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 MFAP3L 9848 broad.mit.edu 37 4 170913279 170913279 + Silent SNP G G A TCGA-BJ-A0ZE-01A-11D-A10S-08 TCGA-BJ-A0ZE-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 351bea69-3247-4c7f-914f-72722a03545b a9dbff9f-6e45-4f3f-939d-34c7a4a29b3f g.chr4:170913279G>A uc003isp.4 - 2 658 c.480C>T c.(478-480)gcC>gcT p.A160A MFAP3L_uc003isn.4_Silent_p.A57A|MFAP3L_uc021xuj.1_Silent_p.A57A NM_021647 NP_001009554 O75121 MFA3L_HUMAN Homo sapiens microfibrillar-associated protein 3-like (MFAP3L), transcript variant 1, mRNA. 160 integral to membrane|plasma membrane cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 22 Prostate(90;0.00601)|Renal(120;0.0183)|all_neural(102;0.122)|Melanoma(52;0.17) GBM - Glioblastoma multiforme(119;0.0201)|LUSC - Lung squamous cell carcinoma(193;0.116) CGATGGTGAAGGCCACCAGGC 0.512000 7 159 0 0 1 0 0 SCN9A 6335 broad.mit.edu 37 2 167055182 167055182 + Nonstop_Mutation SNP C C G TCGA-BJ-A0ZE-01A-11D-A10S-08 TCGA-BJ-A0ZE-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 351bea69-3247-4c7f-914f-72722a03545b a9dbff9f-6e45-4f3f-939d-34c7a4a29b3f g.chr2:167055182C>G uc010fpl.3 - 26 6275 c.5934G>C c.(5932-5934)taG>taC p.*1978Y BC051759_uc002udp.3_Intron NM_002977 NP_002968 Q15858 SCN9A_HUMAN Homo sapiens sodium channel, voltage-gated, type IX, alpha subunit (SCN9A), mRNA. 0 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 108 Lamotrigine(DB00555)|Lidocaine(DB00281) AAATGAAGCTCTATTTTTTGC 0.318000 11 17 0 0 1 0 0 ANKRD42 338699 broad.mit.edu 37 11 82959006 82959006 + Missense_Mutation SNP C C T TCGA-BJ-A0ZE-01A-11D-A10S-08 TCGA-BJ-A0ZE-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 351bea69-3247-4c7f-914f-72722a03545b a9dbff9f-6e45-4f3f-939d-34c7a4a29b3f g.chr11:82959006C>T uc001ozz.1 + 9 1555 c.1133C>T c.(1132-1134)gCc>gTc p.A378V ANKRD42_uc010rsv.1_Silent_p.G448G|ANKRD42_uc001paa.3_Silent_p.G448G|ANKRD42_uc001pab.1_Silent_p.G447G NM_182603 NP_872409 Q8N9B4 ANR42_HUMAN Homo sapiens ankyrin repeat domain 42 (ANKRD42), mRNA. 378 central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 18 AACTGCAGGGCCAGCTGGAGT 0.343000 3 38 0 0 1 0 0 KRAS 3845 broad.mit.edu 37 12 25380276 25380276 + Missense_Mutation SNP T T C rs121913240 TCGA-BJ-A0ZE-01A-11D-A10S-08 TCGA-BJ-A0ZE-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 351bea69-3247-4c7f-914f-72722a03545b a9dbff9f-6e45-4f3f-939d-34c7a4a29b3f g.chr12:25380276T>C uc001rgp.1 - 2 363 c.182A>G c.(181-183)cAa>cGa p.Q61R KRAS_uc001rgq.1_Missense_Mutation_p.Q61R NM_033360 NP_203524 P01116 RASK_HUMAN Homo sapiens v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog (KRAS), transcript variant a, mRNA. 61 Q -> H (in lung carcinoma; dbSNP:rs17851045).|Q -> R (in a colorectal cancer sample; somatic mutation). Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway plasma membrane GTP binding|GTPase activity|protein binding p.Q61H(208)|p.Q61L(144)|p.Q61R(112)|p.Q61K(32)|p.Q61P(24)|p.Q61E(10)|p.G60D(2)|p.G60V(1)|p.Q61D(1)|p.G60G(1)|p.G60A(1) UBE2L3/KRAS(2) NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57) 25349 all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12) OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05) GTACTCCTCTTGACCTGCTGT 0.418000 Q61L(NCIH650_LUNG)|Q61L(SW948_LARGE_INTESTINE)|Q61R(PANC0213_PANCREAS) 119 Mis """pancreatic, colorectal, lung, thyroid, AML, others""" Noonan syndrome;Cardiofaciocutaneous syndrome TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6) 34 76 0 0 1 0 0 RPUSD1 113000 broad.mit.edu 37 16 837367 837367 + Missense_Mutation SNP G G A TCGA-BJ-A0ZE-01A-11D-A10S-08 TCGA-BJ-A0ZE-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 351bea69-3247-4c7f-914f-72722a03545b a9dbff9f-6e45-4f3f-939d-34c7a4a29b3f g.chr16:837367G>A uc002cka.3 - 1 527 c.293C>T c.