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 PEX14 5195 broad.mit.edu 37 1 10683104 10683104 + Missense_Mutation SNP G G T TCGA-14-1825-01A-01W-0643-08 TCGA-14-1825-10A-01W-0644-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0d7cb8b-995c-419b-a366-aadb156879bc 3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54 g.chr1:10683104G>T uc001arn.3 + 5 434 c.413G>T c.(412-414)gGc>gTc p.G138V PEX14_uc009vmu.1_Missense_Mutation_p.G95V|PEX14_uc009vmv.3_Missense_Mutation_p.G74V|PEX14_uc010oam.2_Missense_Mutation_p.G74V|PEX14_uc010oan.2_Missense_Mutation_p.G95V|PEX14_uc009vmw.3_Missense_Mutation_p.G74V NM_004565 NP_004556 O75381 PEX14_HUMAN Homo sapiens peroxisomal biogenesis factor 14 (PEX14), mRNA. 138 negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|protein homooligomerization|protein import into peroxisome matrix|transmembrane transport integral to membrane|nucleus|peroxisomal membrane|protein complex protein N-terminus binding|transcription corepressor activity breast(3)|endometrium(1)|large_intestine(3)|lung(5)|prostate(1) 13 Ovarian(185;0.203) all_lung(284;6.02e-06)|Lung NSC(185;9.62e-06)|Renal(390;0.000147)|Breast(348;0.000932)|Colorectal(325;0.00215)|Hepatocellular(190;0.00913)|Ovarian(437;0.023)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0292)|Colorectal(212;9.13e-08)|COAD - Colon adenocarcinoma(227;2.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000482)|Kidney(185;0.00174)|KIRC - Kidney renal clear cell carcinoma(229;0.00457)|STAD - Stomach adenocarcinoma(132;0.0249)|READ - Rectum adenocarcinoma(331;0.0419) ATCCTGGGCGGCCGAGAGGAC 0.557 CLCNKA 1188 broad.mit.edu 37 1 16378220 16378220 + Missense_Mutation SNP G G A TCGA-14-1825-01A-01W-0643-08 TCGA-14-1825-10A-01W-0644-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0d7cb8b-995c-419b-a366-aadb156879bc 3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54 g.chr1:16378220G>A uc001axx.4 + 13 1449 c.1313G>A c.(1312-1314)cGc>cAc p.R438H CLCNKA_uc021ogl.1_Missense_Mutation_p.R85H|CLCNKA_uc021ogm.1_Missense_Mutation_p.R269H|CLCNKA_uc001axy.4_Missense_Mutation_p.R269H NM_000085 NP_000076 P51800 CLCKA_HUMAN Homo sapiens chloride channel Kb (CLCNKB), transcript variant 1, mRNA. 438 excretion chloride channel complex|integral to plasma membrane voltage-gated chloride channel activity p.R438H(1) breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1) 19 Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649) Niflumic Acid(DB04552) GCTATCGGGCGCCTCTTTGGG 0.622 SRRM1 10250 broad.mit.edu 37 1 24996658 24996658 + Missense_Mutation SNP G G A TCGA-14-1825-01A-01W-0643-08 TCGA-14-1825-10A-01W-0644-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0d7cb8b-995c-419b-a366-aadb156879bc 3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54 g.chr1:24996658G>A uc001bjm.3 + 14 2476 c.2252G>A c.(2251-2253)cGa>cAa p.R751Q SRRM1_uc010oel.2_Missense_Mutation_p.R763Q|SRRM1_uc009vri.1_Missense_Mutation_p.R680Q NM_005839 NP_005830 Q8IYB3 SRRM1_HUMAN Homo sapiens serine/arginine repetitive matrix 1 (SRRM1), mRNA. 751 Pro-rich.|Ser-rich. mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription catalytic step 2 spliceosome|cytosol|nuclear matrix|nuclear speck DNA binding|protein binding|RNA binding breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2) 36 Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19) UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138) TCATCCTCCCGATCTGTCTCC 0.532 TAL1 6886 broad.mit.edu 37 1 47685764 47685764 + Silent SNP G G A TCGA-14-1825-01A-01W-0643-08 TCGA-14-1825-10A-01W-0644-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0d7cb8b-995c-419b-a366-aadb156879bc 3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54 g.chr1:47685764G>A uc001cqx.2 - 3 1201 c.624C>T c.(622-624)gcC>gcT p.A208A TAL1_uc009vyq.2_5'UTR|TAL1_uc001cqy.2_Silent_p.A208A NM_003189 NP_003180 P17542 TAL1_HUMAN Homo sapiens T-cell acute lymphocytic leukemia 1 (TAL1), mRNA. 208 Helix-loop-helix motif. basophil differentiation|cell fate commitment|cell proliferation|embryonic hemopoiesis|erythrocyte differentiation|megakaryocyte differentiation|positive regulation of cell division|positive regulation of chromatin assembly or disassembly|positive regulation of erythrocyte differentiation|positive regulation of mitotic cell cycle|positive regulation of protein complex assembly|positive regulation of transcription from RNA polymerase II promoter nuclear chromatin E-box binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity haematopoietic_and_lymphoid_tissue(1)|lung(12)|prostate(1)|upper_aerodigestive_tract(1) 15 TGCGGAGCTCGGCAAAGGCCC 0.572 T """TRD@, SIL""" lymphoblastic leukemia/biphasic L1TD1 54596 broad.mit.edu 37 1 62675593 62675593 + Missense_Mutation SNP G G A TCGA-14-1825-01A-01W-0643-08 TCGA-14-1825-10A-01W-0644-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0d7cb8b-995c-419b-a366-aadb156879bc 3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54 g.chr1:62675593G>A uc021ooc.1 + 4 1582 c.1147G>A c.(1147-1149)Gag>Aag p.E383K L1TD1_uc001dae.4_Missense_Mutation_p.E383K NM_001164835 NP_061952 Q5T7N2 LITD1_HUMAN Homo sapiens LINE-1 type transposase domain containing 1 (L1TD1), transcript variant 1, mRNA. 383 Glu-rich. p.S382S(1) breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 35 AGAGTTTTCCGAGCTAGAGGA 0.488 PPFIA4 8497 broad.mit.edu 37 1 203029484 203029484 + Missense_Mutation SNP G G A TCGA-14-1825-01A-01W-0643-08 TCGA-14-1825-10A-01W-0644-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0d7cb8b-995c-419b-a366-aadb156879bc 3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54 g.chr1:203029484G>A uc009xaj.3 + 26 3098 c.3098G>A c.(3097-3099)cGc>cAc p.R1033H PPFIA4_uc010pqf.2_Missense_Mutation_p.R615H|PPFIA4_uc001gyz.3_Missense_Mutation_p.R402H|PPFIA4_uc001gza.3_Missense_Mutation_p.R402H|PPFIA4_uc001gzb.1_Missense_Mutation_p.R97H O75335 LIPA4_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4 (PPFIA4), mRNA. 402 cell communication cell surface|cytoplasm protein binding NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(20)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 50 CTCAAGCTCCGCCTGGCCATT 0.612 THNSL1 79896 broad.mit.edu 37 10 25313035 25313035 + Missense_Mutation SNP C C A TCGA-14-1825-01A-01W-0643-08 TCGA-14-1825-10A-01W-0644-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0d7cb8b-995c-419b-a366-aadb156879bc 3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54 g.chr10:25313035C>A uc001isi.4 + 2 1212 c.883C>A c.(883-885)Ctg>Atg p.L295M ENKUR_uc001ish.1_Intron|THNSL1_uc021pol.1_Missense_Mutation_p.L295M NM_024838 NP_079114 Q8IYQ7 THNS1_HUMAN Homo sapiens threonine synthase-like 1 (S. cerevisiae) (THNSL1), mRNA. 295 threonine biosynthetic process ATP binding|pyridoxal phosphate binding|shikimate kinase activity|threonine synthase activity NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(5)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 28 L-Threonine(DB00156)|Pyridoxal Phosphate(DB00114) AGCACAGATACTGTTGGAAAG 0.458 OR52R1 119695 broad.mit.edu 37 11 4825094 4825094 + Missense_Mutation SNP G G T TCGA-14-1825-01A-01W-0643-08 TCGA-14-1825-10A-01W-0644-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0d7cb8b-995c-419b-a366-aadb156879bc 3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54 g.chr11:4825094G>T uc021qcs.1 - 0 517 c.517C>A c.