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 C1orf159 54991 broad.mit.edu 37 1 1021259 1021259 + Splice_Site SNP T T G TCGA-KC-A7FA-01A-21D-A33T-08 TCGA-KC-A7FA-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b63f37c1-b80c-44ba-9d98-1e621ee926d9 a792ba94-7862-4a44-9d3f-fbc56914f409 g.chr1:1021259T>G ENST00000448924.1 - 8 983 c.552A>C c.(550-552)aaA>aaC p.K184N C1orf159_ENST00000379320.1_Splice_Site_p.K148N|C1orf159_ENST00000437760.1_Splice_Site_p.K148N|C1orf159_ENST00000421241.2_Splice_Site_p.K148N|C1orf159_ENST00000482816.1_5'UTR|C1orf159_ENST00000379339.1_Splice_Site_p.K184N|C1orf159_ENST00000294576.5_Splice_Site_p.K148N|C1orf159_ENST00000379319.1_Splice_Site_p.K148N Q96HA4 CA159_HUMAN chromosome 1 open reading frame 159 184 integral to membrane all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) Epithelial(90;2.96e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.77e-22)|Colorectal(212;6.51e-05)|COAD - Colon adenocarcinoma(227;0.000214)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|Kidney(185;0.00254)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205) GGGAGATACCTTTGTTTCTTC 0.612 4 23 --- --- --- --- SYTL1 84958 broad.mit.edu 37 1 27675577 27675577 + Missense_Mutation SNP G G C TCGA-KC-A7FA-01A-21D-A33T-08 TCGA-KC-A7FA-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b63f37c1-b80c-44ba-9d98-1e621ee926d9 a792ba94-7862-4a44-9d3f-fbc56914f409 g.chr1:27675577G>C ENST00000543823.1 + 5 928 c.466G>C c.(466-468)Gat>Cat p.D156H SYTL1_ENST00000318074.5_Intron|SYTL1_ENST00000490170.1_3'UTR Q8IYJ3 SYTL1_HUMAN synaptotagmin-like 1 156 exocytosis|intracellular protein transport extrinsic to plasma membrane|melanosome|soluble fraction neurexin binding|Rab GTPase binding NS(1)|large_intestine(4)|lung(5)|ovary(1)|urinary_tract(1) 12 Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.0115)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0908)|all_neural(195;0.0966) UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.5e-28)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.0013)|KIRC - Kidney renal clear cell carcinoma(1967;0.00158)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419) TCAGGGACCTGATTTCCCATC 0.592 27 39 --- --- --- --- LY9 4063 broad.mit.edu 37 1 160771695 160771695 + Silent SNP G G A TCGA-KC-A7FA-01A-21D-A33T-08 TCGA-KC-A7FA-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b63f37c1-b80c-44ba-9d98-1e621ee926d9 a792ba94-7862-4a44-9d3f-fbc56914f409 g.chr1:160771695G>A ENST00000368039.2 + 3 571 c.570G>A c.(568-570)gtG>gtA p.V190V LY9_ENST00000368037.5_Intron|LY9_ENST00000392203.4_Intron|LY9_ENST00000368041.2_Intron|LY9_ENST00000263285.6_Intron|LY9_ENST00000368040.1_Intron|LY9_ENST00000471816.1_Intron|LY9_ENST00000341032.4_Intron NM_001033667.2 NP_001028839.1 Q9HBG7 LY9_HUMAN lymphocyte antigen 9 0 Ig-like C2-type 1. cell adhesion|immunoglobulin mediated immune response integral to membrane autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 36 all_cancers(52;2.72e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00737) GTGTGAGCGTGCGGGAGGGCT 0.687 10 79 --- --- --- --- F13B 2165 broad.mit.edu 37 1 197008543 197008543 + Splice_Site SNP T T A TCGA-KC-A7FA-01A-21D-A33T-08 