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 CRYM 1428 broad.mit.edu 37 16 21281137 21281137 + Missense_Mutation SNP A A G TCGA-RY-A83Z-01A-11D-A36O-08 TCGA-RY-A83Z-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx d271a752-7ca6-4aba-8228-ef9170578a6d dc098538-0bed-4cdf-8129-95b37d2fb1a2 g.chr16:21281137A>G ENST00000219599.3 - 6 728 c.463T>C c.(463-465)Ttc>Ctc p.F155L CRYM_ENST00000543948.1_Missense_Mutation_p.F155L|CRYM_ENST00000396023.2_Missense_Mutation_p.F155L|CRYM_ENST00000415987.2_Missense_Mutation_p.F113L NM_001888.3 NP_001879.1 Q14894 CRYM_HUMAN crystallin, mu 155 negative regulation of transcription from RNA polymerase II promoter|sensory perception of sound|thyroid hormone transport cytoplasm|nucleus|plasma membrane NADP binding|protein homodimerization activity|thyroid hormone binding|transcription corepressor activity large_intestine(1)|lung(3) 4 GBM - Glioblastoma multiforme(48;0.0573) Levothyroxine(DB00451) TGCTCTGTGAAGATCTCATAA 0.522000 31 30 0 0 1 0 0 ATP12A 479 broad.mit.edu 37 13 25281245 25281245 + Missense_Mutation SNP G G T TCGA-RY-A83Z-01A-11D-A36O-08 TCGA-RY-A83Z-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx d271a752-7ca6-4aba-8228-ef9170578a6d dc098538-0bed-4cdf-8129-95b37d2fb1a2 g.chr13:25281245G>T ENST00000218548.6 + 16 2605 c.2272G>T c.(2272-2274)Gca>Tca p.A758S ATP12A_ENST00000381946.3_Missense_Mutation_p.A752S NM_001185085.1|NM_001676.5 NP_001172014.1|NP_001667.4 P54707 AT12A_HUMAN ATPase, H+/K+ transporting, nongastric, alpha polypeptide 752 ATP biosynthetic process hydrogen:potassium-exchanging ATPase complex ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5) 74 Lung SC(185;0.0225)|Breast(139;0.077) all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228) Esomeprazole(DB00736)|Pantoprazole(DB00213) CATGGGGATAGCAGGTTCTGA 0.552000 5 35 1.23904e-05 1.27081e-05 1 1 0 LILRB5 0 broad.mit.edu 37 19 54758866 54758866 + Silent SNP C C T TCGA-RY-A83Z-01A-11D-A36O-08 TCGA-RY-A83Z-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx d271a752-7ca6-4aba-8228-ef9170578a6d dc098538-0bed-4cdf-8129-95b37d2fb1a2 g.chr19:54758866C>T ENST00000450632.1 - 6 1037 c.960G>A c.(958-960)caG>caA p.Q320Q LILRB5_ENST00000316219.5_Silent_p.Q329Q|LILRB5_ENST00000345866.6_Silent_p.Q229Q|LILRB5_ENST00000449561.2_Silent_p.Q329Q O75023 LIRB5_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5 329 cell surface receptor linked signaling pathway|defense response integral to membrane transmembrane receptor activity NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) TGGGGCCCGGCTGCACCGAGA 0.607000 12 2 0 0 1 0 0 ADAD1 132612 broad.mit.edu 37 4 123301233 123301233 + Missense_Mutation SNP C C A TCGA-RY-A83Z-01A-11D-A36O-08 TCGA-RY-A83Z-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx d271a752-7ca6-4aba-8228-ef9170578a6d dc098538-0bed-4cdf-8129-95b37d2fb1a2 g.chr4:123301233C>A ENST00000296513.2 + 3 194 c.9C>A c.(7-9)agC>agA p.S3R ADAD1_ENST00000388724.2_Missense_Mutation_p.S3R|ADAD1_ENST00000388725.2_Intron NM_139243.3 NP_640336.1 Q96M93 ADAD1_HUMAN adenosine deaminase domain containing 1 (testis-specific) 3 multicellular organismal development|RNA processing nucleus adenosine deaminase activity|double-stranded RNA binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 35 AAATGGCTAGCAACAATCATT 0.448000 11 19 0.000151284 0.000153199 1 1 0 ZNF733P 0 broad.mit.edu 37 7 62752443 62752443 + RNA SNP G G C TCGA-RY-A83Z-01A-11D-A36O-08 TCGA-RY-A83Z-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx d271a752-7ca6-4aba-8228-ef9170578a6d dc098538-0bed-4cdf-8129-95b37d2fb1a2 g.chr7:62752443G>C ENST00000331425.6 - 0 992 NR_003952.1 CTTATGTCTAGTAAGGTTTGA 0.438000 4 14 0 0 1 0 0 CATSPERB 79820 broad.mit.edu 37 14 92055893 92055893 + Missense_Mutation SNP G G A TCGA-RY-A83Z-01A-11D-A36O-08 TCGA-RY-A83Z-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx d271a752-7ca6-4aba-8228-ef9170578a6d dc098538-0bed-4cdf-8129-95b37d2fb1a2 g.chr14:92055893G>A ENST00000256343.3 - 24 3097 c.2941C>T c.(2941-2943)Cac>Tac p.H981Y NM_024764.2 NP_079040.2 Q9H7T0 CTSRB_HUMAN catsper channel auxiliary subunit beta 981 cell differentiation|multicellular organismal development|spermatogenesis integral to membrane NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2) 54 all_cancers(154;0.0663)|all_epithelial(191;0.236) TTCCAGTTGTGCCTCATGTTC 0.363000 14 48 0 0 1 0 0 RELN 5649 broad.mit.edu 37 7 103234846 103234846 + Silent SNP C C T TCGA-RY-A83Z-01A-11D-A36O-08 TCGA-RY-A83Z-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx d271a752-7ca6-4aba-8228-ef9170578a6d dc098538-0bed-4cdf-8129-95b37d2fb1a2 g.chr7:103234846C>T ENST00000428762.1 - 26 3792 c.3633G>A c.(3631-3633)caG>caA p.Q1211Q RELN_ENST00000343529.5_Silent_p.Q1211Q|RELN_ENST00000424685.2_Silent_p.Q1211Q NM_005045.3 NP_005036.2 P78509 RELN_HUMAN reelin 1211 axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2) 227 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) CGACTGCCCACTGGTCATAGT 0.507000 10 264 0 0 1 0 0 SLC16A2 6567 broad.mit.edu 37 X 73740894 73740894 + Missense_Mutation SNP G G A TCGA-RY-A83Z-01A-11D-A36O-08 TCGA-RY-A83Z-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx d271a752-7ca6-4aba-8228-ef9170578a6d dc098538-0bed-4cdf-8129-95b37d2fb1a2 g.chrX:73740894G>A ENST00000276033.5 + 2 888 c.722G>A c.(721-723)cGt>cAt p.R241H SLC16A2_ENST00000587091.1_Missense_Mutation_p.R167H P36021 MOT8_HUMAN solute carrier family 16, member 2 (thyroid hormone transporter) 167 integral to plasma membrane|membrane fraction monocarboxylic acid transmembrane transporter activity|symporter activity breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|skin(2) 21 Pyruvic acid(DB00119) TTCACTGACCGTTTGGGCTGC 0.512000 48 70 0 0 1 0 0 CR1 1378 broad.mit.edu 37 1 207741294 207741294 + Missense_Mutation SNP T T C TCGA-RY-A83Z-01A-11D-A36O-08 TCGA-RY-A83Z-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx d271a752-7ca6-4aba-8228-ef9170578a6d dc098538-0bed-4cdf-8129-95b37d2fb1a2 g.chr1:207741294T>C ENST00000367049.4 + 25 4078 c.4078T>C c.(4078-4080)Ttc>Ctc p.F1360L RP11-78B10.2_ENST00000597497.1_RNA|CR1_ENST00000367053.1_Missense_Mutation_p.F910L|CR1_ENST00000367051.1_Missense_Mutation_p.F910L|CR1_ENST00000400960.2_Missense_Mutation_p.F910L|CR1_ENST00000367052.1_Intron NM_000651.4 NP_000642.3 P17927 CR1_HUMAN complement component (3b/4b) receptor 1 (Knops blood group) 910 Sushi 21. complement activation, classical pathway|innate immune response integral to plasma membrane complement receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 82 AGGGACGAGCTTCGACCTCAT 0.532000 46 98 0 0 1 0 0 LGALS1 3956 broad.mit.edu 37 22 38075664 38075664 + Missense_Mutation SNP G G A TCGA-RY-A83Z-01A-11D-A36O-08 TCGA-RY-A83Z-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx d271a752-7ca6-4aba-8228-ef9170578a6d dc098538-0bed-4cdf-8129-95b37d2fb1a2 g.chr22:38075664G>A ENST00000215909.5 + 4 411 c.316G>A c.(316-318)Gaa>Aaa p.E106K LGALS1_ENST00000489315.1_3'UTR NM_002305.3 NP_002296.1 P09382 LEG1_HUMAN lectin, galactoside-binding, soluble, 1 106 Galectin. apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of apoptosis cytoplasm|extracellular space|proteinaceous extracellular matrix galactoside binding|signal transducer activity p.E106K(1) endometrium(1)|large_intestine(1)|lung(1) 3 Melanoma(58;0.0574) AGATGGATACGAATTCAAGTT 0.567000 28 30 0 0 1 0 0 MAGEA4 4103 broad.mit.edu 37 X 151092299 151092299 + Missense_Mutation SNP C C T TCGA-RY-A83Z-01A-11D-A36O-08 TCGA-RY-A83Z-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx d271a752-7ca6-4aba-8228-ef9170578a6d dc098538-0bed-4cdf-8129-95b37d2fb1a2 g.chrX:151092299C>T ENST00000370335.1 + 3 430 c.163C>T c.