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 RAB40C 57799 broad.mit.edu 37 16 677517 677517 + Silent SNP C C T TCGA-F6-A8O4-01A-11D-A36O-08 TCGA-F6-A8O4-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1b84738a-cf7a-4a77-ad75-1dfd122b8b53 9e076e01-70de-4838-93e2-3dd3b262ee64 g.chr16:677517C>T ENST00000535977.1 + 7 963 c.741C>T c.(739-741)gcC>gcT p.A247A RAB40C_ENST00000248139.3_Silent_p.A247A|RAB40C_ENST00000539661.1_Silent_p.A247A|RAB40C_ENST00000538492.1_Silent_p.A247A NM_001172663.1 NP_001166134.1 Q96S21 RB40C_HUMAN RAB40C, member RAS oncogene family 247 protein transport|small GTPase mediated signal transduction plasma membrane GTP binding NS(1)|endometrium(2)|large_intestine(1)|lung(1)|prostate(1) 6 Hepatocellular(780;0.0218) CCAGCGGGGCCGGGGGCGGCG 0.642000 4 86 0 0 1 0 0 CROCCP2 0 broad.mit.edu 37 1 16956555 16956555 + RNA SNP C C T rs9329440 by1000genomes TCGA-F6-A8O4-01A-11D-A36O-08 TCGA-F6-A8O4-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1b84738a-cf7a-4a77-ad75-1dfd122b8b53 9e076e01-70de-4838-93e2-3dd3b262ee64 g.chr1:16956555C>T ENST00000412962.1 - 0 294 CTCTAGGGCCCGCCGCTCACT 0.607000 7 26 0 0 1 0 0 SCN11A 11280 broad.mit.edu 37 3 38888474 38888474 + Missense_Mutation SNP C C T TCGA-F6-A8O4-01A-11D-A36O-08 TCGA-F6-A8O4-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1b84738a-cf7a-4a77-ad75-1dfd122b8b53 9e076e01-70de-4838-93e2-3dd3b262ee64 g.chr3:38888474C>T ENST00000302328.3 - 26 5285 c.5087G>A c.(5086-5088)gGc>gAc p.G1696D SCN11A_ENST00000456224.3_Missense_Mutation_p.G1658D|SCN11A_ENST00000450244.1_Missense_Mutation_p.G1696D NM_014139.2 NP_054858.2 Q9UI33 SCNBA_HUMAN sodium channel, voltage-gated, type XI, alpha subunit 1696 response to drug voltage-gated sodium channel complex voltage-gated sodium channel activity NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3) 119 Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226) Cocaine(DB00907) GCCATCAGAGCCACCGAGTAC 0.448000 44 74 0 0 1 0 0 GPC5 2262 broad.mit.edu 37 13 92560208 92560208 + Missense_Mutation SNP T T C TCGA-F6-A8O4-01A-11D-A36O-08 TCGA-F6-A8O4-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1b84738a-cf7a-4a77-ad75-1dfd122b8b53 9e076e01-70de-4838-93e2-3dd3b262ee64 g.chr13:92560208T>C ENST00000377067.3 + 6 1670 c.1298T>C c.(1297-1299)gTt>gCt p.V433A NM_004466.4 NP_004457.1 P78333 GPC5_HUMAN glypican 5 433 anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix heparan sulfate proteoglycan binding NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 69 all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163) Lung NSC(4;0.00454) CAGCGTGTGGTTGGAAATGGA 0.383000 3 47 0 0 1 0 0 UBQLN1 29979 broad.mit.edu 37 9 86284200 86284200 + Missense_Mutation SNP T T C TCGA-F6-A8O4-01A-11D-A36O-08 TCGA-F6-A8O4-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1b84738a-cf7a-4a77-ad75-1dfd122b8b53 9e076e01-70de-4838-93e2-3dd3b262ee64 g.chr9:86284200T>C ENST00000376395.4 - 7 1671 c.1148A>G c.(1147-1149)cAa>cGa p.Q383R UBQLN1_ENST00000257468.7_Missense_Mutation_p.Q383R NM_013438.4|NM_053067.2 NP_038466.2|NP_444295.1 Q9UMX0 UBQL1_HUMAN ubiquilin 1 383 apoptosis|regulation of protein ubiquitination|response to hypoxia endoplasmic reticulum|nucleus|perinuclear region of cytoplasm|proteasome complex kinase binding breast(4)|endometrium(2)|kidney(4)|large_intestine(6)|lung(10)|prostate(1) 27 TTCAGTTATTTGTTGCAACAA 0.378000 9 26 0 0 1 0 0 DUSP27 92235 broad.mit.edu 37 1 167097663 167097663 + Missense_Mutation SNP G G A TCGA-F6-A8O4-01A-11D-A36O-08 TCGA-F6-A8O4-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1b84738a-cf7a-4a77-ad75-1dfd122b8b53 9e076e01-70de-4838-93e2-3dd3b262ee64 g.chr1:167097663G>A ENST00000361200.2 + 6 3461 c.3295G>A c.(3295-3297)Gga>Aga p.G1099R DUSP27_ENST00000443333.1_Missense_Mutation_p.G1099R|DUSP27_ENST00000271385.5_Missense_Mutation_p.G1099R|DUSP27_ENST00000485151.1_Intron Q5VZP5 DUS27_HUMAN dual specificity phosphatase 27 (putative) 1099 protein dephosphorylation protein tyrosine/serine/threonine phosphatase activity p.G1099*(1) NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3) 89 TGAAGAAGAGGGAGAGAAAGA 0.498000 4 14 0 0 1 0 0 NLRP2 55655 broad.mit.edu 37 19 55495054 55495054 + Missense_Mutation SNP C C T TCGA-F6-A8O4-01A-11D-A36O-08 TCGA-F6-A8O4-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1b84738a-cf7a-4a77-ad75-1dfd122b8b53 9e076e01-70de-4838-93e2-3dd3b262ee64 g.chr19:55495054C>T ENST00000543010.1 + 6 2131 c.1988C>T c.