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 ZNF37A 7587 broad.mit.edu 37 10 38407123 38407123 + Silent SNP G G A rs149714320 byFrequency TCGA-T3-A92N-01A-11D-A391-08 TCGA-T3-A92N-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40005278-5569-44a5-94a2-9311946aa7ca 8e5216b7-93fa-440f-bf1a-c304f42b98da g.chr10:38407123G>A ENST00000351773.3 + 8 1874 c.1044G>A c.(1042-1044)acG>acA p.T348T ZNF37A_ENST00000361085.4_Silent_p.T348T NM_001007094.2 NP_001007095.1 P17032 ZN37A_HUMAN zinc finger protein 37A 348 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|prostate(1) 28 ATCAAAGAACGCACACAGGGG 0.413000 24 81 0 0 1 0 0 LONRF2 164832 broad.mit.edu 37 2 100912016 100912016 + Splice_Site SNP C C T TCGA-T3-A92N-01A-11D-A391-08 TCGA-T3-A92N-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40005278-5569-44a5-94a2-9311946aa7ca 8e5216b7-93fa-440f-bf1a-c304f42b98da g.chr2:100912016C>T ENST00000393437.3 - 8 2116 c.e8-1 LONRF2_ENST00000409647.1_Splice_Site NM_198461.3 NP_940863.3 Q1L5Z9 LONF2_HUMAN LON peptidase N-terminal domain and ring finger 2 proteolysis ATP-dependent peptidase activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 34 TTGCCAATAACTGTAACAAAA 0.378000 46 50 0 0 1 0 0 PPFIA3 8541 broad.mit.edu 37 19 49640025 49640025 + Silent SNP C C T TCGA-T3-A92N-01A-11D-A391-08 TCGA-T3-A92N-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40005278-5569-44a5-94a2-9311946aa7ca 8e5216b7-93fa-440f-bf1a-c304f42b98da g.chr19:49640025C>T ENST00000334186.4 + 15 2059 c.1710C>T c.(1708-1710)ttC>ttT p.F570F PPFIA3_ENST00000602351.1_Silent_p.F570F NM_003660.2 NP_003651.1 O75145 LIPA3_HUMAN protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3 570 cell surface|cytoplasm protein binding NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(16)|pancreas(1)|prostate(1)|skin(4)|urinary_tract(1) 35 all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392) all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677) CACCCCCATTCCCTGGGGAAC 0.667000 4 9 0 0 1 0 0 FAM71B 153745 broad.mit.edu 37 5 156590520 156590520 + Silent SNP C C A rs144904764 by1000genomes TCGA-T3-A92N-01A-11D-A391-08 TCGA-T3-A92N-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40005278-5569-44a5-94a2-9311946aa7ca 8e5216b7-93fa-440f-bf1a-c304f42b98da g.chr5:156590520C>A ENST00000302938.4 - 2 851 c.756G>T c.(754-756)acG>acT p.T252T NM_130899.2 NP_570969.2 Q8TC56 FA71B_HUMAN family with sequence similarity 71, member B 252 Ala-rich. nucleus NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 68 Renal(175;0.00212) Medulloblastoma(196;0.0523)|all_neural(177;0.21) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) CTGGAGTGCTCGTGGATGGAG 0.577000 57 51 1.03172e-35 1.15886e-35 1 1 0 CHD9 80205 broad.mit.edu 37 16 53338091 53338091 + Missense_Mutation SNP C C G TCGA-T3-A92N-01A-11D-A391-08 TCGA-T3-A92N-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40005278-5569-44a5-94a2-9311946aa7ca 8e5216b7-93fa-440f-bf1a-c304f42b98da g.chr16:53338091C>G ENST00000566029.1 + 31 6382 c.6173C>G c.(6172-6174)tCt>tGt p.S2058C CHD9_ENST00000447540.1_Missense_Mutation_p.S2058C|CHD9_ENST00000564845.1_Missense_Mutation_p.S2058C|CHD9_ENST00000398510.3_Missense_Mutation_p.S2058C Q3L8U1 CHD9_HUMAN chromodomain helicase DNA binding protein 9 2058 cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleoplasm ATP binding|DNA binding|helicase activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 78 all_cancers(37;0.0212) GAGCCTCAGTCTTCTGAAGAA 0.413000 11 19 0 0 1 0 0 AGMO 392636 broad.mit.edu 37 7 15405151 15405151 + Silent SNP T T A TCGA-T3-A92N-01A-11D-A391-08 TCGA-T3-A92N-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40005278-5569-44a5-94a2-9311946aa7ca 8e5216b7-93fa-440f-bf1a-c304f42b98da g.chr7:15405151T>A ENST00000342526.3 - 12 1420 c.1251A>T c.(1249-1251)tcA>tcT p.S417S NM_001004320.1 NP_001004320.1 Q6ZNB7 ALKMO_HUMAN alkylglycerol monooxygenase 417 ether lipid metabolic process|fatty acid biosynthetic process|membrane lipid metabolic process endoplasmic reticulum membrane|integral to membrane glyceryl-ether monooxygenase activity|iron ion binding breast(1)|kidney(1)|large_intestine(6)|liver(1)|lung(30)|prostate(1)|skin(2) 42 CAAAAGCAGATGACAATGAAG 0.403000 10 20 0 0 1 0 0 TTF1 7270 broad.mit.edu 37 9 135251303 135251303 + Silent SNP C C T TCGA-T3-A92N-01A-11D-A391-08 TCGA-T3-A92N-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40005278-5569-44a5-94a2-9311946aa7ca 8e5216b7-93fa-440f-bf1a-c304f42b98da g.chr9:135251303C>T ENST00000334270.2 - 11 2756 c.2717G>A c.(2716-2718)tGa>tAa p.*906* TTF1_ENST00000461970.1_5'UTR NM_001205296.1|NM_007344.3 NP_001192225.1|NP_031370.2 Q15361 TTF1_HUMAN transcription termination factor, RNA polymerase I 0 negative regulation of DNA replication|regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription nucleolus|nucleoplasm DNA binding endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05) ctcctgacctcagatgatcca 0.507000 5 11 0 0 1 0 0 KPNB1 3837 broad.mit.edu 37 17 45742519 45742519 + Missense_Mutation SNP A A C TCGA-T3-A92N-01A-11D-A391-08 TCGA-T3-A92N-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40005278-5569-44a5-94a2-9311946aa7ca 8e5216b7-93fa-440f-bf1a-c304f42b98da g.chr17:45742519A>C ENST00000290158.4 + 9 1401 c.994A>C c.(994-996)Aaa>Caa p.K332Q KPNB1_ENST00000540627.1_Missense_Mutation_p.K187Q|KPNB1_ENST00000537679.1_Intron|KPNB1_ENST00000535458.2_Missense_Mutation_p.K187Q NM_001276453.1|NM_002265.4 NP_001263382.1|NP_002256.2 Q14974 IMB1_HUMAN karyopherin (importin) beta 1 332 IAB-binding. DNA fragmentation involved in apoptotic nuclear change|NLS-bearing substrate import into nucleus|protein import into nucleus, translocation|ribosomal protein import into nucleus|viral genome transport in host cell|viral infectious cycle cytosol|nuclear pore|nucleoplasm nuclear localization sequence binding|protein domain specific binding|zinc ion binding breast(1)|ovary(1)|pancreas(1)|skin(1) 4 GACACTAACTAAACAGGTGAG 0.473000 9 27 0 0 1 0 0 FBXO41 150726 broad.mit.edu 37 2 73492558 73492558 + Silent SNP G G T TCGA-T3-A92N-01A-11D-A391-08 TCGA-T3-A92N-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40005278-5569-44a5-94a2-9311946aa7ca 8e5216b7-93fa-440f-bf1a-c304f42b98da g.chr2:73492558G>T ENST00000521871.1 - 5 1831 c.1416C>A c.(1414-1416)cgC>cgA p.R472R FBXO41_ENST00000295133.5_Silent_p.R533R|FBXO41_ENST00000520530.2_Silent_p.R472R Q8TF61 FBX41_HUMAN F-box protein 41 472 intracellular protein binding|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(1)|lung(6)|pancreas(1)|prostate(1)|skin(1) 13 GGCGGGGTCTGCGCTGCCAGT 0.701000 19 17 5.35267e-07 5.51557e-07 1 1 0 DNTTIP2 30836 broad.mit.edu 37 1 94342497 94342497 + Nonsense_Mutation SNP G G A TCGA-T3-A92N-01A-11D-A391-08 TCGA-T3-A92N-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40005278-5569-44a5-94a2-9311946aa7ca 8e5216b7-93fa-440f-bf1a-c304f42b98da g.chr1:94342497G>A ENST00000436063.2 - 2 1051 c.994C>T c.(994-996)Caa>Taa p.Q332* DNTTIP2_ENST00000460191.1_5'UTR NM_014597.4 NP_055412.2 Q5QJE6 TDIF2_HUMAN deoxynucleotidyltransferase, terminal, interacting protein 2 332 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus NS(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 38 all_lung(203;0.0111)|Lung NSC(277;0.0347) all cancers(265;0.00679)|GBM - Glioblastoma multiforme(16;0.0278)|Epithelial(280;0.128) ACTAACTGTTGAAGGCTAGTG 0.378000 12 40 0 0 1 0 0 KBTBD7 84078 broad.mit.edu 37 13 41767894 41767894 + Missense_Mutation SNP C C T TCGA-T3-A92N-01A-11D-A391-08 TCGA-T3-A92N-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40005278-5569-44a5-94a2-9311946aa7ca 8e5216b7-93fa-440f-bf1a-c304f42b98da g.chr13:41767894C>T ENST00000379483.3 - 1 808 c.500G>A c.(499-501)cGt>cAt p.R167H NM_032138.4 NP_115514.2 Q8WVZ9 KBTB7_HUMAN kelch repeat and BTB (POZ) domain containing 7 167 protein binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(4)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 24 Lung NSC(96;0.000105)|Breast(139;0.00715)|Prostate(109;0.0233)|Lung SC(185;0.0367) all cancers(112;6.21e-09)|Epithelial(112;6.99e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000196)|GBM - Glioblastoma multiforme(144;0.000857)|BRCA - Breast invasive adenocarcinoma(63;0.0669) CAGGTCAAGACGTCGGGCTAA 0.567000 23 62 0 0 1 0 0 TMEM186 25880 broad.mit.edu 37 16 8890157 8890157 + Silent SNP G G T TCGA-T3-A92N-01A-11D-A391-08 TCGA-T3-A92N-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40005278-5569-44a5-94a2-9311946aa7ca 8e5216b7-93fa-440f-bf1a-c304f42b98da g.chr16:8890157G>T ENST00000333050.6 - 2 327 c.294C>A c.(292-294)ctC>ctA p.L98L PMM2_ENST00000566983.1_Intron|TMEM186_ENST00000564869.1_Intron NM_015421.3 NP_056236.2 Q96B77 TM186_HUMAN transmembrane protein 186 98 integral to membrane|mitochondrion NS(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 9 TGTTGAGAGTGAGGAGGCCCT 0.537000 19 32 1.67942e-08 1.76116e-08 1 1 0 TMEM91 641649 broad.mit.edu 37 19 41889762 41889762 + Missense_Mutation SNP C C A TCGA-T3-A92N-01A-11D-A391-08 TCGA-T3-A92N-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40005278-5569-44a5-94a2-9311946aa7ca 8e5216b7-93fa-440f-bf1a-c304f42b98da g.chr19:41889762C>A ENST00000392002.2 + 4 1163 c.503C>A c.(502-504)tCc>tAc p.S168Y TMEM91_ENST00000356385.4_3'UTR|TMEM91_ENST00000604123.1_Intron|BCKDHA_ENST00000595085.1_Intron|TMEM91_ENST00000447302.2_Intron|CTC-435M10.3_ENST00000540732.1_Intron|TMEM91_ENST00000413014.2_Intron|TMEM91_ENST00000542945.1_3'UTR|TMEM91_ENST00000539627.1_3'UTR|TMEM91_ENST00000436170.2_Intron|TMEM91_ENST00000544232.1_Intron NM_001098821.1 NP_001092291.1 transmembrane protein 91 lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 5 TACCTTGCCTCCCGAGACCCG 0.672000 10 25 1.33987e-11 1.44341e-11 1 1 0 PCDHGB1 56104 broad.mit.edu 37 5 140731304 140731304 + Missense_Mutation SNP G G A TCGA-T3-A92N-01A-11D-A391-08 TCGA-T3-A92N-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40005278-5569-44a5-94a2-9311946aa7ca 8e5216b7-93fa-440f-bf1a-c304f42b98da g.chr5:140731304G>A ENST00000523390.1 + 1 1477 c.1477G>A c.(1477-1479)Gag>Aag p.E493K PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron NM_018922.2|NM_032095.1 NP_061745.1|NP_115266.1 central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1) 16 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CAGTGACCTGGAGCCGCGGGA 0.647000 51 60 0 0 1 0 0 HOXD3 3232 broad.mit.edu 37 2 177033996 177033996 + Missense_Mutation SNP C C T TCGA-T3-A92N-01A-11D-A391-08 TCGA-T3-A92N-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40005278-5569-44a5-94a2-9311946aa7ca 8e5216b7-93fa-440f-bf1a-c304f42b98da g.chr2:177033996C>T ENST00000468418.3 + 3 2244 c.154C>T c.(154-156)Ccc>Tcc p.P52S HOXD3_ENST00000410016.1_Missense_Mutation_p.P52S|HOXD3_ENST00000249440.3_Missense_Mutation_p.P52S P31249 HXD3_HUMAN homeobox D3 52 anterior/posterior pattern formation|cartilage development|cell-matrix adhesion|embryonic skeletal system morphogenesis|Notch signaling pathway|positive regulation of gene expression|positive regulation of neuron differentiation|thyroid gland development sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(11)|prostate(1)|upper_aerodigestive_tract(2) 23 OV - Ovarian serous cystadenocarcinoma(117;0.00569)|Epithelial(96;0.0864)|all cancers(119;0.226) Colorectal(32;0.247) GCCCTACCCACCCCCTGCTGC 0.587000 19 56 0 0 1 0 0 CELSR1 9620 broad.mit.edu 37 22 46859976 46859976 + Missense_Mutation SNP G G A TCGA-T3-A92N-01A-11D-A391-08 TCGA-T3-A92N-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40005278-5569-44a5-94a2-9311946aa7ca 8e5216b7-93fa-440f-bf1a-c304f42b98da g.chr22:46859976G>A ENST00000262738.3 - 2 3810 c.3811C>T c.(3811-3813)Cgc>Tgc p.R1271C CELSR1_ENST00000395964.1_Missense_Mutation_p.R1271C NM_014246.1 NP_055061.1 Q9NYQ6 CELR1_HUMAN cadherin, EGF LAG seven-pass G-type receptor 1 1271 central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway integral to plasma membrane calcium ion binding|G-protein coupled receptor activity|protein dimerization activity breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3) 95 Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766) UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171) AACTGGCCGCGGACGCCGCCA 0.627000 23 79 0 0 1 0 0 FARSB 10056 broad.mit.edu 37 2 223504411 223504411 + Missense_Mutation SNP C C A TCGA-T3-A92N-01A-11D-A391-08 TCGA-T3-A92N-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40005278-5569-44a5-94a2-9311946aa7ca 8e5216b7-93fa-440f-bf1a-c304f42b98da g.chr2:223504411C>A ENST00000281828.6 - 5 606 c.343G>T c.(343-345)Gct>Tct p.A115S FARSB_ENST00000536361.1_Missense_Mutation_p.A16S NM_005687.3 NP_005678.3 Q9NSD9 SYFB_HUMAN phenylalanyl-tRNA synthetase, beta subunit 115 phenylalanyl-tRNA aminoacylation cytosol|soluble fraction ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|RNA binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 24 Renal(207;0.0183) Epithelial(121;3.47e-10)|all cancers(144;1.86e-07)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.011) L-Phenylalanine(DB00120) CGTATCTTAGCTGTCTGAAAT 0.363000 22 13 4.35082e-09 4.60332e-09 1 1 0 GLG1 2734 broad.mit.edu 37 16 74526880 74526880 + Missense_Mutation SNP C C T TCGA-T3-A92N-01A-11D-A391-08 TCGA-T3-A92N-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40005278-5569-44a5-94a2-9311946aa7ca 8e5216b7-93fa-440f-bf1a-c304f42b98da g.chr16:74526880C>T ENST00000422840.2 - 7 1208 c.1209G>A c.(1207-1209)atG>atA p.M403I GLG1_ENST00000205061.5_Missense_Mutation_p.M403I|GLG1_ENST00000447066.2_Missense_Mutation_p.M392I NM_001145667.1 NP_001139139.1 Q92896 GSLG1_HUMAN golgi glycoprotein 1 403 Golgi membrane|integral to membrane receptor binding breast(2)|cervix(2)|endometrium(6)|kidney(8)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(1) 57 ACTCCAGGCACATTAACAAGT 0.383000 19 46 0 0 1 0 0 C2CD5 9847 broad.mit.edu 37 12 22680748 22680748 + Missense_Mutation SNP T T G TCGA-T3-A92N-01A-11D-A391-08 TCGA-T3-A92N-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40005278-5569-44a5-94a2-9311946aa7ca 8e5216b7-93fa-440f-bf1a-c304f42b98da g.chr12:22680748T>G ENST00000333957.4 - 4 511 c.256A>C c.(256-258)Att>Ctt p.I86L C2CD5_ENST00000536386.1_Missense_Mutation_p.I86L|C2CD5_ENST00000544930.1_5'UTR|C2CD5_ENST00000545552.1_Missense_Mutation_p.I86L|C2CD5_ENST00000542676.1_Missense_Mutation_p.I86L|C2CD5_ENST00000446597.1_Missense_Mutation_p.I86L|C2CD5_ENST00000396028.2_Missense_Mutation_p.I86L NM_014802.1 NP_055617.1 C2 calcium-dependent domain containing 5 ACTTTACCAATGGCATCATTT 0.363000 93 86 0 0 1 0 0 SLC22A7 10864 broad.mit.edu 37 6 43269995 43269995 + Silent SNP G G A TCGA-T3-A92N-01A-11D-A391-08 TCGA-T3-A92N-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40005278-5569-44a5-94a2-9311946aa7ca 8e5216b7-93fa-440f-bf1a-c304f42b98da g.chr6:43269995G>A ENST00000372585.5 + 8 1214 c.1119G>A c.(1117-1119)ctG>ctA p.L373L SLC22A7_ENST00000372574.3_Silent_p.L371L|SLC22A7_ENST00000372589.3_Silent_p.L371L NM_153320.2 NP_696961.2 Q9Y694 S22A7_HUMAN solute carrier family 22 (organic anion transporter), member 7 373 basolateral plasma membrane|integral to plasma membrane|membrane fraction anion:anion antiporter activity|sodium-independent organic anion transmembrane transporter activity NS(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(3) 26 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305) GGCTGGGGCTGAACGTGTACC 0.597000 19 48 0 0 1 0 0 MAP3K2 10746 broad.mit.edu 37 2 128075777 128075777 + Nonsense_Mutation SNP G G A TCGA-T3-A92N-01A-11D-A391-08 TCGA-T3-A92N-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40005278-5569-44a5-94a2-9311946aa7ca 8e5216b7-93fa-440f-bf1a-c304f42b98da g.chr2:128075777G>A ENST00000409947.1 - 13 1444 c.1162C>T c.(1162-1164)Caa>Taa p.Q388* MAP3K2_ENST00000344908.5_Nonsense_Mutation_p.Q388* Q9Y2U5 M3K2_HUMAN mitogen-activated protein kinase kinase kinase 2 388 Protein kinase. activation of JUN kinase activity|cellular response to mechanical stimulus nucleus ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein kinase binding central_nervous_system(1)|large_intestine(1)|lung(3)|ovary(2) 7 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0706) GGGTCAAATTGAACTTGCTTA 0.383000 32 126 0 0 1 0 0 ZNF672 79894 broad.mit.edu 37 1 249142661 249142661 + Missense_Mutation SNP G G T TCGA-T3-A92N-01A-11D-A391-08 TCGA-T3-A92N-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40005278-5569-44a5-94a2-9311946aa7ca 8e5216b7-93fa-440f-bf1a-c304f42b98da g.chr1:249142661G>T ENST00000306562.3 + 4 1934 c.1188G>T c.(1186-1188)gaG>gaT p.E396D NM_024836.1 NP_079112.1 Q499Z4 ZN672_HUMAN zinc finger protein 672 396 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(2)|large_intestine(1) 5 all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199) all_cancers(173;0.19) OV - Ovarian serous cystadenocarcinoma(106;0.00805) GGCCAGCGGAGTGCGCAGAGT 0.677000 14 19 4.3838e-07 4.53695e-07 1 1 0 DNAJC14 85406 broad.mit.edu 37 12 56221719 56221719 + Missense_Mutation SNP C C T TCGA-T3-A92N-01A-11D-A391-08 TCGA-T3-A92N-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40005278-5569-44a5-94a2-9311946aa7ca 8e5216b7-93fa-440f-bf1a-c304f42b98da g.chr12:56221719C>T ENST00000357606.3 - 3 1013 c.724G>A c.(724-726)Gag>Aag p.E242K DNAJC14_ENST00000317287.5_Missense_Mutation_p.E242K|DNAJC14_ENST00000317269.3_Missense_Mutation_p.E242K Q6Y2X3 DJC14_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 14 242 protein folding|protein transport endoplasmic reticulum membrane|integral to membrane heat shock protein binding|unfolded protein binding breast(2)|kidney(1)|large_intestine(8)|lung(7)|ovary(3)|prostate(1)|skin(1) 23 CATAGTTCCTCGGCTCCCCAC 0.557000 27 50 0 0 1 0 0 PML 5371 broad.mit.edu 37 15 74327717 74327717 + Missense_Mutation SNP C C T TCGA-T3-A92N-01A-11D-A391-08 TCGA-T3-A92N-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40005278-5569-44a5-94a2-9311946aa7ca 8e5216b7-93fa-440f-bf1a-c304f42b98da g.chr15:74327717C>T ENST00000268059.6 + 8 2011 c.1915C>T c.(1915-1917)Cac>Tac p.H639Y PML_ENST00000569965.1_Intron|PML_ENST00000569477.1_3'UTR|PML_ENST00000564428.1_Intron|PML_ENST00000436891.3_3'UTR|PML_ENST00000354026.6_Missense_Mutation_p.H591Y|PML_ENST00000395132.2_Intron|PML_ENST00000395135.3_Intron|PML_ENST00000435786.2_3'UTR|PML_ENST00000359928.4_Intron|PML_ENST00000565898.1_Intron|PML_ENST00000268058.3_Intron|PML_ENST00000563500.1_3'UTR NM_033239.2|NM_033244.3 NP_150242.1|NP_150247.2 P29590 PML_HUMAN promyelocytic leukemia 36 cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction resulting in induction of apoptosis|endoplasmic reticulum calcium ion homeostasis|induction of apoptosis|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|maintenance of protein location in nucleus|negative regulation of angiogenesis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of mitotic cell cycle|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|negative regulation of telomerase activity|negative regulation of telomere maintenance via telomerase|negative regulation of transcription, DNA-dependent|negative regulation of translation in response to oxidative stress|PML body organization|positive regulation of defense response to virus by host|positive regulation of histone deacetylation|protein complex assembly|protein stabilization|protein targeting|regulation of calcium ion transport into cytosol|regulation of protein phosphorylation|response to hypoxia|response to virus|transcription, DNA-dependent cytoplasm|cytosol|early endosome membrane|extrinsic to endoplasmic reticulum membrane|insoluble fraction|nuclear matrix|nuclear membrane|nucleolus|nucleus|PML body cobalt ion binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|SUMO binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 31 TGCTGAGCCTCACAGCGAGCC 0.667000 T """RARA, PAX5""" """APL, ALL""" 54 63 0 0 1 0 0 CPM 1368 broad.mit.edu 37 12 69263255 69263255 + Nonsense_Mutation SNP G G A TCGA-T3-A92N-01A-11D-A391-08 TCGA-T3-A92N-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40005278-5569-44a5-94a2-9311946aa7ca 8e5216b7-93fa-440f-bf1a-c304f42b98da g.chr12:69263255G>A ENST00000551568.1 - 6 697 c.637C>T c.(637-639)Cga>Tga p.R213* CPM_ENST00000338356.3_Nonsense_Mutation_p.R213*|CPM_ENST00000546373.1_Nonsense_Mutation_p.R213* NM_001005502.2|NM_198320.3 NP_001005502.1|NP_938079.1 P14384 CBPM_HUMAN carboxypeptidase M 213 anatomical structure morphogenesis|proteolysis anchored to membrane|cytoplasm|nucleus|plasma membrane metallocarboxypeptidase activity|zinc ion binding large_intestine(1)|lung(6)|prostate(2) 9 all_epithelial(5;1.09e-35)|Lung NSC(4;1.47e-33)|all_lung(4;1.02e-31)|Breast(13;1.59e-06) all cancers(2;2.69e-50)|GBM - Glioblastoma multiforme(2;7.34e-41)|BRCA - Breast invasive adenocarcinoma(5;5.38e-10)|Lung(24;4.61e-05)|LUAD - Lung adenocarcinoma(15;0.000376)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143) GTTAAGCTTCGGGAGTATAAT 0.373000 34 54 0 0 1 0 0 NBPF1 55672 broad.mit.edu 37 1 16890647 16890647 + Missense_Mutation SNP C C T TCGA-T3-A92N-01A-11D-A391-08 TCGA-T3-A92N-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40005278-5569-44a5-94a2-9311946aa7ca 8e5216b7-93fa-440f-bf1a-c304f42b98da g.chr1:16890647C>T ENST00000430580.2 - 29 4098 c.3211G>A c.(3211-3213)Gaa>Aaa p.E1071K NM_017940.3 NP_060410.2 Q3BBV0 NBPF1_HUMAN neuroblastoma breakpoint family, member 1 1051 NBPF 7. cytoplasm UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179) TGCAAGACTTCAGGCTCTTCC 0.463000 68 675 0 0 1 0 0 ZKSCAN8 7745 broad.mit.edu 37 6 28120136 28120136 + Missense_Mutation SNP A A T TCGA-T3-A92N-01A-11D-A391-08 TCGA-T3-A92N-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40005278-5569-44a5-94a2-9311946aa7ca 8e5216b7-93fa-440f-bf1a-c304f42b98da g.chr6:28120136A>T ENST00000330236.6 + 5 933 c.749A>T c.