(163-165)Cct>Tct p.P55S MAGEA4_ENST00000276344.2_Missense_Mutation_p.P55S|MAGEA4_ENST00000393920.1_Missense_Mutation_p.P55S|MAGEA4_ENST00000370340.3_Missense_Mutation_p.P55S|MAGEA4_ENST00000393921.1_Missense_Mutation_p.P55S|MAGEA4_ENST00000360243.2_Missense_Mutation_p.P55S|MAGEA4_ENST00000370337.4_Missense_Mutation_p.P55S P43358 MAGA4_HUMAN melanoma antigen family A, 4 55 protein binding breast(2)|central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(2) 27 Acute lymphoblastic leukemia(192;6.56e-05) GGAGGAAGTGCCTGCTGCTGA 0.627000 25 58 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7578406 7578406 + Missense_Mutation SNP C C T rs28934578 TCGA-RY-A83Z-01A-11D-A36O-08 TCGA-RY-A83Z-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx d271a752-7ca6-4aba-8228-ef9170578a6d dc098538-0bed-4cdf-8129-95b37d2fb1a2 g.chr17:7578406C>T ENST00000420246.2 - 5 656 c.524G>A c.(523-525)cGc>cAc p.R175H TP53_ENST00000574684.1_5'UTR|TP53_ENST00000359597.4_Missense_Mutation_p.R175H|TP53_ENST00000413465.2_Missense_Mutation_p.R175H|TP53_ENST00000445888.2_Missense_Mutation_p.R175H|TP53_ENST00000269305.4_Missense_Mutation_p.R175H|TP53_ENST00000455263.2_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) 58 8 0 0 1 0 0 USP24 23358 broad.mit.edu 37 1 55561033 55561033 + Missense_Mutation SNP T T G TCGA-RY-A83Z-01A-11D-A36O-08 TCGA-RY-A83Z-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx d271a752-7ca6-4aba-8228-ef9170578a6d dc098538-0bed-4cdf-8129-95b37d2fb1a2 g.chr1:55561033T>G ENST00000294383.6 - 51 6097 c.6098A>C c.(6097-6099)aAt>aCt p.N2033T USP24_ENST00000407756.1_Missense_Mutation_p.N1873T NM_015306.2 NP_056121.2 Q9UPU5 UBP24_HUMAN ubiquitin specific peptidase 24 2033 ubiquitin-dependent protein catabolic process binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 60 CATATAGGCATTCCAGTATCT 0.403000 8 11 0 0 1 0 0 APOL3 80833 broad.mit.edu 37 22 36537770 36537770 + Silent SNP C C T rs146525352 byFrequency TCGA-RY-A83Z-01A-11D-A36O-08 TCGA-RY-A83Z-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx d271a752-7ca6-4aba-8228-ef9170578a6d dc098538-0bed-4cdf-8129-95b37d2fb1a2 g.chr22:36537770C>T ENST00000424878.2 - 4 2235 c.87G>A c.(85-87)gcG>gcA p.A29A APOL3_ENST00000397287.2_Silent_p.A29A|APOL3_ENST00000361710.2_Silent_p.A29A|APOL3_ENST00000397293.2_Silent_p.A158A|APOL3_ENST00000349314.2_Silent_p.A229A|APOL3_ENST00000487423.1_5'UTR O95236 APOL3_HUMAN apolipoprotein L, 3 229 inflammatory response|lipoprotein metabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade cytoplasm|extracellular region lipid binding|lipid transporter activity|signal transducer activity endometrium(2)|large_intestine(1)|lung(1)|stomach(1) 5 TCACAGCAGACGCTGCTCCCA 0.567000 15 20 0 0 1 0 0 TIMELESS 8914 broad.mit.edu 37 12 56811559 56811559 + Missense_Mutation SNP C C T TCGA-RY-A83Z-01A-11D-A36O-08 TCGA-RY-A83Z-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx d271a752-7ca6-4aba-8228-ef9170578a6d dc098538-0bed-4cdf-8129-95b37d2fb1a2 g.chr12:56811559C>T ENST00000229201.4 - 29 3719 c.3565G>A c.(3565-3567)Gga>Aga p.G1189R TIMELESS_ENST00000554616.1_Missense_Mutation_p.G687R|TIMELESS_ENST00000553532.1_Missense_Mutation_p.G1190R NM_003920.3 NP_003911.2 Q9UNS1 TIM_HUMAN timeless circadian clock 1190 cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent nuclear chromatin NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1) 49 CCTGGAGCTCCCAACTCTGGT 0.453000 33 37 0 0 1 0 0 CXorf22 170063 broad.mit.edu 37 X 35959495 35959495 + Missense_Mutation SNP C C G TCGA-RY-A83Z-01A-11D-A36O-08 TCGA-RY-A83Z-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx d271a752-7ca6-4aba-8228-ef9170578a6d dc098538-0bed-4cdf-8129-95b37d2fb1a2 g.chrX:35959495C>G ENST00000297866.5 + 3 563 c.497C>G c.(496-498)aCt>aGt p.T166S NM_152632.3 NP_689845.2 Q6ZTR5 CX022_HUMAN chromosome X open reading frame 22 166 breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3) 44 ATTACTATCACTAACCATGGC 0.333000 12 31 0 0 1 0 0 TRIOBP 11078 broad.mit.edu 37 22 38121461 38121461 + Silent SNP C C T TCGA-RY-A83Z-01A-11D-A36O-08 TCGA-RY-A83Z-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx d271a752-7ca6-4aba-8228-ef9170578a6d dc098538-0bed-4cdf-8129-95b37d2fb1a2 g.chr22:38121461C>T ENST00000406386.3 + 7 3153 c.2898C>T c.(2896-2898)ggC>ggT p.G966G RP1-37E16.12_ENST00000455236.1_RNA NM_001039141.2 NP_001034230.1 Q9H2D6 TARA_HUMAN TRIO and F-actin binding protein 966 actin modification|barbed-end actin filament capping actin cytoskeleton|cytoplasm|nucleus actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 12 Melanoma(58;0.0574) CCTCCTTTGGCCCCACCCAGT 0.647000 4 174 0 0 1 0 0 MAGEA4 4103 broad.mit.edu 37 X 151092272 151092272 + Missense_Mutation SNP C C G TCGA-RY-A83Z-01A-11D-A36O-08 TCGA-RY-A83Z-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx d271a752-7ca6-4aba-8228-ef9170578a6d dc098538-0bed-4cdf-8129-95b37d2fb1a2 g.chrX:151092272C>G ENST00000370335.1 + 3 403 c.136C>G c.(136-138)Ctg>Gtg p.L46V MAGEA4_ENST00000276344.2_Missense_Mutation_p.L46V|MAGEA4_ENST00000393920.1_Missense_Mutation_p.L46V|MAGEA4_ENST00000370340.3_Missense_Mutation_p.L46V|MAGEA4_ENST00000393921.1_Missense_Mutation_p.L46V|MAGEA4_ENST00000360243.2_Missense_Mutation_p.L46V|MAGEA4_ENST00000370337.4_Missense_Mutation_p.L46V P43358 MAGA4_HUMAN melanoma antigen family A, 4 46 protein binding breast(2)|central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(2) 27 Acute lymphoblastic leukemia(192;6.56e-05) CTCCTCTCCTCTGGTCCCTGG 0.627000 31 51 0 0 1 0 0 MLLT3 4300 broad.mit.edu 37 9 20414346 20414346 + Silent SNP G G A TCGA-RY-A83Z-01A-11D-A36O-08 TCGA-RY-A83Z-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx d271a752-7ca6-4aba-8228-ef9170578a6d dc098538-0bed-4cdf-8129-95b37d2fb1a2 g.chr9:20414346G>A ENST00000380338.4 - 5 784 c.498C>T c.(496-498)agC>agT p.S166S MLLT3_ENST00000429426.2_Silent_p.S163S|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 166 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.S166S(4) central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7) 66 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) tgctgctactgctgctgctgc 0.527000 T MLL ALL 4 42 0 0 1 0 0 UGT2B7 7364 broad.mit.edu 37 4 69962277 69962277 + Silent SNP A A G TCGA-RY-A83Z-01A-11D-A36O-08 TCGA-RY-A83Z-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx d271a752-7ca6-4aba-8228-ef9170578a6d dc098538-0bed-4cdf-8129-95b37d2fb1a2 g.chr4:69962277A>G ENST00000305231.7 + 1 85 c.39A>G c.(37-39)caA>caG p.Q13Q UGT2B7_ENST00000508661.1_Silent_p.Q13Q|UGT2B7_ENST00000509763.1_Intron NM_001074.2 NP_001065.2 P16662 UD2B7_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B7 13 lipid metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 TGCTAATACAACTGAGCTTTT 0.413000 4 106 0 0 1 0 0 XKR9 389668 broad.mit.edu 37 8 71619293 71619293 + Missense_Mutation SNP T T A TCGA-RY-A83Z-01A-11D-A36O-08 TCGA-RY-A83Z-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx d271a752-7ca6-4aba-8228-ef9170578a6d dc098538-0bed-4cdf-8129-95b37d2fb1a2 g.chr8:71619293T>A ENST00000408926.3 + 4 932 c.398T>A c.