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 ITSN2 50618 broad.mit.edu 37 2 24438918 24438918 + Splice_Site SNP C C T TCGA-N5-A4RA-01A-11D-A28R-08 TCGA-N5-A4RA-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3dc3c63-8571-457e-b20e-775f7fd21b7b 81db3ca2-9fc2-41e6-8d59-f99d874a163d g.chr2:24438918C>T ENST00000355123.4 - 32 4433 c.3990_splice c.e32+1 p.K1330_splice ITSN2_ENST00000361999.3_Splice_Site_p.K1303_splice|AC009228.1_ENST00000413254.1_RNA|AC009228.1_ENST00000413989.1_RNA|AC009228.1_ENST00000430105.1_RNA NM_006277.2 NP_006268.2 Q9NZM3 ITSN2_HUMAN intersectin 2 1330 DH. endocytosis|regulation of Rho protein signal transduction cytoplasm calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1) 61 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) ATGGAATTACCTTTAAAAATT 0.498000 35 26 0 0 1 0 0 SPTB 6710 broad.mit.edu 37 14 65253730 65253730 + Missense_Mutation SNP G G A TCGA-N5-A4RA-01A-11D-A28R-08 TCGA-N5-A4RA-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3dc3c63-8571-457e-b20e-775f7fd21b7b 81db3ca2-9fc2-41e6-8d59-f99d874a163d g.chr14:65253730G>A ENST00000389722.3 - 15 3006 c.2953C>T c.(2953-2955)Cgg>Tgg p.R985W SPTB_ENST00000556626.1_Missense_Mutation_p.R985W|SPTB_ENST00000542895.1_Missense_Mutation_p.R985W|SPTB_ENST00000389720.3_Missense_Mutation_p.R985W|SPTB_ENST00000389721.5_Missense_Mutation_p.R985W NM_001024858.2 NP_001020029.1 P11277 SPTB1_HUMAN spectrin, beta, erythrocytic 985 actin filament capping|axon guidance cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton actin filament binding|structural constituent of cytoskeleton breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3) 106 all_lung(585;4.15e-09) all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628) GCCAGGTCCCGCCCCAGGTCT 0.602000 28 42 0 0 1 0 0 RUNX2 860 broad.mit.edu 37 6 45390482 45390482 + Missense_Mutation SNP C C G TCGA-N5-A4RA-01A-11D-A28R-08 TCGA-N5-A4RA-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3dc3c63-8571-457e-b20e-775f7fd21b7b 81db3ca2-9fc2-41e6-8d59-f99d874a163d g.chr6:45390482C>G ENST00000371438.1 + 2 569 c.211C>G c.(211-213)Cag>Gag p.Q71E RUNX2_ENST00000465038.2_Missense_Mutation_p.Q71E|RUNX2_ENST00000352853.5_Missense_Mutation_p.Q139E|RUNX2_ENST00000371432.3_Missense_Mutation_p.Q57E|RUNX2_ENST00000371436.6_Missense_Mutation_p.Q71E|RUNX2_ENST00000576263.1_Missense_Mutation_p.Q71E|RUNX2_ENST00000541979.1_Missense_Mutation_p.Q139E|RUNX2_ENST00000359524.5_Missense_Mutation_p.Q57E NM_001024630.3 NP_001019801.3 Q13950 RUNX2_HUMAN runt-related transcription factor 2 71 Poly-Gln. negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent nucleus ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 34 gcagcagcagcaggaggcggc 0.716000 3 47 0 0 1 0 0 SPATA8 145946 broad.mit.edu 37 15 97326808 97326808 + Translation_Start_Site SNP A A T TCGA-N5-A4RA-01A-11D-A28R-08 TCGA-N5-A4RA-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3dc3c63-8571-457e-b20e-775f7fd21b7b 81db3ca2-9fc2-41e6-8d59-f99d874a163d g.chr15:97326808A>T ENST00000328504.3 + 0 190 SPATA8_ENST00000558553.1_De_novo_Start_InFrame NM_173499.3 NP_775770.1 Q6RVD6 SPAT8_HUMAN spermatogenesis associated 8 large_intestine(4)|lung(8)|ovary(1)|skin(3) 16 Melanoma(26;0.0142)|Lung NSC(78;0.041)|all_lung(78;0.0468) OV - Ovarian serous cystadenocarcinoma(32;0.0718) CGCTAAGCCCAGGGATCCACT 0.567000 3 50 0 0 1 0 0 MAP3K11 4296 broad.mit.edu 37 11 65380919 65380919 + Silent SNP A A C TCGA-N5-A4RA-01A-11D-A28R-08 TCGA-N5-A4RA-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3dc3c63-8571-457e-b20e-775f7fd21b7b 81db3ca2-9fc2-41e6-8d59-f99d874a163d g.chr11:65380919A>C ENST00000309100.3 - 1 794 c.309T>G c.(307-309)ggT>ggG p.G103G NM_002419.3 NP_002410.1 Q16584 M3K11_HUMAN mitogen-activated protein kinase kinase kinase 11 103 Gly-rich.|SH3. activation of JUN kinase activity|cell proliferation|G1 phase of mitotic cell cycle|microtubule-based process|positive regulation of JNK cascade|protein autophosphorylation centrosome|microtubule ATP binding|JUN kinase kinase kinase activity|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(14)|skin(1) 24 GCGGGCCGCCACCCCGAGACA 0.687000 9 113 0 0 1 0 0 ARID4A 5926 broad.mit.edu 37 14 58795010 58795010 + Missense_Mutation SNP T T G TCGA-N5-A4RA-01A-11D-A28R-08 TCGA-N5-A4RA-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3dc3c63-8571-457e-b20e-775f7fd21b7b 81db3ca2-9fc2-41e6-8d59-f99d874a163d g.chr14:58795010T>G ENST00000355431.3 + 9 1011 c.638T>G c.(637-639)gTt>gGt p.V213G ARID4A_ENST00000395168.3_Missense_Mutation_p.V213G|ARID4A_ENST00000431317.2_Missense_Mutation_p.V213G|ARID4A_ENST00000348476.3_Missense_Mutation_p.V213G NM_002892.3 NP_002883.3 P29374 ARI4A_HUMAN AT rich interactive domain 4A (RBP1-like) 213 negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter transcriptional repressor complex DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(2)|central_nervous_system(1)|cervix(4)|endometrium(8)|kidney(2)|large_intestine(14)|lung(19)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 CAGTGTTTAGTTCGATCATTT 0.333000 15 20 0 0 1 0 0 PIK3CG 5294 broad.mit.edu 37 7 106508394 106508394 + Missense_Mutation SNP C C T TCGA-N5-A4RA-01A-11D-A28R-08 TCGA-N5-A4RA-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3dc3c63-8571-457e-b20e-775f7fd21b7b 81db3ca2-9fc2-41e6-8d59-f99d874a163d g.chr7:106508394C>T ENST00000359195.3 + 2 698 c.388C>T c.(388-390)Cgg>Tgg p.R130W PIK3CG_ENST00000440650.2_Missense_Mutation_p.R130W|PIK3CG_ENST00000496166.1_Missense_Mutation_p.R130W NM_002649.2 NP_002640.2 P48736 PK3CG_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma 130 G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 132 GGCCACGCACCGGAGCCCGGG 0.637000 33 39 0 0 1 0 0 CD86 942 broad.mit.edu 37 3 121825307 121825307 + Missense_Mutation SNP A A C TCGA-N5-A4RA-01A-11D-A28R-08 TCGA-N5-A4RA-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3dc3c63-8571-457e-b20e-775f7fd21b7b 81db3ca2-9fc2-41e6-8d59-f99d874a163d g.chr3:121825307A>C ENST00000330540.2 + 4 779 c.663A>C c.(661-663)gaA>gaC p.E221D CD86_ENST00000393627.2_Missense_Mutation_p.E215D|CD86_ENST00000493101.1_Missense_Mutation_p.E109D|CD86_ENST00000264468.5_Intron|CD86_ENST00000469710.1_Missense_Mutation_p.E139D NM_175862.4 NP_787058.4 P42081 CD86_HUMAN CD86 molecule 221 Ig-like C2-type. interspecies interaction between organisms|positive regulation of cell proliferation|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of lymphotoxin A biosynthetic process|positive regulation of T-helper 2 cell differentiation|positive regulation of transcription, DNA-dependent|T cell costimulation coreceptor activity|protein binding breast(2)|endometrium(1)|kidney(1)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3) 23 GBM - Glioblastoma multiforme(114;0.156) Abatacept(DB01281) GTATTCTGGAAACTGACAAGA 0.388000 47 153 0 0 1 0 0 KRT6C 286887 broad.mit.edu 37 12 52865910 52865910 + Missense_Mutation SNP C C T TCGA-N5-A4RA-01A-11D-A28R-08 TCGA-N5-A4RA-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3dc3c63-8571-457e-b20e-775f7fd21b7b 81db3ca2-9fc2-41e6-8d59-f99d874a163d g.chr12:52865910C>T ENST00000252250.6 - 2 742 c.695G>A c.