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 MRPL23 6150 broad.mit.edu 37 11 1977593 1977593 + Silent SNP G G A TCGA-EL-A3GU-01A-11D-A21A-08 TCGA-EL-A3GU-11A-21D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8595cf5-599e-46e5-b5ba-33521664356a 494c10c7-1916-4269-884e-186ef3bfdc19 g.chr11:1977593G>A uc001lux.3 + 4 496 c.405G>A c.(403-405)caG>caA p.Q135Q NM_021134 NP_066957 Q16540 RM23_HUMAN Homo sapiens mitochondrial ribosomal protein L23 (MRPL23), nuclear gene encoding mitochondrial protein, mRNA. 135 translation mitochondrial large ribosomal subunit RNA binding|nucleotide binding|structural constituent of ribosome large_intestine(2)|lung(1)|ovary(1) 4 all_epithelial(84;6.24e-05)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.0026)|Lung(200;0.0171)|LUSC - Lung squamous cell carcinoma(625;0.0842) AGGAGAGGCAGCAGAGGCAGA 0.682000 4 81 0 0 1 0 0 MED31 51003 broad.mit.edu 37 17 6553677 6553677 + Splice_Site SNP A A G TCGA-EL-A3GU-01A-11D-A21A-08 TCGA-EL-A3GU-11A-21D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8595cf5-599e-46e5-b5ba-33521664356a 494c10c7-1916-4269-884e-186ef3bfdc19 g.chr17:6553677A>G uc002gdg.4 - 2 212 c.106_splice c.e2+1 p.F36_splice MED31_uc002gdh.4_Splice_Site|C17orf100_uc010clp.1_5'Flank NM_016060 NP_057144 Q9Y3C7 MED31_HUMAN Homo sapiens mediator complex subunit 31 (MED31), mRNA. 36 regulation of transcription, DNA-dependent|transcription, DNA-dependent mediator complex protein binding cervix(1)|endometrium(1)|large_intestine(1) 3 ACAACTTACAATTAAGGTAAT 0.353000 6 185 0 0 1 0 0 GALT 2592 broad.mit.edu 37 9 34647938 34647938 + Missense_Mutation SNP G G A TCGA-EL-A3GU-01A-11D-A21A-08 TCGA-EL-A3GU-11A-21D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8595cf5-599e-46e5-b5ba-33521664356a 494c10c7-1916-4269-884e-186ef3bfdc19 g.chr9:34647938G>A uc003zve.3 + 4 554 c.487G>A c.(487-489)Gcc>Acc p.A163T GALT_uc003zvf.3_Missense_Mutation_p.A54T|GALT_uc011lop.1_Missense_Mutation_p.A115T|IL11RA_uc003zvi.3_5'Flank NM_000155 NP_000146 P07902 GALT_HUMAN Homo sapiens galactose-1-phosphate uridylyltransferase (GALT), mRNA. 163 galactose catabolic process cytosol UDP-glucose:hexose-1-phosphate uridylyltransferase activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|liver(2)|lung(5)|upper_aerodigestive_tract(1) 16 all_epithelial(49;0.102) STAD - Stomach adenocarcinoma(86;0.178) GBM - Glioblastoma multiforme(74;0.173) GGAGCTGGGTGCCCAGTACCC 0.587000 Galactosemia 30 44 0 0 1 0 0 NAV1 89796 broad.mit.edu 37 1 201779154 201779154 + Silent SNP G G A TCGA-EL-A3GU-01A-11D-A21A-08 TCGA-EL-A3GU-11A-21D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8595cf5-599e-46e5-b5ba-33521664356a 494c10c7-1916-4269-884e-186ef3bfdc19 g.chr1:201779154G>A uc021phi.1 + 22 4829 c.4482G>A c.(4480-4482)gtG>gtA p.V1494V NAV1_uc001gwu.3_Silent_p.V1491V|NAV1_uc001gwx.3_Silent_p.V1100V NM_020443 NP_065176 Q8NEY1 NAV1_HUMAN Homo sapiens neuron navigator 1 (NAV1), transcript variant 1, mRNA. 1494 cell differentiation|nervous system development cytoplasm|microtubule nucleoside-triphosphatase activity|nucleotide binding breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2) 70 TCAGCCACGTGAAACGAGTGT 0.517000 15 139 0 0 1 0 0 BC018860 0 broad.mit.edu 37 MT 6984 6984 + Missense_Mutation SNP T T C TCGA-EL-A3GU-01A-11D-A21A-08 TCGA-EL-A3GU-11A-21D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8595cf5-599e-46e5-b5ba-33521664356a 494c10c7-1916-4269-884e-186ef3bfdc19 g.chrM:6984T>C uc011mfh.2 + 0 1084 c.83T>C c.