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 SLC39A12 221074 broad.mit.edu 37 10 18242228 18242228 + Missense_Mutation SNP C C T TCGA-DE-A4MB-01A-11D-A257-08 TCGA-DE-A4MB-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 83ea1409-56e4-4ffb-beb2-9275a70e9bb5 ca920f65-56bb-4a76-935e-ceceb4767793 g.chr10:18242228C>T ENST00000377369.2 + 2 296 c.23C>T c.(22-24)tCa>tTa p.S8L SLC39A12_ENST00000539911.1_Intron|SLC39A12_ENST00000377374.4_Missense_Mutation_p.S8L|SLC39A12_ENST00000377371.3_Missense_Mutation_p.S8L NM_001145195.1 NP_001138667.1 Q504Y0 S39AC_HUMAN solute carrier family 39 (zinc transporter), member 12 8 zinc ion transport integral to membrane metal ion transmembrane transporter activity NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 60 ACAAAGCTCTCAGTATCCTGG 0.502000 6 71 0 0 1 0 0 TIMP4 7079 broad.mit.edu 37 3 12198945 12198945 + Silent SNP C C T TCGA-DE-A4MB-01A-11D-A257-08 TCGA-DE-A4MB-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 83ea1409-56e4-4ffb-beb2-9275a70e9bb5 ca920f65-56bb-4a76-935e-ceceb4767793 g.chr3:12198945C>T ENST00000287814.4 - 2 687 c.177G>A c.(175-177)ccG>ccA p.P59P SYN2_ENST00000432424.2_RNA NM_003256.3 NP_003247.1 Q99727 TIMP4_HUMAN TIMP metallopeptidase inhibitor 4 59 NTR. metal ion binding|metalloendopeptidase inhibitor activity central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1) 11 CTGCACTGGCCGGAACTACCT 0.522000 3 30 0 0 1 0 0 SPOCK2 9806 broad.mit.edu 37 10 73827958 73827958 + Silent SNP G G A TCGA-DE-A4MB-01A-11D-A257-08 TCGA-DE-A4MB-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 83ea1409-56e4-4ffb-beb2-9275a70e9bb5 ca920f65-56bb-4a76-935e-ceceb4767793 g.chr10:73827958G>A ENST00000373109.2 - 6 1020 c.576C>T c.(574-576)gcC>gcT p.A192A SPOCK2_ENST00000460053.1_5'UTR|SPOCK2_ENST00000317376.4_Silent_p.A192A|SPOCK2_ENST00000536168.1_Silent_p.A192A NM_001244950.1 NP_001231879.1 Q92563 TICN2_HUMAN sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 2 192 extracellular matrix organization|regulation of cell differentiation|signal transduction|synapse assembly proteinaceous extracellular matrix calcium ion binding endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 9 GTTTGCCATCGGCGGTGGAGG 0.667000 9 5 0 0 1 0 0 PRLHR 2834 broad.mit.edu 37 10 120353932 120353932 + Silent SNP G G A TCGA-DE-A4MB-01A-11D-A257-08 TCGA-DE-A4MB-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 83ea1409-56e4-4ffb-beb2-9275a70e9bb5 ca920f65-56bb-4a76-935e-ceceb4767793 g.chr10:120353932G>A ENST00000239032.2 - 2 963 c.825C>T c.(823-825)cgC>cgT p.R275R PRLHR_ENST00000369169.1_Silent_p.R275R NM_004248.2 NP_004239.1 P49683 PRLHR_HUMAN prolactin releasing hormone receptor 275 female pregnancy integral to plasma membrane neuropeptide Y receptor activity large_intestine(2)|lung(8)|ovary(1)|skin(1) 12 Colorectal(252;0.0429)|Lung NSC(174;0.142)|all_lung(145;0.175) all cancers(201;0.0166) AGCAGAAGGTGCGCCGGCGCC 0.687000 6 29 0 0 1 0 0 AC015849.16 0 broad.mit.edu 37 17 34235622 34235622 + RNA SNP C C T TCGA-DE-A4MB-01A-11D-A257-08 TCGA-DE-A4MB-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 83ea1409-56e4-4ffb-beb2-9275a70e9bb5 ca920f65-56bb-4a76-935e-ceceb4767793 g.chr17:34235622C>T ENST00000587132.1 - 0 2405 TAGAGGCCTTCGGTTCCTCCT 0.453000 4 61 0 0 1 0 0 TUBBP5 0 broad.mit.edu 37 9 141070768 141070768 + RNA SNP C C T rs4609262 by1000genomes TCGA-DE-A4MB-01A-11D-A257-08 TCGA-DE-A4MB-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 83ea1409-56e4-4ffb-beb2-9275a70e9bb5 ca920f65-56bb-4a76-935e-ceceb4767793 g.chr9:141070768C>T ENST00000503395.1 + 0 1543 GCTGTGACTGCCTGCAGGGTT 0.617000 3 23 0 0 1 0 0 LL22NC03-80A10.6 0 broad.mit.edu 