(694-696)cGg>cAg p.R232Q NM_173086.4 NP_775109.2 P48668 K2C6C_HUMAN keratin 6C 232 Coil 1B.|Rod. cytoskeleton organization keratin filament structural molecule activity cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|prostate(2)|skin(2) 23 BRCA - Breast invasive adenocarcinoma(357;0.0828) CAGGCGGCCCCGTTCCCCGAC 0.572000 100 24 0 0 1 0 0 PODXL2 50512 broad.mit.edu 37 3 127358250 127358250 + Missense_Mutation SNP G G T TCGA-N5-A4RA-01A-11D-A28R-08 TCGA-N5-A4RA-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3dc3c63-8571-457e-b20e-775f7fd21b7b 81db3ca2-9fc2-41e6-8d59-f99d874a163d g.chr3:127358250G>T ENST00000342480.6 + 2 272 c.233G>T c.(232-234)gGc>gTc p.G78V NM_015720.2 NP_056535.1 Q9NZ53 PDXL2_HUMAN podocalyxin-like 2 78 leukocyte tethering or rolling integral to plasma membrane glycosaminoglycan binding|protein binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 26 GGAGCCCCTGGCTCAGGCTTC 0.597000 30 46 5.45727e-16 6.4495e-16 1 1 0 OR51G1 79324 broad.mit.edu 37 11 4944753 4944753 + Missense_Mutation SNP C C T TCGA-N5-A4RA-01A-11D-A28R-08 TCGA-N5-A4RA-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3dc3c63-8571-457e-b20e-775f7fd21b7b 81db3ca2-9fc2-41e6-8d59-f99d874a163d g.chr11:4944753C>T ENST00000321961.2 - 1 884 c.817G>A c.(817-819)Gtt>Att p.V273I MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron NM_001005237.1 NP_001005237.1 Q8NGK1 O51G1_HUMAN olfactory receptor, family 51, subfamily G, member 1 273 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(4)|soft_tissue(1) 25 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19) AGGTGTACAACGCGGGGCAGA 0.493000 5 106 0 0 1 0 0 KIAA1244 57221 broad.mit.edu 37 6 138584324 138584324 + Silent SNP G G T TCGA-N5-A4RA-01A-11D-A28R-08 TCGA-N5-A4RA-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3dc3c63-8571-457e-b20e-775f7fd21b7b 81db3ca2-9fc2-41e6-8d59-f99d874a163d g.chr6:138584324G>T ENST00000251691.4 + 12 1870 c.1704G>T c.(1702-1704)acG>acT p.T568T NM_020340.4 NP_065073.3 Q5TH69 BIG3_HUMAN KIAA1244 568 regulation of ARF protein signal transduction cytoplasm|integral to membrane ARF guanyl-nucleotide exchange factor activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2) 44 Breast(32;0.135) OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259) GAAGCCACACGGTCCCTTACC 0.507000 10 118 1.76689e-08 1.96882e-08 1 1 0 RP11-526I2.1 0 broad.mit.edu 37 15 101098883 101098883 + RNA SNP G G A TCGA-N5-A4RA-01A-11D-A28R-08 TCGA-N5-A4RA-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3dc3c63-8571-457e-b20e-775f7fd21b7b 81db3ca2-9fc2-41e6-8d59-f99d874a163d g.chr15:101098883G>A ENST00000559349.1 + 0 2 CAATGTGCACGTGCTGCTCCT 0.587000 6 22 0 0 1 0 0 HSPB7 27129 broad.mit.edu 37 1 16342195 16342195 + Silent SNP G G A TCGA-N5-A4RA-01A-11D-A28R-08 TCGA-N5-A4RA-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3dc3c63-8571-457e-b20e-775f7fd21b7b 81db3ca2-9fc2-41e6-8d59-f99d874a163d g.chr1:16342195G>A ENST00000311890.9 - 3 1219 c.393C>T c.(391-393)gaC>gaT p.D131D HSPB7_ENST00000411503.1_Silent_p.D126D|HSPB7_ENST00000406363.2_Silent_p.D135D|HSPB7_ENST00000375718.4_Silent_p.D206D|HSPB7_ENST00000487046.1_Silent_p.D136D NM_014424.4 NP_055239.1 Q9UBY9 HSPB7_HUMAN heat shock 27kDa protein family, member 7 (cardiovascular) 131 regulation of heart contraction|response to heat|response to unfolded protein Cajal body protein C-terminus binding breast(1)|large_intestine(1)|liver(1)|lung(6)|skin(1) 10 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;8.21e-08)|COAD - Colon adenocarcinoma(227;5.5e-06)|BRCA - Breast invasive adenocarcinoma(304;9.08e-05)|Kidney(64;0.000162)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00656)|READ - Rectum adenocarcinoma(331;0.0649) TCGGGTCCACGTCCTCCGGCA 0.677000 72 48 0 0 1 0 0 POTEC 388468 broad.mit.edu 37 18 14543050 14543050 + Silent SNP G G A TCGA-N5-A4RA-01A-11D-A28R-08 TCGA-N5-A4RA-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3dc3c63-8571-457e-b20e-775f7fd21b7b 81db3ca2-9fc2-41e6-8d59-f99d874a163d g.chr18:14543050G>A ENST00000358970.5 - 1 95 c.96C>T c.(94-96)ttC>ttT p.F32F POTEC_ENST00000389891.4_5'UTR NM_001137671.1 NP_001131143.1 B2RU33 POTEC_HUMAN POTE ankyrin domain family, member C 32 NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3) 52 TGCAGCAGGGGAAGCGGTGGT 0.552000 119 114 0 0 1 0 0 WDR7 23335 broad.mit.edu 37 18 54385303 54385303 + Missense_Mutation SNP A A G TCGA-N5-A4RA-01A-11D-A28R-08 TCGA-N5-A4RA-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3dc3c63-8571-457e-b20e-775f7fd21b7b 81db3ca2-9fc2-41e6-8d59-f99d874a163d g.chr18:54385303A>G ENST00000254442.3 + 13 1898 c.1687A>G c.(1687-1689)Att>Gtt p.I563V WDR7_ENST00000357574.3_Missense_Mutation_p.I563V|WDR7_ENST00000589935.1_Intron NM_015285.2 NP_056100.2 Q9Y4E6 WDR7_HUMAN WD repeat domain 7 563 NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3) 78 Lung(128;0.0238)|Colorectal(16;0.0296) CCTTTTTCCTATTCAAGTAAT 0.443000 36 99 0 0 1 0 0 HOXD12 3238 broad.mit.edu 37 2 176964703 176964703 + Silent SNP C C T TCGA-N5-A4RA-01A-11D-A28R-08 TCGA-N5-A4RA-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3dc3c63-8571-457e-b20e-775f7fd21b7b 81db3ca2-9fc2-41e6-8d59-f99d874a163d g.chr2:176964703C>T ENST00000406506.2 + 1 246 c.174C>T c.(172-174)tgC>tgT p.C58C HOXD12_ENST00000404162.2_Silent_p.C58C P35452 HXD12_HUMAN homeobox D12 58 nuclear chromosome sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|large_intestine(1)|lung(7)|ovary(1) 10 OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18) Colorectal(32;0.0521)|READ - Rectum adenocarcinoma(9;0.0678) CCGCCTCCTGCGCCCCCGCGC 0.741000 7 30 0 0 1 0 0 SEPT5 5413 broad.mit.edu 37 22 19709220 19709220 + Missense_Mutation SNP C C T TCGA-N5-A4RA-01A-11D-A28R-08 TCGA-N5-A4RA-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3dc3c63-8571-457e-b20e-775f7fd21b7b 81db3ca2-9fc2-41e6-8d59-f99d874a163d g.chr22:19709220C>T ENST00000438754.2 + 8 1082 c.802C>T c.