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 TCP11L2 255394 broad.mit.edu 37 12 106715426 106715426 + Missense_Mutation SNP G G C TCGA-BJ-A2N9-01A-11D-A18F-08 TCGA-BJ-A2N9-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a00bec6-810b-4749-93e0-039659cbf4c9 b26431e2-7d3d-475e-bfdf-013f3306f45e g.chr12:106715426G>C uc001tln.3 + 4 751 c.577G>C c.(577-579)Gtg>Ctg p.V193L TCP11L2_uc001tll.3_Missense_Mutation_p.V193L|TCP11L2_uc001tlm.3_Missense_Mutation_p.V193L NM_152772 NP_689985 Q8N4U5 T11L2_HUMAN Homo sapiens t-complex 11 (mouse)-like 2 (TCP11L2), mRNA. 193 endometrium(2)|kidney(2)|large_intestine(5)|ovary(3)|prostate(1)|urinary_tract(2) 15 GTGTGCTCCCGTGCGAGATAA 0.493000 3 82 0 0 1 0 0 VWF 7450 broad.mit.edu 37 12 6204449 6204449 + Splice_Site SNP G G T TCGA-BJ-A2N9-01A-11D-A18F-08 TCGA-BJ-A2N9-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a00bec6-810b-4749-93e0-039659cbf4c9 b26431e2-7d3d-475e-bfdf-013f3306f45e g.chr12:6204449G>T uc001qno.1 - 7 1326 c.945_splice c.e7+1 VWF_uc001qnn.1_Intron|VWF_uc010set.1_Intron P04275 VWF_HUMAN Homo sapiens von Willebrand factor (VWF), mRNA. blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization Weibel-Palade body|endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein N-terminus binding|protein homodimerization activity NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5) 129 Antihemophilic Factor(DB00025) CTCATTTTTAGAGCTTCAGGC 0.423000 3 21 0 0 1 0 0 ARVCF 421 broad.mit.edu 37 22 19960732 19960732 + Missense_Mutation SNP A A G TCGA-BJ-A2N9-01A-11D-A18F-08 TCGA-BJ-A2N9-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a00bec6-810b-4749-93e0-039659cbf4c9 b26431e2-7d3d-475e-bfdf-013f3306f45e g.chr22:19960732A>G uc002zqz.3 - 13 2618 c.2348T>C c.(2347-2349)aTc>aCc p.I783T ARVCF_uc002zqy.3_Missense_Mutation_p.I299T NM_001670 NP_001661 O00192 ARVC_HUMAN Homo sapiens armadillo repeat gene deleted in velocardiofacial syndrome (ARVCF), mRNA. 783 cell adhesion|multicellular organismal development protein binding NS(1)|cervix(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|urinary_tract(2) 13 Colorectal(54;0.0993) GATTTCGTGGATGGTGTTGAG 0.672000 6 11 0 0 1 0 0 WDR45 11152 broad.mit.edu 37 X 48933589 48933589 + Missense_Mutation SNP C C A TCGA-BJ-A2N9-01A-11D-A18F-08 TCGA-BJ-A2N9-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a00bec6-810b-4749-93e0-039659cbf4c9 b26431e2-7d3d-475e-bfdf-013f3306f45e g.chrX:48933589C>A uc004dml.1 - 6 627 c.455G>T c.(454-456)tGc>tTc p.C152F WDR45_uc004dmi.3_5'Flank|WDR45_uc011mmt.2_Missense_Mutation_p.C49F|WDR45_uc004dmj.1_Missense_Mutation_p.C112F|WDR45_uc004dmk.1_Missense_Mutation_p.C151F|WDR45_uc004dmn.1_Missense_Mutation_p.C42F|WDR45_uc004dmp.1_Missense_Mutation_p.C152F NM_007075 NP_009006 Q9Y484 WIPI4_HUMAN Homo sapiens WD repeat domain 45 (WDR45), transcript variant 1, mRNA. 151 autophagy|response to starvation organelle membrane phosphatidylinositol-3,5-bisphosphate binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1) 19 CAGGCTGGGGCAGAGGTCACA 0.597000 11 12 0 0 1 0 0 TBC1D24 57465 broad.mit.edu 37 16 2569368 2569368 + Missense_Mutation SNP G G T TCGA-BJ-A2N9-01A-11D-A18F-08 TCGA-BJ-A2N9-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a00bec6-810b-4749-93e0-039659cbf4c9 b26431e2-7d3d-475e-bfdf-013f3306f45e g.chr16:2569368G>T uc002cqm.3 + 1 1230 c.1115G>T c.