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 C12orf42 374470 broad.mit.edu 37 12 103700092 103700092 + Silent SNP C C T TCGA-YL-A8SJ-01B-11D-A377-08 TCGA-YL-A8SJ-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38d44b16-89f5-4293-842e-0c7da7c23487 5aff2614-4c95-4b26-85c4-4f0a97991d56 g.chr12:103700092C>T ENST00000548048.1 - 8 586 c.90G>A c.(88-90)gcG>gcA p.A30A C12orf42_ENST00000548789.1_5'UTR|C12orf42_ENST00000548883.1_Silent_p.A97A|C12orf42_ENST00000315192.8_Intron|C12orf42_ENST00000378113.2_Silent_p.A97A Q96LP6 CL042_HUMAN chromosome 12 open reading frame 42 97 p.A97A(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1) 22 GTCTTTTACACGCCATTGAAT 0.378000 3 17 0 0 1 0 0 AGAP10 728127 broad.mit.edu 37 10 47207813 47207813 + Splice_Site SNP T T C TCGA-YL-A8SJ-01B-11D-A377-08 TCGA-YL-A8SJ-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38d44b16-89f5-4293-842e-0c7da7c23487 5aff2614-4c95-4b26-85c4-4f0a97991d56 g.chr10:47207813T>C ENST00000355232.3 - 5 3482 c.471_splice c.e5+1 p.H157_splice AGAP10_ENST00000452145.2_Splice_Site_p.H132_splice|AGAP10_ENST00000413193.2_Splice_Site_p.H228_splice|RP11-144G6.12_ENST00000605970.1_RNA ArfGAP with GTPase domain, ankyrin repeat and PH domain 10 p.H228R(20) endometrium(5)|kidney(3)|lung(1)|prostate(2)|urinary_tract(1) 12 TTTACTTACATGGTTTGTACA 0.294000 3 40 0 0 1 0 0 MCC 4163 broad.mit.edu 37 5 112437491 112437491 + Missense_Mutation SNP C C T TCGA-YL-A8SJ-01B-11D-A377-08 TCGA-YL-A8SJ-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38d44b16-89f5-4293-842e-0c7da7c23487 5aff2614-4c95-4b26-85c4-4f0a97991d56 g.chr5:112437491C>T ENST00000302475.4 - 6 1336 c.773G>A c.(772-774)cGg>cAg p.R258Q MCC_ENST00000514701.3_5'UTR|MCC_ENST00000515367.2_Missense_Mutation_p.R195Q|MCC_ENST00000408903.3_Missense_Mutation_p.R448Q NM_002387.2 NP_002378.1 P23508 CRCM_HUMAN mutated in colorectal cancers 258 negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway cytoplasm|nucleus|plasma membrane protein binding|receptor activity endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198) OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766) GGCCTTAGTCCGGTTCAGTTC 0.597000 8 69 0 0 1 0 0 STEAP3 55240 broad.mit.edu 37 2 120005702 120005702 + Missense_Mutation SNP G G A TCGA-YL-A8SJ-01B-11D-A377-08 TCGA-YL-A8SJ-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38d44b16-89f5-4293-842e-0c7da7c23487 5aff2614-4c95-4b26-85c4-4f0a97991d56 g.chr2:120005702G>A ENST00000354888.5 + 4 1444 c.940G>A c.(940-942)Gcc>Acc p.A314T STEAP3_ENST00000450943.2_Missense_Mutation_p.A314T|STEAP3_ENST00000409811.1_Missense_Mutation_p.A314T|STEAP3_ENST00000425223.2_Missense_Mutation_p.A314T|STEAP3-AS1_ENST00000454260.1_RNA|STEAP3_ENST00000393108.2_Missense_Mutation_p.A314T|STEAP3_ENST00000393110.2_Missense_Mutation_p.A324T|STEAP3_ENST00000393107.2_Missense_Mutation_p.A314T|STEAP3_ENST00000393106.2_Missense_Mutation_p.A314T NM_182915.2 NP_878919.2 Q658P3 STEA3_HUMAN STEAP family member 3, metalloreductase 314 Ferric oxidoreductase. apoptosis|cell cycle|cellular iron ion homeostasis|protein secretion|transferrin transport|transmembrane transport endosome membrane|integral to membrane|multivesicular body electron carrier activity|flavin adenine dinucleotide binding|iron ion binding breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(4)|skin(1) 17 CTTCTGCGCCGCCCTGCACGC 0.672000 3 26 0 0 1 0 0 SI 6476 broad.mit.edu 37 3 164714349 164714349 + Missense_Mutation SNP T T C TCGA-YL-A8SJ-01B-11D-A377-08 TCGA-YL-A8SJ-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38d44b16-89f5-4293-842e-0c7da7c23487 5aff2614-4c95-4b26-85c4-4f0a97991d56 g.chr3:164714349T>C ENST00000264382.3 - 40 4728 c.4666A>G c.(4666-4668)Agg>Ggg p.R1556G NM_001041.3 NP_001032.2 P14410 SUIS_HUMAN sucrase-isomaltase (alpha-glucosidase) 1556 Sucrase. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|brush border|Golgi apparatus|integral to membrane carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1) 218 Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199) Acarbose(DB00284) TTGTGATTCCTTGAGTATGGA 0.353000 HNSCC(35;0.089) 54 146 0 0 1 0 0 PMPCA 23203 broad.mit.edu 37 9 139313550 139313550 + Missense_Mutation SNP G G A TCGA-YL-A8SJ-01B-11D-A377-08 TCGA-YL-A8SJ-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38d44b16-89f5-4293-842e-0c7da7c23487 5aff2614-4c95-4b26-85c4-4f0a97991d56 g.chr9:139313550G>A ENST00000371717.3 + 11 1264 c.1255G>A c.