3_uc002pmt.3_Silent_p.N127N|PPFIA3_uc002pmu.1_Silent_p.N37N NM_003660 NP_003651 O75145 LIPA3_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3 (PPFIA3), mRNA. 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 1 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-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 uc001wtu.3 - 1 261 c.165G>C c.(163-165)aaG>aaC p.K55N SFTA3_uc001wts.3_Intron|NKX2-1_uc001wtt.3_Missense_Mutation_p.K25N|NKX2-1_uc001wtv.3_Missense_Mutation_p.K25N|BX161496_uc001wtw.1_5'Flank NM_001079668 NP_001073136 P43699 NKX21_HUMAN Homo sapiens NK2 homeobox 1 (NKX2-1), transcript variant 1, mRNA. 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 1 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 uc002cuw.1 + 0 68 c.16G>C c.(16-18)Gat>Cat p.D6H NM_012368 NP_036500 O95371 OR2C1_HUMAN Homo sapiens olfactory receptor, family 2, subfamily C, member 1 (OR2C1), mRNA. 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 1 0 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 uc002uel.3 - 4 517 c.386A>G c.(385-387)aAa>aGa p.K129R NM_020675 NP_065726 Q9HBM1 SPC25_HUMAN Homo sapiens SPC25, NDC80 kinetochore complex component, homolog (S. cerevisiae) (SPC25), mRNA. 129 Interaction with the N-terminus of SPBC24. cell division|chromosome segregation|mitotic prometaphase|mitotic spindle organization Ndc80 complex|condensed chromosome kinetochore|cytosol|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 1 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 uc002gfa.3 - 3 626 c.399C>G c.(397-399)ctC>ctG p.L133L DVL2_uc002gez.1_5'Flank|DVL2_uc010vtr.1_5'Flank|DVL2_uc010clz.1_5'Flank|PHF23_uc010vtt.2_Silent_p.L66L|PHF23_uc010cma.3_Silent_p.L3L NM_024297 NP_077273 Q9BUL5 PHF23_HUMAN Homo sapiens PHD finger protein 23 (PHF23), mRNA. 133 zinc ion binding breast(4)|kidney(2)|large_intestine(6)|lung(3) 15 GAGAGTCCTTGAGCTTCATCT 0.602000 11 65 0 0 1 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 uc002rss.3 - 0 230 c.148C>T c.(148-150)Ccc>Tcc p.P50S NM_148962 NP_683765 Q8TDS5 OXER1_HUMAN Homo sapiens oxoeicosanoid (OXE) receptor 1 (OXER1), mRNA. 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 1 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 uc009yht.2 - 6 717 c.527C>T c.(526-528)cCt>cTt p.P176L IGSF22_uc001mpa.2_Non-coding_Transcript NM_173588 NP_775859 Q8N9C0 IGS22_HUMAN Homo sapiens immunoglobulin superfamily, member 22 (IGSF22), mRNA. 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 1 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 uc002bnj.2 + 6 1000 c.82G>A c.(82-84)Gtg>Atg p.V28M ABHD2_uc010ups.1_Non-coding_Transcript|ABHD2_uc002bnk.2_Missense_Mutation_p.V28M NM_007011 NP_690888 P08910 ABHD2_HUMAN Homo sapiens abhydrolase domain containing 2 (ABHD2), transcript variant 1, mRNA. 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 1 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 uc002gfa.3 - 3 843 c.616C>G c.(616-618)Cct>Gct p.P206A DVL2_uc002gez.1_5'Flank|DVL2_uc010vtr.1_5'Flank|DVL2_uc010clz.1_5'Flank|PHF23_uc010vtt.2_Missense_Mutation_p.P139A|PHF23_uc010cma.3_Missense_Mutation_p.P76A NM_024297 NP_077273 Q9BUL5 PHF23_HUMAN Homo sapiens PHD finger protein 23 (PHF23), mRNA. 206 zinc ion binding breast(4)|kidney(2)|large_intestine(6)|lung(3) 15 CCATCCCCAGGAGTTGGCCGA 0.582000 17 76 0 0 1 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 uc001rfo.4 - 0 581 c.99T>C c.(97-99)agT>agC p.S33S ST8SIA1_uc009zix.3_5'UTR NM_003034 NP_003025 Q92185 SIA8A_HUMAN Homo sapiens ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 1 (ST8SIA1), mRNA. 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 1 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 uc001szg.2 + 2 726 c.591T>C c.(589-591)gaT>gaC p.D197D NM_005593 NP_005584 P13349 MYF5_HUMAN Homo sapiens myogenic factor 5 (MYF5), mRNA. 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 1 0 0 TDGF1P3 6998 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 uc004eos.1 + 0 c.906G>A Homo sapiens teratocarcinoma-derived growth factor 1 pseudogene 3 (TDGF1P3), non-coding RNA. ATTAGTTGCCGGGCTGGGCCA 0.522000 11 31 0 0 1 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 uc003pnn.1 - 63 10790 c.10674G>A c.