(1987-1989)cCg>cTg p.P663L NLRP2_ENST00000391721.4_Missense_Mutation_p.P639L|NLRP2_ENST00000339757.7_Missense_Mutation_p.P641L|NLRP2_ENST00000427260.2_Missense_Mutation_p.P640L|NLRP2_ENST00000538819.1_Missense_Mutation_p.P639L|NLRP2_ENST00000537859.1_Missense_Mutation_p.P641L|NLRP2_ENST00000448584.2_Missense_Mutation_p.P663L|NLRP2_ENST00000263437.6_Missense_Mutation_p.P660L NM_001174081.1 NP_001167552.1 Q9NX02 NALP2_HUMAN NLR family, pyrin domain containing 2 663 apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion cytoplasm ATP binding|Pyrin domain binding large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3) 11 BRCA - Breast invasive adenocarcinoma(297;0.163) GBM - Glioblastoma multiforme(193;0.028) GAGAATCTCCCGGAGAATGTC 0.493000 14 29 0 0 1 0 0 ZNF107 51427 broad.mit.edu 37 7 64168484 64168484 + Missense_Mutation SNP T T C TCGA-F6-A8O4-01A-11D-A36O-08 TCGA-F6-A8O4-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1b84738a-cf7a-4a77-ad75-1dfd122b8b53 9e076e01-70de-4838-93e2-3dd3b262ee64 g.chr7:64168484T>C ENST00000395391.1 + 4 3177 c.1802T>C c.(1801-1803)aTt>aCt p.I601T ZNF107_ENST00000423627.1_Missense_Mutation_p.I601T|ZNF107_ENST00000344930.3_Missense_Mutation_p.I601T Q9UII5 ZN107_HUMAN zinc finger protein 107 601 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(18)|ovary(1)|stomach(1) 37 Lung NSC(55;0.00948)|all_lung(88;0.0249) CATAAGATAATTTATACTGGA 0.328000 27 30 0 0 1 0 0 CNOT6 57472 broad.mit.edu 37 5 179998424 179998424 + Missense_Mutation SNP G G A TCGA-F6-A8O4-01A-11D-A36O-08 TCGA-F6-A8O4-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1b84738a-cf7a-4a77-ad75-1dfd122b8b53 9e076e01-70de-4838-93e2-3dd3b262ee64 g.chr5:179998424G>A ENST00000393356.1 + 13 1877 c.1453G>A c.(1453-1455)Gat>Aat p.D485N CNOT6_ENST00000261951.4_Missense_Mutation_p.D485N Q9ULM6 CNOT6_HUMAN CCR4-NOT transcription complex, subunit 6 485 nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nucleus exonuclease activity|metal ion binding|protein binding|RNA binding central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|skin(1) 23 all_cancers(89;3.3e-05)|all_epithelial(37;7.38e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114) all_cancers(40;0.00543)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) OV - Ovarian serous cystadenocarcinoma(192;0.023) TTACACATTTGATTTCAAGGT 0.413000 23 37 0 0 1 0 0 CSF2RA 0 broad.mit.edu 37 X 1409341 1409341 + Silent SNP C C T rs140515543 TCGA-F6-A8O4-01A-11D-A36O-08 TCGA-F6-A8O4-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1b84738a-cf7a-4a77-ad75-1dfd122b8b53 9e076e01-70de-4838-93e2-3dd3b262ee64 g.chrX:1409341C>T ENST00000381524.3 + 7 771 c.585C>T c.(583-585)aaC>aaT p.N195N CSF2RA_ENST00000501036.2_Silent_p.N62N|CSF2RA_ENST00000381529.3_Silent_p.N195N|CSF2RA_ENST00000355432.3_Silent_p.N195N|CSF2RA_ENST00000432318.2_Silent_p.N195N|CSF2RA_ENST00000361536.3_Silent_p.N195N|CSF2RA_ENST00000381500.1_Silent_p.N195N|CSF2RA_ENST00000417535.2_Silent_p.N195N|CSF2RA_ENST00000381509.3_Silent_p.N195N|CSF2RA_ENST00000355805.2_Silent_p.N195N P15509 CSF2R_HUMAN colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage) 195 extracellular region|integral to plasma membrane cytokine receptor activity central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 45 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) Sargramostim(DB00020) TTCTGGTTAACGGAACCAGCC 0.398000 108 212 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7578406 7578406 + Missense_Mutation SNP C C T rs28934578 TCGA-F6-A8O4-01A-11D-A36O-08 TCGA-F6-A8O4-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1b84738a-cf7a-4a77-ad75-1dfd122b8b53 9e076e01-70de-4838-93e2-3dd3b262ee64 g.chr17:7578406C>T ENST00000420246.2 - 5 656 c.524G>A c.(523-525)cGc>cAc p.R175H TP53_ENST00000445888.2_Missense_Mutation_p.R175H|TP53_ENST00000455263.2_Missense_Mutation_p.R175H|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000269305.4_Missense_Mutation_p.R175H|TP53_ENST00000359597.4_Missense_Mutation_p.R175H|TP53_ENST00000413465.2_Missense_Mutation_p.R175H NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 175 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934578).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (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.R175H(847)|p.R43H(36)|p.R82H(36)|p.R175L(19)|p.0?(8)|p.R175P(6)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*5(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(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) GTGGGGGCAGCGCCTCACAAC 0.652000 R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY) 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) 26 45 0 0 1 0 0 NLRP14 338323 broad.mit.edu 37 11 7067952 7067952 + Missense_Mutation SNP C C A TCGA-F6-A8O4-01A-11D-A36O-08 TCGA-F6-A8O4-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1b84738a-cf7a-4a77-ad75-1dfd122b8b53 9e076e01-70de-4838-93e2-3dd3b262ee64 g.chr11:7067952C>A ENST00000299481.4 + 5 2358 c.2012C>A c.