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 RPS6KA5 9252 broad.mit.edu 37 14 91389482 91389482 + Missense_Mutation SNP C C G TCGA-05-4434-01A-01D-1265-08 TCGA-05-4434-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f529778c-5968-4d87-80c0-bd14ba2311d0 934b703f-5677-4597-9bf5-b55604e1f7d9 g.chr14:91389482C>G ENST00000261991.3 - 6 850 c.677G>C c.(676-678)aGa>aCa p.R226T RPS6KA5_ENST00000418736.2_Missense_Mutation_p.R226T|RPS6KA5_ENST00000536315.2_Missense_Mutation_p.R147T NM_004755.2 NP_004746.2 O75582 KS6A5_HUMAN ribosomal protein S6 kinase, 90kDa, polypeptide 5 226 Protein kinase 1. axon guidance|epidermal growth factor receptor signaling pathway|histone phosphorylation|innate immune response|interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytoplasm|nucleoplasm ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity p.R226T(2) endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2) 24 all_cancers(154;0.0148)|Melanoma(154;0.099)|all_epithelial(191;0.146) Epithelial(152;0.182)|BRCA - Breast invasive adenocarcinoma(234;0.201) ATCTCCCCCTCTGACAATATC 0.333000 5 106 0 0 0.029380 0 0 ASCC2 84164 broad.mit.edu 37 22 30197042 30197042 + Silent SNP A A G TCGA-05-4434-01A-01D-1265-08 TCGA-05-4434-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f529778c-5968-4d87-80c0-bd14ba2311d0 934b703f-5677-4597-9bf5-b55604e1f7d9 g.chr22:30197042A>G ENST00000397771.2 - 16 1803 c.1626T>C c.(1624-1626)aaT>aaC p.N542N ASCC2_ENST00000307790.3_Silent_p.N542N|ASCC2_ENST00000542393.1_Silent_p.N466N Q9H1I8 ASCC2_HUMAN activating signal cointegrator 1 complex subunit 2 542 regulation of transcription, DNA-dependent|transcription, DNA-dependent p.N542N(1) endometrium(3)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|urinary_tract(1) 18 OV - Ovarian serous cystadenocarcinoma(5;0.000103)|Epithelial(10;0.0169)|all cancers(5;0.0259) CAAACTCGTCATTCTGGAAGA 0.567000 26 145 0 0 0.045705 0 0 MYH9 4627 broad.mit.edu 37 22 36708237 36708237 + Missense_Mutation SNP C C A TCGA-05-4434-01A-01D-1265-08 TCGA-05-4434-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f529778c-5968-4d87-80c0-bd14ba2311d0 934b703f-5677-4597-9bf5-b55604e1f7d9 g.chr22:36708237C>A ENST00000216181.5 - 14 1815 c.1585G>T c.(1585-1587)Gac>Tac p.D529Y NM_002473.4 NP_002464.1 P35579 MYH9_HUMAN myosin, heavy chain 9, non-muscle 529 Myosin head-like. actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity p.D529Y(1) NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3) 86 CACTCCTCGTCCAGCAGGGCC 0.637000 T ALK ALCL """Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome""" Hereditary Macrothrombocytopenia, MYH9-associated 8 73 1.58986e-06 1.70183e-06 0.069234 1 0 LRRTM4 80059 broad.mit.edu 37 2 77745685 77745685 + Missense_Mutation SNP G G A TCGA-05-4434-01A-01D-1265-08 TCGA-05-4434-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f529778c-5968-4d87-80c0-bd14ba2311d0 934b703f-5677-4597-9bf5-b55604e1f7d9 g.chr2:77745685G>A ENST00000409088.3 - 3 1724 c.1310C>T c.(1309-1311)gCc>gTc p.A437V LRRTM4_ENST00000409282.1_Missense_Mutation_p.A438V|LRRTM4_ENST00000409093.1_Missense_Mutation_p.A437V|LRRTM4_ENST00000409884.1_Missense_Mutation_p.A437V|LRRTM4_ENST00000409911.1_Missense_Mutation_p.A438V NM_024993.4 NP_079269.4 Q86VH4 LRRT4_HUMAN leucine rich repeat transmembrane neuronal 4 437 integral to membrane p.A437V(2) autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1) 64 Colorectal(11;0.059) GAGGATCATGGCCACTGAGAG 0.498000 20 71 0 0 0.062417 0 0 ZNF733P 643955 broad.mit.edu 37 7 62752443 62752443 + RNA SNP G G C TCGA-05-4434-01A-01D-1265-08 TCGA-05-4434-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f529778c-5968-4d87-80c0-bd14ba2311d0 934b703f-5677-4597-9bf5-b55604e1f7d9 g.chr7:62752443G>C ENST00000331425.6 - 0 992 NR_003952.1 CTTATGTCTAGTAAGGTTTGA 0.438000 3 43 0 0 0.004672 0 0 CD4 920 broad.mit.edu 37 12 6925422 6925422 + Missense_Mutation SNP C C T TCGA-05-4434-01A-01D-1265-08 TCGA-05-4434-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f529778c-5968-4d87-80c0-bd14ba2311d0 934b703f-5677-4597-9bf5-b55604e1f7d9 g.chr12:6925422C>T ENST00000011653.4 + 6 1066 c.808C>T c.(808-810)Cct>Tct p.P270S CD4_ENST00000538827.1_3'UTR|CD4_ENST00000541982.1_3'UTR NM_000616.4|NM_001195015.2|NM_001195016.2|NM_001195017.2 NP_000607.1|NP_001181944.1|NP_001181945.1|NP_001181946.1 P01730 CD4_HUMAN CD4 molecule 270 Ig-like C2-type 2. cell adhesion|entry into host cell|immune response|induction by virus of host cell-cell fusion|initiation of viral infection|maintenance of protein location in cell|positive regulation of interleukin-2 biosynthetic process|positive regulation of protein kinase activity|protein palmitoleylation|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|T cell selection|transmembrane receptor protein tyrosine kinase signaling pathway early endosome|endoplasmic reticulum membrane|integral to membrane|T cell receptor complex coreceptor activity|extracellular matrix structural constituent|glycoprotein binding|MHC class II protein binding|protein homodimerization activity|protein kinase binding|transmembrane receptor activity|zinc ion binding p.P270S(1) breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1) 23 Myeloproliferative disorder(1001;0.0122) TACCCAGGACCCTAAGCTCCA 0.587000 48 84 0 0 0.048971 0 0 SEMA3D 223117 broad.mit.edu 37 7 84644482 84644482 + Silent SNP G G A TCGA-05-4434-01A-01D-1265-08 TCGA-05-4434-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f529778c-5968-4d87-80c0-bd14ba2311d0 934b703f-5677-4597-9bf5-b55604e1f7d9 g.chr7:84644482G>A ENST00000284136.6 - 14 1639 c.1596C>T c.(1594-1596)caC>caT p.H532H SEMA3D_ENST00000484038.1_5'UTR NM_152754.2 NP_689967.2 O95025 SEM3D_HUMAN sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D 532 cell differentiation|nervous system development extracellular region|membrane receptor activity p.H532H(1) NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2) 73 TGTCGCATCTGTGCAAGGAGA 0.468000 11 65 0 0 0.080935 0 0 LAMA1 284217 broad.mit.edu 37 18 6980611 6980611 + Missense_Mutation SNP C C G TCGA-05-4434-01A-01D-1265-08 TCGA-05-4434-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f529778c-5968-4d87-80c0-bd14ba2311d0 934b703f-5677-4597-9bf5-b55604e1f7d9 g.chr18:6980611C>G ENST00000389658.3 - 42 6009 c.5916G>C c.(5914-5916)ttG>ttC p.L1972F NM_005559.3 NP_005550.2 P25391 LAMA1_HUMAN laminin, alpha 1 1972 Domain II and I. axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development extracellular space|laminin-1 complex|laminin-3 complex extracellular matrix structural constituent|receptor binding p.L1972F(1) NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3) 205 Colorectal(10;0.172) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) TCTTATTTCTCAATTCACTCA 0.358000 4 55 0 0 0.009096 0 0 SLC2A8 29988 broad.mit.edu 37 9 130162258 130162258 + Missense_Mutation SNP G G A TCGA-05-4434-01A-01D-1265-08 TCGA-05-4434-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f529778c-5968-4d87-80c0-bd14ba2311d0 934b703f-5677-4597-9bf5-b55604e1f7d9 g.chr9:130162258G>A ENST00000373371.3 + 4 588 c.499G>A c.