(1114-1116)cGc>cTc p.R372L ATP6V0C_uc021tav.1_Missense_Mutation_p.A77S|ATP6V0C_uc002cqn.3_Missense_Mutation_p.A77S|AMDHD2_uc002cqp.3_5'Flank|AMDHD2_uc002cqq.3_5'Flank|AMDHD2_uc010uwc.2_5'Flank|AMDHD2_uc010uwd.2_5'Flank NM_020705 NP_065756 Q9ULP9 TBC24_HUMAN Homo sapiens TBC1 domain family, member 24 (TBC1D24), transcript variant 2, mRNA. 0 TLD. neuron projection development cytoplasm Rab GTPase activator activity|protein binding endometrium(2)|kidney(4)|large_intestine(3)|lung(4) 13 AGTCCTCATCGCCAACTCCCT 0.612000 3 64 0 0 1 0 0 MYH1 4619 broad.mit.edu 37 17 10402290 10402290 + Splice_Site SNP C C A TCGA-BJ-A2N9-01A-11D-A18F-08 TCGA-BJ-A2N9-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a00bec6-810b-4749-93e0-039659cbf4c9 b26431e2-7d3d-475e-bfdf-013f3306f45e g.chr17:10402290C>A uc002gmo.3 - 29 4078 c.3984_splice c.e29+1 p.K1328_splice AK097500_uc002gml.1_Intron NM_005963 NP_005954 P12882 MYH1_HUMAN Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA. 1328 muscle myosin complex|myofibril|myosin filament ATP binding|actin binding|calmodulin binding|motor activity NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5) 176 GTGGAGCTTACCTTTATCTCC 0.398000 5 56 0 0 1 0 0 SPOCK3 50859 broad.mit.edu 37 4 167810357 167810357 + Missense_Mutation SNP C C A TCGA-BJ-A2N9-01A-11D-A18F-08 TCGA-BJ-A2N9-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a00bec6-810b-4749-93e0-039659cbf4c9 b26431e2-7d3d-475e-bfdf-013f3306f45e g.chr4:167810357C>A uc011cjq.1 - 4 606 c.549G>T c.(547-549)caG>caT p.Q183H SPOCK3_uc021xuf.1_Missense_Mutation_p.Q174H|SPOCK3_uc011cjr.1_Missense_Mutation_p.Q54H|SPOCK3_uc003iri.1_Missense_Mutation_p.Q174H|SPOCK3_uc011cjs.1_Missense_Mutation_p.Q123H|SPOCK3_uc003irj.1_Missense_Mutation_p.Q171H|SPOCK3_uc011cjt.1_Missense_Mutation_p.Q82H|SPOCK3_uc011cjp.2_Missense_Mutation_p.Q171H|SPOCK3_uc011cju.1_Missense_Mutation_p.Q78H|SPOCK3_uc011cjv.1_Missense_Mutation_p.Q76H|SPOCK3_uc003irk.4_Missense_Mutation_p.Q171H|SPOCK3_uc011cjw.1_Non-coding_Transcript NM_001204353 NP_001191282 Q9BQ16 TICN3_HUMAN Homo sapiens sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3 (SPOCK3), transcript variant 4, mRNA. 174 Kazal-like. signal transduction proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase inhibitor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 38 all_hematologic(180;0.221) Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198) GBM - Glioblastoma multiforme(119;0.02) TGACTGAGATCTGTTTTCCTA 0.328000 22 33 0 0 1 0 0 IDE 3416 broad.mit.edu 37 10 94214212 94214212 + Missense_Mutation SNP C C T TCGA-BJ-A2N9-01A-11D-A18F-08 TCGA-BJ-A2N9-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a00bec6-810b-4749-93e0-039659cbf4c9 b26431e2-7d3d-475e-bfdf-013f3306f45e g.chr10:94214212C>T uc001kia.3 - 24 3125 c.3049G>A c.(3049-3051)Gca>Aca p.A1017T IDE_uc010qnp.2_Missense_Mutation_p.A462T|IDE_uc001khz.3_Missense_Mutation_p.A462T NM_004969 NP_004960 P14735 IDE_HUMAN Homo sapiens insulin-degrading enzyme (IDE), transcript variant 1, mRNA. 1017 beta-amyloid metabolic process|bradykinin catabolic process|interspecies interaction between organisms|sex differentiation cell surface|extracellular space|soluble fraction ATP binding|metalloendopeptidase activity|protein homodimerization activity|signal transducer activity|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|urinary_tract(2) 33 Bacitracin(DB00626)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) CAGAGTTTTGCAGCCATGAAG 0.433000 4 129 0 0 1 0 0 PTPRD 5789 broad.mit.edu 37 9 8499764 8499764 + Silent SNP G G A TCGA-BJ-A2N9-01A-11D-A18F-08 TCGA-BJ-A2N9-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a00bec6-810b-4749-93e0-039659cbf4c9 b26431e2-7d3d-475e-bfdf-013f3306f45e g.chr9:8499764G>A uc003zkk.3 - 24 2948 c.2205C>T c.