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 KRT84 3890 broad.mit.edu 37 12 52779179 52779179 + Missense_Mutation SNP C C A TCGA-DU-7309-01A-11D-2086-08 TCGA-DU-7309-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx b47b5427-1159-4b16-a9b5-814d4e7dcffa 1125ff76-1f9b-4396-a4bb-cff53b6dd447 g.chr12:52779179C>A ENST00000257951.3 - 1 257 c.191G>T c.(190-192)cGg>cTg p.R64L RP3-416H24.4_ENST00000547174.1_RNA NM_033045.3 NP_149034.2 Q9NSB2 KRT84_HUMAN keratin 84 64 Head. keratin filament structural constituent of epidermis breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(10)|skin(3) 27 all_hematologic(5;0.12) BRCA - Breast invasive adenocarcinoma(357;0.189) AGCTGCTATCCGGGGTGAGTA 0.597000 3 61 1 1 1 1 0 GSTA4 2941 broad.mit.edu 37 6 52843274 52843274 + Missense_Mutation SNP C C A TCGA-DU-7309-01A-11D-2086-08 TCGA-DU-7309-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx b47b5427-1159-4b16-a9b5-814d4e7dcffa 1125ff76-1f9b-4396-a4bb-cff53b6dd447 g.chr6:52843274C>A ENST00000541324.1 - 5 649 c.384G>T c.(382-384)agG>agT p.R128S GSTA4_ENST00000370959.1_Missense_Mutation_p.R221S|GSTA4_ENST00000486559.1_5'UTR|GSTA4_ENST00000370960.1_Missense_Mutation_p.R128S O15217 GSTA4_HUMAN glutathione S-transferase alpha 4 221 GST C-terminal. glutathione metabolic process|xenobiotic metabolic process cytosol glutathione transferase activity|protein homodimerization activity endometrium(1)|lung(3)|skin(2)|urinary_tract(1) 7 Lung NSC(77;0.103) Glutathione(DB00143) TGTTTTATGGCCTAAAGATGT 0.418000 4 117 0.184627 0.187089 1 1 0 KRT6C 286887 broad.mit.edu 37 12 52863046 52863046 + Missense_Mutation SNP C C T rs140943956 byFrequency TCGA-DU-7309-01A-11D-2086-08 TCGA-DU-7309-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx b47b5427-1159-4b16-a9b5-814d4e7dcffa 1125ff76-1f9b-4396-a4bb-cff53b6dd447 g.chr12:52863046C>T ENST00000252250.6 - 9 1542 c.1495G>A c.(1495-1497)Ggt>Agt p.G499S NM_173086.4 NP_775109.2 P48668 K2C6C_HUMAN keratin 6C 499 Tail. cytoskeleton organization keratin filament structural molecule activity p.G499S(1) 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) CCGCTGGCACCGCCATAGCCA 0.612000 7 30 0 0 1 0 0 ATRX 546 broad.mit.edu 37 X 76813014 76813014 + Nonsense_Mutation SNP C C A TCGA-DU-7309-01A-11D-2086-08 TCGA-DU-7309-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx b47b5427-1159-4b16-a9b5-814d4e7dcffa 1125ff76-1f9b-4396-a4bb-cff53b6dd447 g.chrX:76813014C>A ENST00000373344.5 - 30 6821 c.6607G>T c.(6607-6609)Gag>Tag p.E2203* ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Nonsense_Mutation_p.E2165* NM_000489.3 NP_000480.2 P46100 ATRX_HUMAN alpha thalassemia/mental retardation syndrome X-linked 2203 Helicase C-terminal. DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent nuclear heterochromatin ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding p.?(1) bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 145 Phosphatidylserine(DB00144) TCAGTAAGCTCATTCATAGTA 0.393000 """Mis, F, N""" """Pancreatic neuroendocrine tumors, paediatric GBM""" ATR-X (alpha thalassemia/mental retardation) syndrome 47 57 8.04919e-23 8.61603e-23 1 1 0 EPB41L3 23136 broad.mit.edu 37 18 5397173 5397173 + Missense_Mutation SNP C C G TCGA-DU-7309-01A-11D-2086-08 TCGA-DU-7309-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx b47b5427-1159-4b16-a9b5-814d4e7dcffa 1125ff76-1f9b-4396-a4bb-cff53b6dd447 g.chr18:5397173C>G ENST00000341928.2 - 18 3065 c.2725G>C c.(2725-2727)Gtc>Ctc p.V909L EPB41L3_ENST00000542652.2_5'UTR|EPB41L3_ENST00000542146.1_Missense_Mutation_p.V214L|EPB41L3_ENST00000342933.3_Missense_Mutation_p.V909L|EPB41L3_ENST00000540638.2_Missense_Mutation_p.V687L|EPB41L3_ENST00000544123.1_Missense_Mutation_p.V740L|EPB41L3_ENST00000400111.3_Missense_Mutation_p.V687L|EPB41L3_ENST00000427684.2_Missense_Mutation_p.V206L NM_012307.2 NP_036439.2 Q9Y2J2 E41L3_HUMAN erythrocyte membrane protein band 4.1-like 3 909 Carboxyl-terminal (CTD). cortical actin cytoskeleton organization cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane actin binding|structural molecule activity breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 105 GCTTTAGCGACCTCCTCCCCT 0.567000 7 110 0 0 1 0 0 NBPF10 100132406 broad.mit.edu 37 1 145302714 145302714 + Silent SNP A A G rs9424867 TCGA-DU-7309-01A-11D-2086-08 TCGA-DU-7309-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx b47b5427-1159-4b16-a9b5-814d4e7dcffa 1125ff76-1f9b-4396-a4bb-cff53b6dd447 g.chr1:145302714A>G ENST00000342960.5 + 8 1187 c.1152A>G c.(1150-1152)ttA>ttG p.L384L NBPF10_ENST00000369338.1_Silent_p.L113L|NBPF10_ENST00000369339.2_Silent_p.L113L|RP11-458D21.5_ENST00000468030.1_3'UTR NM_001039703.4 NP_001034792.4 A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 384 p.L113L(3)|p.L384L(3) NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) AGGAGAAGTTACGGGAAGGGA 0.527000 3 37 0 0 1 0 0 PLCZ1 89869 broad.mit.edu 37 12 18854628 18854628 + Missense_Mutation SNP C C T TCGA-DU-7309-01A-11D-2086-08 TCGA-DU-7309-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx b47b5427-1159-4b16-a9b5-814d4e7dcffa 1125ff76-1f9b-4396-a4bb-cff53b6dd447 g.chr12:18854628C>T ENST00000447925.2 - 8 1210 c.941G>A c.(940-942)cGt>cAt p.R314H PLCZ1_ENST00000541695.1_Missense_Mutation_p.R179H|PLCZ1_ENST00000542762.1_5'UTR|PLCZ1_ENST00000435379.1_Missense_Mutation_p.R121H|PLCZ1_ENST00000538330.1_Missense_Mutation_p.R57H|PLCZ1_ENST00000266505.7_Missense_Mutation_p.R316H|PLCZ1_ENST00000539875.1_Missense_Mutation_p.R123H NM_033123.2 NP_149114.2 Q86YW0 PLCZ1_HUMAN phospholipase C, zeta 1 316 intracellular signal transduction|lipid catabolic process|multicellular organismal development nucleus|perinuclear region of cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1) 31 Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241) CACCTTACCACGCTTATCAGA 0.413000 4 19 0 0 1 0 0 LACTB2 51110 broad.mit.edu 37 8 71581352 71581352 + Missense_Mutation SNP C C G TCGA-DU-7309-01A-11D-2086-08 TCGA-DU-7309-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx b47b5427-1159-4b16-a9b5-814d4e7dcffa 1125ff76-1f9b-4396-a4bb-cff53b6dd447 g.chr8:71581352C>G ENST00000276590.4 - 1 40 c.4G>C c.(4-6)Gct>Cct p.A2P LACTB2_ENST00000522447.1_Missense_Mutation_p.A2P NM_016027.2 NP_057111.1 Q53H82 LACB2_HUMAN lactamase, beta 2 2 hydrolase activity|metal ion binding endometrium(2)|large_intestine(1)|liver(1)|lung(4)|ovary(1)|prostate(1) 10 Breast(64;0.0716) Epithelial(68;0.00319)|all cancers(69;0.0175)|OV - Ovarian serous cystadenocarcinoma(28;0.0628)|BRCA - Breast invasive adenocarcinoma(89;0.166) AGTACAGCAGCCATTCCCGCC 0.642000 OREG0018822 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 29 0 0 1 0 0 RGS14 10636 broad.mit.edu 37 5 176792987 176792987 + Splice_Site SNP T T C TCGA-DU-7309-01A-11D-2086-08 TCGA-DU-7309-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx b47b5427-1159-4b16-a9b5-814d4e7dcffa 1125ff76-1f9b-4396-a4bb-cff53b6dd447 g.chr5:176792987T>C ENST00000408923.3 + 2 255 c.e2+2 NM_006480.4 NP_006471.2 O43566 RGS14_HUMAN regulator of G-protein signaling 14 chromosome segregation|long-term memory|long-term synaptic potentiation|negative regulation of ERK1 and ERK2 cascade|negative regulation of MAP kinase activity|negative regulation of synaptic plasticity|nucleocytoplasmic transport|platelet-derived growth factor receptor signaling pathway|positive regulation of neurogenesis|regulation of DNA-dependent transcription in response to stress|regulation of G-protein coupled receptor protein signaling pathway|response to oxidative stress|spindle organization|visual learning|zygote asymmetric cell division cell junction|centrosome|dendritic spine|microtubule|PML body|postsynaptic density|postsynaptic membrane|spindle pole GDP-dissociation inhibitor activity|GTPase activator activity|microtubule binding|receptor signaling complex scaffold activity|receptor signaling protein activity breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(3)|upper_aerodigestive_tract(1) 12 all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) CAGATGGAGGTAAGTGACAGA 0.567000 4 210 0 0 1 0 0 SLC7A8 23428 broad.mit.edu 37 14 23598869 23598869 + Missense_Mutation SNP C C T TCGA-DU-7309-01A-11D-2086-08 TCGA-DU-7309-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx b47b5427-1159-4b16-a9b5-814d4e7dcffa 1125ff76-1f9b-4396-a4bb-cff53b6dd447 g.chr14:23598869C>T ENST00000316902.7 - 9 1978 c.1253G>A c.