(499-501)Gtc>Atc p.V167I SLC2A8_ENST00000373352.1_5'UTR|SLC2A8_ENST00000373360.3_Missense_Mutation_p.V167I NM_001271712.1|NM_014580.3 NP_001258641.1|NP_055395.2 Q9NY64 GTR8_HUMAN solute carrier family 2 (facilitated glucose transporter), member 8 167 cytoplasmic vesicle membrane|integral to plasma membrane D-glucose transmembrane transporter activity p.V167I(1) cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1) 11 AATGGTCGTCGTCGGCATCCT 0.517000 12 68 0 0 0.105934 0 0 RRN3P2 653390 broad.mit.edu 37 16 29110458 29110458 + RNA SNP T T C rs151074589 by1000genomes TCGA-05-4434-01A-01D-1265-08 TCGA-05-4434-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f529778c-5968-4d87-80c0-bd14ba2311d0 934b703f-5677-4597-9bf5-b55604e1f7d9 g.chr16:29110458T>C ENST00000564580.1 + 0 1131 p.W375R(25) GAATTTTGAGTGGATAGTGAT 0.328000 3 43 0 0 0.009096 0 0 ACTR3B 57180 broad.mit.edu 37 7 152497649 152497649 + Missense_Mutation SNP A A C TCGA-05-4434-01A-01D-1265-08 TCGA-05-4434-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f529778c-5968-4d87-80c0-bd14ba2311d0 934b703f-5677-4597-9bf5-b55604e1f7d9 g.chr7:152497649A>C ENST00000256001.8 + 3 268 c.134A>C c.(133-135)gAc>gCc p.D45A ACTR3B_ENST00000537264.1_Intron|ACTR3B_ENST00000397282.2_5'UTR|ACTR3B_ENST00000377776.3_Missense_Mutation_p.D45A NM_020445.5 NP_065178.1 Q9P1U1 ARP3B_HUMAN ARP3 actin-related protein 3 homolog B (yeast) 45 regulation of actin filament polymerization cell projection|cytoplasm|cytoskeleton actin binding|ATP binding p.D45A(1) breast(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1) 13 all_hematologic(28;0.0592)|Prostate(32;0.191) OV - Ovarian serous cystadenocarcinoma(82;0.0287) UCEC - Uterine corpus endometrioid carcinoma (81;0.0434) AAGGTAGTTGACCAAGCTCAA 0.373000 17 137 0 0 0.033300 0 0 LASP1 3927 broad.mit.edu 37 17 37034383 37034383 + Missense_Mutation SNP A A G TCGA-05-4434-01A-01D-1265-08 TCGA-05-4434-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f529778c-5968-4d87-80c0-bd14ba2311d0 934b703f-5677-4597-9bf5-b55604e1f7d9 g.chr17:37034383A>G ENST00000433206.2 + 2 273 c.31A>G c.(31-33)Act>Gct p.T11A LASP1_ENST00000435347.3_Silent_p.T38T|LASP1_ENST00000318008.6_Silent_p.T38T Q14847 LASP1_HUMAN LIM and SH3 protein 1 0 LIM zinc-binding. cortical actin cytoskeleton ion transmembrane transporter activity|SH3/SH2 adaptor activity|zinc ion binding p.T38T(1) breast(1)|large_intestine(2)|lung(4)|urinary_tract(2) 9 GCAAGATGACACTGAACATGA 0.547000 T MLL AML 20 87 0 0 0.069288 0 0 STX8 9482 broad.mit.edu 37 17 9460847 9460847 + Splice_Site SNP T T A TCGA-05-4434-01A-01D-1265-08 TCGA-05-4434-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f529778c-5968-4d87-80c0-bd14ba2311d0 934b703f-5677-4597-9bf5-b55604e1f7d9 g.chr17:9460847T>A ENST00000306357.3 - 3 545 c.e3-2 STX8_ENST00000573373.1_Splice_Site|STX8_ENST00000574431.1_Splice_Site NM_004853.2 NP_004844.1 Q9UNK0 STX8_HUMAN syntaxin 8 transport endoplasmic reticulum|integral to plasma membrane p.?(1) central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|skin(1)|urinary_tract(1) 12 CACGGTAAGCTGAAAAGAAAA 0.403000 19 65 0 0 0.069288 0 0 SULT1B1 27284 broad.mit.edu 37 4 70620398 70620398 + Missense_Mutation SNP T T A TCGA-05-4434-01A-01D-1265-08 TCGA-05-4434-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f529778c-5968-4d87-80c0-bd14ba2311d0 934b703f-5677-4597-9bf5-b55604e1f7d9 g.chr4:70620398T>A ENST00000310613.2 - 3 564 c.267A>T c.(265-267)ttA>ttT p.L89F NM_014465.3 NP_055280.2 O43704 ST1B1_HUMAN sulfotransferase family, cytosolic, 1B, member 1 89 3'-phosphoadenosine 5'-phosphosulfate metabolic process|cellular biogenic amine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|thyroid hormone metabolic process|xenobiotic metabolic process cytosol p.L89F(1) breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(14)|prostate(1)|upper_aerodigestive_tract(1) 24 CTGATGTTCTTAATCCAGGGA 0.308000 5 85 0 0 0.029380 0 0 MYH1 4619 broad.mit.edu 37 17 10412921 10412921 + Nonsense_Mutation SNP G G A TCGA-05-4434-01A-01D-1265-08 TCGA-05-4434-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f529778c-5968-4d87-80c0-bd14ba2311d0 934b703f-5677-4597-9bf5-b55604e1f7d9 g.chr17:10412921G>A ENST00000226207.5 - 15 1562 c.1468C>T c.(1468-1470)Cag>Tag p.Q490* CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA NM_005963.3 NP_005954.3 P12882 MYH1_HUMAN myosin, heavy chain 1, skeletal muscle, adult 490 Myosin head-like. muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity p.Q490*(1) NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5) 176 TTGAAAAACTGTTGCAGTTTC 0.428000 23 178 0 0 0.034045 0 0 PCDHGA6 56109 broad.mit.edu 37 5 140755505 140755505 + Missense_Mutation SNP G G A TCGA-05-4434-01A-01D-1265-08 TCGA-05-4434-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f529778c-5968-4d87-80c0-bd14ba2311d0 934b703f-5677-4597-9bf5-b55604e1f7d9 g.chr5:140755505G>A ENST00000517434.1 + 1 1855 c.1855G>A c.(1855-1857)Gtg>Atg p.V619M PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA2_ENST00000394576.2_Intron NM_018919.2|NM_032086.1 NP_061742.1|NP_114475.1 p.V619M(1) breast(1)|large_intestine(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ACTTTTCTCAGTGGGCCTGCA 0.682000 12 83 0 0 0.028581 0 0 IMPG1 3617 broad.mit.edu 37 6 76728564 76728564 + Silent SNP T T A TCGA-05-4434-01A-01D-1265-08 TCGA-05-4434-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f529778c-5968-4d87-80c0-bd14ba2311d0 934b703f-5677-4597-9bf5-b55604e1f7d9 g.chr6:76728564T>A ENST00000369950.3 - 7 867 c.678A>T c.(676-678)acA>acT p.T226T IMPG1_ENST00000369963.3_3'UTR NM_001563.2 NP_001554.2 Q17R60 IMPG1_HUMAN interphotoreceptor matrix proteoglycan 1 226 visual perception proteinaceous extracellular matrix extracellular matrix structural constituent|receptor activity p.T226T(1) breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222) CAGCGAATTCTGTTTCTCTTT 0.403000 42 54 0 0 0.111260 0 0 GRID1 2894 broad.mit.edu 37 10 87898745 87898745 + Missense_Mutation SNP G G A TCGA-05-4434-01A-01D-1265-08 TCGA-05-4434-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f529778c-5968-4d87-80c0-bd14ba2311d0 934b703f-5677-4597-9bf5-b55604e1f7d9 g.chr10:87898745G>A ENST00000327946.7 - 4 642 c.557C>T c.(556-558)tCg>tTg p.S186L NM_017551.2 NP_060021.1 Q9ULK0 GRID1_HUMAN glutamate receptor, ionotropic, delta 1 186 cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity p.S186L(1) NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5) 106 L-Glutamic Acid(DB00142) GCCCAGCCGCGAGGCCTGGTC 0.512000 Multiple Myeloma(13;0.14) 7 208 0 0 0.080935 0 0 PMFBP1 83449 broad.mit.edu 37 16 72174328 72174328 + Missense_Mutation SNP C C T TCGA-05-4434-01A-01D-1265-08 TCGA-05-4434-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f529778c-5968-4d87-80c0-bd14ba2311d0 934b703f-5677-4597-9bf5-b55604e1f7d9 g.chr16:72174328C>T ENST00000537465.1 - 6 948 c.790G>A c.