(1255-1257)Gtg>Atg p.V419M PMPCA_ENST00000462616.1_3'UTR|PMPCA_ENST00000399219.3_Missense_Mutation_p.V288M NM_015160.1 NP_055975.1 Q10713 MPPA_HUMAN peptidase (mitochondrial processing) alpha 419 proteolysis mitochondrial inner membrane|mitochondrial matrix metalloendopeptidase activity|zinc ion binding endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|urinary_tract(1) 14 Myeloproliferative disorder(178;0.0821) OV - Ovarian serous cystadenocarcinoma(145;9.3e-06)|Epithelial(140;1.15e-05) GGGCGGAACCGTGGACACGGT 0.557000 32 47 0 0 1 0 0 SRCAP 10847 broad.mit.edu 37 16 30732587 30732587 + Missense_Mutation SNP C C T TCGA-YL-A8SJ-01B-11D-A377-08 TCGA-YL-A8SJ-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38d44b16-89f5-4293-842e-0c7da7c23487 5aff2614-4c95-4b26-85c4-4f0a97991d56 g.chr16:30732587C>T ENST00000262518.4 + 21 3716 c.3331C>T c.(3331-3333)Cct>Tct p.P1111S SRCAP_ENST00000395059.2_Missense_Mutation_p.P1111S|SRCAP_ENST00000344771.4_Intron NM_006662.2 NP_006653.2 Q6ZRS2 SRCAP_HUMAN Snf2-related CREBBP activator protein 1111 Pro-rich. interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|nucleus|protein complex ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5) 136 Colorectal(24;0.198) GCCAACACCACCTGCCCCAGT 0.632000 22 54 0 0 1 0 0 WDFY3 23001 broad.mit.edu 37 4 85656271 85656271 + Missense_Mutation SNP C C A TCGA-YL-A8SJ-01B-11D-A377-08 TCGA-YL-A8SJ-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38d44b16-89f5-4293-842e-0c7da7c23487 5aff2614-4c95-4b26-85c4-4f0a97991d56 g.chr4:85656271C>A ENST00000322366.6 - 43 7325 c.6918G>T c.(6916-6918)gaG>gaT p.E2306D WDFY3_ENST00000295888.4_Missense_Mutation_p.E2306D Q8IZQ1 WDFY3_HUMAN WD repeat and FYVE domain containing 3 2306 cytoplasmic part|extrinsic to membrane|nuclear envelope 1-phosphatidylinositol binding|metal ion binding|protein binding breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 134 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000808) ACTGCGAAATCTCCTAACAAT 0.299000 18 38 0.00074312 0.000774742 1 1 0 GALNT15 117248 broad.mit.edu 37 3 16237352 16237352 + Missense_Mutation SNP C C T TCGA-YL-A8SJ-01B-11D-A377-08 TCGA-YL-A8SJ-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38d44b16-89f5-4293-842e-0c7da7c23487 5aff2614-4c95-4b26-85c4-4f0a97991d56 g.chr3:16237352C>T ENST00000339732.5 + 2 1128 c.625C>T c.(625-627)Cgg>Tgg p.R209W GALNT15_ENST00000437509.1_Missense_Mutation_p.R209W NM_054110.4 NP_473451.3 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15 CACTCTCCTGCGGACTGTACA 0.607000 3 42 0 0 1 0 0 DNAH17 8632 broad.mit.edu 37 17 76457691 76457691 + Missense_Mutation SNP C C T TCGA-YL-A8SJ-01B-11D-A377-08 TCGA-YL-A8SJ-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38d44b16-89f5-4293-842e-0c7da7c23487 5aff2614-4c95-4b26-85c4-4f0a97991d56 g.chr17:76457691C>T ENST00000389840.5 - 58 9356 c.9232G>A c.(9232-9234)Gag>Aag p.E3078K DNAH17_ENST00000586052.1_5'UTR|DNAH17_ENST00000585328.1_Missense_Mutation_p.E3087K dynein, axonemal, heavy chain 17 NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 116 BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656) CTGACCTTCTCGGCCTCGATG 0.542000 8 15 0 0 1 0 0 RBM12 10137 broad.mit.edu 37 20 34240454 34240454 + Silent SNP A A G TCGA-YL-A8SJ-01B-11D-A377-08 TCGA-YL-A8SJ-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38d44b16-89f5-4293-842e-0c7da7c23487 5aff2614-4c95-4b26-85c4-4f0a97991d56 g.chr20:34240454A>G ENST00000374114.3 - 3 3054 c.2791T>C c.(2791-2793)Tta>Cta p.L931L RBM12_ENST00000359646.1_Silent_p.L931L|CPNE1_ENST00000352393.4_Intron|CPNE1_ENST00000397446.1_Intron|CPNE1_ENST00000397443.1_Intron|CPNE1_ENST00000317619.3_Intron|CPNE1_ENST00000317677.5_Intron|CPNE1_ENST00000397442.1_Intron|RBM12_ENST00000374104.3_Silent_p.L931L|CPNE1_ENST00000397445.1_Intron NM_001198838.1|NM_001198840.1|NM_006047.5 NP_001185767.1|NP_001185769.1|NP_006038.2 Q9NTZ6 RBM12_HUMAN RNA binding motif protein 12 931 RRM 3. nucleus nucleotide binding|protein binding|RNA binding breast(3)|endometrium(7)|kidney(1)|large_intestine(3)|lung(14)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 Lung NSC(9;0.00608)|all_lung(11;0.00918) BRCA - Breast invasive adenocarcinoma(18;0.00953) GGCTACCCTAATACAAGTTTT 0.403000 11 77 0 0 1 0 0 TENM4 26011 broad.mit.edu 37 11 78380123 78380123 + Missense_Mutation SNP C C A TCGA-YL-A8SJ-01B-11D-A377-08 TCGA-YL-A8SJ-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38d44b16-89f5-4293-842e-0c7da7c23487 5aff2614-4c95-4b26-85c4-4f0a97991d56 g.chr11:78380123C>A ENST00000278550.7 - 32 7729 c.7267G>T c.