(10672-10674)agG>agA p.R3558R NM_014611 NP_055426 Q9NU22 MDN1_HUMAN Homo sapiens MDN1, midasin homolog (yeast) (MDN1), mRNA. 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 1 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 uc002mrg.1 + 1 229 c.192C>A c.(190-192)atC>atA p.I64I NM_175871 NP_787067 Q6NVH7 CS039_HUMAN Homo sapiens SWIM-type zinc finger 7 associated protein 1 (SWSAP1), mRNA. 64 TCTAGAAGATCCGCTTCCAGT 0.587000 80 134 0 0 1 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 uc002rss.3 - 0 265 c.183C>T c.(181-183)ttC>ttT p.F61F NM_148962 NP_683765 Q8TDS5 OXER1_HUMAN Homo sapiens oxoeicosanoid (OXE) receptor 1 (OXER1), mRNA. 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 1 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 uc002gjy.1 - 12 1955 c.1694G>A c.(1693-1695)cGa>cAa p.R565Q NM_001139 NP_001130 O75342 LX12B_HUMAN Homo sapiens arachidonate 12-lipoxygenase, 12R type (ALOX12B), mRNA. 565 Lipoxygenase. epidermis development|leukotriene biosynthetic process arachidonate 12-lipoxygenase activity|iron ion binding|lipoxygenase activity p.R565R(1) 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 1 0 0 LOC100131496 100131496 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 uc010zyb.2 + 0 569 c.450A>G c.(448-450)ggA>ggG p.G150G ZMYND8_uc010ghr.1_Intron|ZMYND8_uc002xst.1_Intron|ZMYND8_uc002xsu.1_Intron|ZMYND8_uc002xsv.1_Intron|ZMYND8_uc002xsw.1_Intron|ZMYND8_uc002xsx.1_Intron|ZMYND8_uc002xsy.1_Intron|ZMYND8_uc002xsz.1_Intron|ZMYND8_uc002xta.1_Intron|ZMYND8_uc010zxy.1_Intron|ZMYND8_uc002xtb.1_Intron|ZMYND8_uc002xss.2_Intron|ZMYND8_uc010zxz.1_Intron|ZMYND8_uc002xtc.1_Intron|ZMYND8_uc002xtd.1_Intron|ZMYND8_uc002xte.1_Intron|ZMYND8_uc010zya.1_Intron|ZMYND8_uc002xtf.1_Intron|ZMYND8_uc002xtg.3_5'Flank|ZMYND8_uc010ghs.2_Intron|ZMYND8_uc002xth.3_Intron Homo sapiens uncharacterized LOC100131496 (LOC100131496), non-coding RNA. TCCCAGGGGGAGGAGGAAGAA 0.592000 2 7 0 0 1 0 0 TAF7L 54457 broad.mit.edu 37 X 100547854 100547854 + 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:100547854G>A uc004ehb.3 - 0 206 c.180C>T c.(178-180)gaC>gaT p.D60D TAF7L_uc004ehc.2_5'Flank NM_024885 NP_001161946 Q5H9L4 TAF7L_HUMAN Homo sapiens TAF7-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 50kDa (TAF7L), transcript variant 1, mRNA. 60 cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription initiation from RNA polymerase II promoter cytoplasm|transcription factor TFIID complex binding p.A59A(1) 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 1 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 uc002fde.2 - 5 1108 c.1032G>C c.(1030-1032)caG>caC p.Q344H FA2H_uc002fdd.2_Missense_Mutation_p.Q117H|FA2H_uc010vmy.2_Non-coding_Transcript NM_024306 NP_077282 Q7L5A8 FA2H_HUMAN Homo sapiens fatty acid 2-hydroxylase (FA2H), mRNA. 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 1 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 uc010ygh.2 - 3 805 c.805G>A c.(805-807)Gac>Aac p.D269N NM_001080456 NP_001073925 A6NJL1 ZSA5B_HUMAN Homo sapiens zinc finger and SCAN domain containing 5B (ZSCAN5B), mRNA. 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 1 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 uc010tpc.2 + 2 555 c.539C>T c.(538-540)gCa>gTa p.A180V KHNYN_uc001wph.4_Missense_Mutation_p.A139V|KHNYN_uc010alw.3_Missense_Mutation_p.A139V|CBLN3_uc001wpg.4_5'Flank NM_015299 NP_056114 O15037 KHNYN_HUMAN Homo sapiens KH and NYN domain containing (KHNYN), mRNA. 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 1 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 uc021uqk.1 - 17 2092 c.2050G>A c.(2050-2052)Gcc>Acc p.A684T NM_001080421 NP_001073890 Q9UPW8 UN13A_HUMAN Homo sapiens unc-13 homolog A (C. elegans) (UNC13A), mRNA. 685 C2 2. 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 1 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 uc001xbx.2 - 5 776 c.740C>T c.(739-741)tCa>tTa p.S247L FBXO34_uc001xbv.3_Intron|ATG14_uc001xbw.2_Missense_Mutation_p.S134L NM_014924 NP_055739 Q6ZNE5 BAKOR_HUMAN Homo sapiens ATG14 autophagy related 14 homolog (S. cerevisiae) (ATG14), mRNA. 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 1 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 uc003yjr.3 - 1 250 c.99C>T c.