(517-519)Caa>Aaa p.Q173K NM_001005177 NP_001005177 Q8NGF1 O52R1_HUMAN Homo sapiens olfactory receptor, family 52, subfamily R, member 1 (OR52R1), mRNA. 173 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|prostate(1)|skin(3) 29 Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227) Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19) GCTTGGTGTTGGCAGAAGGGC 0.552 APBB1 322 broad.mit.edu 37 11 6424912 6424912 + Missense_Mutation SNP G G A TCGA-14-1825-01A-01W-0643-08 TCGA-14-1825-10A-01W-0644-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0d7cb8b-995c-419b-a366-aadb156879bc 3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54 g.chr11:6424912G>A uc001mdb.1 - 2 962 c.862C>T c.(862-864)Ccc>Tcc p.P288S APBB1_uc001mdd.3_Missense_Mutation_p.P68S|APBB1_uc001mdc.1_Missense_Mutation_p.P288S|APBB1_uc010rab.2_5'Flank|APBB1_uc010rad.2_5'Flank|APBB1_uc010rae.1_Missense_Mutation_p.P53S|APBB1_uc009yey.2_Missense_Mutation_p.P29S|APBB1_uc009yfa.2_Missense_Mutation_p.P29S|APBB1_uc010rag.1_Missense_Mutation_p.P29S|APBB1_uc009yfb.2_Missense_Mutation_p.P29S|APBB1_uc001mde.2_Missense_Mutation_p.P29S|APBB1_uc010rah.1_Missense_Mutation_p.P29S NM_001164 NP_001155 O00213 APBB1_HUMAN Homo sapiens amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65) (APBB1), transcript variant 1, mRNA. 288 apoptosis|axonogenesis|cell cycle arrest|histone H4 acetylation|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of thymidylate synthase biosynthetic process|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|signal transduction|transcription, DNA-dependent cytoplasm|growth cone|lamellipodium|nucleus|plasma membrane|synapse beta-amyloid binding|chromatin binding|histone binding|proline-rich region binding|transcription factor binding breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1) 24 Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029) Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194) CCCTGTGAGGGGGAGGCCCGG 0.652 OR5M1 390168 broad.mit.edu 37 11 56380529 56380529 + Missense_Mutation SNP C C T TCGA-14-1825-01A-01W-0643-08 TCGA-14-1825-10A-01W-0644-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0d7cb8b-995c-419b-a366-aadb156879bc 3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54 g.chr11:56380529C>T uc001nja.1 - 0 450 c.450G>A c.(448-450)atG>atA p.M150I OR8U8_uc001nit.2_Intron NM_001004740 NP_001004740 Q8NGP8 OR5M1_HUMAN Homo sapiens olfactory receptor, family 5, subfamily M, member 1 (OR5M1), mRNA. 150 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|upper_aerodigestive_tract(1) 12 GAAACCCATACATGTAAGGGA 0.458 NUMA1 4926 broad.mit.edu 37 11 71717105 71717105 + Missense_Mutation SNP C C T TCGA-14-1825-01A-01W-0643-08 TCGA-14-1825-10A-01W-0644-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0d7cb8b-995c-419b-a366-aadb156879bc 3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54 g.chr11:71717105C>T uc001orl.1 - 21 5840 c.5668G>A c.(5668-5670)Ggg>Agg p.G1890R NUMA1_uc001orj.2_Missense_Mutation_p.G72R|NUMA1_uc009ysw.1_Missense_Mutation_p.G1457R|NUMA1_uc001ork.1_Missense_Mutation_p.G754R|NUMA1_uc001orm.1_Missense_Mutation_p.G1876R NM_006185 NP_006176 Q14980 NUMA1_HUMAN Homo sapiens nuclear mitotic apparatus protein 1 (NUMA1), mRNA. 1890 G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole protein binding|structural molecule activity central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 65 CTGGACACCCCGGCCTGGGAA 0.592 T RARA APL ADAMTS8 11095 broad.mit.edu 37 11 130281492 130281492 + Missense_Mutation SNP C C T TCGA-14-1825-01A-01W-0643-08 TCGA-14-1825-10A-01W-0644-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0d7cb8b-995c-419b-a366-aadb156879bc 3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54 g.chr11:130281492C>T uc001qgg.4 - 5 1928 c.1570G>A c.(1570-1572)Gtg>Atg p.V524M ADAMTS8_uc001qgf.3_Missense_Mutation_p.V5M NM_007037 NP_008968 Q9UP79 ATS8_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 8 (ADAMTS8), mRNA. 524 Disintegrin. negative regulation of cell proliferation|proteolysis proteinaceous extracellular matrix heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding p.V553M(1)|p.V524M(1) central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1) 10 all_hematologic(175;0.0429) Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213) CCATCTGCCACGGGCTGCAAC 0.577 MLL2 8085 broad.mit.edu 37 12 49420539 49420539 + Nonsense_Mutation SNP A A T TCGA-14-1825-01A-01W-0643-08 TCGA-14-1825-10A-01W-0644-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0d7cb8b-995c-419b-a366-aadb156879bc 3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54 g.chr12:49420539A>T uc001rta.4 - 47 15210 c.15210T>A c.(15208-15210)taT>taA p.Y5070* NM_003482 NP_003473 O14686 MLL2_HUMAN Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 2 (MLL2), mRNA. 5070 chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent histone methyltransferase complex histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding p.R5070*(1)|p.A5069V(1) NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5) 366 CCTGGGTCTCATACACCTCCG 0.632 """N, F, Mis""" """medulloblastoma, renal""" HNSCC(34;0.089) HOXC13 3229 broad.mit.edu 37 12 54332758 54332758 + Missense_Mutation SNP C C T TCGA-14-1825-01A-01W-0643-08 TCGA-14-1825-10A-01W-0644-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0d7cb8b-995c-419b-a366-aadb156879bc 3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54 g.chr12:54332758C>T uc001sei.3 + 0 183 c.68C>T c.(67-69)gCg>gTg p.A23V NM_017410 NP_059106 P31276 HXC13_HUMAN Homo sapiens homeobox C13 (HOXC13), mRNA. 23 nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|large_intestine(1)|skin(1) 3 GAGGACAGCgcggcggagagc 0.672 T NUP98 AML MMP19 4327 broad.mit.edu 37 12 56231702 56231702 + Missense_Mutation SNP G G C TCGA-14-1825-01A-01W-0643-08 TCGA-14-1825-10A-01W-0644-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0d7cb8b-995c-419b-a366-aadb156879bc 3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54 g.chr12:56231702G>C uc001sib.3 - 6 1106 c.985C>G c.(985-987)Ctt>Gtt p.L329V MMP19_uc001sia.3_Missense_Mutation_p.L43V|MMP19_uc001sid.3_Non-coding_Transcript|MMP19_uc010spw.2_Missense_Mutation_p.P282R NM_002429 NP_002420 Q99542 MMP19_HUMAN Homo sapiens matrix metallopeptidase 19 (MMP19), transcript variant 1, mRNA. 329 Hemopexin-like 1. angiogenesis|cell differentiation|collagen catabolic process|proteolysis proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding endometrium(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(2) 26 CCCTCCCAAAGGGCAGACACT 0.542 PTPRB 5787 broad.mit.edu 37 12 70983775 70983775 + Silent SNP C C T TCGA-14-1825-01A-01W-0643-08 TCGA-14-1825-10A-01W-0644-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0d7cb8b-995c-419b-a366-aadb156879bc 3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54 g.chr12:70983775C>T uc001swb.4 - 5 1395 c.1365G>A c.