(802-804)Cgg>Tgg p.R268W SEPT5_ENST00000383045.3_Missense_Mutation_p.R268W|SEPT5_ENST00000455784.2_Missense_Mutation_p.R259W|SEPT5_ENST00000406395.1_Missense_Mutation_p.R259W NM_001009939.2 NP_001009939.1 Q99719 SEPT5_HUMAN septin 5 259 cell cycle|cytokinesis|regulation of exocytosis|synaptic vesicle targeting plasma membrane|septin complex|synaptic vesicle GTP binding|GTPase activity|protein binding|structural molecule activity lung(1)|upper_aerodigestive_tract(1) 2 Colorectal(54;0.0993) CAAGGGGCAGCGGGTCCGGGG 0.672000 31 120 0 0 1 0 0 GH2 2689 broad.mit.edu 37 17 61959155 61959155 + Missense_Mutation SNP C C T rs148779841 TCGA-N5-A4RA-01A-11D-A28R-08 TCGA-N5-A4RA-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3dc3c63-8571-457e-b20e-775f7fd21b7b 81db3ca2-9fc2-41e6-8d59-f99d874a163d g.chr17:61959155C>T ENST00000332800.7 - 1 140 c.7G>A c.(7-9)Gca>Aca p.A3T GH2_ENST00000449787.2_Missense_Mutation_p.A3T|GH2_ENST00000423893.2_Missense_Mutation_p.A3T|GH2_ENST00000456543.2_Missense_Mutation_p.A3T NM_002059.4|NM_022557.3|NM_022558.3 NP_002050.1|NP_072051.1|NP_072052.1 P01242 SOM2_HUMAN growth hormone 2 3 extracellular region hormone activity p.A3T(2) breast(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2) 24 CGCTTACCTGCAGCCATTGCC 0.597000 4 85 0 0 1 0 0 KALRN 8997 broad.mit.edu 37 3 124418865 124418865 + Nonsense_Mutation SNP C C T TCGA-N5-A4RA-01A-11D-A28R-08 TCGA-N5-A4RA-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3dc3c63-8571-457e-b20e-775f7fd21b7b 81db3ca2-9fc2-41e6-8d59-f99d874a163d g.chr3:124418865C>T ENST00000360013.3 + 56 8108 c.7981C>T c.(7981-7983)Cga>Tga p.R2661* KALRN_ENST00000428018.2_Nonsense_Mutation_p.R932*|KALRN_ENST00000291478.4_Nonsense_Mutation_p.R964* NM_001024660.3 NP_001019831.2 O60229 KALRN_HUMAN kalirin, RhoGEF kinase 2660 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport actin cytoskeleton|cytosol ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 83 GGAGTTTGTGCGACTTCCAGA 0.597000 4 211 0 0 1 0 0 TRPM2 7226 broad.mit.edu 37 21 45844759 45844759 + Missense_Mutation SNP C C T TCGA-N5-A4RA-01A-11D-A28R-08 TCGA-N5-A4RA-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3dc3c63-8571-457e-b20e-775f7fd21b7b 81db3ca2-9fc2-41e6-8d59-f99d874a163d g.chr21:45844759C>T ENST00000397928.1 + 24 4019 c.3574C>T c.(3574-3576)Cac>Tac p.H1192Y TRPM2_ENST00000397932.2_Missense_Mutation_p.H1242Y|TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000300482.5_Missense_Mutation_p.H1192Y|TRPM2_ENST00000300481.9_Missense_Mutation_p.H1172Y NM_003307.3 NP_003298.1 O94759 TRPM2_HUMAN transient receptor potential cation channel, subfamily M, member 2 1192 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 CCAAGCCCTGCACTGGATCGT 0.682000 12 8 0 0 1 0 0 MAPKBP1 23005 broad.mit.edu 37 15 42109861 42109861 + Missense_Mutation SNP C C T TCGA-N5-A4RA-01A-11D-A28R-08 TCGA-N5-A4RA-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3dc3c63-8571-457e-b20e-775f7fd21b7b 81db3ca2-9fc2-41e6-8d59-f99d874a163d g.chr15:42109861C>T ENST00000457542.2 + 16 2118 c.1832C>T c.(1831-1833)aCg>aTg p.T611M MAPKBP1_ENST00000456763.2_Missense_Mutation_p.T617M|MAPKBP1_ENST00000221214.6_Missense_Mutation_p.T494M|MAPKBP1_ENST00000260357.7_Missense_Mutation_p.T450M|MAPKBP1_ENST00000514566.1_Missense_Mutation_p.T611M NM_014994.2 NP_055809.2 O60336 MABP1_HUMAN mitogen-activated protein kinase binding protein 1 617 breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262) OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225) GTGCGGAAGACGACCCTCTAT 0.612000 27 20 0 0 1 0 0 MTSS1 9788 broad.mit.edu 37 8 125711778 125711778 + Missense_Mutation SNP G G T TCGA-N5-A4RA-01A-11D-A28R-08 TCGA-N5-A4RA-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3dc3c63-8571-457e-b20e-775f7fd21b7b 81db3ca2-9fc2-41e6-8d59-f99d874a163d g.chr8:125711778G>T ENST00000518547.1 - 3 670 c.197C>A c.(196-198)aCc>aAc p.T66N MTSS1_ENST00000325064.5_Missense_Mutation_p.T66N|MTSS1_ENST00000354184.4_5'UTR|MTSS1_ENST00000378017.3_Missense_Mutation_p.T66N NM_014751.4 NP_055566.3 O43312 MTSS1_HUMAN metastasis suppressor 1 66 IMD. actin cytoskeleton organization|cell adhesion|cellular component movement|filopodium assembly|transmembrane receptor protein tyrosine kinase signaling pathway actin cytoskeleton|endocytic vesicle|ruffle actin monomer binding|cytoskeletal adaptor activity|receptor binding|SH3 domain binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1) 37 Ovarian(258;0.00438)|all_neural(195;0.00459)|Hepatocellular(40;0.108) STAD - Stomach adenocarcinoma(47;0.00288) ACGTGTGTTGGTGGCCATGTC 0.493000 26 24 2.41591e-17 2.89909e-17 1 1 0 ZNF254 9534 broad.mit.edu 37 19 24309473 24309473 + Missense_Mutation SNP C C T TCGA-N5-A4RA-01A-11D-A28R-08 TCGA-N5-A4RA-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3dc3c63-8571-457e-b20e-775f7fd21b7b 81db3ca2-9fc2-41e6-8d59-f99d874a163d g.chr19:24309473C>T ENST00000357002.4 + 4 786 c.671C>T c.(670-672)aCc>aTc p.T224I ZNF254_ENST00000342944.6_Missense_Mutation_p.T139I NM_001278661.1|NM_001278662.1|NM_001278664.1|NM_001278677.1|NM_001278678.1|NM_203282.2 NP_001265590.1|NP_001265591.1|NP_001265593.1|NP_001265606.1|NP_001265607.1|NP_975011.3 O75437 ZN254_HUMAN zinc finger protein 254 224 negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.T224I(1) all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186) TGGTCCTCAACCCTTACTAAT 0.328000 22 51 0 0 1 0 0 FOCAD 54914 broad.mit.edu 37 9 20862655 20862655 + Silent SNP C C T TCGA-N5-A4RA-01A-11D-A28R-08 TCGA-N5-A4RA-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3dc3c63-8571-457e-b20e-775f7fd21b7b 81db3ca2-9fc2-41e6-8d59-f99d874a163d g.chr9:20862655C>T ENST00000380249.1 + 18 2363 c.1999C>T c.(1999-2001)Ctg>Ttg p.L667L FOCAD_ENST00000605086.1_Silent_p.L103L|FOCAD_ENST00000338382.6_Silent_p.L667L NM_017794.3 NP_060264.3 Q5VW36 K1797_HUMAN focadhesin 667 integral to membrane binding TCTGAAGACACTGAGTGAACT 0.428000 67 8 0 0 1 0 0 USH2A 7399 broad.mit.edu 37 1 216595499 216595499 + Silent SNP G G A TCGA-N5-A4RA-01A-11D-A28R-08 TCGA-N5-A4RA-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3dc3c63-8571-457e-b20e-775f7fd21b7b 81db3ca2-9fc2-41e6-8d59-f99d874a163d g.chr1:216595499G>A ENST00000366943.2 - 2 566 c.180C>T c.(178-180)ctC>ctT p.L60L USH2A_ENST00000307340.3_Silent_p.L60L|USH2A_ENST00000366942.3_Silent_p.L60L O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 60 maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) TTCGGTCTGGGAGTCCACATA 0.483000 HNSCC(13;0.011) 37 28 0 0 1 0 0 SCN1A 6323 broad.mit.edu 37 2 166908389 166908389 + Silent SNP C C T TCGA-N5-A4RA-01A-11D-A28R-08 TCGA-N5-A4RA-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3dc3c63-8571-457e-b20e-775f7fd21b7b 81db3ca2-9fc2-41e6-8d59-f99d874a163d g.chr2:166908389C>T ENST00000423058.2 - 6 821 c.804G>A c.