(97-99)ttC>ttT p.F33F NM_152628 NP_689841 Q8N9S9 SNX31_HUMAN Homo sapiens sorting nexin 31 (SNX31), mRNA. 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 1 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 uc001zqo.2 - 12 1961 c.1522G>A c.(1522-1524)Gat>Aat p.D508N TTBK2_uc010bcy.2_Missense_Mutation_p.D439N NM_173500 NP_775771 Q6IQ55 TTBK2_HUMAN Homo sapiens tau tubulin kinase 2 (TTBK2), mRNA. 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 1 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 uc002lzl.3 + 1 219 c.103G>A c.(103-105)Ggc>Agc p.G35S CREB3L3_uc002lzm.3_Missense_Mutation_p.G26S|CREB3L3_uc010xib.2_Missense_Mutation_p.G26S|CREB3L3_uc010xic.2_Missense_Mutation_p.G26S NM_032607 NP_115996 Q68CJ9 CR3L3_HUMAN Homo sapiens cAMP responsive element binding protein 3-like 3 (CREB3L3), mRNA. 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 1 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 uc003bme.4 - 2 428 c.236G>T c.(235-237)cGa>cTa p.R79L SCO2_uc021wsa.1_5'Flank|TYMP_uc003bmb.4_Missense_Mutation_p.R79L|TYMP_uc003bmc.4_Missense_Mutation_p.R79L|TYMP_uc010hbd.3_Missense_Mutation_p.R79L|TYMP_uc003bmd.4_Missense_Mutation_p.R79L|TYMP_uc011arz.1_Missense_Mutation_p.R79L NM_001953 NP_001944 P19971 TYPH_HUMAN Homo sapiens thymidine phosphorylase (TYMP), transcript variant 2, mRNA. 79 DNA replication|angiogenesis|cell differentiation|chemotaxis|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 0 0 1 0 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 uc010eak.3 + 27 4898 c.4746G>A c.(4744-4746)caG>caA p.Q1582Q MYO9B_uc002nfi.3_Silent_p.Q1582Q|MYO9B_uc002nfj.1_Silent_p.Q1582Q|MYO9B_uc002nfl.1_Silent_p.Q131Q NM_004145 NP_004136 Q13459 MYO9B_HUMAN Homo sapiens myosin IXB (MYO9B), transcript variant 1, mRNA. 1582 Tail. actin filament-based movement cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm ADP binding|ATP binding|ATPase activity|Rho GTPase activator activity|actin binding|calmodulin binding|metal ion binding|microfilament motor 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 1 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 uc001vyr.3 + 2 487 c.295C>T c.(295-297)Cat>Tat p.H99Y SLC39A2_uc001vys.3_5'UTR NM_014579 NP_055394 Q9NP94 S39A2_HUMAN Homo sapiens solute carrier family 39 (zinc transporter), member 2 (SLC39A2), transcript variant 1, mRNA. 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 1 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 uc003qnt.3 + 0 387 c.246G>T c.(244-246)cgG>cgT p.R82R NM_030949 NP_112211 Q8TAE6 PP14C_HUMAN Homo sapiens protein phosphatase 1, regulatory (inhibitor) subunit 14C (PPP1R14C), mRNA. 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 0 1 0 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 uc010rkd.2 - 0 862 c.819G>A c.(817-819)gaG>gaA p.E273E NM_001004471 NP_001004471 Q8NGQ4 O10Q1_HUMAN Homo sapiens olfactory receptor, family 10, subfamily Q, member 1 (OR10Q1), mRNA. 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 1 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 uc002rss.3 - 0 318 c.236C>G c.(235-237)tCt>tGt p.S79C NM_148962 NP_683765 Q8TDS5 OXER1_HUMAN Homo sapiens oxoeicosanoid (OXE) receptor 1 (OXER1), mRNA. 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 p.S78fs*61(1) 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 1 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 uc004bkx.1 + 39 6771 c.6740G>A c.(6739-6741)cGa>cAa p.R2247Q CNTRL_uc004blb.1_Missense_Mutation_p.R916Q|CNTRL_uc010mvp.1_Missense_Mutation_p.R197Q NM_007018 NP_008949 Q7Z7A1 CNTRL_HUMAN Homo sapiens centriolin (CNTRL), mRNA. 2247 Sufficient for interaction with HOOK2. G2/M transition of mitotic cell cycle|cell division 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 1 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 uc011djl.2 + 3 483 c.361C>T c.(361-363)Cag>Tag p.Q121* MRS2_uc003nea.3_Nonsense_Mutation_p.Q121*|MRS2_uc003neb.3_Nonsense_Mutation_p.Q121*|MRS2_uc011djm.2_Non-coding_Transcript|MRS2_uc011djn.2_Intron NM_020662 NP_065713 Q9HD23 MRS2_HUMAN Homo sapiens MRS2 magnesium homeostasis factor homolog (S. cerevisiae) (MRS2), mRNA. 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 1 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 uc001vjc.3 + 14 2147 c.1842A>C c.