(292-294)gCt>gTt p.A98V RPUSD1_uc002ckb.3_Missense_Mutation_p.A98V|CHTF18_uc010uus.1_5'Flank|CHTF18_uc010bre.1_5'Flank|CHTF18_uc002cke.4_5'Flank|CHTF18_uc002ckf.4_5'Flank|CHTF18_uc010brf.3_5'Flank|CHTF18_uc002ckg.4_5'Flank NM_058192 NP_478072 Q9UJJ7 RUSD1_HUMAN Homo sapiens RNA pseudouridylate synthase domain containing 1 (RPUSD1), mRNA. 98 pseudouridine synthesis RNA binding|pseudouridine synthase activity endometrium(3)|lung(2)|skin(2) 7 Hepatocellular(780;0.00335) TGCCAGGTAAGCCTTGGTCAC 0.657000 8 14 0 0 1 0 0 APOBEC3F 200316 broad.mit.edu 37 22 39475061 39475061 + Missense_Mutation SNP C C A TCGA-BJ-A0ZE-01A-11D-A10S-08 TCGA-BJ-A0ZE-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 351bea69-3247-4c7f-914f-72722a03545b a9dbff9f-6e45-4f3f-939d-34c7a4a29b3f g.chr22:39475061C>A uc021wpr.1 + 1 435 c.142C>A c.(142-144)Cct>Act p.P48T APOBEC3F_uc003awx.3_Missense_Mutation_p.P48T|APOBEC3F_uc003awy.3_5'Flank NM_021822 NP_068594 Q9HC16 ABC3G_HUMAN Homo sapiens apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3G (APOBEC3G), mRNA. 48 DNA cytosine deamination|base conversion or substitution editing|innate immune response|interspecies interaction between organisms|negative regulation of retroviral genome replication|negative regulation of transposition|positive regulation of defense response to virus by host|response to virus|viral reproduction apolipoprotein B mRNA editing enzyme complex|cytosol|mitochondrion RNA binding|cytidine deaminase activity|dCTP deaminase activity|protein homodimerization activity|zinc ion binding breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|skin(2) 16 Melanoma(58;0.04) CTCAAGGCCCCCTTTGGACGC 0.507000 3 51 0 0 1 0 0 ADM 133 broad.mit.edu 37 11 10327267 10327267 + Missense_Mutation SNP C C T TCGA-BJ-A0ZE-01A-11D-A10S-08 TCGA-BJ-A0ZE-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 351bea69-3247-4c7f-914f-72722a03545b a9dbff9f-6e45-4f3f-939d-34c7a4a29b3f g.chr11:10327267C>T uc001mil.1 + 1 176 c.20C>T c.(19-21)gCc>gTc p.A7V NM_001124 NP_001115 P35318 ADML_HUMAN Homo sapiens adrenomedullin (ADM), mRNA. 7 blood circulation|cAMP biosynthetic process|female pregnancy|negative regulation of vasoconstriction|progesterone biosynthetic process|response to wounding cytoplasm|extracellular space|soluble fraction hormone activity central_nervous_system(1)|large_intestine(2)|lung(2)|ovary(1) 6 all cancers(16;3.51e-65)|Epithelial(150;1.52e-62)|BRCA - Breast invasive adenocarcinoma(625;0.0257) GTTTCCGTCGCCCTGATGTAC 0.642000 43 56 0 0 1 0 0 HLA-DMA 3108 broad.mit.edu 37 6 32917464 32917464 + Silent SNP G G A TCGA-BJ-A0ZE-01A-11D-A10S-08 TCGA-BJ-A0ZE-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 351bea69-3247-4c7f-914f-72722a03545b a9dbff9f-6e45-4f3f-939d-34c7a4a29b3f g.chr6:32917464G>A uc003ocm.2 - 2 662 c.576C>T c.