(1252-1254)cGc>cAc p.R418H SLC7A8_ENST00000422941.2_Missense_Mutation_p.R194H|SLC7A8_ENST00000469263.1_Intron|SLC7A8_ENST00000453702.1_Missense_Mutation_p.R215H|SLC7A8_ENST00000529705.2_Missense_Mutation_p.R313H NM_012244.3 NP_036376.2 Q9UHI5 LAT2_HUMAN solute carrier family 7 (amino acid transporter light chain, L system), member 8 418 blood coagulation|cellular amino acid metabolic process|leukocyte migration|metal ion homeostasis|response to toxin basolateral plasma membrane|cytoplasm|integral to plasma membrane neutral amino acid transmembrane transporter activity|organic cation transmembrane transporter activity|peptide antigen binding|protein binding|toxin transporter activity autonomic_ganglia(1)|endometrium(6)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|skin(1) 24 all_cancers(95;4.6e-05) GBM - Glioblastoma multiforme(265;0.00809) L-Alanine(DB00160)|L-Glutamine(DB00130)|L-Phenylalanine(DB00120) CTTGATGGGGCGGGGGATATC 0.498000 5 163 0 0 1 0 0 PBXIP1 57326 broad.mit.edu 37 1 154924372 154924372 + Missense_Mutation SNP G G A TCGA-DU-7309-01A-11D-2086-08 TCGA-DU-7309-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx b47b5427-1159-4b16-a9b5-814d4e7dcffa 1125ff76-1f9b-4396-a4bb-cff53b6dd447 g.chr1:154924372G>A ENST00000368463.3 - 3 148 c.77C>T c.(76-78)cCg>cTg p.P26L PBXIP1_ENST00000498553.1_Intron|PBXIP1_ENST00000539880.1_Intron|PBXIP1_ENST00000368460.3_Missense_Mutation_p.P26L|PBXIP1_ENST00000368465.1_5'UTR|PBXIP1_ENST00000542459.1_Intron NM_020524.2 NP_065385.2 Q96AQ6 PBIP1_HUMAN pre-B-cell leukemia homeobox interacting protein 1 26 cell differentiation|multicellular organismal development|negative regulation of transcription, DNA-dependent cytosol|microtubule|nucleus protein binding|transcription corepressor activity breast(1)|kidney(2)|large_intestine(6)|lung(13)|prostate(1)|urinary_tract(1) 24 all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245) BRCA - Breast invasive adenocarcinoma(34;0.00034) CCTGGATGCCGGGCCCAGTGT 0.592000 3 70 0 0 1 0 0 FAM57B 83723 broad.mit.edu 37 16 30037991 30037991 + Missense_Mutation SNP T T C TCGA-DU-7309-01A-11D-2086-08 TCGA-DU-7309-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx b47b5427-1159-4b16-a9b5-814d4e7dcffa 1125ff76-1f9b-4396-a4bb-cff53b6dd447 g.chr16:30037991T>C ENST00000380495.4 - 3 1114 c.383A>G c.(382-384)aAg>aGg p.K128R FAM57B_ENST00000564806.1_Missense_Mutation_p.K78R|FAM57B_ENST00000279389.4_Missense_Mutation_p.K78R NM_031478.4 NP_113666.2 Q71RH2 FA57B_HUMAN family with sequence similarity 57, member B 128 TLC. endoplasmic reticulum|integral to membrane central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1) 14 GAGGAACTCCTTGTGCAGGTA 0.677000 18 40 0 0 1 0 0 AIM1 202 broad.mit.edu 37 6 106992514 106992514 + Missense_Mutation SNP A A G TCGA-DU-7309-01A-11D-2086-08 TCGA-DU-7309-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx b47b5427-1159-4b16-a9b5-814d4e7dcffa 1125ff76-1f9b-4396-a4bb-cff53b6dd447 g.chr6:106992514A>G ENST00000369066.3 + 10 4371 c.3884A>G c.(3883-3885)gAc>gGc p.D1295G AIM1_ENST00000535438.1_Missense_Mutation_p.D114G|AIM1_ENST00000487681.1_3'UTR NM_001624.2 NP_001615.1 Q9Y4K1 AIM1_HUMAN absent in melanoma 1 1295 Beta/gamma crystallin 'Greek key' 6. sugar binding breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 69 Breast(9;0.0138)|all_epithelial(6;0.169) all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473) Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305) all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858) GAATACAGGGACTGGAAAGCC 0.418000 4 67 0 0 1 0 0 SCD 6319 broad.mit.edu 37 10 102112184 102112184 + Silent SNP C C T TCGA-DU-7309-01A-11D-2086-08 TCGA-DU-7309-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx b47b5427-1159-4b16-a9b5-814d4e7dcffa 1125ff76-1f9b-4396-a4bb-cff53b6dd447 g.chr10:102112184C>T ENST00000370355.2 + 3 753 c.372C>T c.(370-372)agC>agT p.S124S NM_005063.4 NP_005054.3 O00767 ACOD_HUMAN stearoyl-CoA desaturase (delta-9-desaturase) 124 fatty acid biosynthetic process endoplasmic reticulum membrane|integral to membrane iron ion binding|stearoyl-CoA 9-desaturase activity endometrium(1)|large_intestine(3)|lung(5) 9 Colorectal(252;0.0323) Epithelial(162;1.97e-10)|all cancers(201;1.73e-08) GTCTGTGGAGCCACCGCTCTT 0.522000 67 119 0 0 1 0 0 CEP68 23177 broad.mit.edu 37 2 65296819 65296819 + Missense_Mutation SNP C C G TCGA-DU-7309-01A-11D-2086-08 TCGA-DU-7309-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx b47b5427-1159-4b16-a9b5-814d4e7dcffa 1125ff76-1f9b-4396-a4bb-cff53b6dd447 g.chr2:65296819C>G ENST00000377990.2 + 2 444 c.241C>G c.(241-243)Cca>Gca p.P81A CEP68_ENST00000537589.1_Intron|CEP68_ENST00000260569.4_Missense_Mutation_p.P81A|CEP68_ENST00000546106.1_Missense_Mutation_p.P81A NM_015147.2 NP_055962.2 Q76N32 CEP68_HUMAN centrosomal protein 68kDa 81 centrosome organization centrosome breast(1)|endometrium(6)|kidney(8)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 32 AGCCCACCAGCCACAGGCCAG 0.632000 9 53 0 0 1 0 0 MUC17 140453 broad.mit.edu 37 7 100696423 100696423 + Silent SNP G G C TCGA-DU-7309-01A-11D-2086-08 TCGA-DU-7309-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx b47b5427-1159-4b16-a9b5-814d4e7dcffa 1125ff76-1f9b-4396-a4bb-cff53b6dd447 g.chr7:100696423G>C ENST00000306151.4 + 10 13324 c.13260G>C c.(13258-13260)gtG>gtC p.V4420V NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 4420 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) AGAGAGAGGTGAAACGGTGAG 0.567000 7 26 0 0 1 0 0 GNAO1 2775 broad.mit.edu 37 16 56226231 56226231 + Missense_Mutation SNP C C G TCGA-DU-7309-01A-11D-2086-08 TCGA-DU-7309-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx b47b5427-1159-4b16-a9b5-814d4e7dcffa 1125ff76-1f9b-4396-a4bb-cff53b6dd447 g.chr16:56226231C>G ENST00000262494.7 + 1 344 c.84C>G c.(82-84)atC>atG p.I28M GNAO1_ENST00000569295.1_3'UTR|GNAO1_ENST00000262493.6_Missense_Mutation_p.I28M NM_138736.2 NP_620073.2 P09471 GNAO_HUMAN guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O 28 dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|muscle contraction heterotrimeric G-protein complex G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|metabotropic serotonin receptor binding|signal transducer activity breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(4)|prostate(1) 17 all_neural(199;0.159) AGGATGGCATCAGCGCCGCCA 0.637000 29 37 0 0 1 0 0 PYGB 5834 broad.mit.edu 37 20 25261592 25261592 + Missense_Mutation SNP C C G TCGA-DU-7309-01A-11D-2086-08 TCGA-DU-7309-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx b47b5427-1159-4b16-a9b5-814d4e7dcffa 1125ff76-1f9b-4396-a4bb-cff53b6dd447 g.chr20:25261592C>G ENST00000216962.4 + 11 1357 c.1247C>G c.(1246-1248)gCc>gGc p.A416G NM_002862.3 NP_002853.2 P11216 PYGB_HUMAN phosphorylase, glycogen; brain 416 glucose metabolic process|glycogen catabolic process cytoplasm glycogen phosphorylase activity|pyridoxal phosphate binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 31 Pyridoxal Phosphate(DB00114) CAGCACGTGGCCGCGCTGTTT 0.647000 23 151 0 0 1 0 0 OVGP1 5016 broad.mit.edu 37 1 111966210 111966210 + Missense_Mutation SNP T T A TCGA-DU-7309-01A-11D-2086-08 TCGA-DU-7309-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx b47b5427-1159-4b16-a9b5-814d4e7dcffa 1125ff76-1f9b-4396-a4bb-cff53b6dd447 g.chr1:111966210T>A ENST00000369732.3 - 5 493 c.438A>T c.