(790-792)Gcc>Acc p.A264T PMFBP1_ENST00000355636.6_Missense_Mutation_p.A119T|PMFBP1_ENST00000237353.10_Missense_Mutation_p.A264T Q8TBY8 PMFBP_HUMAN polyamine modulated factor 1 binding protein 1 264 p.A264T(1) NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1) 45 Ovarian(137;0.179) TTACTGCAGGCCAGCTTATTT 0.463000 57 482 0 0 0.048971 0 0 NLRP5 126206 broad.mit.edu 37 19 56572884 56572884 + Nonsense_Mutation SNP G G A TCGA-05-4434-01A-01D-1265-08 TCGA-05-4434-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f529778c-5968-4d87-80c0-bd14ba2311d0 934b703f-5677-4597-9bf5-b55604e1f7d9 g.chr19:56572884G>A ENST00000390649.3 + 15 3593 c.3593G>A c.(3592-3594)tGg>tAg p.W1198* NM_153447.4 NP_703148.4 P59047 NALP5_HUMAN NLR family, pyrin domain containing 5 1198 mitochondrion|nucleolus ATP binding p.W1198*(1) breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2) 25 Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0326) CGGTACTGGTGGAAAAACTGA 0.488000 20 72 0 0 0.076483 0 0 LINC00969 440993 broad.mit.edu 37 3 195400728 195400728 + RNA SNP A A G rs12107841 by1000genomes TCGA-05-4434-01A-01D-1265-08 TCGA-05-4434-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f529778c-5968-4d87-80c0-bd14ba2311d0 934b703f-5677-4597-9bf5-b55604e1f7d9 g.chr3:195400728A>G ENST00000445430.1 + 0 1324 GATTGTGCCCAGCCTGTACGC 0.587000 3 36 0 0 0.009096 0 0 IFNLR1 163702 broad.mit.edu 37 1 24484026 24484026 + Missense_Mutation SNP G G A TCGA-05-4434-01A-01D-1265-08 TCGA-05-4434-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f529778c-5968-4d87-80c0-bd14ba2311d0 934b703f-5677-4597-9bf5-b55604e1f7d9 g.chr1:24484026G>A ENST00000327535.1 - 7 1169 c.1157C>T c.(1156-1158)tCa>tTa p.S386L IFNLR1_ENST00000327575.2_3'UTR|IFNLR1_ENST00000374421.3_Missense_Mutation_p.S357L NM_170743.3|NM_173064.2 NP_734464.1|NP_775087.1 interferon, lambda receptor 1 p.S386L(1) GCTTCTGTCTGAAGAATCCCA 0.657000 3 39 0 0 0.009096 0 0 PARP9 83666 broad.mit.edu 37 3 122274901 122274901 + Missense_Mutation SNP T T A TCGA-05-4434-01A-01D-1265-08 TCGA-05-4434-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f529778c-5968-4d87-80c0-bd14ba2311d0 934b703f-5677-4597-9bf5-b55604e1f7d9 g.chr3:122274901T>A ENST00000462315.1 - 4 410 c.117A>T c.(115-117)ttA>ttT p.L39F PARP9_ENST00000471785.1_Missense_Mutation_p.L39F|PARP9_ENST00000360356.2_Missense_Mutation_p.L74F|PARP9_ENST00000492382.1_Intron|PARP9_ENST00000477522.2_Missense_Mutation_p.L39F NM_001146106.1 NP_001139578.1 Q8IXQ6 PARP9_HUMAN poly (ADP-ribose) polymerase family, member 9 74 cell migration cytosol|nucleus NAD+ ADP-ribosyltransferase activity|protein binding p.L74F(1) endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3) 34 GBM - Glioblastoma multiforme(114;0.0519) CATTATTTTTTAAAATTTTGA 0.383000 7 81 0 0 0.038147 0 0 RPAIN 84268 broad.mit.edu 37 17 5324728 5324728 + Missense_Mutation SNP T T A TCGA-05-4434-01A-01D-1265-08 TCGA-05-4434-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f529778c-5968-4d87-80c0-bd14ba2311d0 934b703f-5677-4597-9bf5-b55604e1f7d9 g.chr17:5324728T>A ENST00000381209.3 + 2 764 c.194T>A c.(193-195)aTg>aAg p.M65K RPAIN_ENST00000536255.2_Missense_Mutation_p.M65K|RPAIN_ENST00000574003.1_Missense_Mutation_p.M65K|RPAIN_ENST00000405578.4_Missense_Mutation_p.M65K|RPAIN_ENST00000381208.5_Missense_Mutation_p.M65K|RPAIN_ENST00000327154.6_Missense_Mutation_p.M65K NM_001033002.3 NP_001028174.2 Q86UA6 RIP_HUMAN RPA interacting protein 65 DNA recombination|DNA repair|DNA-dependent DNA replication|protein import into nucleus|response to UV cytoplasm|nucleolus|PML body metal ion binding|protein complex binding p.M65K(2) breast(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1) 6 CAAGAGGTGATGGAAGAAGAG 0.527000 10 97 0 0 0.069234 0 0 NFAT5 10725 broad.mit.edu 37 16 69724870 69724870 + Missense_Mutation SNP A A G TCGA-05-4434-01A-01D-1265-08 TCGA-05-4434-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f529778c-5968-4d87-80c0-bd14ba2311d0 934b703f-5677-4597-9bf5-b55604e1f7d9 g.chr16:69724870A>G ENST00000349945.1 + 13 3072 c.1520A>G c.(1519-1521)gAt>gGt p.D507G NFAT5_ENST00000567239.1_Missense_Mutation_p.D600G|NFAT5_ENST00000566899.1_Missense_Mutation_p.D507G|NFAT5_ENST00000432919.1_Missense_Mutation_p.D601G|NFAT5_ENST00000354436.2_Missense_Mutation_p.D583G|NFAT5_ENST00000393742.2_Missense_Mutation_p.D507G NM_138714.3 NP_619728.2 O94916 NFAT5_HUMAN nuclear factor of activated T-cells 5, tonicity-responsive 583 excretion|signal transduction|transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity p.D507G(1)|p.D601G(1) NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 37 TGTAATTTAGATAAGGTAAAT 0.313000 33 144 0 0 0.080422 0 0 PDPR 55066 broad.mit.edu 37 16 70165265 70165265 + Missense_Mutation SNP G G A TCGA-05-4434-01A-01D-1265-08 TCGA-05-4434-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f529778c-5968-4d87-80c0-bd14ba2311d0 934b703f-5677-4597-9bf5-b55604e1f7d9 g.chr16:70165265G>A ENST00000288050.4 + 8 1747 c.790G>A c.(790-792)Gaa>Aaa p.E264K PDPR_ENST00000398122.3_Missense_Mutation_p.E164K|PDPR_ENST00000568530.1_Missense_Mutation_p.E264K NM_017990.3 NP_060460.4 Q8NCN5 PDPR_HUMAN pyruvate dehydrogenase phosphatase regulatory subunit 264 glycine catabolic process|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate mitochondrial matrix aminomethyltransferase activity|oxidoreductase activity p.E264K(1) breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|skin(2)|stomach(3) 33 BRCA - Breast invasive adenocarcinoma(221;0.124) ACATGCCTGCGAACACTTCTA 0.517000 3 14 0 0 0.004672 0 0 NF2 4771 broad.mit.edu 37 22 30035169 30035169 + Nonsense_Mutation SNP C C T TCGA-05-4434-01A-01D-1265-08 TCGA-05-4434-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f529778c-5968-4d87-80c0-bd14ba2311d0 934b703f-5677-4597-9bf5-b55604e1f7d9 g.chr22:30035169C>T ENST00000338641.4 + 3 772 c.331C>T c.(331-333)Cag>Tag p.Q111* NF2_ENST00000397789.3_Nonsense_Mutation_p.Q111*|NF2_ENST00000413209.2_Nonsense_Mutation_p.Q111*|NF2_ENST00000361452.4_Intron|NF2_ENST00000361676.4_Nonsense_Mutation_p.Q69*|NF2_ENST00000347330.5_Intron|NF2_ENST00000403435.1_Nonsense_Mutation_p.Q111*|NF2_ENST00000403999.3_Nonsense_Mutation_p.Q111*|NF2_ENST00000361166.4_Nonsense_Mutation_p.Q111*|NF2_ENST00000353887.4_Intron|NF2_ENST00000334961.7_Intron NM_000268.3|NM_016418.5|NM_181832.2 NP_000259.1|NP_057502.2|NP_861970.1 P35240 MERL_HUMAN neurofibromin 2 (merlin) 111 FERM. actin cytoskeleton organization|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of cell-matrix adhesion|negative regulation of DNA replication|negative regulation of tyrosine phosphorylation of Stat3 protein|negative regulation of tyrosine phosphorylation of Stat5 protein|positive regulation of stress fiber assembly|regulation of hippo signaling cascade|Schwann cell proliferation cytoskeleton|early endosome|extrinsic to membrane|filopodium membrane|nucleolus|perinuclear region of cytoplasm|ruffle membrane cytoskeletal protein binding|protein binding p.Q111*(4)|p.?