TCGA-KC-A7FA-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b63f37c1-b80c-44ba-9d98-1e621ee926d9 a792ba94-7862-4a44-9d3f-fbc56914f409 g.chr1:197008543T>A ENST00000367412.1 - 12 1996 c.e12-2 NM_001994.2 NP_001985.2 P05160 F13B_HUMAN coagulation factor XIII, B polypeptide blood coagulation extracellular region breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3) 66 GACAGAGTGCTTGAGGGGAAA 0.303 4 151 --- --- --- --- SRGAP2 23380 broad.mit.edu 37 1 206610382 206610382 + Silent SNP C C G TCGA-KC-A7FA-01A-21D-A33T-08 TCGA-KC-A7FA-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b63f37c1-b80c-44ba-9d98-1e621ee926d9 a792ba94-7862-4a44-9d3f-fbc56914f409 g.chr1:206610382C>G ENST00000414007.1 + 11 1203 c.1203C>G c.(1201-1203)gcC>gcG p.A401A SRGAP2_ENST00000419187.2_5'UTR O75044 FNBP2_HUMAN SLIT-ROBO Rho GTPase activating protein 2 541 axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|protein binding NS(1)|breast(1)|kidney(1)|lung(1) 4 Breast(84;0.137) TCAAAAATGCCTTTGAGAGAG 0.453 6 93 --- --- --- --- RYR2 6262 broad.mit.edu 37 1 237787069 237787069 + Missense_Mutation SNP A A G TCGA-KC-A7FA-01A-21D-A33T-08 TCGA-KC-A7FA-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b63f37c1-b80c-44ba-9d98-1e621ee926d9 a792ba94-7862-4a44-9d3f-fbc56914f409 g.chr1:237787069A>G ENST00000366574.2 + 39 6238 c.5921A>G c.(5920-5922)aAt>aGt p.N1974S RYR2_ENST00000360064.6_Missense_Mutation_p.N1972S|RYR2_ENST00000542537.1_Missense_Mutation_p.N1958S NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 1974 4 X approximate repeats. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) TTTCAGATCAATATGCTTCTC 0.408 11 12 --- --- --- --- EPT1 85465 broad.mit.edu 37 2 26609300 26609300 + Missense_Mutation SNP G G A TCGA-KC-A7FA-01A-21D-A33T-08 TCGA-KC-A7FA-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b63f37c1-b80c-44ba-9d98-1e621ee926d9 a792ba94-7862-4a44-9d3f-fbc56914f409 g.chr2:26609300G>A ENST00000260585.7 + 9 1110 c.991G>A c.(991-993)Gtc>Atc p.V331I NM_033505.2 NP_277040.1 Q9C0D9 EPT1_HUMAN ethanolaminephosphotransferase 1 (CDP-ethanolamine-specific) 331 phospholipid biosynthetic process integral to membrane ethanolaminephosphotransferase activity|metal ion binding CTTCTTGGTTGTCTTAGTGGT 0.423 22 44 --- --- --- --- RAB6C 84084 broad.mit.edu 37 2 130738003 130738003 + Silent SNP A A G TCGA-KC-A7FA-01A-21D-A33T-08 TCGA-KC-A7FA-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b63f37c1-b80c-44ba-9d98-1e621ee926d9 a792ba94-7862-4a44-9d3f-fbc56914f409 g.chr2:130738003A>G ENST00000410061.2 + 1 769 c.315A>G c.(313-315)acA>acG p.T105T AC079776.7_ENST00000412425.1_RNA NM_032144.2 NP_115520.2 Q9H0N0 RAB6C_HUMAN RAB6C, member RAS oncogene family 105 protein transport|response to drug|small GTPase mediated signal transduction GTP binding|GTPase activity large_intestine(2)|lung(1)|skin(1)|urinary_tract(1) 5 Colorectal(110;0.1) AGCAAACTACAAAGTGGATTG 0.428 6 121 --- --- --- --- ITGB6 3694 broad.mit.edu 37 2 161030498 161030498 + Missense_Mutation SNP G G A TCGA-KC-A7FA-01A-21D-A33T-08 TCGA-KC-A7FA-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b63f37c1-b80c-44ba-9d98-1e621ee926d9 a792ba94-7862-4a44-9d3f-fbc56914f409 g.chr2:161030498G>A ENST00000283249.2 - 5 983 c.746C>T c.