(2203-2205)ccC>ccT p.P735P PTPRD_uc003zkp.3_Intron|PTPRD_uc003zkq.3_Intron|PTPRD_uc003zkr.3_Intron|PTPRD_uc003zks.3_Intron|PTPRD_uc022bdj.1_Intron NM_002839 NP_002830 P23468 PTPRD_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, D (PTPRD), transcript variant 1, mRNA. 735 Fibronectin type-III 5. transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity p.P735P(1) NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 168 all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824) all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119) TATTGGGCACGGGTGAGCGCC 0.483000 TSP Lung(15;0.13) 3 89 0 0 1 0 0 RFWD2 64326 broad.mit.edu 37 1 176054931 176054931 + Silent SNP T T C TCGA-BJ-A2N9-01A-11D-A18F-08 TCGA-BJ-A2N9-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a00bec6-810b-4749-93e0-039659cbf4c9 b26431e2-7d3d-475e-bfdf-013f3306f45e g.chr1:176054931T>C uc001gku.1 - 9 1378 c.1122A>G c.(1120-1122)acA>acG p.T374T RFWD2_uc001gkv.1_Silent_p.T350T|RFWD2_uc001gkw.1_Silent_p.T134T|RFWD2_uc009wwv.2_Silent_p.T173T|RFWD2_uc001gkt.1_Silent_p.T213T NM_022457 NP_071902 Q8NHY2 RFWD2_HUMAN Homo sapiens ring finger and WD repeat domain 2 (RFWD2), transcript variant 1, mRNA. 374 DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest centrosome|cytosol|focal adhesion|nuclear speck protein binding|ubiquitin-protein ligase activity|zinc ion binding p.T374I(1) endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 30 GAGACATCCTTGTAGAAAAGT 0.348000 3 86 0 0 1 0 0 FILIP1 27145 broad.mit.edu 37 6 76022780 76022780 + Missense_Mutation SNP G G A TCGA-BJ-A2N9-01A-11D-A18F-08 TCGA-BJ-A2N9-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a00bec6-810b-4749-93e0-039659cbf4c9 b26431e2-7d3d-475e-bfdf-013f3306f45e g.chr6:76022780G>A uc010kbe.3 - 5 3307 c.2777C>T c.(2776-2778)gCg>gTg p.A926V FILIP1_uc003phy.1_Missense_Mutation_p.A923V|FILIP1_uc003phz.3_Missense_Mutation_p.A824V|FILIP1_uc003pia.3_Missense_Mutation_p.A923V|FILIP1_uc003pib.1_Missense_Mutation_p.A675V NM_015687 NP_056502 Q7Z7B0 FLIP1_HUMAN Homo sapiens filamin A interacting protein 1 (FILIP1), mRNA. 923 breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4) 80 CTCCAAAGTCGCAGTGCTGTT 0.473000 24 76 0 0 1 0 0 SEC14L4 284904 broad.mit.edu 37 22 30890948 30890948 + Splice_Site SNP G G A TCGA-BJ-A2N9-01A-11D-A18F-08 TCGA-BJ-A2N9-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a00bec6-810b-4749-93e0-039659cbf4c9 b26431e2-7d3d-475e-bfdf-013f3306f45e g.chr22:30890948G>A uc003aid.2 - 6 524 c.424_splice c.e6-1 p.L142_splice SEC14L4_uc011akz.1_Splice_Site_p.L142_splice|SEC14L4_uc003aie.2_Splice_Site_p.L127_splice|SEC14L4_uc003aif.2_Splice_Site_p.L88_splice NM_174977 NP_777637 Q9UDX3 S14L4_HUMAN Homo sapiens SEC14-like 4 (S. cerevisiae) (SEC14L4), transcript variant 1, mRNA. 142 CRAL-TRIO. integral to membrane|intracellular lipid binding|transporter activity breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|pancreas(1)|skin(1) 21 Vitamin E(DB00163) TTCCTGCCCAGCTGCTTGGGA 0.587000 11 34 0 0 1 0 0 UBR5 51366 broad.mit.edu 37 8 103297922 103297922 + Missense_Mutation SNP G G A TCGA-BJ-A2N9-01A-11D-A18F-08 TCGA-BJ-A2N9-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a00bec6-810b-4749-93e0-039659cbf4c9 b26431e2-7d3d-475e-bfdf-013f3306f45e g.chr8:103297922G>A uc003ykr.2 - 38 5758 c.5303C>T c.