(397-399)aTg>aAg p.M133K XKR9_ENST00000520030.1_Missense_Mutation_p.M133K|XKR9_ENST00000520273.1_3'UTR NM_001011720.1 NP_001011720.1 Q5GH70 XKR9_HUMAN XK, Kell blood group complex subunit-related family, member 9 133 integral to membrane breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(4)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 19 Breast(64;0.0716) Epithelial(68;0.00301)|all cancers(69;0.0165)|OV - Ovarian serous cystadenocarcinoma(28;0.0524)|BRCA - Breast invasive adenocarcinoma(89;0.166) GATTTGAGCATGCTCAGACTA 0.388000 37 64 0 0 1 0 0 PAQR8 85315 broad.mit.edu 37 6 52268814 52268814 + Missense_Mutation SNP A A G TCGA-RY-A83Z-01A-11D-A36O-08 TCGA-RY-A83Z-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx d271a752-7ca6-4aba-8228-ef9170578a6d dc098538-0bed-4cdf-8129-95b37d2fb1a2 g.chr6:52268814A>G ENST00000442253.2 + 2 977 c.803A>G c.(802-804)gAg>gGg p.E268G PAQR8_ENST00000360726.3_Missense_Mutation_p.E268G NM_133367.4 NP_588608.1 Q8TEZ7 MPRB_HUMAN progestin and adipoQ receptor family member VIII 268 cell differentiation|multicellular organismal development|oogenesis integral to membrane|plasma membrane receptor activity|steroid binding endometrium(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|urinary_tract(2) 17 Lung NSC(77;0.0875) CCCGTGCCTGAGAAGTACTTC 0.572000 37 39 0 0 1 0 0 RC3H2 54542 broad.mit.edu 37 9 125639774 125639774 + Missense_Mutation SNP G G A TCGA-RY-A83Z-01A-11D-A36O-08 TCGA-RY-A83Z-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx d271a752-7ca6-4aba-8228-ef9170578a6d dc098538-0bed-4cdf-8129-95b37d2fb1a2 g.chr9:125639774G>A ENST00000373670.1 - 8 1901 c.1301C>T c.(1300-1302)gCc>gTc p.A434V RC3H2_ENST00000423239.2_Missense_Mutation_p.A434V|RC3H2_ENST00000373665.2_Missense_Mutation_p.A434V|RC3H2_ENST00000357244.2_Missense_Mutation_p.A434V|RC3H2_ENST00000335387.5_Missense_Mutation_p.A434V Q9HBD1 RC3H2_HUMAN ring finger and CCCH-type domains 2 434 cell surface|endomembrane system|membrane|membrane fraction|perinuclear region of cytoplasm DNA binding|zinc ion binding breast(3)|central_nervous_system(1)|endometrium(6)|large_intestine(4)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 33 CTGAGAATGGGCAAATGTACA 0.393000 4 211 0 0 1 0 0 BCL9 607 broad.mit.edu 37 1 147091170 147091170 + Missense_Mutation SNP A A C TCGA-RY-A83Z-01A-11D-A36O-08 TCGA-RY-A83Z-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx d271a752-7ca6-4aba-8228-ef9170578a6d dc098538-0bed-4cdf-8129-95b37d2fb1a2 g.chr1:147091170A>C ENST00000234739.3 + 8 1949 c.1209A>C c.(1207-1209)gaA>gaC p.E403D NM_004326.2 NP_004317.2 O00512 BCL9_HUMAN B-cell CLL/lymphoma 9 403 Pro-rich. Wnt receptor signaling pathway nucleus protein binding breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 7 all_hematologic(923;0.115) AAAAACCAGAAGGGCCAATAC 0.542000 T """IGH@, IGL@""" B-ALL 31 51 0 0 1 0 0 FAT2 2196 broad.mit.edu 37 5 150885459 150885459 + Silent SNP G G A TCGA-RY-A83Z-01A-11D-A36O-08 TCGA-RY-A83Z-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx d271a752-7ca6-4aba-8228-ef9170578a6d dc098538-0bed-4cdf-8129-95b37d2fb1a2 g.chr5:150885459G>A ENST00000261800.5 - 23 12729 c.12717C>T c.(12715-12717)ctC>ctT p.L4239L NM_001447.2 NP_001438.1 Q9NYQ8 FAT2_HUMAN FAT atypical cadherin 2 4239 epithelial cell migration|homophilic cell adhesion cell-cell adherens junction|integral to membrane|nucleus calcium ion binding NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1) 196 Medulloblastoma(196;0.0912)|all_hematologic(541;0.104) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) AACGGGGTGGGAGAGGTGCCC 0.627000 4 111 0 0 1 0 0 ATP6AP1 537 broad.mit.edu 37 X 153664056 153664056 + Missense_Mutation SNP A A T TCGA-RY-A83Z-01A-11D-A36O-08 TCGA-RY-A83Z-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx d271a752-7ca6-4aba-8228-ef9170578a6d dc098538-0bed-4cdf-8129-95b37d2fb1a2 g.chrX:153664056A>T ENST00000369762.2 + 10 1293 c.1232A>T c.(1231-1233)cAg>cTg p.Q411L NM_001183.4 NP_001174.2 Q15904 VAS1_HUMAN ATPase, H+ transporting, lysosomal accessory protein 1 411 ATP hydrolysis coupled proton transport integral to membrane|proton-transporting V-type ATPase, V1 domain|vacuolar membrane ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(5) 14 all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) ATGGGGGAGCAGTTCTCCTAC 0.597000 77 95 0 0 1 0 0 XYLT2 64132 broad.mit.edu 37 17 48432928 48432928 + Silent SNP C C T TCGA-RY-A83Z-01A-11D-A36O-08 TCGA-RY-A83Z-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx d271a752-7ca6-4aba-8228-ef9170578a6d dc098538-0bed-4cdf-8129-95b37d2fb1a2 g.chr17:48432928C>T ENST00000017003.2 + 5 1123 c.1074C>T c.(1072-1074)ggC>ggT p.G358G XYLT2_ENST00000507602.1_Silent_p.G358G NM_022167.2 NP_071450.2 Q9H1B5 XYLT2_HUMAN xylosyltransferase II 358 glycosaminoglycan biosynthetic process endoplasmic reticulum membrane|Golgi membrane|integral to membrane acetylglucosaminyltransferase activity|protein xylosyltransferase activity endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(2)|urinary_tract(1) 12 Breast(11;7.18e-19) AGTCACATGGCCGGGACAACT 0.612000 4 94 0 0 1 0 0 KMT2C 58508 broad.mit.edu 37 7 151848014 151848014 + Missense_Mutation SNP T T C TCGA-RY-A83Z-01A-11D-A36O-08 TCGA-RY-A83Z-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx d271a752-7ca6-4aba-8228-ef9170578a6d dc098538-0bed-4cdf-8129-95b37d2fb1a2 g.chr7:151848014T>C ENST00000355193.2 - 52 13134 c.12916A>G c.(12916-12918)Act>Gct p.T4306A KMT2C_ENST00000262189.6_Missense_Mutation_p.T4249A lysine (K)-specific methyltransferase 2C GCTTGTGCAGTTGATGAATAA 0.398000 33 30 0 0 1 0 0 DNAJA1 3301 broad.mit.edu 37 9 33037066 33037066 + Missense_Mutation SNP A A G rs144405670 TCGA-RY-A83Z-01A-11D-A36O-08 TCGA-RY-A83Z-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx d271a752-7ca6-4aba-8228-ef9170578a6d dc098538-0bed-4cdf-8129-95b37d2fb1a2 g.chr9:33037066A>G ENST00000330899.4 + 8 1111 c.928A>G c.(928-930)Att>Gtt p.I310V DNAJA1_ENST00000544625.1_Missense_Mutation_p.I153V|DNAJA1_ENST00000495015.1_3'UTR NM_001539.2 NP_001530.1 P31689 DNJA1_HUMAN DnaJ (Hsp40) homolog, subfamily A, member 1 310 protein folding|response to heat|response to unfolded protein membrane ATP binding|heat shock protein binding|low-density lipoprotein particle receptor binding|metal ion binding|unfolded protein binding large_intestine(2)|ovary(1)|skin(3) 6 LUSC - Lung squamous cell carcinoma(29;0.0227) GBM - Glioblastoma multiforme(74;0.102) AGGCATGCCAATTTATCGTAG 0.348000 28 4 0 0 1 0 0 SH3TC1 54436 broad.mit.edu 37 4 8228808 8228808 + Missense_Mutation SNP C C T TCGA-RY-A83Z-01A-11D-A36O-08 TCGA-RY-A83Z-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx d271a752-7ca6-4aba-8228-ef9170578a6d dc098538-0bed-4cdf-8129-95b37d2fb1a2 g.chr4:8228808C>T ENST00000539824.1 + 12 1533 c.1159C>T c.(1159-1161)Cca>Tca p.P387S SH3TC1_ENST00000514274.1_3'UTR|SH3TC1_ENST00000245105.3_Missense_Mutation_p.P463S Q8TE82 S3TC1_HUMAN SH3 domain and tetratricopeptide repeats 1 463 binding NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 33 CCCCCAGGAGCCAGCGTCCTG 0.617000 15 27 0 0 1 0 0 OR1G1 8390 broad.mit.edu 37 17 3030555 3030555 + Missense_Mutation SNP A A C TCGA-RY-A83Z-01A-11D-A36O-08 TCGA-RY-A83Z-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx d271a752-7ca6-4aba-8228-ef9170578a6d dc098538-0bed-4cdf-8129-95b37d2fb1a2 g.chr17:3030555A>C ENST00000328890.2 - 1 320 c.291T>G c.