(82-84)cTc>cCc p.L28P JA429830_uc022bqp.1_5'Flank|JA429831_uc022bqq.1_5'Flank|JA429505_uc022bqr.1_5'Flank|OK/SW-cl.16_uc011mfi.2_5'Flank Homo sapiens cDNA: FLJ22894 fis, clone KAT04907. TATTAGCAAACTCATCACTAG 0.453000 5 21 0 0 1 0 0 BCL9 607 broad.mit.edu 37 1 147084886 147084886 + Missense_Mutation SNP G G T TCGA-EL-A3GU-01A-11D-A21A-08 TCGA-EL-A3GU-11A-21D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8595cf5-599e-46e5-b5ba-33521664356a 494c10c7-1916-4269-884e-186ef3bfdc19 g.chr1:147084886G>T uc001epq.3 + 4 998 c.258G>T c.(256-258)aaG>aaT p.K86N BCL9_uc010ozr.1_Intron NM_004326 NP_004317 O00512 BCL9_HUMAN Homo sapiens B-cell CLL/lymphoma 9 (BCL9), mRNA. 86 Wnt receptor signaling pathway nucleus protein binding breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 7 all_hematologic(923;0.115) TGGGGCTGAAGAATGGGGCTG 0.592000 T """IGH@, IGL@""" B-ALL 20 50 0 0 1 0 0 MPDZ 8777 broad.mit.edu 37 9 13125351 13125351 + Silent SNP T T C TCGA-EL-A3GU-01A-11D-A21A-08 TCGA-EL-A3GU-11A-21D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8595cf5-599e-46e5-b5ba-33521664356a 494c10c7-1916-4269-884e-186ef3bfdc19 g.chr9:13125351T>C uc010mhy.3 - 33 4728 c.4671A>G c.(4669-4671)aaA>aaG p.K1557K MPDZ_uc003zky.4_Silent_p.K119K|MPDZ_uc010mib.3_Silent_p.K262K|MPDZ_uc010mhx.3_Silent_p.K379K|MPDZ_uc011lmm.2_Silent_p.K416K|MPDZ_uc003zkz.4_Silent_p.K250K|MPDZ_uc010mhz.3_Silent_p.K1524K|MPDZ_uc011lmn.2_Silent_p.K1524K|MPDZ_uc003zlb.4_Silent_p.K1557K|MPDZ_uc010mia.1_Silent_p.K1557K NM_003829 NP_003820 O75970 MPDZ_HUMAN Homo sapiens multiple PDZ domain protein (MPDZ), mRNA. 1557 PDZ 9. interspecies interaction between organisms apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction protein C-terminus binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2) 61 GBM - Glioblastoma multiforme(50;2.03e-06) GGATGGTAAGTTTTACTGTCA 0.443000 29 32 0 0 1 0 0 PDZD2 23037 broad.mit.edu 37 5 32089285 32089285 + Missense_Mutation SNP A A G TCGA-EL-A3GU-01A-11D-A21A-08 TCGA-EL-A3GU-11A-21D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8595cf5-599e-46e5-b5ba-33521664356a 494c10c7-1916-4269-884e-186ef3bfdc19 g.chr5:32089285A>G uc003jhl.3 + 19 6119 c.5731A>G c.(5731-5733)Acg>Gcg p.T1911A PDZD2_uc003jhm.3_Missense_Mutation_p.T1911A NM_178140 NP_835260 O15018 PDZD2_HUMAN Homo sapiens PDZ domain containing 2 (PDZD2), mRNA. 1911 cell adhesion cell-cell junction|endoplasmic reticulum|extracellular region|nucleus NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 148 GGCTGGGGGGACGGACCACAG 0.582000 3 154 0 0 1 0 0 CNRIP1 25927 broad.mit.edu 37 2 68544345 68544345 + Missense_Mutation SNP C C T rs34128476 byFrequency TCGA-EL-A3GU-01A-11D-A21A-08 TCGA-EL-A3GU-11A-21D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8595cf5-599e-46e5-b5ba-33521664356a 494c10c7-1916-4269-884e-186ef3bfdc19 g.chr2:68544345C>T uc002sek.4 - 1 925 c.274G>A c.(274-276)Gaa>Aaa p.E92K CNRIP1_uc002sej.4_Missense_Mutation_p.E92K|CNRIP1_uc010fdd.1_Missense_Mutation_p.E92K NM_015463 NP_056278 Q96F85 CNRP1_HUMAN Homo sapiens cannabinoid receptor interacting protein 1 (CNRIP1), transcript variant CRIP1a, mRNA. 92 protein binding kidney(1)|large_intestine(5)|liver(1)|lung(1)|skin(1) 9 GTCACACCTTCTGTGTCATAT 0.493000 38 72 0 0 1 0 0 HNF4A 3172 broad.mit.edu 37 20 43043255 43043255 + Missense_Mutation SNP T T A TCGA-EL-A3GU-01A-11D-A21A-08 TCGA-EL-A3GU-11A-21D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8595cf5-599e-46e5-b5ba-33521664356a 494c10c7-1916-4269-884e-186ef3bfdc19 g.chr20:43043255T>A uc002xma.3 + 4 690 c.601T>A c.