(2011-2013)aCa>aAa p.T671K NM_176822.3 NP_789792.1 Q86W24 NAL14_HUMAN NLR family, pyrin domain containing 14 671 cell differentiation|multicellular organismal development|spermatogenesis ATP binding breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 21 Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871) GTGCTTCATACAAATGAACAC 0.368000 26 114 9.86323e-18 1.02658e-17 1 1 0 CNTN4 152330 broad.mit.edu 37 3 2967440 2967440 + Silent SNP G G A TCGA-F6-A8O4-01A-11D-A36O-08 TCGA-F6-A8O4-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1b84738a-cf7a-4a77-ad75-1dfd122b8b53 9e076e01-70de-4838-93e2-3dd3b262ee64 g.chr3:2967440G>A ENST00000397461.1 + 12 1719 c.1335G>A c.(1333-1335)agG>agA p.R445R CNTN4_ENST00000475817.1_3'UTR|CNTN4_ENST00000448906.2_Silent_p.R117R|CNTN4_ENST00000427331.1_Silent_p.R445R|CNTN4_ENST00000418658.1_Silent_p.R445R|CNTN4_ENST00000397459.2_Silent_p.R117R|CNTN4_ENST00000358480.3_Silent_p.R226R NM_001206955.1 NP_001193884.1 Q8IWV2 CNTN4_HUMAN contactin 4 445 Ig-like C2-type 5. axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity anchored to membrane|axon|extracellular region|plasma membrane protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 61 Ovarian(110;0.156) Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01) AGAAAGGAAGGGATATATTAA 0.343000 4 76 0 0 1 0 0 YWHAG 7532 broad.mit.edu 37 7 75959375 75959375 + Missense_Mutation SNP T T C TCGA-F6-A8O4-01A-11D-A36O-08 TCGA-F6-A8O4-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1b84738a-cf7a-4a77-ad75-1dfd122b8b53 9e076e01-70de-4838-93e2-3dd3b262ee64 g.chr7:75959375T>C ENST00000307630.3 - 2 485 c.263A>G c.(262-264)aAg>aGg p.K88R NM_012479.3 NP_036611.2 P61981 1433G_HUMAN tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, gamma polypeptide 88 G2/M transition of mitotic cell cycle|regulation of neuron differentiation|regulation of signal transduction|regulation of synaptic plasticity cytosol insulin-like growth factor receptor binding|protein kinase C binding|protein kinase C inhibitor activity endometrium(2)|large_intestine(1)|lung(2)|ovary(2)|prostate(1) 8 CTTCTCTATCTTCTCCCGGTA 0.532000 54 88 0 0 1 0 0 TLE4 7091 broad.mit.edu 37 9 82336786 82336786 + Missense_Mutation SNP C C T TCGA-F6-A8O4-01A-11D-A36O-08 TCGA-F6-A8O4-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1b84738a-cf7a-4a77-ad75-1dfd122b8b53 9e076e01-70de-4838-93e2-3dd3b262ee64 g.chr9:82336786C>T ENST00000376520.4 + 18 2893 c.2065C>T c.(2065-2067)Cac>Tac p.H689Y TLE4_ENST00000376534.4_Missense_Mutation_p.H294Y|TLE4_ENST00000376537.4_Missense_Mutation_p.H689Y|TLE4_ENST00000376544.3_Missense_Mutation_p.H588Y|TLE4_ENST00000376552.2_Missense_Mutation_p.H657Y|TLE4_ENST00000265284.6_Missense_Mutation_p.H632Y O60756 BCE1_HUMAN transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila) 0 breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 39 GCTGCAGCAGCACGACTTCAC 0.557000 9 36 0 0 1 0 0 DEFB113 245927 broad.mit.edu 37 6 49936524 49936524 + Missense_Mutation SNP G G A TCGA-F6-A8O4-01A-11D-A36O-08 TCGA-F6-A8O4-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1b84738a-cf7a-4a77-ad75-1dfd122b8b53 9e076e01-70de-4838-93e2-3dd3b262ee64 g.chr6:49936524G>A ENST00000398718.1 - 2 114 c.115C>T c.(115-117)Cgt>Tgt p.R39C NM_001037729.1 NP_001032818.1 Q30KQ7 DB113_HUMAN defensin, beta 113 39 defense response to bacterium extracellular region p.R39C(1) breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3) 7 Lung NSC(77;0.042) CAAGCACCACGAACAAGCTGA 0.403000 3 38 0 0 1 0 0 PDE2A 5138 broad.mit.edu 37 11 72290400 72290400 + Missense_Mutation SNP G G A TCGA-F6-A8O4-01A-11D-A36O-08 TCGA-F6-A8O4-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1b84738a-cf7a-4a77-ad75-1dfd122b8b53 9e076e01-70de-4838-93e2-3dd3b262ee64 g.chr11:72290400G>A ENST00000334456.5 - 27 2529 c.2284C>T c.