(5302-5304)gCt>gTt p.A1768V UBR5_uc003yks.2_Missense_Mutation_p.A1768V NM_015902 NP_056986 O95071 UBR5_HUMAN Homo sapiens ubiquitin protein ligase E3 component n-recognin 5 (UBR5), mRNA. 1768 Poly-Ala. cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus nucleus|soluble fraction RNA binding|protein binding|ubiquitin-ubiquitin ligase activity|zinc ion binding NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 124 all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05) OV - Ovarian serous cystadenocarcinoma(57;0.000442) AGCTTCCAAAGCAGCTGCTGC 0.463000 10 49 0 0 1 0 0 SLAMF1 6504 broad.mit.edu 37 1 160607074 160607074 + Missense_Mutation SNP G G A TCGA-BJ-A2N9-01A-11D-A18F-08 TCGA-BJ-A2N9-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a00bec6-810b-4749-93e0-039659cbf4c9 b26431e2-7d3d-475e-bfdf-013f3306f45e g.chr1:160607074G>A uc001fwl.4 - 1 668 c.322C>T c.(322-324)Cgg>Tgg p.R108W SLAMF1_uc010pjk.2_Non-coding_Transcript|SLAMF1_uc010pjl.2_Non-coding_Transcript|SLAMF1_uc010pjm.2_Non-coding_Transcript|SLAMF1_uc001fwm.3_Missense_Mutation_p.R108W NM_003037 NP_003028 Q13291 SLAF1_HUMAN Homo sapiens signaling lymphocytic activation molecule family member 1 (SLAMF1), mRNA. 108 interspecies interaction between organisms|lymphocyte activation|positive regulation of cell proliferation integral to membrane antigen binding|transmembrane receptor activity breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 25 all_cancers(52;4.94e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.0175) CTGCTTTCCCGTATCCCCAGG 0.468000 4 72 0 0 1 0 0 PCNT 5116 broad.mit.edu 37 21 47783836 47783836 + Silent SNP C C T TCGA-BJ-A2N9-01A-11D-A18F-08 TCGA-BJ-A2N9-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a00bec6-810b-4749-93e0-039659cbf4c9 b26431e2-7d3d-475e-bfdf-013f3306f45e g.chr21:47783836C>T uc002zji.4 + 13 2703 c.2596C>T c.(2596-2598)Ctg>Ttg p.L866L PCNT_uc002zjj.3_Silent_p.L748L NM_006031 NP_006022 O95613 PCNT_HUMAN Homo sapiens pericentrin (PCNT), mRNA. 866 G2/M transition of mitotic cell cycle|cilium assembly cytosol|microtubule calmodulin binding NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 104 Breast(49;0.112) GCAGCTGATGCTGGCCCGGAG 0.677000 3 91 0 0 1 0 0 LPIN3 64900 broad.mit.edu 37 20 39984584 39984584 + Silent SNP T T C TCGA-BJ-A2N9-01A-11D-A18F-08 TCGA-BJ-A2N9-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a00bec6-810b-4749-93e0-039659cbf4c9 b26431e2-7d3d-475e-bfdf-013f3306f45e g.chr20:39984584T>C uc010ggh.3 + 13 1807 c.1716T>C c.(1714-1716)ccT>ccC p.P572P LPIN3_uc002xjx.3_Silent_p.P571P|LPIN3_uc010zwf.2_Non-coding_Transcript NM_022896 NP_075047 Q9BQK8 LPIN3_HUMAN Homo sapiens lipin 3 (LPIN3), mRNA. 571 fatty acid metabolic process nucleus phosphatidate phosphatase activity breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(7)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 Myeloproliferative disorder(115;0.000739) CAGACAGCCCTGTGATCCTGG 0.592000 3 64 0 0 1 0 0 TCP11L2 255394 broad.mit.edu 37 12 106715426 106715426 + Missense_Mutation SNP G G C TCGA-BJ-A2N9-01A-11D-A18F-08 TCGA-BJ-A2N9-11A-11D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a00bec6-810b-4749-93e0-039659cbf4c9 bb3a19af-edb8-47af-8b53-7024b0ca12e2 g.chr12:106715426G>C uc001tln.3 + 4 751 c.577G>C c.