37 22 22664115 22664115 + RNA SNP A A T TCGA-DE-A4MB-01A-11D-A257-08 TCGA-DE-A4MB-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 83ea1409-56e4-4ffb-beb2-9275a70e9bb5 ca920f65-56bb-4a76-935e-ceceb4767793 g.chr22:22664115A>T ENST00000426066.1 + 0 638 NR_027293.1 TGTTTAATTCAGCCTTGGAAG 0.413000 4 72 0 0 1 0 0 DCAF8L2 347442 broad.mit.edu 37 X 27766084 27766084 + Missense_Mutation SNP G G T TCGA-DE-A4MB-01A-11D-A257-08 TCGA-DE-A4MB-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 83ea1409-56e4-4ffb-beb2-9275a70e9bb5 ca920f65-56bb-4a76-935e-ceceb4767793 g.chrX:27766084G>T ENST00000451261.2 + 5 1471 c.1072G>T c.(1072-1074)Gtg>Ttg p.V358L NM_001136533.1 NP_001130005.1 DDB1 and CUL4 associated factor 8-like 2 central_nervous_system(1)|endometrium(9)|kidney(3)|lung(7)|pancreas(1)|skin(3) 24 TTCAAAAGTTGTGGTAACAAG 0.448000 5 28 0.000602214 0.000602214 1 1 0 FBXO9 26268 broad.mit.edu 37 6 52945836 52945836 + Missense_Mutation SNP C C G TCGA-DE-A4MB-01A-11D-A257-08 TCGA-DE-A4MB-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 83ea1409-56e4-4ffb-beb2-9275a70e9bb5 ca920f65-56bb-4a76-935e-ceceb4767793 g.chr6:52945836C>G ENST00000244426.6 + 5 680 c.508C>G c.(508-510)Cag>Gag p.Q170E FBXO9_ENST00000370939.3_Missense_Mutation_p.Q126E|FBXO9_ENST00000323557.7_Missense_Mutation_p.Q160E NM_012347.4 NP_036479.1 Q9UK97 FBX9_HUMAN F-box protein 9 170 ubiquitin ligase complex ubiquitin-protein ligase activity kidney(1)|large_intestine(4)|lung(1)|pancreas(2)|skin(1) 9 Lung NSC(77;0.103) ACTCACATTTCAGGAGTCTGT 0.393000 10 56 0 0 1 0 0 GOLIM4 27333 broad.mit.edu 37 3 167728142 167728142 + Missense_Mutation SNP C C A TCGA-DE-A4MB-01A-11D-A257-08 TCGA-DE-A4MB-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 83ea1409-56e4-4ffb-beb2-9275a70e9bb5 ca920f65-56bb-4a76-935e-ceceb4767793 g.chr3:167728142C>A ENST00000470487.1 - 16 2695 c.2006G>T c.(2005-2007)cGa>cTa p.R669L GOLIM4_ENST00000309027.4_Missense_Mutation_p.R641L NM_014498.3 NP_055313.1 O00461 GOLI4_HUMAN golgi integral membrane protein 4 669 Glu-rich. transport cis-Golgi network|endocytic vesicle|endosome membrane|Golgi cisterna membrane|Golgi lumen|integral to membrane|nucleus breast(5)|endometrium(2)|large_intestine(8)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 GTGTTCCTCTCGGCCTTTGGG 0.423000 5 83 0.000157383 0.000160805 1 1 0 DDX4 54514 broad.mit.edu 37 5 55082457 55082457 + Nonsense_Mutation SNP C C T TCGA-DE-A4MB-01A-11D-A257-08 TCGA-DE-A4MB-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 83ea1409-56e4-4ffb-beb2-9275a70e9bb5 ca920f65-56bb-4a76-935e-ceceb4767793 g.chr5:55082457C>T ENST00000505374.1 + 14 1068 c.976C>T c.(976-978)Cga>Tga p.R326* DDX4_ENST00000511853.1_Nonsense_Mutation_p.R177*|DDX4_ENST00000354991.5_Nonsense_Mutation_p.R292*|DDX4_ENST00000514278.2_Nonsense_Mutation_p.R306*|DDX4_ENST00000353507.5_Nonsense_Mutation_p.R292* NM_024415.2 NP_077726.1 Q9NQI0 DDX4_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 4 326 Helicase ATP-binding. multicellular organismal development|sperm motility perinuclear region of cytoplasm|pi-body|piP-body ATP binding|ATP-dependent helicase activity|nucleic acid binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(2) 24 Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223) ACTTGCAGGACGAGATTTGAT 0.413000 4 83 0 0 1 0 0 RBL1 5933 broad.mit.edu 37 20 35651085 35651085 + Missense_Mutation SNP G G A TCGA-DE-A4MB-01A-11D-A257-08 TCGA-DE-A4MB-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 83ea1409-56e4-4ffb-beb2-9275a70e9bb5 ca920f65-56bb-4a76-935e-ceceb4767793 g.chr20:35651085G>A ENST00000373664.3 - 17 2593 c.2527C>T c.