(436-438)agA>agT p.R146S OVGP1_ENST00000540696.1_Missense_Mutation_p.R86S NM_002557.3 NP_002548.3 Q12889 OVGP1_HUMAN oviductal glycoprotein 1, 120kDa 146 chitin catabolic process|female pregnancy|single fertilization transport vesicle cation binding|chitinase activity NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1) 39 all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302) Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14) TGGGGCTGCCTCTTAGTCCAG 0.403000 17 49 0 0 1 0 0 MTTP 4547 broad.mit.edu 37 4 100532549 100532549 + Missense_Mutation SNP T T C TCGA-DU-7309-01A-11D-2086-08 TCGA-DU-7309-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx b47b5427-1159-4b16-a9b5-814d4e7dcffa 1125ff76-1f9b-4396-a4bb-cff53b6dd447 g.chr4:100532549T>C ENST00000457717.1 + 15 2184 c.1928T>C c.(1927-1929)cTa>cCa p.L643P RP11-766F14.1_ENST00000508578.1_RNA|MTTP_ENST00000265517.5_Missense_Mutation_p.L643P|MTTP_ENST00000511045.1_Missense_Mutation_p.L670P NM_000253.2 NP_000244.2 P55157 MTP_HUMAN microsomal triglyceride transfer protein 643 Vitellogenin. lipid metabolic process|lipoprotein metabolic process endoplasmic reticulum lumen lipid binding|lipid transporter activity breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1) 57 OV - Ovarian serous cystadenocarcinoma(123;6.04e-09) Hesperetin(DB01094) TCTGGCATTCTAAGGAGAAGT 0.433000 7 156 0 0 1 0 0 ACSM1 116285 broad.mit.edu 37 16 20648161 20648161 + Missense_Mutation SNP A A G TCGA-DU-7309-01A-11D-2086-08 TCGA-DU-7309-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx b47b5427-1159-4b16-a9b5-814d4e7dcffa 1125ff76-1f9b-4396-a4bb-cff53b6dd447 g.chr16:20648161A>G ENST00000219151.4 - 10 1362 c.152T>C c.(151-153)gTc>gCc p.V51A ACSM1_ENST00000307493.4_Splice_Site_p.V400_splice|ACSM1_ENST00000520010.1_Splice_Site_p.V400_splice Q08AH1 ACSM1_HUMAN acyl-CoA synthetase medium-chain family member 1 400 benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process mitochondrial matrix acyl-CoA ligase activity|ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2) 42 GTCATCAATGACCTGTAGCAA 0.527000 22 45 0 0 1 0 0 KIF22 3835 broad.mit.edu 37 16 29808401 29808401 + Silent SNP C C T TCGA-DU-7309-01A-11D-2086-08 TCGA-DU-7309-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx b47b5427-1159-4b16-a9b5-814d4e7dcffa 1125ff76-1f9b-4396-a4bb-cff53b6dd447 g.chr16:29808401C>T ENST00000561482.1 + 2 691 c.54C>T c.(52-54)ctC>ctT p.L18L KIF22_ENST00000400750.2_5'UTR|KIF22_ENST00000400751.5_Silent_p.L18L|KIF22_ENST00000569382.2_Silent_p.L18L|KIF22_ENST00000160827.4_Silent_p.L86L NM_001256270.1 NP_001243199.1 Q14807 KIF22_HUMAN kinesin family member 22 86 blood coagulation|DNA repair|microtubule-based movement|mitosis cytosol|kinetochore|microtubule|nucleus ATP binding|DNA binding|microtubule motor activity|protein binding endometrium(1)|large_intestine(1)|lung(11)|skin(1) 14 AGGAGACTCTCAAATACCAGT 0.587000 4 110 0 0 1 0 0 ICAM5 7087 broad.mit.edu 37 19 10402433 10402433 + Silent SNP C C T TCGA-DU-7309-01A-11D-2086-08 TCGA-DU-7309-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx b47b5427-1159-4b16-a9b5-814d4e7dcffa 1125ff76-1f9b-4396-a4bb-cff53b6dd447 g.chr19:10402433C>T ENST00000221980.4 + 3 684 c.621C>T c.(619-621)caC>caT p.H207H NM_003259.3 NP_003250.3 Q9UMF0 ICAM5_HUMAN intercellular adhesion molecule 5, telencephalin 207 Ig-like C2-type 2. cell-cell adhesion integral to plasma membrane breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1) 21 OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06) TGCGGCCGCACGGACTGGGAC 0.672000 3 64 0 0 1 0 0 IFIT5 24138 broad.mit.edu 37 10 91178137 91178137 + Missense_Mutation SNP A A G TCGA-DU-7309-01A-11D-2086-08 TCGA-DU-7309-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx b47b5427-1159-4b16-a9b5-814d4e7dcffa 1125ff76-1f9b-4396-a4bb-cff53b6dd447 g.chr10:91178137A>G ENST00000371795.4 + 2 1394 c.1181A>G c.(1180-1182)aAt>aGt p.N394S IFIT5_ENST00000416601.1_Missense_Mutation_p.N346S NM_012420.2 NP_036552.1 Q13325 IFIT5_HUMAN interferon-induced protein with tetratricopeptide repeats 5 394 binding endometrium(1)|large_intestine(4)|lung(4) 9 AAATCAGAAAATACTGCCATC 0.423000 3 53 0 0 1 0 0 SLC39A13 91252 broad.mit.edu 37 11 47434972 47434972 + Missense_Mutation SNP G G A TCGA-DU-7309-01A-11D-2086-08 TCGA-DU-7309-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx b47b5427-1159-4b16-a9b5-814d4e7dcffa 1125ff76-1f9b-4396-a4bb-cff53b6dd447 g.chr11:47434972G>A ENST00000524928.1 + 4 569 c.559G>A c.(559-561)Gct>Act p.A187T SLC39A13_ENST00000362021.4_Missense_Mutation_p.A187T|SLC39A13_ENST00000533076.1_Missense_Mutation_p.A187T|SLC39A13_ENST00000354884.4_Missense_Mutation_p.A187T|SLC39A13_ENST00000529740.1_3'UTR Q96H72 S39AD_HUMAN solute carrier family 39 (zinc transporter), member 13 187 Poly-Ala. zinc ion transport integral to membrane metal ion transmembrane transporter activity breast(1)|kidney(1)|lung(1)|prostate(1) 4 Lung(87;0.0936) AGACCCCACTGCTGCTGCCGC 0.657000 13 31 0 0 1 0 0 DNAH3 55567 broad.mit.edu 37 16 20990739 20990739 + Silent SNP C C T TCGA-DU-7309-01A-11D-2086-08 TCGA-DU-7309-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx b47b5427-1159-4b16-a9b5-814d4e7dcffa 1125ff76-1f9b-4396-a4bb-cff53b6dd447 g.chr16:20990739C>T ENST00000261383.3 - 50 7988 c.7989G>A c.(7987-7989)acG>acA p.T2663T DNAH3_ENST00000415178.1_3'UTR NM_017539.1 NP_060009.1 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 2663 Stalk (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6) 202 GBM - Glioblastoma multiforme(48;0.207) TATTCAGGAGCGTCTTGAAGG 0.478000 6 87 0 0 1 0 0 HCG17 0 broad.mit.edu 37 6 30231249 30231249 + RNA SNP G G A TCGA-DU-7309-01A-11D-2086-08 TCGA-DU-7309-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx b47b5427-1159-4b16-a9b5-814d4e7dcffa 1125ff76-1f9b-4396-a4bb-cff53b6dd447 g.chr6:30231249G>A ENST00000453558.1 - 0 126 HLA-L_ENST00000463348.1_RNA TATTTCCAGGGCTCTTTCTTG 0.423000 3 34 0 0 1 0 0 DISP2 85455 broad.mit.edu 37 15 40661464 40661464 + Missense_Mutation SNP C C T TCGA-DU-7309-01A-11D-2086-08 TCGA-DU-7309-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx b47b5427-1159-4b16-a9b5-814d4e7dcffa 1125ff76-1f9b-4396-a4bb-cff53b6dd447 g.chr15:40661464C>T ENST00000267889.3 + 8 3238 c.3151C>T c.(3151-3153)Cgt>Tgt p.R1051C RP11-64K12.4_ENST00000558421.1_RNA NM_033510.1 NP_277045.1 A7MBM2 DISP2_HUMAN dispatched homolog 2 (Drosophila) 1051 smoothened signaling pathway integral to membrane breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(4) 30 all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247) CCGCCTGAGCCGTGTGGCCTT 0.632000 5 167 0 0 1 0 0 DOPEY1 23033 broad.mit.edu 37 6 83863326 83863326 + Missense_Mutation SNP C C G TCGA-DU-7309-01A-11D-2086-08 TCGA-DU-7309-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx b47b5427-1159-4b16-a9b5-814d4e7dcffa 1125ff76-1f9b-4396-a4bb-cff53b6dd447 g.chr6:83863326C>G ENST00000349129.2 + 31 6486 c.6226C>G c.(6226-6228)Ctc>Gtc p.L2076V DOPEY1_ENST00000369739.3_Missense_Mutation_p.L2067V|DOPEY1_ENST00000237163.5_Missense_Mutation_p.L2006V|DOPEY1_ENST00000484282.1_3'UTR NM_015018.3 NP_055833.2 Q5JWR5 DOP1_HUMAN dopey family member 1 2076 protein transport breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 67 all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203) BRCA - Breast invasive adenocarcinoma(397;0.053) TGTGCCCTACCTCAGAAATCA 0.313000 6 62 0 0 1 0 0 VAV1 7409 broad.mit.edu 37 19 6828446 6828446 + Missense_Mutation SNP C C T TCGA-DU-7309-01A-11D-2086-08 TCGA-DU-7309-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx b47b5427-1159-4b16-a9b5-814d4e7dcffa 1125ff76-1f9b-4396-a4bb-cff53b6dd447 g.chr19:6828446C>T ENST00000304076.2 + 11 1134 c.1040C>T c.