(2284-2286)Cgg>Tgg p.R762W PDE2A_ENST00000376450.3_Missense_Mutation_p.R506W|PDE2A_ENST00000544570.1_Missense_Mutation_p.R755W|PDE2A_ENST00000418754.2_Missense_Mutation_p.R647W|PDE2A_ENST00000444035.2_Missense_Mutation_p.R753W|PDE2A_ENST00000540345.1_Missense_Mutation_p.R753W NM_002599.4 NP_002590.1 O00408 PDE2A_HUMAN phosphodiesterase 2A, cGMP-stimulated 762 Catalytic (By similarity). platelet activation|signal transduction cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity|metal ion binding breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 36 BRCA - Breast invasive adenocarcinoma(5;3.55e-05) Sildenafil(DB00203)|Sulindac(DB00605) ATGATGTCCCGCATCAGATCC 0.607000 3 40 0 0 1 0 0 IDH1 3417 broad.mit.edu 37 2 209113112 209113112 + Missense_Mutation SNP C C T rs121913500 TCGA-F6-A8O4-01A-11D-A36O-08 TCGA-F6-A8O4-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1b84738a-cf7a-4a77-ad75-1dfd122b8b53 9e076e01-70de-4838-93e2-3dd3b262ee64 g.chr2:209113112C>T ENST00000415913.1 - 4 776 c.395G>A c.(394-396)cGt>cAt p.R132H IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_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 19 47 0 0 1 0 0 SPTLC2 9517 broad.mit.edu 37 14 77984443 77984443 + Missense_Mutation SNP T T C TCGA-F6-A8O4-01A-11D-A36O-08 TCGA-F6-A8O4-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1b84738a-cf7a-4a77-ad75-1dfd122b8b53 9e076e01-70de-4838-93e2-3dd3b262ee64 g.chr14:77984443T>C ENST00000216484.2 - 11 1700 c.1507A>G c.(1507-1509)Att>Gtt p.I503V NM_004863.3 NP_004854.1 O15270 SPTC2_HUMAN serine palmitoyltransferase, long chain base subunit 2 503 integral to membrane|serine C-palmitoyltransferase complex pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(5) 19 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0346) L-Serine(DB00133)|Pyridoxal Phosphate(DB00114) GACTCAATAATTGGGGTGGCA 0.463000 25 41 0 0 1 0 0 ABHD17B 51104 broad.mit.edu 37 9 74489680 74489680 + Missense_Mutation SNP T T C TCGA-F6-A8O4-01A-11D-A36O-08 TCGA-F6-A8O4-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1b84738a-cf7a-4a77-ad75-1dfd122b8b53 9e076e01-70de-4838-93e2-3dd3b262ee64 g.chr9:74489680T>C ENST00000333421.6 - 2 428 c.317A>G c.(316-318)cAa>cGa p.Q106R ABHD17B_ENST00000377041.2_Missense_Mutation_p.Q106R NM_001025780.1 NP_001020951.1 abhydrolase domain containing 17B GCTGCTCATTTGACCAAGATC 0.393000 34 44 0 0 1 0 0 OBSCN 84033 broad.mit.edu 37 1 228451927 228451927 + Missense_Mutation SNP A A C TCGA-F6-A8O4-01A-11D-A36O-08 TCGA-F6-A8O4-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1b84738a-cf7a-4a77-ad75-1dfd122b8b53 9e076e01-70de-4838-93e2-3dd3b262ee64 g.chr1:228451927A>C ENST00000570156.2 + 18 5322 c.5248A>C c.(5248-5250)Acg>Ccg p.T1750P OBSCN_ENST00000359599.6_Missense_Mutation_p.T222P|OBSCN_ENST00000284548.11_Missense_Mutation_p.T1566P|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000422127.1_Missense_Mutation_p.T1566P|OBSCN_ENST00000366707.4_5'UTR NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 738 Fibronectin type-III 2. 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) GACAGAGGTGACGTGGTACAA 0.662000 4 85 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7578538 7578538 + Missense_Mutation SNP T T C TCGA-F6-A8O4-01A-11D-A36O-08 TCGA-F6-A8O4-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1b84738a-cf7a-4a77-ad75-1dfd122b8b53 9e076e01-70de-4838-93e2-3dd3b262ee64 g.chr17:7578538T>C ENST00000420246.2 - 5 524 c.392A>G c.(391-393)aAc>aGc p.N131S TP53_ENST00000445888.2_Missense_Mutation_p.N131S|TP53_ENST00000455263.2_Missense_Mutation_p.N131S|TP53_ENST00000269305.4_Missense_Mutation_p.N131S|TP53_ENST00000359597.4_Missense_Mutation_p.N131S|TP53_ENST00000413465.2_Missense_Mutation_p.N131S NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 131 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. N -> D (in a sporadic cancer; somatic mutation).|N -> H (in sporadic cancers; somatic mutation).|N -> I (in sporadic cancers; somatic mutation).|N -> K (in sporadic cancers; somatic mutation).|N -> S (in sporadic cancers; somatic mutation).|N -> T (in a sporadic cancer; somatic mutation).|N -> Y (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.0?(8)|p.N131del(8)|p.N131I(7)|p.Y126_K132delYSPALNK(6)|p.Y126_N131delYSPALN(3)|p.N131S(3)|p.N131fs*27(2)|p.V73fs*9(1)|p.S127fs*36(1)|p.A129_K132delALNK(1)|p.Y126fs*11(1)|p.S127_Q136del10(1)|p.L130_M133delLNKM(1)|p.A129_N131delALN(1)|p.L130fs*16(1)|p.N131T(1)|p.N38I(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) AAACATCTTGTTGAGGGCAGG 0.557000 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) 13 21 0 0 1 0 0 CXCR1 3577 broad.mit.edu 37 2 219028901 219028901 + Missense_Mutation SNP T T C TCGA-F6-A8O4-01A-11D-A36O-08 TCGA-F6-A8O4-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1b84738a-cf7a-4a77-ad75-1dfd122b8b53 9e076e01-70de-4838-93e2-3dd3b262ee64 g.chr2:219028901T>C ENST00000295683.2 - 2 1154 c.1034A>G c.