(601-603)Tgg>Agg p.W201R HNF4A_uc002xlt.3_Missense_Mutation_p.W179R|HNF4A_uc002xlu.3_Missense_Mutation_p.W179R|HNF4A_uc002xlv.3_Missense_Mutation_p.W179R|HNF4A_uc002xly.3_Missense_Mutation_p.W201R|HNF4A_uc010ggq.3_Missense_Mutation_p.W194R|HNF4A_uc002xlz.3_Missense_Mutation_p.W201R NM_000457 NP_000448 P41235 HNF4A_HUMAN Homo sapiens hepatocyte nuclear factor 4, alpha (HNF4A), transcript variant 2, mRNA. 201 blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process cytoplasm RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|activating transcription factor binding|protein homodimerization activity|receptor binding|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding p.E200K(1) endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2) 34 Myeloproliferative disorder(115;0.0122) COAD - Colon adenocarcinoma(18;0.00189) TCTCGTTGAGTGGGCCAAGTA 0.622000 5 32 0 0 1 0 0 ALDH5A1 7915 broad.mit.edu 37 6 24505158 24505158 + Missense_Mutation SNP C C T TCGA-EL-A3GU-01A-11D-A21A-08 TCGA-EL-A3GU-11A-21D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8595cf5-599e-46e5-b5ba-33521664356a 494c10c7-1916-4269-884e-186ef3bfdc19 g.chr6:24505158C>T uc003nef.3 + 3 699 c.671C>T c.(670-672)aCt>aTt p.T224I ALDH5A1_uc003neg.3_Missense_Mutation_p.T224I NM_170740 NP_733936 P51649 SSDH_HUMAN Homo sapiens aldehyde dehydrogenase 5 family, member A1 (ALDH5A1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 224 acetate metabolic process|central nervous system development|galactosylceramide metabolic process|gamma-aminobutyric acid catabolic process|glucose metabolic process|glutamate metabolic process|glutamine metabolic process|glutathione metabolic process|glycerophospholipid metabolic process|neurotransmitter catabolic process|neurotransmitter secretion|protein homotetramerization|respiratory electron transport chain|short-chain fatty acid metabolic process|succinate metabolic process mitochondrial matrix|soluble fraction succinate-semialdehyde dehydrogenase activity breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(7)|skin(2)|urinary_tract(1) 20 Chlormerodrin(DB00534)|NADH(DB00157)|Succinic acid(DB00139) GCCGGCTGTACTGTCGTGGTG 0.592000 79 102 0 0 1 0 0 ZBTB49 166793 broad.mit.edu 37 4 4322849 4322849 + Missense_Mutation SNP G G A TCGA-EL-A3GU-01A-11D-A21A-08 TCGA-EL-A3GU-11A-21D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8595cf5-599e-46e5-b5ba-33521664356a 494c10c7-1916-4269-884e-186ef3bfdc19 g.chr4:4322849G>A uc003ghu.3 + 7 2279 c.2104G>A c.(2104-2106)Gaa>Aaa p.E702K ZBTB49_uc003ghv.3_Missense_Mutation_p.E185K|ZBTB49_uc010icy.3_Non-coding_Transcript|ZBTB49_uc010icz.3_Missense_Mutation_p.E280K NM_145291 NP_660334 Q6ZSB9 ZBT49_HUMAN Homo sapiens zinc finger and BTB domain containing 49 (ZBTB49), mRNA. 702 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1) 28 AGCCGGTGGCGAACCACTGCA 0.602000 3 68 0 0 1 0 0 RELT 84957 broad.mit.edu 37 11 73105583 73105583 + Missense_Mutation SNP G G A rs146155880 TCGA-EL-A3GU-01A-11D-A21A-08 TCGA-EL-A3GU-11A-21D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8595cf5-599e-46e5-b5ba-33521664356a 494c10c7-1916-4269-884e-186ef3bfdc19 g.chr11:73105583G>A uc001otv.3 + 8 1015 c.850G>A c.