(2527-2529)Ctc>Ttc p.L843F RBL1_ENST00000344359.3_Missense_Mutation_p.L843F NM_002895.2 NP_002886.2 P28749 RBL1_HUMAN retinoblastoma-like 1 (p107) 843 Domain B.|Pocket; binds T and E1A. cell cycle|chromatin modification|interspecies interaction between organisms|regulation of cell cycle|regulation of lipid kinase activity|transcription, DNA-dependent transcription factor binding NS(1)|breast(1)|endometrium(7)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1) 42 Myeloproliferative disorder(115;0.00878) CAAAGGAGGAGCTGATCCAAA 0.418000 6 71 0 0 1 0 0 SLC2A1 6513 broad.mit.edu 37 1 43395605 43395605 + Silent SNP G G A TCGA-DE-A4MB-01A-11D-A257-08 TCGA-DE-A4MB-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 83ea1409-56e4-4ffb-beb2-9275a70e9bb5 ca920f65-56bb-4a76-935e-ceceb4767793 g.chr1:43395605G>A ENST00000426263.3 - 5 796 c.618C>T c.(616-618)ttC>ttT p.F206F SLC2A1_ENST00000475162.1_Intron|SLC2A1_ENST00000415851.2_Intron NM_006516.2 NP_006507.2 P11166 GTR1_HUMAN solute carrier family 2 (facilitated glucose transporter), member 1 206 carbohydrate metabolic process|energy reserve metabolic process|regulation of insulin secretion|water-soluble vitamin metabolic process integral to membrane|melanosome|membrane fraction|midbody D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|pancreas(2) 13 Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0122) Etomidate(DB00292) TCTCGGGGCAGAAGGGCAGCA 0.642000 5 86 0 0 1 0 0 AP4E1 23431 broad.mit.edu 37 15 51250835 51250835 + Silent SNP G G T TCGA-DE-A4MB-01A-11D-A257-08 TCGA-DE-A4MB-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 83ea1409-56e4-4ffb-beb2-9275a70e9bb5 ca920f65-56bb-4a76-935e-ceceb4767793 g.chr15:51250835G>T ENST00000261842.5 + 14 1801 c.1695G>T c.(1693-1695)gcG>gcT p.A565A AP4E1_ENST00000560508.1_Silent_p.A490A NM_001252127.1|NM_007347.4 NP_001239056.1|NP_031373.2 Q9UPM8 AP4E1_HUMAN adaptor-related protein complex 4, epsilon 1 subunit 565 intracellular protein transport|vesicle-mediated transport COPI vesicle coat binding|structural molecule activity breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(5)|skin(2) 27 all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364) CATCTCAGGCGCACTCTTCTA 0.353000 17 42 3.45872e-05 3.61244e-05 1 1 0 MIA3 375056 broad.mit.edu 37 1 222803243 222803243 + Missense_Mutation SNP C C T TCGA-DE-A4MB-01A-11D-A257-08 TCGA-DE-A4MB-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 83ea1409-56e4-4ffb-beb2-9275a70e9bb5 ca920f65-56bb-4a76-935e-ceceb4767793 g.chr1:222803243C>T ENST00000344922.5 + 4 2706 c.2681C>T c.(2680-2682)tCt>tTt p.S894F MIA3_ENST00000470521.1_3'UTR|MIA3_ENST00000344441.6_Missense_Mutation_p.S894F|MIA3_ENST00000344507.1_Intron NM_198551.2 NP_940953.2 Q5JRA6 MIA3_HUMAN melanoma inhibitory activity family, member 3 894 exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing endoplasmic reticulum membrane|integral to membrane protein binding breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1) 80 GBM - Glioblastoma multiforme(131;0.0199) AGCCAGGGGTCTGCTGCTGCA 0.517000 4 77 0 0 1 0 0 FAM86B2 653333 broad.mit.edu 37 8 12286307 12286307 + Missense_Mutation SNP T T C rs148161726 TCGA-DE-A4MB-01A-11D-A257-08 TCGA-DE-A4MB-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 83ea1409-56e4-4ffb-beb2-9275a70e9bb5 ca920f65-56bb-4a76-935e-ceceb4767793 g.chr8:12286307T>C ENST00000262365.4 - 6 576 c.577A>G c.