(3)|p.H95fs*3(1)|p.V86_Q111>E(1)|p.L97fs*17(1) NS(1)|bone(2)|breast(5)|central_nervous_system(21)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(17)|large_intestine(9)|liver(1)|lung(9)|meninges(372)|ovary(2)|pituitary(1)|pleura(9)|prostate(1)|skin(7)|soft_tissue(303)|stomach(2)|thyroid(2)|upper_aerodigestive_tract(1)|urinary_tract(4) 776 GGAGCTGGTTCAGGAGATCAC 0.458000 """D, Mis, N, F, S, O""" """meningioma, acoustic neuroma, renal """ """meningioma, acoustic neuroma""" Neurofibromatosis, type 2 7 114 0 0 0.029380 0 0 FOXF2 2295 broad.mit.edu 37 6 1390684 1390684 + Missense_Mutation SNP C C A TCGA-05-4434-01A-01D-1265-08 TCGA-05-4434-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f529778c-5968-4d87-80c0-bd14ba2311d0 934b703f-5677-4597-9bf5-b55604e1f7d9 g.chr6:1390684C>A ENST00000259806.1 + 1 616 c.502C>A c.(502-504)Ccc>Acc p.P168T NM_001452.1 NP_001443.1 Q12947 FOXF2_HUMAN forkhead box F2 168 epithelial to mesenchymal transition|genitalia development|palate development|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding p.P168T(1) large_intestine(2)|lung(5)|prostate(1) 8 Ovarian(93;0.0733) all_lung(73;0.0713)|all_hematologic(90;0.0895) OV - Ovarian serous cystadenocarcinoma(45;0.095) CCTCGGGCGGCCCGGCAAGGG 0.672000 5 89 1.23904e-05 1.30788e-05 0.014758 1 0 PCDH9 5101 broad.mit.edu 37 13 67801491 67801491 + Missense_Mutation SNP C C T TCGA-05-4434-01A-01D-1265-08 TCGA-05-4434-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f529778c-5968-4d87-80c0-bd14ba2311d0 934b703f-5677-4597-9bf5-b55604e1f7d9 g.chr13:67801491C>T ENST00000544246.1 - 2 1773 c.1082G>A c.(1081-1083)aGg>aAg p.R361K PCDH9_ENST00000456367.1_Missense_Mutation_p.R361K|PCDH9_ENST00000377861.3_Missense_Mutation_p.R361K|PCDH9_ENST00000377865.2_Missense_Mutation_p.R361K|PCDH9_ENST00000328454.5_Missense_Mutation_p.R361K NM_203487.2 NP_982354.1 Q9HC56 PCDH9_HUMAN protocadherin 9 361 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.R361K(1) breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3) 103 Hepatocellular(98;0.0906)|Breast(118;0.107) GBM - Glioblastoma multiforme(99;0.00819) TATAATGTACCTGAGGTCTAT 0.438000 9 265 0 0 0.058154 0 0 PARP14 54625 broad.mit.edu 37 3 122418783 122418783 + Missense_Mutation SNP A A G TCGA-05-4434-01A-01D-1265-08 TCGA-05-4434-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f529778c-5968-4d87-80c0-bd14ba2311d0 934b703f-5677-4597-9bf5-b55604e1f7d9 g.chr3:122418783A>G ENST00000474629.2 + 6 1648 c.1382A>G c.(1381-1383)aAa>aGa p.K461R NM_017554.2 NP_060024.2 Q460N5 PAR14_HUMAN poly (ADP-ribose) polymerase family, member 14 461 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane NAD+ ADP-ribosyltransferase activity p.K461R(1)|p.K298R(1) NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1) 50 GBM - Glioblastoma multiforme(114;0.0531) CAAAAAATTAAAAGGGAAGAG 0.398000 13 60 0 0 0.024245 0 0 FGF16 8823 broad.mit.edu 37 X 76711920 76711920 + Missense_Mutation SNP T T C TCGA-05-4434-01A-01D-1265-08 TCGA-05-4434-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f529778c-5968-4d87-80c0-bd14ba2311d0 934b703f-5677-4597-9bf5-b55604e1f7d9 g.chrX:76711920T>C ENST00000439435.1 + 2 257 c.257T>C c.(256-258)cTa>cCa p.L86P O43320 FGF16_HUMAN fibroblast growth factor 16 0 cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|metabolic process|organ morphogenesis|response to temperature stimulus extracellular space growth factor activity p.T85T(1) NS(1)|breast(1)|lung(2) 4 GATACAGGACTAAACGACACC 0.473000 16 93 0 0 0.033300 0 0 ERBB3 2065 broad.mit.edu 37 12 56489568 56489568 + Missense_Mutation SNP G G A TCGA-05-4434-01A-01D-1265-08 TCGA-05-4434-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f529778c-5968-4d87-80c0-bd14ba2311d0 934b703f-5677-4597-9bf5-b55604e1f7d9 g.chr12:56489568G>A ENST00000267101.3 + 17 2473 c.2033G>A c.(2032-2034)aGg>aAg p.R678K ERBB3_ENST00000450146.2_Missense_Mutation_p.R35K|ERBB3_ENST00000415288.2_Missense_Mutation_p.R619K NM_001982.3 NP_001973.2 P21860 ERBB3_HUMAN v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3 678 cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity p.R678K(1) central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1) 8 OV - Ovarian serous cystadenocarcinoma(18;0.112) AGGGCTATGAGGCGATACTTG 0.433000 16 130 0 0 0.028581 0 0 UNC13A 23025 broad.mit.edu 37 19 17780382 17780382 + Missense_Mutation SNP G G A TCGA-05-4434-01A-01D-1265-08 TCGA-05-4434-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f529778c-5968-4d87-80c0-bd14ba2311d0 934b703f-5677-4597-9bf5-b55604e1f7d9 g.chr19:17780382G>A ENST00000428389.2 - 6 637 c.638C>T c.(637-639)aCg>aTg p.T213M UNC13A_ENST00000252773.7_Missense_Mutation_p.T125M|UNC13A_ENST00000552293.1_Missense_Mutation_p.T125M|UNC13A_ENST00000550896.1_Missense_Mutation_p.T125M|UNC13A_ENST00000519716.2_Missense_Mutation_p.T125M|UNC13A_ENST00000551649.1_Missense_Mutation_p.T125M Q9UPW8 UN13A_HUMAN unc-13 homolog A (C. elegans) 125 exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding p.T213M(2)|p.T125M(2) breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2) 61 CTCAAAGCGCGTGTCCAGGAG 0.612000 8 32 0 0 0.058154 0 0 ABCC11 85320 broad.mit.edu 37 16 48244898 48244898 + Silent SNP C C T TCGA-05-4434-01A-01D-1265-08 TCGA-05-4434-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f529778c-5968-4d87-80c0-bd14ba2311d0 934b703f-5677-4597-9bf5-b55604e1f7d9 g.chr16:48244898C>T ENST00000394747.1 - 10 1918 c.1569G>A c.(1567-1569)ctG>ctA p.L523L ABCC11_ENST00000394748.1_Silent_p.L523L|ABCC11_ENST00000356608.2_Silent_p.L523L|ABCC11_ENST00000537808.1_Silent_p.L523L|ABCC11_ENST00000353782.5_Silent_p.L523L NM_033151.3 NP_149163.2 Q96J66 ABCCB_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 11 523 ABC transporter 1. integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances p.L523L(1) breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2) 83 all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166) ACTCTGGGCCCAGGCTGTTCC 0.617000 25 42 0 0 0.083992 0 0 NLRP5 126206 broad.mit.edu 37 19 56572808 56572808 + Missense_Mutation SNP G G A TCGA-05-4434-01A-01D-1265-08 TCGA-05-4434-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f529778c-5968-4d87-80c0-bd14ba2311d0 934b703f-5677-4597-9bf5-b55604e1f7d9 g.chr19:56572808G>A ENST00000390649.3 + 15 3517 c.3517G>A c.(3517-3519)Gaa>Aaa p.E1173K NM_153447.4 NP_703148.4 P59047 NALP5_HUMAN NLR family, pyrin domain containing 5 1173 mitochondrion|nucleolus ATP binding p.E1173K(1) breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2) 25 Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0326) GCTGCTGGAGGAAGTGCAGCT 0.498000 17 55 0 0 0.038395 0 0 SNX30 401548 broad.mit.edu 37 9 115580031 115580031 + Missense_Mutation SNP G G T TCGA-05-4434-01A-01D-1265-08 TCGA-05-4434-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f529778c-5968-4d87-80c0-bd14ba2311d0 934b703f-5677-4597-9bf5-b55604e1f7d9 g.chr9:115580031G>T ENST00000374232.3 + 3 559 c.395G>T c.(394-396)aGa>aTa p.R132I NM_001012994.1 NP_001013012.1 Q5VWJ9 SNX30_HUMAN sorting nexin family member 30 132 PX. cell communication|protein transport cytoplasm phosphatidylinositol binding p.R132I(1) large_intestine(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 8 GTTCGTCGAAGATACCAGGAT 0.438000 27 80 2.47511e-08 2.68726e-08 0.037714 1 0 SLC22A2 6582 broad.mit.edu 37 6 160679700 160679700 + Silent SNP C C T TCGA-05-4434-01A-01D-1265-08 TCGA-05-4434-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f529778c-5968-4d87-80c0-bd14ba2311d0 934b703f-5677-4597-9bf5-b55604e1f7d9 g.chr6:160679700C>T ENST00000366952.1 - 3 1508 c.27G>A c.