(1363-1365)ttG>ttA p.L455L PTPRB_uc010sto.2_Silent_p.L455L|PTPRB_uc010stp.2_Intron|PTPRB_uc001swc.4_Silent_p.L673L|PTPRB_uc001swa.4_Silent_p.L673L|PTPRB_uc001swd.4_Silent_p.L672L|PTPRB_uc009zrr.2_Silent_p.L552L NM_002837 NP_002828 P23467 PTPRB_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, B (PTPRB), transcript variant 2, mRNA. 455 Fibronectin type-III 5. angiogenesis integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3) 107 Renal(347;0.236) GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149) CAGAATTCTTCAAATTTCCAC 0.458 OREG0021990 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) MYF6 4618 broad.mit.edu 37 12 81101567 81101567 + Silent SNP G G A TCGA-14-1825-01A-01W-0643-08 TCGA-14-1825-10A-01W-0644-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0d7cb8b-995c-419b-a366-aadb156879bc 3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54 g.chr12:81101567G>A uc001szf.2 + 0 160 c.69G>A c.(67-69)caG>caA p.Q23Q NM_002469 NP_002460 P23409 MYF6_HUMAN Homo sapiens myogenic factor 6 (herculin) (MYF6), mRNA. 23 muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|skeletal muscle tissue development nucleoplasm DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|skin(1) 26 TTACTCTGCAGCCATTAGAAG 0.517 AACS 65985 broad.mit.edu 37 12 125591804 125591804 + Missense_Mutation SNP A A C TCGA-14-1825-01A-01W-0643-08 TCGA-14-1825-10A-01W-0644-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0d7cb8b-995c-419b-a366-aadb156879bc 3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54 g.chr12:125591804A>C uc001uhc.3 + 7 1111 c.905A>C c.(904-906)cAt>cCt p.H302P AACS_uc009zyg.2_Non-coding_Transcript|AACS_uc001uhd.3_Missense_Mutation_p.H302P|AACS_uc009zyh.3_Non-coding_Transcript|AACS_uc009zyi.3_5'UTR NM_023928 NP_076417 Q86V21 AACS_HUMAN Homo sapiens acetoacetyl-CoA synthetase (AACS), mRNA. 302 fatty acid metabolic process cytosol acetoacetate-CoA ligase activity|ATP binding breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|liver(1)|lung(16)|ovary(1)|stomach(1) 26 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;9.82e-05)|Epithelial(86;0.000642)|all cancers(50;0.00843) TGCATGGTGCATTCCGCTGGG 0.607 CYSLTR2 57105 broad.mit.edu 37 13 49281611 49281611 + Missense_Mutation SNP T T A TCGA-14-1825-01A-01W-0643-08 TCGA-14-1825-10A-01W-0644-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0d7cb8b-995c-419b-a366-aadb156879bc 3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54 g.chr13:49281611T>A uc010acw.1 + 1 948 c.658T>A c.(658-660)Tgt>Agt p.C220S CYSLTR2_uc010acx.1_Missense_Mutation_p.C220S|CYSLTR2_uc010acy.1_Missense_Mutation_p.C220S|CYSLTR2_uc010acz.1_Missense_Mutation_p.C220S|CYSLTR2_uc010ada.1_Missense_Mutation_p.C220S|CYSLTR2_uc010adb.1_Missense_Mutation_p.C220S|CYSLTR2_uc010adc.1_Missense_Mutation_p.C220S|CYSLTR2_uc010add.1_Missense_Mutation_p.C220S|CYSLTR2_uc001vck.2_Missense_Mutation_p.C220S|CYSLTR2_uc021rjl.1_Missense_Mutation_p.C220S NM_020377 NP_065110 Q9NS75 CLTR2_HUMAN Homo sapiens cysteinyl leukotriene receptor 2 (CYSLTR2), mRNA. 220 immune response integral to membrane|plasma membrane endometrium(2)|large_intestine(4)|lung(12)|skin(2) 20 all_cancers(8;1.66e-53)|all_epithelial(8;1.96e-19)|all_lung(13;9.94e-09)|all_hematologic(8;7.13e-07)|Lung NSC(96;1.72e-06)|Breast(56;1.53e-05)|Acute lymphoblastic leukemia(8;6.86e-05)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0416)|Lung SC(185;0.0787) GBM - Glioblastoma multiforme(99;1.19e-09) Nedocromil(DB00716) ACTCAGCATCTGTTATCTGCT 0.478 TEX29 121793 broad.mit.edu 37 13 111995233 111995233 + Missense_Mutation SNP C C A TCGA-14-1825-01A-01W-0643-08 TCGA-14-1825-10A-01W-0644-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0d7cb8b-995c-419b-a366-aadb156879bc 3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54 g.chr13:111995233C>A uc001vsa.3 + 4 499 c.370C>A c.(370-372)Cca>Aca p.P124T NM_152324 NP_689537 Q8N6K0 CM016_HUMAN Homo sapiens chromosome 13 open reading frame 16 (C13orf16), mRNA. 124 integral to membrane TCCTGGGCCTCCAAGTGCTGG 0.577 ADPRHL1 113622 broad.mit.edu 37 13 114079397 114079397 + Silent SNP G G A TCGA-14-1825-01A-01W-0643-08 TCGA-14-1825-10A-01W-0644-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0d7cb8b-995c-419b-a366-aadb156879bc 3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54 g.chr13:114079397G>A uc001vtq.1 - 4 831 c.744C>T c.(742-744)ccC>ccT p.P248P ADPRHL1_uc001vtp.1_Silent_p.P166P NM_138430 NP_954631 Q8NDY3 ARHL1_HUMAN Homo sapiens ADP-ribosylhydrolase like 1 (ADPRHL1), transcript variant 1, mRNA. 248 protein de-ADP-ribosylation ADP-ribosylarginine hydrolase activity|magnesium ion binding endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1) 11 Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.0395)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188) all cancers(43;0.0195)|GBM - Glioblastoma multiforme(44;0.116) CATAATTGTCGGGGAAGATGG 0.438 AARS 16 broad.mit.edu 37 16 70310471 70310471 + Missense_Mutation SNP G G T TCGA-14-1825-01A-01W-0643-08 TCGA-14-1825-10A-01W-0644-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0d7cb8b-995c-419b-a366-aadb156879bc 3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54 g.chr16:70310471G>T uc002eyn.1 - 3 507 c.397C>A c.(397-399)Ctt>Att p.L133I NM_001605 NP_001596 P49588 SYAC_HUMAN Homo sapiens alanyl-tRNA synthetase (AARS), mRNA. 133 alanyl-tRNA aminoacylation|tRNA processing cytosol|soluble fraction alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding breast(3)|cervix(2)|endometrium(5)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1) 27 Ovarian(137;0.0365) BRCA - Breast invasive adenocarcinoma(221;0.161) L-Alanine(DB00160) GTAACATAAAGTCTTTCAATG 0.428 MLYCD 23417 broad.mit.edu 37 16 83933176 83933176 + Missense_Mutation SNP C C G TCGA-14-1825-01A-01W-0643-08 TCGA-14-1825-10A-01W-0644-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0d7cb8b-995c-419b-a366-aadb156879bc 3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54 g.chr16:83933176C>G uc002fgz.3 + 0 447 c.427C>G c.(427-429)Cac>Gac p.H143D NM_012213 NP_036345 O95822 DCMC_HUMAN Homo sapiens malonyl-CoA decarboxylase (MLYCD), nuclear gene encoding mitochondrial protein, mRNA. 143 acyl-CoA metabolic process|fatty acid biosynthetic process mitochondrion|peroxisome malonyl-CoA decarboxylase activity|methylmalonyl-CoA decarboxylase activity NS(1)|biliary_tract(1)|breast(1)|kidney(2)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1) 12 CCTCTTCCACCACATCAGCAA 0.731 TP53 7157 broad.mit.edu 37 17 7577094 7577094 + Missense_Mutation SNP G G A rs28934574 TCGA-14-1825-01A-01W-0643-08 TCGA-14-1825-10A-01W-0644-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0d7cb8b-995c-419b-a366-aadb156879bc 3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54 g.chr17:7577094G>A uc002gim.2 - 7 1038 c.844C>T c.(844-846)Cgg>Tgg p.R282W TP53_uc002gig.1_Intron|TP53_uc002gih.3_Missense_Mutation_p.R282W|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.R150W|TP53_uc010cnf.1_Missense_Mutation_p.R150W|TP53_uc002gii.1_Missense_Mutation_p.R150W|TP53_uc010cni.1_Missense_Mutation_p.R282W|TP53_uc010cnh.1_Missense_Mutation_p.R282W|TP53_uc002gij.2_Missense_Mutation_p.R282W|DL476366_uc021tpf.1_5'Flank|DL476309_uc021tpg.1_5'Flank|DL476358_uc021tph.1_5'Flank NM_001126112 NP_001119587 P04637 P53_HUMAN Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA. 282 Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity). DR -> EW (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in a sporadic cancer; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934574). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|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 by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.R282W(805)|p.R282G(57)|p.D281E(28)|p.D281N(26)|p.R282Q(24)|p.D281H(19)|p.R282P(16)|p.R282R(12)|p.D281Y(11)|p.D281G(10)|p.0?(8)|p.R282fs*24(7)|p.D281D(5)|p.D281fs*63(4)|p.D281V(4)|p.D281_R282>EW(4)|p.R282L(3)|p.A276_R283delACPGRDRR(2)|p.R282_E287delRRTEEE(2)|p.C275_R283delCACPGRDRR(2)|p.D281_R282insXX(2)|p.?(2)|p.L265_K305del41(2)|p.R282H(2)|p.R280_D281delRD(2)|p.V272_K292del21(2)|p.R282fs*63(2)|p.D281_R282delDR(2)|p.D281A(2)|p.D281fs*24(1)|p.R280fs*62(1)|p.G279fs*59(1)|p.F270_D281del12(1)|p.S269fs*21(1)|p.C275fs*20(1)|p.D281R(1)|p.D281>AGPY(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) TCTGTGCGCCGGTCTCTCCCA 0.557 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) TP53 7157 broad.mit.edu 37 17 7578263 7578263 + Nonsense_Mutation SNP G G A TCGA-14-1825-01A-01W-0643-08 TCGA-14-1825-10A-01W-0644-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0d7cb8b-995c-419b-a366-aadb156879bc 3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54 g.chr17:7578263G>A uc002gim.2 - 5 780 c.586C>T c.(586-588)Cga>Tga p.R196* TP53_uc002gig.1_Nonsense_Mutation_p.R196*|TP53_uc002gih.3_Nonsense_Mutation_p.R196*|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Nonsense_Mutation_p.R64*|TP53_uc010cnf.1_Nonsense_Mutation_p.R64*|TP53_uc002gii.1_Nonsense_Mutation_p.R64*|TP53_uc010cni.1_Nonsense_Mutation_p.R196*|TP53_uc010cnh.1_Nonsense_Mutation_p.R196*|TP53_uc002gij.2_Nonsense_Mutation_p.R196*|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Nonsense_Mutation_p.R103*|TP53_uc002gio.2_Nonsense_Mutation_p.R64*|TP53_uc010vug.2_Nonsense_Mutation_p.R157*|DL476358_uc021tph.1_Non-coding_Transcript NM_001126112 NP_001119587 P04637 P53_HUMAN Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA. 196 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a sporadic cancer; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|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 by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.R196*(312)|p.I195T(67)|p.I195F(18)|p.R196P(14)|p.R64*(14)|p.R103*(14)|p.I195N(12)|p.R196fs*51(12)|p.R196R(8)|p.0?(8)|p.A189_V197delAPPQHLIRV(8)|p.I195S(6)|p.?(5)|p.P191_E198>Q(4)|p.I195fs*52(4)|p.I195fs*14(4)|p.R196Q(3)|p.I195fs*12(2)|p.I195fs*50(2)|p.I195_G199delIRVEG(2)|p.K164_P219del(1)|p.R64fs*>27(1)|p.R103fs*51(1)|p.P191fs*6(1)|p.H193_I195delHLI(1)|p.P59_E66>Q(1)|p.I195M(1)|p.R196L(1)|p.P98_E105>Q(1)|p.I195L(1)|p.H193_I195>AP(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) CCTTCCACTCGGATAAGATGC 0.552 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) CACNA1G 8913 broad.mit.edu 37 17 48703853 48703854 + Frame_Shift_Ins INS - - C TCGA-14-1825-01A-01W-0643-08 TCGA-14-1825-10A-01W-0644-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0d7cb8b-995c-419b-a366-aadb156879bc 3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54 g.chr17:48703853_48703854insC uc002irk.1 + 37 7247_7248 c.6875_6876insC c.(6874-6876)ggcfs p.G2292fs CACNA1G_uc002irj.1_Frame_Shift_Ins_p.G2086fs|CACNA1G_uc002irl.1_Frame_Shift_Ins_p.G2176fs|CACNA1G_uc002irm.1_Frame_Shift_Ins_p.G2213fs|CACNA1G_uc002irn.1_Frame_Shift_Ins_p.G2158fs|CACNA1G_uc002iro.1_Frame_Shift_Ins_p.G2165fs|CACNA1G_uc002irp.1_Frame_Shift_Ins_p.G2247fs|CACNA1G_uc002irq.1_Frame_Shift_Ins_p.G2269fs|CACNA1G_uc002irr.1_Frame_Shift_Ins_p.G2199fs|CACNA1G_uc002irs.1_Frame_Shift_Ins_p.G2236fs|CACNA1G_uc002irt.1_Frame_Shift_Ins_p.G2181fs|CACNA1G_uc002iru.1_Frame_Shift_Ins_p.G2258fs|CACNA1G_uc002irv.1_Frame_Shift_Ins_p.G2188fs|CACNA1G_uc002irw.1_Frame_Shift_Ins_p.G2221fs|CACNA1G_uc002irx.1_Frame_Shift_Ins_p.G2033fs|CACNA1G_uc002iry.1_Frame_Shift_Ins_p.G2022fs|CACNA1G_uc002isg.1_Frame_Shift_Ins_p.G2060fs|CACNA1G_uc002ish.1_Frame_Shift_Ins_p.G2067fs|CACNA1G_uc002isi.1_Frame_Shift_Ins_p.G2055fs|CACNA1G_uc002irz.1_Frame_Shift_Ins_p.G2105fs|CACNA1G_uc002isa.1_Frame_Shift_Ins_p.G2078fs|CACNA1G_uc002isd.1_Frame_Shift_Ins_p.G2087fs|CACNA1G_uc002isb.1_Frame_Shift_Ins_p.G2119fs|CACNA1G_uc002isc.1_Frame_Shift_Ins_p.G2194fs|CACNA1G_uc002ise.1_Frame_Shift_Ins_p.G2115fs|CACNA1G_uc002isf.1_Frame_Shift_Ins_p.G2142fs NM_018896 NP_061496 O43497 CAC1G_HUMAN Homo sapiens calcium channel, voltage-dependent, T type, alpha 1G subunit (CACNA1G), transcript variant 1, mRNA. 2292 axon guidance voltage-gated calcium channel complex low voltage-gated calcium channel activity breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23) 47 Breast(11;6.7e-17) BRCA - Breast invasive adenocarcinoma(22;7.52e-09) Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909) AACCTTGGGGGCCAGCCTCTTG 0.653 OREG0024569 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) PPM1D 8493 broad.mit.edu 37 17 58711271 58711271 + Silent SNP C C T TCGA-14-1825-01A-01W-0643-08 TCGA-14-1825-10A-01W-0644-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0d7cb8b-995c-419b-a366-aadb156879bc 3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54 g.chr17:58711271C>T uc002iyt.2 + 2 991 c.759C>T c.(757-759)caC>caT p.H253H PPM1D_uc010ddm.2_Non-coding_Transcript NM_003620 NP_003611 O15297 PPM1D_HUMAN Homo sapiens protein phosphatase, Mg2+/Mn2+ dependent, 1D (PPM1D), mRNA. 253 PP2C-like. negative regulation of cell proliferation|protein dephosphorylation|response to radiation nucleus|protein serine/threonine phosphatase complex metal ion binding|protein binding|protein serine/threonine phosphatase activity haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 15 all_neural(34;0.0878)|Medulloblastoma(34;0.0922) Epithelial(12;6.75e-12)|all cancers(12;1.96e-10) GACTCACTCACAATGGACCTG 0.363 EMILIN2 84034 broad.mit.edu 37 18 2847912 2847912 + Silent SNP C C T TCGA-14-1825-01A-01W-0643-08 TCGA-14-1825-10A-01W-0644-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0d7cb8b-995c-419b-a366-aadb156879bc 3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54 g.chr18:2847912C>T uc002kln.3 + 1 399 c.240C>T c.(238-240)ccC>ccT p.P80P NM_032048 NP_114437 Q9BXX0 EMIL2_HUMAN Homo sapiens elastin microfibril interfacer 2 (EMILIN2), mRNA. 80 EMI. cell adhesion collagen extracellular matrix constituent conferring elasticity|protein binding breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4) 48 READ - Rectum adenocarcinoma(2;0.1) ACCAGATGCCCTGTCCGTCGG 0.662 ANKRD20A5P 440482 broad.mit.edu 37 18 14183719 14183719 + Missense_Mutation SNP G G T TCGA-14-1825-01A-01W-0643-08 TCGA-14-1825-10A-01W-0644-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0d7cb8b-995c-419b-a366-aadb156879bc 3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54 g.chr18:14183719G>T uc010xag.2 + 1 570 c.272G>T c.