(745-747)gCt>gTt p.A249V ITGB6_ENST00000409872.1_Missense_Mutation_p.A249V|ITGB6_ENST00000485635.1_5'UTR|ITGB6_ENST00000428609.2_Missense_Mutation_p.A207V|ITGB6_ENST00000409967.2_Missense_Mutation_p.A249V NM_001282353.1|NM_001282354.1|NM_001282388.1 NP_001269282.1|NP_001269283.1|NP_001269317.1 P18564 ITB6_HUMAN integrin, beta 6 249 VWFA. cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|multicellular organismal development integrin complex receptor activity breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 23 ACACACAGCAGCTTGCATAAT 0.333 8 50 --- --- --- --- ADAMTS9 56999 broad.mit.edu 37 3 64526848 64526848 + Missense_Mutation SNP C C A TCGA-KC-A7FA-01A-21D-A33T-08 TCGA-KC-A7FA-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b63f37c1-b80c-44ba-9d98-1e621ee926d9 a792ba94-7862-4a44-9d3f-fbc56914f409 g.chr3:64526848C>A ENST00000498707.1 - 36 5786 c.5444G>T c.(5443-5445)tGt>tTt p.C1815F ADAMTS9_ENST00000295903.4_Missense_Mutation_p.C1787F NM_182920.1 NP_891550.1 Q9P2N4 ATS9_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 9 1815 GON. glycoprotein catabolic process|multicellular organismal development|proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 100 Lung NSC(201;0.00682) BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221) ATCCTTCCGACATTGGCAGTC 0.453 36 47 --- --- --- --- LRIG1 26018 broad.mit.edu 37 3 66502033 66502033 + Silent SNP T T C TCGA-KC-A7FA-01A-21D-A33T-08 TCGA-KC-A7FA-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b63f37c1-b80c-44ba-9d98-1e621ee926d9 a792ba94-7862-4a44-9d3f-fbc56914f409 g.chr3:66502033T>C ENST00000383703.3 - 3 918 c.315A>G c.(313-315)acA>acG p.T105T LRIG1_ENST00000273261.3_Silent_p.T105T Q96JA1 LRIG1_HUMAN leucine-rich repeats and immunoglobulin-like domains 1 105 integral to membrane NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1) 42 Lung NSC(201;0.0101) BRCA - Breast invasive adenocarcinoma(55;0.00047) ATGGTACCGCTGTCAACTCAT 0.443 41 50 --- --- --- --- MAP3K13 9175 broad.mit.edu 37 3 185146622 185146622 + Missense_Mutation SNP C C T TCGA-KC-A7FA-01A-21D-A33T-08 TCGA-KC-A7FA-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b63f37c1-b80c-44ba-9d98-1e621ee926d9 a792ba94-7862-4a44-9d3f-fbc56914f409 g.chr3:185146622C>T ENST00000265026.3 + 2 587 c.253C>T c.(253-255)Ctt>Ttt p.L85F MAP3K13_ENST00000535426.1_Intron|MAP3K13_ENST00000446828.1_Intron|MAP3K13_ENST00000443863.1_Intron|MAP3K13_ENST00000424227.1_Missense_Mutation_p.L85F NM_004721.4 NP_004712.1 O43283 M3K13_HUMAN mitogen-activated protein kinase kinase kinase 13 85 activation of MAPKK activity|JNK cascade|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation cytoplasm|membrane|membrane fraction ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 54 all_cancers(143;7.21e-11)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;1.93e-20) GAACAGCGTTCTTCAGCTAAG 0.532 15 22 --- --- --- --- SFRP2 6423 broad.mit.edu 37 4 154709764 154709764 + Missense_Mutation SNP T T C TCGA-KC-A7FA-01A-21D-A33T-08 TCGA-KC-A7FA-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b63f37c1-b80c-44ba-9d98-1e621ee926d9 a792ba94-7862-4a44-9d3f-fbc56914f409 g.chr4:154709764T>C ENST00000274063.4 - 1 508 c.224A>G c.