(7267-7269)Gtg>Ttg p.V2423L NM_001098816.2 NP_001092286.2 teneurin transmembrane protein 4 CCGGCCAGCACATCATAATCT 0.498000 8 19 3.09899e-07 3.37445e-07 1 1 0 CROCCP2 0 broad.mit.edu 37 1 16956534 16956534 + RNA SNP C C T TCGA-YL-A8SJ-01B-11D-A377-08 TCGA-YL-A8SJ-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38d44b16-89f5-4293-842e-0c7da7c23487 5aff2614-4c95-4b26-85c4-4f0a97991d56 g.chr1:16956534C>T ENST00000412962.1 - 0 294 GACGGCGCCACGCAGGTGTTC 0.602000 4 27 0 0 1 0 0 GHRL 51738 broad.mit.edu 37 3 10331494 10331494 + Silent SNP C C T rs113751742 byFrequency TCGA-YL-A8SJ-01B-11D-A377-08 TCGA-YL-A8SJ-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38d44b16-89f5-4293-842e-0c7da7c23487 5aff2614-4c95-4b26-85c4-4f0a97991d56 g.chr3:10331494C>T ENST00000335542.8 - 4 1047 c.177G>A c.(175-177)ccG>ccA p.P59P GHRLOS_ENST00000605014.1_RNA|GHRL_ENST00000449554.2_Silent_p.P58P|GHRLOS_ENST00000439539.3_RNA|GHRL_ENST00000429122.1_Silent_p.P59P|GHRL_ENST00000437422.2_Silent_p.P47P|GHRL_ENST00000287656.7_Silent_p.P58P|GHRL_ENST00000439975.2_Intron|GHRLOS_ENST00000603771.1_RNA|GHRL_ENST00000430179.1_Silent_p.P58P|GHRL_ENST00000450603.1_Silent_p.P59P|GHRL_ENST00000446937.2_Intron|GHRL_ENST00000457360.1_Silent_p.P59P|GHRL_ENST00000422159.1_Silent_p.P59P|GHRLOS_ENST00000605105.1_RNA|GHRL_ENST00000449238.2_Silent_p.P46P Q9UBU3 GHRL_HUMAN ghrelin/obestatin prepropeptide 59 actin polymerization or depolymerization|activation of MAPK activity|adult feeding behavior|cartilage development|cortisol secretion|decidualization|dendrite development|elevation of cytosolic calcium ion concentration|G-protein coupled receptor protein signaling pathway|glucose metabolic process|growth hormone secretion|hormone-mediated signaling pathway|negative regulation of angiogenesis|negative regulation of circadian sleep/wake cycle, REM sleep|negative regulation of endothelial cell proliferation|negative regulation of inflammatory response|negative regulation of interleukin-1 beta production|negative regulation of interleukin-6 biosynthetic process|negative regulation of tumor necrosis factor biosynthetic process|positive regulation of appetite|positive regulation of circadian sleep/wake cycle, non-REM sleep|positive regulation of corticotropin secretion|positive regulation of cortisol secretion|positive regulation of growth hormone secretion|positive regulation of insulin secretion|positive regulation of synaptogenesis|response to estrogen stimulus axon|endoplasmic reticulum lumen|extracellular space|stored secretory granule ghrelin receptor binding|growth hormone-releasing hormone activity|protein tyrosine kinase activator activity breast(2)|large_intestine(1)|lung(1)|ovary(1) 5 CTCCATCTTCCGGGCGGAGCC 0.587000 5 130 0 0 1 0 0 IL1A 3552 broad.mit.edu 37 2 113535636 113535636 + Silent SNP G G A TCGA-YL-A8SJ-01B-11D-A377-08 TCGA-YL-A8SJ-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38d44b16-89f5-4293-842e-0c7da7c23487 5aff2614-4c95-4b26-85c4-4f0a97991d56 g.chr2:113535636G>A ENST00000263339.3 - 6 698 c.543C>T c.(541-543)acC>acT p.T181T NM_000575.3 NP_000566.3 P01583 IL1A_HUMAN interleukin 1, alpha 181 anti-apoptosis|apoptosis|cell proliferation|cellular response to heat|cytokine-mediated signaling pathway|fever generation|immune response|negative regulation of cell proliferation|positive regulation of angiogenesis|positive regulation of cell division|positive regulation of cytokine secretion|positive regulation of interleukin-2 biosynthetic process|positive regulation of mitosis|positive regulation vascular endothelial growth factor production|response to copper ion cytosol|extracellular space copper ion binding|cytokine activity|interleukin-1 receptor binding p.T181T(1) breast(2)|large_intestine(1)|lung(9) 12 TTAGAATCACGGTAATTTTAG 0.373000 15 64 0 0 1 0 0 TGM6 343641 broad.mit.edu 37 20 2375142 2375142 + Missense_Mutation SNP G G A TCGA-YL-A8SJ-01B-11D-A377-08 TCGA-YL-A8SJ-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38d44b16-89f5-4293-842e-0c7da7c23487 5aff2614-4c95-4b26-85c4-4f0a97991d56 g.chr20:2375142G>A ENST00000202625.2 + 2 113 c.52G>A c.(52-54)Gct>Act p.A18T TGM6_ENST00000381423.1_Missense_Mutation_p.A18T|TGM6_ENST00000477505.1_3'UTR NM_198994.2 NP_945345.2 O95932 TGM3L_HUMAN transglutaminase 6 18 cell death|peptide cross-linking acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4) 52 L-Glutamine(DB00130) GAGGAATGGCGCTGCCCACCA 0.647000 11 25 0 0 1 0 0 ALOX12B 242 broad.mit.edu 37 17 7983166 7983166 + Missense_Mutation SNP A A T TCGA-YL-A8SJ-01B-11D-A377-08 TCGA-YL-A8SJ-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38d44b16-89f5-4293-842e-0c7da7c23487 5aff2614-4c95-4b26-85c4-4f0a97991d56 g.chr17:7983166A>T ENST00000319144.4 - 7 1108 c.848T>A c.