(802-804)ctG>ctA p.L268L AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000409050.1_Silent_p.L268L|SCN1A_ENST00000303395.4_Silent_p.L268L|AC010127.3_ENST00000595268.1_RNA|SCN1A_ENST00000375405.3_Silent_p.L268L NM_001165963.1|NM_001202435.1 NP_001159435.1|NP_001189364.1 P35498 SCN1A_HUMAN sodium channel, voltage-gated, type I, alpha subunit 268 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1) 200 Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909) TGCCCATGAACAGCTGCAGCC 0.433000 25 79 0 0 1 0 0 SKIV2L2 23517 broad.mit.edu 37 5 54619970 54619970 + Missense_Mutation SNP C C A TCGA-N5-A4RA-01A-11D-A28R-08 TCGA-N5-A4RA-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3dc3c63-8571-457e-b20e-775f7fd21b7b 81db3ca2-9fc2-41e6-8d59-f99d874a163d g.chr5:54619970C>A ENST00000230640.5 + 3 537 c.283C>A c.(283-285)Ctg>Atg p.L95M SKIV2L2_ENST00000504388.1_3'UTR|SKIV2L2_ENST00000545714.1_Intron NM_015360.4 NP_056175.3 P42285 SK2L2_HUMAN superkiller viralicidic activity 2-like 2 (S. cerevisiae) 95 maturation of 5.8S rRNA catalytic step 2 spliceosome|nucleolus ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding NS(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 41 Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194) TTTGGCAGACCTGATGCCCAG 0.348000 6 18 3.59834e-05 3.79284e-05 1 1 0 GTPBP6 8225 broad.mit.edu 37 X 229480 229480 + Missense_Mutation SNP G G A TCGA-N5-A4RA-01A-11D-A28R-08 TCGA-N5-A4RA-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3dc3c63-8571-457e-b20e-775f7fd21b7b 81db3ca2-9fc2-41e6-8d59-f99d874a163d g.chrX:229480G>A ENST00000326153.4 - 2 181 c.182C>T c.(181-183)aCg>aTg p.T61M O43824 GTPB6_HUMAN GTP binding protein 6 (putative) 290 intracellular GTP binding p.D60D(1) breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(3) 7 all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186) CTCCCGCCTCGTCCGCTGCCG 0.662000 29 10 0 0 1 0 0 ANKRD30BL 554226 broad.mit.edu 37 2 132912341 132912341 + Splice_Site SNP C C T TCGA-N5-A4RA-01A-11D-A28R-08 TCGA-N5-A4RA-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3dc3c63-8571-457e-b20e-775f7fd21b7b 81db3ca2-9fc2-41e6-8d59-f99d874a163d g.chr2:132912341C>T ENST00000409867.1 - 4 757 c.507_splice c.e4-1 p.A170_splice ANKRD30BL_ENST00000470729.1_5'UTR ankyrin repeat domain 30B-like p.A170T(2) endometrium(1)|kidney(3) 4 GTGTGGCCAGCCTGTAAAACA 0.313000 4 11 0 0 1 0 0 ZNF831 128611 broad.mit.edu 37 20 57766724 57766724 + Missense_Mutation SNP G G T TCGA-N5-A4RA-01A-11D-A28R-08 TCGA-N5-A4RA-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3dc3c63-8571-457e-b20e-775f7fd21b7b 81db3ca2-9fc2-41e6-8d59-f99d874a163d g.chr20:57766724G>T ENST00000371030.2 + 1 650 c.650G>T c.(649-651)gGg>gTg p.G217V NM_178457.1 NP_848552.1 Q5JPB2 ZN831_HUMAN zinc finger protein 831 217 intracellular nucleic acid binding|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3) 125 all_lung(29;0.0085) CTGGAGGAAGGGGACAAGGCC 0.687000 32 124 4.00102e-26 4.95364e-26 1 1 0 PRH1 5554 broad.mit.edu 37 12 11036812 11036812 + Missense_Mutation SNP A A G TCGA-N5-A4RA-01A-11D-A28R-08 TCGA-N5-A4RA-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3dc3c63-8571-457e-b20e-775f7fd21b7b 81db3ca2-9fc2-41e6-8d59-f99d874a163d g.chr12:11036812A>G ENST00000428168.2 - 1 42 c.5T>C c.(4-6)cTt>cCt p.L2P PRR4_ENST00000536668.1_5'UTR NM_006250.3 NP_006241.2 P02810 PRPC_HUMAN proline-rich protein HaeIII subfamily 1 2 extracellular space protein binding endometrium(1)|kidney(1)|lung(2)|upper_aerodigestive_tract(1) 5 BRCA - Breast invasive adenocarcinoma(232;0.245) CAGAATCAGAAGCATCTTGCA 0.488000 19 61 0 0 1 0 0 CTC-457E21.3 0 broad.mit.edu 37 19 22785204 22785204 + RNA SNP C C A TCGA-N5-A4RA-01A-11D-A28R-08 TCGA-N5-A4RA-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3dc3c63-8571-457e-b20e-775f7fd21b7b 81db3ca2-9fc2-41e6-8d59-f99d874a163d g.chr19:22785204C>A ENST00000600260.1 + 0 1380 NR_033899.1 GGCTCACCTGCTGGCCTGGGC 0.657000 9 6 0.000274275 0.000285246 1 1 0 ZNF814 730051 broad.mit.edu 37 19 58385546 58385546 + Missense_Mutation SNP G G T TCGA-N5-A4RA-01A-11D-A28R-08 TCGA-N5-A4RA-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3dc3c63-8571-457e-b20e-775f7fd21b7b 81db3ca2-9fc2-41e6-8d59-f99d874a163d g.chr19:58385546G>T ENST00000435989.2 - 3 1446 c.1212C>A c.(1210-1212)gaC>gaA p.D404E ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000597832.1_Intron NM_001144989.1 NP_001138461.1 B7Z6K7 ZN814_HUMAN zinc finger protein 814 404 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding p.D404E(10) NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3) 25 AATGTTTTTTGTCAGTGTGAA 0.393000 3 11 0.004672 0.00479495 1 1 0 ESPNP 0 broad.mit.edu 37 1 17046475 17046475 + RNA SNP C C A TCGA-N5-A4RA-01A-11D-A28R-08 TCGA-N5-A4RA-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3dc3c63-8571-457e-b20e-775f7fd21b7b 81db3ca2-9fc2-41e6-8d59-f99d874a163d g.chr1:17046475C>A ENST00000492551.1 - 0 177 NR_026567.1 TAGTGCCTGACGAGAAGCCTC 0.622000 13 133 5.50884e-06 6.05196e-06 1 1 0 TSEN2 80746 broad.mit.edu 37 3 12531391 12531391 + Missense_Mutation SNP A A G TCGA-N5-A4RA-01A-11D-A28R-08 TCGA-N5-A4RA-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3dc3c63-8571-457e-b20e-775f7fd21b7b 81db3ca2-9fc2-41e6-8d59-f99d874a163d g.chr3:12531391A>G ENST00000444864.1 + 2 479 c.92A>G c.(91-93)cAt>cGt p.H31R TSEN2_ENST00000454502.2_Missense_Mutation_p.H31R|TSEN2_ENST00000415684.1_Missense_Mutation_p.H31R|TSEN2_ENST00000383797.5_Missense_Mutation_p.H31R|TSEN2_ENST00000314571.7_Missense_Mutation_p.H31R|TSEN2_ENST00000284995.6_Missense_Mutation_p.H31R|TSEN2_ENST00000402228.3_Missense_Mutation_p.H31R NM_001145395.1 NP_001138867.1 Q8NCE0 SEN2_HUMAN TSEN2 tRNA splicing endonuclease subunit 31 mRNA processing|tRNA splicing, via endonucleolytic cleavage and ligation cytoplasm|nucleolus|tRNA-intron endonuclease complex nucleic acid binding|tRNA-intron endonuclease activity central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7) 19 GGTCAGGACCATGGTCCTCTG 0.433000 30 67 0 0 1 0 0 CXorf22 170063 broad.mit.edu 37 X 35993823 35993823 + Missense_Mutation SNP G G A TCGA-N5-A4RA-01A-11D-A28R-08 TCGA-N5-A4RA-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3dc3c63-8571-457e-b20e-775f7fd21b7b 81db3ca2-9fc2-41e6-8d59-f99d874a163d g.chrX:35993823G>A ENST00000297866.5 + 15 2572 c.2506G>A c.(2506-2508)Gga>Aga p.G836R NM_152632.3 NP_689845.2 Q6ZTR5 CX022_HUMAN chromosome X open reading frame 22 836 breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3) 44 TGTACCCAGTGGACACATCCT 0.388000 47 68 0 0 1 0 0 CDK11B 984 broad.mit.edu 37 1 1572453 1572453 + Missense_Mutation SNP C C T TCGA-N5-A4RA-01A-11D-A28R-08 TCGA-N5-A4RA-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3dc3c63-8571-457e-b20e-775f7fd21b7b 81db3ca2-9fc2-41e6-8d59-f99d874a163d g.chr1:1572453C>T ENST00000407249.3 - 16 1690 c.1691G>A c.