(1039-1041)aCg>aTg p.T347M VAV1_ENST00000599806.1_Missense_Mutation_p.T292M|VAV1_ENST00000596764.1_Missense_Mutation_p.T315M|VAV1_ENST00000602142.1_Missense_Mutation_p.T347M|VAV1_ENST00000539284.1_Missense_Mutation_p.T250M NM_001258206.1 NP_001245135.1 P15498 VAV_HUMAN vav 1 guanine nucleotide exchange factor 347 DH. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation cytosol|plasma membrane metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity p.T347M(1) biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2) 62 GTGAAACACACGCAGGAGGCG 0.622000 5 56 0 0 1 0 0 NF2 4771 broad.mit.edu 37 22 30077486 30077486 + Missense_Mutation SNP G G A TCGA-DU-7309-01A-11D-2086-08 TCGA-DU-7309-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx b47b5427-1159-4b16-a9b5-814d4e7dcffa 1125ff76-1f9b-4396-a4bb-cff53b6dd447 g.chr22:30077486G>A ENST00000338641.4 + 15 2074 c.1633G>A c.(1633-1635)Gaa>Aaa p.E545K NF2_ENST00000397789.3_Missense_Mutation_p.E545K|NF2_ENST00000361676.4_Missense_Mutation_p.E503K|NF2_ENST00000403999.3_Missense_Mutation_p.E545K|NF2_ENST00000353887.4_Missense_Mutation_p.E462K|NF2_ENST00000413209.2_Intron|NF2_ENST00000347330.5_3'UTR|NF2_ENST00000361166.4_Missense_Mutation_p.E545K|NF2_ENST00000334961.7_Missense_Mutation_p.E462K|NF2_ENST00000361452.4_Missense_Mutation_p.E504K|NF2_ENST00000403435.1_Missense_Mutation_p.E516K NM_000268.3|NM_016418.5|NM_181832.2 NP_000259.1|NP_057502.2|NP_861970.1 P35240 MERL_HUMAN neurofibromin 2 (merlin) 545 actin cytoskeleton organization|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of cell-matrix adhesion|negative regulation of DNA replication|negative regulation of tyrosine phosphorylation of Stat3 protein|negative regulation of tyrosine phosphorylation of Stat5 protein|positive regulation of stress fiber assembly|regulation of hippo signaling cascade|Schwann cell proliferation cytoskeleton|early endosome|extrinsic to membrane|filopodium membrane|nucleolus|perinuclear region of cytoplasm|ruffle membrane cytoskeletal protein binding|protein binding p.?(3)|p.K525fs*18(1) NS(1)|bone(2)|breast(5)|central_nervous_system(21)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(17)|large_intestine(9)|liver(1)|lung(9)|meninges(372)|ovary(2)|pituitary(1)|pleura(9)|prostate(1)|skin(7)|soft_tissue(303)|stomach(2)|thyroid(2)|upper_aerodigestive_tract(1)|urinary_tract(4) 776 ACTCAAGACAGAAATCGAGGC 0.498000 """D, Mis, N, F, S, O""" """meningioma, acoustic neuroma, renal """ """meningioma, acoustic neuroma""" Neurofibromatosis, type 2 5 134 0 0 1 0 0 MDM2 4193 broad.mit.edu 37 12 69229630 69229630 + Missense_Mutation SNP G G C TCGA-DU-7309-01A-11D-2086-08 TCGA-DU-7309-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx b47b5427-1159-4b16-a9b5-814d4e7dcffa 1125ff76-1f9b-4396-a4bb-cff53b6dd447 g.chr12:69229630G>C ENST00000462284.1 + 9 1008 c.706G>C c.(706-708)Gaa>Caa p.E236Q MDM2_ENST00000545204.1_Intron|MDM2_ENST00000428863.2_Missense_Mutation_p.E35Q|MDM2_ENST00000393410.1_Intron|MDM2_ENST00000393412.3_Intron|MDM2_ENST00000393413.3_Intron|MDM2_ENST00000348801.2_Missense_Mutation_p.E30Q|MDM2_ENST00000544561.1_Intron|MDM2_ENST00000540827.1_Missense_Mutation_p.E35Q|MDM2_ENST00000360430.2_Missense_Mutation_p.E35Q|MDM2_ENST00000356290.4_Missense_Mutation_p.E60Q|MDM2_ENST00000350057.5_Missense_Mutation_p.E205Q|MDM2_ENST00000299252.4_Missense_Mutation_p.E60Q|MDM2_ENST00000478070.1_Intron|MDM2_ENST00000258148.7_Missense_Mutation_p.E181Q|MDM2_ENST00000258149.5_Missense_Mutation_p.E175Q|MDM2_ENST00000517852.1_Intron NM_002392.4 NP_002383.2 Q00987 MDM2_HUMAN MDM2 oncogene, E3 ubiquitin protein ligase 230 ARF-binding.|Interaction with MTBP (By similarity). cellular response to hypoxia|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|establishment of protein localization|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell cycle arrest|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mitotic cell cycle|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein complex assembly|protein destabilization|protein localization to nucleus|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to antibiotic|synaptic transmission cytosol|endocytic vesicle membrane|insoluble fraction|nucleolus|nucleoplasm|plasma membrane|protein complex enzyme binding|identical protein binding|p53 binding|ubiquitin-protein ligase activity|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(8)|prostate(1)|urinary_tract(1) 19 all_cancers(1;8.46e-121)|all_epithelial(5;3.21e-36)|Lung NSC(4;2.16e-33)|all_lung(4;3.03e-31)|Glioma(1;1.9e-09)|Breast(13;1.59e-06)|all_neural(1;1.03e-05)|Melanoma(1;0.0171)|Renal(347;0.0684) all cancers(2;8.67e-65)|GBM - Glioblastoma multiforme(2;8.89e-62)|BRCA - Breast invasive adenocarcinoma(5;2.43e-08)|Lung(24;1.5e-05)|LUAD - Lung adenocarcinoma(15;8.5e-05)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143) TGGTGTAAGTGAACATTCAGG 0.363000 A """sarcoma, glioma, colorectal, other""" 4 112 0 0 1 0 0 NOA1 84273 broad.mit.edu 37 4 57834617 57834617 + Missense_Mutation SNP C C G TCGA-DU-7309-01A-11D-2086-08 TCGA-DU-7309-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx b47b5427-1159-4b16-a9b5-814d4e7dcffa 1125ff76-1f9b-4396-a4bb-cff53b6dd447 g.chr4:57834617C>G ENST00000264230.4 - 4 2817 c.1580G>C c.(1579-1581)aGa>aCa p.R527T NM_032313.2 NP_115689.1 Q8NC60 CD014_HUMAN nitric oxide associated 1 527 GTP binding CACAAAAGTTCTTGGAACAAT 0.328000 4 69 0 0 1 0 0 HYAL2 8692 broad.mit.edu 37 3 50357532 50357532 + Missense_Mutation SNP G G A TCGA-DU-7309-01A-11D-2086-08 TCGA-DU-7309-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx b47b5427-1159-4b16-a9b5-814d4e7dcffa 1125ff76-1f9b-4396-a4bb-cff53b6dd447 g.chr3:50357532G>A ENST00000447092.1 - 1 2681 c.389C>T c.(388-390)gCg>gTg p.A130V HYAL2_ENST00000442581.1_Missense_Mutation_p.A130V|TUSC2_ENST00000462137.1_5'UTR|HYAL2_ENST00000357750.4_Missense_Mutation_p.A130V|HYAL2_ENST00000395139.3_Missense_Mutation_p.A130V Q12891 HYAL2_HUMAN hyaluronoglucosaminidase 2 130 anchored to membrane|lysosome|plasma membrane hyalurononglucosaminidase activity|receptor activity breast(1)|endometrium(2)|kidney(1)|ovary(1)|prostate(1)|skin(1) 7 BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605) Hyaluronidase(DB00070) GTCGATGACCGCCAGCCCCGC 0.592000 4 130 0 0 1 0 0 PPP1CB 5500 broad.mit.edu 37 2 29016792 29016792 + Missense_Mutation SNP A A T TCGA-DU-7309-01A-11D-2086-08 TCGA-DU-7309-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx b47b5427-1159-4b16-a9b5-814d4e7dcffa 1125ff76-1f9b-4396-a4bb-cff53b6dd447 g.chr2:29016792A>T ENST00000395366.2 + 7 1080 c.808A>T c.(808-810)Aat>Tat p.N270Y PPP1CB_ENST00000358506.2_Missense_Mutation_p.N270Y|PPP1CB_ENST00000296122.6_Missense_Mutation_p.N270Y|SPDYA_ENST00000462832.1_3'UTR NM_002709.2 NP_002700.1 P62140 PP1B_HUMAN protein phosphatase 1, catalytic subunit, beta isozyme 270 cell cycle|cell division|glycogen metabolic process|triglyceride catabolic process MLL5-L complex|nucleolus|PTW/PP1 phosphatase complex metal ion binding|myosin phosphatase activity|myosin-light-chain-phosphatase activity|protein binding cervix(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1) 9 Acute lymphoblastic leukemia(172;0.155) TTCAGCCCCAAATTACTGTGG 0.348000 14 39 0 0 1 0 0 UGT2B11 10720 broad.mit.edu 37 4 70080096 70080096 + Silent SNP G G A TCGA-DU-7309-01A-11D-2086-08 TCGA-DU-7309-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx b47b5427-1159-4b16-a9b5-814d4e7dcffa 1125ff76-1f9b-4396-a4bb-cff53b6dd447 g.chr4:70080096G>A ENST00000446444.1 - 1 353 c.345C>T c.