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 OBSCN 84033 broad.mit.edu 37 1 228465550 228465550 + Nonsense_Mutation SNP C C T TCGA-P5-A72W-01A-11D-A32B-08 TCGA-P5-A72W-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 05432584-7c2a-4d75-8d0d-ead071120a4e 971c526c-a94b-4e27-a8c8-f009ef80fba4 g.chr1:228465550C>T ENST00000570156.2 + 30 8211 c.8137C>T c.(8137-8139)Cga>Tga p.R2713* OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000359599.6_Nonsense_Mutation_p.R1131*|OBSCN_ENST00000422127.1_Nonsense_Mutation_p.R2284*|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000284548.11_Nonsense_Mutation_p.R2284* NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 1710 Ig-like 26. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) AGCCCAGCTCCGAGTGAAGGG 0.632000 20 19 0 0 1 0 0 KCNJ3 3760 broad.mit.edu 37 2 155555776 155555776 + Silent SNP C C G TCGA-P5-A72W-01A-11D-A32B-08 TCGA-P5-A72W-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 05432584-7c2a-4d75-8d0d-ead071120a4e 971c526c-a94b-4e27-a8c8-f009ef80fba4 g.chr2:155555776C>G ENST00000295101.2 + 1 966 c.489C>G c.(487-489)ctC>ctG p.L163L KCNJ3_ENST00000544049.1_Silent_p.L163L NM_001260509.1|NM_002239.3 NP_001247438.1|NP_002230.1 P48549 IRK3_HUMAN potassium inwardly-rectifying channel, subfamily J, member 3 163 synaptic transmission voltage-gated potassium channel complex G-protein activated inward rectifier potassium channel activity|protein binding p.L163L(1) breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 54 Halothane(DB01159) TCCTCTTCCTCTTCCAGTCCA 0.572000 22 24 0 0 1 0 0 PLEC 5339 broad.mit.edu 37 8 144995605 144995605 + Missense_Mutation SNP C C T TCGA-P5-A72W-01A-11D-A32B-08 TCGA-P5-A72W-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 05432584-7c2a-4d75-8d0d-ead071120a4e 971c526c-a94b-4e27-a8c8-f009ef80fba4 g.chr8:144995605C>T ENST00000322810.4 - 32 8964 c.8795G>A c.(8794-8796)gGc>gAc p.G2932D PLEC_ENST00000354589.3_Missense_Mutation_p.G2795D|PLEC_ENST00000357649.2_Missense_Mutation_p.G2799D|PLEC_ENST00000436759.2_Missense_Mutation_p.G2822D|PLEC_ENST00000356346.3_Missense_Mutation_p.G2781D|PLEC_ENST00000345136.3_Missense_Mutation_p.G2795D|PLEC_ENST00000398774.2_Missense_Mutation_p.G2763D|PLEC_ENST00000527096.1_Missense_Mutation_p.G2818D|PLEC_ENST00000354958.2_Missense_Mutation_p.G2773D NM_201380.2 NP_958782.1 Q15149 PLEC_HUMAN plectin 2932 Globular 2. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10) 137 GACGATGAGGCCCTTCTGCAT 0.672000 4 78 0 0 1 0 0 OSBPL10 114884 broad.mit.edu 37 3 31774775 31774775 + Missense_Mutation SNP C C G TCGA-P5-A72W-01A-11D-A32B-08 TCGA-P5-A72W-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 05432584-7c2a-4d75-8d0d-ead071120a4e 971c526c-a94b-4e27-a8c8-f009ef80fba4 g.chr3:31774775C>G ENST00000396556.2 - 6 1191 c.1069G>C c.(1069-1071)Gaa>Caa p.E357Q OSBPL10_ENST00000438237.2_Missense_Mutation_p.E293Q|OSBPL10_ENST00000467647.1_5'UTR NM_017784.4 NP_060254.2 Q9BXB5 OSB10_HUMAN oxysterol binding protein-like 10 357 lipid transport lipid binding breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 34 STAD - Stomach adenocarcinoma(1;0.00406) GAGGTTTGTTCGTCTTCAGCA 0.453000 18 60 0 0 1 0 0 OR4P4 81300 broad.mit.edu 37 11 55406056 55406056 + Missense_Mutation SNP G G T TCGA-P5-A72W-01A-11D-A32B-08 TCGA-P5-A72W-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 05432584-7c2a-4d75-8d0d-ead071120a4e 971c526c-a94b-4e27-a8c8-f009ef80fba4 g.chr11:55406056G>T ENST00000314612.2 + 1 223 c.223G>T c.(223-225)Gtg>Ttg p.V75L NM_001004124.1 NP_001004124.1 Q8NGL7 OR4P4_HUMAN olfactory receptor, family 4, subfamily P, member 4 75 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1) 40 CACATCCACAGTGACCCCCAA 0.408000 52 71 6.3008e-33 6.68657e-33 1 1 0 GLB1L 79411 broad.mit.edu 37 2 220101997 220101997 + Missense_Mutation SNP C C T rs144432913 TCGA-P5-A72W-01A-11D-A32B-08 TCGA-P5-A72W-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 05432584-7c2a-4d75-8d0d-ead071120a4e 971c526c-a94b-4e27-a8c8-f009ef80fba4 g.chr2:220101997C>T ENST00000295759.7 - 17 2075 c.1762G>A c.(1762-1764)Gtg>Atg p.V588M GLB1L_ENST00000497855.1_5'UTR|GLB1L_ENST00000409640.1_Missense_Mutation_p.V498M|GLB1L_ENST00000356283.3_Missense_Mutation_p.V498M|GLB1L_ENST00000392089.2_Missense_Mutation_p.V588M Q6UWU2 GLB1L_HUMAN galactosidase, beta 1-like 588 carbohydrate metabolic process extracellular region cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 22 all_lung(227;1.19e-05)|Lung NSC(271;2.76e-05)|Medulloblastoma(418;0.0208)|Esophageal squamous(248;0.0559) Epithelial(149;1.3e-11)|all cancers(144;2.07e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) AATCTTGGCACGTAGAGGGTC 0.512000 5 35 0 0 1 0 0 ATRX 546 broad.mit.edu 37 X 76890125 76890125 + Missense_Mutation SNP C C T TCGA-P5-A72W-01A-11D-A32B-08 TCGA-P5-A72W-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 05432584-7c2a-4d75-8d0d-ead071120a4e 971c526c-a94b-4e27-a8c8-f009ef80fba4 g.chrX:76890125C>T ENST00000373344.5 - 17 4983 c.4769G>A c.(4768-4770)tGc>tAc p.C1590Y ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.C1552Y NM_000489.3 NP_000480.2 P46100 ATRX_HUMAN alpha thalassemia/mental retardation syndrome X-linked 1590 Helicase ATP-binding. 