(748-750)gAa>gTa p.E250V ZKSCAN8_ENST00000457389.2_Missense_Mutation_p.E250V NM_001278119.1|NM_001278121.1|NM_001278122.1|NM_006298.2 NP_001265048.1|NP_001265050.1|NP_001265051.1|NP_006289.2 zinc finger with KRAB and SCAN domains 8 AACAGGCCAGAAAATTTCAGA 0.393000 37 74 0 0 1 0 0 LCT 3938 broad.mit.edu 37 2 136581548 136581548 + Missense_Mutation SNP A A G TCGA-T3-A92N-01A-11D-A391-08 TCGA-T3-A92N-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40005278-5569-44a5-94a2-9311946aa7ca 8e5216b7-93fa-440f-bf1a-c304f42b98da g.chr2:136581548A>G ENST00000264162.2 - 4 840 c.830T>C c.(829-831)tTc>tCc p.F277S NM_002299.2 NP_002290.2 P09848 LPH_HUMAN lactase 277 4 X approximate repeats. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|integral to plasma membrane|membrane fraction cation binding|glycosylceramidase activity|lactase activity breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4) 124 BRCA - Breast invasive adenocarcinoma(221;0.169) GTTGAAGATGAAAACTTTCAC 0.473000 32 13 0 0 1 0 0 TRPM2 7226 broad.mit.edu 37 21 45821664 45821664 + Missense_Mutation SNP G G A TCGA-T3-A92N-01A-11D-A391-08 TCGA-T3-A92N-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40005278-5569-44a5-94a2-9311946aa7ca 8e5216b7-93fa-440f-bf1a-c304f42b98da g.chr21:45821664G>A ENST00000397928.1 + 16 2867 c.2422G>A c.(2422-2424)Gcc>Acc p.A808T TRPM2_ENST00000300482.5_Missense_Mutation_p.A808T|TRPM2_ENST00000397932.2_Missense_Mutation_p.A808T|TRPM2_ENST00000300481.9_Missense_Mutation_p.A788T|TRPM2_ENST00000498430.1_3'UTR NM_003307.3 NP_003298.1 O94759 TRPM2_HUMAN transient receptor potential cation channel, subfamily M, member 2 808 integral to plasma membrane ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 76 CTCCTACTTCGCCTTCCTCTG 0.632000 129 47 0 0 1 0 0 IL7 3574 broad.mit.edu 37 8 79646064 79646064 + Missense_Mutation SNP C C G TCGA-T3-A92N-01A-11D-A391-08 TCGA-T3-A92N-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40005278-5569-44a5-94a2-9311946aa7ca 8e5216b7-93fa-440f-bf1a-c304f42b98da g.chr8:79646064C>G ENST00000263851.4 - 6 1018 c.418G>C c.(418-420)Gaa>Caa p.E140Q IL7_ENST00000519833.1_Intron|IL7_ENST00000541183.1_Missense_Mutation_p.E27Q|IL7_ENST00000520269.1_Missense_Mutation_p.E96Q NM_000880.3|NM_001199886.1|NM_001199887.1 NP_000871.1|NP_001186815.1|NP_001186816.1 P13232 IL7_HUMAN interleukin 7 140 bone resorption|cell-cell signaling|humoral immune response|organ morphogenesis|positive regulation of B cell proliferation|positive regulation of T cell differentiation extracellular space cytokine activity|growth factor activity|interleukin-7 receptor binding endometrium(2)|large_intestine(2)|lung(1) 5 GATTTATTTTCTTCCTAGAGA 0.229000 12 73 0 0 1 0 0 PCDHA12 56137 broad.mit.edu 37 5 140255239 140255239 + Missense_Mutation SNP C C T TCGA-T3-A92N-01A-11D-A391-08 TCGA-T3-A92N-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40005278-5569-44a5-94a2-9311946aa7ca 8e5216b7-93fa-440f-bf1a-c304f42b98da g.chr5:140255239C>T ENST00000398631.2 + 1 182 c.182C>T c.(181-183)cCg>cTg p.P61L PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA9_ENST00000532602.1_Intron NM_018903.2|NM_031864.1 NP_061726.1|NP_114070.1 NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1) 78 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GAGCTGGTGCCGCGCCTGTTC 0.612000 62 70 0 0 1 0 0 PML 5371 broad.mit.edu 37 15 74328064 74328064 + Silent SNP C C T TCGA-T3-A92N-01A-11D-A391-08 TCGA-T3-A92N-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40005278-5569-44a5-94a2-9311946aa7ca 8e5216b7-93fa-440f-bf1a-c304f42b98da g.chr15:74328064C>T ENST00000268059.6 + 8 2358 c.2262C>T c.(2260-2262)ttC>ttT p.F754F PML_ENST00000569965.1_Intron|PML_ENST00000564428.1_Intron|PML_ENST00000436891.3_3'UTR|PML_ENST00000354026.6_Silent_p.F706F|PML_ENST00000395132.2_Intron|PML_ENST00000395135.3_Intron|PML_ENST00000435786.2_3'UTR|PML_ENST00000359928.4_Intron|PML_ENST00000565898.1_Intron|PML_ENST00000268058.3_Intron|PML_ENST00000563500.1_3'UTR NM_033239.2|NM_033244.3 NP_150242.1|NP_150247.2 P29590 PML_HUMAN promyelocytic leukemia 0 cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction resulting in induction of apoptosis|endoplasmic reticulum calcium ion homeostasis|induction of apoptosis|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|maintenance of protein location in nucleus|negative regulation of angiogenesis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of mitotic cell cycle|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|negative regulation of telomerase activity|negative regulation of telomere maintenance via telomerase|negative regulation of transcription, DNA-dependent|negative regulation of translation in response to oxidative stress|PML body organization|positive regulation of defense response to virus by host|positive regulation of histone deacetylation|protein complex assembly|protein stabilization|protein targeting|regulation of calcium ion transport into cytosol|regulation of protein phosphorylation|response to hypoxia|response to virus|transcription, DNA-dependent cytoplasm|cytosol|early endosome membrane|extrinsic to endoplasmic reticulum membrane|insoluble fraction|nuclear matrix|nuclear membrane|nucleolus|nucleus|PML body cobalt ion binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|SUMO binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 31 CCCTCCCCTTCTCCTCCATGG 0.622000 T """RARA, PAX5""" """APL, ALL""" 45 70 0 0 1 0 0 SPHKAP 80309 broad.mit.edu 37 2 228881810 228881810 + Missense_Mutation SNP G G T TCGA-T3-A92N-01A-11D-A391-08 TCGA-T3-A92N-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40005278-5569-44a5-94a2-9311946aa7ca 8e5216b7-93fa-440f-bf1a-c304f42b98da g.chr2:228881810G>T ENST00000392056.3 - 7 3806 c.3760C>A c.(3760-3762)Ccc>Acc p.P1254T SPHKAP_ENST00000344657.5_Missense_Mutation_p.P1254T NM_001142644.1 NP_001136116.1 Q2M3C7 SPKAP_HUMAN SPHK1 interactor, AKAP domain containing 1254 cytoplasm protein binding NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 185 Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23) Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232) GCTTTGATGGGCACATTCACT 0.567000 40 23 7.04047e-22 7.7609e-22 1 1 0 PEG3 5178 broad.mit.edu 37 19 57325583 57325583 + Silent SNP A A G TCGA-T3-A92N-01A-11D-A391-08 TCGA-T3-A92N-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40005278-5569-44a5-94a2-9311946aa7ca 8e5216b7-93fa-440f-bf1a-c304f42b98da g.chr19:57325583A>G ENST00000326441.9 - 10 4590 c.4227T>C c.(4225-4227)gcT>gcC p.A1409A ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000423103.2_Silent_p.A1409A|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000599935.1_Intron|PEG3_ENST00000593695.1_Silent_p.A1283A|PEG3_ENST00000598410.1_Silent_p.A1285A NM_006210.2 NP_006201.1 Q9GZU2 PEG3_HUMAN paternally expressed 3 1409 3 X 7 AA repeat of P-E-V-E-A-A-E.|Glu-rich. apoptosis|viral reproduction cytoplasm|nucleus nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6) 170 Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0269) CTTCTGGCTCAGCAGCCTCCA 0.577000 5 82 0 0 1 0 0 OR1J4 26219 broad.mit.edu 37 9 125281665 125281665 + Silent SNP A A G TCGA-T3-A92N-01A-11D-A391-08 TCGA-T3-A92N-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40005278-5569-44a5-94a2-9311946aa7ca 8e5216b7-93fa-440f-bf1a-c304f42b98da g.chr9:125281665A>G ENST00000340750.1 + 1 246 c.246A>G c.(244-246)ttA>ttG p.L82L NM_001004452.1 NP_001004452.1 Q8NGS1 OR1J4_HUMAN olfactory receptor, family 1, subfamily J, member 4 82 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(1) 20 CAAAGATGTTATTAAGCATGC 0.428000 75 161 0 0 1 0 0 LPHN1 22859 broad.mit.edu 37 19 14270318 14270318 + Missense_Mutation SNP C C G TCGA-T3-A92N-01A-11D-A391-08 TCGA-T3-A92N-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40005278-5569-44a5-94a2-9311946aa7ca 8e5216b7-93fa-440f-bf1a-c304f42b98da g.chr19:14270318C>G ENST00000340736.6 - 11 2230 c.1933G>C c.(1933-1935)Gtg>Ctg p.V645L CTB-55O6.12_ENST00000592086.1_RNA|CTB-55O6.12_ENST00000588387.1_RNA|LPHN1_ENST00000361434.3_Missense_Mutation_p.V640L NM_001008701.2 NP_001008701.1 O94910 LPHN1_HUMAN latrophilin 1 645 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|sugar binding central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 GCCGTGTGCACCTGCTCCGTG 0.637000 8 26 0 0 1 0 0 HERPUD2 64224 broad.mit.edu 37 7 35707179 35707179 + Nonsense_Mutation SNP G G C TCGA-T3-A92N-01A-11D-A391-08 TCGA-T3-A92N-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40005278-5569-44a5-94a2-9311946aa7ca 8e5216b7-93fa-440f-bf1a-c304f42b98da g.chr7:35707179G>C ENST00000396081.1 - 4 1163 c.359C>G c.(358-360)tCa>tGa p.S120* HERPUD2_ENST00000311350.3_Nonsense_Mutation_p.S120*|HERPUD2_ENST00000426180.1_5'UTR NM_022373.4 NP_071768.3 Q9BSE4 HERP2_HUMAN HERPUD family member 2 120 Ser-rich. response to unfolded protein integral to membrane kidney(3)|large_intestine(5)|lung(6)|ovary(3)|prostate(1) 18 TGGAGTTGTTGATCCTGAATG 0.363000 5 94 0 0 1 0 0 ANKRD28 23243 broad.mit.edu 37 3 15720996 15720996 + Missense_Mutation SNP A A C rs116976698 by1000genomes TCGA-T3-A92N-01A-11D-A391-08 TCGA-T3-A92N-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40005278-5569-44a5-94a2-9311946aa7ca 8e5216b7-93fa-440f-bf1a-c304f42b98da g.chr3:15720996A>C ENST00000399451.2 - 22 2741 c.2374T>G c.(2374-2376)Ttg>Gtg p.L792V ANKRD28_ENST00000497037.1_5'UTR|ANKRD28_ENST00000383777.1_Missense_Mutation_p.L825V NM_001195098.1|NM_001195099.1|NM_015199.3 NP_001182027.1|NP_001182028.1|NP_056014.2 O15084 ANR28_HUMAN ankyrin repeat domain 28 792 nucleoplasm protein binding breast(2)|endometrium(1)|large_intestine(2)|prostate(1) 6 GCACAATGCAATGGACTAAAA 0.383000 20 15 0 0 1 0 0 ITPR2 3709 broad.mit.edu 37 12 26568407 26568407 + Nonsense_Mutation SNP C C A TCGA-T3-A92N-01A-11D-A391-08 TCGA-T3-A92N-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40005278-5569-44a5-94a2-9311946aa7ca 8e5216b7-93fa-440f-bf1a-c304f42b98da g.chr12:26568407C>A ENST00000381340.3 - 51 7551 c.7135G>T c.(7135-7137)Gag>Tag p.E2379* RP11-513G19.1_ENST00000535324.1_RNA NM_002223.2 NP_002214.2 Q14571 ITPR2_HUMAN inositol 1,4,5-trisphosphate receptor, type 2 2379 activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity ETV6/ITPR2(2) biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 125 Colorectal(261;0.0847) AGCAAAGTCTCTTCCCTGTAC 0.363000 4 79 0.150653 0.150653 1 1 0 IMPDH1 3614 broad.mit.edu 37 7 128041099 128041099 + Silent SNP C C G TCGA-T3-A92N-01A-11D-A391-08 TCGA-T3-A92N-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40005278-5569-44a5-94a2-9311946aa7ca 8e5216b7-93fa-440f-bf1a-c304f42b98da g.chr7:128041099C>G ENST00000338791.6 - 6 824 c.474G>C c.(472-474)gtG>gtC p.V158V IMPDH1_ENST00000470772.1_Silent_p.V73V|IMPDH1_ENST00000480861.1_Silent_p.V73V|IMPDH1_ENST00000378717.4_Silent_p.V89V|IMPDH1_ENST00000419067.2_Silent_p.V125V|IMPDH1_ENST00000496200.1_Silent_p.V73V|IMPDH1_ENST00000354269.5_Silent_p.V148V|IMPDH1_ENST00000348127.6_Silent_p.V122V|IMPDH1_ENST00000343214.4_Silent_p.V73V NM_000883.3 NP_000874.2 P20839 IMDH1_HUMAN IMP (inosine 5'-monophosphate) dehydrogenase 1 73 CBS 1. GMP biosynthetic process|purine base metabolic process cytosol|nucleus DNA binding|IMP dehydrogenase activity|metal ion binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3) 22 Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|NADH(DB00157)|Ribavirin(DB00811)|Thioguanine(DB00352) CAGCCTCTGTCACAGTGTCCA 0.602000 20 38 0 0 1 0 0 ZBED6CL 113763 broad.mit.edu 37 7 150027948 150027948 + Missense_Mutation SNP A A G TCGA-T3-A92N-01A-11D-A391-08 TCGA-T3-A92N-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40005278-5569-44a5-94a2-9311946aa7ca 8e5216b7-93fa-440f-bf1a-c304f42b98da g.chr7:150027948A>G ENST00000343855.4 + 1 1011 c.455A>G c.(454-456)cAg>cGg p.Q152R LRRC61_ENST00000323078.7_Intron|LRRC61_ENST00000359623.4_Intron|LRRC61_ENST00000493307.1_Intron NM_138434.2 NP_612443.1 ZBED6 C-terminal like GAGCCTCTGCAGAGCAGCAGC 0.682000 24 24 0 0 1 0 0 OAS3 4940 broad.mit.edu 37 12 113384607 113384607 + Silent SNP G G A TCGA-T3-A92N-01A-11D-A391-08 TCGA-T3-A92N-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40005278-5569-44a5-94a2-9311946aa7ca 8e5216b7-93fa-440f-bf1a-c304f42b98da g.chr12:113384607G>A ENST00000228928.7 + 4 875 c.696G>A c.(694-696)ctG>ctA p.L232L RP1-71H24.1_ENST00000552784.1_RNA|OAS3_ENST00000546638.1_3'UTR NM_006187.2 NP_006178.2 Q9Y6K5 OAS3_HUMAN 2'-5'-oligoadenylate synthetase 3, 100kDa 232 OAS domain 1. interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway microsome ATP binding|nucleotidyltransferase activity|RNA binding breast(3)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|skin(2) 27 TGGAATTGCTGACCATCTTCG 0.597000 12 27 0 0 1 0 0 OR8B4 283162 broad.mit.edu 37 11 124294592 124294592 + Missense_Mutation SNP A A T TCGA-T3-A92N-01A-11D-A391-08 TCGA-T3-A92N-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40005278-5569-44a5-94a2-9311946aa7ca 8e5216b7-93fa-440f-bf1a-c304f42b98da g.chr11:124294592A>T ENST00000356130.3 - 1 197 c.176T>A c.(175-177)aTg>aAg p.M59K NM_001005196.1 NP_001005196.1 Q96RC9 OR8B4_HUMAN olfactory receptor, family 8, subfamily B, member 4 59 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(1)|urinary_tract(1) 32 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279) GAAAAAGTACATGGGGGTGTG 0.408000 39 12 0 0 1 0 0 PPARGC1B 133522 broad.mit.edu 37 5 149200006 149200006 + Missense_Mutation SNP C C A TCGA-T3-A92N-01A-11D-A391-08 TCGA-T3-A92N-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40005278-5569-44a5-94a2-9311946aa7ca 8e5216b7-93fa-440f-bf1a-c304f42b98da g.chr5:149200006C>A ENST00000309241.5 + 2 121 c.89C>A c.(88-90)tCc>tAc p.S30Y PPARGC1B_ENST00000360453.4_Missense_Mutation_p.S30Y|PPARGC1B_ENST00000403750.1_Missense_Mutation_p.S5Y|PPARGC1B_ENST00000394320.3_Missense_Mutation_p.S30Y NM_133263.3 NP_573570.3 Q86YN6 PRGC2_HUMAN peroxisome proliferator-activated receptor gamma, coactivator 1 beta 30 Abolishes DNA transcriptional activity when missing. estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter mediator complex AF-2 domain binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity|RNA binding|RNA polymerase II transcription cofactor activity NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1) 30 KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147) GGTGGAGGGTCCGGGGAGGAG 0.577000 19 57 2.39187e-15 2.60034e-15 1 1 0 LYL1 4066 broad.mit.edu 37 19 13210418 13210418 + Silent SNP C C G TCGA-T3-A92N-01A-11D-A391-08 TCGA-T3-A92N-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40005278-5569-44a5-94a2-9311946aa7ca 8e5216b7-93fa-440f-bf1a-c304f42b98da g.chr19:13210418C>G ENST00000264824.4 - 4 918 c.558G>C c.(556-558)ctG>ctC p.L186L NM_005583.4 NP_005574.2 P12980 LYL1_HUMAN lymphoblastic leukemia derived sequence 1 186 Helix-loop-helix motif. B cell differentiation|blood vessel maturation|definitive hemopoiesis|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding cervix(1)|endometrium(2)|kidney(1)|lung(2)|prostate(1) 7 OV - Ovarian serous cystadenocarcinoma(19;6.08e-22) CGTTCTTGCTCAGCTTCCGGT 0.677000 T TRB@ T-ALL 3 8 0 0 1 0 0 SIPA1L1 26037 broad.mit.edu 37 14 72190550 72190550 + Silent SNP A A G TCGA-T3-A92N-01A-11D-A391-08 TCGA-T3-A92N-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40005278-5569-44a5-94a2-9311946aa7ca 8e5216b7-93fa-440f-bf1a-c304f42b98da g.chr14:72190550A>G ENST00000555818.1 + 16 4806 c.4458A>G c.(4456-4458)ggA>ggG p.G1486G SIPA1L1_ENST00000358550.2_Silent_p.G1465G|SIPA1L1_ENST00000381232.3_Silent_p.G1465G|SIPA1L1_ENST00000554874.1_3'UTR|SIPA1L1_ENST00000537413.1_Silent_p.G940G NM_015556.1 NP_056371.1 O43166 SI1L1_HUMAN signal-induced proliferation-associated 1 like 1 1486 Ser-rich. actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome GTPase activator activity NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1) 78 all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109) ACCTGATTGGATGGAAAAAAC 0.502000 65 65 0 0 1 0 0 FAM47A 158724 broad.mit.edu 37 X 34148560 34148560 + Silent SNP G G A TCGA-T3-A92N-01A-11D-A391-08 TCGA-T3-A92N-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40005278-5569-44a5-94a2-9311946aa7ca 8e5216b7-93fa-440f-bf1a-c304f42b98da g.chrX:34148560G>A ENST00000346193.3 - 1 1887 c.1836C>T c.(1834-1836)ttC>ttT p.F612F NM_203408.3 NP_981953.2 Q5JRC9 FA47A_HUMAN family with sequence similarity 47, member A 612 NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2) 97 CAGCCCACTTGAAGAATTCAC 0.428000 36 16 0 0 1 0 0 IPO7 10527 broad.mit.edu 37 11 9452476 9452476 + Missense_Mutation SNP G G C TCGA-T3-A92N-01A-11D-A391-08 TCGA-T3-A92N-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40005278-5569-44a5-94a2-9311946aa7ca 8e5216b7-93fa-440f-bf1a-c304f42b98da g.chr11:9452476G>C ENST00000379719.3 + 16 1949 c.1807G>C c.(1807-1809)Gac>Cac p.D603H CTD-2371O3.2_ENST00000531111.1_RNA NM_006391.2 NP_006382.1 O95373 IPO7_HUMAN importin 7 603 interspecies interaction between organisms|signal transduction Golgi apparatus|nuclear pore|soluble fraction protein transporter activity|Ran GTPase binding|small GTPase regulator activity NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217) AGGTAGTGATGACAAAGCAGT 0.368000 25 11 0 0 1 0 0 BAZ1B 9031 broad.mit.edu 37 7 72858434 72858434 + Silent SNP G G T TCGA-T3-A92N-01A-11D-A391-08 TCGA-T3-A92N-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40005278-5569-44a5-94a2-9311946aa7ca 8e5216b7-93fa-440f-bf1a-c304f42b98da g.chr7:72858434G>T ENST00000339594.4 - 17 4208 c.3870C>A c.(3868-3870)ggC>ggA p.G1290G BAZ1B_ENST00000404251.1_Silent_p.G1290G NM_032408.3 NP_115784.1 Q9UIG0 BAZ1B_HUMAN bromodomain adjacent to zinc finger domain, 1B 1290 ATP-dependent chromatin remodeling|chromatin-mediated maintenance of transcription|DNA replication-dependent nucleosome disassembly|double-strand break repair|heart morphogenesis|transcription, DNA-dependent WINAC complex ATP binding|chromatin binding|histone acetyl-lysine binding|histone kinase activity|non-membrane spanning protein tyrosine kinase activity|protein complex scaffold|vitamin D receptor activator activity|vitamin D receptor binding|zinc ion binding NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 61 Lung NSC(55;0.0659)|all_lung(88;0.152) CGCTGTGCTTGCCCCGGATGG 0.572000 73 71 6.20995e-33 6.94226e-33 1 1 0 FRA10AC1 118924 broad.mit.edu 37 10 95459821 95459821 + Missense_Mutation SNP C C T TCGA-T3-A92N-01A-11D-A391-08 TCGA-T3-A92N-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40005278-5569-44a5-94a2-9311946aa7ca 8e5216b7-93fa-440f-bf1a-c304f42b98da g.chr10:95459821C>T ENST00000359204.4 - 2 240 c.43G>A c.(43-45)Gaa>Aaa p.E15K FRA10AC1_ENST00000371430.2_Missense_Mutation_p.E15K|FRA10AC1_ENST00000394100.2_Missense_Mutation_p.E15K|FRA10AC1_ENST00000536233.1_Missense_Mutation_p.E15K NM_145246.4 NP_660289.2 Q70Z53 F10C1_HUMAN fragile site, folic acid type, rare, fra(10)(q23.3) or fra(10)(q24.2) candidate 1 15 nucleus protein binding NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|urinary_tract(1) 14 CCACAGCGTTCATCATCACTA 0.323000 25 40 0 0 1 0 0 EIF4G1 1981 broad.mit.edu 37 3 184043061 184043061 + Missense_Mutation SNP G G A TCGA-T3-A92N-01A-11D-A391-08 TCGA-T3-A92N-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40005278-5569-44a5-94a2-9311946aa7ca 8e5216b7-93fa-440f-bf1a-c304f42b98da g.chr3:184043061G>A ENST00000342981.4 + 18 3278 c.2864G>A c.(2863-2865)cGa>cAa p.R955Q EIF4G1_ENST00000427845.1_Missense_Mutation_p.R868Q|EIF4G1_ENST00000352767.3_Missense_Mutation_p.R961Q|EIF4G1_ENST00000392537.2_Missense_Mutation_p.R867Q|EIF4G1_ENST00000411531.1_Missense_Mutation_p.R915Q|EIF4G1_ENST00000382330.3_Missense_Mutation_p.R961Q|EIF4G1_ENST00000435046.2_Missense_Mutation_p.R758Q|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000350481.5_Missense_Mutation_p.R790Q|EIF4G1_ENST00000424196.1_Missense_Mutation_p.R961Q|EIF4G1_ENST00000319274.6_Missense_Mutation_p.R954Q|EIF4G1_ENST00000346169.2_Missense_Mutation_p.R954Q|EIF4G1_ENST00000434061.2_Missense_Mutation_p.R759Q|EIF4G1_ENST00000441154.1_Missense_Mutation_p.R791Q|EIF4G1_ENST00000414031.1_Missense_Mutation_p.R914Q NM_182917.4 NP_886553.3 Q04637 IF4G1_HUMAN eukaryotic translation initiation factor 4 gamma, 1 954 eIF3/EIF4A-binding. insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation cytosol|eukaryotic translation initiation factor 4F complex protein binding|translation initiation factor activity central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 75 all_cancers(143;1.06e-10)|Ovarian(172;0.0339) Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) TCCTAGCCCCGAATGGATCAG 0.522000 25 121 0 0 1 0 0 GOLGA5 9950 broad.mit.edu 37 14 93263973 93263973 + Missense_Mutation SNP C C T TCGA-T3-A92N-01A-11D-A391-08 TCGA-T3-A92N-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40005278-5569-44a5-94a2-9311946aa7ca 8e5216b7-93fa-440f-bf1a-c304f42b98da g.chr14:93263973C>T ENST00000163416.2 + 2 447 c.191C>T c.(190-192)tCa>tTa p.S64L GOLGA5_ENST00000355976.2_Missense_Mutation_p.S64L NM_005113.2 NP_005104.2 Q8TBA6 GOGA5_HUMAN golgin A5 64 Golgi organization cis-Golgi network|integral to membrane ATP binding|protein homodimerization activity|protein tyrosine kinase activity|Rab GTPase binding large_intestine(6)|lung(1)|ovary(2) 9 all_cancers(154;0.0934) COAD - Colon adenocarcinoma(157;0.222) ACGTATATTTCATCAGCAGCT 0.393000 T RET papillary thyroid 42 34 0 0 1 0 0 RTP4 64108 broad.mit.edu 37 3 187089114 187089114 + Missense_Mutation SNP A A G TCGA-T3-A92N-01A-11D-A391-08 TCGA-T3-A92N-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40005278-5569-44a5-94a2-9311946aa7ca 8e5216b7-93fa-440f-bf1a-c304f42b98da g.chr3:187089114A>G ENST00000259030.2 + 2 804 c.694A>G c.(694-696)Att>Gtt p.I232V NM_022147.2 NP_071430.2 Q96DX8 RTP4_HUMAN receptor (chemosensory) transporter protein 4 232 detection of chemical stimulus involved in sensory perception of bitter taste|protein targeting to membrane cytoplasm|integral to membrane protein binding breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1) 11 all_cancers(143;4.66e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;5.56e-18) GBM - Glioblastoma multiforme(93;0.0269) CTGTGTCTTTATTTTGCTGCT 0.413000 27 42 0 0 1 0 0 COL11A1 1301 broad.mit.edu 37 1 103405944 103405944 + Missense_Mutation SNP C C A TCGA-T3-A92N-01A-11D-A391-08 TCGA-T3-A92N-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40005278-5569-44a5-94a2-9311946aa7ca 8e5216b7-93fa-440f-bf1a-c304f42b98da g.chr1:103405944C>A ENST00000358392.2 - 43 3676 c.3359G>T c.