(343-345)atC>atT p.I115I RP11-704M14.1_ENST00000504301.1_RNA|RP11-704M14.1_ENST00000505646.1_RNA NM_001073.1 NP_001064.1 O75310 UDB11_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B11 115 estrogen metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 42 ATTCCCACAGGATTTCTTGTT 0.299000 7 22 0 0 1 0 0 TFCP2 7024 broad.mit.edu 37 12 51497961 51497961 + Missense_Mutation SNP C C G TCGA-DU-7309-01A-11D-2086-08 TCGA-DU-7309-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx b47b5427-1159-4b16-a9b5-814d4e7dcffa 1125ff76-1f9b-4396-a4bb-cff53b6dd447 g.chr12:51497961C>G ENST00000307660.4 - 8 1510 c.790G>C c.(790-792)Gag>Cag p.E264Q TFCP2_ENST00000257915.5_Missense_Mutation_p.E315Q|TFCP2_ENST00000549867.1_Intron|TFCP2_ENST00000548115.1_Missense_Mutation_p.E264Q NM_001173453.1 NP_001166924.1 Q12800 TFCP2_HUMAN transcription factor CP2 315 DNA-binding. regulation of transcription from RNA polymerase II promoter nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1) 23 GGGGGTGGCTCTGGCTGGTGG 0.418000 6 135 0 0 1 0 0 PRG4 10216 broad.mit.edu 37 1 186276981 186276981 + Silent SNP A A G TCGA-DU-7309-01A-11D-2086-08 TCGA-DU-7309-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx b47b5427-1159-4b16-a9b5-814d4e7dcffa 1125ff76-1f9b-4396-a4bb-cff53b6dd447 g.chr1:186276981A>G ENST00000445192.2 + 7 2175 c.2130A>G c.(2128-2130)aaA>aaG p.K710K PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367485.4_Silent_p.K617K|PRG4_ENST00000367486.3_Silent_p.K667K|PRG4_ENST00000367483.4_Silent_p.K669K NM_005807.3 NP_005798.2 Q92954 PRG4_HUMAN proteoglycan 4 710 59 X 8 AA repeats of K-X-P-X-P-T-T-X. cell proliferation|immune response extracellular region polysaccharide binding|protein binding|scavenger receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1) 102 CTACCCCTAAAGGGACTGCTC 0.582000 3 102 0 0 1 0 0 PCMT1 5110 broad.mit.edu 37 6 150111138 150111138 + Missense_Mutation SNP A A G TCGA-DU-7309-01A-11D-2086-08 TCGA-DU-7309-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx b47b5427-1159-4b16-a9b5-814d4e7dcffa 1125ff76-1f9b-4396-a4bb-cff53b6dd447 g.chr6:150111138A>G ENST00000464889.1 + 4 699 c.415A>G c.(415-417)Aaa>Gaa p.K139E PCMT1_ENST00000544496.1_Missense_Mutation_p.K46E|PCMT1_ENST00000367378.1_Missense_Mutation_p.K139E|PCMT1_ENST00000367384.2_Missense_Mutation_p.K139E|PCMT1_ENST00000367380.5_Missense_Mutation_p.K81E protein-L-isoaspartate (D-aspartate) O-methyltransferase kidney(1)|large_intestine(2)|lung(4)|ovary(1) 8 Ovarian(120;0.0907) BRCA - Breast invasive adenocarcinoma(37;0.221) OV - Ovarian serous cystadenocarcinoma(155;5.63e-13)|GBM - Glioblastoma multiforme(68;0.207) TGAAGGAGCTAAAGCTCTTGA 0.378000 40 73 0 0 1 0 0 PGLYRP4 57115 broad.mit.edu 37 1 153315567 153315567 + Splice_Site SNP T T C TCGA-DU-7309-01A-11D-2086-08 TCGA-DU-7309-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx b47b5427-1159-4b16-a9b5-814d4e7dcffa 1125ff76-1f9b-4396-a4bb-cff53b6dd447 g.chr1:153315567T>C ENST00000368739.3 - 5 817 c.460_splice c.e5+1 p.K153_splice PGLYRP4_ENST00000359650.5_Splice_Site_p.K157_splice Q96LB8 PGRP4_HUMAN peptidoglycan recognition protein 4 157 defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process extracellular region|intracellular|membrane N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding breast(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1) 23 all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.171) AACTGTTACCTTTCTTAGTGC 0.478000 19 25 0 0 1 0 0 ABHD16A 7920 broad.mit.edu 37 6 31668779 31668779 + Missense_Mutation SNP G G A TCGA-DU-7309-01A-11D-2086-08 TCGA-DU-7309-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx b47b5427-1159-4b16-a9b5-814d4e7dcffa 1125ff76-1f9b-4396-a4bb-cff53b6dd447 g.chr6:31668779G>A ENST00000395952.3 - 4 445 c.283C>T c.(283-285)Ccg>Tcg p.P95S ABHD16A_ENST00000440843.2_Missense_Mutation_p.P62S|XXbac-BPG32J3.20_ENST00000461287.1_3'UTR|ABHD16A_ENST00000538874.1_5'UTR|ABHD16A_ENST00000375842.4_5'UTR NM_021160.2 NP_066983.1 O95870 ABHGA_HUMAN abhydrolase domain containing 16A 95 integral to membrane hydrolase activity|protein binding endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1) 10 TGAGAAAACGGCACCACTTTG 0.537000 12 61 0 0 1 0 0 GABRA6 2559 broad.mit.edu 37 5 161128598 161128598 + Missense_Mutation SNP C C T TCGA-DU-7309-01A-11D-2086-08 TCGA-DU-7309-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx b47b5427-1159-4b16-a9b5-814d4e7dcffa 1125ff76-1f9b-4396-a4bb-cff53b6dd447 g.chr5:161128598C>T ENST00000523217.1 + 9 1393 c.1151C>T c.(1150-1152)gCg>gTg p.A384V GABRA6_ENST00000274545.5_Missense_Mutation_p.A394V NM_000811.2 NP_000802.2 Q16445 GBRA6_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 6 394 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2) 57 Renal(175;0.00259) Medulloblastoma(196;0.0208)|all_neural(177;0.0672) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) CTCACGAGAGCGCCCATCTTA 0.473000 TCGA Ovarian(5;0.080) 16 55 0 0 1 0 0 CEP68 23177 broad.mit.edu 37 2 65296821 65296821 + Silent SNP A A G TCGA-DU-7309-01A-11D-2086-08 TCGA-DU-7309-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx b47b5427-1159-4b16-a9b5-814d4e7dcffa 1125ff76-1f9b-4396-a4bb-cff53b6dd447 g.chr2:65296821A>G ENST00000377990.2 + 2 446 c.243A>G c.(241-243)ccA>ccG p.P81P CEP68_ENST00000537589.1_Intron|CEP68_ENST00000260569.4_Silent_p.P81P|CEP68_ENST00000546106.1_Silent_p.P81P NM_015147.2 NP_055962.2 Q76N32 CEP68_HUMAN centrosomal protein 68kDa 81 centrosome organization centrosome breast(1)|endometrium(6)|kidney(8)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 32 CCCACCAGCCACAGGCCAGTG 0.632000 10 53 0 0 1 0 0 SEMA6A 57556 broad.mit.edu 37 5 115803413 115803413 + Missense_Mutation SNP G G C TCGA-DU-7309-01A-11D-2086-08 TCGA-DU-7309-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx b47b5427-1159-4b16-a9b5-814d4e7dcffa 1125ff76-1f9b-4396-a4bb-cff53b6dd447 g.chr5:115803413G>C ENST00000343348.6 - 18 2547 c.1760C>G c.(1759-1761)aCc>aGc p.T587S SEMA6A_ENST00000257414.8_Missense_Mutation_p.T604S|CTB-118N6.3_ENST00000510682.1_RNA|SEMA6A_ENST00000510263.1_Missense_Mutation_p.T587S|SEMA6A_ENST00000513137.1_Missense_Mutation_p.T14S|CTB-118N6.3_ENST00000508424.1_RNA|CTB-118N6.3_ENST00000514214.1_RNA|CTB-118N6.3_ENST00000508640.1_RNA|SEMA6A_ENST00000282394.6_Intron NM_020796.3 NP_065847.1 Q9H2E6 SEM6A_HUMAN sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A 587 apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis axon|integral to membrane|plasma membrane receptor activity central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 31 all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203) OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151) ATCTGATGTGGTTGTGCTGGG 0.522000 13 26 0 0 1 0 0 CGB7 94027 broad.mit.edu 37 19 49557632 49557632 + Silent SNP G G T TCGA-DU-7309-01A-11D-2086-08 TCGA-DU-7309-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx b47b5427-1159-4b16-a9b5-814d4e7dcffa 1125ff76-1f9b-4396-a4bb-cff53b6dd447 g.chr19:49557632G>T ENST00000597853.1 - 5 3285 c.414C>A c.(412-414)tcC>tcA p.S138S CGB7_ENST00000377280.3_Silent_p.S138S|CGB7_ENST00000596965.1_Silent_p.S138S|CGB7_ENST00000356213.4_Silent_p.S136S chorionic gonadotropin, beta polypeptide 7 lung(3)|urinary_tract(2) 5 all_epithelial(76;9.62e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427) TTGAGGAAGAGGAGGCCTGGA 0.637000 3 61 0.00024832 0.000255031 1 1 0 OR2A25 392138 broad.mit.edu 37 7 143771775 143771775 + Missense_Mutation SNP G G A TCGA-DU-7309-01A-11D-2086-08 TCGA-DU-7309-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx b47b5427-1159-4b16-a9b5-814d4e7dcffa 1125ff76-1f9b-4396-a4bb-cff53b6dd447 g.chr7:143771775G>A ENST00000408898.2 + 1 501 c.463G>A c.