(577-579)Gtg>Ctg p.V193L TCP11L2_uc001tll.3_Missense_Mutation_p.V193L|TCP11L2_uc001tlm.3_Missense_Mutation_p.V193L NM_152772 NP_689985 Q8N4U5 T11L2_HUMAN Homo sapiens t-complex 11 (mouse)-like 2 (TCP11L2), mRNA. 193 endometrium(2)|kidney(2)|large_intestine(5)|ovary(3)|prostate(1)|urinary_tract(2) 15 GTGTGCTCCCGTGCGAGATAA 0.493000 3 82 0 0 1 0 0 VWF 7450 broad.mit.edu 37 12 6204449 6204449 + Splice_Site SNP G G T TCGA-BJ-A2N9-01A-11D-A18F-08 TCGA-BJ-A2N9-11A-11D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a00bec6-810b-4749-93e0-039659cbf4c9 bb3a19af-edb8-47af-8b53-7024b0ca12e2 g.chr12:6204449G>T uc001qno.1 - 7 1326 c.945_splice c.e7+1 VWF_uc001qnn.1_Intron|VWF_uc010set.1_Intron P04275 VWF_HUMAN Homo sapiens von Willebrand factor (VWF), mRNA. blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization Weibel-Palade body|endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein N-terminus binding|protein homodimerization activity NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5) 129 Antihemophilic Factor(DB00025) CTCATTTTTAGAGCTTCAGGC 0.423000 3 21 0 0 1 0 0 ARVCF 421 broad.mit.edu 37 22 19960732 19960732 + Missense_Mutation SNP A A G TCGA-BJ-A2N9-01A-11D-A18F-08 TCGA-BJ-A2N9-11A-11D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a00bec6-810b-4749-93e0-039659cbf4c9 bb3a19af-edb8-47af-8b53-7024b0ca12e2 g.chr22:19960732A>G uc002zqz.3 - 13 2618 c.2348T>C c.(2347-2349)aTc>aCc p.I783T ARVCF_uc002zqy.3_Missense_Mutation_p.I299T NM_001670 NP_001661 O00192 ARVC_HUMAN Homo sapiens armadillo repeat gene deleted in velocardiofacial syndrome (ARVCF), mRNA. 783 cell adhesion|multicellular organismal development protein binding NS(1)|cervix(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|urinary_tract(2) 13 Colorectal(54;0.0993) GATTTCGTGGATGGTGTTGAG 0.672000 6 11 0 0 1 0 0 WDR45 11152 broad.mit.edu 37 X 48933589 48933589 + Missense_Mutation SNP C C A TCGA-BJ-A2N9-01A-11D-A18F-08 TCGA-BJ-A2N9-11A-11D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a00bec6-810b-4749-93e0-039659cbf4c9 bb3a19af-edb8-47af-8b53-7024b0ca12e2 g.chrX:48933589C>A uc004dml.1 - 6 627 c.455G>T c.(454-456)tGc>tTc p.C152F WDR45_uc004dmi.3_5'Flank|WDR45_uc011mmt.2_Missense_Mutation_p.C49F|WDR45_uc004dmj.1_Missense_Mutation_p.C112F|WDR45_uc004dmk.1_Missense_Mutation_p.C151F|WDR45_uc004dmn.1_Missense_Mutation_p.C42F|WDR45_uc004dmp.1_Missense_Mutation_p.C152F NM_007075 NP_009006 Q9Y484 WIPI4_HUMAN Homo sapiens WD repeat domain 45 (WDR45), transcript variant 1, mRNA. 151 autophagy|response to starvation organelle membrane phosphatidylinositol-3,5-bisphosphate binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1) 19 CAGGCTGGGGCAGAGGTCACA 0.597000 11 12 0 0 1 0 0 TBC1D24 57465 broad.mit.edu 37 16 2569368 2569368 + Missense_Mutation SNP G G T TCGA-BJ-A2N9-01A-11D-A18F-08 TCGA-BJ-A2N9-11A-11D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a00bec6-810b-4749-93e0-039659cbf4c9 bb3a19af-edb8-47af-8b53-7024b0ca12e2 g.chr16:2569368G>T uc002cqm.3 + 1 1230 c.1115G>T c.