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) GGCAAGAATGCATCCTGAACC 0.358000 """Mis, F, N""" """Pancreatic neuroendocrine tumors, paediatric GBM""" ATR-X (alpha thalassemia/mental retardation) syndrome 42 3 0 0 1 0 0 CDH23 64072 broad.mit.edu 37 10 73450310 73450310 + Silent SNP C C T TCGA-P5-A72W-01A-11D-A32B-08 TCGA-P5-A72W-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 05432584-7c2a-4d75-8d0d-ead071120a4e 971c526c-a94b-4e27-a8c8-f009ef80fba4 g.chr10:73450310C>T ENST00000224721.6 + 19 2165 c.2160C>T c.(2158-2160)ggC>ggT p.G720G CDH23_ENST00000299366.7_Silent_p.G760G NM_022124.5 NP_071407.4 Q9H251 CAD23_HUMAN cadherin-related 23 715 Cadherin 7. calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound cytosol|integral to membrane|plasma membrane|stereocilium calcium ion binding|protein binding NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3) 133 CCTTGGAAGGCTCCACCCAGT 0.622000 2 1 0 0 1 0 0 KLHL38 340359 broad.mit.edu 37 8 124664297 124664297 + Silent SNP G G A TCGA-P5-A72W-01A-11D-A32B-08 TCGA-P5-A72W-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 05432584-7c2a-4d75-8d0d-ead071120a4e 971c526c-a94b-4e27-a8c8-f009ef80fba4 g.chr8:124664297G>A ENST00000325995.7 - 1 893 c.870C>T c.(868-870)ggC>ggT p.G290G CTD-2552K11.2_ENST00000524355.1_RNA NM_001081675.2 NP_001075144.2 Q2WGJ6 KLH38_HUMAN kelch-like family member 38 290 breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(16)|pancreas(1)|prostate(3)|stomach(1) 38 CCTTCCTTCCGCCCAAGAGGA 0.547000 75 41 0 0 1 0 0 OGFOD3 79701 broad.mit.edu 37 17 80361821 80361821 + Missense_Mutation SNP C C T TCGA-P5-A72W-01A-11D-A32B-08 TCGA-P5-A72W-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 05432584-7c2a-4d75-8d0d-ead071120a4e 971c526c-a94b-4e27-a8c8-f009ef80fba4 g.chr17:80361821C>T ENST00000313056.5 - 7 842 c.691G>A c.(691-693)Gtg>Atg p.V231M OGFOD3_ENST00000329197.5_Missense_Mutation_p.V231M NM_024648.2|NM_175902.4 NP_078924.1|NP_787098.3 2-oxoglutarate and iron-dependent oxygenase domain containing 3 ACCTTGTCCACGTGCGCATGC 0.672000 3 6 0 0 1 0 0 SLC43A3 29015 broad.mit.edu 37 11 57193592 57193592 + Silent SNP C C T TCGA-P5-A72W-01A-11D-A32B-08 TCGA-P5-A72W-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 05432584-7c2a-4d75-8d0d-ead071120a4e 971c526c-a94b-4e27-a8c8-f009ef80fba4 g.chr11:57193592C>T ENST00000395123.2 - 3 358 c.54G>A c.(52-54)ctG>ctA p.L18L SLC43A3_ENST00000533524.1_Silent_p.L18L|SLC43A3_ENST00000395124.1_Silent_p.L18L|SLC43A3_ENST00000352187.1_Silent_p.L18L|SLC43A3_ENST00000529554.1_Silent_p.L18L|SLC43A3_ENST00000528098.1_5'UTR NM_001278201.1|NM_014096.2 NP_001265130.1|NP_054815.2 Q8NBI5 S43A3_HUMAN solute carrier family 43, member 3 18 transmembrane transport integral to membrane central_nervous_system(1)|endometrium(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 27 CCAGGCATTCCAGCAGCCCAG 0.552000 12 88 0 0 1 0 0 PHGDH 26227 broad.mit.edu 37 1 120263899 120263899 + Missense_Mutation SNP A A G TCGA-P5-A72W-01A-11D-A32B-08 TCGA-P5-A72W-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 05432584-7c2a-4d75-8d0d-ead071120a4e 971c526c-a94b-4e27-a8c8-f009ef80fba4 g.chr1:120263899A>G ENST00000369407.3 + 1 1650 c.143A>G c.(142-144)aAt>aGt p.N48S PHGDH_ENST00000369409.4_Missense_Mutation_p.N82S O43175 SERA_HUMAN phosphoglycerate dehydrogenase 82 brain development|L-serine biosynthetic process electron carrier activity|NAD binding|phosphoglycerate dehydrogenase activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(2) 18 all_cancers(5;1.18e-09)|all_epithelial(5;2.16e-10)|Melanoma(3;1.93e-05)|all_neural(166;0.219) all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0347) Lung(183;0.0111)|LUSC - Lung squamous cell carcinoma(189;0.0593) NADH(DB00157) GGTGTGGACAATGTGGATCTG 0.582000 16 69 0 0 1 0 0 ENTPD1 953 broad.mit.edu 37 10 97605280 97605280 + Missense_Mutation SNP A A G TCGA-P5-A72W-01A-11D-A32B-08 TCGA-P5-A72W-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 05432584-7c2a-4d75-8d0d-ead071120a4e 971c526c-a94b-4e27-a8c8-f009ef80fba4 g.chr10:97605280A>G ENST00000371203.5 + 5 913 c.326A>G c.(325-327)aAt>aGt p.N109S ENTPD1_ENST00000453258.2_Missense_Mutation_p.N254S|ENTPD1_ENST00000371205.4_Missense_Mutation_p.N247S|RP11-429G19.3_ENST00000433113.1_RNA|ENTPD1_ENST00000371207.3_Missense_Mutation_p.N259S|ENTPD1_ENST00000543964.1_Missense_Mutation_p.N139S|ENTPD1-AS1_ENST00000416301.1_RNA|ENTPD1_ENST00000539125.1_Missense_Mutation_p.N109S NM_001164179.1|NM_001164182.1|NM_001776.5 NP_001157651.1|NP_001157654.1|NP_001767.3 P49961 ENTP1_HUMAN ectonucleoside triphosphate diphosphohydrolase 1 247 cell adhesion integral to plasma membrane ATP binding cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|skin(1) 16 Colorectal(252;0.0821) Epithelial(162;1.31e-07)|all cancers(201;5.33e-06) AAGGACTACAATGTCTACACA 0.488000 39 44 0 0 1 0 0 RAD50 10111 broad.mit.edu 37 5 131972886 131972886 + Missense_Mutation SNP G G A TCGA-P5-A72W-01A-11D-A32B-08 TCGA-P5-A72W-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 05432584-7c2a-4d75-8d0d-ead071120a4e 971c526c-a94b-4e27-a8c8-f009ef80fba4 g.chr5:131972886G>A ENST00000378823.3 + 22 3870 c.3052G>A c.