(850-852)Gtg>Atg p.V284M RELT_uc001otw.3_Missense_Mutation_p.V284M|RELT_uc001otx.3_Non-coding_Transcript NM_152222 NP_689408 Q969Z4 TR19L_HUMAN Homo sapiens RELT tumor necrosis factor receptor (RELT), transcript variant 2, mRNA. 284 cytoplasm|integral to membrane|plasma membrane binding|receptor activity NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1) 12 TCTCCACACCGTGCAGGGCCT 0.697000 4 146 0 0 1 0 0 ACTA1 58 broad.mit.edu 37 1 229568532 229568532 + Silent SNP G G A TCGA-EL-A3GU-01A-11D-A21A-08 TCGA-EL-A3GU-11A-21D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8595cf5-599e-46e5-b5ba-33521664356a 494c10c7-1916-4269-884e-186ef3bfdc19 g.chr1:229568532G>A uc001htm.3 - 2 330 c.225C>T c.(223-225)caC>caT p.H75H NM_001100 NP_001091 P68133 ACTS_HUMAN Homo sapiens actin, alpha 1, skeletal muscle (ACTA1), mRNA. 75 H -> L (in NEM3).|H -> R (in NEM3). muscle filament sliding|skeletal muscle fiber development|skeletal muscle thin filament assembly actin filament|cytosol|stress fiber|striated muscle thin filament ADP binding|ATP binding|myosin binding|structural constituent of cytoskeleton endometrium(4)|large_intestine(4)|lung(18)|prostate(1)|urinary_tract(1) 28 Breast(184;0.0858)|Ovarian(103;0.103) Prostate(94;0.167) Dornase Alfa(DB00003) TGATGATGCCGTGCTCGATAG 0.582000 4 200 0 0 1 0 0 SETD5 55209 broad.mit.edu 37 3 9517666 9517666 + Missense_Mutation SNP C C T TCGA-EL-A3GU-01A-11D-A21A-08 TCGA-EL-A3GU-11A-21D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8595cf5-599e-46e5-b5ba-33521664356a 494c10c7-1916-4269-884e-186ef3bfdc19 g.chr3:9517666C>T uc003brt.3 + 22 4655 c.4220C>T c.(4219-4221)gCg>gTg p.A1407V SETD5_uc003bru.3_Missense_Mutation_p.A1309V|SETD5_uc003brv.3_Missense_Mutation_p.A1296V|SETD5_uc010hck.3_Missense_Mutation_p.A889V|SETD5_uc003brx.3_Missense_Mutation_p.A1076V NM_001080517 NP_001073986 Q9C0A6 SETD5_HUMAN Homo sapiens SET domain containing 5 (SETD5), mRNA. 1407 Ser-rich. NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 Medulloblastoma(99;0.227) OV - Ovarian serous cystadenocarcinoma(96;0.112) AGGGTATCTGCGGTTTCCAAT 0.567000 15 40 0 0 1 0 0 MSI1 4440 broad.mit.edu 37 12 120794808 120794808 + Missense_Mutation SNP T T G TCGA-EL-A3GU-01A-11D-A21A-08 TCGA-EL-A3GU-11A-21D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8595cf5-599e-46e5-b5ba-33521664356a 494c10c7-1916-4269-884e-186ef3bfdc19 g.chr12:120794808T>G uc001tye.1 - 8 613 c.549A>C c.(547-549)aaA>aaC p.K183N NM_002442 NP_002433 O43347 MSI1H_HUMAN Homo sapiens musashi homolog 1 (Drosophila) (MSI1), mRNA. 183 RRM 2. nervous system development cytoplasm|nucleus nucleotide binding breast(4)|central_nervous_system(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(5)|skin(2) 19 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) TTGGCTGAGCTTTCTTACATT 0.542000 OREG0022190 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 9 55 0 0 1 0 0 TTC38 55020 broad.mit.edu 37 22 46669963 46669963 + Missense_Mutation SNP A A G TCGA-EL-A3GU-01A-11D-A21A-08 TCGA-EL-A3GU-11A-21D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8595cf5-599e-46e5-b5ba-33521664356a 494c10c7-1916-4269-884e-186ef3bfdc19 g.chr22:46669963A>G uc003bhi.3 + 3 438 c.362A>G c.(361-363)aAt>aGt p.N121S TTC38_uc011aqx.2_Missense_Mutation_p.N121S NM_017931 NP_060401 Q5R3I4 TTC38_HUMAN Homo sapiens tetratricopeptide repeat domain 38 (TTC38), mRNA. 121 binding endometrium(4)|large_intestine(3)|lung(4)|ovary(1) 12 ACATTTGCCAATGGGTGAGGG 0.632000 4 38 0 0 1 0 0 COL5A1 1289 broad.mit.edu 37 9 137721851 137721851 + Silent SNP C C T rs138396959 TCGA-EL-A3GU-01A-11D-A21A-08 TCGA-EL-A3GU-11A-21D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8595cf5-599e-46e5-b5ba-33521664356a 494c10c7-1916-4269-884e-186ef3bfdc19 g.chr9:137721851C>T uc004cfe.3 + 63 5479 c.5097C>T c.