(463-465)Gcc>Acc p.A155T NM_001004488.1 NP_001004488.1 A4D2G3 O2A25_HUMAN olfactory receptor, family 2, subfamily A, member 25 155 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1) 24 Melanoma(164;0.0783) AGTCTTATTGGCCCTTGTCCA 0.458000 6 138 0 0 1 0 0 UMODL1 89766 broad.mit.edu 37 21 43519274 43519274 + Silent SNP G G A TCGA-DU-7309-01A-11D-2086-08 TCGA-DU-7309-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx b47b5427-1159-4b16-a9b5-814d4e7dcffa 1125ff76-1f9b-4396-a4bb-cff53b6dd447 g.chr21:43519274G>A ENST00000400427.1 + 7 1350 c.954G>A c.(952-954)acG>acA p.T318T UMODL1_ENST00000400424.1_Silent_p.T318T|UMODL1_ENST00000408989.2_Silent_p.T390T|UMODL1_ENST00000408910.2_Silent_p.T390T NM_001199527.1 NP_001186456.1 Q5DID0 UROL1_HUMAN uromodulin-like 1 390 Fibronectin type-III 1. cytoplasm|extracellular region|integral to membrane|plasma membrane calcium ion binding|peptidase inhibitor activity breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 47 TCTCCACCACGCTGACCATCA 0.607000 3 64 0 0 1 0 0 C7orf10 79783 broad.mit.edu 37 7 40899974 40899974 + Missense_Mutation SNP G G A TCGA-DU-7309-01A-11D-2086-08 TCGA-DU-7309-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx b47b5427-1159-4b16-a9b5-814d4e7dcffa 1125ff76-1f9b-4396-a4bb-cff53b6dd447 g.chr7:40899974G>A ENST00000309930.5 + 15 1336 c.1312G>A c.(1312-1314)Ggg>Agg p.G438R C7orf10_ENST00000401647.2_Missense_Mutation_p.G364R|C7orf10_ENST00000335693.4_Missense_Mutation_p.G412R|C7orf10_ENST00000464028.1_3'UTR NM_001193311.1|NM_024728.2 NP_001180240.1|NP_079004.1 Q9HAC7 CG010_HUMAN chromosome 7 open reading frame 10 412 transferase activity endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2) 18 CCCGCTGCTCGGGCAGCACAC 0.567000 31 140 0 0 1 0 0 PA2G4 5036 broad.mit.edu 37 12 56501319 56501319 + Silent SNP A A G TCGA-DU-7309-01A-11D-2086-08 TCGA-DU-7309-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx b47b5427-1159-4b16-a9b5-814d4e7dcffa 1125ff76-1f9b-4396-a4bb-cff53b6dd447 g.chr12:56501319A>G ENST00000303305.6 + 5 827 c.408A>G c.(406-408)acA>acG p.T136T RP11-603J24.9_ENST00000548861.1_Silent_p.T117T|RP11-603J24.17_ENST00000548595.1_RNA|PA2G4_ENST00000552766.1_Silent_p.T136T NM_006191.2 NP_006182.2 Q9UQ80 PA2G4_HUMAN proliferation-associated 2G4, 38kDa 136 cell cycle arrest|cell proliferation|negative regulation of transcription, DNA-dependent|regulation of translation|rRNA processing cytoplasm|nucleolus|ribonucleoprotein complex DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|ubiquitin protein ligase binding NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1) 12 OV - Ovarian serous cystadenocarcinoma(18;0.0739) CCCAAGTAACAGGGAGGAAAG 0.453000 20 128 0 0 1 0 0 ST6GAL2 84620 broad.mit.edu 37 2 107460056 107460056 + Silent SNP C C T TCGA-DU-7309-01A-11D-2086-08 TCGA-DU-7309-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx b47b5427-1159-4b16-a9b5-814d4e7dcffa 1125ff76-1f9b-4396-a4bb-cff53b6dd447 g.chr2:107460056C>T ENST00000409382.3 - 2 988 c.378G>A c.(376-378)ccG>ccA p.P126P ST6GAL2_ENST00000361686.4_Silent_p.P126P|ST6GAL2_ENST00000409087.3_Silent_p.P126P NM_001142351.1 NP_001135823.1 Q96JF0 SIAT2_HUMAN ST6 beta-galactosamide alpha-2,6-sialyltranferase 2 126 growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation Golgi cisterna membrane|integral to Golgi membrane beta-galactoside alpha-2,6-sialyltransferase activity autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 65 CGTCATCCTCCGGGTAGAAAG 0.552000 5 145 0 0 1 0 0 MBNL3 55796 broad.mit.edu 37 X 131524902 131524902 + Missense_Mutation SNP C C G TCGA-DU-7309-01A-11D-2086-08 TCGA-DU-7309-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx b47b5427-1159-4b16-a9b5-814d4e7dcffa 1125ff76-1f9b-4396-a4bb-cff53b6dd447 g.chrX:131524902C>G ENST00000538204.1 - 4 659 c.594G>C c.(592-594)caG>caC p.Q198H RP5-842K24.2_ENST00000441399.1_RNA|MBNL3_ENST00000370844.1_Missense_Mutation_p.Q152H|MBNL3_ENST00000370853.3_Missense_Mutation_p.Q248H|MBNL3_ENST00000370839.3_Missense_Mutation_p.Q248H|MBNL3_ENST00000473364.1_5'UTR|MBNL3_ENST00000394311.2_Missense_Mutation_p.Q152H|MBNL3_ENST00000370849.3_Missense_Mutation_p.Q198H|MBNL3_ENST00000370857.3_Missense_Mutation_p.Q248H|RP5-842K24.2_ENST00000421483.1_RNA NM_001170702.1 NP_001164173.1 Q9NUK0 MBNL3_HUMAN muscleblind-like splicing regulator 3 248 mRNA processing|multicellular organismal development|regulation of RNA splicing|RNA splicing Golgi apparatus|nucleus nucleic acid binding|zinc ion binding NS(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|prostate(2) 16 Acute lymphoblastic leukemia(192;0.000127) AATGGTTCATCTGATGATGAG 0.458000 5 79 0 0 1 0 0 TLN2 83660 broad.mit.edu 37 15 63127959 63127959 + Silent SNP T T C TCGA-DU-7309-01A-11D-2086-08 TCGA-DU-7309-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx b47b5427-1159-4b16-a9b5-814d4e7dcffa 1125ff76-1f9b-4396-a4bb-cff53b6dd447 g.chr15:63127959T>C ENST00000561311.1 + 55 7382 c.7152T>C c.(7150-7152)gcT>gcC p.A2384A RP11-1069G10.1_ENST00000558404.1_RNA|TLN2_ENST00000306829.6_Silent_p.A2384A Q9Y4G6 TLN2_HUMAN talin 2 2384 I/LWEQ. cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse actin binding|insulin receptor binding|structural constituent of cytoskeleton NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5) 99 CTGCCAATGCTGCAGACGACG 0.602000 40 194 0 0 1 0 0 ERC1 23085 broad.mit.edu 37 12 1219448 1219448 + Missense_Mutation SNP G G A TCGA-DU-7309-01A-11D-2086-08 TCGA-DU-7309-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx b47b5427-1159-4b16-a9b5-814d4e7dcffa 1125ff76-1f9b-4396-a4bb-cff53b6dd447 g.chr12:1219448G>A ENST00000397203.2 + 5 1658 c.1252G>A c.(1252-1254)Gaa>Aaa p.E418K ERC1_ENST00000355446.5_Missense_Mutation_p.E418K|ERC1_ENST00000536573.2_3'UTR|ERC1_ENST00000360905.4_Missense_Mutation_p.E418K|ERC1_ENST00000546231.2_Missense_Mutation_p.E418K|ERC1_ENST00000543086.3_Missense_Mutation_p.E418K|ERC1_ENST00000589028.1_Missense_Mutation_p.E418K Q8IUD2 RB6I2_HUMAN ELKS/RAB6-interacting/CAST family member 1 418 I-kappaB phosphorylation|multicellular organismal development|positive regulation of anti-apoptosis|positive regulation of NF-kappaB transcription factor activity|protein transport Golgi membrane|IkappaB kinase complex|presynaptic membrane leucine zipper domain binding NS(1)|breast(2)|cervix(2)|endometrium(2)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 38 all_epithelial(11;0.0698)|Ovarian(42;0.107) OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567) GAGTACTGAGGAAAGGGAAGA 0.388000 7 52 0 0 1 0 0 SPATA31E1 286234 broad.mit.edu 37 9 90500727 90500727 + Missense_Mutation SNP A A G TCGA-DU-7309-01A-11D-2086-08 TCGA-DU-7309-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx b47b5427-1159-4b16-a9b5-814d4e7dcffa 1125ff76-1f9b-4396-a4bb-cff53b6dd447 g.chr9:90500727A>G ENST00000325643.5 + 4 1391 c.1325A>G c.(1324-1326)gAc>gGc p.D442G NM_178828.4 NP_849150.3 SPATA31 subfamily E, member 1 CTTTTCTGGGACCTCCCCTCT 0.567000 6 146 0 0 1 0 0 CASZ1 54897 broad.mit.edu 37 1 10703273 10703273 + Missense_Mutation SNP G G A TCGA-DU-7309-01A-11D-2086-08 TCGA-DU-7309-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx b47b5427-1159-4b16-a9b5-814d4e7dcffa 1125ff76-1f9b-4396-a4bb-cff53b6dd447 g.chr1:10703273G>A ENST00000377022.3 - 19 4281 c.3964C>T c.(3964-3966)Cgg>Tgg p.R1322W RP4-734G22.3_ENST00000606802.1_RNA NM_001079843.1 NP_001073312.1 Q86V15 CASZ1_HUMAN castor zinc finger 1 1322 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1) 54 Ovarian(185;0.203)|all_lung(157;0.204) Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255) STAD - Stomach adenocarcinoma(5;0.0224) UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623) ATGTGCTTCCGCGCGTGGGAG 0.642000 4 109 0 0 1 0 0 CD209 30835 broad.mit.edu 37 19 7810766 7810766 + Missense_Mutation SNP C C T TCGA-DU-7309-01A-11D-2086-08 TCGA-DU-7309-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx b47b5427-1159-4b16-a9b5-814d4e7dcffa 1125ff76-1f9b-4396-a4bb-cff53b6dd447 g.chr19:7810766C>T ENST00000315599.7 - 4 408 c.386G>A c.