(574-576)ttC>ttT p.F192F HLA-DMA_uc011dqm.1_3'UTR NM_006120 NP_006111 Q31604 Q31604_HUMAN Homo sapiens major histocompatibility complex, class II, DM alpha (HLA-DMA), mRNA. 192 MHC class II protein complex|integral to membrane kidney(1)|large_intestine(2)|lung(8) 11 GTTCTGGTGTGAAGTTTAAGT 0.478000 4 102 0 0 1 0 0 ABCF1 23 broad.mit.edu 37 6 30553911 30553911 + Splice_Site SNP G G C TCGA-BJ-A0ZE-01A-11D-A10S-08 TCGA-BJ-A0ZE-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 351bea69-3247-4c7f-914f-72722a03545b a9dbff9f-6e45-4f3f-939d-34c7a4a29b3f g.chr6:30553911G>C uc003nql.3 + 18 1809 c.1714_splice c.e18-1 p.E572_splice ABCF1_uc003nqm.3_Splice_Site_p.E534_splice NM_001025091 NP_001020262 Q8NE71 ABCF1_HUMAN Homo sapiens ATP-binding cassette, sub-family F (GCN20), member 1 (ABCF1), transcript variant 1, mRNA. 572 inflammatory response|translational initiation nuclear envelope|nucleoplasm|polysomal ribosome ATP binding|ATPase activity|protein binding|ribosome binding|translation activator activity|translation factor activity, nucleic acid binding breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|skin(2) 21 TCCTCTCCAGGAAAAACAAAC 0.552000 29 40 0 0 1 0 0 MITF 4286 broad.mit.edu 37 3 69987187 69987187 + Missense_Mutation SNP A A G TCGA-BJ-A0ZE-01A-11D-A10S-08 TCGA-BJ-A0ZE-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 351bea69-3247-4c7f-914f-72722a03545b a9dbff9f-6e45-4f3f-939d-34c7a4a29b3f g.chr3:69987187A>G uc003dnz.3 + 2 732 c.569A>G c.(568-570)aAc>aGc p.N190S MITF_uc011bgb.2_Missense_Mutation_p.N138S|MITF_uc003doa.3_Missense_Mutation_p.N189S|MITF_uc003dob.3_Missense_Mutation_p.N174S|MITF_uc021xam.1_Intron|MITF_uc003doe.3_Missense_Mutation_p.N83S|MITF_uc003dof.3_Missense_Mutation_p.N83S|MITF_uc021xal.1_Missense_Mutation_p.N83S NM_198159 NP_001171896 O75030 MITF_HUMAN Homo sapiens microphthalmia-associated transcription factor (MITF), transcript variant 1, mRNA. 190 melanocyte differentiation|multicellular organismal development|protein complex assembly nucleus|protein complex DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|protein binding NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(6)|stomach(1)|urinary_tract(2) 30 Lung NSC(201;0.0384)|Prostate(884;0.0526) BRCA - Breast invasive adenocarcinoma(55;3.07e-05)|Epithelial(33;0.000138)|LUSC - Lung squamous cell carcinoma(21;0.008)|Lung(16;0.0107)|KIRC - Kidney renal clear cell carcinoma(39;0.204)|Kidney(39;0.239) CTTAACTCCAACTGTGAAAAA 0.488000 A melanoma """Waardenburg syndrome type 2, Tietz syndrome""" 41 70 0 0 1 0 0 KIAA0895L 653319 broad.mit.edu 37 16 67213988 67213988 + Missense_Mutation SNP C C T TCGA-BJ-A0ZE-01A-11D-A10S-08 TCGA-BJ-A0ZE-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 351bea69-3247-4c7f-914f-72722a03545b a9dbff9f-6e45-4f3f-939d-34c7a4a29b3f g.chr16:67213988C>T uc002ert.3 - 1 1361 c.526G>A c.(526-528)Gtg>Atg p.V176M KIAA0895L_uc002err.3_5'Flank|KIAA0895L_uc002ers.3_5'Flank|KIAA0895L_uc002eru.3_Missense_Mutation_p.V176M|EXOC3L1_uc002erv.1_Non-coding_Transcript NM_001040715 NP_001035805 Q68EN5 K895L_HUMAN Homo sapiens KIAA0895-like (KIAA0895L), mRNA. 176 p.V176L(2) breast(2)|endometrium(5)|kidney(2)|large_intestine(3)|lung(2)|prostate(2)|skin(1) 17 TTTTCCAGCACAGCCGTGGGC 0.582000 36 88 0 0 1 0 0 SPATS2 65244 broad.mit.edu 37 12 49890689 49890689 + Silent SNP A A G TCGA-BJ-A0ZE-01A-11D-A10S-08 TCGA-BJ-A0ZE-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 351bea69-3247-4c7f-914f-72722a03545b a9dbff9f-6e45-4f3f-939d-34c7a4a29b3f g.chr12:49890689A>G uc001rud.2 + 7 1589 c.600A>G c.