(289-291)tgT>tgG p.C97W NM_003555.1 NP_003546.1 P47890 OR1G1_HUMAN olfactory receptor, family 1, subfamily G, member 1 97 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(1)|large_intestine(4)|lung(3)|skin(3) 11 ACTGTAGTAGACACCCTGAGT 0.502000 31 43 0 0 1 0 0 PLEKHS1 79949 broad.mit.edu 37 10 115529577 115529577 + Missense_Mutation SNP T T A TCGA-RY-A83Z-01A-11D-A36O-08 TCGA-RY-A83Z-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx d271a752-7ca6-4aba-8228-ef9170578a6d dc098538-0bed-4cdf-8129-95b37d2fb1a2 g.chr10:115529577T>A ENST00000361048.1 + 7 797 c.470T>A c.(469-471)tTc>tAc p.F157Y PLEKHS1_ENST00000369312.4_Missense_Mutation_p.F69Y|PLEKHS1_ENST00000369310.3_Missense_Mutation_p.F151Y NM_024889.4 NP_079165.3 pleckstrin homology domain containing, family S member 1 AGAACCCTCTTCTACTCCAGC 0.502000 47 24 0 0 1 0 0 IDH1 3417 broad.mit.edu 37 2 209113112 209113112 + Missense_Mutation SNP C C T rs121913500 TCGA-RY-A83Z-01A-11D-A36O-08 TCGA-RY-A83Z-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx d271a752-7ca6-4aba-8228-ef9170578a6d dc098538-0bed-4cdf-8129-95b37d2fb1a2 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 35 61 0 0 1 0 0 IL31RA 133396 broad.mit.edu 37 5 55212675 55212675 + Silent SNP C C T rs140132589 byFrequency TCGA-RY-A83Z-01A-11D-A36O-08 TCGA-RY-A83Z-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx d271a752-7ca6-4aba-8228-ef9170578a6d dc098538-0bed-4cdf-8129-95b37d2fb1a2 g.chr5:55212675C>T ENST00000447346.2 + 15 2087 c.2022C>T c.(2020-2022)tgC>tgT p.C674C IL31RA_ENST00000354961.4_Intron|IL31RA_ENST00000359040.5_Intron|IL31RA_ENST00000396834.1_Intron|IL31RA_ENST00000490985.1_Silent_p.C532C NM_001242636.1|NM_139017.5 NP_001229565.1|NP_620586.3 Q8NI17 IL31R_HUMAN interleukin 31 receptor A 642 anti-apoptosis|defense response|homeostatic process|JAK-STAT cascade|macrophage differentiation|MAPKKK cascade|monocyte differentiation|negative regulation of macrophage activation|positive regulation of cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|transmembrane receptor protein tyrosine kinase signaling pathway integral to membrane|plasma membrane cytokine receptor activity|protein kinase binding|transcription coactivator activity endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|stomach(1) 21 Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223) ATGTGACCTGCCCCTTCAGGC 0.483000 18 24 0 0 1 0 0 FSIP2 401024 broad.mit.edu 37 2 186670584 186670584 + Silent SNP A A G TCGA-RY-A83Z-01A-11D-A36O-08 TCGA-RY-A83Z-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx d271a752-7ca6-4aba-8228-ef9170578a6d dc098538-0bed-4cdf-8129-95b37d2fb1a2 g.chr2:186670584A>G ENST00000343098.5 + 17 16818 c.16818A>G c.(16816-16818)aaA>aaG p.K5606K FSIP2_ENST00000424728.1_Silent_p.K5517K NM_173651.2 NP_775922.2 fibrous sheath interacting protein 2 NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2) 69 TGACAAATAAAAAGGAAGTGG 0.348000 26 38 0 0 1 0 0 ZXDA 7789 broad.mit.edu 37 X 57936020 57936020 + Missense_Mutation SNP C C T TCGA-RY-A83Z-01A-11D-A36O-08 TCGA-RY-A83Z-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx d271a752-7ca6-4aba-8228-ef9170578a6d dc098538-0bed-4cdf-8129-95b37d2fb1a2 g.chrX:57936020C>T ENST00000358697.4 - 1 1047 c.835G>A c.(835-837)Gcc>Acc p.A279T NM_007156.4 NP_009087.1 P98168 ZXDA_HUMAN zinc finger, X-linked, duplicated A 279 Required for interaction with ZXDC. positive regulation of transcription, DNA-dependent nucleus C2H2 zinc finger domain binding|identical protein binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|prostate(2)|skin(1) 37 TGCTTCTTGGCGAAGGTTTGC 0.697000 9 4 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179437479 179437479 + Silent SNP C C G TCGA-RY-A83Z-01A-11D-A36O-08 TCGA-RY-A83Z-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx d271a752-7ca6-4aba-8228-ef9170578a6d dc098538-0bed-4cdf-8129-95b37d2fb1a2 g.chr2:179437479C>G ENST00000589042.1 - 326 73604 c.73380G>C c.(73378-73380)gtG>gtC p.V24460V TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Silent_p.V15395V|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Silent_p.V22819V|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Silent_p.V21892V|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000342175.6_Silent_p.V15587V|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000359218.5_Silent_p.V15520V|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 22819 Fibronectin type-III 78. 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) GGGCCCACTTCACCTCAGGTG 0.463000 5 88 0 0 1 0 0 ZXDA 7789 broad.mit.edu 37 X 57935760 57935760 + Silent SNP G G A TCGA-RY-A83Z-01A-11D-A36O-08 TCGA-RY-A83Z-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx d271a752-7ca6-4aba-8228-ef9170578a6d dc098538-0bed-4cdf-8129-95b37d2fb1a2 g.chrX:57935760G>A ENST00000358697.4 - 1 1307 c.1095C>T c.(1093-1095)tgC>tgT p.C365C NM_007156.4 NP_009087.1 P98168 ZXDA_HUMAN zinc finger, X-linked, duplicated A 365 Required for interaction with ZXDC. positive regulation of transcription, DNA-dependent nucleus C2H2 zinc finger domain binding|identical protein binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|prostate(2)|skin(1) 37 AGCTCTCCTCGCACACCTCAC 0.607000 33 41 0 0 1 0 0 GPR112 139378 broad.mit.edu 37 X 135426598 135426598 + Nonsense_Mutation SNP C C T TCGA-RY-A83Z-01A-11D-A36O-08 TCGA-RY-A83Z-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx d271a752-7ca6-4aba-8228-ef9170578a6d dc098538-0bed-4cdf-8129-95b37d2fb1a2 g.chrX:135426598C>T ENST00000394143.1 + 6 1024 c.733C>T c.(733-735)Caa>Taa p.Q245* GPR112_ENST00000370652.1_Nonsense_Mutation_p.Q245*|GPR112_ENST00000287534.4_Nonsense_Mutation_p.Q182*|GPR112_ENST00000412101.1_Nonsense_Mutation_p.Q40*|GPR112_ENST00000394141.1_Nonsense_Mutation_p.Q40* NM_153834.3 NP_722576.3 Q8IZF6 GP112_HUMAN G protein-coupled receptor 112 245 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2) 199 Acute lymphoblastic leukemia(192;0.000127) AACTGTTTCACAACAGATAGA 0.328000 25 48 0 0 1 0 0 SUN3 256979 broad.mit.edu 37 7 48068665 48068665 + Translation_Start_Site SNP C C T TCGA-RY-A83Z-01A-11D-A36O-08 TCGA-RY-A83Z-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx d271a752-7ca6-4aba-8228-ef9170578a6d dc098538-0bed-4cdf-8129-95b37d2fb1a2 g.chr7:48068665C>T ENST00000297325.4 - 0 30 SUN3_ENST00000395572.2_De_novo_Start_OutOfFrame|SUN3_ENST00000412142.1_De_novo_Start_OutOfFrame NM_001030019.1 NP_001025190.1 Q8TAQ9 SUN3_HUMAN Sad1 and UNC84 domain containing 3 integral to membrane central_nervous_system(1)|endometrium(3)|large_intestine(8)|liver(1)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 TCTTCCTCCACGGGTGTTTCT 0.398000 6 4 0 0 1 0 0 MAP3K15 389840 broad.mit.edu 37 X 19378946 19378946 + Missense_Mutation SNP C C A TCGA-RY-A83Z-01A-11D-A36O-08 TCGA-RY-A83Z-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx d271a752-7ca6-4aba-8228-ef9170578a6d dc098538-0bed-4cdf-8129-95b37d2fb1a2 g.chrX:19378946C>A ENST00000338883.4 - 29 3862 c.3863G>T c.(3862-3864)gGt>gTt p.G1288V PDHA1_ENST00000422285.2_3'UTR|PDHA1_ENST00000379806.5_3'UTR|MAP3K15_ENST00000518578.1_5'UTR|PDHA1_ENST00000545074.1_3'UTR|MAP3K15_ENST00000469203.2_Missense_Mutation_p.G1120V|MAP3K15_ENST00000359173.3_Missense_Mutation_p.G723V|PDHA1_ENST00000540249.1_3'UTR NM_001001671.3 NP_001001671.3 Q6ZN16 M3K15_HUMAN mitogen-activated protein kinase kinase kinase 15 1288 ATP binding|MAP kinase kinase kinase activity|metal ion binding NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 42 Hepatocellular(33;0.183) GCAGAGGAGACCACCCCTGGG 0.473000 16 24 1.15088e-07 1.19572e-07 1 1 0 SLC7A10 56301 broad.mit.edu 37 19 33699847 33699847 + Missense_Mutation SNP A A G TCGA-RY-A83Z-01A-11D-A36O-08 TCGA-RY-A83Z-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx d271a752-7ca6-4aba-8228-ef9170578a6d dc098538-0bed-4cdf-8129-95b37d2fb1a2 g.chr19:33699847A>G ENST00000253188.3 - 11 1668 c.1522T>C c.