(577-579)Atc>Gtc p.I193V FAM86B2_ENST00000351291.4_Missense_Mutation_p.I159V|FAM86B2_ENST00000393715.3_Intron|FAM86B2_ENST00000309608.5_Intron NM_001137610.1 NP_001131082.1 P0C5J1 F86B2_HUMAN family with sequence similarity 86, member B2 193 endometrium(1)|kidney(2) 3 TGCTCGAGGATCCGGCTGTGA 0.602000 3 32 0 0 1 0 0 ZBTB8OS 339487 broad.mit.edu 37 1 33099302 33099302 + Missense_Mutation SNP G G T TCGA-DE-A4MB-01A-11D-A257-08 TCGA-DE-A4MB-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 83ea1409-56e4-4ffb-beb2-9275a70e9bb5 ca920f65-56bb-4a76-935e-ceceb4767793 g.chr1:33099302G>T ENST00000468695.1 - 4 325 c.307C>A c.(307-309)Cac>Aac p.H103N ZBTB8OS_ENST00000373501.2_Missense_Mutation_p.H91N|ZBTB8OS_ENST00000492007.1_Intron|ZBTB8OS_ENST00000341885.5_Intron NM_178547.2 NP_848642.1 Q8IWT0 ARCH_HUMAN zinc finger and BTB domain containing 8 opposite strand 91 endometrium(1)|lung(4)|upper_aerodigestive_tract(1) 6 Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186) TCCAAAAAGTGAAACAGAAGA 0.318000 5 43 1.23904e-05 1.32352e-05 1 1 0 AKT1 207 broad.mit.edu 37 14 105246445 105246445 + Missense_Mutation SNP A A C TCGA-DE-A4MB-01A-11D-A257-08 TCGA-DE-A4MB-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 83ea1409-56e4-4ffb-beb2-9275a70e9bb5 ca920f65-56bb-4a76-935e-ceceb4767793 g.chr14:105246445A>C ENST00000554581.1 - 2 1635 c.155T>G c.(154-156)cTc>cGc p.L52R AKT1_ENST00000555528.1_Missense_Mutation_p.L52R|AKT1_ENST00000554848.1_Missense_Mutation_p.L52R|AKT1_ENST00000407796.2_Missense_Mutation_p.L52R|AKT1_ENST00000402615.2_Missense_Mutation_p.L52R|AKT1_ENST00000349310.3_Missense_Mutation_p.L52R P31749 AKT1_HUMAN v-akt murine thymoma viral oncogene homolog 1 52 PH. activation of pro-apoptotic gene products|activation-induced cell death of T cells|endocrine pancreas development|G-protein coupled receptor protein signaling pathway|glucose metabolic process|glycogen biosynthetic process|induction of apoptosis by intracellular signals|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|mRNA metabolic process|negative regulation of fatty acid beta-oxidation|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|nitric oxide biosynthetic process|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of blood vessel endothelial cell migration|positive regulation of cell growth|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of establishment of protein localization in plasma membrane|positive regulation of fat cell differentiation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|positive regulation of nitric oxide biosynthetic process|positive regulation of nitric-oxide synthase activity|positive regulation of peptidyl-serine phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|protein autophosphorylation|protein import into nucleus, translocation|regulation of neuron projection development|regulation of translation|response to fluid shear stress|response to heat|response to UV-A|T cell costimulation cytosol|nucleoplasm|plasma membrane enzyme binding|identical protein binding|nitric-oxide synthase regulator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|protein serine/threonine kinase activity p.L52R(2) NS(3)|breast(97)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(7)|lung(10)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|thyroid(10)|urinary_tract(15) 176 all_cancers(154;3.77e-06)|all_lung(585;3.24e-07)|all_epithelial(191;3.45e-05)|all_neural(303;0.0459)|Melanoma(154;0.155) all cancers(16;0.000486)|OV - Ovarian serous cystadenocarcinoma(23;0.00647)|Epithelial(46;0.0153)|GBM - Glioblastoma multiforme(11;0.116) all cancers(159;0.0107)|OV - Ovarian serous cystadenocarcinoma(161;0.0132)|Epithelial(152;0.243) Adenosine triphosphate(DB00171)|Arsenic trioxide(DB01169) GAAGTTGTTGAGGGGAGCCTC 0.592000 1 Mis """breast, colorectal, ovarian, NSCLC""" 12 28 0 0 1 0 0 FGF13 2258 broad.mit.edu 37 X 137717796 137717796 + Silent SNP G G A TCGA-DE-A4MB-01A-11D-A257-08 TCGA-DE-A4MB-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 83ea1409-56e4-4ffb-beb2-9275a70e9bb5 ca920f65-56bb-4a76-935e-ceceb4767793 g.chrX:137717796G>A ENST00000315930.6 - 4 1084 c.423C>T c.