(1114-1116)cGc>cTc p.R372L ATP6V0C_uc021tav.1_Missense_Mutation_p.A77S|ATP6V0C_uc002cqn.3_Missense_Mutation_p.A77S|AMDHD2_uc002cqp.3_5'Flank|AMDHD2_uc002cqq.3_5'Flank|AMDHD2_uc010uwc.2_5'Flank|AMDHD2_uc010uwd.2_5'Flank NM_020705 NP_065756 Q9ULP9 TBC24_HUMAN Homo sapiens TBC1 domain family, member 24 (TBC1D24), transcript variant 2, mRNA. 0 TLD. neuron projection development cytoplasm Rab GTPase activator activity|protein binding endometrium(2)|kidney(4)|large_intestine(3)|lung(4) 13 AGTCCTCATCGCCAACTCCCT 0.612000 3 64 0 0 1 0 0 MYH1 4619 broad.mit.edu 37 17 10402290 10402290 + Splice_Site SNP C C A TCGA-BJ-A2N9-01A-11D-A18F-08 TCGA-BJ-A2N9-11A-11D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a00bec6-810b-4749-93e0-039659cbf4c9 bb3a19af-edb8-47af-8b53-7024b0ca12e2 g.chr17:10402290C>A uc002gmo.3 - 29 4078 c.3984_splice c.e29+1 p.K1328_splice AK097500_uc002gml.1_Intron NM_005963 NP_005954 P12882 MYH1_HUMAN Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA. 1328 muscle myosin complex|myofibril|myosin filament ATP binding|actin binding|calmodulin binding|motor activity NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5) 176 GTGGAGCTTACCTTTATCTCC 0.398000 5 56 0 0 1 0 0 SPOCK3 50859 broad.mit.edu 37 4 167810357 167810357 + Missense_Mutation SNP C C A TCGA-BJ-A2N9-01A-11D-A18F-08 TCGA-BJ-A2N9-11A-11D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a00bec6-810b-4749-93e0-039659cbf4c9 bb3a19af-edb8-47af-8b53-7024b0ca12e2 g.chr4:167810357C>A uc011cjq.1 - 4 606 c.549G>T c.(547-549)caG>caT p.Q183H SPOCK3_uc021xuf.1_Missense_Mutation_p.Q174H|SPOCK3_uc011cjr.1_Missense_Mutation_p.Q54H|SPOCK3_uc003iri.1_Missense_Mutation_p.Q174H|SPOCK3_uc011cjs.1_Missense_Mutation_p.Q123H|SPOCK3_uc003irj.1_Missense_Mutation_p.Q171H|SPOCK3_uc011cjt.1_Missense_Mutation_p.Q82H|SPOCK3_uc011cjp.2_Missense_Mutation_p.Q171H|SPOCK3_uc011cju.1_Missense_Mutation_p.Q78H|SPOCK3_uc011cjv.1_Missense_Mutation_p.Q76H|SPOCK3_uc003irk.4_Missense_Mutation_p.Q171H|SPOCK3_uc011cjw.1_Non-coding_Transcript NM_001204353 NP_001191282 Q9BQ16 TICN3_HUMAN Homo sapiens sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3 (SPOCK3), transcript variant 4, mRNA. 174 Kazal-like. signal transduction proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase inhibitor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 38 all_hematologic(180;0.221) Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198) GBM - Glioblastoma multiforme(119;0.02) TGACTGAGATCTGTTTTCCTA 0.328000 22 33 0 0 1 0 0 IDE 3416 broad.mit.edu 37 10 94214212 94214212 + Missense_Mutation SNP C C T TCGA-BJ-A2N9-01A-11D-A18F-08 TCGA-BJ-A2N9-11A-11D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a00bec6-810b-4749-93e0-039659cbf4c9 bb3a19af-edb8-47af-8b53-7024b0ca12e2 g.chr10:94214212C>T uc001kia.3 - 24 3125 c.3049G>A c.(3049-3051)Gca>Aca p.A1017T IDE_uc010qnp.2_Missense_Mutation_p.A462T|IDE_uc001khz.3_Missense_Mutation_p.A462T NM_004969 NP_004960 P14735 IDE_HUMAN Homo sapiens insulin-degrading enzyme (IDE), transcript variant 1, mRNA. 1017 beta-amyloid metabolic process|bradykinin catabolic process|interspecies interaction between organisms|sex differentiation cell surface|extracellular space|soluble fraction ATP binding|metalloendopeptidase activity|protein homodimerization activity|signal transducer activity|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|urinary_tract(2) 33 Bacitracin(DB00626)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) CAGAGTTTTGCAGCCATGAAG 0.433000 4 129 0 0 1 0 0 PTPRD 5789 broad.mit.edu 37 9 8499764 8499764 + Silent SNP G G A TCGA-BJ-A2N9-01A-11D-A18F-08 TCGA-BJ-A2N9-11A-11D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a00bec6-810b-4749-93e0-039659cbf4c9 bb3a19af-edb8-47af-8b53-7024b0ca12e2 g.chr9:8499764G>A uc003zkk.3 - 24 2948 c.2205C>T c.