(385-387)cGg>cAg p.R129Q CD209_ENST00000315591.8_Missense_Mutation_p.R105Q|CD209_ENST00000601256.1_Missense_Mutation_p.R105Q|CD209_ENST00000354397.6_Missense_Mutation_p.R129Q|CD209_ENST00000394161.5_Intron|CD209_ENST00000593821.1_Missense_Mutation_p.R85Q|CD209_ENST00000301357.8_Missense_Mutation_p.R85Q|CD209_ENST00000601951.1_Missense_Mutation_p.R105Q|CD209_ENST00000394173.4_Intron|CD209_ENST00000204801.8_Missense_Mutation_p.R85Q|CD209_ENST00000593660.1_Missense_Mutation_p.R105Q|CD209_ENST00000602261.1_Missense_Mutation_p.R129Q NM_001144895.1|NM_001144897.1|NM_021155.3 NP_001138367.1|NP_001138369.1|NP_066978.1 Q9NNX6 CD209_HUMAN CD209 molecule 129 7 X approximate tandem repeats. cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor cytoplasm|extracellular region|integral to membrane|plasma membrane mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 AGCCTTCAGCCGGGTCAGCTC 0.567000 5 203 0 0 1 0 0 MYOM2 9172 broad.mit.edu 37 8 2040226 2040226 + Silent SNP G G A TCGA-DU-7309-01A-11D-2086-08 TCGA-DU-7309-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx b47b5427-1159-4b16-a9b5-814d4e7dcffa 1125ff76-1f9b-4396-a4bb-cff53b6dd447 g.chr8:2040226G>A ENST00000262113.4 + 16 2022 c.1881G>A c.(1879-1881)tcG>tcA p.S627S MYOM2_ENST00000523438.1_Silent_p.S52S NM_003970.2 NP_003961.2 P54296 MYOM2_HUMAN myomesin 2 627 Fibronectin type-III 3. muscle contraction myosin filament structural constituent of muscle autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3) 104 Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217) BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179) CCAAGACGTCGGTGGTGGTGC 0.577000 16 174 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7577538 7577538 + Missense_Mutation SNP C C T rs11540652 TCGA-DU-7309-01A-11D-2086-08 TCGA-DU-7309-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx b47b5427-1159-4b16-a9b5-814d4e7dcffa 1125ff76-1f9b-4396-a4bb-cff53b6dd447 g.chr17:7577538C>T ENST00000420246.2 - 7 875 c.743G>A c.(742-744)cGg>cAg p.R248Q TP53_ENST00000359597.4_Missense_Mutation_p.R248Q|TP53_ENST00000445888.2_Missense_Mutation_p.R248Q|TP53_ENST00000413465.2_Missense_Mutation_p.R248Q|TP53_ENST00000455263.2_Missense_Mutation_p.R248Q|TP53_ENST00000269305.4_Missense_Mutation_p.R248Q NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 248 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain. NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (in LFS; germline mutation and in sporadic cancers; 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.R248Q(580)|p.R248L(75)|p.R248P(19)|p.R155Q(18)|p.0?(8)|p.?(5)|p.R155L(3)|p.R155P(2)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248fs*>39(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(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) GATGGGCCTCCGGTTCATGCC 0.572000 R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE) 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) 62 32 0 0 1 0 0 BNIP2 663 broad.mit.edu 37 15 59961125 59961125 + Missense_Mutation SNP T T C TCGA-DU-7309-01A-11D-2086-08 TCGA-DU-7309-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx b47b5427-1159-4b16-a9b5-814d4e7dcffa 1125ff76-1f9b-4396-a4bb-cff53b6dd447 g.chr15:59961125T>C ENST00000267859.3 - 9 1315 c.1222A>G c.(1222-1224)Atg>Gtg p.M408V BNIP2_ENST00000607373.1_Missense_Mutation_p.M287V|BNIP2_ENST00000478981.1_5'UTR|AC092755.4_ENST00000441746.1_RNA|BNIP2_ENST00000415213.2_Missense_Mutation_p.M349V Q12982 BNIP2_HUMAN BCL2/adenovirus E1B 19kDa interacting protein 2 287 anti-apoptosis|apoptosis|positive regulation of muscle cell differentiation nuclear envelope|perinuclear region of cytoplasm calcium ion binding|GTPase activator activity|protein binding NS(1)|large_intestine(2)|lung(5)|ovary(1) 9 ACGTATTCCATGGGGACAAGT 0.308000 27 47 0 0 1 0 0 DNAJC11 55735 broad.mit.edu 37 1 6697392 6697392 + Missense_Mutation SNP T T C TCGA-DU-7309-01A-11D-2086-08 TCGA-DU-7309-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx b47b5427-1159-4b16-a9b5-814d4e7dcffa 1125ff76-1f9b-4396-a4bb-cff53b6dd447 g.chr1:6697392T>C ENST00000377577.5 - 14 1513 c.1390A>G c.(1390-1392)Atc>Gtc p.I464V DNAJC11_ENST00000377573.5_Missense_Mutation_p.I374V|DNAJC11_ENST00000294401.7_Missense_Mutation_p.I412V|DNAJC11_ENST00000542246.1_Missense_Mutation_p.I426V|DNAJC11_ENST00000349363.6_Intron|DNAJC11_ENST00000465508.1_5'UTR NM_018198.3 NP_060668.2 Q9NVH1 DJC11_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 11 464 protein folding heat shock protein binding|unfolded protein binding NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)|urinary_tract(1) 32 Ovarian(185;0.0265)|all_lung(157;0.154) all_cancers(23;1.97e-27)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156) Colorectal(212;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649) GCATTGACGATGATGAGGCCT 0.572000 7 153 0 0 1 0 0 IDH2 3418 broad.mit.edu 37 15 90631837 90631837 + Missense_Mutation SNP C C A TCGA-DU-7309-01A-11D-2086-08 TCGA-DU-7309-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx b47b5427-1159-4b16-a9b5-814d4e7dcffa 1125ff76-1f9b-4396-a4bb-cff53b6dd447 g.chr15:90631837C>A ENST00000330062.3 - 4 629 c.516G>T c.(514-516)agG>agT p.R172S IDH2_ENST00000559482.1_Intron|IDH2_ENST00000539790.1_Missense_Mutation_p.R42S|IDH2_ENST00000540499.2_Missense_Mutation_p.R120S NM_002168.2 NP_002159.2 P48735 IDHP_HUMAN isocitrate dehydrogenase 2 (NADP+), mitochondrial 172 2-oxoglutarate metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle mitochondrial matrix isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding p.R172S(17)|p.R172N(1) biliary_tract(11)|bone(19)|central_nervous_system(107)|endometrium(1)|haematopoietic_and_lymphoid_tissue(953)|large_intestine(8)|lung(5)|skin(5) 1109 Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04) BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.106) CATGGGCGTGCCTGCCAATGG 0.637000 M GBM 26 43 6.32553e-13 6.67695e-13 1 1 0 AR 367 broad.mit.edu 37 X 66765383 66765383 + Missense_Mutation SNP T T C TCGA-DU-7309-01A-11D-2086-08 TCGA-DU-7309-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx b47b5427-1159-4b16-a9b5-814d4e7dcffa 1125ff76-1f9b-4396-a4bb-cff53b6dd447 g.chrX:66765383T>C ENST00000374690.3 + 1 919 c.395T>C c.(394-396)gTc>gCc p.V132A AR_ENST00000513847.1_3'UTR|AR_ENST00000504326.1_Missense_Mutation_p.V132A|AR_ENST00000396044.3_Missense_Mutation_p.V132A NM_000044.3 NP_000035.2 P10275 ANDR_HUMAN androgen receptor 130 Modulating. cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport cytoplasm|nuclear chromatin|nucleoplasm androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3) 67 all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102) all_lung(315;1.3e-11) Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624) AGAGGTTGCGTCCCAGAGCCT 0.677000 Androgen Insensitivity Syndrome 3 2 0 0 1 0 0 TRIOBP 11078 broad.mit.edu 37 22 38120282 38120282 + Silent SNP C C T TCGA-DU-7309-01A-11D-2086-08 TCGA-DU-7309-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx b47b5427-1159-4b16-a9b5-814d4e7dcffa 1125ff76-1f9b-4396-a4bb-cff53b6dd447 g.chr22:38120282C>T ENST00000406386.3 + 7 1974 c.1719C>T c.