(223-225)cAg>cGg p.Q75R NM_003013.2 NP_003004.1 Q96HF1 SFRP2_HUMAN secreted frizzled-related protein 2 75 FZ. brain development|cardiac left ventricle morphogenesis|cell-cell signaling|dermatome development|hemopoietic stem cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell growth|negative regulation of cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of transcription, DNA-dependent|outflow tract morphogenesis|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell adhesion mediated by integrin|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of fat cell differentiation|positive regulation of peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of stem cell division|sclerotome development cytoplasm|extracellular matrix|extracellular space|plasma membrane fibronectin binding|integrin binding|PDZ domain binding|receptor agonist activity|Wnt receptor activity|Wnt-protein binding breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(1)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 16 all_hematologic(180;0.093) Renal(120;0.117) AGCGCCGGCCTGCTCCAGCAC 0.632 21 75 --- --- --- --- PPAP2A 8611 broad.mit.edu 37 5 54786858 54786858 + Missense_Mutation SNP T T C TCGA-KC-A7FA-01A-21D-A33T-08 TCGA-KC-A7FA-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b63f37c1-b80c-44ba-9d98-1e621ee926d9 a792ba94-7862-4a44-9d3f-fbc56914f409 g.chr5:54786858T>C ENST00000264775.5 - 2 482 c.143A>G c.(142-144)tAt>tGt p.Y48C PPAP2A_ENST00000515132.1_Intron|PPAP2A_ENST00000307259.8_Intron NM_176895.1 NP_795714.1 O14494 LPP1_HUMAN phosphatidic acid phosphatase type 2A 47 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|androgen receptor signaling pathway|germ cell migration|negative regulation of cell proliferation|phospholipid dephosphorylation|regulation of lipid metabolic process|sphingolipid metabolic process integral to plasma membrane|membrane fraction phosphatidate phosphatase activity|sphingosine-1-phosphate phosphatase activity breast(2)|endometrium(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1) 9 Lung NSC(810;4.08e-05)|Prostate(74;0.0181)|Breast(144;0.0544) ATGGTACGGATAGTTGATGCT 0.443 3 38 --- --- --- --- TIMD4 91937 broad.mit.edu 37 5 156381616 156381616 + Silent SNP G G A TCGA-KC-A7FA-01A-21D-A33T-08 TCGA-KC-A7FA-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b63f37c1-b80c-44ba-9d98-1e621ee926d9 a792ba94-7862-4a44-9d3f-fbc56914f409 g.chr5:156381616G>A ENST00000274532.2 - 2 266 c.210C>T c.(208-210)cgC>cgT p.R70R TIMD4_ENST00000407087.3_Silent_p.R70R NM_138379.2 NP_612388.2 Q96H15 TIMD4_HUMAN T-cell immunoglobulin and mucin domain containing 4 70 Ig-like V-type. integral to membrane NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2) 37 Renal(175;0.00488) Medulloblastoma(196;0.0523)|all_neural(177;0.21) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) TTCCATCAGTGCGGATGAGCG 0.527 14 32 --- --- --- --- FILIP1 27145 broad.mit.edu 37 6 76022274 76022274 + Missense_Mutation SNP C C A TCGA-KC-A7FA-01A-21D-A33T-08 TCGA-KC-A7FA-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b63f37c1-b80c-44ba-9d98-1e621ee926d9 a792ba94-7862-4a44-9d3f-fbc56914f409 g.chr6:76022274C>A ENST00000393004.2 - 5 3495 c.3274G>T c.