(3052-3054)Gga>Aga p.G1018R AC004041.2_ENST00000457489.1_RNA|RAD50_ENST00000265335.6_Missense_Mutation_p.G1157R NM_005732.3 NP_005723.2 Q92878 RAD50_HUMAN RAD50 homolog (S. cerevisiae) 1157 DNA duplex unwinding|double-strand break repair via homologous recombination|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|telomere maintenance via telomerase Mre11 complex|nuclear chromosome, telomeric region|nucleoplasm ATP binding|DNA binding|nuclease activity|protein binding, bridging|zinc ion binding breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 36 all_cancers(142;0.0368)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) TACCTATCGTGGACAAGGTGA 0.433000 Homologous recombination 75 112 0 0 1 0 0 ARHGAP18 93663 broad.mit.edu 37 6 129929056 129929056 + Missense_Mutation SNP C C G TCGA-P5-A72W-01A-11D-A32B-08 TCGA-P5-A72W-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 05432584-7c2a-4d75-8d0d-ead071120a4e 971c526c-a94b-4e27-a8c8-f009ef80fba4 g.chr6:129929056C>G ENST00000368149.2 - 9 1352 c.1264G>C c.(1264-1266)Gcc>Ccc p.A422P NM_033515.2 NP_277050.2 Q8N392 RHG18_HUMAN Rho GTPase activating protein 18 422 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|protein binding NS(2)|endometrium(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(3) 18 OV - Ovarian serous cystadenocarcinoma(136;0.0621)|GBM - Glioblastoma multiforme(226;0.0638)|all cancers(137;0.074) GCCTGAAAGGCTTTGAGATAC 0.468000 24 17 0 0 1 0 0 LRP1 4035 broad.mit.edu 37 12 57586737 57586737 + Missense_Mutation SNP T T A TCGA-P5-A72W-01A-11D-A32B-08 TCGA-P5-A72W-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 05432584-7c2a-4d75-8d0d-ead071120a4e 971c526c-a94b-4e27-a8c8-f009ef80fba4 g.chr12:57586737T>A ENST00000243077.3 + 45 8005 c.7539T>A c.(7537-7539)gaT>gaA p.D2513E NM_002332.2 NP_002323.2 Q07954 LRP1_HUMAN low density lipoprotein receptor-related protein 1 2513 EGF-like 10. aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity coated pit|integral to plasma membrane|nucleus apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 184 BRCA - Breast invasive adenocarcinoma(357;0.0103) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031) TCCTCCAGGATGACCTCACCT 0.642000 14 34 0 0 1 0 0 COL7A1 1294 broad.mit.edu 37 3 48618703 48618703 + Missense_Mutation SNP C C T TCGA-P5-A72W-01A-11D-A32B-08 TCGA-P5-A72W-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 05432584-7c2a-4d75-8d0d-ead071120a4e 971c526c-a94b-4e27-a8c8-f009ef80fba4 g.chr3:48618703C>T ENST00000328333.8 - 51 4996 c.4889G>A c.(4888-4890)cGa>cAa p.R1630Q COL7A1_ENST00000454817.1_Missense_Mutation_p.R1630Q NM_000094.3 NP_000085.1 Q02388 CO7A1_HUMAN collagen, type VII, alpha 1 1630 Triple-helical region. cell adhesion|epidermis development basement membrane|collagen type VII protein binding|serine-type endopeptidase inhibitor activity NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5) 137 BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) ATCTCGTCCTCGGGGGCCAAC 0.642000 3 21 0 0 1 0 0 FAT1 2195 broad.mit.edu 37 4 187530420 187530420 + Missense_Mutation SNP T T G TCGA-P5-A72W-01A-11D-A32B-08 TCGA-P5-A72W-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 05432584-7c2a-4d75-8d0d-ead071120a4e 971c526c-a94b-4e27-a8c8-f009ef80fba4 g.chr4:187530420T>G ENST00000441802.2 - 16 10332 c.10123A>C c.(10123-10125)Ata>Cta p.I3375L NM_005245.3 NP_005236.2 Q14517 FAT1_HUMAN FAT atypical cadherin 1 3375 Cadherin 31. actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4) 228 TTGCCATCTATAATTGAGTAG 0.488000 HNSCC(5;0.00058) 11 13 0 0 1 0 0 FANCD2 2177 broad.mit.edu 37 3 10136015 10136015 + Missense_Mutation SNP C C T TCGA-P5-A72W-01A-11D-A32B-08 TCGA-P5-A72W-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 05432584-7c2a-4d75-8d0d-ead071120a4e 971c526c-a94b-4e27-a8c8-f009ef80fba4 g.chr3:10136015C>T ENST00000287647.3 + 40 4024 c.3931C>T c.(3931-3933)Ccg>Tcg p.P1311S FANCD2_ENST00000383806.1_3'UTR|FANCD2OS_ENST00000436517.1_Intron|FANCD2_ENST00000383807.1_Missense_Mutation_p.P1311S|FANCD2_ENST00000419585.1_Missense_Mutation_p.P1311S|FANCD2OS_ENST00000524279.1_Intron NM_033084.3 NP_149075.2 Q9BXW9 FACD2_HUMAN Fanconi anemia, complementation group D2 1311 DNA repair|response to gamma radiation nucleoplasm protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 51 OV - Ovarian serous cystadenocarcinoma(96;0.148) GCAATGTATGCCGCTCCTAGA 0.458000 """D, Mis, N, F""" """AML, leukemia""" Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 4 250 0 0 1 0 0 DEPDC5 9681 broad.mit.edu 37 22 32266690 32266690 + Missense_Mutation SNP G G A TCGA-P5-A72W-01A-11D-A32B-08 TCGA-P5-A72W-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 05432584-7c2a-4d75-8d0d-ead071120a4e 971c526c-a94b-4e27-a8c8-f009ef80fba4 g.chr22:32266690G>A ENST00000400246.1 + 34 3587 c.3445G>A c.