(1690-1692)gGc>gAc p.G564D CDK11B_ENST00000340677.5_Missense_Mutation_p.G551D|CDK11B_ENST00000341832.6_Missense_Mutation_p.G517D|CDK11B_ENST00000317673.7_Missense_Mutation_p.G562D P21127 CD11B_HUMAN cyclin-dependent kinase 11B 574 Protein kinase. apoptosis|cell proliferation|mitosis|regulation of cell growth|regulation of mRNA processing|regulation of transcription, DNA-dependent cytoplasm|nucleus ATP binding|cyclin-dependent protein kinase activity|protein binding endometrium(2)|large_intestine(3)|lung(4)|skin(1)|stomach(2) 12 CTTGAGGATGCCGGCGTGGCT 0.647000 4 152 0 0 1 0 0 BAG4 9530 broad.mit.edu 37 8 38067982 38067982 + Missense_Mutation SNP C C G TCGA-N5-A4RA-01A-11D-A28R-08 TCGA-N5-A4RA-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3dc3c63-8571-457e-b20e-775f7fd21b7b 81db3ca2-9fc2-41e6-8d59-f99d874a163d g.chr8:38067982C>G ENST00000287322.4 + 5 1616 c.1345C>G c.(1345-1347)Ctg>Gtg p.L449V BAG4_ENST00000432471.2_Missense_Mutation_p.L413V NM_004874.3 NP_004865.1 O95429 BAG4_HUMAN BCL2-associated athanogene 4 449 BAG. anti-apoptosis|apoptosis|protein folding cytoplasm|nucleus receptor signaling protein activity breast(1)|kidney(2)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|urinary_tract(1) 11 Colorectal(12;0.000442) all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.121) TCAGGCCATACTGGAAAAATT 0.408000 4 96 0 0 1 0 0 GGT3P 0 broad.mit.edu 37 22 18778612 18778612 + RNA SNP C C T rs1055042 by1000genomes TCGA-N5-A4RA-01A-11D-A28R-08 TCGA-N5-A4RA-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3dc3c63-8571-457e-b20e-775f7fd21b7b 81db3ca2-9fc2-41e6-8d59-f99d874a163d g.chr22:18778612C>T ENST00000412448.1 - 0 793 GCGGCCACGGCAGCCCTGGTG 0.637000 5 56 0 0 1 0 0 NCOA3 8202 broad.mit.edu 37 20 46279833 46279833 + Silent SNP G G A TCGA-N5-A4RA-01A-11D-A28R-08 TCGA-N5-A4RA-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3dc3c63-8571-457e-b20e-775f7fd21b7b 81db3ca2-9fc2-41e6-8d59-f99d874a163d g.chr20:46279833G>A ENST00000372004.3 + 20 3963 c.3747G>A c.(3745-3747)caG>caA p.Q1249Q NCOA3_ENST00000371997.3_Silent_p.Q1244Q|NCOA3_ENST00000371998.3_Silent_p.Q1253Q|NCOA3_ENST00000341724.6_Silent_p.Q1179Q NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2 NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1 Q9Y6Q9 NCOA3_HUMAN nuclear receptor coactivator 3 1253 Acetyltransferase.|Poly-Gln. Missing. androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleoplasm androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 52 agcagcagcagcaacagcagc 0.547000 4 86 0 0 1 0 0 TPTE2 93492 broad.mit.edu 37 13 20041425 20041425 + Missense_Mutation SNP G G A TCGA-N5-A4RA-01A-11D-A28R-08 TCGA-N5-A4RA-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3dc3c63-8571-457e-b20e-775f7fd21b7b 81db3ca2-9fc2-41e6-8d59-f99d874a163d g.chr13:20041425G>A ENST00000400230.2 - 7 496 c.452C>T c.(451-453)cCt>cTt p.P151L TPTE2_ENST00000382978.1_Intron|TPTE2_ENST00000255310.6_Intron|TPTE2_ENST00000457266.2_Intron|TPTE2_ENST00000382975.4_Intron|TPTE2_ENST00000390680.2_Intron|TPTE2_ENST00000400103.2_Intron|TPTE2_ENST00000382977.4_Missense_Mutation_p.P151L Q6XPS3 TPTE2_HUMAN transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 151 endoplasmic reticulum membrane|integral to membrane ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089) AACCAGCAGAGGAATCACAAT 0.289000 3 78 0 0 1 0 0 TRPC4 7223 broad.mit.edu 37 13 38237782 38237782 + Missense_Mutation SNP A A C TCGA-N5-A4RA-01A-11D-A28R-08 TCGA-N5-A4RA-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3dc3c63-8571-457e-b20e-775f7fd21b7b 81db3ca2-9fc2-41e6-8d59-f99d874a163d g.chr13:38237782A>C ENST00000379705.3 - 6 2316 c.1459T>G c.(1459-1461)Ttc>Gtc p.F487V TRPC4_ENST00000426868.2_Intron|TRPC4_ENST00000355779.2_Missense_Mutation_p.F487V|TRPC4_ENST00000358477.2_Missense_Mutation_p.F487V|TRPC4_ENST00000379679.1_Missense_Mutation_p.F314V|TRPC4_ENST00000338947.5_Missense_Mutation_p.F314V|TRPC4_ENST00000379681.3_Missense_Mutation_p.F487V|TRPC4_ENST00000379673.2_Missense_Mutation_p.F487V|TRPC4_ENST00000494529.1_5'UTR|TRPC4_ENST00000447043.1_Missense_Mutation_p.F487V Q9UBN4 TRPC4_HUMAN transient receptor potential cation channel, subfamily C, member 4 487 axon guidance|calcium ion import basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton beta-catenin binding|cadherin binding|store-operated calcium channel activity NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2) 83 all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126) AGAGAACTGAAGATGTTTGCA 0.448000 22 53 0 0 1 0 0 MLTK 0 broad.mit.edu 37 2 174081932 174081932 + Missense_Mutation SNP G G T TCGA-N5-A4RA-01A-11D-A28R-08 TCGA-N5-A4RA-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3dc3c63-8571-457e-b20e-775f7fd21b7b 81db3ca2-9fc2-41e6-8d59-f99d874a163d g.chr2:174081932G>T ENST00000338983.3 + 11 1136 c.941G>T c.(940-942)cGt>cTt p.R314L MLK7-AS1_ENST00000422703.1_RNA|MLTK_ENST00000539448.1_Missense_Mutation_p.R314L|MLK7-AS1_ENST00000423106.2_RNA|MLTK_ENST00000431503.2_Missense_Mutation_p.R213L|MLTK_ENST00000375213.3_Missense_Mutation_p.R314L|MLTK_ENST00000409176.2_Missense_Mutation_p.R314L NM_133646.2 NP_598407.1 CGAGAAAGACGTTTAAAGATG 0.532000 15 97 2.31682e-05 2.47551e-05 1 1 0 DDX56 54606 broad.mit.edu 37 7 44608737 44608737 + Missense_Mutation SNP G G T TCGA-N5-A4RA-01A-11D-A28R-08 TCGA-N5-A4RA-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3dc3c63-8571-457e-b20e-775f7fd21b7b 81db3ca2-9fc2-41e6-8d59-f99d874a163d g.chr7:44608737G>T ENST00000258772.5 - 10 1391 c.1285C>A c.(1285-1287)Cgc>Agc p.R429S DDX56_ENST00000431640.1_Missense_Mutation_p.R389S|DDX56_ENST00000485367.1_5'UTR NM_001257189.1|NM_019082.3 NP_001244118.1|NP_061955.1 Q9NY93 DDX56_HUMAN DEAD (Asp-Glu-Ala-Asp) box helicase 56 429 rRNA processing nucleolus ATP binding|ATP-dependent RNA helicase activity|identical protein binding|RNA binding p.R429C(1) breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(5)|upper_aerodigestive_tract(1) 16 ACCCTGCAGCGATAGCGGAAG 0.627000 20 74 1.96292e-10 2.28519e-10 1 1 0 TNPO3 23534 broad.mit.edu 37 7 128630096 128630096 + Missense_Mutation SNP C C T rs150330408 TCGA-N5-A4RA-01A-11D-A28R-08 TCGA-N5-A4RA-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3dc3c63-8571-457e-b20e-775f7fd21b7b 81db3ca2-9fc2-41e6-8d59-f99d874a163d g.chr7:128630096C>T ENST00000393245.1 - 11 1892 c.1519G>A c.(1519-1521)Gta>Ata p.V507I TNPO3_ENST00000471234.1_Missense_Mutation_p.V473I|TNPO3_ENST00000265388.5_Missense_Mutation_p.V473I|TNPO3_ENST00000471166.1_Missense_Mutation_p.V507I|TNPO3_ENST00000482320.1_Missense_Mutation_p.V407I NM_012470.3 NP_036602.1 Q9Y5L0 TNPO3_HUMAN transportin 3 473 splicing factor protein import into nucleus cytoplasm|nucleus protein binding|receptor activity central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(3) 22 GCCGTATGTACGGTCTCCGGG 0.478000 88 107 0 0 1 0 0 FBXW7 0 broad.mit.edu 37 4 153250873 153250873 + Missense_Mutation SNP C C T TCGA-N5-A4RA-01A-11D-A28R-08 TCGA-N5-A4RA-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3dc3c63-8571-457e-b20e-775f7fd21b7b 81db3ca2-9fc2-41e6-8d59-f99d874a163d g.chr4:153250873C>T ENST00000281708.4 - 8 2416 c.1187G>A c.