(3358-3360)gGt>gTt p.G1120V COL11A1_ENST00000512756.1_Missense_Mutation_p.G992V|COL11A1_ENST00000353414.4_Missense_Mutation_p.G1069V|COL11A1_ENST00000370096.3_Missense_Mutation_p.G1108V NM_080629.2 NP_542196.2 P12107 COBA1_HUMAN collagen, type XI, alpha 1 1108 Triple-helical region. collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1) 258 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) ACCAACAGGACCTTGAACTCC 0.483000 16 19 3.41278e-10 3.64338e-10 1 1 0 RALGAPA1 253959 broad.mit.edu 37 14 36192260 36192260 + Nonsense_Mutation SNP G G A TCGA-T3-A92N-01A-11D-A391-08 TCGA-T3-A92N-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40005278-5569-44a5-94a2-9311946aa7ca 8e5216b7-93fa-440f-bf1a-c304f42b98da g.chr14:36192260G>A ENST00000258840.6 - 15 2467 c.2077C>T c.(2077-2079)Cag>Tag p.Q693* RALGAPA1_ENST00000554704.1_5'UTR|RALGAPA1_ENST00000389698.3_Nonsense_Mutation_p.Q693*|RALGAPA1_ENST00000382366.3_Nonsense_Mutation_p.Q693*|RALGAPA1_ENST00000307138.6_Nonsense_Mutation_p.Q693* Q6GYQ0 RGPA1_HUMAN Ral GTPase activating protein, alpha subunit 1 (catalytic) 693 activation of Ral GTPase activity cytosol|mitochondrion|nucleus protein heterodimerization activity|Ral GTPase activator activity breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 TTTTGTTTCTGTTCACTCAGC 0.343000 157 37 0 0 1 0 0 SSPO 23145 broad.mit.edu 37 7 149514780 149514780 + RNA SNP C C T TCGA-T3-A92N-01A-11D-A391-08 TCGA-T3-A92N-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40005278-5569-44a5-94a2-9311946aa7ca 8e5216b7-93fa-440f-bf1a-c304f42b98da g.chr7:149514780C>T ENST00000378016.2 + 0 11322 A2VEC9 SSPO_HUMAN SCO-spondin cell adhesion extracellular space peptidase inhibitor activity Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) GTCAGCCCCTCGGGCCTGGAG 0.652000 26 18 0 0 1 0 0 ARAP1 116985 broad.mit.edu 37 11 72421485 72421485 + Missense_Mutation SNP T T C TCGA-T3-A92N-01A-11D-A391-08 TCGA-T3-A92N-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40005278-5569-44a5-94a2-9311946aa7ca 8e5216b7-93fa-440f-bf1a-c304f42b98da g.chr11:72421485T>C ENST00000359373.5 - 10 2212 c.1361A>G c.(1360-1362)aAt>aGt p.N454S ARAP1_ENST00000429686.1_Missense_Mutation_p.N209S|ARAP1_ENST00000334211.8_Missense_Mutation_p.N209S|ARAP1_ENST00000455638.2_Missense_Mutation_p.N454S|ARAP1_ENST00000426523.1_Missense_Mutation_p.N209S|ARAP1_ENST00000393605.3_Missense_Mutation_p.N214S|ARAP1_ENST00000393609.3_Missense_Mutation_p.N454S Q96P48 ARAP1_HUMAN ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1 454 PH 2. actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction cytosol|Golgi cisterna membrane|plasma membrane ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|Rho GTPase activator activity|zinc ion binding cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1) 27 GTACAGCTTATTCTTGAAGCC 0.607000 106 40 0 0 1 0 0 GNPAT 8443 broad.mit.edu 37 1 231377141 231377141 + Missense_Mutation SNP C C T TCGA-T3-A92N-01A-11D-A391-08 TCGA-T3-A92N-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40005278-5569-44a5-94a2-9311946aa7ca 8e5216b7-93fa-440f-bf1a-c304f42b98da g.chr1:231377141C>T ENST00000366647.4 + 1 186 c.17C>T c.(16-18)tCa>tTa p.S6L GNPAT_ENST00000366646.3_Missense_Mutation_p.S6L NM_014236.3 NP_055051.1 O15228 GNPAT_HUMAN glyceronephosphate O-acyltransferase 6 Poly-Ser. ether lipid biosynthetic process|fatty acid metabolic process|organ morphogenesis peroxisomal matrix|peroxisomal membrane glycerone-phosphate O-acyltransferase activity breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1) 23 Breast(184;0.0871) all_cancers(173;0.2)|Prostate(94;0.183) TCTTCCAGTTCATCTAACTCT 0.622000 66 51 0 0 1 0 0 CLTC 1213 broad.mit.edu 37 17 57761261 57761261 + Missense_Mutation SNP C C T TCGA-T3-A92N-01A-11D-A391-08 TCGA-T3-A92N-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40005278-5569-44a5-94a2-9311946aa7ca 8e5216b7-93fa-440f-bf1a-c304f42b98da g.chr17:57761261C>T ENST00000269122.3 + 28 4623 c.4349C>T c.(4348-4350)cCg>cTg p.P1450L CLTC_ENST00000393043.1_Missense_Mutation_p.P1450L|CLTC_ENST00000579456.1_Missense_Mutation_p.P387L NM_004859.3 NP_004850.1 Q00610 CLH1_HUMAN clathrin, heavy chain (Hc) 1450 Heavy chain arm.|Involved in binding clathrin light chain (By similarity).|Proximal segment. axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|mitosis|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport|receptor internalization|transferrin transport clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol|melanosome|spindle protein binding|structural molecule activity CLTC/ALK(44)|CLTC/TFE3(2) breast(2)|large_intestine(6)|ovary(1) 9 all_neural(34;0.0878)|Medulloblastoma(34;0.0922) CTGGTGAAACCGTATTTGCGT 0.328000 T """ALK, TFE3""" """ALCL, renal """ 25 36 0 0 1 0 0 LINGO4 339398 broad.mit.edu 37 1 151773897 151773897 + Silent SNP G G A TCGA-T3-A92N-01A-11D-A391-08 TCGA-T3-A92N-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40005278-5569-44a5-94a2-9311946aa7ca 8e5216b7-93fa-440f-bf1a-c304f42b98da g.chr1:151773897G>A ENST00000368820.3 - 2 2221 c.1284C>T c.(1282-1284)ggC>ggT p.G428G NM_001004432.2 NP_001004432.1 Q6UY18 LIGO4_HUMAN leucine rich repeat and Ig domain containing 4 428 Ig-like C2-type. integral to membrane breast(2)|cervix(1)|endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 21 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14) LUSC - Lung squamous cell carcinoma(543;0.181) CCGCATGCCCGCCCTCCTCTG 0.612000 19 91 0 0 1 0 0 ARHGEF15 22899 broad.mit.edu 37 17 8216345 8216345 + Missense_Mutation SNP G G A TCGA-T3-A92N-01A-11D-A391-08 TCGA-T3-A92N-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40005278-5569-44a5-94a2-9311946aa7ca 8e5216b7-93fa-440f-bf1a-c304f42b98da g.chr17:8216345G>A ENST00000361926.3 + 3 817 c.707G>A c.(706-708)aGg>aAg p.R236K ARHGEF15_ENST00000421050.1_Missense_Mutation_p.R236K NM_173728.3 NP_776089.2 O94989 ARHGF_HUMAN Rho guanine nucleotide exchange factor (GEF) 15 236 negative regulation of synapse maturation|regulation of Rho protein signal transduction dendrite|intracellular GTPase activator activity|Rho guanyl-nucleotide exchange factor activity breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1) 37 GAGGTCCCCAGGGTCCCCCGT 0.711000 68 28 0 0 1 0 0 MAST2 23139 broad.mit.edu 37 1 46472023 46472023 + Missense_Mutation SNP A A T TCGA-T3-A92N-01A-11D-A391-08 TCGA-T3-A92N-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40005278-5569-44a5-94a2-9311946aa7ca 8e5216b7-93fa-440f-bf1a-c304f42b98da g.chr1:46472023A>T ENST00000361297.2 + 8 1141 c.858A>T c.(856-858)gaA>gaT p.E286D MAST2_ENST00000372008.1_Missense_Mutation_p.E171D|MAST2_ENST00000372009.2_Missense_Mutation_p.E286D NM_015112.2 NP_055927.2 Q6P0Q8 MAST2_HUMAN microtubule associated serine/threonine kinase 2 286 regulation of interleukin-12 biosynthetic process|spermatid differentiation cytoplasm|cytoskeleton|plasma membrane ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity breast(1)|lung(3)|ovary(5)|stomach(2) 11 Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184) CAGATGAGGAAGGACGGCAGT 0.557000 35 89 0 0 1 0 0 PLK4 10733 broad.mit.edu 37 4 128814571 128814571 + Missense_Mutation SNP G G A TCGA-T3-A92N-01A-11D-A391-08 TCGA-T3-A92N-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40005278-5569-44a5-94a2-9311946aa7ca 8e5216b7-93fa-440f-bf1a-c304f42b98da g.chr4:128814571G>A ENST00000270861.5 + 11 2594 c.2320G>A c.(2320-2322)Gag>Aag p.E774K PLK4_ENST00000507249.1_Missense_Mutation_p.E713K|PLK4_ENST00000513090.1_Missense_Mutation_p.E742K|PLK4_ENST00000514379.1_Missense_Mutation_p.E733K|PLK4_ENST00000515069.1_Missense_Mutation_p.E696K NM_014264.4 NP_055079.3 O00444 PLK4_HUMAN polo-like kinase 4 774 G2/M transition of mitotic cell cycle|positive regulation of centriole replication|trophoblast giant cell differentiation centriole|cleavage furrow|cytosol|nucleolus ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.E774*(1) central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|upper_aerodigestive_tract(1) 31 CCATGCTAATGAGGTACATAC 0.333000 32 14 0 0 1 0 0 ZSWIM4 65249 broad.mit.edu 37 19 13941053 13941053 + Missense_Mutation SNP C C T TCGA-T3-A92N-01A-11D-A391-08 TCGA-T3-A92N-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40005278-5569-44a5-94a2-9311946aa7ca 8e5216b7-93fa-440f-bf1a-c304f42b98da g.chr19:13941053C>T ENST00000254323.2 + 13 2348 c.2159C>T c.(2158-2160)aCa>aTa p.T720I ZSWIM4_ENST00000440752.2_Missense_Mutation_p.T554I NM_023072.2 NP_075560.2 Q9H7M6 ZSWM4_HUMAN zinc finger, SWIM-type containing 4 720 zinc ion binding central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 27 OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19) TCCTTATTCACACCAGTGGAG 0.617000 15 38 0 0 1 0 0 SELP 6403 broad.mit.edu 37 1 169581536 169581536 + Missense_Mutation SNP C C T TCGA-T3-A92N-01A-11D-A391-08 TCGA-T3-A92N-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40005278-5569-44a5-94a2-9311946aa7ca 8e5216b7-93fa-440f-bf1a-c304f42b98da g.chr1:169581536C>T ENST00000263686.6 - 6 917 c.880G>A c.(880-882)Gag>Aag p.E294K SELP_ENST00000367786.2_Missense_Mutation_p.E294K|SELP_ENST00000367794.2_Missense_Mutation_p.E294K|SELP_ENST00000458599.2_Missense_Mutation_p.E294K|SELP_ENST00000367792.2_Missense_Mutation_p.E294K|SELP_ENST00000367788.2_Intron|SELP_ENST00000367791.2_Missense_Mutation_p.E294K|SELP_ENST00000367793.2_Intron NM_003005.3 NP_002996.2 P16109 LYAM3_HUMAN selectin P (granule membrane protein 140kDa, antigen CD62) 294 Sushi 2. platelet activation|platelet degranulation|positive regulation of platelet activation external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 all_hematologic(923;0.208) Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775) GCAAATCCCTCTTCACAACTG 0.527000 40 32 0 0 1 0 0 EVI5L 115704 broad.mit.edu 37 19 7927297 7927297 + Silent SNP G G A TCGA-T3-A92N-01A-11D-A391-08 TCGA-T3-A92N-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40005278-5569-44a5-94a2-9311946aa7ca 8e5216b7-93fa-440f-bf1a-c304f42b98da g.chr19:7927297G>A ENST00000270530.4 + 16 1987 c.1791G>A c.(1789-1791)ctG>ctA p.L597L EVI5L_ENST00000538904.2_Silent_p.L608L NM_145245.3 NP_660288.1 Q96CN4 EVI5L_HUMAN ecotropic viral integration site 5-like 597 intracellular protein binding|Rab GTPase activator activity breast(1)|lung(9)|ovary(1)|upper_aerodigestive_tract(1) 12 GCAACCTTCTGAACCGCGTGG 0.677000 11 20 0 0 1 0 0 KMT2D 8085 broad.mit.edu 37 12 49442492 49442492 + Nonsense_Mutation SNP G G A TCGA-T3-A92N-01A-11D-A391-08 TCGA-T3-A92N-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40005278-5569-44a5-94a2-9311946aa7ca 8e5216b7-93fa-440f-bf1a-c304f42b98da g.chr12:49442492G>A ENST00000301067.7 - 13 4080 c.4081C>T c.(4081-4083)Cag>Tag p.Q1361* NM_003482.3 NP_003473.3 lysine (K)-specific methyltransferase 2D ACGGTATTCTGCATGGTGTCA 0.453000 118 168 0 0 1 0 0 DEFB128 245939 broad.mit.edu 37 20 168551 168551 + Silent SNP G G T TCGA-T3-A92N-01A-11D-A391-08 TCGA-T3-A92N-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40005278-5569-44a5-94a2-9311946aa7ca 8e5216b7-93fa-440f-bf1a-c304f42b98da g.chr20:168551G>T ENST00000334391.4 - 2 315 c.258C>A c.(256-258)ccC>ccA p.P86P NM_001037732.1 NP_001032821.1 Q7Z7B8 DB128_HUMAN defensin, beta 128 86 defense response to bacterium extracellular region breast(1)|endometrium(1)|large_intestine(1)|lung(2) 5 all_cancers(10;0.00499)|Lung NSC(37;0.227) OV - Ovarian serous cystadenocarcinoma(29;0.122) TGGTGATGGTGGGTAAGATGA 0.433000 45 137 4.25531e-23 4.71266e-23 1 1 0 ASAH2 56624 broad.mit.edu 37 10 51970603 51970603 + Missense_Mutation SNP C C G TCGA-T3-A92N-01A-11D-A391-08 TCGA-T3-A92N-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40005278-5569-44a5-94a2-9311946aa7ca 8e5216b7-93fa-440f-bf1a-c304f42b98da g.chr10:51970603C>G ENST00000395526.3 - 11 1393 c.1394G>C c.(1393-1395)gGa>gCa p.G465A ASAH2_ENST00000329428.6_Missense_Mutation_p.G411A|ASAH2_ENST00000447815.1_Missense_Mutation_p.G430A|ASAH2_ENST00000443575.1_Missense_Mutation_p.G307A NM_019893.2 NP_063946.2 Q9NR71 ASAH2_HUMAN N-acylsphingosine amidohydrolase (non-lysosomal ceramidase) 2 465 apoptosis|ceramide metabolic process|signal transduction integral to membrane|mitochondrion|plasma membrane ceramidase activity large_intestine(1)|lung(9)|urinary_tract(1) 11 ATTGAGGCCTCCAACTCCATC 0.378000 41 121 0 0 1 0 0 PLEC 5339 broad.mit.edu 37 8 144993486 144993486 + Silent SNP G G A TCGA-T3-A92N-01A-11D-A391-08 TCGA-T3-A92N-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40005278-5569-44a5-94a2-9311946aa7ca 8e5216b7-93fa-440f-bf1a-c304f42b98da g.chr8:144993486G>A ENST00000322810.4 - 32 11083 c.10914C>T c.(10912-10914)gtC>gtT p.V3638V PLEC_ENST00000436759.2_Silent_p.V3528V|PLEC_ENST00000357649.2_Silent_p.V3505V|PLEC_ENST00000398774.2_Silent_p.V3469V|PLEC_ENST00000354589.3_Silent_p.V3501V|PLEC_ENST00000345136.3_Silent_p.V3501V|PLEC_ENST00000354958.2_Silent_p.V3479V|PLEC_ENST00000527096.1_Silent_p.V3524V|PLEC_ENST00000356346.3_Silent_p.V3487V NM_201380.2 NP_958782.1 Q15149 PLEC_HUMAN plectin 3638 Globular 2. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10) 137 GGTCCGCCAGGACGCGGTTCA 0.657000 34 186 0 0 1 0 0 ABCC1 4363 broad.mit.edu 37 16 16208861 16208861 + Silent SNP C C T TCGA-T3-A92N-01A-11D-A391-08 TCGA-T3-A92N-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40005278-5569-44a5-94a2-9311946aa7ca 8e5216b7-93fa-440f-bf1a-c304f42b98da g.chr16:16208861C>T ENST00000399408.2 + 24 3523 c.3348C>T c.(3346-3348)atC>atT p.I1116I ABCC1_ENST00000399410.3_Silent_p.I1106I|ABCC1_ENST00000346370.5_Silent_p.I1050I|ABCC1_ENST00000345148.5_Silent_p.I1106I|ABCC1_ENST00000351154.5_Silent_p.I1047I|ABCC1_ENST00000349029.5_Silent_p.I991I P33527 MRP1_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 1 1106 ABC transmembrane type-1 2. hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3) 56 Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138) GTGCCTGCATCGTTATCCTGC 0.567000 11 35 0 0 1 0 0 SH3TC2 79628 broad.mit.edu 37 5 148406460 148406460 + Missense_Mutation SNP C C A TCGA-T3-A92N-01A-11D-A391-08 TCGA-T3-A92N-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40005278-5569-44a5-94a2-9311946aa7ca 8e5216b7-93fa-440f-bf1a-c304f42b98da g.chr5:148406460C>A ENST00000538184.1 - 7 2364 c.1476G>T c.(1474-1476)atG>atT p.M492I SH3TC2_ENST00000515425.1_Missense_Mutation_p.M945I|SH3TC2_ENST00000512049.1_Missense_Mutation_p.M938I|SH3TC2_ENST00000394358.2_Missense_Mutation_p.M830I Q8TF17 S3TC2_HUMAN SH3 domain and tetratricopeptide repeats 2 945 binding breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 39 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ACAGCAATGCCATTTCATAAC 0.443000 17 204 1.67942e-08 1.76116e-08 1 1 0 DNAH2 146754 broad.mit.edu 37 17 7701546 7701546 + Missense_Mutation SNP C C T TCGA-T3-A92N-01A-11D-A391-08 TCGA-T3-A92N-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40005278-5569-44a5-94a2-9311946aa7ca 8e5216b7-93fa-440f-bf1a-c304f42b98da g.chr17:7701546C>T ENST00000572933.1 + 54 9762 c.8302C>T c.(8302-8304)Cgc>Tgc p.R2768C DNAH2_ENST00000389173.2_Missense_Mutation_p.R2768C Q9P225 DYH2_HUMAN dynein, axonemal, heavy chain 2 2768 AAA 4 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1) 189 all_cancers(10;4.66e-07)|Prostate(122;0.081) GGGCAGCGGACGCCAGAGTCT 0.607000 48 33 0 0 1 0 0 MUC4 4585 broad.mit.edu 37 3 195515500 195515500 + Missense_Mutation SNP G G A TCGA-T3-A92N-01A-11D-A391-08 TCGA-T3-A92N-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40005278-5569-44a5-94a2-9311946aa7ca 8e5216b7-93fa-440f-bf1a-c304f42b98da g.chr3:195515500G>A ENST00000463781.3 - 2 3410 c.2951C>T c.(2950-2952)tCg>tTg p.S984L MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.S984L NM_018406.6 NP_060876.5 Q99102 MUC4_HUMAN mucin 4, cell surface associated 989 Ser-rich. cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) TGTGGATGCCGAGGAAGCGTA 0.577000 4 43 0 0 1 0 0 NIN 51199 broad.mit.edu 37 14 51238126 51238126 + Missense_Mutation SNP T T A TCGA-T3-A92N-01A-11D-A391-08 TCGA-T3-A92N-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40005278-5569-44a5-94a2-9311946aa7ca 8e5216b7-93fa-440f-bf1a-c304f42b98da g.chr14:51238126T>A ENST00000245441.5 - 10 1232 c.1042A>T c.(1042-1044)Aat>Tat p.N348Y NIN_ENST00000530997.2_Missense_Mutation_p.N348Y|NIN_ENST00000389868.3_Missense_Mutation_p.N348Y|NIN_ENST00000382041.3_Missense_Mutation_p.N348Y|NIN_ENST00000382043.4_Missense_Mutation_p.N348Y|NIN_ENST00000453196.1_Missense_Mutation_p.N348Y|NIN_ENST00000324330.9_Missense_Mutation_p.N348Y NM_020921.3 NP_065972.3 Q8N4C6 NIN_HUMAN ninein (GSK3B interacting protein) 348 EF-hand 5. centrosome localization centrosome|microtubule calcium ion binding|GTP binding|protein binding breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5) 71 all_epithelial(31;0.00244)|Breast(41;0.127) AAAAGTTCATTTTCAAGGGCC 0.443000 T PDGFRB MPD 27 48 0 0 1 0 0 WWC2 80014 broad.mit.edu 37 4 184202007 184202007 + Missense_Mutation SNP G G C TCGA-T3-A92N-01A-11D-A391-08 TCGA-T3-A92N-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40005278-5569-44a5-94a2-9311946aa7ca 8e5216b7-93fa-440f-bf1a-c304f42b98da g.chr4:184202007G>C ENST00000403733.3 + 17 2840 c.2641G>C c.(2641-2643)Gaa>Caa p.E881Q WWC2_ENST00000504005.1_Missense_Mutation_p.E563Q|WWC2_ENST00000513834.1_Missense_Mutation_p.E832Q|WWC2_ENST00000448232.2_Missense_Mutation_p.E881Q NM_024949.5 NP_079225.5 Q6AWC2 WWC2_HUMAN WW and C2 domain containing 2 881 NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3) 32 all_lung(41;5.28e-14)|Lung NSC(41;1.35e-13)|Colorectal(36;0.00681)|Hepatocellular(41;0.00886)|Renal(120;0.00992)|Prostate(90;0.0237)|all_hematologic(60;0.0592)|Esophageal squamous(56;0.179)|all_neural(102;0.202) all cancers(43;3.38e-24)|Epithelial(43;1.4e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.09e-09)|GBM - Glioblastoma multiforme(59;3.33e-05)|Colorectal(24;3.58e-05)|STAD - Stomach adenocarcinoma(60;4.21e-05)|COAD - Colon adenocarcinoma(29;0.000171)|LUSC - Lung squamous cell carcinoma(40;0.0145)|READ - Rectum adenocarcinoma(43;0.242) agaagaagaagaagaatcagg 0.443000 3 2 0 0 1 0 0 SLCO1A2 6579 broad.mit.edu 37 12 21457366 21457366 + Missense_Mutation SNP T T C TCGA-T3-A92N-01A-11D-A391-08 TCGA-T3-A92N-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40005278-5569-44a5-94a2-9311946aa7ca 8e5216b7-93fa-440f-bf1a-c304f42b98da g.chr12:21457366T>C ENST00000307378.6 - 7 1304 c.584A>G c.(583-585)tAt>tGt p.Y195C SLCO1A2_ENST00000458504.1_Missense_Mutation_p.Y63C|SLCO1A2_ENST00000452078.1_Missense_Mutation_p.Y195C|SLCO1A2_ENST00000390670.3_Missense_Mutation_p.Y193C|SLCO1A2_ENST00000537524.1_Missense_Mutation_p.Y63C NM_134431.3 NP_602307.1 P46721 SO1A2_HUMAN solute carrier organic anion transporter family, member 1A2 195 bile acid metabolic process|sodium-independent organic anion transport integral to membrane|plasma membrane bile acid transmembrane transporter activity|organic anion transmembrane transporter activity breast(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(6)|upper_aerodigestive_tract(1) 48 CTTACCAATATATAAAGGAGA 0.343000 26 28 0 0 1 0 0 SASH1 23328 broad.mit.edu 37 6 148854978 148854978 + Silent SNP C C T TCGA-T3-A92N-01A-11D-A391-08 TCGA-T3-A92N-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40005278-5569-44a5-94a2-9311946aa7ca 8e5216b7-93fa-440f-bf1a-c304f42b98da g.chr6:148854978C>T ENST00000367467.3 + 15 2281 c.1806C>T c.(1804-1806)gtC>gtT p.V602V NM_015278.3 NP_056093.3 O94885 SASH1_HUMAN SAM and SH3 domain containing 1 602 SH3. protein binding breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 52 Ovarian(120;0.0169) OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701) ACAACAAAGTCGGCACGTTCA 0.552000 32 77 0 0 1 0 0 NDRG2 57447 broad.mit.edu 37 14 21487277 21487277 + Silent SNP G G A TCGA-T3-A92N-01A-11D-A391-08 TCGA-T3-A92N-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40005278-5569-44a5-94a2-9311946aa7ca 8e5216b7-93fa-440f-bf1a-c304f42b98da g.chr14:21487277G>A ENST00000556147.1 - 11 1699 c.759C>T c.(757-759)ctC>ctT p.L253L NDRG2_ENST00000298684.5_Silent_p.L210L|NDRG2_ENST00000397853.3_Silent_p.L253L|NDRG2_ENST00000397858.1_Silent_p.L253L|NDRG2_ENST00000554277.1_5'UTR|NDRG2_ENST00000397844.2_Silent_p.L239L|NDRG2_ENST00000397851.2_Silent_p.L253L|NDRG2_ENST00000397847.2_Silent_p.L253L|NDRG2_ENST00000360463.3_Silent_p.L239L|NDRG2_ENST00000554104.1_Silent_p.L166L|NDRG2_ENST00000298687.5_Silent_p.L253L|NDRG2_ENST00000350792.3_Silent_p.L239L|NDRG2_ENST00000397855.3_Silent_p.L210L|NDRG2_ENST00000553503.1_Silent_p.L239L|NDRG2_ENST00000554143.1_Silent_p.L239L|NDRG2_ENST00000403829.3_Silent_p.L249L|NDRG2_ENST00000555158.1_Silent_p.L239L|NDRG2_ENST00000397856.3_Silent_p.L239L Q9UN36 NDRG2_HUMAN NDRG family member 2 253 cell differentiation|nervous system development centrosome|cytosol|Golgi apparatus|nucleus|perinuclear region of cytoplasm breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1) 23 all_cancers(95;0.00185) OV - Ovarian serous cystadenocarcinoma(11;6.85e-11)|Epithelial(56;9.49e-09)|all cancers(55;3.84e-08) GBM - Glioblastoma multiforme(265;0.0191) AGTCTTACCTGAGGGTGATAT 0.463000 19 46 0 0 1 0 0 SNIP1 79753 broad.mit.edu 37 1 38003454 38003454 + Silent SNP G G A TCGA-T3-A92N-01A-11D-A391-08 TCGA-T3-A92N-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40005278-5569-44a5-94a2-9311946aa7ca 8e5216b7-93fa-440f-bf1a-c304f42b98da g.chr1:38003454G>A ENST00000296215.6 - 4 1158 c.1086C>T c.(1084-1086)ttC>ttT p.F362F NM_024700.3 NP_078976.2 Q8TAD8 SNIP1_HUMAN Smad nuclear interacting protein 1 362 production of miRNAs involved in gene silencing by miRNA nucleus protein binding breast(2)|cervix(2)|endometrium(1)|large_intestine(3)|lung(15)|ovary(1)|upper_aerodigestive_tract(1) 25 Myeloproliferative disorder(586;0.0393) CTCTGCTACTGAATCCAAATT 0.428000 38 101 0 0 1 0 0 LAG3 3902 broad.mit.edu 37 12 6884441 6884441 + Missense_Mutation SNP C C A TCGA-T3-A92N-01A-11D-A391-08 TCGA-T3-A92N-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40005278-5569-44a5-94a2-9311946aa7ca 8e5216b7-93fa-440f-bf1a-c304f42b98da g.chr12:6884441C>A ENST00000203629.2 + 5 1117 c.784C>A c.