(1840-1842)agA>agC p.R614S PIBF1_uc001vjb.3_Missense_Mutation_p.R614S|PIBF1_uc010aep.3_Missense_Mutation_p.R73S NM_006346 NP_006337 Q8WXW3 PIBF1_HUMAN Homo sapiens progesterone immunomodulatory binding factor 1 (PIBF1), mRNA. 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 1 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 uc003vwc.4 - 14 1860 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333 NP_004324 P15056 BRAF_HUMAN Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA. 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(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(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 1 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 uc003xli.3 - 1 931 c.413C>T c.(412-414)tCg>tTg p.S138L WHSC1L1_uc011lbm.2_Missense_Mutation_p.S138L|WHSC1L1_uc010lwe.3_Missense_Mutation_p.S138L|WHSC1L1_uc003xlj.3_Missense_Mutation_p.S138L NM_023034 NP_075447 Q9BZ95 NSD3_HUMAN Homo sapiens Wolf-Hirschhorn syndrome candidate 1-like 1 (WHSC1L1), transcript variant long, mRNA. 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 1 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 uc011myu.2 - 3 693 c.507C>T c.(505-507)ctC>ctT p.L169L PNCK_uc011myt.2_Silent_p.L103L|PNCK_uc004fhz.4_5'UTR|PNCK_uc010nuh.2_Silent_p.L169L|PNCK_uc011myv.2_Silent_p.L113L|PNCK_uc011myw.2_Silent_p.L113L NM_001039582 NP_001034671 Q6P2M8 KCC1B_HUMAN Homo sapiens pregnancy up-regulated non-ubiquitously expressed CaM kinase (PNCK), transcript variant 1, mRNA. 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 1 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 uc003anx.3 + 2 782 c.577C>T c.(577-579)Cca>Tca p.P193S RASD2_uc003any.3_Missense_Mutation_p.P193S NM_014310 NP_055125 Q96D21 RHES_HUMAN Homo sapiens RASD family, member 2 (RASD2), mRNA. 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 1 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 uc003qqt.3 + 0 683 c.186C>T c.(184-186)ggC>ggT p.G62G ZDHHC14_uc003qqs.3_Silent_p.G62G NM_024630 NP_078906 Q8IZN3 ZDH14_HUMAN Homo sapiens zinc finger, DHHC-type containing 14 (ZDHHC14), transcript variant 1, mRNA. 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 1 0 0 FAM48A 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 uc001uwk.3 - 3 293 c.45C>T c.(43-45)gtC>gtT p.V15V FAM48A_uc010abt.3_Silent_p.V15V|FAM48A_uc001uwg.3_Silent_p.V15V|FAM48A_uc001uwh.3_Silent_p.V15V|FAM48A_uc001uwi.3_Silent_p.V15V|FAM48A_uc001uwj.3_Silent_p.V15V|FAM48A_uc010tes.1_Silent_p.V3V|FAM48A_uc001uwl.1_Silent_p.V15V NM_017569 NP_060039 Q8NEM7 FA48A_HUMAN Homo sapiens family with sequence similarity 48, member A (FAM48A), transcript variant 2, mRNA. 15 autophagy|gastrulation SAGA-type complex protein binding cervix(1)|endometrium(2)|large_intestine(6)|lung(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 19 Lung NSC(96;2.09e-06)|Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.0959) all cancers(112;6.06e-07)|Epithelial(112;1.87e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00794)|BRCA - Breast invasive adenocarcinoma(63;0.0128)|GBM - Glioblastoma multiforme(144;0.0477) CACTTTCAATGACATACTAAA 0.318000 6 52 0 0 1 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-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 uc001byx.3 - 14 2604 c.2346G>A c.(2344-2346)gtG>gtA p.V782V KIAA0319L_uc001byw.3_Silent_p.V224V|KIAA0319L_uc010ohv.1_Silent_p.V424V NM_024874 NP_079150 Q8IZA0 K319L_HUMAN Homo sapiens KIAA0319-like (KIAA0319L), mRNA. 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 1 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 uc003grr.3 + 12 2144 c.2063C>T c.(2062-2064)aCg>aTg p.T688M SLC34A2_uc003grs.3_Missense_Mutation_p.T687M|SLC34A2_uc010iev.3_Missense_Mutation_p.T687M NM_006424 NP_006415 O95436 NPT2B_HUMAN Homo sapiens solute carrier family 34 (sodium phosphate), member 2 (SLC34A2), transcript variant 1, mRNA. 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 1 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 uc002pmr.3 + 23 3296 c.2964C>T c.(2962-2964)aaC>aaT p.N988N PPFIA3_uc010yai.2_Non-coding_Transcript|PPFIA3_uc002pms.3_Silent_p.N847N|PPFIA3_uc002pmt.3_Silent_p.N127N|PPFIA3_uc002pmu.1_Silent_p.N37N NM_003660 NP_003651 O75145 LIPA3_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3 (PPFIA3), mRNA. 