(3445-3447)Gga>Aga p.G1149R DEPDC5_ENST00000266091.3_Missense_Mutation_p.G1127R|DEPDC5_ENST00000539165.1_5'UTR|DEPDC5_ENST00000535622.1_Missense_Mutation_p.G1049R|DEPDC5_ENST00000400248.1_Missense_Mutation_p.G1118R|DEPDC5_ENST00000400249.2_Missense_Mutation_p.G1118R|DEPDC5_ENST00000494060.1_3'UTR|DEPDC5_ENST00000382105.2_Missense_Mutation_p.G1071R|DEPDC5_ENST00000382111.2_Missense_Mutation_p.G1149R|DEPDC5_ENST00000382112.3_Missense_Mutation_p.G1140R O75140 DEPD5_HUMAN DEP domain containing 5 1118 intracellular signal transduction breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 63 CCAGAACATAGGAGAACAGGG 0.532000 10 28 0 0 1 0 0 IGHV3-21 0 broad.mit.edu 37 14 106691787 106691787 + RNA SNP G G A TCGA-P5-A72W-01A-11D-A32B-08 TCGA-P5-A72W-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 05432584-7c2a-4d75-8d0d-ead071120a4e 971c526c-a94b-4e27-a8c8-f009ef80fba4 g.chr14:106691787G>A ENST00000390607.2 - 0 315 CTGAGTCTGCGTAGTATATGT 0.517000 53 55 0 0 1 0 0 TRAV7 0 broad.mit.edu 37 14 22251215 22251215 + RNA SNP G G A TCGA-P5-A72W-01A-11D-A32B-08 TCGA-P5-A72W-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 05432584-7c2a-4d75-8d0d-ead071120a4e 971c526c-a94b-4e27-a8c8-f009ef80fba4 g.chr14:22251215G>A ENST00000390429.3 + 0 6 TCAGGATGGAGAAGATGCGGA 0.358000 8 15 0 0 1 0 0 RAMP3 10268 broad.mit.edu 37 7 45222877 45222877 + Missense_Mutation SNP A A G TCGA-P5-A72W-01A-11D-A32B-08 TCGA-P5-A72W-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 05432584-7c2a-4d75-8d0d-ead071120a4e 971c526c-a94b-4e27-a8c8-f009ef80fba4 g.chr7:45222877A>G ENST00000242249.4 + 3 351 c.313A>G c.(313-315)Acc>Gcc p.T105A RAMP3_ENST00000481345.1_Missense_Mutation_p.T105A|RAMP3_ENST00000496212.1_Missense_Mutation_p.T105A NM_005856.2 NP_005847.1 O60896 RAMP3_HUMAN receptor (G protein-coupled) activity modifying protein 3 105 intracellular protein transport|receptor-mediated endocytosis|regulation of G-protein coupled receptor protein signaling pathway integral to plasma membrane|lysosome protein transporter activity breast(1)|endometrium(1)|large_intestine(4)|lung(4)|stomach(1) 11 Pramlintide(DB01278) CTCCAACTGCACCGTGGACAG 0.622000 39 50 0 0 1 0 0 CLEC4D 338339 broad.mit.edu 37 12 8673742 8673742 + Missense_Mutation SNP G G A TCGA-P5-A72W-01A-11D-A32B-08 TCGA-P5-A72W-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 05432584-7c2a-4d75-8d0d-ead071120a4e 971c526c-a94b-4e27-a8c8-f009ef80fba4 g.chr12:8673742G>A ENST00000299665.2 + 6 716 c.523G>A c.(523-525)Gac>Aac p.D175N NM_080387.4 NP_525126.2 Q8WXI8 CLC4D_HUMAN C-type lectin domain family 4, member D 175 C-type lectin. innate immune response integral to membrane sugar binding large_intestine(4)|lung(6)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 14 Lung SC(5;0.184) GAATGAACCCGACAACTCTCA 0.338000 19 22 0 0 1 0 0 RNF26 79102 broad.mit.edu 37 11 119206053 119206053 + Missense_Mutation SNP G G T TCGA-P5-A72W-01A-11D-A32B-08 TCGA-P5-A72W-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 05432584-7c2a-4d75-8d0d-ead071120a4e 971c526c-a94b-4e27-a8c8-f009ef80fba4 g.chr11:119206053G>T ENST00000311413.4 + 1 817 c.221G>T c.(220-222)cGg>cTg p.R74L NM_032015.4 NP_114404.1 Q9BY78 RNF26_HUMAN ring finger protein 26 74 Leu-rich. zinc ion binding cervix(1)|endometrium(1)|kidney(1)|lung(7)|ovary(1)|prostate(1) 12 Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;3.8e-05) GCCGTGGTCCGGTTCACATGT 0.587000 41 110 7.63091e-17 7.93615e-17 1 1 0 ANLN 54443 broad.mit.edu 37 7 36462334 36462334 + Missense_Mutation SNP A A G TCGA-P5-A72W-01A-11D-A32B-08 TCGA-P5-A72W-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 05432584-7c2a-4d75-8d0d-ead071120a4e 971c526c-a94b-4e27-a8c8-f009ef80fba4 g.chr7:36462334A>G ENST00000265748.2 + 14 2613 c.2392A>G c.(2392-2394)Atg>Gtg p.M798V ANLN_ENST00000396068.2_Missense_Mutation_p.M761V NM_018685.2 NP_061155.2 Q9NQW6 ANLN_HUMAN anillin, actin binding protein 798 Localization to the cleavage furrow. cytokinesis|mitosis|regulation of exit from mitosis|septin ring assembly actomyosin contractile ring|nucleus actin binding breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2) 45 AAGTGAATTTATGCCATCCAA 0.398000 36 49 0 0 1 0 0 IDH1 3417 broad.mit.edu 37 2 209113112 209113112 + Missense_Mutation SNP C C T rs121913500 TCGA-P5-A72W-01A-11D-A32B-08 TCGA-P5-A72W-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 05432584-7c2a-4d75-8d0d-ead071120a4e 971c526c-a94b-4e27-a8c8-f009ef80fba4 g.chr2:209113112C>T ENST00000415913.1 - 4 776 c.395G>A c.(394-396)cGt>cAt p.R132H IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H O75874 IDHC_HUMAN isocitrate dehydrogenase 1 (NADP+), soluble 132 R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). 2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle cytosol|peroxisomal matrix isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1) NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1) 4887 Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136) ATAAGCATGACGACCTATGAT 0.393000 Mis gliobastoma 17 15 0 0 1 0 0 MUC5B 727897 broad.mit.edu 37 11 1272726 1272726 + Silent SNP A A T TCGA-P5-A72W-01A-11D-A32B-08 TCGA-P5-A72W-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 05432584-7c2a-4d75-8d0d-ead071120a4e 971c526c-a94b-4e27-a8c8-f009ef80fba4 g.chr11:1272726A>T ENST00000447027.1 + 31 14683 c.14625A>T c.