(5095-5097)aaC>aaT p.N1699N BC058547_uc004cff.3_Intron NM_000093 NP_000084 P20908 CO5A1_HUMAN Homo sapiens collagen, type V, alpha 1 (COL5A1), mRNA. 1699 Fibrillar collagen NC1. axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells collagen type V heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding p.E1698*(1) NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 115 Myeloproliferative disorder(178;0.0341) all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131) CCAAAGAAAACCCGGGCTCCT 0.537000 5 21 0 0 1 0 0 NIN 51199 broad.mit.edu 37 14 51192784 51192784 + Splice_Site SNP C C T TCGA-EL-A3GU-01A-11D-A21A-08 TCGA-EL-A3GU-11A-21D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8595cf5-599e-46e5-b5ba-33521664356a 494c10c7-1916-4269-884e-186ef3bfdc19 g.chr14:51192784C>T uc001wyi.3 - 30 6270 c.6079_splice c.e30-1 p.G2027_splice NIN_uc001wyj.3_Splice_Site|NIN_uc001wym.2_Splice_Site_p.G2027_splice|NIN_uc001wyk.3_Splice_Site_p.G1314_splice NM_020921 NP_065972 Q8N4C6 NIN_HUMAN Homo sapiens ninein (GSK3B interacting protein) (NIN), transcript variant 2, mRNA. 2027 centrosome localization centrosome|microtubule GTP binding|calcium ion binding|protein binding breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5) 71 all_epithelial(31;0.00244)|Breast(41;0.127) TCCTGGTTTCCCTGAAGGGAA 0.378000 T PDGFRB MPD 19 36 0 0 1 0 0 ATP6V0B 533 broad.mit.edu 37 1 44442971 44442971 + Missense_Mutation SNP C C T TCGA-EL-A3GU-01A-11D-A21A-08 TCGA-EL-A3GU-11A-21D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8595cf5-599e-46e5-b5ba-33521664356a 494c10c7-1916-4269-884e-186ef3bfdc19 g.chr1:44442971C>T uc001clf.3 + 5 1436 c.533C>T c.(532-534)cCt>cTt p.P178L ATP6V0B_uc001cld.3_Intron|ATP6V0B_uc001cle.3_Intron|B4GALT2_uc001clg.3_5'Flank|B4GALT2_uc001clh.3_5'Flank|B4GALT2_uc010okl.2_5'Flank Q99437 VATO_HUMAN Homo sapiens ATPase, H+ transporting, lysosomal 21kDa, V0 subunit b (ATP6V0B), transcript variant 1, mRNA. 116 ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport endosome membrane|integral to membrane|proton-transporting V-type ATPase, V0 domain|vacuolar membrane hydrogen ion transmembrane transporter activity breast(2)|kidney(1)|large_intestine(3)|lung(3) 9 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0511) AAGTGCTCTCCTTCTCTACCT 0.478000 5 9 0 0 1 0 0 MAGED2 10916 broad.mit.edu 37 X 54841926 54841926 + Silent SNP T T C TCGA-EL-A3GU-01A-11D-A21A-08 TCGA-EL-A3GU-11A-21D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8595cf5-599e-46e5-b5ba-33521664356a 494c10c7-1916-4269-884e-186ef3bfdc19 g.chrX:54841926T>C uc004dtk.1 + 11 1726 c.1632T>C c.(1630-1632)agT>agC p.S544S MAGED2_uc004dtl.1_Silent_p.S544S|MAGED2_uc004dtm.1_Silent_p.S459S|MAGED2_uc004dtn.1_Silent_p.S544S|MAGED2_uc004dto.1_Silent_p.S518S NM_177433 NP_957516 Q9UNF1 MAGD2_HUMAN Homo sapiens melanoma antigen family D, 2 (MAGED2), transcript variant 2, mRNA. 544 breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 26 CCCAAGAGAGTGGcagtgcca 0.617000 4 11 0 0 1 0 0 PRMT3 10196 broad.mit.edu 37 11 20409654 20409654 + Missense_Mutation SNP G G A TCGA-EL-A3GU-01A-11D-A21A-08 TCGA-EL-A3GU-11A-21D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8595cf5-599e-46e5-b5ba-33521664356a 494c10c7-1916-4269-884e-186ef3bfdc19 g.chr11:20409654G>A uc001mqb.3 + 1 335 c.118G>A c.