(784-786)Ctg>Atg p.L262M LAG3_ENST00000441671.2_Missense_Mutation_p.L262M NM_002286.5 NP_002277.4 P18627 LAG3_HUMAN lymphocyte-activation gene 3 262 integral to membrane antigen binding|MHC class II protein binding breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 17 CTCTTCAGGTCTGGAGCCCCC 0.602000 41 160 7.63091e-17 8.33422e-17 1 1 0 PTCH1 5727 broad.mit.edu 37 9 98220567 98220567 + Missense_Mutation SNP C C T TCGA-T3-A92N-01A-11D-A391-08 TCGA-T3-A92N-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40005278-5569-44a5-94a2-9311946aa7ca 8e5216b7-93fa-440f-bf1a-c304f42b98da g.chr9:98220567C>T ENST00000430669.2 - 18 3283 c.2698G>A c.(2698-2700)Gca>Aca p.A900T PTCH1_ENST00000418258.1_Missense_Mutation_p.A815T|PTCH1_ENST00000421141.1_Missense_Mutation_p.A815T|PTCH1_ENST00000429896.2_Missense_Mutation_p.A815T|PTCH1_ENST00000375274.2_Missense_Mutation_p.A965T|PTCH1_ENST00000437951.1_Missense_Mutation_p.A900T|PTCH1_ENST00000331920.6_Missense_Mutation_p.A966T Q13635 PTC1_HUMAN patched 1 966 embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway integral to plasma membrane hedgehog receptor activity p.I963fs*2(1) NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1) 490 Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136) ATGGGCTCTGCTGCCGGGACT 0.512000 12 15 0 0 1 0 0 RALYL 138046 broad.mit.edu 37 8 85774568 85774568 + Missense_Mutation SNP C C T TCGA-T3-A92N-01A-11D-A391-08 TCGA-T3-A92N-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40005278-5569-44a5-94a2-9311946aa7ca 8e5216b7-93fa-440f-bf1a-c304f42b98da g.chr8:85774568C>T ENST00000521268.1 + 6 1556 c.451C>T c.(451-453)Cgt>Tgt p.R151C RALYL_ENST00000517638.1_Missense_Mutation_p.R164C|RALYL_ENST00000522455.1_Missense_Mutation_p.R151C|RALYL_ENST00000521376.1_Missense_Mutation_p.R62C|RALYL_ENST00000518566.1_Missense_Mutation_p.R140C|RALYL_ENST00000521695.1_Missense_Mutation_p.R151C|RALYL_ENST00000523850.1_Missense_Mutation_p.R78C NM_173848.5 NP_776247.3 Q86SE5 RALYL_HUMAN RALY RNA binding protein-like 151 identical protein binding|nucleotide binding|RNA binding p.R151G(4) endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1) 24 TCCACCTCCCCGTGCAGTAAT 0.502000 29 14 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 8987333 8987333 + Splice_Site SNP G G A TCGA-T3-A92N-01A-11D-A391-08 TCGA-T3-A92N-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40005278-5569-44a5-94a2-9311946aa7ca 8e5216b7-93fa-440f-bf1a-c304f42b98da g.chr19:8987333G>A ENST00000397910.4 - 68 41957 c.41752_splice c.e68-1 p.T13918_splice MUC16_ENST00000380951.5_Splice_Site_p.T559_splice NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 13921 Missing (in Ref. 3; AAK74120). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding p.T13918T(1) NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TGACCACCCCGGCTAGGGCAG 0.597000 9 23 0 0 1 0 0 KIF20B 9585 broad.mit.edu 37 10 91512372 91512372 + Missense_Mutation SNP A A G TCGA-T3-A92N-01A-11D-A391-08 TCGA-T3-A92N-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40005278-5569-44a5-94a2-9311946aa7ca 8e5216b7-93fa-440f-bf1a-c304f42b98da g.chr10:91512372A>G ENST00000416354.1 + 25 4433 c.4361A>G c.(4360-4362)aAt>aGt p.N1454S KIF20B_ENST00000394289.2_Missense_Mutation_p.N1424S|KIF20B_ENST00000371728.3_Missense_Mutation_p.N1424S|KIF20B_ENST00000260753.4_Missense_Mutation_p.N1384S|KIF20B_ENST00000478929.1_3'UTR Q96Q89 KI20B_HUMAN kinesin family member 20B 1424 cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis centrosome|microtubule|nucleolus|nucleoplasm|spindle ATP binding|ATPase activity|microtubule motor activity|WW domain binding endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1) 58 ACCAAAAACAATCAAAGGTCA 0.299000 12 37 0 0 1 0 0 PRKCG 5582 broad.mit.edu 37 19 54387494 54387494 + Missense_Mutation SNP G G A TCGA-T3-A92N-01A-11D-A391-08 TCGA-T3-A92N-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40005278-5569-44a5-94a2-9311946aa7ca 8e5216b7-93fa-440f-bf1a-c304f42b98da g.chr19:54387494G>A ENST00000542049.1 + 2 112 c.55G>A c.(55-57)Gga>Aga p.G19R PRKCG_ENST00000540413.1_Silent_p.T94T|PRKCG_ENST00000536044.1_Silent_p.T94T|PRKCG_ENST00000263431.3_Silent_p.T94T P05129 KPCG_HUMAN protein kinase C, gamma 0 activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission cytosol ATP binding|protein kinase C activity|zinc ion binding large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1) 10 all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218) GBM - Glioblastoma multiforme(134;0.0521) GCCCCCAGACGGACGTGAGTG 0.582000 24 67 0 0 1 0 0 DOCK1 1793 broad.mit.edu 37 10 128795100 128795100 + Missense_Mutation SNP C C T TCGA-T3-A92N-01A-11D-A391-08 TCGA-T3-A92N-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40005278-5569-44a5-94a2-9311946aa7ca 8e5216b7-93fa-440f-bf1a-c304f42b98da g.chr10:128795100C>T ENST00000280333.6 + 7 671 c.562C>T c.(562-564)Cat>Tat p.H188Y NM_001380.3 NP_001371.1 Q14185 DOCK1_HUMAN dedicator of cytokinesis 1 188 apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction cytosol|membrane GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding p.H188Y(1) NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 72 all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14) BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115) CTTCAGAGCTCATGAAATAGC 0.363000 60 57 0 0 1 0 0 CD5L 922 broad.mit.edu 37 1 157805814 157805814 + Missense_Mutation SNP G G A TCGA-T3-A92N-01A-11D-A391-08 TCGA-T3-A92N-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40005278-5569-44a5-94a2-9311946aa7ca 8e5216b7-93fa-440f-bf1a-c304f42b98da g.chr1:157805814G>A ENST00000368174.4 - 3 283 c.187C>T c.(187-189)Cgg>Tgg p.R63W CD5L_ENST00000484609.1_5'UTR NM_005894.2 NP_005885.1 O43866 CD5L_HUMAN CD5 molecule-like 63 SRCR 1. apoptosis|cellular defense response extracellular space|membrane scavenger receptor activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1) 52 all_hematologic(112;0.0378) LUSC - Lung squamous cell carcinoma(543;0.24) CCCAGCTCCCGGCACAACACA 0.577000 87 67 0 0 1 0 0 NPR3 4883 broad.mit.edu 37 5 32712325 32712325 + Missense_Mutation SNP C C T TCGA-T3-A92N-01A-11D-A391-08 TCGA-T3-A92N-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40005278-5569-44a5-94a2-9311946aa7ca 8e5216b7-93fa-440f-bf1a-c304f42b98da g.chr5:32712325C>T ENST00000265074.8 + 1 786 c.443C>T c.(442-444)tCg>tTg p.S148L NPR3_ENST00000415167.2_Missense_Mutation_p.S148L|NPR3_ENST00000434067.2_Intron|NPR3_ENST00000415685.2_Intron NM_000908.3|NM_001204375.1 NP_000899.1|NP_001191304.1 P17342 ANPRC_HUMAN natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C) 148 osteoclast proliferation|positive regulation of urine volume|regulation of blood pressure|regulation of osteoblast proliferation|skeletal system development integral to membrane hormone binding|natriuretic peptide receptor activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 24 Nesiritide(DB04899) CGGCTTGCATCGCACTGGGAC 0.701000 30 84 0 0 1 0 0 SRRM5 100170229 broad.mit.edu 37 19 44118399 44118399 + Nonsense_Mutation SNP C C A TCGA-T3-A92N-01A-11D-A391-08 TCGA-T3-A92N-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40005278-5569-44a5-94a2-9311946aa7ca 8e5216b7-93fa-440f-bf1a-c304f42b98da g.chr19:44118399C>A ENST00000526798.1 + 3 2448 c.2171C>A c.(2170-2172)tCa>tAa p.S724* ZNF428_ENST00000300811.3_Missense_Mutation_p.D20Y|SRRM5_ENST00000607544.1_Nonsense_Mutation_p.S709*|SRRM5_ENST00000417606.1_Nonsense_Mutation_p.S709* B3KS81 SRRM5_HUMAN serine/arginine repetitive matrix 5 709 endometrium(11)|kidney(2)|skin(1)|stomach(1) 15 AGGTCTTCATCATCTTCTTCC 0.592000 18 33 2.37509e-13 2.5703e-13 1 1 0 TPD52 7163 broad.mit.edu 37 8 80992685 80992685 + Missense_Mutation SNP C C T TCGA-T3-A92N-01A-11D-A391-08 TCGA-T3-A92N-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40005278-5569-44a5-94a2-9311946aa7ca 8e5216b7-93fa-440f-bf1a-c304f42b98da g.chr8:80992685C>T ENST00000520527.1 - 1 366 c.4G>A c.(4-6)Gat>Aat p.D2N TPD52_ENST00000519303.2_Intron|TPD52_ENST00000518937.1_Intron|TPD52_ENST00000517427.1_Missense_Mutation_p.D2N|TPD52_ENST00000537855.1_Missense_Mutation_p.D2N|TPD52_ENST00000379097.3_Missense_Mutation_p.D2N|TPD52_ENST00000448733.2_Missense_Mutation_p.D2N|TPD52_ENST00000379096.5_Intron P55327 TPD52_HUMAN tumor protein D52 2 anatomical structure morphogenesis|B cell differentiation|secretion endoplasmic reticulum|perinuclear region of cytoplasm calcium ion binding|protein heterodimerization activity|protein homodimerization activity endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1) 8 all_epithelial(4;1.13e-09)|Lung NSC(7;9.71e-07)|all_lung(9;3.75e-06) Lung NSC(129;3.55e-06)|all_lung(136;1.53e-05)|Acute lymphoblastic leukemia(644;0.158) BRCA - Breast invasive adenocarcinoma(6;0.00181)|Epithelial(68;0.0149)|all cancers(69;0.0612) TCTCTACAATCCATTCCAGAC 0.453000 14 62 0 0 1 0 0 POTEH 23784 broad.mit.edu 37 22 16279195 16279195 + Splice_Site SNP C C A TCGA-T3-A92N-01A-11D-A391-08 TCGA-T3-A92N-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40005278-5569-44a5-94a2-9311946aa7ca 8e5216b7-93fa-440f-bf1a-c304f42b98da g.chr22:16279195C>A ENST00000343518.6 - 4 1079 c.1028_splice c.e4+1 p.R343_splice NM_001136213.1 NP_001129685.1 Q6S545 POTEH_HUMAN POTE ankyrin domain family, member H 343 NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2) 37 AGAACTATACCTTCCATATCT 0.303000 22 112 1.10923e-09 1.17887e-09 1 1 0 ANK3 288 broad.mit.edu 37 10 61829895 61829895 + Missense_Mutation SNP T T C TCGA-T3-A92N-01A-11D-A391-08 TCGA-T3-A92N-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40005278-5569-44a5-94a2-9311946aa7ca 8e5216b7-93fa-440f-bf1a-c304f42b98da g.chr10:61829895T>C ENST00000280772.1 - 37 10935 c.10744A>G c.(10744-10746)Aca>Gca p.T3582A ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000355288.2_Intron NM_020987.3 NP_066267.2 Q12955 ANK3_HUMAN ankyrin 3, node of Ranvier (ankyrin G) 3582 establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 196 GCTGGCGTTGTATCAGGGGTT 0.493000 55 52 0 0 1 0 0 AXIN1 8312 broad.mit.edu 37 16 354309 354309 + Missense_Mutation SNP G G A TCGA-T3-A92N-01A-11D-A391-08 TCGA-T3-A92N-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40005278-5569-44a5-94a2-9311946aa7ca 8e5216b7-93fa-440f-bf1a-c304f42b98da g.chr16:354309G>A ENST00000262320.3 - 5 1620 c.1249C>T c.(1249-1251)Cgc>Tgc p.R417C AXIN1_ENST00000481769.1_5'UTR|AXIN1_ENST00000354866.3_Missense_Mutation_p.R417C NM_003502.3 NP_003493.1 O15169 AXIN1_HUMAN axin 1 417 Interaction with GSK3B (By similarity). activation of JUN kinase activity|activation of protein kinase activity|apoptosis|axial mesoderm formation|canonical Wnt receptor signaling pathway involved in neural plate anterior/posterior pattern formation|cellular protein complex assembly|cellular response to organic cyclic compound|cytoplasmic microtubule organization|determination of left/right symmetry|dorsal/ventral axis specification|embryonic eye morphogenesis|embryonic skeletal joint morphogenesis|forebrain anterior/posterior pattern formation|muscle cell development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|olfactory placode formation|optic placode formation|positive regulation of JNK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity|regulation of catenin import into nucleus|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway involved in somitogenesis APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|cell cortex|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|cytosol|lateral plasma membrane|nucleus|perinuclear region of cytoplasm|postsynaptic density armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|I-SMAD binding|p53 binding|protein complex scaffold|protein homodimerization activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding p.?(1) biliary_tract(27)|breast(4)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(20)|liver(81)|lung(5)|ovary(2)|prostate(3)|salivary_gland(7)|skin(5)|stomach(4)|thyroid(41)|upper_aerodigestive_tract(4)|urinary_tract(2) 221 all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187) CTCACCATGCGCACGCGCTTC 0.677000 31 33 0 0 1 0 0 SIRT1 23411 broad.mit.edu 37 10 69672542 69672542 + Missense_Mutation SNP G G A TCGA-T3-A92N-01A-11D-A391-08 TCGA-T3-A92N-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40005278-5569-44a5-94a2-9311946aa7ca 8e5216b7-93fa-440f-bf1a-c304f42b98da g.chr10:69672542G>A ENST00000212015.6 + 8 1722 c.1669G>A c.(1669-1671)Gac>Aac p.D557N SIRT1_ENST00000432464.1_Missense_Mutation_p.D262N|SIRT1_ENST00000403579.1_Missense_Mutation_p.D254N|SIRT1_ENST00000406900.1_Missense_Mutation_p.D254N NM_012238.4 NP_036370.2 Q96EB6 SIRT1_HUMAN sirtuin 1 557 apoptosis|cell aging|cellular response to hydrogen peroxide|cellular response to starvation|chromatin silencing at rDNA|DNA repair|DNA replication|establishment of chromatin silencing|histone H3 deacetylation|interspecies interaction between organisms|maintenance of chromatin silencing|muscle organ development|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of fat cell differentiation|negative regulation of helicase activity|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|peptidyl-lysine acetylation|peptidyl-lysine deacetylation|positive regulation of anti-apoptosis|positive regulation of chromatin silencing|positive regulation of DNA repair|regulation of apoptosis|regulation of cell proliferation|regulation of endodeoxyribonuclease activity|regulation of protein import into nucleus, translocation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|rRNA processing|transcription, DNA-dependent|triglyceride mobilization|white fat cell differentiation chromatin silencing complex|cytoplasm|nuclear euchromatin|nuclear heterochromatin|nuclear inner membrane|nucleolus|PML body|rDNA heterochromatin bHLH transcription factor binding|histone binding|HLH domain binding|identical protein binding|mitogen-activated protein kinase binding|NAD+ binding|NAD-dependent histone deacetylase activity (H3-K9 specific)|p53 binding|protein C-terminus binding|transcription corepressor activity|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(3)|skin(1) 14 CACACTTTTAGACCAAGCAGC 0.393000 74 45 0 0 1 0 0 ADGRG1 9289 broad.mit.edu 37 16 57690482 57690482 + Nonsense_Mutation SNP C C T TCGA-T3-A92N-01A-11D-A391-08 TCGA-T3-A92N-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40005278-5569-44a5-94a2-9311946aa7ca 8e5216b7-93fa-440f-bf1a-c304f42b98da g.chr16:57690482C>T ENST00000562631.1 + 9 1652 c.1120C>T c.(1120-1122)Caa>Taa p.Q374* GPR56_ENST00000538815.1_Nonsense_Mutation_p.Q374*|GPR56_ENST00000456916.1_Nonsense_Mutation_p.Q374*|GPR56_ENST00000388813.5_Nonsense_Mutation_p.Q374*|GPR56_ENST00000544297.1_Nonsense_Mutation_p.Q199*|GPR56_ENST00000568908.1_Nonsense_Mutation_p.Q374*|GPR56_ENST00000568909.1_Nonsense_Mutation_p.Q374*|GPR56_ENST00000379696.3_Nonsense_Mutation_p.Q374*|GPR56_ENST00000567835.1_Nonsense_Mutation_p.Q374*|GPR56_ENST00000388812.4_Nonsense_Mutation_p.Q374*|GPR56_ENST00000540164.2_Nonsense_Mutation_p.Q374*|GPR56_ENST00000379694.4_Nonsense_Mutation_p.Q204*|GPR56_ENST00000562558.1_Nonsense_Mutation_p.Q374* Q9Y653 GPR56_HUMAN G protein-coupled receptor 56 374 GPS. brain development|cell adhesion|cell-cell signaling|neuropeptide signaling pathway integral to plasma membrane G-protein coupled receptor activity kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1) 15 GAGAGAAACCCAAACATCCTG 0.607000 40 76 0 0 1 0 0 EP400 57634 broad.mit.edu 37 12 132511992 132511992 + Silent SNP G G C TCGA-T3-A92N-01A-11D-A391-08 TCGA-T3-A92N-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40005278-5569-44a5-94a2-9311946aa7ca 8e5216b7-93fa-440f-bf1a-c304f42b98da g.chr12:132511992G>C ENST00000333577.4 + 27 5242 c.5133G>C c.(5131-5133)ccG>ccC p.P1711P EP400_ENST00000389561.2_Silent_p.P1675P|EP400_ENST00000332482.4_Silent_p.P1638P|EP400_ENST00000330386.6_Silent_p.P1594P|EP400_ENST00000389562.2_Silent_p.P1674P Q96L91 EP400_HUMAN E1A binding protein p400 1711 histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 161 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) TTGGCGTTCCGGGCCGCGTGG 0.562000 19 34 0 0 1 0 0 PKN1 5585 broad.mit.edu 37 19 14581060 14581060 + Silent SNP G G A TCGA-T3-A92N-01A-11D-A391-08 TCGA-T3-A92N-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40005278-5569-44a5-94a2-9311946aa7ca 8e5216b7-93fa-440f-bf1a-c304f42b98da g.chr19:14581060G>A ENST00000242783.6 + 19 2544 c.2379G>A c.(2377-2379)acG>acA p.T793T PKN1_ENST00000342216.4_Silent_p.T799T NM_002741.3 NP_002732.3 Q16512 PKN1_HUMAN protein kinase N1 793 Protein kinase. activation of JUN kinase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent endosome|nucleus|plasma membrane androgen receptor binding|ATP binding|chromatin binding|GTP-Rho binding|histone binding|histone deacetylase binding|histone kinase activity (H3-T11 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|Rac GTPase binding breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(2)|upper_aerodigestive_tract(1) 31 CGTCGTACACGCGAGCTGTGG 0.637000 14 29 0 0 1 0 0 WBP1L 54838 broad.mit.edu 37 10 104572904 104572904 + Missense_Mutation SNP A A G TCGA-T3-A92N-01A-11D-A391-08 TCGA-T3-A92N-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40005278-5569-44a5-94a2-9311946aa7ca 8e5216b7-93fa-440f-bf1a-c304f42b98da g.chr10:104572904A>G ENST00000369889.4 + 4 987 c.845A>G c.(844-846)gAc>gGc p.D282G WBP1L_ENST00000448841.1_Missense_Mutation_p.D303G NM_017787.4 NP_060257.4 Q9NX94 OPA1L_HUMAN WW domain binding protein 1-like 282 integral to membrane GGGCCCCTGGACTTCTGCGAC 0.607000 62 63 0 0 1 0 0 BCRP7 100133163 broad.mit.edu 37 22 18845998 18845998 + RNA SNP G G A TCGA-T3-A92N-01A-11D-A391-08 TCGA-T3-A92N-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40005278-5569-44a5-94a2-9311946aa7ca 8e5216b7-93fa-440f-bf1a-c304f42b98da g.chr22:18845998G>A ENST00000412938.1 + 0 3356 CCCGTCCTGCGCAGGCCGACA 0.607000 4 79 0 0 1 0 0 SLK 9748 broad.mit.edu 37 10 105763081 105763081 + Silent SNP C C T TCGA-T3-A92N-01A-11D-A391-08 TCGA-T3-A92N-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40005278-5569-44a5-94a2-9311946aa7ca 8e5216b7-93fa-440f-bf1a-c304f42b98da g.chr10:105763081C>T ENST00000369755.3 + 9 2690 c.2145C>T c.(2143-2145)atC>atT p.I715I SLK_ENST00000335753.4_Silent_p.I715I NM_014720.2 NP_055535.2 Q9H2G2 SLK_HUMAN STE20-like kinase 715 apoptosis|nucleotide-excision repair cytoplasm|plasma membrane ATP binding|DNA binding|nuclease activity|protein serine/threonine kinase activity kidney(1)|lung(1)|ovary(2)|skin(2)|stomach(2) 8 Colorectal(252;0.178) Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165) GTATTAATATCAACTCTGACA 0.348000 47 47 0 0 1 0 0 BCRP7 100133163 broad.mit.edu 37 22 18845990 18845990 + RNA SNP C C T TCGA-T3-A92N-01A-11D-A391-08 TCGA-T3-A92N-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40005278-5569-44a5-94a2-9311946aa7ca 8e5216b7-93fa-440f-bf1a-c304f42b98da g.chr22:18845990C>T ENST00000412938.1 + 0 3348 ACCTCCATCCCGTCCTGCGCA 0.582000 5 75 0 0 1 0 0 ARID3B 10620 broad.mit.edu 37 15 74887992 74887992 + Silent SNP G G A TCGA-T3-A92N-01A-11D-A391-08 TCGA-T3-A92N-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40005278-5569-44a5-94a2-9311946aa7ca 8e5216b7-93fa-440f-bf1a-c304f42b98da g.chr15:74887992G>A ENST00000346246.5 + 9 1791 c.1560G>A c.(1558-1560)acG>acA p.T520T NM_006465.2 NP_006456.1 Q8IVW6 ARI3B_HUMAN AT rich interactive domain 3B (BRIGHT-like) 521 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(2) 14 ACCTCATCACGGGGTCTGCTC 0.642000 5 33 0 0 1 0 0 FNDC1 84624 broad.mit.edu 37 6 159653694 159653694 + Missense_Mutation SNP C C T TCGA-T3-A92N-01A-11D-A391-08 TCGA-T3-A92N-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40005278-5569-44a5-94a2-9311946aa7ca 8e5216b7-93fa-440f-bf1a-c304f42b98da g.chr6:159653694C>T ENST00000297267.9 + 11 2350 c.2150C>T c.(2149-2151)tCa>tTa p.S717L FNDC1_ENST00000340366.6_Missense_Mutation_p.S654L NM_032532.2 NP_115921.2 Q4ZHG4 FNDC1_HUMAN fibronectin type III domain containing 1 717 Ser-rich. extracellular region NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3) 93 Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195) OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05) GCCCCACCCTCAAGACTTTCT 0.657000 3 17 0 0 1 0 0 EIF3A 8661 broad.mit.edu 37 10 120817671 120817671 + Missense_Mutation SNP C C T TCGA-T3-A92N-01A-11D-A391-08 TCGA-T3-A92N-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40005278-5569-44a5-94a2-9311946aa7ca 8e5216b7-93fa-440f-bf1a-c304f42b98da g.chr10:120817671C>T ENST00000369144.3 - 12 1901 c.1774G>A c.(1774-1776)Gaa>Aaa p.E592K EIF3A_ENST00000541549.1_Missense_Mutation_p.E558K|EIF3A_ENST00000478852.1_Intron NM_003750.2 NP_003741.1 Q14152 EIF3A_HUMAN eukaryotic translation initiation factor 3, subunit A 592 Glu-rich. formation of translation initiation complex cytosol|eukaryotic translation initiation factor 3 complex protein binding|structural molecule activity|translation initiation factor activity endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3) 56 Lung NSC(174;0.094)|all_lung(145;0.123) all cancers(201;0.0236) TCCAATTCTTCTTTCTCACGC 0.502000 20 25 0 0 1 0 0 RNF111 54778 broad.mit.edu 37 15 59350698 59350698 + Missense_Mutation SNP G G A TCGA-T3-A92N-01A-11D-A391-08 TCGA-T3-A92N-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40005278-5569-44a5-94a2-9311946aa7ca 8e5216b7-93fa-440f-bf1a-c304f42b98da g.chr15:59350698G>A ENST00000348370.4 + 5 1748 c.1315G>A c.