(3274-3276)Gtc>Ttc p.V1092F FILIP1_ENST00000370020.1_Missense_Mutation_p.V993F|FILIP1_ENST00000237172.7_Missense_Mutation_p.V1092F|FILIP1_ENST00000498523.1_5'UTR Q7Z7B0 FLIP1_HUMAN filamin A interacting protein 1 1092 breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4) 80 ACTGGTCGGACAGTAATAACT 0.498 30 79 --- --- --- --- AUTS2 26053 broad.mit.edu 37 7 70228266 70228266 + Nonsense_Mutation SNP C C T TCGA-KC-A7FA-01A-21D-A33T-08 TCGA-KC-A7FA-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b63f37c1-b80c-44ba-9d98-1e621ee926d9 a792ba94-7862-4a44-9d3f-fbc56914f409 g.chr7:70228266C>T ENST00000342771.4 + 7 1474 c.1153C>T c.(1153-1155)Cag>Tag p.Q385* AUTS2_ENST00000406775.2_Nonsense_Mutation_p.Q385* NM_015570.2 NP_056385.1 Q8WXX7 AUTS2_HUMAN autism susceptibility candidate 2 385 Ser-rich. breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1) 50 all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093) LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186) CCCCTCTGCTCAGAGCCTCTC 0.612 21 36 --- --- --- --- LRP12 29967 broad.mit.edu 37 8 105509980 105509980 + Missense_Mutation SNP T T G TCGA-KC-A7FA-01A-21D-A33T-08 TCGA-KC-A7FA-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b63f37c1-b80c-44ba-9d98-1e621ee926d9 a792ba94-7862-4a44-9d3f-fbc56914f409 g.chr8:105509980T>G ENST00000276654.5 - 5 908 c.800A>C c.(799-801)tAt>tCt p.Y267S LRP12_ENST00000424843.2_Missense_Mutation_p.Y248S NM_013437.4 NP_038465.1 Q9Y561 LRP12_HUMAN low density lipoprotein receptor-related protein 12 267 CUB 2. endocytosis|regulation of growth coated pit|integral to plasma membrane low-density lipoprotein receptor activity|protein binding NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 48 OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229) AAAAGTACCATAAAAATATTT 0.403 17 35 --- --- --- --- APBA1 320 broad.mit.edu 37 9 72131766 72131766 + Nonsense_Mutation SNP G G A TCGA-KC-A7FA-01A-21D-A33T-08 TCGA-KC-A7FA-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b63f37c1-b80c-44ba-9d98-1e621ee926d9 a792ba94-7862-4a44-9d3f-fbc56914f409 g.chr9:72131766G>A ENST00000265381.4 - 2 583 c.361C>T c.(361-363)Cag>Tag p.Q121* NM_001163.3 NP_001154.2 Q02410 APBA1_HUMAN amyloid beta (A4) precursor protein-binding, family A, member 1 121 axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission synaptic vesicle endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3) 37 GGCCGGTACTGCACAGCATAG 0.731 11 11 --- --- --- --- PTPDC1 138639 broad.mit.edu 37 9 96860386 96860386 + Nonsense_Mutation SNP C C G TCGA-KC-A7FA-01A-21D-A33T-08 TCGA-KC-A7FA-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b63f37c1-b80c-44ba-9d98-1e621ee926d9 a792ba94-7862-4a44-9d3f-fbc56914f409 g.chr9:96860386C>G ENST00000375360.3 + 7 1716 c.1376C>G c.(1375-1377)tCa>tGa p.S459* PTPDC1_ENST00000288976.3_Nonsense_Mutation_p.S511* NM_001253830.1|NM_177995.2 NP_001240759.1|NP_818931.1 A2A3K4 PTPC1_HUMAN protein tyrosine phosphatase domain containing 1 459 protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 32 TGGAGTCAGTCAAAGTTTGGA 0.473 7 29 --- --- --- --- SMC2 10592 broad.mit.edu 37 9 106882359 106882359 + Missense_Mutation SNP A A G TCGA-KC-A7FA-01A-21D-A33T-08 TCGA-KC-A7FA-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b63f37c1-b80c-44ba-9d98-1e621ee926d9 a792ba94-7862-4a44-9d3f-fbc56914f409 g.chr9:106882359A>G ENST00000286398.7 + 16 2336 c.2048A>G c.