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 1 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 uc001wtu.3 - 1 261 c.165G>C c.(163-165)aaG>aaC p.K55N SFTA3_uc001wts.3_Intron|NKX2-1_uc001wtt.3_Missense_Mutation_p.K25N|NKX2-1_uc001wtv.3_Missense_Mutation_p.K25N|BX161496_uc001wtw.1_5'Flank NM_001079668 NP_001073136 P43699 NKX21_HUMAN Homo sapiens NK2 homeobox 1 (NKX2-1), transcript variant 1, mRNA. 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 1 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 uc002cuw.1 + 0 68 c.16G>C c.(16-18)Gat>Cat p.D6H NM_012368 NP_036500 O95371 OR2C1_HUMAN Homo sapiens olfactory receptor, family 2, subfamily C, member 1 (OR2C1), mRNA. 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 1 0 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 uc002uel.3 - 4 517 c.386A>G c.(385-387)aAa>aGa p.K129R NM_020675 NP_065726 Q9HBM1 SPC25_HUMAN Homo sapiens SPC25, NDC80 kinetochore complex component, homolog (S. cerevisiae) (SPC25), mRNA. 129 Interaction with the N-terminus of SPBC24. cell division|chromosome segregation|mitotic prometaphase|mitotic spindle organization Ndc80 complex|condensed chromosome kinetochore|cytosol|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 1 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 uc002gfa.3 - 3 626 c.399C>G c.(397-399)ctC>ctG p.L133L DVL2_uc002gez.1_5'Flank|DVL2_uc010vtr.1_5'Flank|DVL2_uc010clz.1_5'Flank|PHF23_uc010vtt.2_Silent_p.L66L|PHF23_uc010cma.3_Silent_p.L3L NM_024297 NP_077273 Q9BUL5 PHF23_HUMAN Homo sapiens PHD finger protein 23 (PHF23), mRNA. 133 zinc ion binding breast(4)|kidney(2)|large_intestine(6)|lung(3) 15 GAGAGTCCTTGAGCTTCATCT 0.602000 11 65 0 0 1 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 uc002rss.3 - 0 230 c.148C>T c.(148-150)Ccc>Tcc p.P50S NM_148962 NP_683765 Q8TDS5 OXER1_HUMAN Homo sapiens oxoeicosanoid (OXE) receptor 1 (OXER1), mRNA. 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 1 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 uc009yht.2 - 6 717 c.527C>T c.(526-528)cCt>cTt p.P176L IGSF22_uc001mpa.2_Non-coding_Transcript NM_173588 NP_775859 Q8N9C0 IGS22_HUMAN Homo sapiens immunoglobulin superfamily, member 22 (IGSF22), mRNA. 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 1 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 uc002bnj.2 + 6 1000 c.82G>A c.(82-84)Gtg>Atg p.V28M ABHD2_uc010ups.1_Non-coding_Transcript|ABHD2_uc002bnk.2_Missense_Mutation_p.V28M NM_007011 NP_690888 P08910 ABHD2_HUMAN Homo sapiens abhydrolase domain containing 2 (ABHD2), transcript variant 1, mRNA. 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 1 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 uc002gfa.3 - 3 843 c.616C>G c.(616-618)Cct>Gct p.P206A DVL2_uc002gez.1_5'Flank|DVL2_uc010vtr.1_5'Flank|DVL2_uc010clz.1_5'Flank|PHF23_uc010vtt.2_Missense_Mutation_p.P139A|PHF23_uc010cma.3_Missense_Mutation_p.P76A NM_024297 NP_077273 Q9BUL5 PHF23_HUMAN Homo sapiens PHD finger protein 23 (PHF23), mRNA. 206 zinc ion binding breast(4)|kidney(2)|large_intestine(6)|lung(3) 15 CCATCCCCAGGAGTTGGCCGA 0.582000 17 76 0 0 1 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 uc001rfo.4 - 0 581 c.99T>C c.(97-99)agT>agC p.S33S ST8SIA1_uc009zix.3_5'UTR NM_003034 NP_003025 Q92185 SIA8A_HUMAN Homo sapiens ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 1 (ST8SIA1), mRNA. 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 1 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 uc001szg.2 + 2 726 c.591T>C c.(589-591)gaT>gaC p.D197D NM_005593 NP_005584 P13349 MYF5_HUMAN Homo sapiens myogenic factor 5 (MYF5), mRNA. 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 1 0 0 TDGF1P3 6998 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 uc004eos.1 + 0 c.906G>A Homo sapiens teratocarcinoma-derived growth factor 1 pseudogene 3 (TDGF1P3), non-coding RNA. ATTAGTTGCCGGGCTGGGCCA 0.522000 11 31 0 0 1 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 uc003pnn.1 - 63 10790 c.10674G>A c.(10672-10674)agG>agA p.R3558R NM_014611 NP_055426 Q9NU22 MDN1_HUMAN Homo sapiens MDN1, midasin homolog (yeast) (MDN1), mRNA. 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 1 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 uc002mrg.1 + 1 229 c.192C>A c.