(1186-1188)aGt>aAt p.S396N FBXW7_ENST00000263981.5_Missense_Mutation_p.S316N|FBXW7_ENST00000603548.1_Missense_Mutation_p.S396N|FBXW7_ENST00000296555.5_Missense_Mutation_p.S278N|FBXW7_ENST00000603841.1_Missense_Mutation_p.S396N|FBXW7_ENST00000393956.3_Missense_Mutation_p.S220N NM_033632.3 NP_361014.1 Q969H0 FBXW7_HUMAN F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase 396 interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development nucleolus|nucleoplasm|SCF ubiquitin ligase complex protein binding p.?(1) NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6) 462 all_hematologic(180;0.093) Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067) ATCAGAACCACTAACTATTCG 0.348000 """Mis, N, D, F""" """colorectal, endometrial, T-ALL""" 44 7 0 0 1 0 0 ACOT12 134526 broad.mit.edu 37 5 80626633 80626633 + Splice_Site SNP G G T TCGA-N5-A4RA-01A-11D-A28R-08 TCGA-N5-A4RA-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3dc3c63-8571-457e-b20e-775f7fd21b7b 81db3ca2-9fc2-41e6-8d59-f99d874a163d g.chr5:80626633G>T ENST00000307624.3 - 14 1546 c.1518_splice c.e14+1 p.I506_splice ACOT12_ENST00000508234.1_5'UTR NM_130767.2 NP_570123.1 Q8WYK0 ACO12_HUMAN acyl-CoA thioesterase 12 506 START. acyl-CoA metabolic process|fatty acid metabolic process cytosol acetyl-CoA hydrolase activity|carboxylesterase activity cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2) 23 Lung NSC(167;0.0176)|all_lung(232;0.0205)|Ovarian(174;0.135) OV - Ovarian serous cystadenocarcinoma(54;1.37e-45)|Epithelial(54;1.25e-39)|all cancers(79;5.01e-34) TCAAACTTACGATGCATGAAT 0.398000 16 25 2.32078e-09 2.66208e-09 1 1 0 PLXNB2 23654 broad.mit.edu 37 22 50716562 50716562 + Missense_Mutation SNP C C T TCGA-N5-A4RA-01A-11D-A28R-08 TCGA-N5-A4RA-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3dc3c63-8571-457e-b20e-775f7fd21b7b 81db3ca2-9fc2-41e6-8d59-f99d874a163d g.chr22:50716562C>T ENST00000449103.1 - 31 5011 c.4871G>A c.(4870-4872)cGg>cAg p.R1624Q PLXNB2_ENST00000359337.4_Missense_Mutation_p.R1624Q O15031 PLXB2_HUMAN plexin B2 1624 regulation of small GTPase mediated signal transduction integral to membrane|intracellular GTPase activator activity|protein binding|receptor activity breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 66 all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) TGAGAGCAGCCGCGTCAGGTA 0.687000 28 9 0 0 1 0 0 ZNRD1-AS1 0 broad.mit.edu 37 6 29977377 29977377 + RNA SNP C C G TCGA-N5-A4RA-01A-11D-A28R-08 TCGA-N5-A4RA-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3dc3c63-8571-457e-b20e-775f7fd21b7b 81db3ca2-9fc2-41e6-8d59-f99d874a163d g.chr6:29977377C>G ENST00000376797.3 - 0 731 ZNRD1-AS1_ENST00000420251.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA|HLA-J_ENST00000462773.1_RNA TTTGTGACTTCAAGAACCCTG 0.458000 3 43 0 0 1 0 0 PGM5P2 0 broad.mit.edu 37 9 69117826 69117826 + RNA SNP A A G TCGA-N5-A4RA-01A-11D-A28R-08 TCGA-N5-A4RA-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3dc3c63-8571-457e-b20e-775f7fd21b7b 81db3ca2-9fc2-41e6-8d59-f99d874a163d g.chr9:69117826A>G ENST00000591037.1 - 0 768 NR_002836.2 GGAGGTTAAGATAGATATCCA 0.413000 91 20 0 0 1 0 0 DAAM1 23002 broad.mit.edu 37 14 59793305 59793305 + Nonsense_Mutation SNP A A T TCGA-N5-A4RA-01A-11D-A28R-08 TCGA-N5-A4RA-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3dc3c63-8571-457e-b20e-775f7fd21b7b 81db3ca2-9fc2-41e6-8d59-f99d874a163d g.chr14:59793305A>T ENST00000395125.1 + 10 1275 c.1252A>T c.(1252-1254)Aaa>Taa p.K418* DAAM1_ENST00000360909.3_Nonsense_Mutation_p.K418*|DAAM1_ENST00000351081.1_Nonsense_Mutation_p.K418* NM_014992.2 NP_055807.1 Q9Y4D1 DAAM1_HUMAN dishevelled associated activator of morphogenesis 1 418 GBD/FH3. actin cytoskeleton organization cytoplasm|plasma membrane actin binding|Rho GTPase binding breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1) 37 OV - Ovarian serous cystadenocarcinoma(108;0.165) CCAGAATGACAAAGGACAGGA 0.378000 46 45 0 0 1 0 0 LRP1B 53353 broad.mit.edu 37 2 141625828 141625828 + Missense_Mutation SNP G G A TCGA-N5-A4RA-01A-11D-A28R-08 TCGA-N5-A4RA-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3dc3c63-8571-457e-b20e-775f7fd21b7b 81db3ca2-9fc2-41e6-8d59-f99d874a163d g.chr2:141625828G>A ENST00000389484.3 - 26 5145 c.4174C>T c.(4174-4176)Ctt>Ttt p.L1392F NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 1392 protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) GTCCAGAAAAGAATTCTaaaa 0.353000 TSP Lung(27;0.18) 14 44 0 0 1 0 0 SMYD1 150572 broad.mit.edu 37 2 88390583 88390583 + Missense_Mutation SNP G G A TCGA-N5-A4RA-01A-11D-A28R-08 TCGA-N5-A4RA-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3dc3c63-8571-457e-b20e-775f7fd21b7b 81db3ca2-9fc2-41e6-8d59-f99d874a163d g.chr2:88390583G>A ENST00000419482.2 + 4 666 c.581G>A c.(580-582)gGc>gAc p.G194D SMYD1_ENST00000438570.1_Intron|SMYD1_ENST00000444564.2_Missense_Mutation_p.G194D NM_198274.3 NP_938015.1 Q8NB12 SMYD1_HUMAN SET and MYND domain containing 1 194 SET. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding NS(1)|breast(4)|central_nervous_system(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 41 CAGGCCGTGGGCGTAGGCATC 0.498000 65 176 0 0 1 0 0 ZMIZ1 57178 broad.mit.edu 37 10 81050918 81050918 + Missense_Mutation SNP G G A TCGA-N5-A4RA-01A-11D-A28R-08 TCGA-N5-A4RA-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3dc3c63-8571-457e-b20e-775f7fd21b7b 81db3ca2-9fc2-41e6-8d59-f99d874a163d g.chr10:81050918G>A ENST00000334512.5 + 10 1315 c.743G>A c.(742-744)gGg>gAg p.G248E ZMIZ1_ENST00000478357.1_3'UTR NM_020338.3 NP_065071.1 Q9ULJ6 ZMIZ1_HUMAN zinc finger, MIZ-type containing 1 248 transcription, DNA-dependent cytoplasm|nuclear speck zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1) 30 all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985) Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229) CCCGGCAGCGGGGGCTTTGGG 0.652000 7 38 0 0 1 0 0 NLRC3 197358 broad.mit.edu 37 16 3613764 3613764 + RNA SNP C C A TCGA-N5-A4RA-01A-11D-A28R-08 TCGA-N5-A4RA-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3dc3c63-8571-457e-b20e-775f7fd21b7b 81db3ca2-9fc2-41e6-8d59-f99d874a163d g.chr16:3613764C>A ENST00000301749.7 - 0 1579 NLRC3_ENST00000359128.5_RNA|NLRC3_ENST00000603507.1_RNA|NLRC3_ENST00000448023.2_RNA|NLRC3_ENST00000419350.2_RNA|NLRC3_ENST00000324659.8_RNA NM_178844.2 NP_849172.2 Q7RTR2 NLRC3_HUMAN NLR family, CARD domain containing 3 I-kappaB kinase/NF-kappaB cascade|negative regulation of NF-kappaB transcription factor activity|T cell activation cytoplasm ATP binding breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 TTGCGGCCACCATGGGCCACC 0.587000 14 21 1.49906e-05 1.62398e-05 1 1 0 MUC17 140453 broad.mit.edu 37 7 100684160 100684160 + Missense_Mutation SNP C C T TCGA-N5-A4RA-01A-11D-A28R-08 TCGA-N5-A4RA-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3dc3c63-8571-457e-b20e-775f7fd21b7b 81db3ca2-9fc2-41e6-8d59-f99d874a163d g.chr7:100684160C>T ENST00000306151.4 + 3 9527 c.9463C>T c.