(1522-1524)Tgc>Cgc p.C508R NM_019849.2 NP_062823.1 Q9NS82 AAA1_HUMAN solute carrier family 7 (neutral amino acid transporter light chain, asc system), member 10 508 blood coagulation|cellular nitrogen compound metabolic process|ion transport|leukocyte migration integral to plasma membrane L-serine transmembrane transporter activity central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1) 18 Esophageal squamous(110;0.137) GAGGGTGGGCAGGGGCCATTC 0.547000 4 14 0 0 1 0 0 KRT8 3856 broad.mit.edu 37 12 53292607 53292607 + Missense_Mutation SNP A A G TCGA-RY-A83Z-01A-11D-A36O-08 TCGA-RY-A83Z-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx d271a752-7ca6-4aba-8228-ef9170578a6d dc098538-0bed-4cdf-8129-95b37d2fb1a2 g.chr12:53292607A>G ENST00000552551.1 - 7 1490 c.1058T>C c.(1057-1059)tTg>tCg p.L353S KRT8_ENST00000546897.1_Missense_Mutation_p.L353S|KRT8_ENST00000293308.6_Missense_Mutation_p.L353S|KRT8_ENST00000552150.1_Missense_Mutation_p.L381S P05787 K2C8_HUMAN keratin 8 353 Coil 2.|Necessary for interaction with PNN.|Rod. cytoskeleton organization|interspecies interaction between organisms cytoplasm|keratin filament|nuclear matrix|nucleoplasm protein binding|structural molecule activity endometrium(5)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1) 13 BRCA - Breast invasive adenocarcinoma(357;0.108) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) CAGCTCGGACAACTTGGCGTT 0.637000 4 76 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179400060 179400060 + Missense_Mutation SNP C C T TCGA-RY-A83Z-01A-11D-A36O-08 TCGA-RY-A83Z-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx d271a752-7ca6-4aba-8228-ef9170578a6d dc098538-0bed-4cdf-8129-95b37d2fb1a2 g.chr2:179400060C>T ENST00000589042.1 - 358 101506 c.101282G>A c.(101281-101283)cGg>cAg p.R33761Q TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R24696Q|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R32120Q|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R31193Q|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R24888Q|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R24821Q|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000590040.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 32120 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.R31191L(1)|p.R24696L(1)|p.R31193L(1)|p.R24821L(1)|p.R24888L(1) 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) AGCTATTACCCGGAACTGGTA 0.418000 6 138 0 0 1 0 0 TES 26136 broad.mit.edu 37 7 115891827 115891827 + Missense_Mutation SNP G G A TCGA-RY-A83Z-01A-11D-A36O-08 TCGA-RY-A83Z-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx d271a752-7ca6-4aba-8228-ef9170578a6d dc098538-0bed-4cdf-8129-95b37d2fb1a2 g.chr7:115891827G>A ENST00000358204.4 + 5 931 c.716G>A c.(715-717)tGc>tAc p.C239Y TES_ENST00000393481.2_Missense_Mutation_p.C230Y|AC002066.1_ENST00000446355.2_RNA|AC073130.3_ENST00000444244.1_RNA|TES_ENST00000537767.1_5'UTR NM_015641.3 NP_056456.1 Q9UGI8 TES_HUMAN testis derived transcript (3 LIM domains) 239 LIM zinc-binding 1. negative regulation of cell proliferation cytoplasm|focal adhesion|nucleus|protein complex zinc ion binding endometrium(4)|large_intestine(4)|lung(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 12 Lung NSC(10;0.0137)|all_lung(10;0.0148) Breast(660;0.0602) STAD - Stomach adenocarcinoma(10;0.00878) TGCTATTGCTGCAAACTGAGT 0.438000 4 123 0 0 1 0 0 GPR139 124274 broad.mit.edu 37 16 20043306 20043306 + Silent SNP G G A TCGA-RY-A83Z-01A-11D-A36O-08 TCGA-RY-A83Z-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx d271a752-7ca6-4aba-8228-ef9170578a6d dc098538-0bed-4cdf-8129-95b37d2fb1a2 g.chr16:20043306G>A ENST00000570682.1 - 2 1113 c.813C>T c.(811-813)aaC>aaT p.N271N NM_001002911.2 NP_001002911.1 Q6DWJ6 GP139_HUMAN G protein-coupled receptor 139 271 integral to membrane|plasma membrane autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 30 GGGCTAGCATGTTGGCAATGT 0.552000 29 44 0 0 1 0 0 C4A 720 broad.mit.edu 37 6 31963505 31963505 + Missense_Mutation SNP G G A rs143990092 TCGA-RY-A83Z-01A-11D-A36O-08 TCGA-RY-A83Z-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx d271a752-7ca6-4aba-8228-ef9170578a6d dc098538-0bed-4cdf-8129-95b37d2fb1a2 g.chr6:31963505G>A ENST00000428956.2 + 25 3248 c.3164G>A c.(3163-3165)cGg>cAg p.R1055Q C4A_ENST00000498271.1_Missense_Mutation_p.R1055Q NM_007293.2 NP_009224.2 complement component 4A (Rodgers blood group) GGCTACATGCGGATCCAGCAG 0.607000 5 66 0 0 1 0 0 SNHG14 0 broad.mit.edu 37 15 25467402 25467402 + RNA SNP C C A TCGA-RY-A83Z-01A-11D-A36O-08 TCGA-RY-A83Z-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx d271a752-7ca6-4aba-8228-ef9170578a6d dc098538-0bed-4cdf-8129-95b37d2fb1a2 g.chr15:25467402C>A ENST00000424208.1 + 0 3136 SNHG14_ENST00000453082.2_RNA NR_003305.1 AAGCTCAGACCCTTCCTGGTT 0.607000 26 32 1.64293e-13 1.75246e-13 1 1 0 AGBL1 123624 broad.mit.edu 37 15 86940603 86940603 + Missense_Mutation SNP G G A TCGA-RY-A83Z-01A-11D-A36O-08 TCGA-RY-A83Z-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx d271a752-7ca6-4aba-8228-ef9170578a6d dc098538-0bed-4cdf-8129-95b37d2fb1a2 g.chr15:86940603G>A ENST00000441037.2 + 17 2338 c.2243G>A c.(2242-2244)cGt>cAt p.R748H AGBL1_ENST00000421325.2_Missense_Mutation_p.R748H|AGBL1_ENST00000389298.3_Missense_Mutation_p.R479H NM_152336.2 NP_689549.2 Q96MI9 CBPC4_HUMAN ATP/GTP binding protein-like 1 748 C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis cytosol metallocarboxypeptidase activity|tubulin binding|zinc ion binding NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 62 GCAGGACATCGTCCATATCAG 0.403000 3 23 0 0 1 0 0 CGB8 94115 broad.mit.edu 37 19 49552213 49552213 + Translation_Start_Site SNP C C T TCGA-RY-A83Z-01A-11D-A36O-08 TCGA-RY-A83Z-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx d271a752-7ca6-4aba-8228-ef9170578a6d dc098538-0bed-4cdf-8129-95b37d2fb1a2 g.chr19:49552213C>T ENST00000355414.2 - 0 187 CGB8_ENST00000448456.3_De_novo_Start_OutOfFrame P01233 CGHB_HUMAN chorionic gonadotropin, beta polypeptide 8 apoptosis|cell-cell signaling|cellular nitrogen compound metabolic process|female gamete generation|hormone biosynthetic process|peptide hormone processing|signal transduction extracellular region|soluble fraction hormone activity pancreas(1) 1 all_epithelial(76;9.62e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427) Choriogonadotropin alfa(DB00097) GCGGAGACCACGGTGAAGTGA 0.642000 4 0 0 0 1 0 0 NLRP8 126205 broad.mit.edu 37 19 56466710 56466710 + Missense_Mutation SNP G G A rs150630809 byFrequency TCGA-RY-A83Z-01A-11D-A36O-08 TCGA-RY-A83Z-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx d271a752-7ca6-4aba-8228-ef9170578a6d dc098538-0bed-4cdf-8129-95b37d2fb1a2 g.chr19:56466710G>A ENST00000291971.3 + 3 1357 c.1286G>A c.(1285-1287)cGg>cAg p.R429Q NLRP8_ENST00000590542.1_Missense_Mutation_p.R429Q NM_176811.2 NP_789781.2 Q86W28 NALP8_HUMAN NLR family, pyrin domain containing 8 429 NACHT. cytoplasm ATP binding breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2) 35 Colorectal(82;0.000147)|Ovarian(87;0.17) GBM - Glioblastoma multiforme(193;0.0695) GTGTTCGTCCGGTATATTTCT 0.493000 38 12 0 0 1 0 0 LILRA2 0 broad.mit.edu 37 19 55086932 55086932 + Missense_Mutation SNP C C T TCGA-RY-A83Z-01A-11D-A36O-08 TCGA-RY-A83Z-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx d271a752-7ca6-4aba-8228-ef9170578a6d dc098538-0bed-4cdf-8129-95b37d2fb1a2 g.chr19:55086932C>T ENST00000251377.3 + 6 998 c.865C>T c.