(190-192)atC>atA p.I64I NM_175871 NP_787067 Q6NVH7 CS039_HUMAN Homo sapiens SWIM-type zinc finger 7 associated protein 1 (SWSAP1), mRNA. 64 TCTAGAAGATCCGCTTCCAGT 0.587000 80 134 0 0 1 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 uc002rss.3 - 0 265 c.183C>T c.(181-183)ttC>ttT p.F61F NM_148962 NP_683765 Q8TDS5 OXER1_HUMAN Homo sapiens oxoeicosanoid (OXE) receptor 1 (OXER1), mRNA. 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 1 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 uc002gjy.1 - 12 1955 c.1694G>A c.(1693-1695)cGa>cAa p.R565Q NM_001139 NP_001130 O75342 LX12B_HUMAN Homo sapiens arachidonate 12-lipoxygenase, 12R type (ALOX12B), mRNA. 565 Lipoxygenase. epidermis development|leukotriene biosynthetic process arachidonate 12-lipoxygenase activity|iron ion binding|lipoxygenase activity p.R565R(1) 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 1 0 0 LOC100131496 100131496 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 uc010zyb.2 + 0 569 c.450A>G c.(448-450)ggA>ggG p.G150G ZMYND8_uc010ghr.1_Intron|ZMYND8_uc002xst.1_Intron|ZMYND8_uc002xsu.1_Intron|ZMYND8_uc002xsv.1_Intron|ZMYND8_uc002xsw.1_Intron|ZMYND8_uc002xsx.1_Intron|ZMYND8_uc002xsy.1_Intron|ZMYND8_uc002xsz.1_Intron|ZMYND8_uc002xta.1_Intron|ZMYND8_uc010zxy.1_Intron|ZMYND8_uc002xtb.1_Intron|ZMYND8_uc002xss.2_Intron|ZMYND8_uc010zxz.1_Intron|ZMYND8_uc002xtc.1_Intron|ZMYND8_uc002xtd.1_Intron|ZMYND8_uc002xte.1_Intron|ZMYND8_uc010zya.1_Intron|ZMYND8_uc002xtf.1_Intron|ZMYND8_uc002xtg.3_5'Flank|ZMYND8_uc010ghs.2_Intron|ZMYND8_uc002xth.3_Intron Homo sapiens uncharacterized LOC100131496 (LOC100131496), non-coding RNA. TCCCAGGGGGAGGAGGAAGAA 0.592000 2 7 0 0 1 0 0 TAF7L 54457 broad.mit.edu 37 X 100547854 100547854 + 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:100547854G>A uc004ehb.3 - 0 206 c.180C>T c.(178-180)gaC>gaT p.D60D TAF7L_uc004ehc.2_5'Flank NM_024885 NP_001161946 Q5H9L4 TAF7L_HUMAN Homo sapiens TAF7-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 50kDa (TAF7L), transcript variant 1, mRNA. 60 cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription initiation from RNA polymerase II promoter cytoplasm|transcription factor TFIID complex binding p.A59A(1) 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 1 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 uc002fde.2 - 5 1108 c.1032G>C c.(1030-1032)caG>caC p.Q344H FA2H_uc002fdd.2_Missense_Mutation_p.Q117H|FA2H_uc010vmy.2_Non-coding_Transcript NM_024306 NP_077282 Q7L5A8 FA2H_HUMAN Homo sapiens fatty acid 2-hydroxylase (FA2H), mRNA. 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 1 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 uc010ygh.2 - 3 805 c.805G>A c.(805-807)Gac>Aac p.D269N NM_001080456 NP_001073925 A6NJL1 ZSA5B_HUMAN Homo sapiens zinc finger and SCAN domain containing 5B (ZSCAN5B), mRNA. 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 1 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 uc010tpc.2 + 2 555 c.539C>T c.(538-540)gCa>gTa p.A180V KHNYN_uc001wph.4_Missense_Mutation_p.A139V|KHNYN_uc010alw.3_Missense_Mutation_p.A139V|CBLN3_uc001wpg.4_5'Flank NM_015299 NP_056114 O15037 KHNYN_HUMAN Homo sapiens KH and NYN domain containing (KHNYN), mRNA. 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 1 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 uc021uqk.1 - 17 2092 c.2050G>A c.(2050-2052)Gcc>Acc p.A684T NM_001080421 NP_001073890 Q9UPW8 UN13A_HUMAN Homo sapiens unc-13 homolog A (C. elegans) (UNC13A), mRNA. 685 C2 2. 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 1 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 uc001xbx.2 - 5 776 c.740C>T c.(739-741)tCa>tTa p.S247L FBXO34_uc001xbv.3_Intron|ATG14_uc001xbw.2_Missense_Mutation_p.S134L NM_014924 NP_055739 Q6ZNE5 BAKOR_HUMAN Homo sapiens ATG14 autophagy related 14 homolog (S. cerevisiae) (ATG14), mRNA. 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 1 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 uc003yjr.3 - 1 250 c.99C>T c.(97-99)ttC>ttT p.F33F NM_152628 NP_689841 Q8N9S9 SNX31_HUMAN Homo sapiens sorting nexin 31 (SNX31), mRNA. 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 1 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 uc001zqo.2 - 12 1961 c.1522G>A c.