(598-600)caA>caG p.Q200Q SPATS2_uc001rue.2_Non-coding_Transcript|SPATS2_uc009zli.1_Silent_p.Q200Q|SPATS2_uc001ruf.2_Silent_p.Q200Q NM_023071 NP_075559 Q86XZ4 SPAS2_HUMAN Homo sapiens spermatogenesis associated, serine-rich 2 (SPATS2), mRNA. 200 cytoplasm p.Q200*(1) breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(1)|prostate(1)|urinary_tract(4) 21 ACAATTCTCAACAACCCAGGA 0.438000 69 94 0 0 1 0 0 PTGES 9536 broad.mit.edu 37 9 132511009 132511009 + Missense_Mutation SNP G G A TCGA-BJ-A0ZE-01A-11D-A10S-08 TCGA-BJ-A0ZE-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 351bea69-3247-4c7f-914f-72722a03545b a9dbff9f-6e45-4f3f-939d-34c7a4a29b3f g.chr9:132511009G>A uc004byi.3 - 1 187 c.134C>T c.(133-135)gCc>gTc p.A45V PTGES_uc010myy.3_Non-coding_Transcript NM_004878 NP_004869 O14684 PTGES_HUMAN Homo sapiens prostaglandin E synthase (PTGES), mRNA. 45 prostaglandin biosynthetic process|signal transduction integral to membrane|membrane fraction glutathione binding|prostaglandin-E synthase activity lung(1)|skin(1) 2 Ovarian(14;0.00556) CTCGGGGTTGGCAAAGGCCTG 0.592000 3 51 0 0 1 0 0 COL3A1 1281 broad.mit.edu 37 2 189853339 189853339 + Silent SNP C C A TCGA-BJ-A0ZE-01A-11D-A10S-08 TCGA-BJ-A0ZE-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 351bea69-3247-4c7f-914f-72722a03545b a9dbff9f-6e45-4f3f-939d-34c7a4a29b3f g.chr2:189853339C>A uc002uqj.1 + 6 723 c.606C>A c.(604-606)ccC>ccA p.P202P NM_000090 NP_000081 P02461 CO3A1_HUMAN Homo sapiens collagen, type III, alpha 1 (COL3A1), mRNA. 202 Triple-helical region. axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway collagen type III|extracellular space extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3) 126 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141) Collagenase(DB00048)|Palifermin(DB00039) ACCAAGGACCCCCTGGTGAAC 0.328000 3 84 0 0 1 0 0 ATP2A2 488 broad.mit.edu 37 12 110771021 110771021 + Missense_Mutation SNP A A G TCGA-BJ-A0ZE-01A-11D-A10S-08 TCGA-BJ-A0ZE-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 351bea69-3247-4c7f-914f-72722a03545b a9dbff9f-6e45-4f3f-939d-34c7a4a29b3f g.chr12:110771021A>G uc001tqk.4 + 9 1783 c.1220A>G c.(1219-1221)tAt>tGt p.Y407C ATP2A2_uc001tql.4_Missense_Mutation_p.Y407C|ATP2A2_uc021rdt.1_Missense_Mutation_p.Y255C NM_170665 NP_733765 P16615 AT2A2_HUMAN Homo sapiens ATPase, Ca++ transporting, cardiac muscle, slow twitch 2 (ATP2A2), transcript variant b, mRNA. 407 ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane ATP binding|S100 alpha binding|calcium-transporting ATPase activity|protein C-terminus binding NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1) 38 TGTCACCAGTATGATGGTCTG 0.423000 81 126 0 0 1 0 0 ABCB7 22 broad.mit.edu 37 X 74332769 74332769 + Silent SNP A A G TCGA-BJ-A0ZE-01A-11D-A10S-08 TCGA-BJ-A0ZE-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 351bea69-3247-4c7f-914f-72722a03545b a9dbff9f-6e45-4f3f-939d-34c7a4a29b3f g.chrX:74332769A>G uc004ebz.3 - 2 313 c.288T>C c.