(865-867)Cac>Tac p.H289Y LILRB1_ENST00000396321.2_Intron|LILRB1_ENST00000418536.2_Intron|LILRA2_ENST00000391737.1_Missense_Mutation_p.H277Y|LILRB1_ENST00000448689.1_Intron|LILRA2_ENST00000251376.3_Missense_Mutation_p.H289Y|LILRA2_ENST00000391738.3_Missense_Mutation_p.H289Y leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2 p.H289Y(1) breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 50 GBM - Glioblastoma multiforme(193;0.0963) GAGCCCCTCCCACGGGGGCCA 0.647000 3 49 0 0 1 0 0 RBX1 9978 broad.mit.edu 37 22 41347409 41347409 + Missense_Mutation SNP G G A TCGA-RY-A83Z-01A-11D-A36O-08 TCGA-RY-A83Z-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx d271a752-7ca6-4aba-8228-ef9170578a6d dc098538-0bed-4cdf-8129-95b37d2fb1a2 g.chr22:41347409G>A ENST00000216225.8 + 1 47 c.7G>A c.(7-9)Gca>Aca p.A3T XPNPEP3_ENST00000544094.1_Intron NM_014248.3 NP_055063.1 P62877 RBX1_HUMAN ring-box 1, E3 ubiquitin protein ligase 3 DNA repair|interspecies interaction between organisms|protein neddylation|protein ubiquitination|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|viral reproduction Cul3-RING ubiquitin ligase complex|Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytosol|nucleus|SCF ubiquitin ligase complex NEDD8 ligase activity|protein binding|zinc ion binding large_intestine(1)|lung(3)|skin(1) 5 CAAAATGGCGGCAGCGATGGA 0.662000 6 20 0 0 1 0 0 MYO3A 53904 broad.mit.edu 37 10 26463168 26463168 + Silent SNP T T A TCGA-RY-A83Z-01A-11D-A36O-08 TCGA-RY-A83Z-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx d271a752-7ca6-4aba-8228-ef9170578a6d dc098538-0bed-4cdf-8129-95b37d2fb1a2 g.chr10:26463168T>A ENST00000265944.5 + 30 4141 c.3975T>A c.(3973-3975)cgT>cgA p.R1325R MYO3A_ENST00000543632.1_Intron NM_017433.4 NP_059129.3 Q8NEV4 MYO3A_HUMAN myosin IIIA 1325 protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception cytoplasm|filamentous actin|filopodium|myosin complex actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 146 GCAGAGGCCGTCTGAGGCATG 0.483000 6 93 0 0 1 0 0 NADSYN1 55191 broad.mit.edu 37 11 71208529 71208529 + Splice_Site SNP G G C TCGA-RY-A83Z-01A-11D-A36O-08 TCGA-RY-A83Z-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx d271a752-7ca6-4aba-8228-ef9170578a6d dc098538-0bed-4cdf-8129-95b37d2fb1a2 g.chr11:71208529G>C ENST00000319023.2 + 19 1953 c.1764_splice c.e19-1 p.E589_splice NADSYN1_ENST00000530055.1_Splice_Site_p.E218_splice|NADSYN1_ENST00000539574.1_Splice_Site_p.E329_splice NM_018161.4 NP_060631.2 Q6IA69 NADE_HUMAN NAD synthetase 1 589 Ligase (By similarity). NAD biosynthetic process|water-soluble vitamin metabolic process cytosol ATP binding|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds|NAD+ synthase (glutamine-hydrolyzing) activity|protein binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 25 L-Glutamic Acid(DB00142)|L-Glutamine(DB00130) TTGTGCACAGGAAGATATGGG 0.517000 3 41 0 0 1 0 0 SLC17A2 10246 broad.mit.edu 37 6 25921320 25921320 + Splice_Site SNP C C A TCGA-RY-A83Z-01A-11D-A36O-08 TCGA-RY-A83Z-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx d271a752-7ca6-4aba-8228-ef9170578a6d dc098538-0bed-4cdf-8129-95b37d2fb1a2 g.chr6:25921320C>A ENST00000377850.3 - 5 1000 c.474_splice c.e5-1 p.G159_splice SLC17A2_ENST00000360488.3_Splice_Site_p.G159_splice|SLC17A2_ENST00000265425.3_Splice_Site_p.G159_splice O00624 NPT3_HUMAN solute carrier family 17, member 2 159 phosphate metabolic process integral to plasma membrane|membrane fraction sodium:phosphate symporter activity endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 31 CCATGCCATTCCCTGAAATGA 0.448000 16 22 6.72482e-11 7.07876e-11 1 1 0 FANCD2 2177 broad.mit.edu 37 3 10134979 10134979 + Missense_Mutation SNP G G A TCGA-RY-A83Z-01A-11D-A36O-08 TCGA-RY-A83Z-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx d271a752-7ca6-4aba-8228-ef9170578a6d dc098538-0bed-4cdf-8129-95b37d2fb1a2 g.chr3:10134979G>A ENST00000287647.3 + 39 3953 c.3860G>A c.(3859-3861)aGt>aAt p.S1287N FANCD2OS_ENST00000436517.1_Intron|FANCD2_ENST00000419585.1_Missense_Mutation_p.S1287N|FANCD2_ENST00000383806.1_3'UTR|FANCD2_ENST00000383807.1_Missense_Mutation_p.S1287N|FANCD2OS_ENST00000524279.1_Intron NM_033084.3 NP_149075.2 Q9BXW9 FACD2_HUMAN Fanconi anemia, complementation group D2 1287 DNA repair|response to gamma radiation nucleoplasm protein binding p.S1287I(1) 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) GTATTTGATAGTCATCCTGTT 0.478000 """D, Mis, N, F""" """AML, leukemia""" Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 37 61 0 0 1 0 0 SETD9 133383 broad.mit.edu 37 5 56207034 56207034 + Missense_Mutation SNP T T G TCGA-RY-A83Z-01A-11D-A36O-08 TCGA-RY-A83Z-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx d271a752-7ca6-4aba-8228-ef9170578a6d dc098538-0bed-4cdf-8129-95b37d2fb1a2 g.chr5:56207034T>G ENST00000285947.2 + 2 523 c.137T>G c.(136-138)gTt>gGt p.V46G SETD9_ENST00000541720.1_Missense_Mutation_p.V46G|SETD9_ENST00000475908.1_Intron NM_153706.3 NP_714917.2 Q8NE22 CE035_HUMAN SET domain containing 9 46 AAAGACAAAGTTATCTCAGAT 0.368000 26 30 0 0 1 0 0 MALAT1 0 broad.mit.edu 37 11 65268906 65268906 + RNA SNP C C A TCGA-RY-A83Z-01A-11D-A36O-08 TCGA-RY-A83Z-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx d271a752-7ca6-4aba-8228-ef9170578a6d dc098538-0bed-4cdf-8129-95b37d2fb1a2 g.chr11:65268906C>A ENST00000534336.1 + 0 3674 NR_002819.2 GGAGAAATGGCTGGTAGTTAC 0.403000 3 17 0.004672 0.004672 1 1 0 PWWP2B 170394 broad.mit.edu 37 10 134218307 134218307 + Silent SNP A A C TCGA-RY-A83Z-01A-11D-A36O-08 TCGA-RY-A83Z-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx d271a752-7ca6-4aba-8228-ef9170578a6d dc098538-0bed-4cdf-8129-95b37d2fb1a2 g.chr10:134218307A>C ENST00000305233.5 + 2 362 c.303A>C c.(301-303)ccA>ccC p.P101P PWWP2B_ENST00000368609.4_Silent_p.P101P NM_138499.3 NP_612508.3 Q6NUJ5 PWP2B_HUMAN PWWP domain containing 2B 101 Pro-rich. p.P101P(1) central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|urinary_tract(1) 9 all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224) OV - Ovarian serous cystadenocarcinoma(35;7.49e-05)|Epithelial(32;0.00016)|all cancers(32;0.000186) GCCCCGAGCCACCCCCGCCCC 0.756000 5 4 0 0 1 0 0 CLCN4 0 broad.mit.edu 37 X 10176604 10176604 + Missense_Mutation SNP G G A TCGA-RY-A83Z-01A-11D-A36O-08 TCGA-RY-A83Z-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx d271a752-7ca6-4aba-8228-ef9170578a6d dc098538-0bed-4cdf-8129-95b37d2fb1a2 g.chrX:10176604G>A ENST00000380833.4 + 9 1754 c.1363G>A c.(1363-1365)Gtt>Att p.V455I CLCN4_ENST00000421085.2_Missense_Mutation_p.V361I|CLCN4_ENST00000380829.1_Missense_Mutation_p.V424I NM_001256944.1|NM_001830.3 NP_001243873.1|NP_001821.2 P51793 CLCN4_HUMAN chloride channel, voltage-sensitive 4 455 early endosome membrane|integral to membrane|late endosome membrane antiporter activity|ATP binding|voltage-gated chloride channel activity p.V455F(1) breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 CAAAATCGTCGTTACCATATT 0.527000 42 54 0 0 1 0 0 HERC2P3 0 broad.mit.edu 37 15 20643858 20643858 + RNA SNP T T C TCGA-RY-A83Z-01A-11D-A36O-08 TCGA-RY-A83Z-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx d271a752-7ca6-4aba-8228-ef9170578a6d dc098538-0bed-4cdf-8129-95b37d2fb1a2 g.chr15:20643858T>C ENST00000428453.1 - 0 3601 central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 35 TTTCAGCTGATTCAATGGGCA 0.468000 40 71 0 0 1 0 0 CFP 5199 broad.mit.edu 37 X 47485791 47485791 + Silent SNP G G A TCGA-RY-A83Z-01A-11D-A36O-08 TCGA-RY-A83Z-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx d271a752-7ca6-4aba-8228-ef9170578a6d dc098538-0bed-4cdf-8129-95b37d2fb1a2 g.chrX:47485791G>A ENST00000247153.3 - 8 1309 c.1068C>T c.