(1033-1035)aAt>aGt p.N345S NM_000634.2 NP_000625.1 P25024 CXCR1_HUMAN chemokine (C-X-C motif) receptor 1 345 dendritic cell chemotaxis|inflammatory response integral to membrane|plasma membrane interleukin-8 receptor activity endometrium(1)|large_intestine(2)|lung(7)|prostate(3) 13 GGAAGAGACATTGACAGACGA 0.478000 16 25 0 0 1 0 0 AC126323.1 0 broad.mit.edu 37 15 62535627 62535627 + RNA SNP G G A TCGA-F6-A8O4-01A-11D-A36O-08 TCGA-F6-A8O4-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1b84738a-cf7a-4a77-ad75-1dfd122b8b53 9e076e01-70de-4838-93e2-3dd3b262ee64 g.chr15:62535627G>A ENST00000408214.1 - 0 20 TCCCCCTGCCGTGCCCTGACC 0.587000 4 9 0 0 1 0 0 DIRAS3 9077 broad.mit.edu 37 1 68512673 68512673 + Missense_Mutation SNP C C T TCGA-F6-A8O4-01A-11D-A36O-08 TCGA-F6-A8O4-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1b84738a-cf7a-4a77-ad75-1dfd122b8b53 9e076e01-70de-4838-93e2-3dd3b262ee64 g.chr1:68512673C>T ENST00000370981.1 - 4 944 c.308G>A c.(307-309)cGc>cAc p.R103H DIRAS3_ENST00000395201.1_Missense_Mutation_p.R103H|GNG12-AS1_ENST00000420587.1_RNA|GNG12-AS1_ENST00000413628.1_RNA O95661 DIRA3_HUMAN DIRAS family, GTP-binding RAS-like 3 103 regulation of cyclin-dependent protein kinase activity|regulation of gene expression by genetic imprinting|small GTPase mediated signal transduction plasma membrane GTP binding|GTPase activity p.R103L(2) NS(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 TATAACGTGGCGCTGCAGAGC 0.577000 58 93 0 0 1 0 0 CTD-2049J23.2 0 broad.mit.edu 37 3 159820584 159820584 + RNA SNP C C T TCGA-F6-A8O4-01A-11D-A36O-08 TCGA-F6-A8O4-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1b84738a-cf7a-4a77-ad75-1dfd122b8b53 9e076e01-70de-4838-93e2-3dd3b262ee64 g.chr3:159820584C>T ENST00000497452.1 - 0 517 GTTGAGGCTGCCTGGTATTTG 0.333000 16 25 0 0 1 0 0 ATP8B3 148229 broad.mit.edu 37 19 1788945 1788945 + Missense_Mutation SNP C C T TCGA-F6-A8O4-01A-11D-A36O-08 TCGA-F6-A8O4-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1b84738a-cf7a-4a77-ad75-1dfd122b8b53 9e076e01-70de-4838-93e2-3dd3b262ee64 g.chr19:1788945C>T ENST00000539485.1 - 24 3283 c.3050G>A c.(3049-3051)aGc>aAc p.S1017N ATP8B3_ENST00000525591.1_Missense_Mutation_p.S970N|ATP8B3_ENST00000310127.6_Missense_Mutation_p.S1007N O60423 AT8B3_HUMAN ATPase, aminophospholipid transporter, class I, type 8B, member 3 1007 ATP biosynthetic process ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 23 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CACCATCATGCTGGCCATGCT 0.632000 3 14 0 0 1 0 0 PTRF 284119 broad.mit.edu 37 17 40557199 40557199 + Missense_Mutation SNP G G A rs145869708 TCGA-F6-A8O4-01A-11D-A36O-08 TCGA-F6-A8O4-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1b84738a-cf7a-4a77-ad75-1dfd122b8b53 9e076e01-70de-4838-93e2-3dd3b262ee64 g.chr17:40557199G>A ENST00000357037.5 - 2 1098 c.679C>T c.(679-681)Cgg>Tgg p.R227W NM_012232.5 NP_036364.2 Q6NZI2 PTRF_HUMAN polymerase I and transcript release factor 227 regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription initiation from RNA polymerase I promoter caveola|cytosol|endoplasmic reticulum|microsome|mitochondrion|nucleoplasm protein binding|rRNA primary transcript binding breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1) 17 all_cancers(22;0.00146)|Breast(137;0.00116)|all_epithelial(22;0.0134) BRCA - Breast invasive adenocarcinoma(366;0.193) TCCACGCGCCGCAGGCCGCTG 0.622000 4 105 0 0 1 0 0 SLC6A19 340024 broad.mit.edu 37 5 1221296 1221296 + Silent SNP C C A TCGA-F6-A8O4-01A-11D-A36O-08 TCGA-F6-A8O4-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1b84738a-cf7a-4a77-ad75-1dfd122b8b53 9e076e01-70de-4838-93e2-3dd3b262ee64 g.chr5:1221296C>A ENST00000304460.10 + 11 1625 c.1569C>A c.(1567-1569)ggC>ggA p.G523G NM_001003841.2 NP_001003841.1 Q695T7 S6A19_HUMAN solute carrier family 6 (neutral amino acid transporter), member 19 523 cellular nitrogen compound metabolic process integral to plasma membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 44 all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10) Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185) TCATGATCGGCCACAAGCCCA 0.542000 3 31 1 1 1 1 0 APC 324 broad.mit.edu 37 5 112176256 112176256 + Silent SNP A A C TCGA-F6-A8O4-01A-11D-A36O-08 TCGA-F6-A8O4-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1b84738a-cf7a-4a77-ad75-1dfd122b8b53 9e076e01-70de-4838-93e2-3dd3b262ee64 g.chr5:112176256A>C ENST00000457016.1 + 16 5345 c.4965A>C c.(4963-4965)acA>acC p.T1655T CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000257430.4_Silent_p.T1655T|APC_ENST00000508376.2_Silent_p.T1655T P25054 APC_HUMAN adenomatous polyposis coli 1655 Ser-rich. canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity p.K1192fs*3(1)|p.?