(421-423)tgC>tgT p.C141C FGF13_ENST00000370603.3_Silent_p.C151C|FGF13_ENST00000541469.1_Silent_p.C95C|FGF13_ENST00000441825.2_Silent_p.C122C|FGF13_ENST00000305414.4_Silent_p.C88C NM_004114.3 NP_004105.1 Q92913 FGF13_HUMAN fibroblast growth factor 13 141 cell-cell signaling|MAPKKK cascade|nervous system development cytoplasm|nucleus growth factor activity|protein kinase activator activity breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1) 24 Acute lymphoblastic leukemia(192;0.000127) CTTTGAATTTGCACTCAGGTG 0.368000 12 35 0 0 1 0 0 CCDC158 339965 broad.mit.edu 37 4 77247129 77247129 + Missense_Mutation SNP T T C TCGA-DE-A4MB-01A-11D-A257-08 TCGA-DE-A4MB-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 83ea1409-56e4-4ffb-beb2-9275a70e9bb5 ca920f65-56bb-4a76-935e-ceceb4767793 g.chr4:77247129T>C ENST00000388914.3 - 22 3190 c.3038A>G c.(3037-3039)aAt>aGt p.N1013S NM_001042784.1 NP_001036249.1 Q5M9N0 CD158_HUMAN coiled-coil domain containing 158 1013 Ser-rich. breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1) 56 AGGAGAAGAATTGAATGAACG 0.368000 50 95 0 0 1 0 0 ZNF724P 0 broad.mit.edu 37 19 23405665 23405665 + Missense_Mutation SNP C C T TCGA-DE-A4MB-01A-11D-A257-08 TCGA-DE-A4MB-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 83ea1409-56e4-4ffb-beb2-9275a70e9bb5 ca920f65-56bb-4a76-935e-ceceb4767793 g.chr19:23405665C>T ENST00000418100.1 - 4 1499 c.1382G>A c.(1381-1383)cGg>cAg p.R461Q endometrium(3)|kidney(1)|lung(2)|ovary(2) 8 GTTTGAGGACCGCTTAAAAGC 0.383000 27 46 0 0 1 0 0 KANK2 25959 broad.mit.edu 37 19 11304503 11304503 + Missense_Mutation SNP C C T TCGA-DE-A4MB-01A-11D-A257-08 TCGA-DE-A4MB-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 83ea1409-56e4-4ffb-beb2-9275a70e9bb5 ca920f65-56bb-4a76-935e-ceceb4767793 g.chr19:11304503C>T ENST00000432929.2 - 4 613 c.253G>A c.(253-255)Gag>Aag p.E85K KANK2_ENST00000355150.5_Missense_Mutation_p.E85K|KANK2_ENST00000586659.1_Missense_Mutation_p.E85K|KANK2_ENST00000589894.1_Missense_Mutation_p.E85K|KANK2_ENST00000589359.1_Missense_Mutation_p.E85K NM_001136191.2 NP_001129663.1 Q63ZY3 KANK2_HUMAN KN motif and ankyrin repeat domains 2 85 endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 CACAGCGACTCAGTGGACGTC 0.677000 6 86 0 0 1 0 0 MIB2 142678 broad.mit.edu 37 1 1560433 1560433 + Missense_Mutation SNP A A T TCGA-DE-A4MB-01A-11D-A257-08 TCGA-DE-A4MB-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 83ea1409-56e4-4ffb-beb2-9275a70e9bb5 ca920f65-56bb-4a76-935e-ceceb4767793 g.chr1:1560433A>T ENST00000357210.4 + 6 979 c.763A>T c.(763-765)Agt>Tgt p.S255C MIB2_ENST00000378712.1_Intron|MIB2_ENST00000520777.1_Missense_Mutation_p.S312C|MIB2_ENST00000360522.4_Missense_Mutation_p.S255C|MIB2_ENST00000378710.3_Missense_Mutation_p.S255C|MIB2_ENST00000355826.5_Missense_Mutation_p.S298C|MIB2_ENST00000378708.1_Missense_Mutation_p.S197C|MIB2_ENST00000518681.1_Intron|MIB2_ENST00000505820.2_Missense_Mutation_p.S312C|MIB2_ENST00000504599.1_Missense_Mutation_p.S211C NM_080875.2 NP_543151.2 Q96AX9 MIB2_HUMAN mindbomb E3 ubiquitin protein ligase 2 255 MIB/HERC2 2. Notch signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade endosome actin binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding central_nervous_system(1)|endometrium(5)|lung(7)|prostate(4)|upper_aerodigestive_tract(1) 18 all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217) Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199) GACAGGCCGGAGTGTGGCCAG 0.662000 32 47 0 0 1 0 0 CDH26 60437 broad.mit.edu 37 20 58547113 58547113 + Missense_Mutation SNP G G T TCGA-DE-A4MB-01A-11D-A257-08 TCGA-DE-A4MB-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 83ea1409-56e4-4ffb-beb2-9275a70e9bb5 ca920f65-56bb-4a76-935e-ceceb4767793 g.chr20:58547113G>T ENST00000348616.4 + 4 628 c.328G>T c.