(847-849)aTc>aAc p.I283N AC129492.6_ENST00000399413.3_5'UTR NM_001139.2 NP_001130.1 O75342 LX12B_HUMAN arachidonate 12-lipoxygenase, 12R type 283 Lipoxygenase. epidermis development|leukotriene biosynthetic process arachidonate 12-lipoxygenase activity|iron ion binding|lipoxygenase activity endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|stomach(1) 16 CTTGTCTGGGATCCGCGTGCA 0.657000 Multiple Myeloma(8;0.094) 5 11 0 0 1 0 0 TCEB3C 162699 broad.mit.edu 37 18 44554578 44554578 + Nonsense_Mutation SNP G G A TCGA-YL-A8SJ-01B-11D-A377-08 TCGA-YL-A8SJ-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38d44b16-89f5-4293-842e-0c7da7c23487 5aff2614-4c95-4b26-85c4-4f0a97991d56 g.chr18:44554578G>A ENST00000330682.2 - 1 1871 c.1636C>T c.(1636-1638)Cga>Tga p.R546* KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000245121.5_Intron NM_145653.3 NP_663628.2 Q8NG57 ELOA3_HUMAN transcription elongation factor B polypeptide 3C (elongin A3) 546 regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to membrane|nucleus DNA binding NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(16)|skin(2) 30 TGAGTTTATCGTCGGGAGAAT 0.567000 11 1121 0 0 1 0 0 GRM1 2911 broad.mit.edu 37 6 146755853 146755853 + Missense_Mutation SNP C C T TCGA-YL-A8SJ-01B-11D-A377-08 TCGA-YL-A8SJ-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38d44b16-89f5-4293-842e-0c7da7c23487 5aff2614-4c95-4b26-85c4-4f0a97991d56 g.chr6:146755853C>T ENST00000361719.2 + 9 3976 c.3506C>T c.(3505-3507)tCg>tTg p.S1169L GRM1_ENST00000492807.2_3'UTR|GRM1_ENST00000282753.1_Missense_Mutation_p.S1169L|GRM1_ENST00000507907.1_3'UTR|GRM1_ENST00000392299.2_3'UTR|GRM1_ENST00000355289.4_3'UTR NM_001278064.1 NP_001264993.1 Q13255 GRM1_HUMAN glutamate receptor, metabotropic 1 1169 Ser-rich. synaptic transmission integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1) 126 Ovarian(120;0.0387) OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762) Acamprosate(DB00659)|L-Glutamic Acid(DB00142) GTGTCCGAGTCGGTGCTCTGC 0.627000 16 34 0 0 1 0 0 NPTX2 4885 broad.mit.edu 37 7 98257788 98257788 + Silent SNP C C T TCGA-YL-A8SJ-01B-11D-A377-08 TCGA-YL-A8SJ-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38d44b16-89f5-4293-842e-0c7da7c23487 5aff2614-4c95-4b26-85c4-4f0a97991d56 g.chr7:98257788C>T ENST00000265634.3 + 5 1308 c.1143C>T c.(1141-1143)cgC>cgT p.R381R NM_002523.2 NP_002514.1 P47972 NPTX2_HUMAN neuronal pentraxin II 381 Pentaxin. synaptic transmission extracellular region metal ion binding|sugar binding breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 18 all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142) STAD - Stomach adenocarcinoma(171;0.215) TATGGGACCGCGTCCTTCGCG 0.557000 4 8 0 0 1 0 0 ZNF571 51276 broad.mit.edu 37 19 38056651 38056651 + Missense_Mutation SNP C C T rs115491718 byFrequency TCGA-YL-A8SJ-01B-11D-A377-08 TCGA-YL-A8SJ-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38d44b16-89f5-4293-842e-0c7da7c23487 5aff2614-4c95-4b26-85c4-4f0a97991d56 g.chr19:38056651C>T ENST00000328550.2 - 4 778 c.679G>A c.(679-681)Gca>Aca p.A227T ZNF571-AS1_ENST00000589750.1_RNA|ZNF571-AS1_ENST00000589802.1_RNA|ZNF571-AS1_ENST00000585578.1_RNA|ZNF571_ENST00000593133.1_Missense_Mutation_p.A227T|ZNF540_ENST00000592533.1_Intron|ZNF571-AS1_ENST00000586139.1_RNA|ZNF571-AS1_ENST00000592392.1_RNA|ZNF571-AS1_ENST00000586013.1_RNA|ZNF571-AS1_ENST00000591430.1_RNA|ZNF571_ENST00000590751.1_Intron|ZNF571-AS1_ENST00000590838.1_RNA|ZNF571-AS1_ENST00000587121.1_RNA|ZNF571_ENST00000451802.2_Missense_Mutation_p.A227T|ZNF571_ENST00000358744.3_Missense_Mutation_p.A227T Q7Z3V5 ZN571_HUMAN zinc finger protein 571 227 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.A227T(1) breast(1)|endometrium(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 25 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) TTCCCACATGCGTTACACTGA 0.383000 17 44 0 0 1 0 0 NKX6-2 84504 broad.mit.edu 37 10 134598510 134598510 + Silent SNP G G A TCGA-YL-A8SJ-01B-11D-A377-08 TCGA-YL-A8SJ-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38d44b16-89f5-4293-842e-0c7da7c23487 5aff2614-4c95-4b26-85c4-4f0a97991d56 g.chr10:134598510G>A ENST00000368592.5 - 3 847 c.744C>T c.(742-744)gaC>gaT p.D248D NM_177400.2 NP_796374.1 Q9C056 NKX62_HUMAN NK6 homeobox 2 248 nucleus sequence-specific DNA binding transcription factor activity endometrium(1)|lung(2) 3 all_cancers(35;2.79e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0584)|Melanoma(40;0.123)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;4.06e-05)|Epithelial(32;5.53e-05)|all cancers(32;5.99e-05) TGATCTTCTCGTCGTCCGAGT 0.672000 3 24 0 0 1 0 0 PLB1 151056 broad.mit.edu 37 2 28752252 28752252 + Missense_Mutation SNP G G T TCGA-YL-A8SJ-01B-11D-A377-08 TCGA-YL-A8SJ-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38d44b16-89f5-4293-842e-0c7da7c23487 5aff2614-4c95-4b26-85c4-4f0a97991d56 g.chr2:28752252G>T ENST00000422425.2 + 7 438 c.394G>T c.