(118-120)Gat>Aat p.D40N PRMT3_uc001mqc.3_Intron|PRMT3_uc010rdn.2_Intron NM_005788 NP_005779 O60678 ANM3_HUMAN Homo sapiens protein arginine methyltransferase 3 (PRMT3), transcript variant 1, mRNA. 40 zinc ion binding endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|prostate(1) 17 GGACGATGCAGATCTCCCCCA 0.677000 3 94 0 0 1 0 0 TTL 150465 broad.mit.edu 37 2 113251935 113251935 + Missense_Mutation SNP C C T TCGA-EL-A3GU-01A-11D-A21A-08 TCGA-EL-A3GU-11A-21D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8595cf5-599e-46e5-b5ba-33521664356a 494c10c7-1916-4269-884e-186ef3bfdc19 g.chr2:113251935C>T uc002thu.3 + 2 631 c.452C>T c.(451-453)tCa>tTa p.S151L NM_153712 NP_714923 Q8NG68 TTL_HUMAN Homo sapiens tubulin tyrosine ligase (TTL), mRNA. 151 TTL. protein modification process ATP binding|tubulin-tyrosine ligase activity breast(1)|large_intestine(2)|ovary(1) 4 Ovarian(717;0.024) BRCA - Breast invasive adenocarcinoma(221;6.17e-07)|STAD - Stomach adenocarcinoma(1183;0.00644) ATTGCAAAGTCATCAGCCGGT 0.428000 T ETV6 ALL 16 35 0 0 1 0 0 GRIK3 2899 broad.mit.edu 37 1 37356590 37356590 + Missense_Mutation SNP G G A TCGA-EL-A3GU-01A-11D-A21A-08 TCGA-EL-A3GU-11A-21D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8595cf5-599e-46e5-b5ba-33521664356a 494c10c7-1916-4269-884e-186ef3bfdc19 g.chr1:37356590G>A uc001caz.2 - 1 358 c.223C>T c.(223-225)Ccc>Tcc p.P75S GRIK3_uc001cba.1_Missense_Mutation_p.P75S NM_000831 NP_000822 Q13003 GRIK3_HUMAN Homo sapiens glutamate receptor, ionotropic, kainate 3 (GRIK3), mRNA. 75 negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button G-protein-coupled receptor binding|adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1) 89 Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169) L-Glutamic Acid(DB00142) GTTGTGTTGGGCAGCAGAGTC 0.527000 5 215 0 0 1 0 0 LMLN 89782 broad.mit.edu 37 3 197746190 197746190 + Silent SNP G G A TCGA-EL-A3GU-01A-11D-A21A-08 TCGA-EL-A3GU-11A-21D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8595cf5-599e-46e5-b5ba-33521664356a 494c10c7-1916-4269-884e-186ef3bfdc19 g.chr3:197746190G>A uc010iar.3 + 12 1432 c.1410G>A c.(1408-1410)caG>caA p.Q470Q LMLN_uc003fyt.3_Silent_p.Q418Q|LMLN_uc011buo.2_Silent_p.Q433Q|LMLN_uc010ias.3_Silent_p.Q381Q|LMLN_uc003fyu.3_Silent_p.Q230Q NM_001136049 NP_001129521 Q96KR4 LMLN_HUMAN Homo sapiens leishmanolysin-like (metallopeptidase M8 family) (LMLN), transcript variant 1, mRNA. 433 cell adhesion|cell division|mitosis|proteolysis cytoplasm|membrane metalloendopeptidase activity|zinc ion binding endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 25 all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976) Lung NSC(153;0.132) Epithelial(36;9.84e-24)|all cancers(36;3.18e-22)|OV - Ovarian serous cystadenocarcinoma(49;5.35e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07) GBM - Glioblastoma multiforme(93;0.111) CTTGCAGACAGGACCAGAGAG 0.488000 3 105 0 0 1 0 0 SLC1A6 6511 broad.mit.edu 37 19 15063783 15063783 + Missense_Mutation SNP G G A TCGA-EL-A3GU-01A-11D-A21A-08 TCGA-EL-A3GU-11A-21D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8595cf5-599e-46e5-b5ba-33521664356a 494c10c7-1916-4269-884e-186ef3bfdc19 g.chr19:15063783G>A uc002naa.1 - 7 1463 c.1456C>T c.