(271-273)tGc>tTc p.C91F ANKRD20A5P_uc002ksw.2_Non-coding_Transcript|ANKRD20A5P_uc002ksv.2_5'Flank Homo sapiens ankyrin repeat domain 20 family, member A5, pseudogene (ANKRD20A5P), non-coding RNA. lung(3) 3 AACAGAAAATGCCAGATTGAT 0.393 TCEB3C 162699 broad.mit.edu 37 18 44554653 44554653 + Nonsense_Mutation SNP G G A TCGA-14-1825-01A-01W-0643-08 TCGA-14-1825-10A-01W-0644-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0d7cb8b-995c-419b-a366-aadb156879bc 3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54 g.chr18:44554653G>A uc010xdb.2 - 0 1797 c.1561C>T c.(1561-1563)Cga>Tga p.R521* KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.3_Intron NM_145653 NP_663628 Q8NG57 ELOA3_HUMAN Homo sapiens transcription elongation factor B polypeptide 3C (elongin A3) (TCEB3C), mRNA. 521 regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to membrane|nucleus DNA binding NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(16)|skin(2) 30 GCCTGTTTTCGGGTTTTGTcc 0.652 TET3 200424 broad.mit.edu 37 2 74274539 74274539 + Missense_Mutation SNP C C T TCGA-14-1825-01A-01W-0643-08 TCGA-14-1825-10A-01W-0644-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0d7cb8b-995c-419b-a366-aadb156879bc 3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54 g.chr2:74274539C>T uc002skb.4 + 0 1090 c.1090C>T c.(1090-1092)Ccg>Tcg p.P364S TET3_uc010fez.2_Missense_Mutation_p.P364S NM_144993 NP_659430 O43151 TET3_HUMAN Homo sapiens tet methylcytosine dioxygenase 3 (TET3), mRNA. 364 metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 CTCTTCCTCCCCGGCCCCGGC 0.652 FAM123C 205147 broad.mit.edu 37 2 131521195 131521195 + Missense_Mutation SNP C C T TCGA-14-1825-01A-01W-0643-08 TCGA-14-1825-10A-01W-0644-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0d7cb8b-995c-419b-a366-aadb156879bc 3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54 g.chr2:131521195C>T uc021voy.1 + 0 1550 c.1550C>T c.(1549-1551)aCg>aTg p.T517M FAM123C_uc002trw.2_Missense_Mutation_p.T517M|FAM123C_uc010fmv.2_Missense_Mutation_p.T517M|FAM123C_uc010fms.1_Missense_Mutation_p.T517M|FAM123C_uc010fmt.1_Missense_Mutation_p.T517M|FAM123C_uc010fmu.1_Missense_Mutation_p.T517M NM_152698 NP_689911 Q8N944 F123C_HUMAN Homo sapiens family with sequence similarity 123C (FAM123C), transcript variant 1, mRNA. 517 breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(43)|ovary(2)|pancreas(4)|prostate(3)|skin(8) 73 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.13) CGAGGCCCCACGCCCCGTGCC 0.687 THSD7B 80731 broad.mit.edu 37 2 137988713 137988713 + Missense_Mutation SNP C C T rs61741154 TCGA-14-1825-01A-01W-0643-08 TCGA-14-1825-10A-01W-0644-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0d7cb8b-995c-419b-a366-aadb156879bc 3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54 g.chr2:137988713C>T uc002tva.1 + 6 1730 c.1730C>T c.(1729-1731)aCg>aTg p.T577M THSD7B_uc010zbj.1_Intron|THSD7B_uc002tvb.3_Missense_Mutation_p.T467M NM_001080427 NP_001073896 Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA. p.T608M(1) NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 134 BRCA - Breast invasive adenocarcinoma(221;0.19) AGCGAGTGGACGGAGTGGTCA 0.517 XIRP2 129446 broad.mit.edu 37 2 168101235 168101235 + Silent SNP G G A TCGA-14-1825-01A-01W-0643-08 TCGA-14-1825-10A-01W-0644-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0d7cb8b-995c-419b-a366-aadb156879bc 3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54 g.chr2:168101235G>A uc002udx.3 + 8 3422 c.3333G>A c.(3331-3333)tcG>tcA p.S1111S XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Silent_p.S936S|XIRP2_uc010fpq.3_Silent_p.S889S|XIRP2_uc010fpr.3_Intron NM_152381 NP_689594 A4UGR9 XIRP2_HUMAN Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA. 936 actin cytoskeleton organization cell junction actin binding NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 AAAAAGTTTCGTTAATGACCA 0.368 TTN 7273 broad.mit.edu 37 2 179647001 179647001 + Silent SNP G G A rs141768043 TCGA-14-1825-01A-01W-0643-08 TCGA-14-1825-10A-01W-0644-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0d7cb8b-995c-419b-a366-aadb156879bc 3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54 g.chr2:179647001G>A uc021vsy.1 - 19 3543 c.3318C>T c.(3316-3318)ggC>ggT p.G1106G TTN_uc021vsz.1_Silent_p.G1060G|TTN_uc021vta.1_Silent_p.G1060G|TTN_uc021vtb.1_Silent_p.G1060G|TTN_uc002unb.2_Silent_p.G1106G NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 1106 Ig-like 4. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TTGGGTTGCCGCCAACTTGGC 0.488 BPIFA2 140683 broad.mit.edu 37 20 31760743 31760743 + Missense_Mutation SNP C C A TCGA-14-1825-01A-01W-0643-08 TCGA-14-1825-10A-01W-0644-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0d7cb8b-995c-419b-a366-aadb156879bc 3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54 g.chr20:31760743C>A uc002wyo.1 + 2 234 c.163C>A c.(163-165)Ctt>Att p.L55I NM_080574 NP_542141 Q96DR5 SPLC2_HUMAN Homo sapiens BPI fold containing family A, member 2 (BPIFA2), mRNA. 55 extracellular region lipid binding GGCAGGCATCCTTGAGAAACT 0.483 TRPC4AP 26133 broad.mit.edu 37 20 33591328 33591328 + Missense_Mutation SNP C C T rs146813768 TCGA-14-1825-01A-01W-0643-08 TCGA-14-1825-10A-01W-0644-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0d7cb8b-995c-419b-a366-aadb156879bc 3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54 g.chr20:33591328C>T uc002xbk.3 - 17 2175 c.2141G>A c.(2140-2142)cGg>cAg p.R714Q TRPC4AP_uc002xbj.3_Non-coding_Transcript|TRPC4AP_uc010zuq.2_Missense_Mutation_p.R305Q|TRPC4AP_uc010zur.2_Missense_Mutation_p.R675Q|TRPC4AP_uc002xbl.3_Missense_Mutation_p.R706Q NM_015638 NP_056453 Q8TEL6 TP4AP_HUMAN Homo sapiens transient receptor potential cation channel, subfamily C, member 4 associated protein (TRPC4AP), transcript variant 1, mRNA. 714 protein ubiquitination|ubiquitin-dependent protein catabolic process Cul4A-RING ubiquitin ligase complex protein binding breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|skin(1)|stomach(1)|urinary_tract(1) 32 BRCA - Breast invasive adenocarcinoma(18;0.00936) GTGCTCCATCCGCTGCAGCAG 0.612 TSHZ2 128553 broad.mit.edu 37 20 51870234 51870234 + Silent SNP C C T TCGA-14-1825-01A-01W-0643-08 TCGA-14-1825-10A-01W-0644-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0d7cb8b-995c-419b-a366-aadb156879bc 3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54 g.chr20:51870234C>T uc002xwo.3 + 1 1124 c.237C>T c.(235-237)gcC>gcT p.A79A TSHZ2_uc021wex.1_Silent_p.A76A NM_173485 NP_775756 Q9NRE2 TSH2_HUMAN Homo sapiens teashirt zinc finger homeobox 2 (TSHZ2), transcript variant 1, mRNA. 79 multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.D78N(1) 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) ATCAGGATGCCGAGAACGAGT 0.537 MC3R 4159 broad.mit.edu 37 20 54824418 54824418 + Silent SNP C C T TCGA-14-1825-01A-01W-0643-08 TCGA-14-1825-10A-01W-0644-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0d7cb8b-995c-419b-a366-aadb156879bc 3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54 g.chr20:54824418C>T uc002xxb.2 + 0 631 c.519C>T c.