(1066-1068)gaC>gaT p.D356D CFP_ENST00000396992.3_Silent_p.D356D|CFP_ENST00000377005.2_Silent_p.D356D NM_002621.2 NP_002612.1 P27918 PROP_HUMAN complement factor properdin 356 TSP type-1 5. complement activation, alternative pathway|defense response to bacterium extracellular space breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1) 18 ATCGATGTCCGTCAAACTTGC 0.607000 6 13 0 0 1 0 0 OR8H1 219469 broad.mit.edu 37 11 56058377 56058377 + Silent SNP C C T TCGA-RY-A83Z-01A-11D-A36O-08 TCGA-RY-A83Z-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx d271a752-7ca6-4aba-8228-ef9170578a6d dc098538-0bed-4cdf-8129-95b37d2fb1a2 g.chr11:56058377C>T ENST00000313022.2 - 1 189 c.162G>A c.(160-162)caG>caA p.Q54Q NM_001005199.1 NP_001005199.1 Q8NGG4 OR8H1_HUMAN olfactory receptor, family 8, subfamily H, member 1 54 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 Esophageal squamous(21;0.00448) GAGTGTGAAGCTGGAGGTCCA 0.413000 111 119 0 0 1 0 0 LRRC32 2615 broad.mit.edu 37 11 76372296 76372296 + Missense_Mutation SNP G G A TCGA-RY-A83Z-01A-11D-A36O-08 TCGA-RY-A83Z-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx d271a752-7ca6-4aba-8228-ef9170578a6d dc098538-0bed-4cdf-8129-95b37d2fb1a2 g.chr11:76372296G>A ENST00000407242.2 - 3 583 c.341C>T c.(340-342)gCg>gTg p.A114V AP001189.4_ENST00000447519.1_RNA|LRRC32_ENST00000260061.5_Missense_Mutation_p.A114V|LRRC32_ENST00000464145.1_Intron|LRRC32_ENST00000404995.1_Missense_Mutation_p.A114V NM_005512.2 NP_005503.1 Q14392 LRC32_HUMAN leucine rich repeat containing 32 114 integral to plasma membrane p.A114E(1) endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1) 31 AGCACTCAGCGCAGTGGCCAT 0.677000 22 30 0 0 1 0 0 OSBPL3 26031 broad.mit.edu 37 7 24843938 24843938 + Missense_Mutation SNP A A G TCGA-RY-A83Z-01A-11D-A36O-08 TCGA-RY-A83Z-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx d271a752-7ca6-4aba-8228-ef9170578a6d dc098538-0bed-4cdf-8129-95b37d2fb1a2 g.chr7:24843938A>G ENST00000313367.2 - 22 3014 c.2563T>C c.(2563-2565)Ttc>Ctc p.F855L OSBPL3_ENST00000352860.1_Missense_Mutation_p.F824L|OSBPL3_ENST00000353930.1_Missense_Mutation_p.F819L|OSBPL3_ENST00000409069.1_Missense_Mutation_p.F788L|OSBPL3_ENST00000396429.1_Missense_Mutation_p.F819L|OSBPL3_ENST00000396431.1_Missense_Mutation_p.F824L|OSBPL3_ENST00000487020.1_5'UTR|OSBPL3_ENST00000431825.2_Missense_Mutation_p.F788L NM_015550.2 NP_056365.1 Q9H4L5 OSBL3_HUMAN oxysterol binding protein-like 3 855 lipid transport lipid binding|protein binding breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1) 43 ACGAACCTGAAAAACCGAGGC 0.463000 41 51 0 0 1 0 0 WDR72 256764 broad.mit.edu 37 15 53907717 53907717 + Nonsense_Mutation SNP G G A TCGA-RY-A83Z-01A-11D-A36O-08 TCGA-RY-A83Z-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx d271a752-7ca6-4aba-8228-ef9170578a6d dc098538-0bed-4cdf-8129-95b37d2fb1a2 g.chr15:53907717G>A ENST00000396328.1 - 15 2925 c.2686C>T c.(2686-2688)Cga>Tga p.R896* WDR72_ENST00000360509.5_Nonsense_Mutation_p.R896*|WDR72_ENST00000559418.1_Nonsense_Mutation_p.R906*|WDR72_ENST00000557913.1_Nonsense_Mutation_p.R893* NM_001277176.1|NM_182758.2 NP_001264105.1|NP_877435.3 Q3MJ13 WDR72_HUMAN WD repeat domain 72 896 NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 71 all cancers(107;0.0511) TCTGACTCTCGCAAAGAATCA 0.343000 18 30 0 0 1 0 0 ADAM28 10863 broad.mit.edu 37 8 24187604 24187604 + Missense_Mutation SNP T T C TCGA-RY-A83Z-01A-11D-A36O-08 TCGA-RY-A83Z-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx d271a752-7ca6-4aba-8228-ef9170578a6d dc098538-0bed-4cdf-8129-95b37d2fb1a2 g.chr8:24187604T>C ENST00000265769.4 + 11 1189 c.1079T>C c.(1078-1080)aTa>aCa p.I360T ADAM28_ENST00000540823.1_Missense_Mutation_p.I127T|ADAM28_ENST00000397649.3_Missense_Mutation_p.I107T|ADAM28_ENST00000437154.2_Missense_Mutation_p.I360T|RP11-624C23.1_ENST00000523700.1_RNA|RP11-624C23.1_ENST00000518988.1_RNA|ADAM28_ENST00000518516.1_3'UTR|RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA NM_014265.4 NP_055080.2 Q9UKQ2 ADA28_HUMAN ADAM metallopeptidase domain 28 360 Peptidase M12B. proteolysis|spermatogenesis extracellular region|integral to membrane|plasma membrane metalloendopeptidase activity|zinc ion binding central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 Prostate(55;0.0959) Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175) CCTTCTACAATATGTGTGATG 0.473000 6 61 0 0 1 0 0 PHEX 5251 broad.mit.edu 37 X 22245635 22245635 + Missense_Mutation SNP A A T TCGA-RY-A83Z-01A-11D-A36O-08 TCGA-RY-A83Z-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx d271a752-7ca6-4aba-8228-ef9170578a6d dc098538-0bed-4cdf-8129-95b37d2fb1a2 g.chrX:22245635A>T ENST00000379374.4 + 20 2542 c.1977A>T c.(1975-1977)aaA>aaT p.K659N PHEX_ENST00000537599.1_Missense_Mutation_p.K659N|PHEX_ENST00000418858.3_Missense_Mutation_p.K362N|PHEX_ENST00000535894.1_Missense_Mutation_p.K562N NM_000444.4 NP_000435.3 P78562 PHEX_HUMAN phosphate regulating endopeptidase homolog, X-linked 659 biomineral tissue development|cell-cell signaling|protein modification process|proteolysis|skeletal system development integral to plasma membrane aminopeptidase activity|metalloendopeptidase activity|zinc ion binding breast(1)|cervix(2)|endometrium(2)|large_intestine(12)|liver(1)|lung(19)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 42 CTTACAGGAAATGGATAAATG 0.453000 28 25 0 0 1 0 0 MAP3K4 4216 broad.mit.edu 37 6 161469730 161469730 + Silent SNP G G A TCGA-RY-A83Z-01A-11D-A36O-08 TCGA-RY-A83Z-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx d271a752-7ca6-4aba-8228-ef9170578a6d dc098538-0bed-4cdf-8129-95b37d2fb1a2 g.chr6:161469730G>A ENST00000392142.4 + 3 574 c.426G>A c.(424-426)caG>caA p.Q142Q MAP3K4_ENST00000446500.1_3'UTR|MAP3K4_ENST00000366919.2_Silent_p.Q142Q|MAP3K4_ENST00000366920.2_Silent_p.Q142Q|MAP3K4_ENST00000348824.7_Silent_p.Q142Q NM_005922.2 NP_005913.2 Q9Y6R4 M3K4_HUMAN mitogen-activated protein kinase kinase kinase 4 142 activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity perinuclear region of cytoplasm ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1) 77 Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771) OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05) GCTATAAGCAGGAGAAAAAGA 0.373000 27 36 0 0 1 0 0 AC074391.1 0 broad.mit.edu 37 2 65893473 65893473 + RNA DEL T T - TCGA-RY-A83Z-01A-11D-A36O-08 TCGA-RY-A83Z-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx d271a752-7ca6-4aba-8228-ef9170578a6d dc098538-0bed-4cdf-8129-95b37d2fb1a2 g.chr2:65893473delT ENST00000377977.3 + 0 862 cctgggcccctgatgagtcat 0.493 4 4 --- --- --- --- ADRA2B 151 broad.mit.edu 37 2 96780731 96780733 + In_Frame_Del DEL GAA GAA - TCGA-RY-A83Z-01A-11D-A36O-08 TCGA-RY-A83Z-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx d271a752-7ca6-4aba-8228-ef9170578a6d dc098538-0bed-4cdf-8129-95b37d2fb1a2 g.chr2:96780731_96780733delGAA ENST00000409345.3 - 1 1251_1253 c.1156_1158delTTC c.