(394-396)Gtc>Ttc p.V132F PLB1_ENST00000327757.5_Missense_Mutation_p.V132F NM_001170585.1 NP_001164056.1 Q6P1J6 PLB1_HUMAN phospholipase B1 132 4 X 308-326 AA approximate repeats. lipid catabolic process|retinoid metabolic process|steroid metabolic process apical plasma membrane|integral to membrane lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2) 69 Acute lymphoblastic leukemia(172;0.155) TGGAAAGAGAGTCATACCCCA 0.483000 8 53 0.0381472 0.0381472 1 1 0 C9orf43 257169 broad.mit.edu 37 9 116187645 116187645 + Missense_Mutation SNP G G A TCGA-YL-A8SJ-01B-11D-A377-08 TCGA-YL-A8SJ-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38d44b16-89f5-4293-842e-0c7da7c23487 5aff2614-4c95-4b26-85c4-4f0a97991d56 g.chr9:116187645G>A ENST00000288462.4 + 10 1333 c.887G>A c.(886-888)cGg>cAg p.R296Q C9orf43_ENST00000374165.1_Missense_Mutation_p.R296Q NM_152786.1 NP_689999.1 Q8TAL5 CI043_HUMAN chromosome 9 open reading frame 43 296 Gln-rich. breast(2)|large_intestine(6)|lung(2)|ovary(1)|pancreas(1)|prostate(3) 15 cagcagcagcggcagcagcag 0.547000 3 59 0 0 1 0 0 CDSN 1041 broad.mit.edu 37 6 31084297 31084297 + Silent SNP C C T TCGA-YL-A8SJ-01B-11D-A377-08 TCGA-YL-A8SJ-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38d44b16-89f5-4293-842e-0c7da7c23487 5aff2614-4c95-4b26-85c4-4f0a97991d56 g.chr6:31084297C>T ENST00000376288.2 - 2 1121 c.1095G>A c.(1093-1095)tcG>tcA p.S365S PSORS1C1_ENST00000467107.1_3'UTR|PSORS1C1_ENST00000259881.9_Intron NM_001264.4 NP_001255.3 Q15517 CDSN_HUMAN corneodesmosin 365 Ser-rich. cell-cell adhesion|keratinocyte differentiation|skin morphogenesis cornified envelope|desmosome|extracellular region protein homodimerization activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1) 10 ATGCAATGGCCGAGGAAGCTG 0.642000 8 15 0 0 1 0 0 UNK 85451 broad.mit.edu 37 17 73809210 73809210 + Missense_Mutation SNP C C T TCGA-YL-A8SJ-01B-11D-A377-08 TCGA-YL-A8SJ-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38d44b16-89f5-4293-842e-0c7da7c23487 5aff2614-4c95-4b26-85c4-4f0a97991d56 g.chr17:73809210C>T ENST00000293218.3 + 6 902 c.902C>T c.(901-903)cCg>cTg p.P301L UNK_ENST00000589666.1_Missense_Mutation_p.P225L Q9C0B0 UNK_HUMAN unkempt family zinc finger 225 nucleic acid binding|zinc ion binding p.P225L(1) cervix(3)|endometrium(8)|kidney(2)|large_intestine(5)|lung(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 25 all cancers(21;2.61e-06)|Epithelial(20;7.39e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|LUSC - Lung squamous cell carcinoma(166;0.154) AAGAAGCCCCCGCGGCTGTGC 0.632000 3 5 0 0 1 0 0 FRMD5 84978 broad.mit.edu 37 15 44166604 44166604 + Missense_Mutation SNP C C T TCGA-YL-A8SJ-01B-11D-A377-08 TCGA-YL-A8SJ-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38d44b16-89f5-4293-842e-0c7da7c23487 5aff2614-4c95-4b26-85c4-4f0a97991d56 g.chr15:44166604C>T ENST00000417257.1 - 14 1368 c.1192G>A c.(1192-1194)Ggg>Agg p.G398R FRMD5_ENST00000484674.1_Missense_Mutation_p.G304R|FRMD5_ENST00000402883.1_Missense_Mutation_p.G398R NM_032892.3 NP_116281.2 Q7Z6J6 FRMD5_HUMAN FERM domain containing 5 398 cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane cytoskeletal protein binding breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 14 all_cancers(109;2.29e-15)|all_epithelial(112;9.98e-13)|Lung NSC(122;4.89e-08)|all_lung(180;5.08e-07)|Melanoma(134;0.0275) all cancers(107;8.63e-20)|GBM - Glioblastoma multiforme(94;3.63e-06) AAGGTGTCCCCATGGGAAGTG 0.562000 10 38 0 0 1 0 0 SMCR8 140775 broad.mit.edu 37 17 18219934 18219934 + Silent SNP G G A TCGA-YL-A8SJ-01B-11D-A377-08 TCGA-YL-A8SJ-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38d44b16-89f5-4293-842e-0c7da7c23487 5aff2614-4c95-4b26-85c4-4f0a97991d56 g.chr17:18219934G>A ENST00000406438.3 + 1 1311 c.831G>A c.(829-831)caG>caA p.Q277Q NM_144775.2 NP_658988.2 Q8TEV9 SMCR8_HUMAN Smith-Magenis syndrome chromosome region, candidate 8 277 breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 21 TCCAGGATCAGGCCAGCCAGG 0.512000 7 27 0 0 1 0 0 CLDN20 49861 broad.mit.edu 37 6 155597385 155597385 + Missense_Mutation SNP G G A TCGA-YL-A8SJ-01B-11D-A377-08 TCGA-YL-A8SJ-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38d44b16-89f5-4293-842e-0c7da7c23487 5aff2614-4c95-4b26-85c4-4f0a97991d56 g.chr6:155597385G>A ENST00000367165.3 + 2 912 c.532G>A c.