(2047-2049)gAt>gGt p.D683G SMC2_ENST00000374787.3_Missense_Mutation_p.D683G|SMC2_ENST00000303219.8_Missense_Mutation_p.D683G|SMC2_ENST00000374793.3_Missense_Mutation_p.D683G NM_001042551.1|NM_001265602.1|NM_006444.2 NP_001036016.1|NP_001252531.1|NP_006435.2 O95347 SMC2_HUMAN structural maintenance of chromosomes 2 683 cell division|mitotic chromosome condensation|symbiosis, encompassing mutualism through parasitism condensin complex|cytoplasm|nuclear chromosome ATP binding|protein heterodimerization activity breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2) 48 GAACTCAAAGATGTTCAGGAT 0.413 8 110 --- --- --- --- SPAG6 9576 broad.mit.edu 37 10 22657474 22657474 + Missense_Mutation SNP T T G TCGA-KC-A7FA-01A-21D-A33T-08 TCGA-KC-A7FA-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b63f37c1-b80c-44ba-9d98-1e621ee926d9 a792ba94-7862-4a44-9d3f-fbc56914f409 g.chr10:22657474T>G ENST00000376603.2 + 4 709 c.567T>G c.(565-567)caT>caG p.H189Q SPAG6_ENST00000313311.6_Missense_Mutation_p.H113Q|RP11-301N24.3_ENST00000422675.1_RNA|SPAG6_ENST00000538630.1_Missense_Mutation_p.H88Q|SPAG6_ENST00000376601.1_Intron|SPAG6_ENST00000376624.3_Missense_Mutation_p.H113Q O75602 SPAG6_HUMAN sperm associated antigen 6 113 cell projection organization|spermatid development axoneme|cilium|cytoplasm|flagellum|microtubule binding breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|prostate(1)|skin(2) 27 TTGGTAAACATTCTCCCCAGC 0.458 30 42 --- --- --- --- JMJD1C 221037 broad.mit.edu 37 10 64968481 64968481 + Missense_Mutation SNP C C G TCGA-KC-A7FA-01A-21D-A33T-08 TCGA-KC-A7FA-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b63f37c1-b80c-44ba-9d98-1e621ee926d9 a792ba94-7862-4a44-9d3f-fbc56914f409 g.chr10:64968481C>G ENST00000399262.2 - 10 3166 c.2948G>C c.(2947-2949)aGg>aCg p.R983T JMJD1C_ENST00000399251.1_Missense_Mutation_p.R764T|JMJD1C_ENST00000542921.1_Missense_Mutation_p.R801T|JMJD1C_ENST00000402544.1_Missense_Mutation_p.R764T NM_032776.1 NP_116165.1 Q15652 JHD2C_HUMAN jumonji domain containing 1C 983 blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3) 77 Prostate(12;0.0119)|all_hematologic(501;0.191) AGTCTGTGACCTATTTAGATC 0.393 33 45 --- --- --- --- ECD 11319 broad.mit.edu 37 10 74916082 74916082 + Missense_Mutation SNP T T G TCGA-KC-A7FA-01A-21D-A33T-08 TCGA-KC-A7FA-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b63f37c1-b80c-44ba-9d98-1e621ee926d9 a792ba94-7862-4a44-9d3f-fbc56914f409 g.chr10:74916082T>G ENST00000372979.4 - 5 747 c.541A>C c.(541-543)Ata>Cta p.I181L ECD_ENST00000454759.2_Missense_Mutation_p.I181L|ECD_ENST00000430082.2_Missense_Mutation_p.I181L NM_007265.2 NP_009196.1 O95905 SGT1_HUMAN ecdysoneless homolog (Drosophila) 181 regulation of glycolysis|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter cytoplasm|nucleus transcription coactivator activity breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 Prostate(51;0.0119) GAAGCAAGTATTTTTTCTGAA 0.403 11 72 --- --- --- --- DPYSL4 10570 broad.mit.edu 37 10 134016313 134016313 + Missense_Mutation SNP T T G TCGA-KC-A7FA-01A-21D-A33T-08 TCGA-KC-A7FA-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b63f37c1-b80c-44ba-9d98-1e621ee926d9 a792ba94-7862-4a44-9d3f-fbc56914f409 g.chr10:134016313T>G ENST00000338492.4 + 12 1609 c.1445T>G c.