(25-27)tcG>tcA p.S9S SLC22A2_ENST00000491092.1_5'UTR|SLC22A2_ENST00000366953.3_Silent_p.S30S O15244 S22A2_HUMAN solute carrier family 22 (organic cation transporter), member 2 30 body fluid secretion|neurotransmitter biosynthetic process|neurotransmitter secretion integral to plasma membrane|membrane fraction neurotransmitter transporter activity|organic cation transmembrane transporter activity p.S30S(1) breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(16)|prostate(2)|skin(1) 27 Breast(66;0.000776)|Ovarian(120;0.0303) OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06) CGAAGGTAGCCGAGAGCAGAG 0.612000 4 59 0 0 0.021553 0 0 DUSP9 1852 broad.mit.edu 37 X 152915088 152915088 + Missense_Mutation SNP G G A TCGA-05-4434-01A-01D-1265-08 TCGA-05-4434-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f529778c-5968-4d87-80c0-bd14ba2311d0 934b703f-5677-4597-9bf5-b55604e1f7d9 g.chrX:152915088G>A ENST00000342782.3 + 3 1040 c.775G>A c.(775-777)Gac>Aac p.D259N DUSP9_ENST00000370167.4_Missense_Mutation_p.D259N Q99956 DUS9_HUMAN dual specificity phosphatase 9 259 Tyrosine-protein phosphatase. inactivation of MAPK activity|JNK cascade cytosol|endoplasmic reticulum|nucleus MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity p.D259N(1) breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1) 16 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) CCCCATCTCCGACCACTGGAG 0.567000 8 243 0 0 0.047766 0 0 ZNF770 54989 broad.mit.edu 37 15 35274487 35274487 + Silent SNP T T C TCGA-05-4434-01A-01D-1265-08 TCGA-05-4434-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f529778c-5968-4d87-80c0-bd14ba2311d0 934b703f-5677-4597-9bf5-b55604e1f7d9 g.chr15:35274487T>C ENST00000356321.4 - 3 1493 c.1149A>G c.(1147-1149)agA>agG p.R383R NM_014106.3 NP_054825.2 Q6IQ21 ZN770_HUMAN zinc finger protein 770 383 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.R383R(1) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(11)|ovary(1) 29 Lung NSC(122;4.59e-10)|all_lung(180;8.78e-09) all cancers(64;1.97e-18)|GBM - Glioblastoma multiforme(113;2.11e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0643) CCACAAATGTTCTCTGGGTTT 0.328000 6 78 0 0 0.038147 0 0 SLC22A3 6581 broad.mit.edu 37 6 160831831 160831831 + Missense_Mutation SNP C C T TCGA-05-4434-01A-01D-1265-08 TCGA-05-4434-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f529778c-5968-4d87-80c0-bd14ba2311d0 934b703f-5677-4597-9bf5-b55604e1f7d9 g.chr6:160831831C>T ENST00000392145.1 + 5 955 c.928C>T c.(928-930)Cgc>Tgc p.R310C SLC22A3_ENST00000275300.2_Missense_Mutation_p.R310C O75751 S22A3_HUMAN solute carrier family 22 (organic cation transporter), member 3 310 integral to plasma membrane|membrane fraction protein binding|quaternary ammonium group transmembrane transporter activity p.R310C(1) NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 27 Breast(66;0.00028)|Ovarian(120;0.0308)|Prostate(117;0.218) OV - Ovarian serous cystadenocarcinoma(65;9.47e-17)|BRCA - Breast invasive adenocarcinoma(81;9.75e-06) GATCCTGAGACGCATTGCTAA 0.418000 9 89 0 0 0.047766 0 0 NFX1 4799 broad.mit.edu 37 9 33369972 33369972 + Missense_Mutation SNP A A G TCGA-05-4434-01A-01D-1265-08 TCGA-05-4434-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f529778c-5968-4d87-80c0-bd14ba2311d0 934b703f-5677-4597-9bf5-b55604e1f7d9 g.chr9:33369972A>G ENST00000379540.3 + 24 3421 c.3359A>G c.(3358-3360)gAc>gGc p.D1120G NM_002504.4 NP_002495.2 Q12986 NFX1_HUMAN nuclear transcription factor, X-box binding 1 1120 inflammatory response|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleus DNA binding|ligase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding p.D1120G(1) central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 25 LUSC - Lung squamous cell carcinoma(29;0.00506) GBM - Glioblastoma multiforme(74;0.224) GACGTCCAGGACTAAGAAGAT 0.388000 3 52 0 0 0.004672 0 0 C10orf137 26098 broad.mit.edu 37 10 127429728 127429728 + Nonsense_Mutation SNP C C T TCGA-05-4434-01A-01D-1265-08 TCGA-05-4434-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f529778c-5968-4d87-80c0-bd14ba2311d0 934b703f-5677-4597-9bf5-b55604e1f7d9 g.chr10:127429728C>T ENST00000337623.3 + 16 2332 c.2227C>T c.(2227-2229)Cag>Tag p.Q743* C10orf137_ENST00000356792.4_Nonsense_Mutation_p.Q777* NM_015608.2 NP_056423.2 Q3B7T1 EDRF1_HUMAN chromosome 10 open reading frame 137 777 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus binding p.Q743*(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(20)|ovary(8)|pancreas(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4) 61 all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936) AAAAGAAGACCAGGAGATCCT 0.473000 16 111 0 0 0.024245 0 0 SLC22A6 9356 broad.mit.edu 37 11 62752036 62752036 + Missense_Mutation SNP C C T TCGA-05-4434-01A-01D-1265-08 TCGA-05-4434-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f529778c-5968-4d87-80c0-bd14ba2311d0 934b703f-5677-4597-9bf5-b55604e1f7d9 g.chr11:62752036C>T ENST00000377871.3 - 1 393 c.127G>A c.(127-129)Gcc>Acc p.A43T SLC22A6_ENST00000360421.4_Missense_Mutation_p.A43T|SLC22A6_ENST00000458333.2_Missense_Mutation_p.A43T|SLC22A6_ENST00000421062.2_Missense_Mutation_p.A43T NM_004790.4|NM_153278.2 NP_004781.2|NP_695010.1 Q4U2R8 S22A6_HUMAN solute carrier family 22 (organic anion transporter), member 6 43 alpha-ketoglutarate transport basolateral plasma membrane|integral to plasma membrane|membrane fraction inorganic anion exchanger activity|protein binding p.A43T(1) breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(18)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 36 GTAGGGATGGCAGCAGTGAAG 0.672000 3 31 0 0 0.004672 0 0 CAD 790 broad.mit.edu 37 2 27462316 27462316 + Missense_Mutation SNP G G A TCGA-05-4434-01A-01D-1265-08 TCGA-05-4434-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f529778c-5968-4d87-80c0-bd14ba2311d0 934b703f-5677-4597-9bf5-b55604e1f7d9 g.chr2:27462316G>A ENST00000264705.4 + 33 5533 c.5371G>A c.(5371-5373)Gag>Aag p.E1791K CAD_ENST00000403525.1_Missense_Mutation_p.E1728K NM_004341.3 NP_004332.2 P27708 PYR1_HUMAN carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase 1791 Linker. 'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process cytosol|neuronal cell body|nuclear matrix|terminal button aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity p.E1791K(1) NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 92 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) L-Aspartic Acid(DB00128)|L-Glutamine(DB00130) CCTGCGAGGGGAGGTTGCCTA 0.577000 3 34 0 0 0.009096 0 0 NVL 4931 broad.mit.edu 37 1 224477242 224477242 + Missense_Mutation SNP G G A TCGA-05-4434-01A-01D-1265-08 TCGA-05-4434-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f529778c-5968-4d87-80c0-bd14ba2311d0 934b703f-5677-4597-9bf5-b55604e1f7d9 g.chr1:224477242G>A ENST00000281701.6 - 13 1778 c.1519C>T c.