(1456-1458)Ccc>Tcc p.P486S SLC1A6_uc010dzu.1_Missense_Mutation_p.P408S|SLC1A6_uc010xod.1_Missense_Mutation_p.P422S NM_005071 NP_005062 P48664 EAA4_HUMAN Homo sapiens solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6 (SLC1A6), mRNA. 486 synaptic transmission integral to plasma membrane|membrane fraction L-aspartate transmembrane transporter activity|high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 42 L-Glutamic Acid(DB00142) TCTTCCGTGGGCAAGCCGACC 0.612000 4 213 0 0 1 0 0 BSPRY 54836 broad.mit.edu 37 9 116116526 116116526 + Missense_Mutation SNP A A G TCGA-EL-A3GU-01A-11D-A21A-08 TCGA-EL-A3GU-11A-21D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8595cf5-599e-46e5-b5ba-33521664356a 494c10c7-1916-4269-884e-186ef3bfdc19 g.chr9:116116526A>G uc004bhg.4 + 1 256 c.208A>G c.(208-210)Att>Gtt p.I70V BSPRY_uc010muw.3_Missense_Mutation_p.I70V NM_017688 NP_060158 Q5W0U4 BSPRY_HUMAN Homo sapiens B-box and SPRY domain containing (BSPRY), mRNA. 70 calcium ion transport cytoplasm|membrane zinc ion binding breast(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1) 8 GCAGAACAAGATTGTGGACCA 0.507000 30 35 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-EL-A3GU-01A-11D-A21A-08 TCGA-EL-A3GU-11A-21D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8595cf5-599e-46e5-b5ba-33521664356a 494c10c7-1916-4269-884e-186ef3bfdc19 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 25 59 0 0 1 0 0 TNKS 8658 broad.mit.edu 37 8 9609296 9609296 + Missense_Mutation SNP G G A TCGA-EL-A3GU-01A-11D-A21A-08 TCGA-EL-A3GU-11A-21D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8595cf5-599e-46e5-b5ba-33521664356a 494c10c7-1916-4269-884e-186ef3bfdc19 g.chr8:9609296G>A uc003wss.3 + 18 3015 c.3010G>A c.(3010-3012)Gta>Ata p.V1004I TNKS_uc011kww.2_Missense_Mutation_p.V767I|TNKS_uc010lrt.1_Non-coding_Transcript NM_003747 NP_003738 O95271 TNKS1_HUMAN Homo sapiens tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase (TNKS), mRNA. 1004 Wnt receptor signaling pathway|mRNA transport|mitotic spindle organization|negative regulation of DNA binding|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of telomere maintenance via telomerase|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein poly-ADP-ribosylation|protein polyubiquitination|protein transport|spindle assembly|transmembrane transport Golgi membrane|chromosome, centromeric region|microsome|nuclear chromosome, telomeric region|nuclear membrane|nuclear pore|pericentriolar material NAD+ ADP-ribosyltransferase activity|protein binding|zinc ion binding NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2) 49 COAD - Colon adenocarcinoma(149;0.0467) AGAGTTGGCCGTAGGAGGAGC 0.542000 4 172 0 0 1 0 0 SLIT1 6585 broad.mit.edu 37 10 98816982 98816982 + Missense_Mutation SNP T T C TCGA-EL-A3GU-01A-11D-A21A-08 TCGA-EL-A3GU-11A-21D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8595cf5-599e-46e5-b5ba-33521664356a 494c10c7-1916-4269-884e-186ef3bfdc19 g.chr10:98816982T>C uc001kmw.2 - 11 1394 c.1142A>G c.(1141-1143)tAc>tGc p.Y381C SLIT1_uc009xvh.1_Missense_Mutation_p.Y391C NM_003061 NP_003052 O75093 SLIT1_HUMAN Homo sapiens slit homolog 1 (Drosophila) (SLIT1), mRNA. 381 axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis cytoplasm|extracellular space Roundabout binding|calcium ion binding breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 78 Colorectal(252;0.162) Epithelial(162;2.02e-08)|all cancers(201;1.5e-06) CTGTAGGGTGTATAGGCCTCC 0.572000 3 62 0 0 1 0 0 MKLN1 4289 broad.mit.edu 37 7 131073683 131073683 + Nonsense_Mutation SNP A A T TCGA-EL-A3GU-01A-11D-A21A-08 TCGA-EL-A3GU-11A-21D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8595cf5-599e-46e5-b5ba-33521664356a 494c10c7-1916-4269-884e-186ef3bfdc19 g.chr7:131073683A>T uc011kpm.2 + 3 416 c.352A>T c.