(9463-9465)Cca>Tca p.P3155S NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 3155 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) TACCAGCATGCCAACCTCAAC 0.478000 6 758 0 0 1 0 0 ZNF831 128611 broad.mit.edu 37 20 57766698 57766698 + Silent SNP C C A TCGA-N5-A4RA-01A-11D-A28R-08 TCGA-N5-A4RA-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3dc3c63-8571-457e-b20e-775f7fd21b7b 81db3ca2-9fc2-41e6-8d59-f99d874a163d g.chr20:57766698C>A ENST00000371030.2 + 1 624 c.624C>A c.(622-624)ggC>ggA p.G208G NM_178457.1 NP_848552.1 Q5JPB2 ZN831_HUMAN zinc finger protein 831 208 intracellular nucleic acid binding|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3) 125 all_lung(29;0.0085) AGTCCGAGGGCGCCGGGGGCG 0.677000 42 131 7.05377e-20 8.59678e-20 1 1 0 SULF1 23213 broad.mit.edu 37 8 70541903 70541903 + Missense_Mutation SNP C C G TCGA-N5-A4RA-01A-11D-A28R-08 TCGA-N5-A4RA-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3dc3c63-8571-457e-b20e-775f7fd21b7b 81db3ca2-9fc2-41e6-8d59-f99d874a163d g.chr8:70541903C>G ENST00000260128.4 + 19 2990 c.2273C>G c.(2272-2274)cCg>cGg p.P758R SULF1_ENST00000458141.2_Missense_Mutation_p.P758R|SULF1_ENST00000521946.1_3'UTR|SULF1_ENST00000402687.4_Missense_Mutation_p.P758R|SULF1_ENST00000419716.3_Missense_Mutation_p.P758R NM_015170.2 NP_055985.2 Q8IWU6 SULF1_HUMAN sulfatase 1 758 apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway cell surface|endoplasmic reticulum|extracellular space|Golgi stack arylsulfatase activity|calcium ion binding breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 Breast(64;0.0654) Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534) CAGACAGCCCCGTTCTGGAAC 0.522000 66 1417 0 0 1 0 0 ATG4A 115201 broad.mit.edu 37 X 107374496 107374496 + Missense_Mutation SNP C C T TCGA-N5-A4RA-01A-11D-A28R-08 TCGA-N5-A4RA-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3dc3c63-8571-457e-b20e-775f7fd21b7b 81db3ca2-9fc2-41e6-8d59-f99d874a163d g.chrX:107374496C>T ENST00000372232.3 + 4 359 c.200C>T c.(199-201)aCg>aTg p.T67M ATG4A_ENST00000372254.3_Missense_Mutation_p.T43M|ATG4A_ENST00000545696.1_5'UTR|ATG4A_ENST00000345734.3_Missense_Mutation_p.T67M NM_052936.3 NP_443168.2 Q8WYN0 ATG4A_HUMAN autophagy related 4A, cysteine peptidase 67 autophagy|protein transport|proteolysis cytoplasm cysteine-type peptidase activity endometrium(3)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1) 11 ACAGGTGGAACGGGCCCTTCA 0.473000 38 87 0 0 1 0 0 MLLT3 4300 broad.mit.edu 37 9 20414340 20414340 + Silent SNP G G A TCGA-N5-A4RA-01A-11D-A28R-08 TCGA-N5-A4RA-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3dc3c63-8571-457e-b20e-775f7fd21b7b 81db3ca2-9fc2-41e6-8d59-f99d874a163d g.chr9:20414340G>A ENST00000380338.4 - 5 790 c.504C>T c.(502-504)agC>agT p.S168S MLLT3_ENST00000429426.2_Silent_p.S165S|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 168 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.S168S(5) central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7) 66 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) tgctgctgctgctactgctgc 0.537000 T MLL ALL 4 59 0 0 1 0 0 CLCN2 1181 broad.mit.edu 37 3 184073266 184073266 + Missense_Mutation SNP G G A TCGA-N5-A4RA-01A-11D-A28R-08 TCGA-N5-A4RA-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3dc3c63-8571-457e-b20e-775f7fd21b7b 81db3ca2-9fc2-41e6-8d59-f99d874a163d g.chr3:184073266G>A ENST00000265593.4 - 12 1393 c.1222C>T c.(1222-1224)Cgc>Tgc p.R408C EIF2B5_ENST00000444495.1_Intron|CLCN2_ENST00000457512.1_Missense_Mutation_p.R408C|CLCN2_ENST00000423355.2_Missense_Mutation_p.R49C|CLCN2_ENST00000475279.1_5'UTR|CLCN2_ENST00000344937.7_Missense_Mutation_p.R408C|CLCN2_ENST00000434054.2_Missense_Mutation_p.R364C NM_004366.5 NP_004357.3 P51788 CLCN2_HUMAN chloride channel, voltage-sensitive 2 408 chloride channel complex voltage-gated chloride channel activity breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 27 all_cancers(143;6.66e-11)|Ovarian(172;0.0339) Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) Lubiprostone(DB01046) AGGCCCTGGCGGACCCACGTC 0.582000 59 83 0 0 1 0 0 SCUBE2 57758 broad.mit.edu 37 11 9082062 9082062 + Missense_Mutation SNP G G A TCGA-N5-A4RA-01A-11D-A28R-08 TCGA-N5-A4RA-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3dc3c63-8571-457e-b20e-775f7fd21b7b 81db3ca2-9fc2-41e6-8d59-f99d874a163d g.chr11:9082062G>A ENST00000457346.2 - 8 934 c.860C>T c.(859-861)gCt>gTt p.A287V SCUBE2_ENST00000450649.2_Missense_Mutation_p.A287V|RP11-467K18.2_ENST00000521394.2_RNA|SCUBE2_ENST00000520467.1_Missense_Mutation_p.A287V|SCUBE2_ENST00000309263.3_Missense_Mutation_p.A287V Q9NQ36 SCUB2_HUMAN signal peptide, CUB domain, EGF-like 2 287 EGF-like 6 (Potential). extracellular region calcium ion binding breast(1)|endometrium(5)|kidney(3)|large_intestine(15)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 42 all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116) ATTGTTGACAGCACACGTTTC 0.498000 4 134 0 0 1 0 0 MAGEA6 4105 broad.mit.edu 37 X 151870055 151870055 + Missense_Mutation SNP T T C rs140963484 byFrequency TCGA-N5-A4RA-01A-11D-A28R-08 TCGA-N5-A4RA-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3dc3c63-8571-457e-b20e-775f7fd21b7b 81db3ca2-9fc2-41e6-8d59-f99d874a163d g.chrX:151870055T>C ENST00000329342.5 + 3 970 c.745T>C c.(745-747)Tat>Cat p.Y249H NM_005363.2 NP_005354.1 P43360 MAGA6_HUMAN melanoma antigen family A, 6 249 MAGE. protein binding breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1) 28 Acute lymphoblastic leukemia(192;6.56e-05) GCTCACCCAATATTTCGTGCA 0.547000 83 147 0 0 1 0 0 ZBTB7B 51043 broad.mit.edu 37 1 154987765 154987765 + Frame_Shift_Del DEL A A - TCGA-N5-A4RA-01A-11D-A28R-08 TCGA-N5-A4RA-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3dc3c63-8571-457e-b20e-775f7fd21b7b 81db3ca2-9fc2-41e6-8d59-f99d874a163d g.chr1:154987765delA ENST00000368426.3 + 3 766 c.629delA c.