(1156-1158)del p.F386del NM_000682.5 NP_000673.2 P18089 ADA2B_HUMAN adrenoceptor alpha 2B 389 activation of MAPK activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cell-cell signaling|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|negative regulation of epinephrine secretion|negative regulation of norepinephrine secretion|positive regulation of neuron differentiation integral to plasma membrane alpha2-adrenergic receptor activity|epinephrine binding|protein binding endometrium(2)|large_intestine(2)|lung(9)|ovary(3) 16 Bethanidine(DB00217)|Brimonidine(DB00484)|Debrisoquin(DB04840)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Lofexidine(DB04948)|Norepinephrine(DB00368)|Yohimbine(DB01392) GGCTGTAGCTGAAGAAGAAGGGG 0.596 12 17 --- --- --- --- AC018890.6 0 broad.mit.edu 37 2 175585079 175585079 + RNA DEL A A - TCGA-RY-A83Z-01A-11D-A36O-08 TCGA-RY-A83Z-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx d271a752-7ca6-4aba-8228-ef9170578a6d dc098538-0bed-4cdf-8129-95b37d2fb1a2 g.chr2:175585079delA ENST00000442996.1 + 0 217 TTTCATTCTCAAAAAAAAAAA 0.368 OREG0015078 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 2 4 --- --- --- --- ZNF876P 0 broad.mit.edu 37 4 206661 206664 + RNA DEL CGAA CGAA - TCGA-RY-A83Z-01A-11D-A36O-08 TCGA-RY-A83Z-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx d271a752-7ca6-4aba-8228-ef9170578a6d dc098538-0bed-4cdf-8129-95b37d2fb1a2 g.chr4:206661_206664delCGAA ENST00000356347.3 + 0 172 NR_027481.1 ACCCAGTCTGCGAACGGAGTCCCC 0.730 6 9 --- --- --- --- PLG 5340 broad.mit.edu 37 6 161152785 161152786 + Frame_Shift_Del DEL TT TT - TCGA-RY-A83Z-01A-11D-A36O-08 TCGA-RY-A83Z-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx d271a752-7ca6-4aba-8228-ef9170578a6d dc098538-0bed-4cdf-8129-95b37d2fb1a2 g.chr6:161152785_161152786delTT ENST00000308192.9 + 12 1510_1511 c.1447_1448delTT c.(1447-1449)tfs p.F483fs NM_000301.3 NP_000292.1 P00747 PLMN_HUMAN plasminogen 483 Kringle 5. extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen apolipoprotein binding|cell surface binding|serine-type endopeptidase activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1) 59 OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06) Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013) AGACTGTATGTTTGGGAATGGG 0.495 28 50 --- --- --- --- VKORC1L1 154807 broad.mit.edu 37 7 65419354 65419356 + In_Frame_Del DEL TTA TTA - rs71982071 TCGA-RY-A83Z-01A-11D-A36O-08 TCGA-RY-A83Z-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx d271a752-7ca6-4aba-8228-ef9170578a6d dc098538-0bed-4cdf-8129-95b37d2fb1a2 g.chr7:65419354_65419356delTTA ENST00000434382.2 + 2 491_493 c.488_490delTTA c.(487-492)ttt>t p.FI163del VKORC1L1_ENST00000360768.3_3'UTR Q8N0U8 VKORL_HUMAN vitamin K epoxide reductase complex, subunit 1-like 1 0 integral to membrane large_intestine(1)|prostate(1) 2 Lung NSC(55;0.197) Menadione(DB00170)|Warfarin(DB00682) CAGCAGGTTTttattattattat 0.409 2 4 --- --- --- --- PMS2P3 0 broad.mit.edu 37 7 75142142 75142142 + RNA DEL A A - rs35519730 TCGA-RY-A83Z-01A-11D-A36O-08 TCGA-RY-A83Z-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx d271a752-7ca6-4aba-8228-ef9170578a6d dc098538-0bed-4cdf-8129-95b37d2fb1a2 g.chr7:75142142delA ENST00000418756.1 - 0 991 NR_028059.1 lung(1) 1 tctcaaaaagaaaaaaaaaaa 0.418 5 7 --- --- --- --- NOX4 50507 broad.mit.edu 37 11 89106662 89106663 + Splice_Site INS - - A rs56022003 TCGA-RY-A83Z-01A-11D-A36O-08 TCGA-RY-A83Z-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx d271a752-7ca6-4aba-8228-ef9170578a6d dc098538-0bed-4cdf-8129-95b37d2fb1a2 g.chr11:89106662_89106663insA ENST00000535633.1 - 12 1313 c.e12-2 NOX4_ENST00000424319.1_Splice_Site|NOX4_ENST00000343727.5_Splice_Site|NOX4_ENST00000534731.1_Splice_Site|NOX4_ENST00000525196.1_Intron|NOX4_ENST00000527626.1_Splice_Site|NOX4_ENST00000528341.1_Splice_Site|NOX4_ENST00000532825.1_Splice_Site|NOX4_ENST00000542487.1_Splice_Site|NOX4_ENST00000375979.3_Splice_Site|NOX4_ENST00000413594.2_Splice_Site|NOX4_ENST00000531342.1_Splice_Site|NOX4_ENST00000527956.1_Splice_Site|NOX4_ENST00000263317.4_Splice_Site NM_001143836.1|NM_016931.3 NP_001137308.1|NP_058627.1 Q9NPH5 NOX4_HUMAN NADPH oxidase 4 cell aging|cell morphogenesis|inflammatory response|negative regulation of cell proliferation|superoxide anion generation endoplasmic reticulum membrane|focal adhesion|integral to membrane|nucleus electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|nucleotide binding|oxygen sensor activity p.?(1) NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2) 44 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011) AGTTGGACACTAAAAAAAAATA 0.292 9 148 --- --- --- --- DGKA 1606 broad.mit.edu 37 12 56347145 56347145 + Frame_Shift_Del DEL C C - TCGA-RY-A83Z-01A-11D-A36O-08 TCGA-RY-A83Z-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx d271a752-7ca6-4aba-8228-ef9170578a6d dc098538-0bed-4cdf-8129-95b37d2fb1a2 g.chr12:56347145delC ENST00000331886.5 + 23 2529 c.2075delC c.(2074-2076)acfs p.T692fs DGKA_ENST00000551156.1_Frame_Shift_Del_p.T692fs|DGKA_ENST00000549079.2_3'UTR|DGKA_ENST00000394147.1_Frame_Shift_Del_p.T692fs NM_001345.4 NP_001336.2 P23743 DGKA_HUMAN diacylglycerol kinase, alpha 80kDa 692 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation plasma membrane ATP binding|calcium ion binding|diacylglycerol kinase activity breast(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(4)|pancreas(1)|skin(3)|urinary_tract(1) 25 Vitamin E(DB00163) ACCACAAAAACCCTTCCCATG 0.463 143 179 --- --- --- --- KCNMB4 27345 broad.mit.edu 37 12 70824293 70824294 + In_Frame_Ins INS - - ATGATG TCGA-RY-A83Z-01A-11D-A36O-08 TCGA-RY-A83Z-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx d271a752-7ca6-4aba-8228-ef9170578a6d dc098538-0bed-4cdf-8129-95b37d2fb1a2 g.chr12:70824293_70824294insATGATG ENST00000258111.4 + 3 952_953 c.493_494insATGATG c.(493-495)tga>ATGATGtga p.164_165insMM NM_014505.5 NP_055320.4 Q86W47 KCMB4_HUMAN potassium large conductance calcium-activated channel, subfamily M, beta member 4 164 detection of calcium ion|platelet activation|regulation of action potential in neuron|regulation of neurotransmitter secretion|regulation of vasoconstriction|synaptic transmission voltage-gated potassium channel complex calcium-activated potassium channel activity|protein binding kidney(1)|large_intestine(4)|lung(5) 10 Renal(347;0.236) Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118) GCATCGCACTCATGATGAGATT 0.490 39 83 --- --- --- --- RP11-796E2.4 0 broad.mit.edu 37 12 92562665 92562666 + RNA INS - - A rs111983039 TCGA-RY-A83Z-01A-11D-A36O-08 TCGA-RY-A83Z-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx d271a752-7ca6-4aba-8228-ef9170578a6d dc098538-0bed-4cdf-8129-95b37d2fb1a2 g.chr12:92562665_92562666insA ENST00000499685.2 + 0 164 AGTAGGTGTTTAAAAAAAAAAA 0.401 2 4 --- --- --- --- ATRX 546 broad.mit.edu 37 X 76889121 76889122 + Frame_Shift_Ins INS - - T TCGA-RY-A83Z-01A-11D-A36O-08 TCGA-RY-A83Z-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx d271a752-7ca6-4aba-8228-ef9170578a6d dc098538-0bed-4cdf-8129-95b37d2fb1a2 g.chrX:76889121_76889122insT ENST00000373344.5 - 18 5102_5103 c.4888_4889insA c.(4888-4890)tgcfs p.C1630fs ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Ins_p.C1592fs NM_000489.3 NP_000480.2 P46100 ATRX_HUMAN alpha thalassemia/mental retardation syndrome X-linked 1630 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) ATTCAAAGCAGTATTAAGAGGA 0.337 """Mis, F, N""" """Pancreatic neuroendocrine tumors, paediatric GBM""" ATR-X (alpha thalassemia/mental retardation) syndrome 40 57 --- --- --- ---