(517-519)ggC>ggT p.G173G NM_019888 NP_063941 P41968 MC3R_HUMAN Homo sapiens melanocortin 3 receptor (MC3R), mRNA. 210 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|positive regulation of cAMP biosynthetic process integral to plasma membrane melanocyte-stimulating hormone receptor activity|neuropeptide binding|protein binding breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(3)|skin(1) 26 Colorectal(105;0.202) TCTGCTGCGGCGTCTGTGGCG 0.562 BAGE 85319 broad.mit.edu 37 21 11058294 11058294 + Missense_Mutation SNP G G A TCGA-14-1825-01A-01W-0643-08 TCGA-14-1825-10A-01W-0644-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0d7cb8b-995c-419b-a366-aadb156879bc 3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54 g.chr21:11058294G>A uc002yiu.1 - 2 BAGE_uc002yit.1_Missense_Mutation_p.P49L|BAGE_uc002yiv.1_3'UTR|BAGE_uc002yiw.1_Non-coding_Transcript NM_182484 NP_872290 Q13072 BAGE1_HUMAN Homo sapiens B melanoma antigen family, member 5 (BAGE5), mRNA. extracellular region Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) ATTTGATAGTGGCTCCAAAGT 0.403 ACR 49 broad.mit.edu 37 22 51183292 51183292 + Missense_Mutation SNP G G A TCGA-14-1825-01A-01W-0643-08 TCGA-14-1825-10A-01W-0644-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0d7cb8b-995c-419b-a366-aadb156879bc 3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54 g.chr22:51183292G>A uc003bnh.4 + 4 935 c.923G>A c.(922-924)cGa>cAa p.R308Q NM_001097 NP_001088 P10323 ACRO_HUMAN Homo sapiens acrosin (ACR), mRNA. 308 acrosome matrix dispersal|activation of adenylate cyclase activity acrosomal matrix|protein complex amidase activity|copper ion binding|DNA binding|drug binding|fucose binding|mannose binding|protein binding|serine-type endopeptidase activity|zinc ion binding endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|skin(1) 7 all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;1.1e-06)|LUAD - Lung adenocarcinoma(64;0.247) CCCACCACTCGACCGCCCCCG 0.602 METTL6 131965 broad.mit.edu 37 3 15468122 15468122 + Translation_Start_Site SNP C C T rs140376877 by1000genomes TCGA-14-1825-01A-01W-0643-08 TCGA-14-1825-10A-01W-0644-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0d7cb8b-995c-419b-a366-aadb156879bc 3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54 g.chr3:15468122C>T uc003bzs.1 - 1 METTL6_uc011avp.1_5'UTR|METTL6_uc003bzt.1_5'UTR|EAF1_uc003bzu.3_5'Flank|EAF1_uc011avq.2_5'Flank NM_152396 NP_689609 Q8TCB7 METL6_HUMAN Homo sapiens methyltransferase like 6 (METTL6), mRNA. methyltransferase activity endometrium(1)|kidney(1)|large_intestine(9)|lung(3)|prostate(1) 15 GTGAGTTTCACGCCTCAAACA 0.418 TIPARP 25976 broad.mit.edu 37 3 156422618 156422618 + Missense_Mutation SNP A A G TCGA-14-1825-01A-01W-0643-08 TCGA-14-1825-10A-01W-0644-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0d7cb8b-995c-419b-a366-aadb156879bc 3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54 g.chr3:156422618A>G uc003fav.3 + 5 2094 c.1672A>G c.(1672-1674)Atg>Gtg p.M558V TIPARP_uc003faw.3_Missense_Mutation_p.M558V|TIPARP_uc021xgg.1_Missense_Mutation_p.M558V NM_015508 NP_056323 Q7Z3E1 PARPT_HUMAN Homo sapiens TCDD-inducible poly(ADP-ribose) polymerase (TIPARP), transcript variant 2, mRNA. 558 PARP catalytic. NAD+ ADP-ribosyltransferase activity|nucleic acid binding|protein binding|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(2) 23 LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465) GCATGCTACAATGTTTGGACA 0.408 VPS8 23355 broad.mit.edu 37 3 184648300 184648300 + Missense_Mutation SNP G G A TCGA-14-1825-01A-01W-0643-08 TCGA-14-1825-10A-01W-0644-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0d7cb8b-995c-419b-a366-aadb156879bc 3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54 g.chr3:184648300G>A uc021xik.1 + 32 2930 c.2842G>A c.(2842-2844)Gga>Aga p.G948R VPS8_uc003fpb.1_Missense_Mutation_p.G946R|VPS8_uc010hyd.1_Missense_Mutation_p.G856R|VPS8_uc010hye.1_Missense_Mutation_p.G375R NM_001009921 NP_001009921 Q8N3P4 VPS8_HUMAN Homo sapiens vacuolar protein sorting 8 homolog (S. cerevisiae) (VPS8), transcript variant 1, mRNA. 948 zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 54 all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247) Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22) ATCCATTCCCGGACACAGTGC 0.393 CABS1 85438 broad.mit.edu 37 4 71201281 71201281 + Silent SNP C C T TCGA-14-1825-01A-01W-0643-08 TCGA-14-1825-10A-01W-0644-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0d7cb8b-995c-419b-a366-aadb156879bc 3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54 g.chr4:71201281C>T uc003hff.3 + 0 611 c.525C>T c.(523-525)gaC>gaT p.D175D CABS1_uc021xoz.1_Silent_p.D175D NM_033122 NP_149113 Q96KC9 CABS1_HUMAN Homo sapiens calcium-binding protein, spermatid-specific 1 (CABS1), mRNA. 175 flagellum calcium ion binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(4)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 GTGTTGCTGACGCTCCTGCCT 0.463 FGG 2266 broad.mit.edu 37 4 155528020 155528020 + Silent SNP G G A rs146218442 TCGA-14-1825-01A-01W-0643-08 TCGA-14-1825-10A-01W-0644-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0d7cb8b-995c-419b-a366-aadb156879bc 3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54 g.chr4:155528020G>A uc003ioj.3 - 7 1107 c.966C>T c.(964-966)ggC>ggT p.G322G FGG_uc003iog.3_Silent_p.G322G NM_021870 NP_068656 P02679 FIBG_HUMAN Homo sapiens fibrinogen gamma chain (FGG), transcript variant gamma-B, mRNA. 322 Fibrinogen C-terminal. platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen eukaryotic cell surface binding|protein binding, bridging|receptor binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 all_hematologic(180;0.215) Renal(120;0.0458) Sucralfate(DB00364) TAGGATCATCGCCAAAATCAA 0.473 NKD2 85409 broad.mit.edu 37 5 1033572 1033572 + Silent SNP C C G TCGA-14-1825-01A-01W-0643-08 TCGA-14-1825-10A-01W-0644-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0d7cb8b-995c-419b-a366-aadb156879bc 3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54 g.chr5:1033572C>G uc003jbt.1 + 4 293 c.288C>G c.(286-288)cgC>cgG p.R96R NKD2_uc010itf.1_Silent_p.R96R NM_033120 NP_149111 Q969F2 NKD2_HUMAN Homo sapiens naked cuticle homolog 2 (Drosophila) (NKD2), mRNA. 96 Targeting to the basolateral cell membrane. exocytosis|Wnt receptor signaling pathway cytoplasmic membrane-bounded vesicle|plasma membrane calcium ion binding|ubiquitin protein ligase binding breast(1)|central_nervous_system(3)|large_intestine(1)|lung(8)|pancreas(1) 14 Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;3.28e-09) Epithelial(17;0.00093)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00417)|Lung(60;0.165) CAGCAAACCGCGAGGGCCCGC 0.692 PCDHGC5 56103 broad.mit.edu 37 5 140741624 140741624 + Missense_Mutation SNP G G A TCGA-14-1825-01A-01W-0643-08 TCGA-14-1825-10A-01W-0644-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0d7cb8b-995c-419b-a366-aadb156879bc 3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54 g.chr5:140741624G>A uc003ljs.2 + 0 1922 c.1922G>A c.(1921-1923)cGc>cAc p.R641H PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003lju.2_5'Flank|PCDHGC5_uc011dar.2_Missense_Mutation_p.R641H|PCDHGC5_uc011das.2_5'Flank NM_018923 NP_061746 Q9Y5F6 PCDGM_HUMAN Homo sapiens protocadherin gamma subfamily B, 2 (PCDHGB2), transcript variant 1, mRNA. 643 Cadherin 6. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2) 35 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCCCGCCAGCGCCTGCTGGTC 0.687 KIF4B 285643 broad.mit.edu 37 5 154396976 154396976 + Missense_Mutation SNP C C A TCGA-14-1825-01A-01W-0643-08 TCGA-14-1825-10A-01W-0644-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0d7cb8b-995c-419b-a366-aadb156879bc 3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54 g.chr5:154396976C>A uc010jih.1 + 0 3717 c.3557C>A c.(3556-3558)gCt>gAt p.A1186D NM_001099293 NP_001092763 Q2VIQ3 KIF4B_HUMAN Homo sapiens kinesin family member 4B (KIF4B), mRNA. 1186 Globular (By similarity).|Interaction with PRC1 (By similarity). axon guidance|blood coagulation|microtubule-based movement cytosol|microtubule|nuclear matrix ATP binding|DNA binding|microtubule motor activity breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1) 58 Renal(175;0.00488) Medulloblastoma(196;0.0523) KIRC - Kidney renal clear cell carcinoma(527;0.00112) ACTGCTCCAGCTCCCTCCCCT 0.493 DUSP22 56940 broad.mit.edu 37 6 335117 335117 + Missense_Mutation SNP G G T TCGA-14-1825-01A-01W-0643-08 TCGA-14-1825-10A-01W-0644-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0d7cb8b-995c-419b-a366-aadb156879bc 3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54 g.chr6:335117G>T uc003msx.3 + 3 581 c.142G>T c.(142-144)Gtt>Ttt p.V48F DUSP22_uc011dhn.1_Missense_Mutation_p.V48F|DUSP22_uc003msy.1_Missense_Mutation_p.V5F NM_020185 NP_064570 Q9NRW4 DUS22_HUMAN Homo sapiens dual specificity phosphatase 22 (DUSP22), mRNA. 48 apoptosis|cell proliferation|inactivation of MAPK activity|multicellular organismal development|positive regulation of JNK cascade|regulation of cell proliferation|transforming growth factor beta receptor signaling pathway cytoplasm|nucleus protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(2) 26 all_hematologic(77;0.228) Breast(5;0.0249)|all_hematologic(90;0.0489) OV - Ovarian serous cystadenocarcinoma(45;0.0277)|BRCA - Breast invasive adenocarcinoma(62;0.0669) TCTGCAGGGAGTTAAATACCT 0.299 HFE 3077 broad.mit.edu 37 6 26091215 26091215 + Missense_Mutation SNP G G A TCGA-14-1825-01A-01W-0643-08 TCGA-14-1825-10A-01W-0644-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0d7cb8b-995c-419b-a366-aadb156879bc 3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54 g.chr6:26091215G>A uc003nfx.1 + 1 383 c.223G>A c.(223-225)Gtt>Att p.V75I HFE_uc003nfy.1_Missense_Mutation_p.V52I|HFE_uc010jqe.1_Missense_Mutation_p.V75I|HFE_uc003nfz.1_Intron|HFE_uc003ngd.1_Intron|HFE_uc003nga.1_Missense_Mutation_p.V75I|HFE_uc003ngb.1_Missense_Mutation_p.V75I|HFE_uc003ngc.1_Missense_Mutation_p.V75I|HFE_uc003nge.1_Intron|HFE_uc003ngf.1_Intron|HFE_uc021yms.1_5'Flank NM_000410 NP_000401 Q30201 HFE_HUMAN Homo sapiens hemochromatosis (HFE), transcript variant 1, mRNA. 75 Alpha-1. antigen processing and presentation of peptide antigen via MHC class I|cellular iron ion homeostasis|immune response|iron ion transport|protein complex assembly|receptor-mediated endocytosis apical part of cell|basal part of cell|cytoplasmic vesicle|early endosome|integral to plasma membrane|MHC class I protein complex|perinuclear region of cytoplasm|recycling endosome protein binding endometrium(3)|large_intestine(3)|liver(2)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 AACTCCATGGGTTTCCAGTAG 0.488 Hemochromatosis C6orf170 221322 broad.mit.edu 37 6 121625568 121625568 + Missense_Mutation SNP C C T TCGA-14-1825-01A-01W-0643-08 TCGA-14-1825-10A-01W-0644-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0d7cb8b-995c-419b-a366-aadb156879bc 3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54 g.chr6:121625568C>T uc003pyo.1 - 7 946 c.878G>A c.(877-879)cGt>cAt p.R293H C6orf170_uc003pyq.1_Non-coding_Transcript NM_152730 NP_689943 Q96NH3 BROMI_HUMAN Homo sapiens chromosome 6 open reading frame 170 (C6orf170), mRNA. 293 multicellular organismal development cilium|cytoplasm Rab GTPase activator activity NS(1)|breast(4)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1) 55 GBM - Glioblastoma multiforme(226;0.00521) ATTTAGAAGACGAACCTACAA 0.358 RBAK 57786 broad.mit.edu 37 7 5097035 5097035 + Missense_Mutation SNP G G A TCGA-14-1825-01A-01W-0643-08 TCGA-14-1825-10A-01W-0644-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0d7cb8b-995c-419b-a366-aadb156879bc 3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54 g.chr7:5097035G>A uc021zzc.1 + 2 307 c.125G>A c.(124-126)aGc>aAc p.S42N RBAK_uc003snr.3_Missense_Mutation_p.S42N|RBAK_uc010kss.1_Missense_Mutation_p.S42N|RBAK_uc003sns.1_Missense_Mutation_p.S42N NM_001204513 NP_001191442 Q9NYW8 RBAK_HUMAN Homo sapiens RBAK-LOC389458 readthrough (RBAK-LOC389458), mRNA. 42 KRAB. negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding NS(1)|kidney(1)|large_intestine(2)|ovary(4)|skin(1)|upper_aerodigestive_tract(1) 10 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.0916)|OV - Ovarian serous cystadenocarcinoma(56;2.44e-14) GAGAACTATAGCCATCTAGTT 0.433 MGAM 8972 broad.mit.edu 37 7 141759688 141759688 + Silent SNP T T C TCGA-14-1825-01A-01W-0643-08 TCGA-14-1825-10A-01W-0644-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0d7cb8b-995c-419b-a366-aadb156879bc 3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54 g.chr7:141759688T>C uc003vwy.3 + 32 4035 c.3981T>C c.(3979-3981)ccT>ccC p.P1327P NM_004668 NP_004659 O43451 MGA_HUMAN Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA. 1327 Glucoamylase. polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity p.P1327P(2) cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2) 13 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) AGACACAGCCTTATCCTGCCT 0.463 PDGFRL 5157 broad.mit.edu 37 8 17447275 17447275 + Splice_Site SNP G G A TCGA-14-1825-01A-01W-0643-08 TCGA-14-1825-10A-01W-0644-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0d7cb8b-995c-419b-a366-aadb156879bc 3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54 g.chr8:17447275G>A uc003wxr.3 + 3 798 c.353_splice c.e3+1 p.S118_splice NM_006207 NP_006198 Q15198 PGFRL_HUMAN Homo sapiens platelet-derived growth factor receptor-like (PDGFRL), mRNA. 118 Ig-like C2-type 1. extracellular region platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5) 9 Colorectal(111;0.0752) CTCGCCTCAGGTAAGCATTTT 0.403 RANBP6 26953 broad.mit.edu 37 9 6014248 6014248 + Missense_Mutation SNP G G T TCGA-14-1825-01A-01W-0643-08 TCGA-14-1825-10A-01W-0644-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0d7cb8b-995c-419b-a366-aadb156879bc 3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54 g.chr9:6014248G>T uc003zjr.3 - 0 1393 c.1360C>A c.(1360-1362)Ctg>Atg p.L454M RANBP6_uc011lmf.2_Missense_Mutation_p.L102M|RANBP6_uc003zjs.3_3'UTR NM_012416 NP_036548 O60518 RNBP6_HUMAN Homo sapiens RAN binding protein 6 (RANBP6), transcript variant 1, mRNA. 454 protein transport cytoplasm|nucleus binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(5)|large_intestine(8)|lung(9)|ovary(7)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 51 Acute lymphoblastic leukemia(23;0.158) GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101) GTACGTAACAGAGCTGCAATC 0.413 PLIN2 123 broad.mit.edu 37 9 19120899 19120899 + Missense_Mutation SNP G G A TCGA-14-1825-01A-01W-0643-08 TCGA-14-1825-10A-01W-0644-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0d7cb8b-995c-419b-a366-aadb156879bc 3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54 g.chr9:19120899G>A uc003zno.3 - 4 784 c.574C>T c.