(286-288)tgT>tgC p.C96C ABCB7_uc010nlt.3_Silent_p.C95C|ABCB7_uc004eca.3_Silent_p.C95C|ABCB7_uc011mqn.2_Silent_p.C69C|ABCB7_uc010nls.3_Silent_p.C96C NM_004299 NP_004290 O75027 ABCB7_HUMAN Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 7 (ABCB7), nuclear gene encoding mitochondrial protein, mRNA. 95 cellular iron ion homeostasis integral to membrane|mitochondrial inner membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances|heme transporter activity breast(1)|endometrium(5)|large_intestine(5)|lung(6)|ovary(2)|prostate(1) 20 GACCATGCCAACATGTCCTCT 0.438000 9 244 0 0 1 0 0 GPT 2875 broad.mit.edu 37 8 145731945 145731945 + Missense_Mutation SNP A A G TCGA-BJ-A0ZE-01A-11D-A10S-08 TCGA-BJ-A0ZE-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 351bea69-3247-4c7f-914f-72722a03545b a9dbff9f-6e45-4f3f-939d-34c7a4a29b3f g.chr8:145731945A>G uc003zdh.4 + 8 1416 c.1193A>G c.(1192-1194)aAt>aGt p.N398S MFSD3_uc003zdi.1_5'Flank NM_005309 NP_005300 P24298 ALAT1_HUMAN Homo sapiens glutamic-pyruvate transaminase (alanine aminotransferase) (GPT), mRNA. 398 gluconeogenesis cytosol 1-aminocyclopropane-1-carboxylate synthase activity|L-alanine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding central_nervous_system(1)|endometrium(1)|lung(2)|ovary(1) 5 all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055) L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114) CAGGTCTTCAATGAGGCTCCT 0.692000 5 9 0 0 1 0 0 MEN1 4221 broad.mit.edu 37 11 64575515 64575515 + Frame_Shift_Del DEL G G - TCGA-BJ-A0ZE-01A-11D-A10S-08 TCGA-BJ-A0ZE-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 351bea69-3247-4c7f-914f-72722a03545b a9dbff9f-6e45-4f3f-939d-34c7a4a29b3f g.chr11:64575515delG uc001obj.3 - 2 590 c.517delC c.(517-519)ctgfs p.L173fs MEN1_uc001obk.3_Frame_Shift_Del_p.L173fs|MEN1_uc001obl.3_Frame_Shift_Del_p.L168fs|MEN1_uc001obm.3_Frame_Shift_Del_p.L168fs|MEN1_uc001obn.3_Frame_Shift_Del_p.L173fs|MEN1_uc001obo.3_Frame_Shift_Del_p.L173fs|MEN1_uc001obq.3_Frame_Shift_Del_p.L173fs|MEN1_uc001obr.3_Frame_Shift_Del_p.L173fs NM_130800 NP_570716 O00255 MEN1_HUMAN Homo sapiens multiple endocrine neoplasia I (MEN1), transcript variant e1B, mRNA. 173 L -> P (in MEN1).|Missing (in MEN1). DNA repair|MAPKKK cascade|histone lysine methylation|negative regulation of JNK cascade|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of osteoblast differentiation|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of telomerase activity|negative regulation of transcription from RNA polymerase II promoter|osteoblast development|positive regulation of protein binding|positive regulation of transforming growth factor beta receptor signaling pathway|response to UV|response to gamma radiation|transcription, DNA-dependent chromatin|cleavage furrow|cytosol|histone methyltransferase complex|nuclear matrix|soluble fraction R-SMAD binding|Y-form DNA binding|double-stranded DNA binding|four-way junction DNA binding|protein N-terminus binding|protein binding, bridging|transcription regulatory region DNA binding p.D172V(1)|p.A167fs*10(1) NS(7)|adrenal_gland(5)|breast(2)|central_nervous_system(5)|endometrium(1)|gastrointestinal_tract_(site_indeterminate)(15)|large_intestine(2)|lung(21)|ovary(1)|pancreas(64)|parathyroid(181)|pituitary(7)|prostate(4)|retroperitoneum(1)|skin(1)|small_intestine(13)|soft_tissue(4)|stomach(1)|thymus(2) 337 CGGAGACCCAGGGCCTGGCAG 0.602 """D, Mis, N, F, S""" """parathyroid tumors, Pancreatic neuroendocrine tumors""" """parathyroid adenoma, pituitary adenoma, pancreatic islet cell, carcinoid""" Multiple Endocrine Neoplasia, type 1;Hyperparathyroidism, Familial Isolated 21 41 --- --- --- ---