(1) NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20) 3261 all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133) OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191) CCACAGCTACATCTCTAAGTG 0.448000 12 """D, Mis, N, F, S""" """colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS""" """colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS""" Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis TSP Lung(16;0.13) 28 31 0 0 1 0 0 PRAMEF11 440560 broad.mit.edu 37 1 12887677 12887677 + Silent SNP A A G TCGA-F6-A8O4-01A-11D-A36O-08 TCGA-F6-A8O4-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1b84738a-cf7a-4a77-ad75-1dfd122b8b53 9e076e01-70de-4838-93e2-3dd3b262ee64 g.chr1:12887677A>G ENST00000535591.1 - 3 375 c.180T>C c.(178-180)ctT>ctC p.L60L NM_001146344.1 NP_001139816.1 O60813 PRA11_HUMAN PRAME family member 11 60 NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1) 27 CCAGCACTTGAAGTTTCCATC 0.463000 4 215 0 0 1 0 0 PRG4 10216 broad.mit.edu 37 1 186276099 186276099 + Silent SNP C C T TCGA-F6-A8O4-01A-11D-A36O-08 TCGA-F6-A8O4-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1b84738a-cf7a-4a77-ad75-1dfd122b8b53 9e076e01-70de-4838-93e2-3dd3b262ee64 g.chr1:186276099C>T ENST00000445192.2 + 7 1293 c.1248C>T c.(1246-1248)acC>acT p.T416T PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367485.4_Silent_p.T323T|PRG4_ENST00000367483.4_Silent_p.T375T|PRG4_ENST00000367486.3_Silent_p.T373T NM_005807.3 NP_005798.2 Q92954 PRG4_HUMAN proteoglycan 4 416 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 CACCCACCACCACCAAGGAGC 0.657000 3 70 0 0 1 0 0 HERC1 8925 broad.mit.edu 37 15 63967167 63967167 + Missense_Mutation SNP C C T TCGA-F6-A8O4-01A-11D-A36O-08 TCGA-F6-A8O4-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1b84738a-cf7a-4a77-ad75-1dfd122b8b53 9e076e01-70de-4838-93e2-3dd3b262ee64 g.chr15:63967167C>T ENST00000443617.2 - 38 7307 c.7220G>A c.(7219-7221)gGc>gAc p.G2407D NM_003922.3 NP_003913.3 Q15751 HERC1_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 2407 protein modification process|transport cytosol|Golgi apparatus|membrane acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 132 GCTCTGTTTGCCCATGTCTTC 0.502000 45 97 0 0 1 0 0 TPH1 7166 broad.mit.edu 37 11 18051095 18051095 + Missense_Mutation SNP C C T TCGA-F6-A8O4-01A-11D-A36O-08 TCGA-F6-A8O4-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1b84738a-cf7a-4a77-ad75-1dfd122b8b53 9e076e01-70de-4838-93e2-3dd3b262ee64 g.chr11:18051095C>T ENST00000250018.2 - 4 996 c.434G>A c.(433-435)cGa>cAa p.R145Q TPH1_ENST00000341556.2_Missense_Mutation_p.R145Q NM_004179.2 NP_004170.1 P17752 TPH1_HUMAN tryptophan hydroxylase 1 145 aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process cytosol amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(14)|prostate(1)|stomach(1) 25 L-Tryptophan(DB00150)|Tetrahydrobiopterin(DB00360) AAAATACTTTCGACGTTTACG 0.264000 6 135 0 0 1 0 0 TRIM58 25893 broad.mit.edu 37 1 248028032 248028032 + Missense_Mutation SNP G G A rs147592698 by1000genomes TCGA-F6-A8O4-01A-11D-A36O-08 TCGA-F6-A8O4-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1b84738a-cf7a-4a77-ad75-1dfd122b8b53 9e076e01-70de-4838-93e2-3dd3b262ee64 g.chr1:248028032G>A ENST00000366481.3 + 3 590 c.542G>A c.(541-543)cGc>cAc p.R181H NM_015431.3 NP_056246.3 Q8NG06 TRI58_HUMAN tripartite motif containing 58 181 intracellular zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1) 63 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) all_cancers(173;0.0286) OV - Ovarian serous cystadenocarcinoma(106;0.0319) CAGAGGCAGCGCTTCAGATTG 0.592000 14 17 0 0 1 0 0 C1orf85 112770 broad.mit.edu 37 1 156262835 156262835 + Silent SNP T T C TCGA-F6-A8O4-01A-11D-A36O-08 TCGA-F6-A8O4-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1b84738a-cf7a-4a77-ad75-1dfd122b8b53 9e076e01-70de-4838-93e2-3dd3b262ee64 g.chr1:156262835T>C ENST00000362007.1 - 6 1247 c.1221A>G c.(1219-1221)taA>taG p.*407* C1orf85_ENST00000472870.1_5'UTR NM_001256604.1|NM_001256609.1|NM_144580.2 NP_001243533.1|NP_001243538.1|NP_653181.1 Q8WWB7 NCUG1_HUMAN chromosome 1 open reading frame 85 0 positive regulation of transcription from RNA polymerase II promoter cytosol|integral to membrane|lysosomal membrane|nucleus ligand-dependent nuclear receptor activity|protein binding transcription factor activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding breast(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(2)|prostate(2)|skin(3) 14 Hepatocellular(266;0.158) AGAGCGGGCCTTAATTTATGG 0.582000 34 52 0 0 1 0 0 PIFO 128344 broad.mit.edu 37 1 111891191 111891191 + Silent SNP A A G TCGA-F6-A8O4-01A-11D-A36O-08 TCGA-F6-A8O4-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1b84738a-cf7a-4a77-ad75-1dfd122b8b53 9e076e01-70de-4838-93e2-3dd3b262ee64 g.chr1:111891191A>G ENST00000369738.4 + 4 677 c.312A>G c.