(328-330)Gat>Tat p.D110Y CDH26_ENST00000244047.5_Missense_Mutation_p.D110Y NM_177980.2 NP_817089.1 Q8IXH8 CAD26_HUMAN cadherin 26 110 Cadherin 1. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1) 44 all_lung(29;0.00963) BRCA - Breast invasive adenocarcinoma(7;5.58e-09) TTCTCTAGAAGATCATGAGAA 0.383000 9 38 1.12685e-05 1.23167e-05 1 1 0 CRYL1 51084 broad.mit.edu 37 13 21006266 21006266 + Missense_Mutation SNP A A G TCGA-DE-A4MB-01A-11D-A257-08 TCGA-DE-A4MB-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 83ea1409-56e4-4ffb-beb2-9275a70e9bb5 ca920f65-56bb-4a76-935e-ceceb4767793 g.chr13:21006266A>G ENST00000382812.1 - 6 770 c.542T>C c.(541-543)aTc>aCc p.I181T CRYL1_ENST00000298248.7_Missense_Mutation_p.I203T|CRYL1_ENST00000480748.1_5'UTR Q9Y2S2 CRYL1_HUMAN crystallin, lambda 1 203 fatty acid metabolic process cytosol 3-hydroxyacyl-CoA dehydrogenase activity|L-gulonate 3-dehydrogenase activity|NAD+ binding|protein homodimerization activity NS(1)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)|upper_aerodigestive_tract(1) 14 all_cancers(29;2.27e-23)|all_epithelial(30;1.69e-19)|all_lung(29;8.29e-18)|Lung SC(185;0.0262)|Ovarian(182;0.0827)|Hepatocellular(188;0.244) all cancers(112;6.6e-05)|Epithelial(112;0.00178)|OV - Ovarian serous cystadenocarcinoma(117;0.0169)|Lung(94;0.0215)|GBM - Glioblastoma multiforme(144;0.0402)|LUSC - Lung squamous cell carcinoma(192;0.061) GGCCTCGCTGATGATTGCATA 0.587000 20 32 0 0 1 0 0 FMO3 2328 broad.mit.edu 37 1 171083277 171083277 + Nonsense_Mutation SNP G G T TCGA-DE-A4MB-01A-11D-A257-08 TCGA-DE-A4MB-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 83ea1409-56e4-4ffb-beb2-9275a70e9bb5 ca920f65-56bb-4a76-935e-ceceb4767793 g.chr1:171083277G>T ENST00000367755.4 + 7 1069 c.958G>T c.(958-960)Gag>Tag p.E320* FMO3_ENST00000392085.2_Nonsense_Mutation_p.E320*|FMO3_ENST00000542847.1_Nonsense_Mutation_p.E300*|FMO3_ENST00000538429.1_Nonsense_Mutation_p.E257* NM_001002294.2 NP_001002294.1 P31513 FMO3_HUMAN flavin containing monooxygenase 3 320 xenobiotic metabolic process integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome flavin adenine dinucleotide binding|flavin-containing monooxygenase activity endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2) 31 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) GACCATATTTGAGGGCATTGA 0.433000 41 67 9.84934e-19 1.10219e-18 1 1 0 ANKRD20A8P 0 broad.mit.edu 37 2 95522772 95522772 + RNA SNP T T C TCGA-DE-A4MB-01A-11D-A257-08 TCGA-DE-A4MB-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 83ea1409-56e4-4ffb-beb2-9275a70e9bb5 ca920f65-56bb-4a76-935e-ceceb4767793 g.chr2:95522772T>C ENST00000432432.2 - 0 255 NR_040113.1 p.E49G(1) GCGCTCCACCTCCGCGGCGTC 0.682000 4 69 0 0 1 0 0 CPSF1 29894 broad.mit.edu 37 8 145624726 145624726 + Silent SNP C C T TCGA-DE-A4MB-01A-11D-A257-08 TCGA-DE-A4MB-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 83ea1409-56e4-4ffb-beb2-9275a70e9bb5 ca920f65-56bb-4a76-935e-ceceb4767793 g.chr8:145624726C>T ENST00000349769.3 - 14 1426 c.1332G>A c.