(1519-1521)Cca>Tca p.P507S NVL_ENST00000340871.4_Missense_Mutation_p.P318S|NVL_ENST00000469075.1_Missense_Mutation_p.P416S|NVL_ENST00000391875.2_Missense_Mutation_p.P401S|NVL_ENST00000482491.1_Missense_Mutation_p.P231S|NVL_ENST00000361463.3_Missense_Mutation_p.P401S NM_002533.3 NP_002524.2 O15381 NVL_HUMAN nuclear VCP-like 507 aggresome|cytoplasm|nucleolus ATP binding|nucleoside-triphosphatase activity p.P507S(2) breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|prostate(1)|skin(4)|soft_tissue(1)|urinary_tract(1) 42 GBM - Glioblastoma multiforme(131;0.00501) CCTTTAGATGGCAAATCTTCC 0.443000 4 71 0 0 0.014758 0 0 BEND3 57673 broad.mit.edu 37 6 107390628 107390628 + Silent SNP C C T TCGA-05-4434-01A-01D-1265-08 TCGA-05-4434-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f529778c-5968-4d87-80c0-bd14ba2311d0 934b703f-5677-4597-9bf5-b55604e1f7d9 g.chr6:107390628C>T ENST00000429433.2 - 5 2416 c.1767G>A c.(1765-1767)gaG>gaA p.E589E BEND3_ENST00000369042.1_Silent_p.E589E NM_001080450.2 NP_001073919.1 Q5T5X7 BEND3_HUMAN BEN domain containing 3 589 BEN 3. p.E589E(1) central_nervous_system(1)|cervix(2)|endometrium(3)|large_intestine(7)|lung(10)|ovary(4)|prostate(3) 30 TGCGCAGGTTCTCGTGCGTGA 0.627000 9 58 0 0 0.093190 0 0 SYNE1 23345 broad.mit.edu 37 6 152751686 152751686 + Silent SNP T T C TCGA-05-4434-01A-01D-1265-08 TCGA-05-4434-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f529778c-5968-4d87-80c0-bd14ba2311d0 934b703f-5677-4597-9bf5-b55604e1f7d9 g.chr6:152751686T>C ENST00000367255.5 - 35 5221 c.4620A>G c.(4618-4620)gcA>gcG p.A1540A SYNE1_ENST00000341594.5_Silent_p.A1610A|SYNE1_ENST00000448038.1_Silent_p.A1547A|SYNE1_ENST00000367253.4_Silent_p.A1540A|SYNE1_ENST00000423061.1_Silent_p.A1547A|SYNE1_ENST00000265368.4_Silent_p.A1540A NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 1540 cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding p.A1540A(2)|p.A1547A(1) NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) CCAGACACTGTGCATGCTCTC 0.413000 HNSCC(10;0.0054) 14 380 0 0 0.024245 0 0 RGPD8 727851 broad.mit.edu 37 2 113127775 113127775 + Missense_Mutation SNP G G C TCGA-05-4434-01A-01D-1265-08 TCGA-05-4434-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f529778c-5968-4d87-80c0-bd14ba2311d0 934b703f-5677-4597-9bf5-b55604e1f7d9 g.chr2:113127775G>C ENST00000302558.3 - 23 5469 c.5278C>G c.(5278-5280)Cct>Gct p.P1760A RGPD8_ENST00000409750.1_Missense_Mutation_p.P1620A NM_001164463.1 NP_001157935.1 RANBP2-like and GRIP domain containing 8 p.P1760A(12) endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1) 10 GAACGGGAAGGATTTTCTTCC 0.308000 3 72 0 0 0.004672 0 0 FBXO43 286151 broad.mit.edu 37 8 101146122 101146122 + Missense_Mutation SNP C C G TCGA-05-4434-01A-01D-1265-08 TCGA-05-4434-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f529778c-5968-4d87-80c0-bd14ba2311d0 934b703f-5677-4597-9bf5-b55604e1f7d9 g.chr8:101146122C>G ENST00000428847.2 - 5 2351 c.2035G>C c.(2035-2037)Gaa>Caa p.E679Q NM_001029860.3 NP_001025031.2 Q4G163 FBX43_HUMAN F-box protein 43 679 meiosis zinc ion binding p.E645Q(2)|p.E679Q(1) endometrium(1)|kidney(4)|large_intestine(5)|lung(14)|prostate(1)|skin(5)|urinary_tract(1) 31 all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798) Epithelial(11;1.17e-09)|all cancers(13;1.34e-07)|OV - Ovarian serous cystadenocarcinoma(57;3.82e-05)|STAD - Stomach adenocarcinoma(118;0.0957) CTACATTCTTCAGACCCATGA 0.453000 93 117 0 0 0.048971 0 0 OXTR 5021 broad.mit.edu 37 3 8809556 8809556 + Silent SNP G G A TCGA-05-4434-01A-01D-1265-08 TCGA-05-4434-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f529778c-5968-4d87-80c0-bd14ba2311d0 934b703f-5677-4597-9bf5-b55604e1f7d9 g.chr3:8809556G>A ENST00000316793.3 - 3 942 c.318C>T c.(316-318)taC>taT p.Y106Y CAV3_ENST00000472766.1_Intron NM_000916.3 NP_000907.2 P30559 OXYR_HUMAN oxytocin receptor 106 female pregnancy|lactation|muscle contraction integral to plasma membrane oxytocin receptor activity|vasopressin receptor activity p.Y106Y(1) NS(1)|endometrium(2)|large_intestine(4)|lung(5)|urinary_tract(1) 13 OV - Ovarian serous cystadenocarcinoma(96;0.15) Carbetocin(DB01282) GGTCGGGCCCGTAGAAGCGGA 0.612000 3 15 0 0 0.004672 0 0 FBXO43 286151 broad.mit.edu 37 8 101154000 101154000 + Missense_Mutation SNP G G C TCGA-05-4434-01A-01D-1265-08 TCGA-05-4434-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f529778c-5968-4d87-80c0-bd14ba2311d0 934b703f-5677-4597-9bf5-b55604e1f7d9 g.chr8:101154000G>C ENST00000428847.2 - 2 798 c.482C>G c.(481-483)tCt>tGt p.S161C NM_001029860.3 NP_001025031.2 Q4G163 FBX43_HUMAN F-box protein 43 161 meiosis zinc ion binding p.S127C(2)|p.S161C(1) endometrium(1)|kidney(4)|large_intestine(5)|lung(14)|prostate(1)|skin(5)|urinary_tract(1) 31 all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798) Epithelial(11;1.17e-09)|all cancers(13;1.34e-07)|OV - Ovarian serous cystadenocarcinoma(57;3.82e-05)|STAD - Stomach adenocarcinoma(118;0.0957) AAGAGCGAAAGATACATTCAA 0.348000 17 282 0 0 0.038395 0 0 SLC5A1 6523 broad.mit.edu 37 22 32445957 32445957 + Missense_Mutation SNP G G C TCGA-05-4434-01A-01D-1265-08 TCGA-05-4434-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f529778c-5968-4d87-80c0-bd14ba2311d0 934b703f-5677-4597-9bf5-b55604e1f7d9 g.chr22:32445957G>C ENST00000266088.4 + 2 413 c.163G>C c.(163-165)Gtt>Ctt p.V55L NM_000343.3 NP_000334.1 P13866 SC5A1_HUMAN solute carrier family 5 (sodium/glucose cotransporter), member 1 55 carbohydrate metabolic process integral to plasma membrane glucose:sodium symporter activity|protein binding p.V55L(1) NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1) 37 TCGTGGGACTGTTGGAGGCTT 0.468000 68 248 0 0 0.048971 0 0 ABCA7 10347 broad.mit.edu 37 19 1063563 1063563 + Silent SNP G G A TCGA-05-4434-01A-01D-1265-08 TCGA-05-4434-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f529778c-5968-4d87-80c0-bd14ba2311d0 934b703f-5677-4597-9bf5-b55604e1f7d9 g.chr19:1063563G>A ENST00000263094.6 + 43 5964 c.5733G>A c.(5731-5733)gcG>gcA p.A1911A ABCA7_ENST00000433129.1_Silent_p.A1911A|ABCA7_ENST00000435683.2_Silent_p.A1773A NM_019112.3 NP_061985.2 Q8IZY2 ABCA7_HUMAN ATP-binding cassette, sub-family A (ABC1), member 7 1911 ABC transporter 2. phagocytosis|transmembrane transport ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane ATP binding|ATPase activity|transporter activity p.A1911A(1) NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 65 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CGGGCCTGGCGCGTCTGGGAC 0.667000 4 41 0 0 0.009096 0 0 ALDH1A3 220 broad.mit.edu 37 15 101433167 101433167 + Missense_Mutation SNP T T A TCGA-05-4434-01A-01D-1265-08 TCGA-05-4434-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f529778c-5968-4d87-80c0-bd14ba2311d0 934b703f-5677-4597-9bf5-b55604e1f7d9 g.chr15:101433167T>A ENST00000329841.5 + 5 1025 c.493T>A c.