(1522-1524)Gat>Aat p.D508N TTBK2_uc010bcy.2_Missense_Mutation_p.D439N NM_173500 NP_775771 Q6IQ55 TTBK2_HUMAN Homo sapiens tau tubulin kinase 2 (TTBK2), mRNA. 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 1 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 uc002lzl.3 + 1 219 c.103G>A c.(103-105)Ggc>Agc p.G35S CREB3L3_uc002lzm.3_Missense_Mutation_p.G26S|CREB3L3_uc010xib.2_Missense_Mutation_p.G26S|CREB3L3_uc010xic.2_Missense_Mutation_p.G26S NM_032607 NP_115996 Q68CJ9 CR3L3_HUMAN Homo sapiens cAMP responsive element binding protein 3-like 3 (CREB3L3), mRNA. 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 1 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 uc003bme.4 - 2 428 c.236G>T c.(235-237)cGa>cTa p.R79L SCO2_uc021wsa.1_5'Flank|TYMP_uc003bmb.4_Missense_Mutation_p.R79L|TYMP_uc003bmc.4_Missense_Mutation_p.R79L|TYMP_uc010hbd.3_Missense_Mutation_p.R79L|TYMP_uc003bmd.4_Missense_Mutation_p.R79L|TYMP_uc011arz.1_Missense_Mutation_p.R79L NM_001953 NP_001944 P19971 TYPH_HUMAN Homo sapiens thymidine phosphorylase (TYMP), transcript variant 2, mRNA. 79 DNA replication|angiogenesis|cell differentiation|chemotaxis|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 0 0 1 0 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 uc010eak.3 + 27 4898 c.4746G>A c.(4744-4746)caG>caA p.Q1582Q MYO9B_uc002nfi.3_Silent_p.Q1582Q|MYO9B_uc002nfj.1_Silent_p.Q1582Q|MYO9B_uc002nfl.1_Silent_p.Q131Q NM_004145 NP_004136 Q13459 MYO9B_HUMAN Homo sapiens myosin IXB (MYO9B), transcript variant 1, mRNA. 1582 Tail. actin filament-based movement cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm ADP binding|ATP binding|ATPase activity|Rho GTPase activator activity|actin binding|calmodulin binding|metal ion binding|microfilament motor 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 1 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 uc001vyr.3 + 2 487 c.295C>T c.(295-297)Cat>Tat p.H99Y SLC39A2_uc001vys.3_5'UTR NM_014579 NP_055394 Q9NP94 S39A2_HUMAN Homo sapiens solute carrier family 39 (zinc transporter), member 2 (SLC39A2), transcript variant 1, mRNA. 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 1 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 uc003qnt.3 + 0 387 c.246G>T c.(244-246)cgG>cgT p.R82R NM_030949 NP_112211 Q8TAE6 PP14C_HUMAN Homo sapiens protein phosphatase 1, regulatory (inhibitor) subunit 14C (PPP1R14C), mRNA. 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 0 1 0 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 uc010rkd.2 - 0 862 c.819G>A c.(817-819)gaG>gaA p.E273E NM_001004471 NP_001004471 Q8NGQ4 O10Q1_HUMAN Homo sapiens olfactory receptor, family 10, subfamily Q, member 1 (OR10Q1), mRNA. 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 1 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 uc002rss.3 - 0 318 c.236C>G c.(235-237)tCt>tGt p.S79C NM_148962 NP_683765 Q8TDS5 OXER1_HUMAN Homo sapiens oxoeicosanoid (OXE) receptor 1 (OXER1), mRNA. 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 p.S78fs*61(1) 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 1 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 uc004bkx.1 + 39 6771 c.6740G>A c.(6739-6741)cGa>cAa p.R2247Q CNTRL_uc004blb.1_Missense_Mutation_p.R916Q|CNTRL_uc010mvp.1_Missense_Mutation_p.R197Q NM_007018 NP_008949 Q7Z7A1 CNTRL_HUMAN Homo sapiens centriolin (CNTRL), mRNA. 2247 Sufficient for interaction with HOOK2. G2/M transition of mitotic cell cycle|cell division 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 1 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 uc011djl.2 + 3 483 c.361C>T c.(361-363)Cag>Tag p.Q121* MRS2_uc003nea.3_Nonsense_Mutation_p.Q121*|MRS2_uc003neb.3_Nonsense_Mutation_p.Q121*|MRS2_uc011djm.2_Non-coding_Transcript|MRS2_uc011djn.2_Intron NM_020662 NP_065713 Q9HD23 MRS2_HUMAN Homo sapiens MRS2 magnesium homeostasis factor homolog (S. cerevisiae) (MRS2), mRNA. 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 1 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 uc001vjc.3 + 14 2147 c.1842A>C c.(1840-1842)agA>agC p.R614S PIBF1_uc001vjb.3_Missense_Mutation_p.R614S|PIBF1_uc010aep.3_Missense_Mutation_p.R73S NM_006346 NP_006337 Q8WXW3 PIBF1_HUMAN Homo sapiens progesterone immunomodulatory binding factor 1 (PIBF1), mRNA. 