(1330-1332)gaG>gaA p.E444E NM_013291.2 NP_037423.2 Q10570 CPSF1_HUMAN cleavage and polyadenylation specific factor 1, 160kDa 444 mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription mRNA cleavage and polyadenylation specificity factor complex mRNA 3'-UTR binding|protein binding NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-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;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055) ACACTTCAATCTCGTCCACCT 0.662000 8 22 0 0 1 0 0 EPG5 57724 broad.mit.edu 37 18 43484051 43484051 + Missense_Mutation SNP C C T TCGA-DE-A4MB-01A-11D-A257-08 TCGA-DE-A4MB-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 83ea1409-56e4-4ffb-beb2-9275a70e9bb5 ca920f65-56bb-4a76-935e-ceceb4767793 g.chr18:43484051C>T ENST00000282041.5 - 25 4395 c.4361G>A c.(4360-4362)cGc>cAc p.R1454H EPG5_ENST00000585906.1_5'UTR NM_020964.2 NP_066015.2 Q9HCE0 EPG5_HUMAN ectopic P-granules autophagy protein 5 homolog (C. elegans) 1454 autophagy p.R1454H(1) NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 95 ATGATAGATGCGCTCCATGTT 0.443000 27 57 0 0 1 0 0 PKM 5315 broad.mit.edu 37 15 72494909 72494909 + Missense_Mutation SNP A A T TCGA-DE-A4MB-01A-11D-A257-08 TCGA-DE-A4MB-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 83ea1409-56e4-4ffb-beb2-9275a70e9bb5 ca920f65-56bb-4a76-935e-ceceb4767793 g.chr15:72494909A>T ENST00000335181.5 - 9 1296 c.1193T>A c.(1192-1194)cTc>cAc p.L398H PKM_ENST00000389093.3_Intron|PKM_ENST00000565184.1_Intron|PKM_ENST00000449901.2_Missense_Mutation_p.L383H|PKM_ENST00000568883.1_Intron|PKM_ENST00000568459.1_Intron|PKM_ENST00000565154.1_Intron|PKM_ENST00000319622.6_Intron NM_002654.4 NP_002645.3 pyruvate kinase, muscle endometrium(1)|lung(7) 8 CAGGCGGCGGAGTTCCTCAAA 0.612000 4 20 0 0 1 0 0 PIPSL 0 broad.mit.edu 37 10 95721200 95721200 + RNA SNP G G A TCGA-DE-A4MB-01A-11D-A257-08 TCGA-DE-A4MB-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 83ea1409-56e4-4ffb-beb2-9275a70e9bb5 ca920f65-56bb-4a76-935e-ceceb4767793 g.chr10:95721200G>A ENST00000480546.1 - 0 97 NR_002319.2 GGAAGGGACCGCGGGATCAAC 0.582000 8 106 0 0 1 0 0 KANK1 23189 broad.mit.edu 37 9 744525 744525 + Missense_Mutation SNP C C T TCGA-DE-A4MB-01A-11D-A257-08 TCGA-DE-A4MB-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 83ea1409-56e4-4ffb-beb2-9275a70e9bb5 ca920f65-56bb-4a76-935e-ceceb4767793 g.chr9:744525C>T ENST00000382303.1 + 15 4584 c.3932C>T c.(3931-3933)gCa>gTa p.A1311V KANK1_ENST00000489369.1_3'UTR|KANK1_ENST00000382293.3_Missense_Mutation_p.A1153V|KANK1_ENST00000382297.2_Missense_Mutation_p.A1311V NM_001256876.1 NP_001243805.1 Q14678 KANK1_HUMAN KN motif and ankyrin repeat domains 1 1311 negative regulation of actin filament polymerization cytoplasm autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1) 43 Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128) Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222) GCCCTGGAAGCAGGACACAAG 0.478000 4 88 0 0 1 0 0 DCAF4L1 285429 broad.mit.edu 37 4 41984086 41984086 + Missense_Mutation SNP G G A TCGA-DE-A4MB-01A-11D-A257-08 TCGA-DE-A4MB-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 83ea1409-56e4-4ffb-beb2-9275a70e9bb5 ca920f65-56bb-4a76-935e-ceceb4767793 g.chr4:41984086G>A ENST00000333141.5 + 1 374 c.277G>A c.(277-279)Gaa>Aaa p.E93K NM_001029955.3 NP_001025126.2 Q3SXM0 DC4L1_HUMAN DDB1 and CUL4 associated factor 4-like 1 93 breast(1)|endometrium(5)|kidney(6)|large_intestine(11)|lung(12)|prostate(1)|skin(1) 37 GAACCAGGTCGAAGTCGAAGG 0.537000 19 50 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-DE-A4MB-01A-11D-A257-08 TCGA-DE-A4MB-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 83ea1409-56e4-4ffb-beb2-9275a70e9bb5 ca920f65-56bb-4a76-935e-ceceb4767793 g.chr7:140453136A>T ENST00000288602.6 - 15 1859 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333.4 NP_004324.2 P15056 BRAF_HUMAN v-raf murine sarcoma viral oncogene homolog B 600 Protein