(1315-1317)Gag>Aag p.E439K RNF111_ENST00000434298.1_Missense_Mutation_p.E439K|RNF111_ENST00000557998.1_Missense_Mutation_p.E439K|RNF111_ENST00000561186.1_Missense_Mutation_p.E439K|RNF111_ENST00000559209.1_Missense_Mutation_p.E439K NM_001270528.1|NM_001270529.1|NM_017610.7 NP_001257457.1|NP_001257458.1|NP_060080.6 Q6ZNA4 RN111_HUMAN ring finger protein 111 439 Ser-rich. multicellular organismal development|positive regulation of transcription, DNA-dependent cytoplasm|nucleus protein binding|ubiquitin-protein ligase activity|zinc ion binding breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 all cancers(107;0.194) CACAGTGTCAGAGACTTCAGC 0.448000 144 218 0 0 1 0 0 ATP1A3 478 broad.mit.edu 37 19 42471431 42471431 + Missense_Mutation SNP G G A TCGA-T3-A92N-01A-11D-A391-08 TCGA-T3-A92N-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40005278-5569-44a5-94a2-9311946aa7ca 8e5216b7-93fa-440f-bf1a-c304f42b98da g.chr19:42471431G>A ENST00000545399.1 - 22 3175 c.3022C>T c.(3022-3024)Cgc>Tgc p.R1008C ATP1A3_ENST00000302102.5_Missense_Mutation_p.R995C|ATP1A3_ENST00000602133.1_Missense_Mutation_p.R965C|ATP1A3_ENST00000543770.1_Missense_Mutation_p.R1006C NM_001256214.1 NP_001243143.1 P13637 AT1A3_HUMAN ATPase, Na+/K+ transporting, alpha 3 polypeptide 995 ATP biosynthetic process endoplasmic reticulum|Golgi apparatus ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity p.R995C(1) NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 52 ATGAGTTTGCGGATTTCGTCG 0.662000 8 35 0 0 1 0 0 RNF17 56163 broad.mit.edu 37 13 25404708 25404708 + Missense_Mutation SNP A A C TCGA-T3-A92N-01A-11D-A391-08 TCGA-T3-A92N-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40005278-5569-44a5-94a2-9311946aa7ca 8e5216b7-93fa-440f-bf1a-c304f42b98da g.chr13:25404708A>C ENST00000255324.5 + 17 2384 c.2332A>C c.(2332-2334)Aag>Cag p.K778Q RNF17_ENST00000381921.1_Missense_Mutation_p.K778Q NM_001184993.1|NM_031277.2 NP_001171922.1|NP_112567.2 Q9BXT8 RNF17_HUMAN ring finger protein 17 778 Tudor 1. multicellular organismal development cytoplasm|nucleus hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6) 36 Lung SC(185;0.0225)|Breast(139;0.077) all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524) GCGTAAAATAAAGGATGAGTT 0.328000 24 42 0 0 1 0 0 CRYGD 1421 broad.mit.edu 37 2 208986513 208986513 + Missense_Mutation SNP A A G TCGA-T3-A92N-01A-11D-A391-08 TCGA-T3-A92N-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40005278-5569-44a5-94a2-9311946aa7ca 8e5216b7-93fa-440f-bf1a-c304f42b98da g.chr2:208986513A>G ENST00000264376.4 - 3 436 c.409T>C c.(409-411)Tcc>Ccc p.S137P NM_006891.3 NP_008822.2 P07320 CRGD_HUMAN crystallin, gamma D 137 Beta/gamma crystallin 'Greek key' 4. cellular response to reactive oxygen species|visual perception soluble fraction protein binding|structural constituent of eye lens breast(1)|endometrium(1)|lung(3) 5 LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.0858)|Lung(261;0.133) CGGTAGTTGGACAGCTCGTAG 0.592000 35 63 0 0 1 0 0 SNHG14 104472715 broad.mit.edu 37 15 25430620 25430620 + RNA SNP G G A TCGA-T3-A92N-01A-11D-A391-08 TCGA-T3-A92N-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40005278-5569-44a5-94a2-9311946aa7ca 8e5216b7-93fa-440f-bf1a-c304f42b98da g.chr15:25430620G>A ENST00000424208.1 + 0 481 NR_003305.1 ATTGCGTTAGGCCCTTTGGCC 0.587000 10 11 0 0 1 0 0 ABCC1 4363 broad.mit.edu 37 16 16208862 16208862 + Missense_Mutation SNP G G T TCGA-T3-A92N-01A-11D-A391-08 TCGA-T3-A92N-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40005278-5569-44a5-94a2-9311946aa7ca 8e5216b7-93fa-440f-bf1a-c304f42b98da g.chr16:16208862G>T ENST00000399408.2 + 24 3524 c.3349G>T c.(3349-3351)Gtt>Ttt p.V1117F ABCC1_ENST00000399410.3_Missense_Mutation_p.V1107F|ABCC1_ENST00000346370.5_Missense_Mutation_p.V1051F|ABCC1_ENST00000345148.5_Missense_Mutation_p.V1107F|ABCC1_ENST00000351154.5_Missense_Mutation_p.V1048F|ABCC1_ENST00000349029.5_Missense_Mutation_p.V992F P33527 MRP1_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 1 1107 ABC transmembrane type-1 2. hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3) 56 Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138) TGCCTGCATCGTTATCCTGCT 0.572000 12 34 0.000151284 0.000154545 1 1 0 SLC6A5 9152 broad.mit.edu 37 11 20636288 20636288 + Missense_Mutation SNP C C A TCGA-T3-A92N-01A-11D-A391-08 TCGA-T3-A92N-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40005278-5569-44a5-94a2-9311946aa7ca 8e5216b7-93fa-440f-bf1a-c304f42b98da g.chr11:20636288C>A ENST00000525748.1 + 6 1322 c.1049C>A c.(1048-1050)gCt>gAt p.A350D NM_004211.3 NP_004202.2 Q9Y345 SC6A5_HUMAN solute carrier family 6 (neurotransmitter transporter), member 5 350 synaptic transmission integral to membrane|plasma membrane glycine:sodium symporter activity|neurotransmitter:sodium symporter activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 63 Glycine(DB00145) TGCATGACCGCTTATCCCAAC 0.398000 73 32 8.73484e-25 9.71905e-25 1 1 0 LOC101927079 101927079 broad.mit.edu 37 15 22332570 22332570 + RNA SNP T T C TCGA-T3-A92N-01A-11D-A391-08 TCGA-T3-A92N-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40005278-5569-44a5-94a2-9311946aa7ca 8e5216b7-93fa-440f-bf1a-c304f42b98da g.chr15:22332570T>C ENST00000558896.1 + 0 377 CCCATGCTCATCTGCTCCAAT 0.398000 6 127 0 0 1 0 0 DNM1P46 196968 broad.mit.edu 37 15 100339997 100339997 + RNA SNP G G C TCGA-T3-A92N-01A-11D-A391-08 TCGA-T3-A92N-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40005278-5569-44a5-94a2-9311946aa7ca 8e5216b7-93fa-440f-bf1a-c304f42b98da g.chr15:100339997G>C ENST00000341853.1 - 0 929 NR_003260.1 GTGTCTTCTCGTTCCCACGCG 0.612000 4 40 0 0 1 0 0 MUC2 4583 broad.mit.edu 37 11 1094756 1094756 + Silent SNP G G A TCGA-T3-A92N-01A-11D-A391-08 TCGA-T3-A92N-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40005278-5569-44a5-94a2-9311946aa7ca 8e5216b7-93fa-440f-bf1a-c304f42b98da g.chr11:1094756G>A ENST00000441003.2 + 31 5871 c.5844G>A c.(5842-5844)acG>acA p.T1948T MUC2_ENST00000361558.6_Silent_p.T86T|MUC2_ENST00000333592.6_Silent_p.T236T NM_002457.2 NP_002448.2 Q02817 MUC2_HUMAN mucin 2, oligomeric mucus/gel-forming 1979 inner mucus layer|outer mucus layer protein binding NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 102 all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191) BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) Pranlukast(DB01411) GGACCCCAACGCCGACCCCAC 0.632000 74 28 0 0 1 0 0 UTP14A 10813 broad.mit.edu 37 X 129063563 129063563 + Silent SNP G G A TCGA-T3-A92N-01A-11D-A391-08 TCGA-T3-A92N-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40005278-5569-44a5-94a2-9311946aa7ca 8e5216b7-93fa-440f-bf1a-c304f42b98da g.chrX:129063563G>A ENST00000394422.3 + 15 2323 c.2295G>A c.(2293-2295)ctG>ctA p.L765L UTP14A_ENST00000371051.5_Silent_p.L711L|RP4-537K23.4_ENST00000432062.1_RNA|UTP14A_ENST00000425117.2_Silent_p.L713L|UTP14A_ENST00000371042.3_Silent_p.L597L NM_006649.3 NP_006640.2 Q9BVJ6 UT14A_HUMAN UTP14, U3 small nucleolar ribonucleoprotein, homolog A (yeast) 765 rRNA processing nucleolus|small-subunit processome protein binding breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(16)|ovary(3)|urinary_tract(1) 32 AAAAACAGCTGAAGAAATGCT 0.483000 32 10 0 0 1 0 0 DDX46 9879 broad.mit.edu 37 5 134153352 134153352 + Missense_Mutation SNP A A G TCGA-T3-A92N-01A-11D-A391-08 TCGA-T3-A92N-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40005278-5569-44a5-94a2-9311946aa7ca 8e5216b7-93fa-440f-bf1a-c304f42b98da g.chr5:134153352A>G ENST00000452510.2 + 20 2938 c.2780A>G c.(2779-2781)aAt>aGt p.N927S DDX46_ENST00000354283.4_Missense_Mutation_p.N926S NM_014829.2 NP_055644.2 Q7L014 DDX46_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 46 926 mRNA processing|RNA splicing Cajal body|nuclear speck ATP binding|ATP-dependent helicase activity|RNA binding NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 30 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) GGTGGACAGAATGAATCTTTT 0.373000 9 38 0 0 1 0 0 PLCB1 23236 broad.mit.edu 37 20 8745848 8745848 + Nonsense_Mutation SNP A A T TCGA-T3-A92N-01A-11D-A391-08 TCGA-T3-A92N-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40005278-5569-44a5-94a2-9311946aa7ca 8e5216b7-93fa-440f-bf1a-c304f42b98da g.chr20:8745848A>T ENST00000378641.3 + 26 3248 c.2773A>T c.(2773-2775)Aaa>Taa p.K925* PLCB1_ENST00000338037.6_Nonsense_Mutation_p.K925*|PLCB1_ENST00000494924.1_3'UTR|PLCB1_ENST00000378637.2_Nonsense_Mutation_p.K925* NM_182734.1 NP_877398.1 Q9NQ66 PLCB1_HUMAN phospholipase C, beta 1 (phosphoinositide-specific) 925 activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission cytosol|nuclear chromatin|nuclear speck calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4) 95 ACTTCAAAAGAAACACTACAA 0.373000 13 52 0 0 1 0 0 GAPVD1 26130 broad.mit.edu 37 9 128099532 128099532 + Missense_Mutation SNP T T A TCGA-T3-A92N-01A-11D-A391-08 TCGA-T3-A92N-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40005278-5569-44a5-94a2-9311946aa7ca 8e5216b7-93fa-440f-bf1a-c304f42b98da g.chr9:128099532T>A ENST00000470056.1 + 15 2699 c.2539T>A c.(2539-2541)Tat>Aat p.Y847N GAPVD1_ENST00000394105.2_Missense_Mutation_p.Y874N|GAPVD1_ENST00000297933.6_Missense_Mutation_p.Y847N|GAPVD1_ENST00000265956.4_Missense_Mutation_p.Y821N|GAPVD1_ENST00000394083.2_Missense_Mutation_p.Y826N|GAPVD1_ENST00000394104.2_Missense_Mutation_p.Y847N|GAPVD1_ENST00000312123.9_Missense_Mutation_p.Y826N|GAPVD1_ENST00000495955.1_Missense_Mutation_p.Y847N Q14C86 GAPD1_HUMAN GTPase activating protein and VPS9 domains 1 847 endocytosis|regulation of protein transport|regulation of small GTPase mediated signal transduction|signal transduction cytosol|endosome|membrane GTPase activating protein binding|GTPase activator activity|guanyl-nucleotide exchange factor activity central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 44 AAAGGTTCACTATGCTAGGCC 0.478000 63 51 0 0 1 0 0 DNAJB9 4189 broad.mit.edu 37 7 108213675 108213675 + Missense_Mutation SNP T T A TCGA-T3-A92N-01A-11D-A391-08 TCGA-T3-A92N-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40005278-5569-44a5-94a2-9311946aa7ca 8e5216b7-93fa-440f-bf1a-c304f42b98da g.chr7:108213675T>A ENST00000249356.3 + 3 1096 c.550T>A c.(550-552)Tct>Act p.S184T DNAJB9_ENST00000465725.1_Intron NM_012328.2 NP_036460.1 Q9UBS3 DNJB9_HUMAN DnaJ (Hsp40) homolog, subfamily B, member 9 184 ER-associated protein catabolic process|protein folding endoplasmic reticulum|nucleolus heat shock protein binding|misfolded protein binding|unfolded protein binding central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1) 13 TGGTTTTGACTCTACCAATCA 0.358000 42 49 0 0 1 0 0 PPP1R18 170954 broad.mit.edu 37 6 30653531 30653531 + Nonsense_Mutation SNP G G A TCGA-T3-A92N-01A-11D-A391-08 TCGA-T3-A92N-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40005278-5569-44a5-94a2-9311946aa7ca 8e5216b7-93fa-440f-bf1a-c304f42b98da g.chr6:30653531G>A ENST00000274853.3 - 1 2141 c.265C>T c.(265-267)Cga>Tga p.R89* PPP1R18_ENST00000488324.1_Intron|PPP1R18_ENST00000399199.3_Nonsense_Mutation_p.R89* NM_133471.3 NP_597728.1 Q6NYC8 PHTNS_HUMAN protein phosphatase 1, regulatory subunit 18 89 cytoplasm|cytoskeleton actin binding CGGATGAATCGGTTCTGGTGC 0.637000 14 16 0 0 1 0 0 SPTA1 6708 broad.mit.edu 37 1 158604380 158604380 + Missense_Mutation SNP C C T TCGA-T3-A92N-01A-11D-A391-08 TCGA-T3-A92N-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40005278-5569-44a5-94a2-9311946aa7ca 8e5216b7-93fa-440f-bf1a-c304f42b98da g.chr1:158604380C>T ENST00000368148.3 - 39 5698 c.5518G>A c.(5518-5520)Gct>Act p.A1840T SPTA1_ENST00000461624.1_5'UTR|SPTA1_ENST00000368147.3_Missense_Mutation_p.A1840T NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 (elliptocytosis 2) 1840 actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6) 307 all_hematologic(112;0.0378) ACAGCCAAAGCATTCTTTTCA 0.403000 45 49 0 0 1 0 0 PPM1B 5495 broad.mit.edu 37 2 44428690 44428690 + Missense_Mutation SNP C C T TCGA-T3-A92N-01A-11D-A391-08 TCGA-T3-A92N-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40005278-5569-44a5-94a2-9311946aa7ca 8e5216b7-93fa-440f-bf1a-c304f42b98da g.chr2:44428690C>T ENST00000378551.2 + 2 764 c.352C>T c.(352-354)Cgt>Tgt p.R118C PPM1B_ENST00000378540.4_3'UTR|PPM1B_ENST00000345249.4_Intron|PPM1B_ENST00000409895.4_Missense_Mutation_p.R118C|PPM1B_ENST00000409432.3_Missense_Mutation_p.R118C|PPM1B_ENST00000282412.4_Missense_Mutation_p.R118C NM_177968.2 NP_808907.1 O75688 PPM1B_HUMAN protein phosphatase, Mg2+/Mn2+ dependent, 1B 118 protein dephosphorylation protein serine/threonine phosphatase complex magnesium ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity kidney(4)|large_intestine(3)|lung(7)|skin(2) 16 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) TGAATACATGCGTAACTTTTC 0.403000 20 79 0 0 1 0 0 MC1R 4157 broad.mit.edu 37 16 89986228 89986228 + Missense_Mutation SNP G G A TCGA-T3-A92N-01A-11D-A391-08 TCGA-T3-A92N-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40005278-5569-44a5-94a2-9311946aa7ca 8e5216b7-93fa-440f-bf1a-c304f42b98da g.chr16:89986228G>A ENST00000555427.1 + 3 2865 c.562G>A c.(562-564)Gtc>Atc p.V188I MC1R_ENST00000555147.1_Missense_Mutation_p.V188I|TUBB3_ENST00000556922.1_Missense_Mutation_p.V188I melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor) endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1) 11 all_cancers(9;1.69e-11)|Lung NSC(15;8.94e-06)|all_lung(18;1.39e-05)|all_neural(9;0.00581)|all_hematologic(23;0.0194) BRCA - Breast invasive adenocarcinoma(80;0.0273) CCACGTGGCCGTCCTGCTGTG 0.667000 Melanoma, Familial Clustering of 12 43 0 0 1 0 0 THAP3 90326 broad.mit.edu 37 1 6688643 6688643 + Silent SNP C C T TCGA-T3-A92N-01A-11D-A391-08 TCGA-T3-A92N-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40005278-5569-44a5-94a2-9311946aa7ca 8e5216b7-93fa-440f-bf1a-c304f42b98da g.chr1:6688643C>T ENST00000377627.3 + 2 186 c.159C>T c.(157-159)gtC>gtT p.V53V THAP3_ENST00000054650.4_Silent_p.V53V|THAP3_ENST00000307896.6_Silent_p.V53V NM_138350.3 NP_612359.2 Q8WTV1 THAP3_HUMAN THAP domain containing, apoptosis associated protein 3 53 DNA binding|metal ion binding breast(1)|cervix(1)|large_intestine(1)|prostate(1) 4 Ovarian(185;0.0212)|all_lung(157;0.154) all_cancers(23;7.39e-28)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156) Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642) AGCACACGGTCATCTGCTCCG 0.602000 21 58 0 0 1 0 0 UGGT2 55757 broad.mit.edu 37 13 96705555 96705555 + Silent SNP C C T TCGA-T3-A92N-01A-11D-A391-08 TCGA-T3-A92N-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40005278-5569-44a5-94a2-9311946aa7ca 8e5216b7-93fa-440f-bf1a-c304f42b98da g.chr13:96705555C>T ENST00000376747.3 - 1 82 c.12G>A c.(10-12)gcG>gcA p.A4A UGGT2_ENST00000397618.3_Silent_p.A4A|UGGT2_ENST00000376714.3_Silent_p.A4A|UGGT2_ENST00000376712.4_Silent_p.A4A NM_020121.3 NP_064506.3 Q9NYU1 UGGG2_HUMAN UDP-glucose glycoprotein glucosyltransferase 2 4 post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine endoplasmic reticulum lumen|ER-Golgi intermediate compartment UDP-glucose:glycoprotein glucosyltransferase activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2) 60 TCGTGGCTTTCGCTGGCGCCA 0.692000 5 14 0 0 1 0 0 ZNF43 7594 broad.mit.edu 37 19 21992396 21992396 + Missense_Mutation SNP A A G TCGA-T3-A92N-01A-11D-A391-08 TCGA-T3-A92N-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40005278-5569-44a5-94a2-9311946aa7ca 8e5216b7-93fa-440f-bf1a-c304f42b98da g.chr19:21992396A>G ENST00000594012.1 - 7 939 c.425T>C c.(424-426)tTt>tCt p.F142S ZNF43_ENST00000354959.4_Missense_Mutation_p.F148S|ZNF43_ENST00000598381.1_Missense_Mutation_p.F142S|ZNF43_ENST00000595461.1_Missense_Mutation_p.F142S NM_001256649.1|NM_001256651.1|NM_001256653.1|NM_001256654.1 NP_001243578.1|NP_001243580.1|NP_001243582.1|NP_001243583.1 P17038 ZNF43_HUMAN zinc finger protein 43 148 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2) 51 Renal(1328;0.000219)|Hepatocellular(1079;0.121) GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127) ACATTTATCAAATAGAAATAT 0.323000 21 30 0 0 1 0 0 YLPM1 56252 broad.mit.edu 37 14 75230901 75230901 + Nonsense_Mutation SNP C C T TCGA-T3-A92N-01A-11D-A391-08 TCGA-T3-A92N-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40005278-5569-44a5-94a2-9311946aa7ca 8e5216b7-93fa-440f-bf1a-c304f42b98da g.chr14:75230901C>T ENST00000325680.7 + 1 833 c.709C>T c.(709-711)Cag>Tag p.Q237* YLPM1_ENST00000552421.1_Nonsense_Mutation_p.Q237*|YLPM1_ENST00000238571.3_Nonsense_Mutation_p.Q237* NM_019589.2 NP_062535.2 P49750 YLPM1_HUMAN YLP motif containing 1 77 regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear speck breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 62 KIRC - Kidney renal clear cell carcinoma(43;0.238) BRCA - Breast invasive adenocarcinoma(234;0.00162) CCGCCCCTCCCAGGGCCATTC 0.562000 24 74 0 0 1 0 0 LRP5L 91355 broad.mit.edu 37 22 25771949 25771949 + Translation_Start_Site SNP G G A TCGA-T3-A92N-01A-11D-A391-08 TCGA-T3-A92N-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40005278-5569-44a5-94a2-9311946aa7ca 8e5216b7-93fa-440f-bf1a-c304f42b98da g.chr22:25771949G>A ENST00000444995.3 - 0 400 LRP5L_ENST00000402859.2_De_novo_Start_OutOfFrame A4QPB2 LRP5L_HUMAN low density lipoprotein receptor-related protein 5-like central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(2) 6 GAAGGGGTGCGTCAGGCTGCC 0.607000 11 9 0 0 1 0 0 MYO5C 55930 broad.mit.edu 37 15 52498061 52498061 + Missense_Mutation SNP A A C TCGA-T3-A92N-01A-11D-A391-08 TCGA-T3-A92N-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40005278-5569-44a5-94a2-9311946aa7ca 8e5216b7-93fa-440f-bf1a-c304f42b98da g.chr15:52498061A>C ENST00000261839.7 - 37 4650 c.4489T>G c.(4489-4491)Tat>Gat p.Y1497D RP11-430B1.2_ENST00000560518.1_lincRNA NM_018728.3 NP_061198.2 Q9NQX4 MYO5C_HUMAN myosin VC 1497 Dilute. myosin complex actin binding|ATP binding|calmodulin binding|motor activity breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 66 all cancers(107;0.0137) AATTGATGATATATTCGTATA 0.299000 24 61 0 0 1 0 0 TSHZ2 128553 broad.mit.edu 37 20 51871909 51871909 + Missense_Mutation SNP G G A TCGA-T3-A92N-01A-11D-A391-08 TCGA-T3-A92N-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40005278-5569-44a5-94a2-9311946aa7ca 8e5216b7-93fa-440f-bf1a-c304f42b98da g.chr20:51871909G>A ENST00000371497.5 + 2 2799 c.1912G>A c.(1912-1914)Gaa>Aaa p.E638K TSHZ2_ENST00000603338.2_Missense_Mutation_p.E635K|TSHZ2_ENST00000329613.6_Missense_Mutation_p.E635K NM_001193421.1|NM_173485.5 NP_001180350.1|NP_775756.3 Q9NRE2 TSH2_HUMAN teashirt zinc finger homeobox 2 638 multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 84 STAD - Stomach adenocarcinoma(23;0.1) CCGCAAAAGTGAAACACCTCC 0.537000 24 71 0 0 1 0 0 MAGEB6 158809 broad.mit.edu 37 X 26212812 26212812 + Silent SNP G G A TCGA-T3-A92N-01A-11D-A391-08 TCGA-T3-A92N-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40005278-5569-44a5-94a2-9311946aa7ca 8e5216b7-93fa-440f-bf1a-c304f42b98da g.chrX:26212812G>A ENST00000379034.1 + 2 998 c.849G>A c.(847-849)ccG>ccA p.P283P NM_173523.2 NP_775794.2 Q8N7X4 MAGB6_HUMAN melanoma antigen family B, 6 283 MAGE. breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2) 33 ATGCGCTGCCGAAGTCGGGTC 0.527000 57 20 0 0 1 0 0 PRKAR1A 5573 broad.mit.edu 37 17 66526546 66526546 + Nonsense_Mutation SNP C C T TCGA-T3-A92N-01A-11D-A391-08 TCGA-T3-A92N-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40005278-5569-44a5-94a2-9311946aa7ca 8e5216b7-93fa-440f-bf1a-c304f42b98da g.chr17:66526546C>T ENST00000589228.1 + 11 1230 c.1102C>T c.(1102-1104)Cga>Tga p.R368* PRKAR1A_ENST00000392711.1_Nonsense_Mutation_p.R368*|PRKAR1A_ENST00000588188.2_Intron|PRKAR1A_ENST00000586397.1_Nonsense_Mutation_p.R368*|PRKAR1A_ENST00000358598.2_Nonsense_Mutation_p.R368*|PRKAR1A_ENST00000536854.2_Nonsense_Mutation_p.R368* NM_001276289.1|NM_001278433.1 NP_001263218.1|NP_001265362.1 P10644 KAP0_HUMAN protein kinase, cAMP-dependent, regulatory, type I, alpha 368 activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|intracellular signal transduction|nerve growth factor receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter|transmembrane transport|water transport cAMP-dependent protein kinase complex|cytosol cAMP binding|cAMP-dependent protein kinase regulator activity|protein binding adrenal_gland(4)|breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(8)|soft_tissue(2)|stomach(2)|testis(1)|thyroid(2)|upper_aerodigestive_tract(1) 31 Breast(10;1.64e-13) CATCCTCAAACGAAACATCCA 0.512000 """T, Mis, N, F, S""" RET papillary thyroid """myxoma, endocrine, papillary thyroid""" Primary Pigmented Nodular Adrenocortical Disease, Familial;Carney Complex;Cardiac Myxomas, Familial Clustering of 21 82 0 0 1 0 0 CCSER2 54462 broad.mit.edu 37 10 86132166 86132166 + Missense_Mutation SNP C C T TCGA-T3-A92N-01A-11D-A391-08 TCGA-T3-A92N-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40005278-5569-44a5-94a2-9311946aa7ca 8e5216b7-93fa-440f-bf1a-c304f42b98da g.chr10:86132166C>T ENST00000224756.8 + 2 1543 c.1358C>T c.(1357-1359)cCc>cTc p.P453L CCSER2_ENST00000372088.2_Missense_Mutation_p.P453L|CCSER2_ENST00000359979.4_Missense_Mutation_p.P453L NM_018999.2 NP_061872.2 coiled-coil serine-rich protein 2 TTTGATTCCCCCAAGGAAAAT 0.343000 26 83 0 0 1 0 0 MT-ND5 4540 broad.mit.edu 37 MT 13288 13288 + Missense_Mutation SNP G G A TCGA-T3-A92N-01A-11D-A391-08 TCGA-T3-A92N-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40005278-5569-44a5-94a2-9311946aa7ca 8e5216b7-93fa-440f-bf1a-c304f42b98da g.chrM:13288G>A ENST00000361567.2 + 1 952 c.952G>A c.(952-954)Ggc>Agc p.G318S P03915 NU5M_HUMAN mitochondrially encoded NADH dehydrogenase 5 318 mitochondrial electron transport, NADH to ubiquinone|transport integral to membrane|mitochondrial respiratory chain complex I NADH dehydrogenase (ubiquinone) activity breast(4)|endometrium(29)|kidney(33)|pancreas(1)|prostate(7) 74 NADH(DB00157) TAGTTACAATCGGCATCAACC 0.458000 5 11 0 0 1 0 0 LTA4H 4048 broad.mit.edu 37 12 96429180 96429180 + Missense_Mutation SNP C C T TCGA-T3-A92N-01A-11D-A391-08 TCGA-T3-A92N-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40005278-5569-44a5-94a2-9311946aa7ca 8e5216b7-93fa-440f-bf1a-c304f42b98da g.chr12:96429180C>T ENST00000228740.2 - 1 259 c.118G>A c.