(532-534)Ggc>Agc p.G178S TFB1M_ENST00000367166.4_Intron NM_001001346.3 NP_001001346.1 P56880 CLD20_HUMAN claudin 20 178 calcium-independent cell-cell adhesion|tight junction assembly integral to membrane|tight junction identical protein binding|structural molecule activity endometrium(1)|lung(2) 3 OV - Ovarian serous cystadenocarcinoma(155;7.82e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0114) GTTTATCTCTGGCATGATTTT 0.438000 18 58 0 0 1 0 0 SHOX2 6474 broad.mit.edu 37 3 157820524 157820524 + Silent SNP G G A TCGA-YL-A8SJ-01B-11D-A377-08 TCGA-YL-A8SJ-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38d44b16-89f5-4293-842e-0c7da7c23487 5aff2614-4c95-4b26-85c4-4f0a97991d56 g.chr3:157820524G>A ENST00000490689.2 - 2 1644 c.111C>T c.(109-111)gaC>gaT p.D37D SHOX2_ENST00000554685.1_5'UTR|SHOX2_ENST00000425436.3_Silent_p.D166D|SHOX2_ENST00000483851.2_Silent_p.D166D|SHOX2_ENST00000441443.2_Silent_p.D37D|SHOX2_ENST00000389589.4_Silent_p.D190D O60902 SHOX2_HUMAN short stature homeobox 2 166 nervous system development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(10)|skin(3)|upper_aerodigestive_tract(1) 20 Lung(72;0.00318)|LUSC - Lung squamous cell carcinoma(72;0.0043) GCATGAAGGCGTCGGGATAGT 0.592000 6 65 0 0 1 0 0 NRAP 4892 broad.mit.edu 37 10 115364399 115364399 + Nonsense_Mutation SNP C C T TCGA-YL-A8SJ-01B-11D-A377-08 TCGA-YL-A8SJ-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38d44b16-89f5-4293-842e-0c7da7c23487 5aff2614-4c95-4b26-85c4-4f0a97991d56 g.chr10:115364399C>T ENST00000369358.4 - 35 4464 c.4220G>A c.(4219-4221)tGg>tAg p.W1407* NRAP_ENST00000369360.3_Nonsense_Mutation_p.W1372*|NRAP_ENST00000360478.3_Nonsense_Mutation_p.W1364*|NRAP_ENST00000359988.3_Nonsense_Mutation_p.W1399* Q86VF7 NRAP_HUMAN nebulin-related anchoring protein 1399 fascia adherens|muscle tendon junction actin binding|muscle alpha-actinin binding|zinc ion binding autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 95 Colorectal(252;0.0233)|Breast(234;0.188) Epithelial(162;0.00392)|all cancers(201;0.00569) TTTCTTGGCCCAGGCCATCTT 0.582000 15 20 0 0 1 0 0 SLC15A1 6564 broad.mit.edu 37 13 99362008 99362008 + Silent SNP G G A rs141847035 byFrequency TCGA-YL-A8SJ-01B-11D-A377-08 TCGA-YL-A8SJ-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38d44b16-89f5-4293-842e-0c7da7c23487 5aff2614-4c95-4b26-85c4-4f0a97991d56 g.chr13:99362008G>A ENST00000376503.5 - 13 1021 c.966C>T c.(964-966)ccC>ccT p.P322P NM_005073.3 NP_005064.1 P46059 S15A1_HUMAN solute carrier family 15 (oligopeptide transporter), member 1 322 digestion|protein transport integral to plasma membrane|membrane fraction peptide:hydrogen symporter activity breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) Cefadroxil(DB01140)|Ceftibuten(DB01415)|Cyclacillin(DB01000) GCATCTGATCGGGCTGAATTT 0.423000 15 38 0 0 1 0 0 KIAA1468 57614 broad.mit.edu 37 18 59894681 59894681 + Missense_Mutation SNP A A G TCGA-YL-A8SJ-01B-11D-A377-08 TCGA-YL-A8SJ-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38d44b16-89f5-4293-842e-0c7da7c23487 5aff2614-4c95-4b26-85c4-4f0a97991d56 g.chr18:59894681A>G ENST00000256858.6 + 6 1266 c.1018A>G c.(1018-1020)Ata>Gta p.I340V KIAA1468_ENST00000398130.2_Missense_Mutation_p.I340V Q9P260 K1468_HUMAN KIAA1468 340 binding autonomic_ganglia(1)|breast(4)|endometrium(4)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 47 Colorectal(73;0.186) TACACCAATTATAAGCAACCT 0.403000 10 77 0 0 1 0 0 SYNE1 23345 broad.mit.edu 37 6 152847287 152847287 + Silent SNP G G A TCGA-YL-A8SJ-01B-11D-A377-08 TCGA-YL-A8SJ-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38d44b16-89f5-4293-842e-0c7da7c23487 5aff2614-4c95-4b26-85c4-4f0a97991d56 g.chr6:152847287G>A ENST00000367255.5 - 5 754 c.153C>T c.(151-153)gaC>gaT p.D51D SYNE1_ENST00000448038.1_Silent_p.D51D|SYNE1_ENST00000265368.4_Silent_p.D51D|SYNE1_ENST00000367253.4_Silent_p.D51D|SYNE1_ENST00000423061.1_Silent_p.D51D|SYNE1_ENST00000413186.2_Silent_p.D51D|SYNE1_ENST00000466159.2_Silent_p.D51D|SYNE1_ENST00000341594.5_Silent_p.D51D|SYNE1_ENST00000367248.3_Silent_p.D51D NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 51 Actin-binding.|CH 1. cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) CAAAAAGATCGTCCACCACCA 0.418000 HNSCC(10;0.0054) 24 81 0 0 1 0 0 OR11L1 391189 broad.mit.edu 37 1 248004453 248004453 + Missense_Mutation SNP G G C TCGA-YL-A8SJ-01B-11D-A377-08 TCGA-YL-A8SJ-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38d44b16-89f5-4293-842e-0c7da7c23487 5aff2614-4c95-4b26-85c4-4f0a97991d56 g.chr1:248004453G>C ENST00000355784.2 - 1 801 c.746C>G c.(745-747)aCt>aGt p.T249S NM_001001959.1 NP_001001959.1 Q8NGX0 O11L1_HUMAN olfactory receptor, family 11, subfamily L, member 1 249 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 57 all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858) OV - Ovarian serous cystadenocarcinoma(106;0.0319) GTAGTAGAGAGTGACAACAGC 0.498000 9 28 0 0 1 0 0 MOV10L1 54456 broad.mit.edu 37 22 50581567 50581567 + Missense_Mutation SNP G G T TCGA-YL-A8SJ-01B-11D-A377-08 TCGA-YL-A8SJ-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38d44b16-89f5-4293-842e-0c7da7c23487 5aff2614-4c95-4b26-85c4-4f0a97991d56 g.chr22:50581567G>T ENST00000262794.5 + 17 2358 c.2275G>T c.