(2203-2205)ccC>ccT p.P735P PTPRD_uc003zkp.3_Intron|PTPRD_uc003zkq.3_Intron|PTPRD_uc003zkr.3_Intron|PTPRD_uc003zks.3_Intron|PTPRD_uc022bdj.1_Intron NM_002839 NP_002830 P23468 PTPRD_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, D (PTPRD), transcript variant 1, mRNA. 735 Fibronectin type-III 5. transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity p.P735P(1) NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 168 all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824) all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119) TATTGGGCACGGGTGAGCGCC 0.483000 TSP Lung(15;0.13) 3 89 0 0 1 0 0 RFWD2 64326 broad.mit.edu 37 1 176054931 176054931 + Silent SNP T T C TCGA-BJ-A2N9-01A-11D-A18F-08 TCGA-BJ-A2N9-11A-11D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a00bec6-810b-4749-93e0-039659cbf4c9 bb3a19af-edb8-47af-8b53-7024b0ca12e2 g.chr1:176054931T>C uc001gku.1 - 9 1378 c.1122A>G c.(1120-1122)acA>acG p.T374T RFWD2_uc001gkv.1_Silent_p.T350T|RFWD2_uc001gkw.1_Silent_p.T134T|RFWD2_uc009wwv.2_Silent_p.T173T|RFWD2_uc001gkt.1_Silent_p.T213T NM_022457 NP_071902 Q8NHY2 RFWD2_HUMAN Homo sapiens ring finger and WD repeat domain 2 (RFWD2), transcript variant 1, mRNA. 374 DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest centrosome|cytosol|focal adhesion|nuclear speck protein binding|ubiquitin-protein ligase activity|zinc ion binding p.T374I(1) endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 30 GAGACATCCTTGTAGAAAAGT 0.348000 3 86 0 0 1 0 0 FILIP1 27145 broad.mit.edu 37 6 76022780 76022780 + Missense_Mutation SNP G G A TCGA-BJ-A2N9-01A-11D-A18F-08 TCGA-BJ-A2N9-11A-11D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a00bec6-810b-4749-93e0-039659cbf4c9 bb3a19af-edb8-47af-8b53-7024b0ca12e2 g.chr6:76022780G>A uc010kbe.3 - 5 3307 c.2777C>T c.(2776-2778)gCg>gTg p.A926V FILIP1_uc003phy.1_Missense_Mutation_p.A923V|FILIP1_uc003phz.3_Missense_Mutation_p.A824V|FILIP1_uc003pia.3_Missense_Mutation_p.A923V|FILIP1_uc003pib.1_Missense_Mutation_p.A675V NM_015687 NP_056502 Q7Z7B0 FLIP1_HUMAN Homo sapiens filamin A interacting protein 1 (FILIP1), mRNA. 923 breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4) 80 CTCCAAAGTCGCAGTGCTGTT 0.473000 24 76 0 0 1 0 0 SEC14L4 284904 broad.mit.edu 37 22 30890948 30890948 + Splice_Site SNP G G A TCGA-BJ-A2N9-01A-11D-A18F-08 TCGA-BJ-A2N9-11A-11D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a00bec6-810b-4749-93e0-039659cbf4c9 bb3a19af-edb8-47af-8b53-7024b0ca12e2 g.chr22:30890948G>A uc003aid.2 - 6 524 c.424_splice c.e6-1 p.L142_splice SEC14L4_uc011akz.1_Splice_Site_p.L142_splice|SEC14L4_uc003aie.2_Splice_Site_p.L127_splice|SEC14L4_uc003aif.2_Splice_Site_p.L88_splice NM_174977 NP_777637 Q9UDX3 S14L4_HUMAN Homo sapiens SEC14-like 4 (S. cerevisiae) (SEC14L4), transcript variant 1, mRNA. 142 CRAL-TRIO. integral to membrane|intracellular lipid binding|transporter activity breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|pancreas(1)|skin(1) 21 Vitamin E(DB00163) TTCCTGCCCAGCTGCTTGGGA 0.587000 11 34 0 0 1 0 0 UBR5 51366 broad.mit.edu 37 8 103297922 103297922 + Missense_Mutation SNP G G A TCGA-BJ-A2N9-01A-11D-A18F-08 TCGA-BJ-A2N9-11A-11D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a00bec6-810b-4749-93e0-039659cbf4c9 bb3a19af-edb8-47af-8b53-7024b0ca12e2 g.chr8:103297922G>A uc003ykr.2 - 38 5758 c.5303C>T c.