(1444-1446)aTc>aGc p.I482S DPYSL4_ENST00000368629.1_Intron|DPYSL4_ENST00000368627.1_Intron NM_006426.2 NP_006417.2 O14531 DPYL4_HUMAN dihydropyrimidinase-like 4 482 axon guidance|pyrimidine base catabolic process cytosol hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 32 all_cancers(35;4.33e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19) OV - Ovarian serous cystadenocarcinoma(35;7.21e-05)|Epithelial(32;8.01e-05)|all cancers(32;9.29e-05)|BRCA - Breast invasive adenocarcinoma(275;0.206) TACAAGAGGATCAAAGCTCGC 0.632 22 45 --- --- --- --- OVCH1 341350 broad.mit.edu 37 12 29649132 29649132 + Missense_Mutation SNP C C A TCGA-KC-A7FA-01A-21D-A33T-08 TCGA-KC-A7FA-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b63f37c1-b80c-44ba-9d98-1e621ee926d9 a792ba94-7862-4a44-9d3f-fbc56914f409 g.chr12:29649132C>A ENST00000318184.5 - 3 262 c.263G>T c.(262-264)tGc>tTc p.C88F NM_183378.2 NP_899234.2 Q7RTY7 OVCH1_HUMAN ovochymase 1 88 Peptidase S1 1. proteolysis extracellular region metal ion binding|serine-type endopeptidase activity NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3) 92 Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155) GCTGTCCAGGCAGTGTGCTGC 0.463 3 2 --- --- --- --- FREM2 341640 broad.mit.edu 37 13 39264479 39264479 + Missense_Mutation SNP C C T TCGA-KC-A7FA-01A-21D-A33T-08 TCGA-KC-A7FA-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b63f37c1-b80c-44ba-9d98-1e621ee926d9 a792ba94-7862-4a44-9d3f-fbc56914f409 g.chr13:39264479C>T ENST00000280481.7 + 1 3214 c.2998C>T c.(2998-3000)Cca>Tca p.P1000S NM_207361.4 NP_997244.3 Q5SZK8 FREM2_HUMAN FRAS1 related extracellular matrix protein 2 1000 cell communication|homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2) 148 Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114) all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312) CAATGGCATTCCAGCAGAGCA 0.438 4 88 --- --- --- --- TRAV26-1 28657 broad.mit.edu 37 14 22592021 22592021 + RNA SNP A A G TCGA-KC-A7FA-01A-21D-A33T-08 TCGA-KC-A7FA-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b63f37c1-b80c-44ba-9d98-1e621ee926d9 a792ba94-7862-4a44-9d3f-fbc56914f409 g.chr14:22592021A>G ENST00000390455.3 + 0 315 AAGAGCTGCAAACCTGCCTTG 0.458 14 78 --- --- --- --- PYGL 5836 broad.mit.edu 37 14 51383369 51383369 + Silent SNP G G C TCGA-KC-A7FA-01A-21D-A33T-08 TCGA-KC-A7FA-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b63f37c1-b80c-44ba-9d98-1e621ee926d9 a792ba94-7862-4a44-9d3f-fbc56914f409 g.chr14:51383369G>C ENST00000216392.7 - 9 1415 c.1083C>G c.(1081-1083)ccC>ccG p.P361P PYGL_ENST00000544180.2_Silent_p.P327P|PYGL_ENST00000532462.1_Silent_p.P361P NM_002863.4 NP_002854.3 P06737 PYGL_HUMAN phosphorylase, glycogen, liver 361 glucose homeostasis|glucose metabolic process|glycogen catabolic process cytosol|soluble fraction AMP binding|ATP binding|bile acid binding|drug binding|glucose binding|glycogen phosphorylase activity|protein homodimerization activity|purine base binding|pyridoxal phosphate binding NS(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(3) 25 all_epithelial(31;0.00825)|Breast(41;0.148) Adenosine monophosphate(DB00131)|Pyridoxal Phosphate(DB00114)|Riboflavin(DB00140) CCTTGGACCAGGGCAGTTTTT 0.453 11 32 --- --- --- --- MEIS2 4212 broad.mit.edu 37 15 37388558 37388558 + Missense_Mutation SNP C C G TCGA-KC-A7FA-01A-21D-A33T-08 TCGA-KC-A7FA-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b63f37c1-b80c-44ba-9d98-1e621ee926d9 a792ba94-7862-4a44-9d3f-fbc56914f409 g.chr15:37388558C>G ENST00000338564.5 - 4 765 c.319G>C c.