(14623-14625)ggA>ggT p.G4875G MUC5B_ENST00000529681.1_Silent_p.G4872G Q9HC84 MUC5B_HUMAN mucin 5B, oligomeric mucus/gel-forming 4872 23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich. cell adhesion extracellular region extracellular matrix structural constituent|protein binding cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1) 137 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) CCACTCTGGGAACAGCTCACA 0.662000 25 26 0 0 1 0 0 NCOA6 23054 broad.mit.edu 37 20 33345744 33345744 + Silent SNP C C T TCGA-P5-A72W-01A-11D-A32B-08 TCGA-P5-A72W-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 05432584-7c2a-4d75-8d0d-ead071120a4e 971c526c-a94b-4e27-a8c8-f009ef80fba4 g.chr20:33345744C>T ENST00000374796.2 - 8 3377 c.807G>A c.(805-807)caG>caA p.Q269Q NCOA6_ENST00000359003.2_Silent_p.Q269Q Q14686 NCOA6_HUMAN nuclear receptor coactivator 6 269 CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region. brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter transcription factor complex chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding p.Q269Q(15) NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1) 107 gctgctgctgctgttgttgtt 0.537000 3 29 0 0 1 0 0 ATP10A 57194 broad.mit.edu 37 15 25932867 25932867 + Missense_Mutation SNP A A G TCGA-P5-A72W-01A-11D-A32B-08 TCGA-P5-A72W-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 05432584-7c2a-4d75-8d0d-ead071120a4e 971c526c-a94b-4e27-a8c8-f009ef80fba4 g.chr15:25932867A>G ENST00000356865.6 - 16 3385 c.3274T>C c.(3274-3276)Ttc>Ctc p.F1092L NM_024490.3 NP_077816.1 O60312 AT10A_HUMAN ATPase, class V, type 10A 1092 ATP biosynthetic process|regulation of cell shape integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2) 103 all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125) all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244) TTGTAGAAGAAGTACAGCACC 0.498000 29 56 0 0 1 0 0 APOE 348 broad.mit.edu 37 19 45411116 45411116 + Missense_Mutation SNP T T G TCGA-P5-A72W-01A-11D-A32B-08 TCGA-P5-A72W-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 05432584-7c2a-4d75-8d0d-ead071120a4e 971c526c-a94b-4e27-a8c8-f009ef80fba4 g.chr19:45411116T>G ENST00000252486.4 + 3 254 c.143T>G c.(142-144)cTg>cGg p.L48R NM_000041.2 NP_000032.1 P02649 APOE_HUMAN apolipoprotein E 48 anti-apoptosis|Cdc42 protein signal transduction|cell death|cGMP-mediated signaling|cholesterol efflux|cholesterol homeostasis|chylomicron remnant clearance|cytoskeleton organization|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|high-density lipoprotein particle clearance|high-density lipoprotein particle remodeling|induction of apoptosis|intracellular transport|negative regulation of blood vessel endothelial cell migration|negative regulation of cholesterol biosynthetic process|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of platelet activation|nitric oxide mediated signal transduction|phospholipid efflux|positive regulation of cGMP biosynthetic process|positive regulation of cholesterol efflux|positive regulation of cholesterol esterification|positive regulation of low-density lipoprotein particle receptor catabolic process|positive regulation of membrane protein ectodomain proteolysis|positive regulation of nitric-oxide synthase activity|receptor-mediated endocytosis|regulation of axon extension|regulation of neuronal synaptic plasticity|response to reactive oxygen species|reverse cholesterol transport|synaptic transmission, cholinergic|triglyceride metabolic process|very-low-density lipoprotein particle clearance|very-low-density lipoprotein particle remodeling chylomicron|dendrite|high-density lipoprotein particle|intermediate-density lipoprotein particle|low-density lipoprotein particle|neuronal cell body|very-low-density lipoprotein particle antioxidant activity|beta-amyloid binding|heparin binding|low-density lipoprotein particle receptor binding|metal chelating activity|phosphatidylcholine-sterol O-acyltransferase activator activity|phospholipid binding|protein heterodimerization activity|protein homodimerization activity|tau protein binding|very-low-density lipoprotein particle receptor binding large_intestine(1)|lung(2)|prostate(1) 4 Lung NSC(12;0.0018)|all_lung(12;0.00481) Ovarian(192;0.0728)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.00327)|Epithelial(262;0.174) Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064) GAACTGGCACTGGGTCGCTTT 0.652000 11 16 0 0 1 0 0 LUZP2 338645 broad.mit.edu 37 11 24753686 24753686 + Missense_Mutation SNP C C G TCGA-P5-A72W-01A-11D-A32B-08 TCGA-P5-A72W-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 05432584-7c2a-4d75-8d0d-ead071120a4e 971c526c-a94b-4e27-a8c8-f009ef80fba4 g.chr11:24753686C>G ENST00000336930.6 + 3 269 c.203C>G c.(202-204)tCt>tGt p.S68C LUZP2_ENST00000531187.1_3'UTR|LUZP2_ENST00000533227.1_5'UTR Q86TE4 LUZP2_HUMAN leucine zipper protein 2 68 extracellular region central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(11)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 32 GATGAGCAGTCTGCCAAAACT 0.338000 6 10 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179455517 179455517 + Missense_Mutation SNP T T G TCGA-P5-A72W-01A-11D-A32B-08 TCGA-P5-A72W-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 05432584-7c2a-4d75-8d0d-ead071120a4e 971c526c-a94b-4e27-a8c8-f009ef80fba4 g.chr2:179455517T>G ENST00000589042.1 - 304 61159 c.60935A>C c.