(352-354)Aag>Tag p.K118* MKLN1_uc011kpl.2_Nonsense_Mutation_p.K95*|MKLN1_uc010lmh.2_Nonsense_Mutation_p.K118*|MKLN1_uc003vqs.3_5'UTR NM_013255 NP_037387 Q9UL63 MKLN1_HUMAN Homo sapiens muskelin 1, intracellular mediator containing kelch motifs (MKLN1), transcript variant 2, mRNA. 118 signal transduction cytoplasm protein binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1) 28 Melanoma(18;0.162) ATTCACCTTGAAGCATAAAAT 0.299000 9 20 0 0 1 0 0 CALCR 799 broad.mit.edu 37 7 93055811 93055811 + Missense_Mutation SNP C C T TCGA-EL-A3GU-01A-11D-A21A-08 TCGA-EL-A3GU-11A-21D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8595cf5-599e-46e5-b5ba-33521664356a 494c10c7-1916-4269-884e-186ef3bfdc19 g.chr7:93055811C>T uc003umv.2 - 15 1684 c.1384G>A c.(1384-1386)Gct>Act p.A462T CALCR_uc003umt.1_Non-coding_Transcript|CALCR_uc003ums.1_Non-coding_Transcript|CALCR_uc022ahi.1_Missense_Mutation_p.A428T|CALCR_uc003umw.2_Missense_Mutation_p.A428T NM_001164737 NP_001158209 P30988 CALCR_HUMAN Homo sapiens calcitonin receptor (CALCR), transcript variant 1, mRNA. 444 activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus integral to plasma membrane calcitonin binding|calcitonin receptor activity|protein binding p.I462I(1) NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3) 45 all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207) STAD - Stomach adenocarcinoma(171;0.000244) Salmon Calcitonin(DB00017) GCGGCTGCAGCGCGAGCAGAG 0.592000 46 88 0 0 1 0 0 JMJD1C 221037 broad.mit.edu 37 10 64967938 64967938 + Frame_Shift_Del DEL G G - TCGA-EL-A3GU-01A-11D-A21A-08 TCGA-EL-A3GU-11A-21D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8595cf5-599e-46e5-b5ba-33521664356a 494c10c7-1916-4269-884e-186ef3bfdc19 g.chr10:64967938delG uc001jmn.3 - 9 3791 c.3491delC c.(3490-3492)ccafs p.P1164fs JMJD1C_uc001jml.3_Frame_Shift_Del_p.P945fs|JMJD1C_uc001jmm.3_Frame_Shift_Del_p.P876fs|JMJD1C_uc010qiq.2_Frame_Shift_Del_p.P982fs|JMJD1C_uc009xpi.3_Frame_Shift_Del_p.P982fs|JMJD1C_uc009xpj.2_Non-coding_Transcript|JMJD1C_uc009xpk.1_Frame_Shift_Del_p.P201fs NM_032776 NP_116165 Q15652 JHD2C_HUMAN Homo sapiens jumonji domain containing 1C (JMJD1C), transcript variant 1, mRNA. 1164 blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3) 77 Prostate(12;0.0119)|all_hematologic(501;0.191) AAGATGTTCTGGTATCTTGCC 0.388 92 183 --- --- --- --- MXI1 4601 broad.mit.edu 37 10 111986020 111986020 + Frame_Shift_Del DEL T T - TCGA-EL-A3GU-01A-11D-A21A-08 TCGA-EL-A3GU-11A-21D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8595cf5-599e-46e5-b5ba-33521664356a 494c10c7-1916-4269-884e-186ef3bfdc19 g.chr10:111986020delT uc001kza.3 + 0 259 c.52delT c.(52-54)tttfs p.F18fs MXI1_uc001kyy.3_Intron|MXI1_uc001kyz.3_Intron|MXI1_uc010qrc.2_Frame_Shift_Del_p.F18fs|MXI1_uc009xxv.3_5'Flank NM_005962 NP_005953 P50539 MXI1_HUMAN Homo sapiens MAX interactor 1 (MXI1), transcript variant 1, mRNA. 18 cytoplasmic sequestering of transcription factor|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|transcription corepressor activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(1) 10 Breast(234;0.052)|Lung NSC(174;0.223) Epithelial(162;1.33e-05)|all cancers(201;0.000277)|BRCA - Breast invasive adenocarcinoma(275;0.127) GGCTGCCGAGTTTTTGGAGCG 0.677 2 4 --- --- --- ---