(2275-2277)Ggt>Tgt p.G759C MOV10L1_ENST00000395843.1_5'UTR|MOV10L1_ENST00000395858.3_Missense_Mutation_p.G759C|MOV10L1_ENST00000545383.1_Missense_Mutation_p.G759C|MOV10L1_ENST00000540615.1_Missense_Mutation_p.G739C NM_018995.2 NP_061868.1 Q9BXT6 M10L1_HUMAN Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse) 759 germ cell development|multicellular organismal development|spermatogenesis ATP binding|ATP-dependent RNA helicase activity|magnesium ion binding|RNA binding breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3) 67 all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114) LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24) GATTCTGAGTGGTGACTGCCG 0.443000 6 122 3.59834e-05 3.83301e-05 1 1 0 ITPR2 3709 broad.mit.edu 37 12 26596569 26596569 + Missense_Mutation SNP A A C TCGA-YL-A8SJ-01B-11D-A377-08 TCGA-YL-A8SJ-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38d44b16-89f5-4293-842e-0c7da7c23487 5aff2614-4c95-4b26-85c4-4f0a97991d56 g.chr12:26596569A>C ENST00000381340.3 - 46 6773 c.6357T>G c.(6355-6357)aaT>aaG p.N2119K NM_002223.2 NP_002214.2 Q14571 ITPR2_HUMAN inositol 1,4,5-trisphosphate receptor, type 2 2119 activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity ETV6/ITPR2(2) biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 125 Colorectal(261;0.0847) GCAACAGTTTATTGTGGCGGG 0.423000 13 24 0 0 1 0 0 VSNL1 7447 broad.mit.edu 37 2 17830730 17830730 + Silent SNP C C T TCGA-YL-A8SJ-01B-11D-A377-08 TCGA-YL-A8SJ-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38d44b16-89f5-4293-842e-0c7da7c23487 5aff2614-4c95-4b26-85c4-4f0a97991d56 g.chr2:17830730C>T ENST00000406397.1 + 3 741 c.216C>T c.(214-216)ttC>ttT p.F72F VSNL1_ENST00000295156.4_Silent_p.F72F|VSNL1_ENST00000404666.2_Silent_p.F72F P62760 VISL1_HUMAN visinin-like 1 72 EF-hand 2. calcium ion binding NS(1)|breast(1)|kidney(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1) 13 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158) TCCGAACCTTCGACAAGAATG 0.557000 6 67 0 0 1 0 0 PFKFB1 5207 broad.mit.edu 37 X 54989723 54989723 + Nonsense_Mutation SNP G G A TCGA-YL-A8SJ-01B-11D-A377-08 TCGA-YL-A8SJ-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38d44b16-89f5-4293-842e-0c7da7c23487 5aff2614-4c95-4b26-85c4-4f0a97991d56 g.chrX:54989723G>A ENST00000375006.3 - 2 260 c.190C>T c.(190-192)Cga>Tga p.R64* PFKFB1_ENST00000374992.2_Nonsense_Mutation_p.R64*|PFKFB1_ENST00000545676.1_Intron NM_002625.2 NP_002616.2 P16118 F261_HUMAN 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 64 6-phosphofructo-2-kinase. energy reserve metabolic process|fructose 2,6-bisphosphate metabolic process|gluconeogenesis|glycolysis|intracellular protein kinase cascade 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 complex 6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(11)|ovary(1) 24 TTGAGATATCGTGTGAGCTTT 0.438000 32 92 0 0 1 0 0 NBPF10 100132406 broad.mit.edu 37 1 145293478 145293478 + Missense_Mutation SNP C C T TCGA-YL-A8SJ-01B-11D-A377-08 TCGA-YL-A8SJ-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38d44b16-89f5-4293-842e-0c7da7c23487 5aff2614-4c95-4b26-85c4-4f0a97991d56 g.chr1:145293478C>T ENST00000342960.5 + 1 108 c.73C>T c.(73-75)Cgc>Tgc p.R25C NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Missense_Mutation_p.R25C|RP11-458D21.5_ENST00000468030.1_3'UTR NM_001039703.4 NP_001034792.4 A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 25 NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) CGAGACATTGCGCCCCCAGCT 0.502000 7 802 0 0 1 0 0 ANKRD20A8P 0 broad.mit.edu 37 2 95497792 95497792 + RNA SNP C C A rs28521748 TCGA-YL-A8SJ-01B-11D-A377-08 TCGA-YL-A8SJ-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38d44b16-89f5-4293-842e-0c7da7c23487 5aff2614-4c95-4b26-85c4-4f0a97991d56 g.chr2:95497792C>A ENST00000432432.2 - 0 1051 NR_040113.1 CTTTTTCATGCGAAGGTCCAG 0.413000 4 257 0.00909568 0.00928517 1 1 0 MUC4 4585 broad.mit.edu 37 3 195511638 195511638 + Silent SNP G G A rs71634713 TCGA-YL-A8SJ-01B-11D-A377-08 TCGA-YL-A8SJ-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38d44b16-89f5-4293-842e-0c7da7c23487 5aff2614-4c95-4b26-85c4-4f0a97991d56 g.chr3:195511638G>A ENST00000463781.3 - 2 7272 c.6813C>T c.