kinase. V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis). activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1) SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) TCGAGATTTCACTGTAGCTAG 0.368000 V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN) 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 26 43 0 0 1 0 0 CSMD2 114784 broad.mit.edu 37 1 34076666 34076666 + Silent SNP C C G TCGA-DE-A4MB-01A-11D-A257-08 TCGA-DE-A4MB-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 83ea1409-56e4-4ffb-beb2-9275a70e9bb5 ca920f65-56bb-4a76-935e-ceceb4767793 g.chr1:34076666C>G ENST00000373381.4 - 41 6494 c.6318G>C c.(6316-6318)cgG>cgC p.R2106R CSMD2_ENST00000373380.1_Silent_p.R979R|CSMD2_ENST00000373377.1_Silent_p.R205R|CSMD2_ENST00000373388.2_Silent_p.R205R NM_052896.3 NP_443128.2 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 2066 integral to membrane|plasma membrane protein binding NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1) 246 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) TGAATCCTGGCCGATTCTGGG 0.567000 7 29 0 0 1 0 0 FAM47C 442444 broad.mit.edu 37 X 37028585 37028585 + Missense_Mutation SNP G G A TCGA-DE-A4MB-01A-11D-A257-08 TCGA-DE-A4MB-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 83ea1409-56e4-4ffb-beb2-9275a70e9bb5 ca920f65-56bb-4a76-935e-ceceb4767793 g.chrX:37028585G>A ENST00000358047.3 + 1 2154 c.2102G>A c.(2101-2103)cGt>cAt p.R701H NM_001013736.2 NP_001013758.1 Q5HY64 FA47C_HUMAN family with sequence similarity 47, member C 701 breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 120 GGAGTGTCCCGTCTCCACCCA 0.647000 4 135 0 0 1 0 0 IQUB 154865 broad.mit.edu 37 7 123152231 123152231 + Missense_Mutation SNP C C T TCGA-DE-A4MB-01A-11D-A257-08 TCGA-DE-A4MB-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 83ea1409-56e4-4ffb-beb2-9275a70e9bb5 ca920f65-56bb-4a76-935e-ceceb4767793 g.chr7:123152231C>T ENST00000466202.1 - 2 740 c.164G>A c.(163-165)aGc>aAc p.S55N IQUB_ENST00000434450.1_Missense_Mutation_p.S55N|IQUB_ENST00000488987.1_Intron|IQUB_ENST00000324698.6_Missense_Mutation_p.S55N Q8NA54 IQUB_HUMAN IQ motif and ubiquitin domain containing 55 breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1) 45 TATTGCATGGCTCTCACTGAA 0.423000 34 62 0 0 1 0 0 COL5A3 50509 broad.mit.edu 37 19 10114761 10114761 + Missense_Mutation SNP G G A rs148469753 TCGA-DE-A4MB-01A-11D-A257-08 TCGA-DE-A4MB-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 83ea1409-56e4-4ffb-beb2-9275a70e9bb5 ca920f65-56bb-4a76-935e-ceceb4767793 g.chr19:10114761G>A ENST00000264828.3 - 5 740 c.655C>T c.(655-657)Cgg>Tgg p.R219W NM_015719.3 NP_056534.2 P25940 CO5A3_HUMAN collagen, type V, alpha 3 219 Nonhelical region. collagen fibril organization|skin development collagen type V collagen binding|extracellular matrix structural constituent NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 116 Epithelial(33;7.11e-05) GGGAGGTACCGCTCACAAGCC 0.602000 21 51 0 0 1 0 0 INTS4L2 0 broad.mit.edu 37 7 65150814 65150815 + RNA INS - - C TCGA-DE-A4MB-01A-11D-A257-08 TCGA-DE-A4MB-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 83ea1409-56e4-4ffb-beb2-9275a70e9bb5 ca920f65-56bb-4a76-935e-ceceb4767793 g.chr7:65150814_65150815insC ENST00000430126.2 + 0 757 TCTTCATCCCTCACCCCCCCCC 0.460 3 6 --- --- --- --- MIR3648 0 broad.mit.edu 37 21 9825838 9825839 + RNA INS - - GCG rs3052281 TCGA-DE-A4MB-01A-11D-A257-08 TCGA-DE-A4MB-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 83ea1409-56e4-4ffb-beb2-9275a70e9bb5 ca920f65-56bb-4a76-935e-ceceb4767793 g.chr21:9825838_9825839insGCG ENST00000581792.1 + 0 7_8 NR_037421.1 cggccgcgactgcggcggcggt 0.842 3 5 --- --- --- ---