(310-312)aaA>aaG p.K104K PIFO_ENST00000369737.4_Silent_p.K71K|PIFO_ENST00000484512.1_3'UTR NM_181643.4 NP_857594.2 primary cilia formation AGCAGGAAAAACACAAACAAA 0.398000 14 260 0 0 1 0 0 MMP10 4319 broad.mit.edu 37 11 102647464 102647464 + Silent SNP G G T TCGA-F6-A8O4-01A-11D-A36O-08 TCGA-F6-A8O4-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1b84738a-cf7a-4a77-ad75-1dfd122b8b53 9e076e01-70de-4838-93e2-3dd3b262ee64 g.chr11:102647464G>T ENST00000279441.4 - 5 702 c.666C>A c.(664-666)tcC>tcA p.S222S NM_002425.2 NP_002416.1 P09238 MMP10_HUMAN matrix metallopeptidase 10 (stromelysin 2) 222 collagen catabolic process|proteolysis extracellular space|proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|liver(2)|lung(6) 22 all_epithelial(12;0.00961) all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) Epithelial(9;0.0303)|Lung(13;0.0828)|all cancers(10;0.116)|LUSC - Lung squamous cell carcinoma(19;0.151) BRCA - Breast invasive adenocarcinoma(274;0.0145) AGAGCCCCAGGGAGTGGCCAA 0.453000 17 40 6.94344e-10 7.08231e-10 1 1 0 STEAP2 261729 broad.mit.edu 37 7 89856666 89856666 + Missense_Mutation SNP C C G TCGA-F6-A8O4-01A-11D-A36O-08 TCGA-F6-A8O4-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1b84738a-cf7a-4a77-ad75-1dfd122b8b53 9e076e01-70de-4838-93e2-3dd3b262ee64 g.chr7:89856666C>G ENST00000287908.3 + 3 1267 c.874C>G c.(874-876)Cca>Gca p.P292A STEAP2_ENST00000394621.2_Missense_Mutation_p.P292A|STEAP2_ENST00000394629.2_Missense_Mutation_p.P292A|STEAP2_ENST00000394622.2_Missense_Mutation_p.P292A|STEAP2_ENST00000394626.1_Missense_Mutation_p.P292A|STEAP2_ENST00000394632.1_Missense_Mutation_p.P292A|STEAP2_ENST00000402625.2_Missense_Mutation_p.P292A NM_001244944.1|NM_152999.3 NP_001231873.1|NP_694544.2 Q8NFT2 STEA2_HUMAN STEAP family member 2, metalloreductase 292 Ferric oxidoreductase. electron transport chain|endocytosis|Golgi to plasma membrane transport|ion transport|iron ion homeostasis|regulated secretory pathway|response to hormone stimulus cytosol|early endosome|endosome membrane|integral to Golgi membrane|plasma membrane|trans-Golgi network transport vesicle|vesicular fraction electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity|transporter activity endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1) 15 all_hematologic(106;0.112) TAGGAGATTTCCACCTTGGTT 0.438000 5 166 0 0 1 0 0 RAB11FIP1 80223 broad.mit.edu 37 8 37729690 37729690 + Missense_Mutation SNP G G A TCGA-F6-A8O4-01A-11D-A36O-08 TCGA-F6-A8O4-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1b84738a-cf7a-4a77-ad75-1dfd122b8b53 9e076e01-70de-4838-93e2-3dd3b262ee64 g.chr8:37729690G>A ENST00000330843.4 - 4 2642 c.2630C>T c.(2629-2631)gCg>gTg p.A877V RAB11FIP1_ENST00000522727.1_Intron|RAB11FIP1_ENST00000523182.1_5'UTR|RAB11FIP1_ENST00000524118.1_Intron|RAB11FIP1_ENST00000287263.4_Intron NM_001002814.2 NP_001002814.2 Q6WKZ4 RFIP1_HUMAN RAB11 family interacting protein 1 (class I) 877 protein transport centrosome|phagocytic vesicle membrane|recycling endosome protein binding NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 49 Lung NSC(58;0.118)|all_lung(54;0.195) LUSC - Lung squamous cell carcinoma(8;3.62e-11) GGAGGCTGGCGCACCACACGT 0.617000 5 36 0 0 1 0 0 IQCG 84223 broad.mit.edu 37 3 197670672 197670672 + Missense_Mutation SNP C C T TCGA-F6-A8O4-01A-11D-A36O-08 TCGA-F6-A8O4-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1b84738a-cf7a-4a77-ad75-1dfd122b8b53 9e076e01-70de-4838-93e2-3dd3b262ee64 g.chr3:197670672C>T ENST00000265239.6 - 4 683 c.259G>A c.(259-261)Gaa>Aaa p.E87K IQCG_ENST00000480302.1_5'UTR|IQCG_ENST00000455191.1_Missense_Mutation_p.E87K|IQCG_ENST00000453254.1_Missense_Mutation_p.E87K NM_032263.3 NP_115639.1 Q9H095 IQCG_HUMAN IQ motif containing G 87 autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976) Epithelial(36;7.19e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07) GBM - Glioblastoma multiforme(93;0.149) TGTCTCCCTTCGTACTGAACG 0.453000 30 52 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9015351 9015351 + Missense_Mutation SNP G G A rs150789116 by1000genomes TCGA-F6-A8O4-01A-11D-A36O-08 TCGA-F6-A8O4-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1b84738a-cf7a-4a77-ad75-1dfd122b8b53 9e076e01-70de-4838-93e2-3dd3b262ee64 g.chr19:9015351G>A ENST00000397910.4 - 30 38440 c.38237C>T c.