(1717-1719)gaC>gaT p.D573D RP1-37E16.12_ENST00000455236.1_RNA NM_001039141.2 NP_001034230.1 Q9H2D6 TARA_HUMAN TRIO and F-actin binding protein 573 actin modification|barbed-end actin filament capping actin cytoskeleton|cytoplasm|nucleus actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 12 Melanoma(58;0.0574) CCACACGAGACAACCCCAGAA 0.587000 7 154 0 0 1 0 0 TUBBP5 0 broad.mit.edu 37 9 141070695 141070695 + RNA SNP G G A TCGA-DU-7309-01A-11D-2086-08 TCGA-DU-7309-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx b47b5427-1159-4b16-a9b5-814d4e7dcffa 1125ff76-1f9b-4396-a4bb-cff53b6dd447 g.chr9:141070695G>A ENST00000503395.1 + 0 1470 p.R105H(1) GCCAAGGGACGCTACACCGAA 0.592000 5 9 0 0 1 0 0 ZNF845 91664 broad.mit.edu 37 19 53856730 53856730 + Silent SNP G G A TCGA-DU-7309-01A-11D-2086-08 TCGA-DU-7309-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx b47b5427-1159-4b16-a9b5-814d4e7dcffa 1125ff76-1f9b-4396-a4bb-cff53b6dd447 g.chr19:53856730G>A ENST00000458035.1 + 4 2919 c.2802G>A c.(2800-2802)aaG>aaA p.K934K ZNF845_ENST00000595091.1_Silent_p.K934K NM_138374.1 NP_612383.1 Q96IR2 ZN845_HUMAN zinc finger protein 845 934 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.K934K(3) endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2) 26 TAATTCATAAGACAATTCATA 0.368000 3 28 0 0 1 0 0 ABLIM1 3983 broad.mit.edu 37 10 116207683 116207683 + Missense_Mutation SNP A A G TCGA-DU-7309-01A-11D-2086-08 TCGA-DU-7309-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx b47b5427-1159-4b16-a9b5-814d4e7dcffa 1125ff76-1f9b-4396-a4bb-cff53b6dd447 g.chr10:116207683A>G ENST00000369252.4 - 15 1812 c.1511T>C c.(1510-1512)aTt>aCt p.I504T ABLIM1_ENST00000392952.3_Missense_Mutation_p.I241T|ABLIM1_ENST00000277895.5_Missense_Mutation_p.I564T|ABLIM1_ENST00000369266.3_Missense_Mutation_p.I241T|ABLIM1_ENST00000533213.2_Missense_Mutation_p.I504T|ABLIM1_ENST00000369253.2_Missense_Mutation_p.I187T NM_001003407.1|NM_001003408.1 NP_001003407.1|NP_001003408.1 O14639 ABLM1_HUMAN actin binding LIM protein 1 564 axon guidance|cytoskeleton organization|organ morphogenesis|visual perception actin cytoskeleton|cytoplasm actin binding|zinc ion binding breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 30 Colorectal(252;0.0373)|Breast(234;0.231) Epithelial(162;0.0132)|all cancers(201;0.0383) GTCCGTCTCAATCTTTGGTGT 0.547000 4 87 0 0 1 0 0 ZNF318 24149 broad.mit.edu 37 6 43310590 43310590 + Missense_Mutation SNP G G A rs147313268 byFrequency TCGA-DU-7309-01A-11D-2086-08 TCGA-DU-7309-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx b47b5427-1159-4b16-a9b5-814d4e7dcffa 1125ff76-1f9b-4396-a4bb-cff53b6dd447 g.chr6:43310590G>A ENST00000361428.2 - 7 3177 c.3100C>T c.(3100-3102)Cgt>Tgt p.R1034C ZNF318_ENST00000318149.3_Missense_Mutation_p.R1034C NM_014345.2 NP_055160.2 Q5VUA4 ZN318_HUMAN zinc finger protein 318 1034 RT -> CI (in Ref. 1; AAD47387/AAD17298). meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus nucleic acid binding|zinc ion binding autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 61 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579) CTCTTAGTACGAAACTTCTCA 0.433000 6 28 0 0 1 0 0 CXCR2 3579 broad.mit.edu 37 2 218999633 218999633 + Missense_Mutation SNP G G A rs75759064 by1000genomes TCGA-DU-7309-01A-11D-2086-08 TCGA-DU-7309-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx b47b5427-1159-4b16-a9b5-814d4e7dcffa 1125ff76-1f9b-4396-a4bb-cff53b6dd447 g.chr2:218999633G>A ENST00000318507.2 + 3 536 c.109G>A c.(109-111)Gcc>Acc p.A37T NM_001557.3 NP_001548.1 P25025 CXCR2_HUMAN chemokine (C-X-C motif) receptor 2 37 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular defense response|dendritic cell chemotaxis|inflammatory response|neutrophil activation|neutrophil chemotaxis|positive regulation of cell proliferation cell surface|integral to plasma membrane|mast cell granule interleukin-8 receptor activity breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(11)|skin(1)|stomach(1) 22 ACTAGATGCCGCCCCATGTGA 0.448000 53 116 0 0 1 0 0 TEX11 0 broad.mit.edu 37 X 70073157 70073157 + Nonsense_Mutation SNP C C A TCGA-DU-7309-01A-11D-2086-08 TCGA-DU-7309-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx b47b5427-1159-4b16-a9b5-814d4e7dcffa 1125ff76-1f9b-4396-a4bb-cff53b6dd447 g.chrX:70073157C>A ENST00000395889.2 - 7 546 c.391G>T c.(391-393)Gaa>Taa p.E131* TEX11_ENST00000374333.2_Nonsense_Mutation_p.E116*|TEX11_ENST00000344304.3_Nonsense_Mutation_p.E131* NM_001003811.1 NP_001003811.1 Q8IYF3 TEX11_HUMAN testis expressed 11 131 protein binding breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(13)|ovary(3)|prostate(3)|skin(3) 48 Renal(35;0.156) TCCAACCATTCTTTTCCTATT 0.343000 16 37 3.32936e-07 3.46618e-07 1 1 0 NDST2 8509 broad.mit.edu 37 10 75565368 75565368 + Missense_Mutation SNP G G C TCGA-DU-7309-01A-11D-2086-08 TCGA-DU-7309-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx b47b5427-1159-4b16-a9b5-814d4e7dcffa 1125ff76-1f9b-4396-a4bb-cff53b6dd447 g.chr10:75565368G>C ENST00000299641.4 - 9 2324 c.1354C>G c.(1354-1356)Cag>Gag p.Q452E NDST2_ENST00000309979.6_Missense_Mutation_p.Q575E NM_003635.3 NP_003626.1 P52849 NDST2_HUMAN N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 2 575 Heparan sulfate N-deacetylase 2. Golgi membrane|integral to membrane [heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity p.Q575E(1) cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1) 30 Prostate(51;0.0112) CTTCGCTCCTGAGGGAAAAGT 0.512000 3 41 0 0 1 0 0 LINGO4 339398 broad.mit.edu 37 1 151773603 151773603 + Frame_Shift_Del DEL A A - TCGA-DU-7309-01A-11D-2086-08 TCGA-DU-7309-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx b47b5427-1159-4b16-a9b5-814d4e7dcffa 1125ff76-1f9b-4396-a4bb-cff53b6dd447 g.chr1:151773603delA ENST00000368820.3 - 2 2515 c.1578delT c.(1576-1578)ttfs p.F526fs NM_001004432.2 NP_001004432.1 Q6UY18 LIGO4_HUMAN leucine rich repeat and Ig domain containing 4 526 integral to membrane breast(2)|cervix(1)|endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 21 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14) LUSC - Lung squamous cell carcinoma(543;0.181) TGCTATCCAGAAAAAAAGGCC 0.582 7 218 --- --- --- --- CTC-467M3.1 0 broad.mit.edu 37 5 87980814 87980816 + RNA DEL GAG GAG - TCGA-DU-7309-01A-11D-2086-08 TCGA-DU-7309-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx b47b5427-1159-4b16-a9b5-814d4e7dcffa 1125ff76-1f9b-4396-a4bb-cff53b6dd447 g.chr5:87980814_87980816delGAG ENST00000510274.1 + 0 46 ggaggaggaagaggaggaggagg 0.581 4 9 --- --- --- --- ZACN 353174 broad.mit.edu 37 17 74076491 74076492 + Frame_Shift_Del DEL CT CT - TCGA-DU-7309-01A-11D-2086-08 TCGA-DU-7309-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx b47b5427-1159-4b16-a9b5-814d4e7dcffa 1125ff76-1f9b-4396-a4bb-cff53b6dd447 g.chr17:74076491_74076492delCT ENST00000334586.5 + 5 613_614 c.530_531delCT c.(529-531)gfs p.A177fs ZACN_ENST00000392503.2_Intron NM_180990.3 NP_851321.2 Q401N2 ZACN_HUMAN zinc activated ligand-gated ion channel 177 response to zinc ion integral to membrane|membrane fraction|plasma membrane|postsynaptic membrane extracellular ligand-gated ion channel activity|receptor activity breast(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 11 AGCTTCTACGCTCTCAGCAACA 0.644 60 94 --- --- --- --- SRPK3 26576 broad.mit.edu 37 X 153046565 153046566 + Frame_Shift_Ins INS - - A TCGA-DU-7309-01A-11D-2086-08 TCGA-DU-7309-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx b47b5427-1159-4b16-a9b5-814d4e7dcffa 1125ff76-1f9b-4396-a4bb-cff53b6dd447 g.chrX:153046565_153046566insA ENST00000370101.3 + 1 70_71 c.24_25insA c.(22-27)gggggafs p.GG8fs SRPK3_ENST00000393786.3_Frame_Shift_Ins_p.GG8fs|SRPK3_ENST00000489426.1_Intron|SRPK3_ENST00000370108.3_Frame_Shift_Ins_p.GG8fs|SRPK3_ENST00000370104.1_Frame_Shift_Ins_p.GG8fs NM_001170760.1|NM_014370.3 NP_001164231.1|NP_055185.2 Q9UPE1 SRPK3_HUMAN SRSF protein kinase 3 8 cell differentiation|muscle organ development|muscle tissue development ATP binding|protein serine/threonine kinase activity breast(1)|central_nervous_system(1)|endometrium(2)|lung(4)|ovary(2)|pancreas(2)|urinary_tract(1) 13 all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05) CGggcggtggtggggacagcgg 0.748 2 4 --- --- --- ---