(493-495)Ttc>Atc p.F165I ALDH1A3_ENST00000346623.6_Intron NM_000693.2 NP_000684.2 P47895 AL1A3_HUMAN aldehyde dehydrogenase 1 family, member A3 165 retinal metabolic process cytoplasm aldehyde dehydrogenase|protein homodimerization activity p.F165I(1) NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(7)|lung(9)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1) 27 Lung NSC(78;0.00144)|all_lung(78;0.0018)|Melanoma(26;0.00852) OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103) NADH(DB00157)|Vitamin A(DB00162) CGTCGTGTGCTTCACCAGGCA 0.493000 29 86 0 0 0.045705 0 0 C3orf17 25871 broad.mit.edu 37 3 112727277 112727277 + Splice_Site SNP C C T TCGA-05-4434-01A-01D-1265-08 TCGA-05-4434-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f529778c-5968-4d87-80c0-bd14ba2311d0 934b703f-5677-4597-9bf5-b55604e1f7d9 g.chr3:112727277C>T ENST00000314400.5 - 8 1167 c.975_splice c.e8-1 p.E326_splice C3orf17_ENST00000383675.2_Splice_Site_p.E256_splice|C3orf17_ENST00000393857.2_Splice_Site_p.E190_splice|C3orf17_ENST00000472762.1_5'UTR NM_015412.3 NP_056227.2 Q6NW34 CC017_HUMAN chromosome 3 open reading frame 17 326 integral to membrane p.E326K(1) central_nervous_system(1)|endometrium(1)|kidney(2)|lung(6)|prostate(2)|skin(1) 13 AAACTGGTCTCCTGAAACGTG 0.328000 22 107 0 0 0.083992 0 0 STAC3 246329 broad.mit.edu 37 12 57641974 57641974 + Missense_Mutation SNP C C A TCGA-05-4434-01A-01D-1265-08 TCGA-05-4434-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f529778c-5968-4d87-80c0-bd14ba2311d0 934b703f-5677-4597-9bf5-b55604e1f7d9 g.chr12:57641974C>A ENST00000332782.2 - 5 641 c.440G>T c.(439-441)gGt>gTt p.G147V STAC3_ENST00000546246.2_5'UTR|STAC3_ENST00000554578.1_Missense_Mutation_p.G108V NM_145064.1 NP_659501.1 Q96MF2 STAC3_HUMAN SH3 and cysteine rich domain 3 147 intracellular signal transduction identical protein binding|metal ion binding p.G147V(1) breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(2)|skin(1) 18 CCGATGGAAACCAGGTGGCTG 0.498000 44 97 1.00953e-15 1.11195e-15 0.045515 1 0 CD72 971 broad.mit.edu 37 9 35616193 35616193 + Silent SNP G G C TCGA-05-4434-01A-01D-1265-08 TCGA-05-4434-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f529778c-5968-4d87-80c0-bd14ba2311d0 934b703f-5677-4597-9bf5-b55604e1f7d9 g.chr9:35616193G>C ENST00000396757.1 - 6 599 c.435C>G c.(433-435)ctC>ctG p.L145L CD72_ENST00000490239.1_5'UTR|CD72_ENST00000378431.1_3'UTR|CD72_ENST00000259633.4_Silent_p.L145L P21854 CD72_HUMAN CD72 molecule 145 axon guidance|cell adhesion integral to plasma membrane receptor binding|sugar binding|transmembrane receptor activity p.L145L(1) large_intestine(5)|liver(1)|lung(6) 12 Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194) GCGTTATCTTGAGGCGGAGCT 0.577000 10 99 0 0 0.080935 0 0 CHN1 1123 broad.mit.edu 37 2 175742790 175742790 + Silent SNP G G A TCGA-05-4434-01A-01D-1265-08 TCGA-05-4434-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f529778c-5968-4d87-80c0-bd14ba2311d0 934b703f-5677-4597-9bf5-b55604e1f7d9 g.chr2:175742790G>A ENST00000409900.3 - 6 640 c.327C>T c.(325-327)cgC>cgT p.R109R CHN1_ENST00000409156.3_Silent_p.R109R|CHN1_ENST00000488080.1_Intron NM_001822.5 NP_001813.1 P15882 CHIN_HUMAN chimerin 1 109 SH2. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity p.R109R(1) NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 18 OV - Ovarian serous cystadenocarcinoma(117;0.226) TGGACTCAAAGCGTTTCTCCC 0.418000 T TAF15 extraskeletal myxoid chondrosarcoma 8 77 0 0 0.047766 0 0 CCDC116 164592 broad.mit.edu 37 22 21988400 21988400 + Silent SNP C C T TCGA-05-4434-01A-01D-1265-08 TCGA-05-4434-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f529778c-5968-4d87-80c0-bd14ba2311d0 934b703f-5677-4597-9bf5-b55604e1f7d9 g.chr22:21988400C>T ENST00000292779.3 + 3 323 c.162C>T c.(160-162)agC>agT p.S54S NM_152612.2 NP_689825.2 Q8IYX3 CC116_HUMAN coiled-coil domain containing 116 54 p.S54S(1) endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(5) 22 Colorectal(54;0.105) CATGTGGCAGCTCAGCACTCC 0.612000 11 69 0 0 0.020292 0 0 PCDHB7 56129 broad.mit.edu 37 5 140554534 140554534 + Silent SNP C C T TCGA-05-4434-01A-01D-1265-08 TCGA-05-4434-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f529778c-5968-4d87-80c0-bd14ba2311d0 934b703f-5677-4597-9bf5-b55604e1f7d9 g.chr5:140554534C>T ENST00000231137.3 + 1 2292 c.2118C>T c.(2116-2118)ttC>ttT p.F706F NM_018940.2 NP_061763.1 Q9Y5E2 PCDB7_HUMAN 706 calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.F706F(1) NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1) 119 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TGCTCCTGTTCGTGGCGGTGC 0.692000 10 352 0 0 0.062417 0 0 TEX2 55852 broad.mit.edu 37 17 62230409 62230409 + Silent SNP C C T TCGA-05-4434-01A-01D-1265-08 TCGA-05-4434-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f529778c-5968-4d87-80c0-bd14ba2311d0 934b703f-5677-4597-9bf5-b55604e1f7d9 g.chr17:62230409C>T ENST00000258991.3 - 10 3141 c.3057G>A c.(3055-3057)aaG>aaA p.K1019K TEX2_ENST00000583097.1_Silent_p.K1012K|TEX2_ENST00000584379.1_Silent_p.K1012K|TEX2_ENST00000581812.1_5'UTR Q8IWB9 TEX2_HUMAN testis expressed 2 1012 signal transduction|sphingolipid metabolic process integral to membrane p.K1019K(1) breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 BRCA - Breast invasive adenocarcinoma(8;1.33e-10) READ - Rectum adenocarcinoma(1115;0.0689) CTTCTTCGATCTTCTTTTTAA 0.418000 10 76 0 0 0.058154 0 0 GCSHP3 100329109 broad.mit.edu 37 2 206981155 206981155 + RNA DEL C C - rs71410864 TCGA-05-4434-01A-01D-1265-08 TCGA-05-4434-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f529778c-5968-4d87-80c0-bd14ba2311d0 934b703f-5677-4597-9bf5-b55604e1f7d9 g.chr2:206981155delC ENST00000453039.1 + 0 885 NR_033248.1 AGGCAGGGCGCGGCAGGTGCC 0.627 5 3 --- --- --- --- ABHD14B 84836 broad.mit.edu 37 3 52003555 52003564 + Frame_Shift_Del DEL GCTTCAGGTG GCTTCAGGTG - rs148406733 byFrequency TCGA-05-4434-01A-01D-1265-08 TCGA-05-4434-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f529778c-5968-4d87-80c0-bd14ba2311d0 934b703f-5677-4597-9bf5-b55604e1f7d9 g.chr3:52003555_52003564delGCTTCAGGTG ENST00000315877.10 - 6 1198_1207 c.505_514delCACCTGAAGC c.(505-516)agfs p.HLKQ169fs ABHD14B_ENST00000525795.1_Frame_Shift_Del_p.HLKQ171fs|RP11-155D18.12_ENST00000488257.1_RNA|ABHD14B_ENST00000487005.1_5'UTR|ABHD14B_ENST00000483233.1_Frame_Shift_Del_p.HLKQ171fs|ABHD14B_ENST00000395008.2_Frame_Shift_Del_p.HLKQ171fs|ABHD14B_ENST00000361143.5_Frame_Shift_Del_p.HLKQ171fs|ABHD14B_ENST00000461108.1_3'UTR Q96IU4 ABHEB_HUMAN abhydrolase domain containing 14B 171 cytoplasm|nucleus hydrolase activity large_intestine(2)|lung(1) 3 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000548)|KIRC - Kidney renal clear cell carcinoma(197;0.00072) TTGGGCAGCTGCTTCAGGTGCTCAAAGCTG 0.595 7 204 --- --- --- --- PRRC2A 7916 broad.mit.edu 37 6 31605327 31605328 + Frame_Shift_Ins INS - - G TCGA-05-4434-01A-01D-1265-08 TCGA-05-4434-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f529778c-5968-4d87-80c0-bd14ba2311d0 934b703f-5677-4597-9bf5-b55604e1f7d9 g.chr6:31605327_31605328insG ENST00000376033.2 + 31 6672_6673 c.6438_6439insG c.