(60934-60936)gAa>gCa p.E20312A TTN_ENST00000342992.6_Missense_Mutation_p.E17744A|TTN_ENST00000342175.6_Missense_Mutation_p.E11439A|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E18671A|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E11247A|TTN_ENST00000359218.5_Missense_Mutation_p.E11372A NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 18671 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GCCAGTTACTTCTCGACGTTC 0.438000 36 42 0 0 1 0 0 DPEP3 64180 broad.mit.edu 37 16 68010039 68010039 + Missense_Mutation SNP A A G TCGA-P5-A72W-01A-11D-A32B-08 TCGA-P5-A72W-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 05432584-7c2a-4d75-8d0d-ead071120a4e 971c526c-a94b-4e27-a8c8-f009ef80fba4 g.chr16:68010039A>G ENST00000268793.4 - 9 1635 c.1262T>C c.(1261-1263)gTc>gCc p.V421A NM_001129758.1|NM_022357.3 NP_001123230.1|NP_071752.3 Q9H4B8 DPEP3_HUMAN dipeptidase 3 396 meiosis anchored to membrane dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity breast(4)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2) 20 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0117)|Epithelial(162;0.0481)|all cancers(182;0.236) TCCACGAAGGACACCTTGAAG 0.557000 50 89 0 0 1 0 0 PROCR 10544 broad.mit.edu 37 20 33762688 33762688 + Missense_Mutation SNP G G A TCGA-P5-A72W-01A-11D-A32B-08 TCGA-P5-A72W-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 05432584-7c2a-4d75-8d0d-ead071120a4e 971c526c-a94b-4e27-a8c8-f009ef80fba4 g.chr20:33762688G>A ENST00000216968.4 + 2 336 c.254G>A c.(253-255)gGc>gAc p.G85D EDEM2_ENST00000540582.1_Intron NM_006404.3 NP_006395.2 Q9UNN8 EPCR_HUMAN protein C receptor, endothelial 85 antigen processing and presentation|blood coagulation|immune response integral to plasma membrane|MHC class I protein complex receptor activity breast(1)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1) 10 BRCA - Breast invasive adenocarcinoma(18;0.0152) Drotrecogin alfa(DB00055) ACGCAGAGTGGCCTGCAGTCC 0.677000 14 13 0 0 1 0 0 SSSCA1 10534 broad.mit.edu 37 11 65338967 65338967 + Missense_Mutation SNP G G C TCGA-P5-A72W-01A-11D-A32B-08 TCGA-P5-A72W-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 05432584-7c2a-4d75-8d0d-ead071120a4e 971c526c-a94b-4e27-a8c8-f009ef80fba4 g.chr11:65338967G>C ENST00000531405.1 + 3 487 c.251G>C c.(250-252)cGt>cCt p.R84P SSSCA1_ENST00000309328.3_Missense_Mutation_p.R121P|SSSCA1_ENST00000526877.1_3'UTR|SSSCA1_ENST00000527920.1_Intron O60232 SSA27_HUMAN Sjogren syndrome/scleroderma autoantigen 1 121 cell division|mitosis protein binding kidney(1)|lung(4)|ovary(1)|prostate(1)|skin(1) 8 CCAGTACCTCGTCCGGAGCAC 0.662000 7 86 0 0 1 0 0 PLCB4 5332 broad.mit.edu 37 20 9400537 9400537 + Missense_Mutation SNP C C G TCGA-P5-A72W-01A-11D-A32B-08 TCGA-P5-A72W-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 05432584-7c2a-4d75-8d0d-ead071120a4e 971c526c-a94b-4e27-a8c8-f009ef80fba4 g.chr20:9400537C>G ENST00000378501.2 + 22 2114 c.2099C>G c.(2098-2100)gCa>gGa p.A700G PLCB4_ENST00000278655.4_Missense_Mutation_p.A700G|PLCB4_ENST00000414679.2_Missense_Mutation_p.A712G|PLCB4_ENST00000378493.1_Missense_Mutation_p.A700G|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000378473.3_Missense_Mutation_p.A712G|PLCB4_ENST00000334005.3_Missense_Mutation_p.A700G NM_000933.3 NP_000924.3 Q15147 PLCB4_HUMAN phospholipase C, beta 4 700 C2. intracellular signal transduction|lipid catabolic process cytosol calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1) 87 GGTGTTATTGCAGCCACTTGC 0.423000 13 61 0 0 1 0 0 TARBP1 6894 broad.mit.edu 37 1 234546220 234546220 + Missense_Mutation SNP C C G TCGA-P5-A72W-01A-11D-A32B-08 TCGA-P5-A72W-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 05432584-7c2a-4d75-8d0d-ead071120a4e 971c526c-a94b-4e27-a8c8-f009ef80fba4 g.chr1:234546220C>G ENST00000040877.1 - 23 3762 c.3763G>C c.(3763-3765)Gac>Cac p.D1255H NM_005646.3 NP_005637.3 Q13395 TARB1_HUMAN TAR (HIV-1) RNA binding protein 1 1255 regulation of transcription from RNA polymerase II promoter|RNA processing nucleus RNA binding|RNA methyltransferase activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4) 55 Ovarian(103;0.0339) all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172) OV - Ovarian serous cystadenocarcinoma(106;0.000263) GTAATAATGTCTAAATGTGAT 0.244000 13 17 0 0 1 0 0 ZNF831 128611 broad.mit.edu 37 20 57768516 57768516 + Silent SNP G G A TCGA-P5-A72W-01A-11D-A32B-08 TCGA-P5-A72W-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 05432584-7c2a-4d75-8d0d-ead071120a4e 971c526c-a94b-4e27-a8c8-f009ef80fba4 g.chr20:57768516G>A ENST00000371030.2 + 1 2442 c.2442G>A c.(2440-2442)ggG>ggA p.G814G NM_178457.1 NP_848552.1 Q5JPB2 ZN831_HUMAN zinc finger protein 831 814 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) GGGGCTCAGGGGAGGACAAGC 0.642000 4 30 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7577568 7577568 + Missense_Mutation SNP C C A TCGA-P5-A72W-01A-11D-A32B-08 TCGA-P5-A72W-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 05432584-7c2a-4d75-8d0d-ead071120a4e 971c526c-a94b-4e27-a8c8-f009ef80fba4 g.chr17:7577568C>A ENST00000420246.2 - 7 845 c.713G>T c.