(5302-5304)gCt>gTt p.A1768V UBR5_uc003yks.2_Missense_Mutation_p.A1768V NM_015902 NP_056986 O95071 UBR5_HUMAN Homo sapiens ubiquitin protein ligase E3 component n-recognin 5 (UBR5), mRNA. 1768 Poly-Ala. cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus nucleus|soluble fraction RNA binding|protein binding|ubiquitin-ubiquitin ligase activity|zinc ion binding NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 124 all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05) OV - Ovarian serous cystadenocarcinoma(57;0.000442) AGCTTCCAAAGCAGCTGCTGC 0.463000 10 49 0 0 1 0 0 SLAMF1 6504 broad.mit.edu 37 1 160607074 160607074 + Missense_Mutation SNP G G A TCGA-BJ-A2N9-01A-11D-A18F-08 TCGA-BJ-A2N9-11A-11D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a00bec6-810b-4749-93e0-039659cbf4c9 bb3a19af-edb8-47af-8b53-7024b0ca12e2 g.chr1:160607074G>A uc001fwl.4 - 1 668 c.322C>T c.(322-324)Cgg>Tgg p.R108W SLAMF1_uc010pjk.2_Non-coding_Transcript|SLAMF1_uc010pjl.2_Non-coding_Transcript|SLAMF1_uc010pjm.2_Non-coding_Transcript|SLAMF1_uc001fwm.3_Missense_Mutation_p.R108W NM_003037 NP_003028 Q13291 SLAF1_HUMAN Homo sapiens signaling lymphocytic activation molecule family member 1 (SLAMF1), mRNA. 108 interspecies interaction between organisms|lymphocyte activation|positive regulation of cell proliferation integral to membrane antigen binding|transmembrane receptor activity breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 25 all_cancers(52;4.94e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.0175) CTGCTTTCCCGTATCCCCAGG 0.468000 4 72 0 0 1 0 0 PCNT 5116 broad.mit.edu 37 21 47783836 47783836 + Silent SNP C C T TCGA-BJ-A2N9-01A-11D-A18F-08 TCGA-BJ-A2N9-11A-11D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a00bec6-810b-4749-93e0-039659cbf4c9 bb3a19af-edb8-47af-8b53-7024b0ca12e2 g.chr21:47783836C>T uc002zji.4 + 13 2703 c.2596C>T c.(2596-2598)Ctg>Ttg p.L866L PCNT_uc002zjj.3_Silent_p.L748L NM_006031 NP_006022 O95613 PCNT_HUMAN Homo sapiens pericentrin (PCNT), mRNA. 866 G2/M transition of mitotic cell cycle|cilium assembly cytosol|microtubule calmodulin binding NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 104 Breast(49;0.112) GCAGCTGATGCTGGCCCGGAG 0.677000 3 91 0 0 1 0 0 LPIN3 64900 broad.mit.edu 37 20 39984584 39984584 + Silent SNP T T C TCGA-BJ-A2N9-01A-11D-A18F-08 TCGA-BJ-A2N9-11A-11D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a00bec6-810b-4749-93e0-039659cbf4c9 bb3a19af-edb8-47af-8b53-7024b0ca12e2 g.chr20:39984584T>C uc010ggh.3 + 13 1807 c.1716T>C c.(1714-1716)ccT>ccC p.P572P LPIN3_uc002xjx.3_Silent_p.P571P|LPIN3_uc010zwf.2_Non-coding_Transcript NM_022896 NP_075047 Q9BQK8 LPIN3_HUMAN Homo sapiens lipin 3 (LPIN3), mRNA. 571 fatty acid metabolic process nucleus phosphatidate phosphatase activity breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(7)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 Myeloproliferative disorder(115;0.000739) CAGACAGCCCTGTGATCCTGG 0.592000 3 64 0 0 1 0 0