(118-120)Gct>Act p.A40T LTA4H_ENST00000413268.2_Intron|LTA4H_ENST00000552789.1_Intron NM_000895.2 NP_000886.1 P09960 LKHA4_HUMAN leukotriene A4 hydrolase 40 hormone biosynthetic process|inflammatory response|leukotriene biosynthetic process|peptide catabolic process|prostanoid metabolic process|proteolysis cytosol|nucleus aminopeptidase activity|epoxide hydrolase activity|leukotriene-A4 hydrolase activity|metallopeptidase activity|protein binding|zinc ion binding haematopoietic_and_lymphoid_tissue(2)|kidney(3)|lung(4)|skin(2)|stomach(1) 12 ACCGTGAGAGCAGCAGTCCCG 0.672000 9 9 0 0 1 0 0 ETV1 2115 broad.mit.edu 37 7 14026302 14026302 + Nonsense_Mutation SNP G G A TCGA-T3-A92N-01A-11D-A391-08 TCGA-T3-A92N-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40005278-5569-44a5-94a2-9311946aa7ca 8e5216b7-93fa-440f-bf1a-c304f42b98da g.chr7:14026302G>A ENST00000343495.5 - 5 880 c.142C>T c.(142-144)Caa>Taa p.Q48* ETV1_ENST00000405218.2_Nonsense_Mutation_p.Q48*|ETV1_ENST00000405358.4_Nonsense_Mutation_p.Q62*|ETV1_ENST00000405192.2_Nonsense_Mutation_p.Q48*|ETV1_ENST00000403685.1_Nonsense_Mutation_p.Q48*|ETV1_ENST00000430479.1_Nonsense_Mutation_p.Q48*|ETV1_ENST00000242066.5_Nonsense_Mutation_p.Q48* P50549 ETV1_HUMAN ets variant 1 48 transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity TMPRSS2/ETV1(34)|ACSL3_ENST00000357430/ETV1(2)|EWSR1/ETV1(7)|KLK2/ETV1(3)|SLC45A3/ETV1(3)|HNRNPA2B1/ETV1(8) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 31 CTTAGATCTTGAAAGAGTTCT 0.303000 T """EWSR1, TMPRSS2, SLC45A3, C15orf21, HNRNPA2B1. ACSL3""" """Ewing sarcoma, prostate""" 7 39 0 0 1 0 0 NOTCH3 4854 broad.mit.edu 37 19 15288454 15288454 + Missense_Mutation SNP C C G TCGA-T3-A92N-01A-11D-A391-08 TCGA-T3-A92N-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40005278-5569-44a5-94a2-9311946aa7ca 8e5216b7-93fa-440f-bf1a-c304f42b98da g.chr19:15288454C>G ENST00000263388.2 - 24 4360 c.4285G>C c.(4285-4287)Gag>Cag p.E1429Q NM_000435.2 NP_000426.2 Q9UM47 NOTC3_HUMAN notch 3 1429 Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 93 OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15) TGCAGCGCCTCGCATTGCCGC 0.726000 3 7 0 0 1 0 0 ARID5A 10865 broad.mit.edu 37 2 97217910 97217910 + Missense_Mutation SNP G G A TCGA-T3-A92N-01A-11D-A391-08 TCGA-T3-A92N-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40005278-5569-44a5-94a2-9311946aa7ca 8e5216b7-93fa-440f-bf1a-c304f42b98da g.chr2:97217910G>A ENST00000454558.2 + 7 2618 c.1441G>A c.(1441-1443)Gct>Act p.A481T ARID5A_ENST00000357485.3_Missense_Mutation_p.A549T Q03989 ARI5A_HUMAN AT rich interactive domain 5A (MRF1-like) 549 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus DNA binding endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|skin(1)|urinary_tract(2) 14 GCCCATGGCCGCTGGCCTGAT 0.687000 48 136 0 0 1 0 0 NFE2L3 9603 broad.mit.edu 37 7 26224633 26224633 + Missense_Mutation SNP C C G TCGA-T3-A92N-01A-11D-A391-08 TCGA-T3-A92N-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40005278-5569-44a5-94a2-9311946aa7ca 8e5216b7-93fa-440f-bf1a-c304f42b98da g.chr7:26224633C>G ENST00000056233.3 + 4 1574 c.1315C>G c.(1315-1317)Cac>Gac p.H439D NM_004289.6 NP_004280.5 Q9Y4A8 NF2L3_HUMAN nuclear factor, erythroid 2-like 3 439 transcription from RNA polymerase II promoter nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(5)|urinary_tract(7) 29 TAATTCCTCTCACTCTGTGTG 0.413000 68 104 0 0 1 0 0 NPHP4 261734 broad.mit.edu 37 1 5933374 5933374 + Missense_Mutation SNP C C T TCGA-T3-A92N-01A-11D-A391-08 TCGA-T3-A92N-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40005278-5569-44a5-94a2-9311946aa7ca 8e5216b7-93fa-440f-bf1a-c304f42b98da g.chr1:5933374C>T ENST00000378156.4 - 23 3518 c.3253G>A c.(3253-3255)Gag>Aag p.E1085K NPHP4_ENST00000478423.2_5'UTR NM_015102.3 NP_055917.1 O75161 NPHP4_HUMAN nephronophthisis 4 1085 actin cytoskeleton organization|cell-cell adhesion|signal transduction|visual behavior cell-cell junction|centrosome|cilium|microtubule basal body protein binding|structural molecule activity NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4) 47 Ovarian(185;0.0634) all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213) Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649) ATGCCCTTCTCGTTGCTCAAC 0.577000 26 61 0 0 1 0 0 NPR3 4883 broad.mit.edu 37 5 32712623 32712623 + Silent SNP C C T TCGA-T3-A92N-01A-11D-A391-08 TCGA-T3-A92N-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40005278-5569-44a5-94a2-9311946aa7ca 8e5216b7-93fa-440f-bf1a-c304f42b98da g.chr5:32712623C>T ENST00000265074.8 + 1 1084 c.741C>T c.(739-741)atC>atT p.I247I NPR3_ENST00000415167.2_Silent_p.I247I|NPR3_ENST00000434067.2_Intron|NPR3_ENST00000415685.2_Intron NM_000908.3|NM_001204375.1 NP_000899.1|NP_001191304.1 P17342 ANPRC_HUMAN natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C) 247 osteoclast proliferation|positive regulation of urine volume|regulation of blood pressure|regulation of osteoblast proliferation|skeletal system development integral to membrane hormone binding|natriuretic peptide receptor activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 24 Nesiritide(DB04899) TGGAAGACATCGTGCGCAATA 0.622000 60 70 0 0 1 0 0 PPFIA3 8541 broad.mit.edu 37 19 49639162 49639162 + Silent SNP C C T TCGA-T3-A92N-01A-11D-A391-08 TCGA-T3-A92N-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40005278-5569-44a5-94a2-9311946aa7ca 8e5216b7-93fa-440f-bf1a-c304f42b98da g.chr19:49639162C>T ENST00000334186.4 + 14 1996 c.1647C>T c.(1645-1647)gtC>gtT p.V549V PPFIA3_ENST00000602351.1_Silent_p.V549V NM_003660.2 NP_003651.1 O75145 LIPA3_HUMAN protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3 549 cell surface|cytoplasm protein binding NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(16)|pancreas(1)|prostate(1)|skin(4)|urinary_tract(1) 35 all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392) all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677) GGTCAGGGGTCAAGGAGGAGC 0.627000 8 19 0 0 1 0 0 PCDH20 64881 broad.mit.edu 37 13 61987898 61987898 + Missense_Mutation SNP C C T TCGA-T3-A92N-01A-11D-A391-08 TCGA-T3-A92N-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40005278-5569-44a5-94a2-9311946aa7ca 8e5216b7-93fa-440f-bf1a-c304f42b98da g.chr13:61987898C>T ENST00000409186.1 - 5 2439 c.334G>A c.(334-336)Gag>Aag p.E112K PCDH20_ENST00000409204.4_Missense_Mutation_p.E112K Q8N6Y1 PCD20_HUMAN protocadherin 20 85 Cadherin 1. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 58 Breast(118;0.195)|Prostate(109;0.229) GBM - Glioblastoma multiforme(99;0.000118) GGGTTCCACTCAGCACCGGTG 0.687000 4 24 0 0 1 0 0 OR2L2 26246 broad.mit.edu 37 1 248201645 248201645 + Missense_Mutation SNP G G A TCGA-T3-A92N-01A-11D-A391-08 TCGA-T3-A92N-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40005278-5569-44a5-94a2-9311946aa7ca 8e5216b7-93fa-440f-bf1a-c304f42b98da g.chr1:248201645G>A ENST00000366479.2 + 1 172 c.76G>A c.(76-78)Gta>Ata p.V26I OR2L13_ENST00000366478.2_Intron NM_001004686.2 NP_001004686.1 Q8NH16 OR2L2_HUMAN olfactory receptor, family 2, subfamily L, member 2 26 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.V26L(1) NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1) 42 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0278) TGGCCTTTTCGTATTCACCCT 0.378000 21 122 0 0 1 0 0 METTL8 79828 broad.mit.edu 37 2 172187192 172187192 + Missense_Mutation SNP C C T TCGA-T3-A92N-01A-11D-A391-08 TCGA-T3-A92N-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40005278-5569-44a5-94a2-9311946aa7ca 8e5216b7-93fa-440f-bf1a-c304f42b98da g.chr2:172187192C>T ENST00000375258.3 - 7 952 c.737G>A c.(736-738)aGa>aAa p.R246K B3KW44 B3KW44_HUMAN methyltransferase like 8 246 methyltransferase activity breast(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1) 11 CTGGGTTGCTCTGTAGGACGA 0.388000 25 21 0 0 1 0 0 WWP2 11060 broad.mit.edu 37 16 69874115 69874115 + Missense_Mutation SNP G G C TCGA-T3-A92N-01A-11D-A391-08 TCGA-T3-A92N-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40005278-5569-44a5-94a2-9311946aa7ca 8e5216b7-93fa-440f-bf1a-c304f42b98da g.chr16:69874115G>C ENST00000359154.2 + 5 528 c.427G>C c.(427-429)Ggg>Cgg p.G143R WWP2_ENST00000544162.1_3'UTR|WWP2_ENST00000542271.1_Missense_Mutation_p.G27R|WWP2_ENST00000356003.2_Missense_Mutation_p.G143R|WWP2_ENST00000448661.1_Missense_Mutation_p.G143R|WWP2_ENST00000569174.1_Missense_Mutation_p.G143R NM_001270454.1|NM_007014.4 NP_001257383.1|NP_008945.2 O00308 WWP2_HUMAN WW domain containing E3 ubiquitin protein ligase 2 143 entry of virus into host cell|negative regulation of protein transport|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transporter activity|proteasomal ubiquitin-dependent protein catabolic process|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus|ubiquitin ligase complex RNA polymerase II transcription factor binding|ubiquitin-protein ligase activity p.G143R(1) breast(4)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 TTTCCTGGACGGGCCAACTGT 0.582000 24 82 0 0 1 0 0 NCOA2 10499 broad.mit.edu 37 8 71068871 71068871 + Missense_Mutation SNP T T A TCGA-T3-A92N-01A-11D-A391-08 TCGA-T3-A92N-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40005278-5569-44a5-94a2-9311946aa7ca 8e5216b7-93fa-440f-bf1a-c304f42b98da g.chr8:71068871T>A ENST00000452400.2 - 11 1910 c.1729A>T c.(1729-1731)Atg>Ttg p.M577L NCOA2_ENST00000524223.1_5'UTR NM_006540.2 NP_006531.1 Q15596 NCOA2_HUMAN nuclear receptor coactivator 2 577 cellular lipid metabolic process|transcription, DNA-dependent nucleoplasm histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity PAX3/NCOA2(4)|HEY1/NCOA2(10) NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4) 60 Breast(64;0.201) Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606) AAGCTTCCCATCTTGCTGAGT 0.493000 T """RUNXBP2, HEY1""" """AML, Chondrosarcoma""" 32 147 0 0 1 0 0 SYT1 6857 broad.mit.edu 37 12 79693186 79693186 + Missense_Mutation SNP G G A TCGA-T3-A92N-01A-11D-A391-08 TCGA-T3-A92N-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40005278-5569-44a5-94a2-9311946aa7ca 8e5216b7-93fa-440f-bf1a-c304f42b98da g.chr12:79693186G>A ENST00000261205.4 + 8 1322 c.665G>A c.(664-666)gGc>gAc p.G222D SYT1_ENST00000393240.3_Missense_Mutation_p.G222D|SYT1_ENST00000552744.1_Missense_Mutation_p.G222D|SYT1_ENST00000457153.2_Missense_Mutation_p.G219D NM_005639.2 NP_005630.1 P21579 SYT1_HUMAN synaptotagmin I 222 C2 1.|Phospholipid binding (Probable). detection of calcium ion|glutamate secretion|neurotransmitter secretion|protein homooligomerization cell junction|chromaffin granule membrane|clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane 1-phosphatidylinositol binding|low-density lipoprotein particle receptor binding|metal ion binding|syntaxin-1 binding|transporter activity NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|pancreas(2)|skin(6) 25 GAATTGGGTGGCAAAACCCTA 0.358000 4 148 0 0 1 0 0 C2orf82 389084 broad.mit.edu 37 2 233740979 233740979 + Missense_Mutation SNP C C G TCGA-T3-A92N-01A-11D-A391-08 TCGA-T3-A92N-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40005278-5569-44a5-94a2-9311946aa7ca 8e5216b7-93fa-440f-bf1a-c304f42b98da g.chr2:233740979C>G ENST00000409230.1 + 4 526 c.279C>G c.(277-279)atC>atG p.I93M C2orf82_ENST00000409533.1_Missense_Mutation_p.I93M|C2orf82_ENST00000331342.2_Missense_Mutation_p.I93M Q6UX34 CB082_HUMAN chromosome 2 open reading frame 82 93 integral to membrane CCGGCGCTATCGCGGCCATCG 0.716000 5 2 0 0 1 0 0 DGCR5 26220 broad.mit.edu 37 22 18979485 18979485 + RNA SNP A A G TCGA-T3-A92N-01A-11D-A391-08 TCGA-T3-A92N-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40005278-5569-44a5-94a2-9311946aa7ca 8e5216b7-93fa-440f-bf1a-c304f42b98da g.chr22:18979485A>G ENST00000438934.1 + 0 2836 DGCR5_ENST00000440005.2_RNA GTGTTCTGGAACCATTCCCTG 0.587000 9 16 0 0 1 0 0 CROCCP2 84809 broad.mit.edu 37 1 16946396 16946396 + RNA SNP C C T rs367013 byFrequency TCGA-T3-A92N-01A-11D-A391-08 TCGA-T3-A92N-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40005278-5569-44a5-94a2-9311946aa7ca 8e5216b7-93fa-440f-bf1a-c304f42b98da g.chr1:16946396C>T ENST00000412962.1 - 0 1123 TGCTGCAGGGCAGCAATCTCC 0.667000 11 30 0 0 1 0 0 TTF1 7270 broad.mit.edu 37 9 135251515 135251515 + Silent SNP C C T TCGA-T3-A92N-01A-11D-A391-08 TCGA-T3-A92N-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40005278-5569-44a5-94a2-9311946aa7ca 8e5216b7-93fa-440f-bf1a-c304f42b98da g.chr9:135251515C>T ENST00000334270.2 - 11 2544 c.2505G>A c.(2503-2505)ctG>ctA p.L835L TTF1_ENST00000461970.1_5'UTR NM_001205296.1|NM_007344.3 NP_001192225.1|NP_031370.2 Q15361 TTF1_HUMAN transcription termination factor, RNA polymerase I 835 negative regulation of DNA replication|regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription nucleolus|nucleoplasm DNA binding endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05) ACTTTTCCTTCAGCAAAGGTA 0.383000 40 73 0 0 1 0 0 DAGLA 747 broad.mit.edu 37 11 61495637 61495637 + Missense_Mutation SNP G G A TCGA-T3-A92N-01A-11D-A391-08 TCGA-T3-A92N-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40005278-5569-44a5-94a2-9311946aa7ca 8e5216b7-93fa-440f-bf1a-c304f42b98da g.chr11:61495637G>A ENST00000257215.5 + 7 765 c.649G>A c.(649-651)Gaa>Aaa p.E217K NM_006133.2 NP_006124.1 Q9Y4D2 DGLA_HUMAN diacylglycerol lipase, alpha 217 cell death|lipid catabolic process|platelet activation integral to membrane|plasma membrane acylglycerol lipase activity|metal ion binding|triglyceride lipase activity breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4) 43 READ - Rectum adenocarcinoma(4;0.219) TGCCTACTCAGAAATCGCCTA 0.622000 29 52 0 0 1 0 0 COL25A1 84570 broad.mit.edu 37 4 110221803 110221803 + Silent SNP G G T TCGA-T3-A92N-01A-11D-A391-08 TCGA-T3-A92N-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40005278-5569-44a5-94a2-9311946aa7ca 8e5216b7-93fa-440f-bf1a-c304f42b98da g.chr4:110221803G>T ENST00000399132.1 - 3 833 c.303C>A c.(301-303)tcC>tcA p.S101S COL25A1_ENST00000399126.1_Silent_p.S101S|COL25A1_ENST00000399127.1_Silent_p.S101S NM_198721.2 NP_942014.1 Q9BXS0 COPA1_HUMAN collagen, type XXV, alpha 1 101 collagen|extracellular space beta-amyloid binding|heparin binding NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 49 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.000173) TATGTTCATAGGATTTCTGTA 0.403000 13 18 4.3838e-07 4.53695e-07 1 1 0 IVL 3713 broad.mit.edu 37 1 152883971 152883971 + Silent SNP G G A TCGA-T3-A92N-01A-11D-A391-08 TCGA-T3-A92N-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40005278-5569-44a5-94a2-9311946aa7ca 8e5216b7-93fa-440f-bf1a-c304f42b98da g.chr1:152883971G>A ENST00000368764.3 + 2 1762 c.1698G>A c.(1696-1698)ttG>ttA p.L566L IVL_ENST00000392667.2_Silent_p.L420L P07476 INVO_HUMAN involucrin 566 isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine|keratinization|response to UV-B cornified envelope|cytoplasm protein binding, bridging|structural molecule activity breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1) 29 Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.171) GAGAAGTATTGCTTCCTGTAG 0.572000 10 74 0 0 1 0 0 RASA1 5921 broad.mit.edu 37 5 86633825 86633825 + Nonsense_Mutation SNP G G T TCGA-T3-A92N-01A-11D-A391-08 TCGA-T3-A92N-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40005278-5569-44a5-94a2-9311946aa7ca 8e5216b7-93fa-440f-bf1a-c304f42b98da g.chr5:86633825G>T ENST00000456692.2 + 5 518 c.403G>T c.(403-405)Gaa>Taa p.E135* RASA1_ENST00000512763.1_Nonsense_Mutation_p.E145*|RASA1_ENST00000506290.1_Nonsense_Mutation_p.E146*|RASA1_ENST00000274376.6_Nonsense_Mutation_p.E312* NM_022650.2 NP_072179.1 P20936 RASA1_HUMAN RAS p21 protein activator (GTPase activating protein) 1 312 Poly-Pro. cytokinesis|embryo development|intracellular signal transduction|negative regulation of cell-matrix adhesion|negative regulation of neuron apoptosis|negative regulation of Ras protein signal transduction|positive regulation of anti-apoptosis|regulation of actin filament polymerization|regulation of cell shape|regulation of RNA metabolic process|vasculogenesis cytosol|intrinsic to internal side of plasma membrane glycoprotein binding|GTPase binding|potassium channel inhibitor activity|Ras GTPase activator activity|receptor binding NS(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(12)|lung(13)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 48 all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423) OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31) TGTTCATAATGAATTAGAAGA 0.274000 19 43 7.07596e-05 7.25975e-05 1 1 0 CACNA1H 8912 broad.mit.edu 37 16 1250562 1250562 + Silent SNP C C T TCGA-T3-A92N-01A-11D-A391-08 TCGA-T3-A92N-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40005278-5569-44a5-94a2-9311946aa7ca 8e5216b7-93fa-440f-bf1a-c304f42b98da g.chr16:1250562C>T ENST00000348261.5 + 7 1358 c.1110C>T c.(1108-1110)gcC>gcT p.A370A CACNA1H_ENST00000358590.4_Silent_p.A370A|CACNA1H_ENST00000565831.1_Silent_p.A370A NM_021098.2 NP_066921.2 O95180 CAC1H_HUMAN calcium channel, voltage-dependent, T type, alpha 1H subunit 370 aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction voltage-gated calcium channel complex low voltage-gated calcium channel activity breast(4)|endometrium(5)|kidney(2)|lung(23) 34 Hepatocellular(780;0.00369) Flunarizine(DB04841)|Mibefradil(DB01388) CCTGGATTGCCATCTTCCAGG 0.657000 11 49 0 0 1 0 0 SIX1 6495 broad.mit.edu 37 14 61115425 61115425 + Silent SNP G G A TCGA-T3-A92N-01A-11D-A391-08 TCGA-T3-A92N-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40005278-5569-44a5-94a2-9311946aa7ca 8e5216b7-93fa-440f-bf1a-c304f42b98da g.chr14:61115425G>A ENST00000247182.6 - 1 755 c.483C>T c.(481-483)acC>acT p.T161T SIX1_ENST00000554986.1_Intron NM_005982.3 NP_005973.1 Q15475 SIX1_HUMAN SIX homeobox 1 161 branching involved in ureteric bud morphogenesis|embryonic cranial skeleton morphogenesis|epithelial cell differentiation|inner ear morphogenesis|mesonephric tubule formation|metanephric mesenchyme development|myoblast migration|negative regulation of neuron apoptosis|organ induction|pattern specification process|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of ureteric bud formation|protein localization to nucleus|regulation of branch elongation involved in ureteric bud branching|regulation of neuron differentiation|skeletal muscle tissue development|thymus development|thyroid gland development nucleolus|transcription factor complex protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding breast(2)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1) 13 OV - Ovarian serous cystadenocarcinoma(108;0.0201) TGGTGAGGCCGGTGGCCTCGG 0.652000 34 40 0 0 1 0 0 DNAH17 8632 broad.mit.edu 37 17 76455961 76455961 + Silent SNP C C T TCGA-T3-A92N-01A-11D-A391-08 TCGA-T3-A92N-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40005278-5569-44a5-94a2-9311946aa7ca 8e5216b7-93fa-440f-bf1a-c304f42b98da g.chr17:76455961C>T ENST00000389840.5 - 60 9640 c.9516G>A c.(9514-9516)gcG>gcA p.A3172A DNAH17_ENST00000586052.1_5'UTR|DNAH17_ENST00000585328.1_Silent_p.A3181A dynein, axonemal, heavy chain 17 NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 116 BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656) TGATCTTGGCCGCCTTCCAGC 0.597000 49 35 0 0 1 0 0 NAA35 60560 broad.mit.edu 37 9 88636841 88636841 + Missense_Mutation SNP C C T TCGA-T3-A92N-01A-11D-A391-08 TCGA-T3-A92N-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40005278-5569-44a5-94a2-9311946aa7ca 8e5216b7-93fa-440f-bf1a-c304f42b98da g.chr9:88636841C>T ENST00000361671.5 + 23 2277 c.2144C>T c.(2143-2145)gCt>gTt p.A715V NM_024635.3 NP_078911.3 Q5VZE5 NAA35_HUMAN N(alpha)-acetyltransferase 35, NatC auxiliary subunit 715 smooth muscle cell proliferation cytoplasm|nucleus|plasma membrane central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(9)|ovary(2)|skin(2)|urinary_tract(1) 25 GATTTCTCTGCTCATAAATAT 0.373000 16 44 0 0 1 0 0 GATA1 2623 broad.mit.edu 37 X 48651673 48651673 + Missense_Mutation SNP A A C TCGA-T3-A92N-01A-11D-A391-08 TCGA-T3-A92N-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40005278-5569-44a5-94a2-9311946aa7ca 8e5216b7-93fa-440f-bf1a-c304f42b98da g.chrX:48651673A>C ENST00000376670.3 + 5 950 c.839A>C c.(838-840)aAt>aCt p.N280T GATA1_ENST00000376665.3_Missense_Mutation_p.N280T NM_002049.3 NP_002040.1 P15976 GATA1_HUMAN GATA binding protein 1 (globin transcription factor 1) 280 basophil differentiation|eosinophil differentiation|erythrocyte development|megakaryocyte differentiation|platelet aggregation|platelet formation|positive regulation of anti-apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|regulation of glycoprotein biosynthetic process|transcription from RNA polymerase II promoter nuclear membrane|nucleolus|nucleoplasm C2H2 zinc finger domain binding|RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(259)|large_intestine(8)|lung(9)|prostate(1) 283 CCCGTGTGCAATGCCTGCGGC 0.602000 """Mis, F""" megakaryoblastic leukemia of Downs Syndrome 27 11 0 0 1 0 0 C17orf102 400591 broad.mit.edu 37 17 32906293 32906293 + Missense_Mutation SNP C C G TCGA-T3-A92N-01A-11D-A391-08 TCGA-T3-A92N-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40005278-5569-44a5-94a2-9311946aa7ca 8e5216b7-93fa-440f-bf1a-c304f42b98da g.chr17:32906293C>G ENST00000357754.1 - 1 95 c.7G>C c.(7-9)Gat>Cat p.D3H NM_207454.2 NP_997337.2 A2RUQ5 CQ102_HUMAN chromosome 17 open reading frame 102 3 central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(3)|ovary(1) 9 AAGGAAAAATCAAACATAAAA 0.642000 5 8 0 0 1 0 0 EP400 57634 broad.mit.edu 37 12 132547087 132547087 + Silent SNP G G A rs12366766 TCGA-T3-A92N-01A-11D-A391-08 TCGA-T3-A92N-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40005278-5569-44a5-94a2-9311946aa7ca 8e5216b7-93fa-440f-bf1a-c304f42b98da g.chr12:132547087G>A ENST00000333577.4 + 48 8392 c.8283G>A c.(8281-8283)caG>caA p.Q2761Q EP400_ENST00000389561.2_Silent_p.Q2725Q|EP400_ENST00000332482.4_Silent_p.Q2688Q|EP400_ENST00000330386.6_Silent_p.Q2644Q|EP400_ENST00000389562.2_Silent_p.Q2724Q Q96L91 EP400_HUMAN E1A binding protein p400 2761 Interaction with ZNF42 (By similarity).