(712-714)tGt>tTt p.C238F TP53_ENST00000269305.4_Missense_Mutation_p.C238F|TP53_ENST00000359597.4_Missense_Mutation_p.C238F|TP53_ENST00000455263.2_Missense_Mutation_p.C238F|TP53_ENST00000445888.2_Missense_Mutation_p.C238F|TP53_ENST00000413465.2_Missense_Mutation_p.C238F NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 238 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity). C -> F (in sporadic cancers; somatic mutation).|C -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|C -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in a familial cancer not matching 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.C238Y(65)|p.C238F(46)|p.C238S(9)|p.0?(8)|p.?(5)|p.C145F(5)|p.C145Y(5)|p.M237_N239delMCN(4)|p.C238fs*21(1)|p.M237fs*1(1)|p.M144_N146delMCN(1)|p.C238del(1)|p.Y236_M243delYMCNSSCM(1)|p.V225fs*23(1)|p.H233fs*6(1)|p.C238_M246delCNSSCMGGM(1)|p.H233_C242del10(1)|p.N239_C242del(1)|p.C145S(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) GGAACTGTTACACATGTAGTT 0.572000 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) 20 3 5.26018e-13 5.36332e-13 1 1 0 DENND4B 9909 broad.mit.edu 37 1 153912182 153912182 + Missense_Mutation SNP C C T TCGA-P5-A72W-01A-11D-A32B-08 TCGA-P5-A72W-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 05432584-7c2a-4d75-8d0d-ead071120a4e 971c526c-a94b-4e27-a8c8-f009ef80fba4 g.chr1:153912182C>T ENST00000361217.4 - 12 2120 c.1702G>A c.(1702-1704)Gga>Aga p.G568R NM_014856.2 NP_055671.2 O75064 DEN4B_HUMAN DENN/MADD domain containing 4B 568 dDENN. NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1) 36 all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) AGGAAGGCTCCTTGGACTTCG 0.627000 18 47 0 0 1 0 0 OR2T6 254879 broad.mit.edu 37 1 248551088 248551088 + Missense_Mutation SNP A A G TCGA-P5-A72W-01A-11D-A32B-08 TCGA-P5-A72W-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 05432584-7c2a-4d75-8d0d-ead071120a4e 971c526c-a94b-4e27-a8c8-f009ef80fba4 g.chr1:248551088A>G ENST00000355728.2 + 1 179 c.179A>G c.(178-180)tAc>tGc p.Y60C NM_001005471.1 NP_001005471.1 Q8NHC8 OR2T6_HUMAN olfactory receptor, family 2, subfamily T, member 6 60 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|large_intestine(5)|lung(38)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 55 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) ACCCCCATGTACTTCCTCCTC 0.483000 10 39 0 0 1 0 0 HNRNPC 3183 broad.mit.edu 37 14 21702141 21702141 + Missense_Mutation SNP T T A TCGA-P5-A72W-01A-11D-A32B-08 TCGA-P5-A72W-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 05432584-7c2a-4d75-8d0d-ead071120a4e 971c526c-a94b-4e27-a8c8-f009ef80fba4 g.chr14:21702141T>A ENST00000430246.2 - 2 3163 c.212A>T c.(211-213)gAt>gTt p.D71V HNRNPC_ENST00000320084.7_Missense_Mutation_p.D71V|HNRNPC_ENST00000553753.1_Missense_Mutation_p.D71V|HNRNPC_ENST00000336053.6_Missense_Mutation_p.D71V|HNRNPC_ENST00000449098.1_Missense_Mutation_p.D71V|HNRNPC_ENST00000556897.1_Missense_Mutation_p.D71V|HNRNPC_ENST00000556628.1_Intron|HNRNPC_ENST00000554455.1_Missense_Mutation_p.D71V|HNRNPC_ENST00000556513.1_Missense_Mutation_p.D71V|HNRNPC_ENST00000556142.1_Missense_Mutation_p.D71V|HNRNPC_ENST00000555883.1_Missense_Mutation_p.D71V|HNRNPC_ENST00000555914.1_Missense_Mutation_p.D71V|HNRNPC_ENST00000553300.1_Missense_Mutation_p.D71V|HNRNPC_ENST00000555309.1_Missense_Mutation_p.D71V|HNRNPC_ENST00000420743.2_Missense_Mutation_p.D71V|HNRNPC_ENST00000554969.1_Missense_Mutation_p.D71V|HNRNPC_ENST00000557201.1_Missense_Mutation_p.D71V P07910 HNRPC_HUMAN heterogeneous nuclear ribonucleoprotein C (C1/C2) 71 RRM. catalytic step 2 spliceosome|nucleoplasm identical protein binding|nucleotide binding|RNA binding breast(1)|liver(1)|lung(6)|skin(1) 9 all_cancers(95;0.00176) Epithelial(56;1.08e-06)|all cancers(55;8.95e-06) GBM - Glioblastoma multiforme(265;0.00783) CATTCTGCCATCCTCTCCTGC 0.413000 39 42 0 0 1 0 0 PLCZ1 89869 broad.mit.edu 37 12 18847986 18847986 + Missense_Mutation SNP A A T TCGA-P5-A72W-01A-11D-A32B-08 TCGA-P5-A72W-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 05432584-7c2a-4d75-8d0d-ead071120a4e 971c526c-a94b-4e27-a8c8-f009ef80fba4 g.chr12:18847986A>T ENST00000266505.7 - 12 1582 c.1319T>A c.(1318-1320)cTg>cAg p.L440Q PLCZ1_ENST00000435379.1_Missense_Mutation_p.L245Q|PLCZ1_ENST00000447925.2_Missense_Mutation_p.L438Q|PLCZ1_ENST00000538330.1_Missense_Mutation_p.L222Q|PLCZ1_ENST00000541695.1_Missense_Mutation_p.L303Q|PLCZ1_ENST00000539875.1_Missense_Mutation_p.L247Q Q86YW0 PLCZ1_HUMAN phospholipase C, zeta 1 440 PI-PLC Y-box. 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) ATCCATGGGCAGACCAGGGGT 0.353000 19 51 0 0 1 0 0 PTER 9317 broad.mit.edu 37 10 16526678 16526678 + Missense_Mutation SNP A A G TCGA-P5-A72W-01A-11D-A32B-08 TCGA-P5-A72W-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 05432584-7c2a-4d75-8d0d-ead071120a4e 971c526c-a94b-4e27-a8c8-f009ef80fba4 g.chr10:16526678A>G ENST00000378000.1 + 3 541 c.295A>G c.