(38236-38238)cCt>cTt p.P12746L NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 12748 SEA 5. Missing (in Ref. 3; AAK74120). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 AGAGTACAGAGGGCCAACACT 0.512000 3 59 0 0 1 0 0 PHF5A 84844 broad.mit.edu 37 22 41863526 41863526 + Missense_Mutation SNP G G A TCGA-F6-A8O4-01A-11D-A36O-08 TCGA-F6-A8O4-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1b84738a-cf7a-4a77-ad75-1dfd122b8b53 9e076e01-70de-4838-93e2-3dd3b262ee64 g.chr22:41863526G>A ENST00000216252.3 - 3 240 c.169C>T c.(169-171)Cgc>Tgc p.R57C PHF5A_ENST00000491254.1_5'UTR NM_032758.3 NP_116147.1 Q7RTV0 PHF5A_HUMAN PHD finger protein 5A 57 nuclear mRNA splicing, via spliceosome|positive regulation of transcription, DNA-dependent nuclear speck|U12-type spliceosomal complex|U2 snRNP DNA binding|sequence-specific DNA binding transcription factor activity p.R57S(1) central_nervous_system(1)|large_intestine(2)|lung(1) 4 ATCACACAGCGCCCCTGGTAA 0.507000 8 20 0 0 1 0 0 SDHAP1 0 broad.mit.edu 37 3 195711343 195711344 + RNA INS - - T TCGA-F6-A8O4-01A-11D-A36O-08 TCGA-F6-A8O4-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1b84738a-cf7a-4a77-ad75-1dfd122b8b53 9e076e01-70de-4838-93e2-3dd3b262ee64 g.chr3:195711343_195711344insT ENST00000427841.1 - 0 585 NR_003264.2 AAAGACTTCTCTGTGAGCTTTG 0.381 4 5 --- --- --- --- PPP2R2D 55844 broad.mit.edu 37 10 133758825 133758825 + Translation_Start_Site DEL A A - TCGA-F6-A8O4-01A-11D-A36O-08 TCGA-F6-A8O4-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1b84738a-cf7a-4a77-ad75-1dfd122b8b53 9e076e01-70de-4838-93e2-3dd3b262ee64 g.chr10:133758825delA ENST00000422256.2 + 0 486 PPP2R2D_ENST00000470416.1_3'UTR Q66LE6 2ABD_HUMAN protein phosphatase 2, regulatory subunit B, delta cell division|exit from mitosis|mitosis|signal transduction cytoplasm|protein phosphatase type 2A complex protein phosphatase type 2A regulator activity endometrium(3)|large_intestine(3)|liver(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1) 13 all_cancers(35;2.16e-12)|all_epithelial(44;2.77e-09)|Lung NSC(174;0.00237)|all_lung(145;0.00354)|Colorectal(31;0.0124)|Breast(234;0.023)|all_neural(114;0.0299)|Melanoma(40;0.123)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;7.86e-05)|Epithelial(32;8.82e-05)|all cancers(32;0.000106)|BRCA - Breast invasive adenocarcinoma(275;0.21) GCCTGCTAACATGGAGGAGCT 0.527 37 45 --- --- --- --- AP5B1 91056 broad.mit.edu 37 11 65546069 65546069 + Frame_Shift_Del DEL C C - TCGA-F6-A8O4-01A-11D-A36O-08 TCGA-F6-A8O4-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1b84738a-cf7a-4a77-ad75-1dfd122b8b53 9e076e01-70de-4838-93e2-3dd3b262ee64 g.chr11:65546069delC ENST00000532090.2 - 2 2105 c.1895delG c.(1894-1896)gcfs p.G632fs NM_138368.4 NP_612377.4 Q2VPB7 YK046_HUMAN adaptor-related protein complex 5, beta 1 subunit 575 protein binding lung(1) 1 AAGCGAGGGGCCCAGGGCCAC 0.677 2 4 --- --- --- --- NOVA1 4857 broad.mit.edu 37 14 26917177 26917178 + Frame_Shift_Ins INS - - G TCGA-F6-A8O4-01A-11D-A36O-08 TCGA-F6-A8O4-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1b84738a-cf7a-4a77-ad75-1dfd122b8b53 9e076e01-70de-4838-93e2-3dd3b262ee64 g.chr14:26917177_26917178insG ENST00000539517.2 - 5 1828_1829 c.1511_1512insC c.(1510-1512)caafs p.Q504fs NOVA1_ENST00000465357.2_Frame_Shift_Ins_p.Q480fs|NOVA1_ENST00000267422.7_Frame_Shift_Ins_p.Q382fs NM_002515.2 NP_002506.2 P51513 NOVA1_HUMAN neuro-oncological ventral antigen 1 507 locomotory behavior|RNA splicing|synaptic transmission nucleus RNA binding breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 40 GBM - Glioblastoma multiforme(265;0.0135) AACCCACTTTCTGAGGATTGGC 0.431 19 43 --- --- --- --- ATRX 546 broad.mit.edu 37 X 76939666 76939669 + Frame_Shift_Del DEL TCAA TCAA - TCGA-F6-A8O4-01A-11D-A36O-08 TCGA-F6-A8O4-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1b84738a-cf7a-4a77-ad75-1dfd122b8b53 9e076e01-70de-4838-93e2-3dd3b262ee64 g.chrX:76939666_76939669delTCAA ENST00000373344.5 - 9 1293_1296 c.1079_1082delTTGA c.(1078-1083)agfs p.IE360fs ATRX_ENST00000395603.3_Frame_Shift_Del_p.IE322fs|ATRX_ENST00000480283.1_5'UTR NM_000489.3 NP_000480.2 P46100 ATRX_HUMAN alpha thalassemia/mental retardation syndrome X-linked 360 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) GGCTGTGGTCTCAATCAGTTTTTT 0.368 """Mis, F, N""" """Pancreatic neuroendocrine tumors, paediatric GBM""" ATR-X (alpha thalassemia/mental retardation) syndrome 72 23 --- --- --- ---