(628-630)cafs p.Q210fs ZBTB7B_ENST00000292176.2_Frame_Shift_Del_p.Q210fs|ZBTB7B_ENST00000535420.1_Frame_Shift_Del_p.Q210fs|ZBTB7B_ENST00000487542.1_3'UTR|ZBTB7B_ENST00000417934.2_Frame_Shift_Del_p.Q244fs NM_001256455.1 NP_001243384.1 O15156 ZBT7B_HUMAN zinc finger and BTB domain containing 7B 210 cell differentiation|ectoderm development|multicellular organismal development|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nucleus DNA binding|zinc ion binding endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3) 29 all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) BRCA - Breast invasive adenocarcinoma(34;0.00034) GCTTTCCTGCAAACCAAGGGG 0.672 114 228 --- --- --- --- LAMC1 3915 broad.mit.edu 37 1 182993005 182993018 + Frame_Shift_Del DEL CCCGAGTTCGTCAA CCCGAGTTCGTCAA - TCGA-N5-A4RA-01A-11D-A28R-08 TCGA-N5-A4RA-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3dc3c63-8571-457e-b20e-775f7fd21b7b 81db3ca2-9fc2-41e6-8d59-f99d874a163d g.chr1:182993005_182993018delCCCGAGTTCGTCAA ENST00000258341.4 + 1 411_424 c.154_167delCCCGAGTTCGTCAA c.(154-168)cfs p.PEFVN52fs NM_002293.3 NP_002284.3 P11047 LAMC1_HUMAN laminin, gamma 1 (formerly LAMB2) 52 Laminin N-terminal. axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex extracellular matrix structural constituent NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3) 76 Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GCGCTGCATGCCCGAGTTCGTCAACGCCGCCTTC 0.710 8 55 --- --- --- --- KLHL41 10324 broad.mit.edu 37 2 170366496 170366496 + Frame_Shift_Del DEL A A - TCGA-N5-A4RA-01A-11D-A28R-08 TCGA-N5-A4RA-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3dc3c63-8571-457e-b20e-775f7fd21b7b 81db3ca2-9fc2-41e6-8d59-f99d874a163d g.chr2:170366496delA ENST00000284669.1 + 1 285 c.208delA c.(208-210)aafs p.K72fs BBS5_ENST00000554017.1_Intron|RP11-724O16.1_ENST00000513963.1_Intron NM_006063.2 NP_006054.2 kelch-like family member 41 TGATGAGGCGAAAAAAAAGGA 0.388 7 270 --- --- --- --- AC018890.6 0 broad.mit.edu 37 2 175584494 175584494 + RNA DEL T T - TCGA-N5-A4RA-01A-11D-A28R-08 TCGA-N5-A4RA-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3dc3c63-8571-457e-b20e-775f7fd21b7b 81db3ca2-9fc2-41e6-8d59-f99d874a163d g.chr2:175584494delT ENST00000442996.1 + 0 217 TTGCTTCTGATTTTTTTTTTT 0.532 OREG0015078 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 2 4 --- --- --- --- ALG1L2 0 broad.mit.edu 37 3 129814807 129814807 + RNA DEL G G - rs71158106 TCGA-N5-A4RA-01A-11D-A28R-08 TCGA-N5-A4RA-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3dc3c63-8571-457e-b20e-775f7fd21b7b 81db3ca2-9fc2-41e6-8d59-f99d874a163d g.chr3:129814807delG ENST00000507643.1 + 0 456 C9J202 AG1L2_HUMAN biosynthetic process transferase activity, transferring glycosyl groups CACTCCCCTCGGGGGGTGTTG 0.607 2 4 --- --- --- --- PRKDC 5591 broad.mit.edu 37 8 48746799 48746799 + Frame_Shift_Del DEL T T - TCGA-N5-A4RA-01A-11D-A28R-08 TCGA-N5-A4RA-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3dc3c63-8571-457e-b20e-775f7fd21b7b 81db3ca2-9fc2-41e6-8d59-f99d874a163d g.chr8:48746799delT ENST00000314191.2 - 60 8163 c.8107delA c.(8107-8109)ggfs p.R2703fs PRKDC_ENST00000338368.3_Frame_Shift_Del_p.R2703fs|PRKDC_ENST00000523565.1_5'UTR NM_006904.6 NP_008835.5 P78527 PRKDC_HUMAN protein kinase, DNA-activated, catalytic polypeptide 2704 KIP-binding. cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7) 147 all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391) AGGCCCAGCCTTTTTTTCCCA 0.498 Non-homologous end-joining 13 3275 --- --- --- --- TGS1 96764 broad.mit.edu 37 8 56711599 56711599 + Frame_Shift_Del DEL A A - TCGA-N5-A4RA-01A-11D-A28R-08 TCGA-N5-A4RA-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3dc3c63-8571-457e-b20e-775f7fd21b7b 81db3ca2-9fc2-41e6-8d59-f99d874a163d g.chr8:56711599delA ENST00000260129.5 + 8 2146 c.1669delA c.(1669-1671)aafs p.K558fs NM_024831.6 NP_079107.6 Q96RS0 TGS1_HUMAN trimethylguanosine synthase 1 558 cellular lipid metabolic process|ncRNA metabolic process|regulation of transcription, DNA-dependent|RNA capping|spliceosomal snRNP assembly|transcription, DNA-dependent Cajal body|cytosol RNA trimethylguanosine synthase activity breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 29 all_lung(136;0.119)|all_epithelial(80;0.125)|Lung NSC(129;0.147) Epithelial(17;0.00027)|all cancers(17;0.00251) CATGTCTGTTAAAAAAGGTGA 0.403 7 834 --- --- --- --- TOX 9760 broad.mit.edu 37 8 59750796 59750798 + In_Frame_Del DEL CTT CTT - TCGA-N5-A4RA-01A-11D-A28R-08 TCGA-N5-A4RA-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3dc3c63-8571-457e-b20e-775f7fd21b7b 81db3ca2-9fc2-41e6-8d59-f99d874a163d g.chr8:59750796_59750798delCTT ENST00000361421.1 - 5 986_988 c.766_768delAAG c.(766-768)del p.K256del NM_014729.2 NP_055544.1 O94900 TOX_HUMAN thymocyte selection-associated high mobility group box 256 nucleus DNA binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(13)|prostate(1)|skin(2)|stomach(1) 33 all_cancers(86;0.165)|Myeloproliferative disorder(644;0.00452)|all_lung(136;0.036)|Lung NSC(129;0.0464)|all_epithelial(80;0.0607) CATTGGGATCCTTCTTCTTCTTC 0.453 8 1274 --- --- --- --- NTF3 4908 broad.mit.edu 37 12 5603608 5603609 + Frame_Shift_Ins INS - - C TCGA-N5-A4RA-01A-11D-A28R-08 TCGA-N5-A4RA-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3dc3c63-8571-457e-b20e-775f7fd21b7b 81db3ca2-9fc2-41e6-8d59-f99d874a163d g.chr12:5603608_5603609insC ENST00000423158.3 + 2 479_480 c.267_268insC c.(265-270)ggccgcfs p.R90fs NTF3_ENST00000331010.6_Frame_Shift_Ins_p.R77fs|NTF3_ENST00000535299.1_Intron NM_001102654.1 NP_001096124.1 P20783 NTF3_HUMAN neurotrophin 3 77 signal transduction extracellular region growth factor activity|neurotrophin receptor binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(3)|upper_aerodigestive_tract(1) 22 AGCGGGGAGGGCCCGCCAAGTC 0.579 8 125 --- --- --- --- UBE2Q2P1 0 broad.mit.edu 37 15 85077360 85077360 + RNA DEL A A - TCGA-N5-A4RA-01A-11D-A28R-08 TCGA-N5-A4RA-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3dc3c63-8571-457e-b20e-775f7fd21b7b 81db3ca2-9fc2-41e6-8d59-f99d874a163d g.chr15:85077360delA ENST00000339094.1 - 0 1678 NR_003661.2 tttttaaactaaaaaaaaaaa 0.373 6 5 --- --- --- --- TP53 7157 broad.mit.edu 37 17 7579718 7579718 + Frame_Shift_Del DEL A A - TCGA-N5-A4RA-01A-11D-A28R-08 TCGA-N5-A4RA-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3dc3c63-8571-457e-b20e-775f7fd21b7b 81db3ca2-9fc2-41e6-8d59-f99d874a163d g.chr17:7579718delA ENST00000420246.2 - 3 210 c.78delT c.(76-78)ctfs p.L26fs TP53_ENST00000359597.4_Frame_Shift_Del_p.L26fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.L26fs|TP53_ENST00000269305.4_Frame_Shift_Del_p.L26fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.L26fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.L26fs NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 26 Interaction with HRMT1L2.|Transcription activation (acidic). 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.0?(8)|p.L26fs*18(1)|p.P13fs*18(1)|p.L26fs*11(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) TGTTTTCAGGAAGTCTGAAAG 0.622 111 """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) 56 23 --- --- --- ---