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 1 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 uc003vwc.4 - 14 1860 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333 NP_004324 P15056 BRAF_HUMAN Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA. 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(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(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 1 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 uc003xli.3 - 1 931 c.413C>T c.(412-414)tCg>tTg p.S138L WHSC1L1_uc011lbm.2_Missense_Mutation_p.S138L|WHSC1L1_uc010lwe.3_Missense_Mutation_p.S138L|WHSC1L1_uc003xlj.3_Missense_Mutation_p.S138L NM_023034 NP_075447 Q9BZ95 NSD3_HUMAN Homo sapiens Wolf-Hirschhorn syndrome candidate 1-like 1 (WHSC1L1), transcript variant long, mRNA. 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 1 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 uc011myu.2 - 3 693 c.507C>T c.(505-507)ctC>ctT p.L169L PNCK_uc011myt.2_Silent_p.L103L|PNCK_uc004fhz.4_5'UTR|PNCK_uc010nuh.2_Silent_p.L169L|PNCK_uc011myv.2_Silent_p.L113L|PNCK_uc011myw.2_Silent_p.L113L NM_001039582 NP_001034671 Q6P2M8 KCC1B_HUMAN Homo sapiens pregnancy up-regulated non-ubiquitously expressed CaM kinase (PNCK), transcript variant 1, mRNA. 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 1 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 uc003anx.3 + 2 782 c.577C>T c.(577-579)Cca>Tca p.P193S RASD2_uc003any.3_Missense_Mutation_p.P193S NM_014310 NP_055125 Q96D21 RHES_HUMAN Homo sapiens RASD family, member 2 (RASD2), mRNA. 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 1 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 uc003qqt.3 + 0 683 c.186C>T c.(184-186)ggC>ggT p.G62G ZDHHC14_uc003qqs.3_Silent_p.G62G NM_024630 NP_078906 Q8IZN3 ZDH14_HUMAN Homo sapiens zinc finger, DHHC-type containing 14 (ZDHHC14), transcript variant 1, mRNA. 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 1 0 0 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 uc009xyz.2 - 2 1448 c.1008delG c.(1006-1008)atgfs p.M336fs RAB11FIP2_uc001ldj.2_Frame_Shift_Del_p.M336fs NM_014904 NP_055719 Q7L804 RFIP2_HUMAN Homo sapiens RAB11 family interacting protein 2 (class I) (RAB11FIP2), mRNA. 336 protein transport plasma membrane|recycling endosome membrane protein homodimerization activity p.S335N(1) 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 uc002ojt.2 - 13 1243 c.902delT c.(901-903)atgfs p.M301fs RINL_uc002ojq.3_5'Flank|RINL_uc010xuo.2_5'Flank|SIRT2_uc010egi.2_Frame_Shift_Del_p.M264fs|SIRT2_uc002ojs.2_Frame_Shift_Del_p.M281fs|SIRT2_uc002oju.2_Frame_Shift_Del_p.M264fs|SIRT2_uc010egh.2_Intron|SIRT2_uc002ojv.2_Frame_Shift_Del_p.M299fs NM_012237 NP_085096 Q8IXJ6 SIRT2_HUMAN Homo sapiens sirtuin 2 (SIRT2), transcript variant 1, mRNA. 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 NAD+ binding|NAD-dependent histone deacetylase activity|histone acetyltransferase binding|histone deacetylase binding|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 --- --- --- --- 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 uc009xyz.2 - 2 1448 c.1008delG c.(1006-1008)atgfs p.M336fs RAB11FIP2_uc001ldj.2_Frame_Shift_Del_p.M336fs NM_014904 NP_055719 Q7L804 RFIP2_HUMAN Homo sapiens RAB11 family interacting protein 2 (class I) (RAB11FIP2), mRNA. 336 protein transport plasma membrane|recycling endosome membrane protein homodimerization activity p.S335N(1) 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-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 uc002ojt.2 - 13 1243 c.902delT c.(901-903)atgfs p.M301fs RINL_uc002ojq.3_5'Flank|RINL_uc010xuo.2_5'Flank|SIRT2_uc010egi.2_Frame_Shift_Del_p.M264fs|SIRT2_uc002ojs.2_Frame_Shift_Del_p.M281fs|SIRT2_uc002oju.2_Frame_Shift_Del_p.M264fs|SIRT2_uc010egh.2_Intron|SIRT2_uc002ojv.2_Frame_Shift_Del_p.M299fs NM_012237 NP_085096 Q8IXJ6 SIRT2_HUMAN Homo sapiens sirtuin 2 (SIRT2), transcript variant 1, mRNA. 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 NAD+ binding|NAD-dependent histone deacetylase activity|histone acetyltransferase binding|histone deacetylase binding|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 --- --- --- ---