(295-297)Aca>Gca p.T99A PTER_ENST00000423462.2_Missense_Mutation_p.T99A|PTER_ENST00000535784.2_Missense_Mutation_p.T99A|PTER_ENST00000298942.3_Missense_Mutation_p.T99A NM_001001484.2|NM_001261838.1|NM_030664.4 NP_001001484.1|NP_001248767.1|NP_109589.2 Q96BW5 PTER_HUMAN phosphotriesterase related 99 catabolic process hydrolase activity, acting on ester bonds|zinc ion binding endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(2) 15 GGTGGAAAACACAACCACTGG 0.443000 23 32 0 0 1 0 0 RP11-798G7.5 0 broad.mit.edu 37 17 43587569 43587569 + RNA SNP G G C rs149697015 by1000genomes TCGA-P5-A72W-01A-11D-A32B-08 TCGA-P5-A72W-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 05432584-7c2a-4d75-8d0d-ead071120a4e 971c526c-a94b-4e27-a8c8-f009ef80fba4 g.chr17:43587569G>C ENST00000253803.2 + 0 267 LRRC37A4P_ENST00000579913.1_RNA aactccgtctgaaaagaaaag 0.443000 3 41 0 0 1 0 0 RP11-343N15.1 0 broad.mit.edu 37 1 121137791 121137793 + RNA DEL CCA CCA - rs28552466 by1000genomes TCGA-P5-A72W-01A-11D-A32B-08 TCGA-P5-A72W-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 05432584-7c2a-4d75-8d0d-ead071120a4e 971c526c-a94b-4e27-a8c8-f009ef80fba4 g.chr1:121137791_121137793delCCA ENST00000437515.1 - 0 329 ATTTCGCCCTCCACCGCCGCCGC 0.631 2 4 --- --- --- --- SCAP 22937 broad.mit.edu 37 3 47455478 47455481 + Frame_Shift_Del DEL CTGT CTGT - TCGA-P5-A72W-01A-11D-A32B-08 TCGA-P5-A72W-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 05432584-7c2a-4d75-8d0d-ead071120a4e 971c526c-a94b-4e27-a8c8-f009ef80fba4 g.chr3:47455478_47455481delCTGT ENST00000265565.5 - 23 4115_4118 c.3703_3706delACAG c.(3703-3708)tcfs p.TV1235fs SCAP_ENST00000545718.1_Frame_Shift_Del_p.TV842fs|SCAP_ENST00000441517.2_Frame_Shift_Del_p.TV979fs NM_012235.2 NP_036367.2 Q12770 SCAP_HUMAN SREBF chaperone 1235 Interaction with SREBF2 (By similarity). cholesterol metabolic process|negative regulation of cholesterol biosynthetic process|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of transcription via sterol regulatory element binding involved in ER-nuclear sterol response pathway endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane unfolded protein binding endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 26 BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679) CCCAGGTAGACTGTCTGTAACAGG 0.583 8 210 --- --- --- --- XRRA1 143570 broad.mit.edu 37 11 74618234 74618235 + Frame_Shift_Del DEL TC TC - TCGA-P5-A72W-01A-11D-A32B-08 TCGA-P5-A72W-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 05432584-7c2a-4d75-8d0d-ead071120a4e 971c526c-a94b-4e27-a8c8-f009ef80fba4 g.chr11:74618234_74618235delTC ENST00000340360.6 - 9 1047_1048 c.716_717delGA c.(715-717)afs p.R239fs XRRA1_ENST00000321448.8_Frame_Shift_Del_p.R6fs|RP11-147I3.1_ENST00000533875.1_RNA|XRRA1_ENST00000527087.1_Frame_Shift_Del_p.R239fs NM_182969.2 NP_892014.1 Q6P2D8 XRRA1_HUMAN X-ray radiation resistance associated 1 239 response to X-ray cytoplasm|nucleus breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(3) 20 GGTTGGAGAGTCTGTTGTCATC 0.550 38 78 --- --- --- --- EXOC3L4 91828 broad.mit.edu 37 14 103571146 103571146 + Frame_Shift_Del DEL C C - TCGA-P5-A72W-01A-11D-A32B-08 TCGA-P5-A72W-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 05432584-7c2a-4d75-8d0d-ead071120a4e 971c526c-a94b-4e27-a8c8-f009ef80fba4 g.chr14:103571146delC ENST00000380069.3 + 5 1432 c.1356delC c.(1354-1356)tgfs p.C452fs NM_001077594.1 NP_001071062.1 Q17RC7 EX3L4_HUMAN exocyst complex component 3-like 4 452 cervix(2)|endometrium(2)|lung(4)|ovary(1)|skin(1) 10 TGCGAATCTGCACGCGGGCGC 0.721 2 4 --- --- --- --- AC011537.3 0 broad.mit.edu 37 19 15880338 15880340 + RNA DEL CTT CTT - TCGA-P5-A72W-01A-11D-A32B-08 TCGA-P5-A72W-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 05432584-7c2a-4d75-8d0d-ead071120a4e 971c526c-a94b-4e27-a8c8-f009ef80fba4 g.chr19:15880338_15880340delCTT ENST00000595525.1 + 0 529 CYP4F24P_ENST00000587443.2_RNA TCCCTTCCCACTTGGGGAGCAGA 0.493 21 17 --- --- --- --- PICK1 9463 broad.mit.edu 37 22 38455269 38455269 + Frame_Shift_Del DEL A A - TCGA-P5-A72W-01A-11D-A32B-08 TCGA-P5-A72W-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 05432584-7c2a-4d75-8d0d-ead071120a4e 971c526c-a94b-4e27-a8c8-f009ef80fba4 g.chr22:38455269delA ENST00000404072.3 + 3 417 c.70delA c.(70-72)ccfs p.T24fs PICK1_ENST00000468288.1_3'UTR|PICK1_ENST00000356976.3_Frame_Shift_Del_p.T24fs|RP5-1039K5.13_ENST00000445483.1_RNA NM_001039583.1|NM_001039584.1 NP_001034672.1|NP_001034673.1 Q9NRD5 PICK1_HUMAN protein interacting with PRKCA 1 24 PDZ. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|DNA methylation involved in embryo development|DNA methylation involved in gamete generation|monoamine transport|neuronal ion channel clustering|protein phosphorylation|receptor clustering|retrograde vesicle-mediated transport, Golgi to ER|synaptic transmission cell junction|endocytic vesicle membrane|Golgi apparatus|perinuclear region of cytoplasm|presynaptic membrane ATPase activity|metal ion binding|protein C-terminus binding|protein kinase C binding|receptor binding cervix(1)|endometrium(3)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1) 13 Melanoma(58;0.045) TGGGAAGGTGACCCTGCAGAA 0.567 2 4 --- --- --- ---