(6436-6441)cggggafs p.RG2146fs PRRC2A_ENST00000376007.4_Frame_Shift_Ins_p.RG2146fs NM_004638.3 NP_004629.3 P48634 PRC2A_HUMAN proline-rich coiled-coil 2A 2146 cytoplasm|nucleus protein binding breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 70 CTGGGTCCCGAGGGGACAAGGA 0.634 10 77 --- --- --- --- PHACTR2 9749 broad.mit.edu 37 6 144086413 144086414 + Frame_Shift_Ins INS - - A TCGA-05-4434-01A-01D-1265-08 TCGA-05-4434-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f529778c-5968-4d87-80c0-bd14ba2311d0 934b703f-5677-4597-9bf5-b55604e1f7d9 g.chr6:144086413_144086414insA ENST00000427704.2 + 6 807_808 c.677_678insA c.(676-678)taafs p.*226fs PHACTR2_ENST00000305766.6_Frame_Shift_Ins_p.*146fs|PHACTR2_ENST00000367584.4_Frame_Shift_Ins_p.*214fs|PHACTR2_ENST00000367582.3_Frame_Shift_Ins_p.*157fs|PHACTR2_ENST00000440869.2_Frame_Shift_Ins_p.*237fs NM_001100166.1|NM_014721.2 NP_001093636.1|NP_055536.2 O75167 PHAR2_HUMAN phosphatase and actin regulator 2 226 actin binding|protein phosphatase inhibitor activity NS(3)|breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2) 30 OV - Ovarian serous cystadenocarcinoma(155;1.58e-05)|GBM - Glioblastoma multiforme(68;0.0386) TCCTCTCATTCAAAAAAAACAA 0.396 7 246 --- --- --- --- KMT2C 58508 broad.mit.edu 37 7 151896444 151896445 + Frame_Shift_Del DEL TT TT - TCGA-05-4434-01A-01D-1265-08 TCGA-05-4434-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f529778c-5968-4d87-80c0-bd14ba2311d0 934b703f-5677-4597-9bf5-b55604e1f7d9 g.chr7:151896444_151896445delTT ENST00000355193.2 - 27 4410_4411 c.4192_4193delAA c.(4192-4194)cfs p.N1398fs KMT2C_ENST00000262189.6_Frame_Shift_Del_p.N1398fs lysine (K)-specific methyltransferase 2C TGTGTTCATGTTTGTTTTATAT 0.371 8 37 --- --- --- --- NCOA2 10499 broad.mit.edu 37 8 71126235 71126235 + Frame_Shift_Del DEL A A - TCGA-05-4434-01A-01D-1265-08 TCGA-05-4434-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f529778c-5968-4d87-80c0-bd14ba2311d0 934b703f-5677-4597-9bf5-b55604e1f7d9 g.chr8:71126235delA ENST00000452400.2 - 4 343 c.162delT c.(160-162)ttfs p.F54fs NM_006540.2 NP_006531.1 Q15596 NCOA2_HUMAN nuclear receptor coactivator 2 54 cellular lipid metabolic process|transcription, DNA-dependent nucleoplasm histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity PAX3/NCOA2(4)|HEY1/NCOA2(10) NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4) 60 Breast(64;0.201) Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606) TAAAATTTGCAAAAATCAACT 0.303 T """RUNXBP2, HEY1""" """AML, Chondrosarcoma""" 8 32 --- --- --- --- MAFA 389692 broad.mit.edu 37 8 144511954 144511956 + In_Frame_Del DEL TGG TGG - TCGA-05-4434-01A-01D-1265-08 TCGA-05-4434-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f529778c-5968-4d87-80c0-bd14ba2311d0 934b703f-5677-4597-9bf5-b55604e1f7d9 g.chr8:144511954_144511956delTGG ENST00000333480.2 - 1 620_622 c.621_623delCCA c.(619-624)cat>ca p.HH207del MAFA_ENST00000528185.1_5'UTR NM_201589.3 NP_963883.2 Q8NHW3 MAFA_HUMAN v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog A 207 His-rich. insulin secretion|nitric oxide mediated signal transduction|response to glucose stimulus nucleus protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.H208delH(3) breast(1)|lung(1)|upper_aerodigestive_tract(2) 4 all_cancers(97;7.39e-11)|all_epithelial(106;5.44e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155) Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.237) CGCGCCGCCAtggtggtggtggt 0.744 HNSCC(29;0.082) 2 4 --- --- --- --- PPP1CA 5499 broad.mit.edu 37 11 67166623 67166623 + Frame_Shift_Del DEL C C - TCGA-05-4434-01A-01D-1265-08 TCGA-05-4434-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f529778c-5968-4d87-80c0-bd14ba2311d0 934b703f-5677-4597-9bf5-b55604e1f7d9 g.chr11:67166623delC ENST00000376745.4 - 5 683 c.535delG c.(535-537)acfs p.D179fs PPP1CA_ENST00000312989.7_Frame_Shift_Del_p.D190fs|PPP1CA_ENST00000532446.1_5'UTR|PPP1CA_ENST00000358239.4_Frame_Shift_Del_p.D135fs NM_001008709.1|NM_002708.3 NP_001008709.1|NP_002699.1 P62136 PP1A_HUMAN protein phosphatase 1, catalytic subunit, alpha isozyme 179 cell cycle|cell division|glycogen metabolic process|protein dephosphorylation|triglyceride catabolic process cytosol|MLL5-L complex|nucleolus|PTW/PP1 phosphatase complex metal ion binding|protein binding|protein phosphatase type 1 regulator activity|protein serine/threonine phosphatase activity breast(1)|lung(2)|pancreas(1)|urinary_tract(3) 7 BRCA - Breast invasive adenocarcinoma(15;8.53e-07) GACTGCAGGTCCGGGGACAGG 0.622 10 62 --- --- --- --- ERBB2 2064 broad.mit.edu 37 17 37880997 37880998 + In_Frame_Ins INS - - TAT rs144434331 TCGA-05-4434-01A-01D-1265-08 TCGA-05-4434-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f529778c-5968-4d87-80c0-bd14ba2311d0 934b703f-5677-4597-9bf5-b55604e1f7d9 g.chr17:37880997_37880998insTAT ENST00000406381.2 + 22 2746_2747 c.2236_2237insTAT c.(2236-2238)tgt>TATtgt p.745_746insY ERBB2_ENST00000584601.1_In_Frame_Ins_p.745_746insY|ERBB2_ENST00000269571.5_In_Frame_Ins_p.775_776insY|ERBB2_ENST00000584450.1_In_Frame_Ins_p.775_776insY|ERBB2_ENST00000541774.1_In_Frame_Ins_p.760_761insY|ERBB2_ENST00000445658.2_In_Frame_Ins_p.499_500insY|ERBB2_ENST00000540147.1_In_Frame_Ins_p.745_746insY NM_001005862.1 NP_001005862.1 P04626 ERBB2_HUMAN v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2 775 Protein kinase. cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity p.A775_G776insYVMA(10)|p.G776>VC(9)|p.G776>LC(3)|p.G776V(2)|p.G776S(2)|p.G776C(1) NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4) 247 all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052) Ovarian(249;0.0547)|Colorectal(1115;0.234) UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171) UCEC - Uterine corpus endometrioid carcinoma (308;0.0767) Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072) CGTGATGGCTGGTGTGGGCTCC 0.579 1 """A, Mis, O""" """breast, ovarian, other tumour types, NSCLC, gastric""" TCGA GBM(5;<1E-08) 19 76 --- --- --- --- KDM5C 8242 broad.mit.edu 37 X 53225159 53225159 + Frame_Shift_Del DEL T T - TCGA-05-4434-01A-01D-1265-08 TCGA-05-4434-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f529778c-5968-4d87-80c0-bd14ba2311d0 934b703f-5677-4597-9bf5-b55604e1f7d9 g.chrX:53225159delT ENST00000452825.3 - 18 3390 c.2858delA c.(2857-2859)cgfs p.Q953fs KDM5C_ENST00000404049.3_Frame_Shift_Del_p.Q1019fs|KDM5C_ENST00000375383.3_Frame_Shift_Del_p.Q979fs|KDM5C_ENST00000375379.3_Frame_Shift_Del_p.Q1020fs|KDM5C_ENST00000375401.3_Frame_Shift_Del_p.Q1020fs NM_001146702.1 NP_001140174.1 P41229 KDM5C_HUMAN lysine (K)-specific demethylase 5C 1020 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2) 82 CTTGAGAGCCTGGATGTTGGG 0.542 """N, F, S""" clear cell renal carcinoma 13 28 --- --- --- --- SLC6A14 11254 broad.mit.edu 37 X 115584241 115584241 + Frame_Shift_Del DEL T T - TCGA-05-4434-01A-01D-1265-08 TCGA-05-4434-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx f529778c-5968-4d87-80c0-bd14ba2311d0 934b703f-5677-4597-9bf5-b55604e1f7d9 g.chrX:115584241delT ENST00000371900.4 + 9 1307 c.1219delT c.(1219-1221)ttfs p.F407fs NM_007231.3 NP_009162.1 Q9UN76 S6A14_HUMAN solute carrier family 6 (amino acid transporter), member 14 407 cellular amino acid metabolic process|response to toxin integral to membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 23 L-Proline(DB00172) AGGTGGTCCATTTTGGTCCAT 0.368 7 141 --- --- --- ---