(6811-6813)acC>acT p.T2271T MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Silent_p.T2271T NM_018406.6 NP_060876.5 Q99102 MUC4_HUMAN mucin 4, cell surface associated 40 cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) CAGGAAGAGAGGTGGCGTGAC 0.592000 3 4 0 0 1 0 0 CADM1 23705 broad.mit.edu 37 11 115109289 115109289 + Missense_Mutation SNP C C T TCGA-YL-A8SJ-01B-11D-A377-08 TCGA-YL-A8SJ-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38d44b16-89f5-4293-842e-0c7da7c23487 5aff2614-4c95-4b26-85c4-4f0a97991d56 g.chr11:115109289C>T ENST00000542447.2 - 3 483 c.355G>A c.(355-357)Gaa>Aaa p.E119K CADM1_ENST00000452722.2_Missense_Mutation_p.E119K|CADM1_ENST00000537140.1_5'UTR|CADM1_ENST00000537058.1_Missense_Mutation_p.E119K|CADM1_ENST00000536727.1_Missense_Mutation_p.E119K|CADM1_ENST00000331581.6_Missense_Mutation_p.E119K NM_001098517.1 NP_001091987.1 Q9BY67 CADM1_HUMAN cell adhesion molecule 1 119 Ig-like V-type. adherens junction organization|apoptosis|cell differentiation|cell junction assembly|cell recognition|detection of stimulus|heterophilic cell-cell adhesion|homophilic cell adhesion|multicellular organismal development|positive regulation of cytokine secretion|spermatogenesis|susceptibility to natural killer cell mediated cytotoxicity basolateral plasma membrane|cell-cell junction|integral to membrane PDZ domain binding|protein C-terminus binding|protein homodimerization activity|receptor binding cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1) 32 all_hematologic(175;0.0628) all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237) BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303) TATCTTCCTTCATCAGAAATT 0.448000 14 80 0 0 1 0 0 ADRA2B 151 broad.mit.edu 37 2 96780975 96780977 + In_Frame_Del DEL TCC TCC - rs71989981 TCGA-YL-A8SJ-01B-11D-A377-08 TCGA-YL-A8SJ-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38d44b16-89f5-4293-842e-0c7da7c23487 5aff2614-4c95-4b26-85c4-4f0a97991d56 g.chr2:96780975_96780977delTCC ENST00000409345.3 - 1 1007_1009 c.912_914delGGA c.(910-915)gaa>ga p.EE304del NM_000682.5 NP_000673.2 P18089 ADA2B_HUMAN adrenoceptor alpha 2B 307 Asp/Glu-rich (acidic). 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) TTCACActcttcctcctcctcct 0.655 3 3 --- --- --- --- DNM1P47 0 broad.mit.edu 37 15 102299886 102299887 + RNA INS - - G TCGA-YL-A8SJ-01B-11D-A377-08 TCGA-YL-A8SJ-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38d44b16-89f5-4293-842e-0c7da7c23487 5aff2614-4c95-4b26-85c4-4f0a97991d56 g.chr15:102299886_102299887insG ENST00000561463.1 + 0 7932_7933 AACCTGTACTCGCGTCGGAACC 0.589 3 5 --- --- --- --- TP53 7157 broad.mit.edu 37 17 7578435 7578436 + Frame_Shift_Ins INS - - AGCA TCGA-YL-A8SJ-01B-11D-A377-08 TCGA-YL-A8SJ-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38d44b16-89f5-4293-842e-0c7da7c23487 5aff2614-4c95-4b26-85c4-4f0a97991d56 g.chr17:7578435_7578436insAGCA ENST00000420246.2 - 5 626_627 c.494_495insTGCT c.(493-495)ctcfs p.L165fs TP53_ENST00000574684.1_5'UTR|TP53_ENST00000269305.4_Frame_Shift_Ins_p.L165fs|TP53_ENST00000413465.2_Frame_Shift_Ins_p.L165fs|TP53_ENST00000359597.4_Frame_Shift_Ins_p.L165fs|TP53_ENST00000455263.2_Frame_Shift_Ins_p.L165fs|TP53_ENST00000445888.2_Frame_Shift_Ins_p.L165fs NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 165 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. Q -> E (in sporadic cancers; somatic mutation).|Q -> H (in a sporadic cancer; somatic mutation).|Q -> L (in sporadic cancers; somatic mutation).|Q -> P (in sporadic cancers; somatic mutation).|Q -> R (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.Q165L(3)|p.Q165R(2)|p.S166fs*15(2)|p.Q165P(2)|p.K164fs*3(2)|p.V157_C176del20(1)|p.Q165fs*4(1)|p.Q165del(1)|p.Y163fs*1(1)|p.Y163_Q165delYKQ(1)|p.P151_V173del23(1)|p.K164fs*5(1)|p.Q165_M169delQSQHM(1)|p.Y163fs*14(1)|p.S149fs*72(1)|p.A159_Q167delAMAIYKQSQ(1)|p.Q165H(1)|p.Q165fs*16(1)|p.Q165_S166insXXX(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) TGTGCTGTGACTGCTTGTAGAT 0.629 111 """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) 16 46 --- --- --- --- DGKK 139189 broad.mit.edu 37 X 50113411 50113412 + RNA INS - - G TCGA-YL-A8SJ-01B-11D-A377-08 TCGA-YL-A8SJ-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38d44b16-89f5-4293-842e-0c7da7c23487 5aff2614-4c95-4b26-85c4-4f0a97991d56 g.chrX:50113411_50113412insG ENST00000376025.2 - 0 3795 Q5KSL6 DGKK_HUMAN diacylglycerol kinase, kappa activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress cytoplasm|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 Ovarian(276;0.236) CCTCTGCCTGTGGGGGAGACTT 0.490 2 4 --- --- --- --- RNA5-8SP6 0 broad.mit.edu 37 Y 10037863 10037863 + RNA DEL C C - TCGA-YL-A8SJ-01B-11D-A377-08 TCGA-YL-A8SJ-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38d44b16-89f5-4293-842e-0c7da7c23487 5aff2614-4c95-4b26-85c4-4f0a97991d56 g.chrY:10037863delC ENST00000515896.1 + 0 100 ATCGACACTTCGAACGCACTT 0.552 3 5 --- --- --- ---