|Poly-Gln. histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity p.Q2724Q(16)|p.Q2725Q(1) NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 161 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) agcagcagcagcaacaacagc 0.562000 4 77 0 0 1 0 0 DCTN2 10540 broad.mit.edu 37 12 57939816 57939816 + Missense_Mutation SNP C C T TCGA-T3-A92N-01A-11D-A391-08 TCGA-T3-A92N-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40005278-5569-44a5-94a2-9311946aa7ca 8e5216b7-93fa-440f-bf1a-c304f42b98da g.chr12:57939816C>T ENST00000548249.1 - 2 367 c.100G>A c.(100-102)Gat>Aat p.D34N DCTN2_ENST00000543672.1_Missense_Mutation_p.D34N|DCTN2_ENST00000434715.3_Missense_Mutation_p.D34N NM_001261412.1|NM_001261413.1 NP_001248341.1|NP_001248342.1 Q13561 DCTN2_HUMAN dynactin 2 (p50) 34 cell proliferation|G2/M transition of mitotic cell cycle|mitosis centrosome|cytosol|dynactin complex|dynein complex|kinetochore|membrane|microtubule|vesicle motor activity|protein binding endometrium(1)|large_intestine(4)|lung(2)|ovary(2)|upper_aerodigestive_tract(2) 11 CTTACCGCATCGAACTCCGCT 0.542000 5 106 0 0 1 0 0 MAST1 22983 broad.mit.edu 37 19 12978453 12978453 + Missense_Mutation SNP G G A TCGA-T3-A92N-01A-11D-A391-08 TCGA-T3-A92N-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40005278-5569-44a5-94a2-9311946aa7ca 8e5216b7-93fa-440f-bf1a-c304f42b98da g.chr19:12978453G>A ENST00000251472.4 + 19 2344 c.2305G>A c.(2305-2307)Ggc>Agc p.G769S NM_014975.2 NP_055790.1 Q9Y2H9 MAST1_HUMAN microtubule associated serine/threonine kinase 1 769 cytoskeleton organization|intracellular protein kinase cascade cytoplasm|cytoskeleton|plasma membrane ATP binding|magnesium ion binding|protein serine/threonine kinase activity NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3) 56 CTGGAGAGGGGGCTCTCCGGA 0.682000 9 8 0 0 1 0 0 BRCA2 675 broad.mit.edu 37 13 32945187 32945187 + Missense_Mutation SNP G G C TCGA-T3-A92N-01A-11D-A391-08 TCGA-T3-A92N-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40005278-5569-44a5-94a2-9311946aa7ca 8e5216b7-93fa-440f-bf1a-c304f42b98da g.chr13:32945187G>C ENST00000544455.1 + 20 8809 c.8582G>C c.(8581-8583)aGa>aCa p.R2861T BRCA2_ENST00000380152.3_Missense_Mutation_p.R2861T NM_000059.3 NP_000050.2 P51587 BRCA2_HUMAN breast cancer 2, early onset 2861 cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 183 Lung SC(185;0.0262) all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704) CAACAAAAGAGACTAGAAGCC 0.343000 """D, Mis, N, F, S""" """breast, ovarian, pancreatic""" """breast, ovarian, pancreatic, leukemia (FANCB, FANCD1)""" Homologous recombination Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia TCGA Ovarian(8;0.087) 18 59 0 0 1 0 0 HIST1H1B 3009 broad.mit.edu 37 6 27834714 27834714 + Silent SNP C C T TCGA-T3-A92N-01A-11D-A391-08 TCGA-T3-A92N-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40005278-5569-44a5-94a2-9311946aa7ca 8e5216b7-93fa-440f-bf1a-c304f42b98da g.chr6:27834714C>T ENST00000331442.3 - 1 645 c.594G>A c.(592-594)ccG>ccA p.P198P NM_005322.2 NP_005313.1 P16401 H15_HUMAN histone cluster 1, H1b 198 nucleosome assembly nucleosome|nucleus DNA binding p.P198P(1) endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(12)|prostate(2)|upper_aerodigestive_tract(2) 24 TTGCCGCCTTCGGCTTAACTG 0.557000 25 45 0 0 1 0 0 LINC00969 440993 broad.mit.edu 37 3 195400728 195400728 + RNA SNP A A G rs12107841 by1000genomes TCGA-T3-A92N-01A-11D-A391-08 TCGA-T3-A92N-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40005278-5569-44a5-94a2-9311946aa7ca 8e5216b7-93fa-440f-bf1a-c304f42b98da g.chr3:195400728A>G ENST00000445430.1 + 0 1324 GATTGTGCCCAGCCTGTACGC 0.587000 4 109 0 0 1 0 0 DNAH12 201625 broad.mit.edu 37 3 57493504 57493504 + Missense_Mutation SNP C C T TCGA-T3-A92N-01A-11D-A391-08 TCGA-T3-A92N-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40005278-5569-44a5-94a2-9311946aa7ca 8e5216b7-93fa-440f-bf1a-c304f42b98da g.chr3:57493504C>T ENST00000351747.2 - 8 943 c.763G>A c.(763-765)Gca>Aca p.A255T DNAH12_ENST00000389536.4_Missense_Mutation_p.A255T|DNAH12_ENST00000311202.6_Missense_Mutation_p.A255T NM_178504.4 NP_848599.3 Q6ZR08 DYH12_HUMAN dynein, axonemal, heavy chain 12 255 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|prostate(1)|skin(1) 25 TTCTCTTCTGCGTTTCTAGTT 0.333000 26 64 0 0 1 0 0 USP47 55031 broad.mit.edu 37 11 11926970 11926970 + Nonsense_Mutation SNP C C T TCGA-T3-A92N-01A-11D-A391-08 TCGA-T3-A92N-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40005278-5569-44a5-94a2-9311946aa7ca 8e5216b7-93fa-440f-bf1a-c304f42b98da g.chr11:11926970C>T ENST00000339865.5 + 7 1403 c.640C>T c.(640-642)Caa>Taa p.Q214* USP47_ENST00000539466.1_5'UTR|USP47_ENST00000399455.2_Nonsense_Mutation_p.Q302*|USP47_ENST00000527733.1_Nonsense_Mutation_p.Q282* NM_017944.3 NP_060414.3 Q96K76 UBP47_HUMAN ubiquitin specific peptidase 47 302 base-excision repair|cellular response to UV|monoubiquitinated protein deubiquitination|negative regulation of apoptosis|negative regulation of caspase activity|negative regulation of G2/M transition of mitotic cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of cell growth|response to drug|ubiquitin-dependent protein catabolic process cytoplasm|SCF ubiquitin ligase complex ubiquitin thiolesterase activity|ubiquitin-specific protease activity|WD40-repeat domain binding breast(4)|endometrium(7)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 46 Epithelial(150;0.000339) TGAGCTATATCAAGGCAAGCT 0.343000 17 18 0 0 1 0 0 POT1 25913 broad.mit.edu 37 7 124469392 124469392 + Missense_Mutation SNP T T C TCGA-T3-A92N-01A-11D-A391-08 TCGA-T3-A92N-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40005278-5569-44a5-94a2-9311946aa7ca 8e5216b7-93fa-440f-bf1a-c304f42b98da g.chr7:124469392T>C ENST00000357628.3 - 16 2108 c.1510A>G c.(1510-1512)Aaa>Gaa p.K504E POT1_ENST00000393329.1_Missense_Mutation_p.K373E NM_015450.2 NP_056265.2 Q9NUX5 POTE1_HUMAN protection of telomeres 1 504 DNA duplex unwinding|negative regulation of telomere maintenance via telomerase|positive regulation of DNA strand elongation|positive regulation of helicase activity|positive regulation of telomerase activity|positive regulation of telomere maintenance via telomerase|telomere capping|telomere formation via telomerase|telomere maintenance via telomerase nuclear telomere cap complex|nucleoplasm DEAD/H-box RNA helicase binding|single-stranded telomeric DNA binding|telomerase inhibitor activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1) 47 GAACACTGTTTACATCTGAAA 0.284000 21 45 0 0 1 0 0 LYZL1 84569 broad.mit.edu 37 10 29599113 29599113 + Missense_Mutation SNP T T A TCGA-T3-A92N-01A-11D-A391-08 TCGA-T3-A92N-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40005278-5569-44a5-94a2-9311946aa7ca 8e5216b7-93fa-440f-bf1a-c304f42b98da g.chr10:29599113T>A ENST00000375500.3 + 4 568 c.511T>A c.(511-513)Tat>Aat p.Y171N NM_032517.4 NP_115906.3 Q6UWQ5 LYZL1_HUMAN lysozyme-like 1 125 cell wall macromolecule catabolic process extracellular region lysozyme activity central_nervous_system(1)|cervix(2)|large_intestine(2)|lung(5)|skin(1) 11 Breast(68;0.203) AGGAATGAACTATTGGTAAGA 0.418000 19 70 0 0 1 0 0 CCDC142 84865 broad.mit.edu 37 2 74708183 74708183 + Missense_Mutation SNP G G T TCGA-T3-A92N-01A-11D-A391-08 TCGA-T3-A92N-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40005278-5569-44a5-94a2-9311946aa7ca 8e5216b7-93fa-440f-bf1a-c304f42b98da g.chr2:74708183G>T ENST00000393965.3 - 4 1685 c.1289C>A c.(1288-1290)aCc>aAc p.T430N CCDC142_ENST00000290418.4_Missense_Mutation_p.T423N|CCDC142_ENST00000471713.1_5'UTR NM_032779.3 NP_116168.3 Q17RM4 CC142_HUMAN coiled-coil domain containing 142 430 central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2) 16 GGTCTGAAGGGTACAGAGACC 0.547000 20 58 1.96292e-10 2.10503e-10 1 1 0 THAP2 83591 broad.mit.edu 37 12 72068119 72068119 + Nonsense_Mutation SNP C C T TCGA-T3-A92N-01A-11D-A391-08 TCGA-T3-A92N-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40005278-5569-44a5-94a2-9311946aa7ca 8e5216b7-93fa-440f-bf1a-c304f42b98da g.chr12:72068119C>T ENST00000308086.2 + 2 1709 c.208C>T c.(208-210)Cga>Tga p.R70* RP11-293I14.2_ENST00000548802.1_Nonsense_Mutation_p.R46* NM_031435.3 NP_113623.1 Q9H0W7 THAP2_HUMAN THAP domain containing, apoptosis associated protein 2 70 nucleolus DNA binding|metal ion binding endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1) 10 ACAAACTCGACGACTTAAAAT 0.373000 4 159 0 0 1 0 0 NRG3 10718 broad.mit.edu 37 10 83635667 83635667 + Missense_Mutation SNP G G T TCGA-T3-A92N-01A-11D-A391-08 TCGA-T3-A92N-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40005278-5569-44a5-94a2-9311946aa7ca 8e5216b7-93fa-440f-bf1a-c304f42b98da g.chr10:83635667G>T ENST00000404547.1 + 1 571 c.571G>T c.(571-573)Gcg>Tcg p.A191S NRG3_ENST00000372141.2_Missense_Mutation_p.A191S P56975 NRG3_HUMAN neuregulin 3 191 Ser/Thr-rich. regulation of cell growth extracellular region|integral to plasma membrane growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09) TGCGGCCCCTGCGACGGTCCC 0.716000 14 62 1.15088e-07 1.20158e-07 1 1 0 CASR 846 broad.mit.edu 37 3 121980461 121980461 + Silent SNP G G A TCGA-T3-A92N-01A-11D-A391-08 TCGA-T3-A92N-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40005278-5569-44a5-94a2-9311946aa7ca 8e5216b7-93fa-440f-bf1a-c304f42b98da g.chr3:121980461G>A ENST00000498619.1 + 4 1017 c.579G>A c.(577-579)caG>caA p.Q193Q CASR_ENST00000296154.5_Silent_p.Q193Q|CASR_ENST00000490131.1_Silent_p.Q193Q NM_001178065.1 NP_001171536.1 P41180 CASR_HUMAN calcium-sensing receptor 193 anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification integral to plasma membrane G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 84 GBM - Glioblastoma multiforme(114;0.226) Cinacalcet(DB01012) ATGAGCACCAGGCCACTGCCA 0.527000 38 123 0 0 1 0 0 SLC11A2 4891 broad.mit.edu 37 12 51382111 51382111 + Silent SNP T T C TCGA-T3-A92N-01A-11D-A391-08 TCGA-T3-A92N-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40005278-5569-44a5-94a2-9311946aa7ca 8e5216b7-93fa-440f-bf1a-c304f42b98da g.chr12:51382111T>C ENST00000394904.3 - 16 1819 c.1770A>G c.(1768-1770)aaA>aaG p.K590K SLC11A2_ENST00000547688.1_Silent_p.K590K|SLC11A2_ENST00000547198.1_Intron|SLC11A2_ENST00000545993.2_Silent_p.K557K|SLC11A2_ENST00000541174.2_Silent_p.K561K|SLC11A2_ENST00000262052.5_Silent_p.K561K|SLC11A2_ENST00000262051.7_Intron|SLC11A2_ENST00000546743.1_Silent_p.K482K NM_001174125.1 NP_001167596.1 P49281 NRAM2_HUMAN solute carrier family 11 (proton-coupled divalent metal ion transporter), member 2 0 activation of caspase activity|cellular iron ion homeostasis|cellular response to oxidative stress|detection of oxygen|ferrous iron import|multicellular organismal iron ion homeostasis|response to hypoxia|response to iron ion apical plasma membrane|basal part of cell|cell surface|cytoplasmic vesicle|early endosome|late endosome|late endosome membrane|lysosomal membrane|lysosome|nucleus|paraferritin complex|perinuclear region of cytoplasm|plasma membrane|recycling endosome|trans-Golgi network cadmium ion transmembrane transporter activity|cobalt ion transmembrane transporter activity|copper ion transmembrane transporter activity|ferrous iron transmembrane transporter activity|lead ion transmembrane transporter activity|manganese ion transmembrane transporter activity|nickel ion transmembrane transporter activity|protein binding|solute:hydrogen symporter activity|vanadium ion transmembrane transporter activity|zinc ion transmembrane transporter activity breast(2)|cervix(1)|endometrium(3)|kidney(16)|large_intestine(4)|lung(9)|upper_aerodigestive_tract(1) 36 TCCAGTGTTATTTAACGTAGC 0.478000 27 45 0 0 1 0 0 USP28 57646 broad.mit.edu 37 11 113683157 113683157 + Missense_Mutation SNP T T A TCGA-T3-A92N-01A-11D-A391-08 TCGA-T3-A92N-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40005278-5569-44a5-94a2-9311946aa7ca 8e5216b7-93fa-440f-bf1a-c304f42b98da g.chr11:113683157T>A ENST00000003302.4 - 16 1881 c.1813A>T c.(1813-1815)Atc>Ttc p.I605F USP28_ENST00000545540.1_Missense_Mutation_p.I480F|USP28_ENST00000544967.1_Missense_Mutation_p.I313F|USP28_ENST00000260188.5_Missense_Mutation_p.I605F NM_020886.2 NP_065937.1 Q96RU2 UBP28_HUMAN ubiquitin specific peptidase 28 605 cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process nucleolus|nucleoplasm protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 59 all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425) BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104) TGATTATAGATATAGGCCCAA 0.453000 47 32 0 0 1 0 0 SRCAP 10847 broad.mit.edu 37 16 30721046 30721046 + Silent SNP G G C TCGA-T3-A92N-01A-11D-A391-08 TCGA-T3-A92N-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40005278-5569-44a5-94a2-9311946aa7ca 8e5216b7-93fa-440f-bf1a-c304f42b98da g.chr16:30721046G>C ENST00000262518.4 + 7 1231 c.846G>C c.(844-846)ctG>ctC p.L282L SRCAP_ENST00000344771.4_Silent_p.L282L|SRCAP_ENST00000395059.2_Silent_p.L282L NM_006662.2 NP_006653.2 Q6ZRS2 SRCAP_HUMAN Snf2-related CREBBP activator protein 282 interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|nucleus|protein complex ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5) 136 Colorectal(24;0.198) CTTCTCGCCTGGATGATGAAG 0.567000 30 43 0 0 1 0 0 DUS1L 64118 broad.mit.edu 37 17 80019564 80019564 + Silent SNP C C T TCGA-T3-A92N-01A-11D-A391-08 TCGA-T3-A92N-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40005278-5569-44a5-94a2-9311946aa7ca 8e5216b7-93fa-440f-bf1a-c304f42b98da g.chr17:80019564C>T ENST00000354321.7 - 6 1112 c.627G>A c.(625-627)ggG>ggA p.G209G DUS1L_ENST00000306796.5_Silent_p.G209G Q6P1R4 DUS1L_HUMAN dihydrouridine synthase 1-like (S. cerevisiae) 209 tRNA processing flavin adenine dinucleotide binding|tRNA dihydrouridine synthase activity breast(1)|endometrium(1)|lung(2)|ovary(1)|skin(1) 6 all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246) BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211) ACTGGATGTTCCCGTTAGCAA 0.657000 14 54 0 0 1 0 0 RPTN 126638 broad.mit.edu 37 1 152128196 152128196 + Missense_Mutation SNP C C T TCGA-T3-A92N-01A-11D-A391-08 TCGA-T3-A92N-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40005278-5569-44a5-94a2-9311946aa7ca 8e5216b7-93fa-440f-bf1a-c304f42b98da g.chr1:152128196C>T ENST00000316073.3 - 3 1443 c.1379G>A c.(1378-1380)aGt>aAt p.S460N NM_001122965.1 NP_001116437.1 Q6XPR3 RPTN_HUMAN repetin 460 Gln-rich. proteinaceous extracellular matrix calcium ion binding breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 59 ATAGTGGGAACTCTGGCCTTG 0.512000 190 440 0 0 1 0 0 TNIP1 10318 broad.mit.edu 37 5 150436497 150436497 + Missense_Mutation SNP C C T TCGA-T3-A92N-01A-11D-A391-08 TCGA-T3-A92N-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40005278-5569-44a5-94a2-9311946aa7ca 8e5216b7-93fa-440f-bf1a-c304f42b98da g.chr5:150436497C>T ENST00000389378.2 - 6 1045 c.457G>A c.(457-459)Gag>Aag p.E153K TNIP1_ENST00000521591.1_Missense_Mutation_p.E153K|TNIP1_ENST00000524280.1_Missense_Mutation_p.E153K|TNIP1_ENST00000522226.1_Missense_Mutation_p.E153K|TNIP1_ENST00000518977.1_Missense_Mutation_p.E153K|TNIP1_ENST00000520931.1_Missense_Mutation_p.E100K|TNIP1_ENST00000523200.1_Missense_Mutation_p.E153K|TNIP1_ENST00000315050.7_Missense_Mutation_p.E153K|TNIP1_ENST00000523338.1_Missense_Mutation_p.E153K NM_001252385.1|NM_001252393.1|NM_001258454.1|NM_006058.4 NP_001239314.1|NP_001239322.1|NP_001245383.1|NP_006049.3 Q15025 TNIP1_HUMAN TNFAIP3 interacting protein 1 153 Interacts with Nef. defense response|glycoprotein biosynthetic process|negative regulation of viral genome replication|translation cytoplasm|nucleus protein binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(5)|ovary(2)|prostate(2)|skin(3) 23 Medulloblastoma(196;0.0911)|all_hematologic(541;0.207) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) TTGCCGTCCTCACGGGGCAGG 0.682000 20 21 0 0 1 0 0 RUNX1T1 862 broad.mit.edu 37 8 92972595 92972595 + Missense_Mutation SNP G G T TCGA-T3-A92N-01A-11D-A391-08 TCGA-T3-A92N-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40005278-5569-44a5-94a2-9311946aa7ca 8e5216b7-93fa-440f-bf1a-c304f42b98da g.chr8:92972595G>T ENST00000523629.1 - 12 2144 c.1690C>A c.(1690-1692)Cct>Act p.P564T RUNX1T1_ENST00000422361.2_Missense_Mutation_p.P527T|RUNX1T1_ENST00000520724.1_Missense_Mutation_p.P527T|RUNX1T1_ENST00000265814.3_Missense_Mutation_p.P564T|RUNX1T1_ENST00000436581.2_Missense_Mutation_p.P575T|RUNX1T1_ENST00000518844.1_Missense_Mutation_p.P537T|RUNX1T1_ENST00000396218.1_Missense_Mutation_p.P537T|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.P527T NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2 NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1 Q06455 MTG8_HUMAN runt-related transcription factor 1; translocated to, 1 (cyclin D-related) 564 generation of precursor metabolites and energy nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2) 86 BRCA - Breast invasive adenocarcinoma(11;0.0141) CTGACTGCAGGTGTGTCTCCC 0.622000 25 20 6.21321e-17 6.81727e-17 1 1 0 ACSM2B 348158 broad.mit.edu 37 16 20554565 20554565 + Missense_Mutation SNP G G A TCGA-T3-A92N-01A-11D-A391-08 TCGA-T3-A92N-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40005278-5569-44a5-94a2-9311946aa7ca 8e5216b7-93fa-440f-bf1a-c304f42b98da g.chr16:20554565G>A ENST00000329697.6 - 11 1469 c.1301C>T c.(1300-1302)gCa>gTa p.A434V ACSM2B_ENST00000565322.1_Missense_Mutation_p.A355V|ACSM2B_ENST00000567001.1_Missense_Mutation_p.A434V|ACSM2B_ENST00000565232.1_Missense_Mutation_p.A434V NM_001105069.1 NP_001098539.1 Q68CK6 ACS2B_HUMAN acyl-CoA synthetase medium-chain family member 2B 434 fatty acid metabolic process|xenobiotic metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5) 57 AATGTTGGCTGCTGTCTTGTC 0.488000 39 38 0 0 1 0 0 MTMR1 8776 broad.mit.edu 37 X 149867750 149867750 + Missense_Mutation SNP G G A TCGA-T3-A92N-01A-11D-A391-08 TCGA-T3-A92N-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40005278-5569-44a5-94a2-9311946aa7ca 8e5216b7-93fa-440f-bf1a-c304f42b98da g.chrX:149867750G>A ENST00000445323.2 + 2 350 c.229G>A c.(229-231)Gaa>Aaa p.E77K MTMR1_ENST00000451863.2_Missense_Mutation_p.E77K|MTMR1_ENST00000542156.1_Missense_Mutation_p.E77K|MTMR1_ENST00000544228.1_Missense_Mutation_p.E77K|MTMR1_ENST00000541925.1_5'UTR|MTMR1_ENST00000370390.3_Missense_Mutation_p.E77K Q13613 MTMR1_HUMAN myotubularin related protein 1 77 plasma membrane protein tyrosine phosphatase activity central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(5)|ovary(2)|prostate(1) 23 Acute lymphoblastic leukemia(192;6.56e-05) AGTGACATCAGAAAATGTGTC 0.363000 31 24 0 0 1 0 0 OR10Z1 128368 broad.mit.edu 37 1 158577123 158577123 + Missense_Mutation SNP A A G TCGA-T3-A92N-01A-11D-A391-08 TCGA-T3-A92N-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40005278-5569-44a5-94a2-9311946aa7ca 8e5216b7-93fa-440f-bf1a-c304f42b98da g.chr1:158577123A>G ENST00000361284.1 + 1 895 c.895A>G c.(895-897)Aca>Gca p.T299A NM_001004478.1 NP_001004478.1 Q8NGY1 O10Z1_HUMAN olfactory receptor, family 10, subfamily Z, member 1 299 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4) 37 all_hematologic(112;0.0378) GGCTATACAGACAGCTCTGAG 0.453000 31 154 0 0 1 0 0 SLC23A2 9962 broad.mit.edu 37 20 4880344 4880344 + Silent SNP G G A TCGA-T3-A92N-01A-11D-A391-08 TCGA-T3-A92N-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40005278-5569-44a5-94a2-9311946aa7ca 8e5216b7-93fa-440f-bf1a-c304f42b98da g.chr20:4880344G>A ENST00000379333.1 - 6 731 c.339C>T c.(337-339)tgC>tgT p.C113C SLC23A2_ENST00000424750.2_Silent_p.C113C|SLC23A2_ENST00000468355.1_5'UTR|SLC23A2_ENST00000338244.1_Silent_p.C113C NM_203327.1 NP_976072.1 Q9UGH3 S23A2_HUMAN solute carrier family 23 (ascorbic acid transporter), member 2 113 L-ascorbic acid metabolic process|molecular hydrogen transport|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transepithelial L-ascorbic acid transport apical plasma membrane|integral to plasma membrane|membrane fraction nucleobase transmembrane transporter activity|sodium-dependent L-ascorbate transmembrane transporter activity|sodium-dependent multivitamin transmembrane transporter activity endometrium(1)|kidney(3)|large_intestine(9)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 27 TGCCGCTGAAGCATGTCAGGT 0.502000 40 88 0 0 1 0 0 NFE2L2 4780 broad.mit.edu 37 2 178098800 178098800 + Missense_Mutation SNP T T A TCGA-T3-A92N-01A-11D-A391-08 TCGA-T3-A92N-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40005278-5569-44a5-94a2-9311946aa7ca 8e5216b7-93fa-440f-bf1a-c304f42b98da g.chr2:178098800T>A ENST00000397062.3 - 2 799 c.245A>T c.(244-246)gAa>gTa p.E82V NFE2L2_ENST00000423513.1_Missense_Mutation_p.E66V|NFE2L2_ENST00000397063.4_Missense_Mutation_p.E66V|NFE2L2_ENST00000464747.1_Missense_Mutation_p.E66V|NFE2L2_ENST00000446151.2_Missense_Mutation_p.E66V NM_006164.4 NP_006155.2 Q16236 NF2L2_HUMAN nuclear factor, erythroid 2-like 2 82 transcription from RNA polymerase II promoter centrosome|cytosol|nucleus|plasma membrane protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.E82G(3)|p.G81_F83delGEF(1)|p.E82V(1) central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4) 158 Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935) TGGGAGAAATTCACCTGTCTC 0.433000 Mis """NSCLC, HNSCC""" HNSCC(56;0.16) 73 34 0 0 1 0 0 HMGB3 3149 broad.mit.edu 37 X 150156360 150156360 + Silent SNP G G A TCGA-T3-A92N-01A-11D-A391-08 TCGA-T3-A92N-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40005278-5569-44a5-94a2-9311946aa7ca 8e5216b7-93fa-440f-bf1a-c304f42b98da g.chrX:150156360G>A ENST00000325307.7 + 5 672 c.576G>A c.