(574-576)Cct>Tct p.P192S PLIN2_uc011lna.2_Missense_Mutation_p.P164S|PLIN2_uc011lnb.2_Intron NM_001122 NP_001113 Q99541 PLIN2_HUMAN Homo sapiens perilipin 2 (PLIN2), transcript variant 1, mRNA. 192 cellular lipid metabolic process endoplasmic reticulum|extracellular region|lipid particle breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1) 19 TCAGTGAGAGGGAGGTACTGT 0.403 TMOD1 7111 broad.mit.edu 37 9 100353675 100353675 + Missense_Mutation SNP C C T TCGA-14-1825-01A-01W-0643-08 TCGA-14-1825-10A-01W-0644-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0d7cb8b-995c-419b-a366-aadb156879bc 3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54 g.chr9:100353675C>T uc004axl.2 + 8 1109 c.973C>T c.(973-975)Cgg>Tgg p.R325W TMOD1_uc004axk.2_Missense_Mutation_p.R325W NM_001166116 NP_003266 P28289 TMOD1_HUMAN Homo sapiens tropomodulin 1 (TMOD1), transcript variant 2, mRNA. 325 muscle filament sliding cytosol actin binding breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(2)|urinary_tract(1) 11 Acute lymphoblastic leukemia(62;0.154) STAD - Stomach adenocarcinoma(157;0.105) GCAAGGACCCCGGCTTCGGGC 0.512 SLC44A1 23446 broad.mit.edu 37 9 108110683 108110683 + Missense_Mutation SNP A A G TCGA-14-1825-01A-01W-0643-08 TCGA-14-1825-10A-01W-0644-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0d7cb8b-995c-419b-a366-aadb156879bc 3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54 g.chr9:108110683A>G uc004bcn.3 + 4 672 c.451A>G c.(451-453)Aca>Gca p.T151A NM_080546 NP_536856 Q8WWI5 CTL1_HUMAN Homo sapiens solute carrier family 44, member 1 (SLC44A1), mRNA. 151 integral to membrane|mitochondrial outer membrane|plasma membrane choline transmembrane transporter activity breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 38 Choline(DB00122) TGAATACACTACATCTCCAAA 0.373 CELP 1057 broad.mit.edu 37 9 135961760 135961760 + Missense_Mutation SNP G G C TCGA-14-1825-01A-01W-0643-08 TCGA-14-1825-10A-01W-0644-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0d7cb8b-995c-419b-a366-aadb156879bc 3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54 g.chr9:135961760G>C uc011mcu.1 + 3 595 c.502G>C c.(502-504)Gcc>Ccc p.A168P Homo sapiens carboxyl ester lipase pseudogene (CELP), non-coding RNA. GGAGCCCTTTGCCACCCCACT 0.577 MED22 6837 broad.mit.edu 37 9 136211100 136211100 + Missense_Mutation SNP A A G TCGA-14-1825-01A-01W-0643-08 TCGA-14-1825-10A-01W-0644-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0d7cb8b-995c-419b-a366-aadb156879bc 3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54 g.chr9:136211100A>G uc004cdc.3 - 3 527 c.293T>C c.(292-294)aTt>aCt p.I98T MED22_uc004cdd.3_Missense_Mutation_p.I98T NM_133640 NP_598395 Q15528 MED22_HUMAN Homo sapiens mediator complex subunit 22 (MED22), transcript variant b, mRNA. 98 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|mediator complex|soluble fraction protein binding p.A97V(1) endometrium(1)|large_intestine(1)|ovary(1)|urinary_tract(1) 4 OV - Ovarian serous cystadenocarcinoma(145;1.14e-06)|Epithelial(140;8.2e-06)|all cancers(34;6.94e-05) GCGCTGGTCAATGGCCTCGTT 0.602 CFP 5199 broad.mit.edu 37 X 47486279 47486279 + Missense_Mutation SNP G G T TCGA-14-1825-01A-01W-0643-08 TCGA-14-1825-10A-01W-0644-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0d7cb8b-995c-419b-a366-aadb156879bc 3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54 g.chrX:47486279G>T uc004dih.3 - 6 1075 c.833C>A c.(832-834)aCc>aAc p.T278N CFP_uc004dig.4_Missense_Mutation_p.T278N|CFP_uc004dii.1_Missense_Mutation_p.T214N|CFP_uc010nhu.2_Missense_Mutation_p.T278N NM_002621 NP_002612 P27918 PROP_HUMAN Homo sapiens complement factor properdin (CFP), transcript variant 1, mRNA. 278 TSP type-1 4. complement activation, alternative pathway|defense response to bacterium extracellular space p.Q277H(1) breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1) 18 TTGTTCCATGGTCTGGCCCAG 0.662 SLC35A2 7355 broad.mit.edu 37 X 48762551 48762552 + Frame_Shift_Del DEL GA GA - TCGA-14-1825-01A-01W-0643-08 TCGA-14-1825-10A-01W-0644-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0d7cb8b-995c-419b-a366-aadb156879bc 3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54 g.chrX:48762551_48762552delGA uc011mmm.1 - 4 1040_1041 c.718_719delTC c.(718-720)tccfs p.S240fs SLC35A2_uc004dlo.1_Frame_Shift_Del_p.S212fs|SLC35A2_uc011mml.1_Frame_Shift_Del_p.S225fs|SLC35A2_uc004dlp.1_Frame_Shift_Del_p.S212fs|SLC35A2_uc011mmn.1_Frame_Shift_Del_p.S151fs|SLC35A2_uc004dlq.3_Intron|SLC35A2_uc004dlr.1_Intron NM_001042498 NP_001035963 P78381 S35A2_HUMAN Homo sapiens solute carrier family 35 (UDP-galactose transporter), member A2 (SLC35A2), transcript variant 3, mRNA. 212 galactose metabolic process Golgi membrane|integral to membrane|nucleus sugar:hydrogen symporter activity|UDP-galactose transmembrane transporter activity breast(1)|endometrium(4)|kidney(2)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(2) 15 GAAGCCGGAGGAGAGACAGGAG 0.649 ITIH6 347365 broad.mit.edu 37 X 54777770 54777770 + Silent SNP C C T TCGA-14-1825-01A-01W-0643-08 TCGA-14-1825-10A-01W-0644-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0d7cb8b-995c-419b-a366-aadb156879bc 3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54 g.chrX:54777770C>T uc004dtj.2 - 11 3426 c.3396G>A c.(3394-3396)ccG>ccA p.P1132P NM_198510 NP_940912 Q6UXX5 ITH5L_HUMAN Homo sapiens inter-alpha-trypsin inhibitor heavy chain family, member 6 (ITIH6), mRNA. 1132 hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity CCTTGTGGCCCGGCCTTGGTG 0.572 DCAF12L1 139170 broad.mit.edu 37 X 125685588 125685588 + Missense_Mutation SNP C C T TCGA-14-1825-01A-01W-0643-08 TCGA-14-1825-10A-01W-0644-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0d7cb8b-995c-419b-a366-aadb156879bc 3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54 g.chrX:125685588C>T uc022cds.1 - 0 1004 c.1004G>A c.(1003-1005)cGc>cAc p.R335H DCAF12L1_uc004eul.3_Missense_Mutation_p.R335H NM_178470 NP_848565 Q5VU92 DC121_HUMAN Homo sapiens DDB1 and CUL4 associated factor 12-like 1 (DCAF12L1), mRNA. 335 breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 68 CTGGTCCTGGCGCAGATCCAG 0.597 MAGEA10 4109 broad.mit.edu 37 X 151303380 151303380 + Missense_Mutation SNP C C T TCGA-14-1825-01A-01W-0643-08 TCGA-14-1825-10A-01W-0644-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0d7cb8b-995c-419b-a366-aadb156879bc 3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54 g.chrX:151303380C>T uc022cgz.1 - 0 713 c.713G>A c.(712-714)gGc>gAc p.G238D MAGEA5_uc022cgy.1_Intron|MAGEA10_uc004ffk.3_Missense_Mutation_p.G238D|MAGEA10_uc004ffm.2_Missense_Mutation_p.G238D|MAGEA10_uc004ffl.3_Missense_Mutation_p.G238D NM_021048 NP_066386 P43363 MAGAA_HUMAN Homo sapiens melanoma antigen family A, 10 (MAGEA10), transcript variant 2, mRNA. 238 MAGE. endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 Acute lymphoblastic leukemia(192;6.56e-05) GGTGCAGTAGCCCTCTATGAA 0.527