(574-576)gaG>gaA p.E192E HMGB3_ENST00000448905.2_Silent_p.E192E NM_005342.2 NP_005333.2 O15347 HMGB3_HUMAN high mobility group box 3 192 Asp/Glu-rich (acidic). DNA recombination|multicellular organismal development chromosome|nucleus DNA bending activity|double-stranded DNA binding p.E192E(1) endometrium(3)|large_intestine(2)|lung(2)|skin(1) 8 Acute lymphoblastic leukemia(192;6.56e-05) aggaagaagaggaggaggagg 0.443000 4 83 0 0 1 0 0 ZNF431 170959 broad.mit.edu 37 19 21366030 21366030 + Silent SNP A A T TCGA-T3-A92N-01A-11D-A391-08 TCGA-T3-A92N-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40005278-5569-44a5-94a2-9311946aa7ca 8e5216b7-93fa-440f-bf1a-c304f42b98da g.chr19:21366030A>T ENST00000311048.7 + 5 1068 c.924A>T c.(922-924)atA>atT p.I308I ZNF431_ENST00000594425.1_Intron|ZNF431_ENST00000600692.1_3'UTR NM_133473.2 NP_597730.2 Q8TF32 ZN431_HUMAN zinc finger protein 431 308 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 23 CACATAAGATAATTCATACTG 0.393000 18 43 0 0 1 0 0 CARD14 79092 broad.mit.edu 37 17 78155327 78155327 + Silent SNP C C T TCGA-T3-A92N-01A-11D-A391-08 TCGA-T3-A92N-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40005278-5569-44a5-94a2-9311946aa7ca 8e5216b7-93fa-440f-bf1a-c304f42b98da g.chr17:78155327C>T ENST00000573882.1 + 4 626 c.90C>T c.(88-90)atC>atT p.I30I CARD14_ENST00000344227.2_Silent_p.I30I|CARD14_ENST00000570421.1_Silent_p.I30I Q9BXL6 CAR14_HUMAN caspase recruitment domain family, member 14 30 CARD. activation of NF-kappaB-inducing kinase activity|positive regulation of protein phosphorylation|regulation of apoptosis aggresome|cytoplasm|plasma membrane CARD domain binding NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(5)|prostate(1)|skin(1) 23 all_neural(118;0.0952) OV - Ovarian serous cystadenocarcinoma(97;0.017)|BRCA - Breast invasive adenocarcinoma(99;0.0908) GCCACAGGATCGTACGCTGCA 0.677000 5 6 0 0 1 0 0 ZNF792 126375 broad.mit.edu 37 19 35449416 35449416 + Missense_Mutation SNP C C T TCGA-T3-A92N-01A-11D-A391-08 TCGA-T3-A92N-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40005278-5569-44a5-94a2-9311946aa7ca 8e5216b7-93fa-440f-bf1a-c304f42b98da g.chr19:35449416C>T ENST00000404801.1 - 4 1729 c.1343G>A c.(1342-1344)cGg>cAg p.R448Q ZNF792_ENST00000605484.1_Missense_Mutation_p.R381Q NM_175872.4 NP_787068.3 Q3KQV3 ZN792_HUMAN zinc finger protein 792 448 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5) 12 all_lung(56;4.18e-08)|Lung NSC(56;6.62e-08)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0849) CCCGTGAGGCCGCTCGCCAGT 0.502000 30 93 0 0 1 0 0 KMT2E 55904 broad.mit.edu 37 7 104752302 104752302 + Missense_Mutation SNP C C G TCGA-T3-A92N-01A-11D-A391-08 TCGA-T3-A92N-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40005278-5569-44a5-94a2-9311946aa7ca 8e5216b7-93fa-440f-bf1a-c304f42b98da g.chr7:104752302C>G ENST00000334877.4 + 26 4507 c.3973C>G c.(3973-3975)Caa>Gaa p.Q1325E KMT2E_ENST00000257745.4_Missense_Mutation_p.Q1367E|KMT2E_ENST00000334914.7_Missense_Mutation_p.Q422E|KMT2E_ENST00000311117.3_Missense_Mutation_p.Q1367E|SRPK2_ENST00000493638.1_Intron lysine (K)-specific methyltransferase 2E AATTCCTGCTCAAGCACACGG 0.408000 40 87 0 0 1 0 0 HIST1H2BA 255626 broad.mit.edu 37 6 25727462 25727462 + Missense_Mutation SNP C C T TCGA-T3-A92N-01A-11D-A391-08 TCGA-T3-A92N-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40005278-5569-44a5-94a2-9311946aa7ca 8e5216b7-93fa-440f-bf1a-c304f42b98da g.chr6:25727462C>T ENST00000274764.2 + 1 326 c.326C>T c.(325-327)gCt>gTt p.A109V NM_170610.2 NP_733759.1 Q96A08 H2B1A_HUMAN histone cluster 1, H2ba 109 nucleosome assembly nucleosome|nucleus DNA binding breast(1)|kidney(1) 2 GGAGAGCTGGCTAAACATGCT 0.522000 17 28 0 0 1 0 0 CSE1L 1434 broad.mit.edu 37 20 47707502 47707502 + Missense_Mutation SNP A A G TCGA-T3-A92N-01A-11D-A391-08 TCGA-T3-A92N-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40005278-5569-44a5-94a2-9311946aa7ca 8e5216b7-93fa-440f-bf1a-c304f42b98da g.chr20:47707502A>G ENST00000262982.2 + 21 2431 c.2308A>G c.(2308-2310)Atc>Gtc p.I770V CSE1L_ENST00000542325.1_Missense_Mutation_p.I553V|CSE1L_ENST00000469700.1_3'UTR|CSE1L_ENST00000396192.3_Missense_Mutation_p.I714V NM_001256135.1|NM_001316.3 NP_001243064.1|NP_001307.2 P55060 XPO2_HUMAN CSE1 chromosome segregation 1-like (yeast) 770 apoptosis|cell proliferation|intracellular protein transport cytoplasm|nucleus importin-alpha export receptor activity breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2) 35 BRCA - Breast invasive adenocarcinoma(12;0.000491)|Colorectal(8;0.198) TAGGAAACAAATCTTCATTCT 0.284000 60 58 0 0 1 0 0 PML 5371 broad.mit.edu 37 15 74328212 74328212 + Missense_Mutation SNP C C G TCGA-T3-A92N-01A-11D-A391-08 TCGA-T3-A92N-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40005278-5569-44a5-94a2-9311946aa7ca 8e5216b7-93fa-440f-bf1a-c304f42b98da g.chr15:74328212C>G ENST00000268059.6 + 8 2506 c.2410C>G c.(2410-2412)Cca>Gca p.P804A PML_ENST00000569965.1_Intron|PML_ENST00000564428.1_Intron|PML_ENST00000436891.3_3'UTR|PML_ENST00000354026.6_Missense_Mutation_p.P756A|PML_ENST00000395132.2_Intron|PML_ENST00000395135.3_Intron|PML_ENST00000435786.2_3'UTR|PML_ENST00000359928.4_Intron|PML_ENST00000565898.1_Intron|PML_ENST00000268058.3_Intron|PML_ENST00000563500.1_3'UTR NM_033239.2|NM_033244.3 NP_150242.1|NP_150247.2 P29590 PML_HUMAN promyelocytic leukemia 94 cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction resulting in induction of apoptosis|endoplasmic reticulum calcium ion homeostasis|induction of apoptosis|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|maintenance of protein location in nucleus|negative regulation of angiogenesis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of mitotic cell cycle|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|negative regulation of telomerase activity|negative regulation of telomere maintenance via telomerase|negative regulation of transcription, DNA-dependent|negative regulation of translation in response to oxidative stress|PML body organization|positive regulation of defense response to virus by host|positive regulation of histone deacetylation|protein complex assembly|protein stabilization|protein targeting|regulation of calcium ion transport into cytosol|regulation of protein phosphorylation|response to hypoxia|response to virus|transcription, DNA-dependent cytoplasm|cytosol|early endosome membrane|extrinsic to endoplasmic reticulum membrane|insoluble fraction|nuclear matrix|nuclear membrane|nucleolus|nucleus|PML body cobalt ion binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|SUMO binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 31 GGAAGCCTCTCCAATTACATT 0.607000 T """RARA, PAX5""" """APL, ALL""" 76 176 0 0 1 0 0 MGAT2 4247 broad.mit.edu 37 14 50088589 50088589 + Silent SNP G G A TCGA-T3-A92N-01A-11D-A391-08 TCGA-T3-A92N-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40005278-5569-44a5-94a2-9311946aa7ca 8e5216b7-93fa-440f-bf1a-c304f42b98da g.chr14:50088589G>A ENST00000305386.2 + 1 1101 c.603G>A c.(601-603)ccG>ccA p.P201P RP11-649E7.5_ENST00000555043.1_RNA NM_002408.3 NP_002399.1 Q10469 MGAT2_HUMAN mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase 201 oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|Golgi stack|integral to membrane|membrane fraction alpha-1,6-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity cervix(1)|endometrium(3)|large_intestine(1)|lung(6) 11 all_epithelial(31;0.0021)|Breast(41;0.0124) GAGACCTGCCGAAGAATGCCG 0.488000 169 95 0 0 1 0 0 CTGF 1490 broad.mit.edu 37 6 132270505 132270505 + Missense_Mutation SNP T T A TCGA-T3-A92N-01A-11D-A391-08 TCGA-T3-A92N-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40005278-5569-44a5-94a2-9311946aa7ca 8e5216b7-93fa-440f-bf1a-c304f42b98da g.chr6:132270505T>A ENST00000367976.3 - 5 1149 c.949A>T c.(949-951)Atg>Ttg p.M317L NM_001901.2 NP_001892.1 P29279 CTGF_HUMAN connective tissue growth factor 317 CTCK.|Heparin-binding. cellular lipid metabolic process|DNA replication|epidermis development|regulation of cell growth|response to wounding plasma membrane|proteinaceous extracellular matrix heparin binding|insulin-like growth factor binding breast(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(3)|prostate(1) 13 Breast(56;0.0602) GBM - Glioblastoma multiforme(226;0.015)|OV - Ovarian serous cystadenocarcinoma(155;0.0169) ATGAACATCATGTTCTTCTTC 0.537000 38 66 0 0 1 0 0 AKAP7 9465 broad.mit.edu 37 6 131481297 131481297 + Missense_Mutation SNP C C G TCGA-T3-A92N-01A-11D-A391-08 TCGA-T3-A92N-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40005278-5569-44a5-94a2-9311946aa7ca 8e5216b7-93fa-440f-bf1a-c304f42b98da g.chr6:131481297C>G ENST00000431975.2 + 3 348 c.250C>G c.(250-252)Caa>Gaa p.Q84E AKAP7_ENST00000366358.2_3'UTR|AKAP7_ENST00000368123.4_Missense_Mutation_p.Q62E|AKAP7_ENST00000541650.1_Missense_Mutation_p.Q83E NM_016377.3 NP_057461.2 O43687 AKA7A_HUMAN A kinase (PRKA) anchor protein 7 0 intracellular signal transduction|ion transport apical plasma membrane|intracellular|lateral plasma membrane protein kinase A binding endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|stomach(1) 13 Breast(56;0.152) GBM - Glioblastoma multiforme(226;0.0184)|OV - Ovarian serous cystadenocarcinoma(155;0.0345) AAAAGATTATCAACCCAACTA 0.299000 28 40 0 0 1 0 0 GTPBP3 84705 broad.mit.edu 37 19 17449927 17449927 + Silent SNP C C G TCGA-T3-A92N-01A-11D-A391-08 TCGA-T3-A92N-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40005278-5569-44a5-94a2-9311946aa7ca 8e5216b7-93fa-440f-bf1a-c304f42b98da g.chr19:17449927C>G ENST00000358792.7 + 5 813 c.756C>G c.(754-756)ccC>ccG p.P252P GTPBP3_ENST00000598038.1_3'UTR|GTPBP3_ENST00000600625.1_Intron|GTPBP3_ENST00000324894.8_Intron|GTPBP3_ENST00000361619.5_Intron Q969Y2 GTPB3_HUMAN GTP binding protein 3 (mitochondrial) 221 tRNA modification mitochondrion GTP binding|GTPase activity breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1) 18 TTCTCTCACCCACAGCCGACA 0.627000 17 35 0 0 1 0 0 SLC25A2 83884 broad.mit.edu 37 5 140682872 140682872 + Missense_Mutation SNP G G C TCGA-T3-A92N-01A-11D-A391-08 TCGA-T3-A92N-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40005278-5569-44a5-94a2-9311946aa7ca 8e5216b7-93fa-440f-bf1a-c304f42b98da g.chr5:140682872G>C ENST00000239451.4 - 1 740 c.561C>G c.(559-561)ttC>ttG p.F187L NM_031947.2 NP_114153.1 Q9BXI2 ORNT2_HUMAN solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 2 187 mitochondrial ornithine transport|urea cycle integral to membrane|mitochondrial inner membrane L-ornithine transmembrane transporter activity breast(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 19 all_lung(500;0.000249)|Lung NSC(810;0.0011)|Ovarian(839;0.00556)|Breast(839;0.0173)|all_hematologic(541;0.152) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GBM - Glioblastoma multiforme(465;0.00204) L-Ornithine(DB00129) AGCCACCAAAGAAAAAGAAAT 0.463000 25 67 0 0 1 0 0 ACMSD 130013 broad.mit.edu 37 2 135596302 135596303 + Frame_Shift_Ins INS - - A TCGA-T3-A92N-01A-11D-A391-08 TCGA-T3-A92N-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40005278-5569-44a5-94a2-9311946aa7ca 8e5216b7-93fa-440f-bf1a-c304f42b98da g.chr2:135596302_135596303insA ENST00000356140.5 + 1 186_187 c.50_51insA c.(49-51)caafs p.Q17fs ACMSD_ENST00000283054.4_5'UTR|AC016725.4_ENST00000392929.2_RNA|ACMSD_ENST00000392928.1_5'UTR NM_138326.2 NP_612199.2 Q8TDX5 ACMSD_HUMAN aminocarboxymuconate semialdehyde decarboxylase 17 quinolinate metabolic process|tryptophan catabolic process cytosol aminocarboxymuconate-semialdehyde decarboxylase activity|metal ion binding endometrium(3)|large_intestine(4)|lung(6)|skin(1) 14 BRCA - Breast invasive adenocarcinoma(221;0.115) TGGCCAGATCTAAAAAAGGTAA 0.347 12 38 --- --- --- --- SENP7 57337 broad.mit.edu 37 3 101070484 101070484 + Frame_Shift_Del DEL T T - TCGA-T3-A92N-01A-11D-A391-08 TCGA-T3-A92N-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40005278-5569-44a5-94a2-9311946aa7ca 8e5216b7-93fa-440f-bf1a-c304f42b98da g.chr3:101070484delT ENST00000394095.2 - 12 1688 c.1635delA c.(1633-1635)aafs p.K545fs SENP7_ENST00000394091.1_Frame_Shift_Del_p.K381fs|SENP7_ENST00000348610.3_Frame_Shift_Del_p.K512fs|SENP7_ENST00000358203.3_Frame_Shift_Del_p.K381fs|SENP7_ENST00000394094.2_Frame_Shift_Del_p.K480fs|SENP7_ENST00000314261.7_Frame_Shift_Del_p.K479fs NM_020654.3 NP_065705.3 Q9BQF6 SENP7_HUMAN SUMO1/sentrin specific peptidase 7 545 proteolysis nucleus cysteine-type peptidase activity breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 TCTTAATATATTTTTTTGTGA 0.219 9 42 --- --- --- --- MFI2 4241 broad.mit.edu 37 3 196751281 196751282 + Frame_Shift_Ins INS - - CGCCT TCGA-T3-A92N-01A-11D-A391-08 TCGA-T3-A92N-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40005278-5569-44a5-94a2-9311946aa7ca 8e5216b7-93fa-440f-bf1a-c304f42b98da g.chr3:196751281_196751282insCGCCT ENST00000296350.5 - 4 492_493 c.379_380insAGGCG c.(379-381)gaafs p.E127fs MFI2_ENST00000296351.4_Frame_Shift_Ins_p.E127fs NM_005929.5 NP_005920.2 P08582 TRFM_HUMAN antigen p97 (melanoma associated) identified by monoclonal antibodies 133.2 and 96.5 127 Transferrin-like 1. cellular iron ion homeostasis|iron ion transport anchored to membrane|extracellular region|integral to plasma membrane ferric iron binding|protein binding breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(1) 20 all_cancers(143;3.95e-09)|Ovarian(172;0.0634)|Breast(254;0.0838) Epithelial(36;4.55e-24)|all cancers(36;2.87e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00536) GCAGGACTTCACGCCTTTCAGG 0.629 26 104 --- --- --- --- GTF2IRD2P1 401375 broad.mit.edu 37 7 72685509 72685511 + RNA DEL AAT AAT - TCGA-T3-A92N-01A-11D-A391-08 TCGA-T3-A92N-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40005278-5569-44a5-94a2-9311946aa7ca 8e5216b7-93fa-440f-bf1a-c304f42b98da g.chr7:72685509_72685511delAAT ENST00000425256.1 - 0 120 NR_002164.1 aaaaaaaaaaaatagaaTTAATG 0.473 8 107 --- --- --- --- CYP51A1 1595 broad.mit.edu 37 7 91752493 91752494 + Frame_Shift_Ins INS - - T TCGA-T3-A92N-01A-11D-A391-08 TCGA-T3-A92N-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40005278-5569-44a5-94a2-9311946aa7ca 8e5216b7-93fa-440f-bf1a-c304f42b98da g.chr7:91752493_91752494insT ENST00000003100.8 - 7 1191_1192 c.1026_1027insA c.(1024-1029)aagttafs p.L343fs CYP51A1_ENST00000450723.1_Frame_Shift_Ins_p.L238fs|LRRD1_ENST00000422722.1_5'UTR NM_000786.3 NP_000777.1 Q16850 CP51A_HUMAN cytochrome P450, family 51, subfamily A, polypeptide 1 337 cholesterol biosynthetic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome electron carrier activity|heme binding|sterol 14-demethylase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|skin(1) 10 all_cancers(62;2.16e-09)|all_epithelial(64;3.86e-08)|Breast(17;0.00206)|all_lung(186;0.169)|all_hematologic(106;0.215)|Lung NSC(181;0.227) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) Fluconazole(DB00196)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Miconazole(DB01110)|Terconazole(DB00251) TCTAAATAACATTTTTTTTGAA 0.396 78 178 --- --- --- --- ADAM28 10863 broad.mit.edu 37 8 24167472 24167473 + Frame_Shift_Ins INS - - A TCGA-T3-A92N-01A-11D-A391-08 TCGA-T3-A92N-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40005278-5569-44a5-94a2-9311946aa7ca 8e5216b7-93fa-440f-bf1a-c304f42b98da g.chr8:24167472_24167473insA ENST00000265769.4 + 3 326_327 c.216_217insA c.(214-219)ttaaaafs p.LK72fs RP11-624C23.1_ENST00000519689.1_RNA|ADAM28_ENST00000540823.1_5'UTR|RP11-624C23.1_ENST00000518988.1_RNA|RP11-624C23.1_ENST00000523700.1_RNA|ADAM28_ENST00000437154.2_Frame_Shift_Ins_p.LK72fs|RP11-624C23.1_ENST00000523578.1_RNA|ADAM28_ENST00000397649.3_5'UTR NM_014265.4 NP_055080.2 Q9UKQ2 ADA28_HUMAN ADAM metallopeptidase domain 28 72 proteolysis|spermatogenesis extracellular region|integral to membrane|plasma membrane metalloendopeptidase activity|zinc ion binding p.N75fs*15(1) central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 Prostate(55;0.0959) Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175) TGCTTTATTTGAAAAAAAACAA 0.332 22 29 --- --- --- --- MROH5 389690 broad.mit.edu 37 8 142483606 142483606 + RNA DEL G G - TCGA-T3-A92N-01A-11D-A391-08 TCGA-T3-A92N-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40005278-5569-44a5-94a2-9311946aa7ca 8e5216b7-93fa-440f-bf1a-c304f42b98da g.chr8:142483606delG ENST00000430863.1 - 0 1845 NM_207414.2 NP_997297.2 maestro heat-like repeat family member 5 GAGGAAGGGCGGGGGGGAGTG 0.657 2 4 --- --- --- --- KDM5A 5927 broad.mit.edu 37 12 416981 416981 + Frame_Shift_Del DEL G G - TCGA-T3-A92N-01A-11D-A391-08 TCGA-T3-A92N-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40005278-5569-44a5-94a2-9311946aa7ca 8e5216b7-93fa-440f-bf1a-c304f42b98da g.chr12:416981delG ENST00000399788.2 - 23 3931 c.3569delC c.(3568-3570)ctfs p.P1190fs KDM5A_ENST00000382815.4_Frame_Shift_Del_p.P1190fs NM_001042603.1 NP_001036068.1 P29375 KDM5A_HUMAN lysine (K)-specific demethylase 5A 1190 P -> A (in dbSNP:rs2229353). chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter cytoplasm|nucleolus DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2) 77 TTTAGGAAGAGGAACACAGCT 0.448 T NUP98 AML 37 192 --- --- --- --- TNFRSF1A 7132 broad.mit.edu 37 12 6438752 6438752 + Frame_Shift_Del DEL T T - TCGA-T3-A92N-01A-11D-A391-08 TCGA-T3-A92N-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40005278-5569-44a5-94a2-9311946aa7ca 8e5216b7-93fa-440f-bf1a-c304f42b98da g.chr12:6438752delT ENST00000162749.2 - 10 1393 c.1094delA c.(1093-1095)acfs p.N365fs TNFRSF1A_ENST00000540022.1_Frame_Shift_Del_p.N322fs NM_001065.3 NP_001056.1 P19438 TNR1A_HUMAN tumor necrosis factor receptor superfamily, member 1A 365 Death. apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|inflammatory response|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of inflammatory response|positive regulation of transcription from RNA polymerase II promoter|prostaglandin metabolic process extracellular region|integral to plasma membrane|membrane raft tumor necrosis factor receptor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 19 CGGGGGCACGTTCTCCACCAC 0.731 14 23 --- --- --- --- BAZ1A 11177 broad.mit.edu 37 14 35331380 35331381 + Frame_Shift_Ins INS - - A TCGA-T3-A92N-01A-11D-A391-08 TCGA-T3-A92N-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40005278-5569-44a5-94a2-9311946aa7ca 8e5216b7-93fa-440f-bf1a-c304f42b98da g.chr14:35331380_35331381insA ENST00000360310.1 - 3 828_829 c.261_262insT c.(259-264)atcagtfs p.S88fs BAZ1A_ENST00000382422.2_Frame_Shift_Ins_p.S88fs|BAZ1A_ENST00000358716.4_Frame_Shift_Ins_p.S88fs|BAZ1A_ENST00000553853.1_5'UTR NM_013448.2 NP_038476.2 Q9NRL2 BAZ1A_HUMAN bromodomain adjacent to zinc finger domain, 1A 88 Required for association with the CHRAC1/POLE3 complex.|Required for interaction with NCOR1.|WAC. chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent ACF complex zinc ion binding breast(2)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(2)|large_intestine(7)|lung(19)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 Breast(36;0.0388)|Hepatocellular(127;0.158) LUAD - Lung adenocarcinoma(48;7.23e-05)|Lung(238;0.00019)|Epithelial(34;0.0793)|all cancers(34;0.175) GBM - Glioblastoma multiforme(112;0.0659) TATAAAACTGGAATAATTAGTG 0.406 586 149 --- --- --- --- LINC00639 283547 broad.mit.edu 37 14 39304293 39304296 + RNA DEL CACA CACA - rs5808014 by1000genomes TCGA-T3-A92N-01A-11D-A391-08 TCGA-T3-A92N-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40005278-5569-44a5-94a2-9311946aa7ca 8e5216b7-93fa-440f-bf1a-c304f42b98da g.chr14:39304293_39304296delCACA ENST00000553932.1 - 0 3985 CGCCCTGCTCcacacacacacaca 0.475 3 3 --- --- --- --- DNAAF2 55172 broad.mit.edu 37 14 50092638 50092639 + Frame_Shift_Ins INS - - A TCGA-T3-A92N-01A-11D-A391-08 TCGA-T3-A92N-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40005278-5569-44a5-94a2-9311946aa7ca 8e5216b7-93fa-440f-bf1a-c304f42b98da g.chr14:50092638_50092639insA ENST00000298292.8 - 3 2215_2216 c.2135_2136insT c.(2134-2136)agcfs p.S712fs DNAAF2_ENST00000406043.3_Frame_Shift_Ins_p.S664fs NM_018139.2 NP_060609.2 Q9NVR5 KTU_HUMAN dynein, axonemal, assembly factor 2 712 axonemal dynein complex assembly|ciliary cell motility|flagellar cell motility cytoplasm kidney(1)|lung(4) 5 CTTTAACTGCTATAGATGAATC 0.342 20 97 --- --- --- --- SOX8 30812 broad.mit.edu 37 16 1032188 1032190 + In_Frame_Del DEL GCG GCG - TCGA-T3-A92N-01A-11D-A391-08 TCGA-T3-A92N-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40005278-5569-44a5-94a2-9311946aa7ca 8e5216b7-93fa-440f-bf1a-c304f42b98da g.chr16:1032188_1032190delGCG ENST00000293894.3 + 1 381_383 c.266_268delGCG c.(265-270)cgc>c p.RG89del NM_014587.3 NP_055402.2 P57073 SOX8_HUMAN SRY (sex determining region Y)-box 8 89 adipose tissue development|enteric nervous system development|fat cell differentiation|in utero embryonic development|metanephric nephron tubule formation|morphogenesis of a branching epithelium|negative regulation of apoptosis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|neural crest cell migration|oligodendrocyte differentiation|osteoblast differentiation|peripheral nervous system development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of gliogenesis|positive regulation of osteoblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone levels|renal vesicle induction|retinal rod cell differentiation|Sertoli cell development|signal transduction|spermatogenesis|ureter morphogenesis cytoplasm|nucleus p.G94delG(1) central_nervous_system(1)|kidney(1)|lung(5)|prostate(2)|skin(1) 10 Hepatocellular(780;0.00308) ATGCCGGTgcgcggcggcggcgg 0.729 2 4 --- --- --- --- MAMLD1 10046 broad.mit.edu 37 X 149638187 149638187 + Frame_Shift_Del DEL A A - TCGA-T3-A92N-01A-11D-A391-08 TCGA-T3-A92N-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40005278-5569-44a5-94a2-9311946aa7ca 8e5216b7-93fa-440f-bf1a-c304f42b98da g.chrX:149638187delA ENST00000370401.2 + 4 652 c.342delA c.(340-342)acfs p.T114fs MAMLD1_ENST00000426613.2_Frame_Shift_Del_p.T89fs|MAMLD1_ENST00000262858.5_Frame_Shift_Del_p.T114fs|MAMLD1_ENST00000432680.2_Frame_Shift_Del_p.T89fs|MAMLD1_ENST00000468306.1_3'UTR Q13495 MAMD1_HUMAN mastermind-like domain containing 1 114 male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2) 37 Acute lymphoblastic leukemia(192;6.56e-05) CTCCATTGACAATAAATCCTA 0.493 74 22 --- --- --- ---