(319-321)Gga>Cga p.G107R MEIS2_ENST00000561208.1_Missense_Mutation_p.G107R|MEIS2_ENST00000444725.1_Missense_Mutation_p.G107R|MEIS2_ENST00000397620.2_Missense_Mutation_p.G19R|MEIS2_ENST00000219869.9_Intron|MEIS2_ENST00000557796.2_Missense_Mutation_p.G94R|MEIS2_ENST00000382766.2_Missense_Mutation_p.G107R|MEIS2_ENST00000397624.3_Missense_Mutation_p.G19R|MEIS2_ENST00000424352.2_Missense_Mutation_p.G107R|MEIS2_ENST00000559085.1_Missense_Mutation_p.G94R|MEIS2_ENST00000559561.1_Missense_Mutation_p.G107R|MEIS2_ENST00000340545.5_Missense_Mutation_p.G94R NM_001220482.1 NP_001207411.1 O14770 MEIS2_HUMAN Meis homeobox 2 107 negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 36 all_epithelial(112;9.77e-14)|Lung NSC(122;1.42e-09)|all_lung(180;2.2e-08)|Ovarian(310;0.134)|Melanoma(134;0.155) all cancers(64;9.33e-21)|GBM - Glioblastoma multiforme(113;1.71e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0288) CCAGCCACTCCAGGTTCCCGG 0.612 8 33 --- --- --- --- DNM1P46 196968 broad.mit.edu 37 15 100331760 100331760 + RNA SNP G G A TCGA-KC-A7FA-01A-21D-A33T-08 TCGA-KC-A7FA-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b63f37c1-b80c-44ba-9d98-1e621ee926d9 a792ba94-7862-4a44-9d3f-fbc56914f409 g.chr15:100331760G>A ENST00000341853.1 - 0 2431 NR_003260.1 CCCCACAGGAGATAGAGGAGG 0.627 12 21 --- --- --- --- TP53 7157 broad.mit.edu 37 17 7576851 7576851 + Splice_Site SNP A A C TCGA-KC-A7FA-01A-21D-A33T-08 TCGA-KC-A7FA-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b63f37c1-b80c-44ba-9d98-1e621ee926d9 a792ba94-7862-4a44-9d3f-fbc56914f409 g.chr17:7576851A>C ENST00000420246.2 - 9 1126 c.e9+1 TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000269305.4_Splice_Site|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000413465.2_Intron NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 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.?(12)|p.0?(8)|p.I332fs*49(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) AAGACTTAGTACCTGAAGGGT 0.463 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 13 13 --- --- --- --- SIN3B 23309 broad.mit.edu 37 19 16962337 16962337 + Missense_Mutation SNP C C T TCGA-KC-A7FA-01A-21D-A33T-08 TCGA-KC-A7FA-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b63f37c1-b80c-44ba-9d98-1e621ee926d9 a792ba94-7862-4a44-9d3f-fbc56914f409 g.chr19:16962337C>T ENST00000379803.1 + 6 855 c.841C>T c.(841-843)Ccc>Tcc p.P281S SIN3B_ENST00000596802.1_Missense_Mutation_p.P281S|SIN3B_ENST00000248054.5_Missense_Mutation_p.P281S NM_015260.2 NP_056075.1 O75182 SIN3B_HUMAN SIN3 transcription regulator family member B 281 cellular lipid metabolic process|transcription, DNA-dependent nucleoplasm protein binding endometrium(4)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 26 CGTGTCTGCACCCGCCAAGGT 0.677 13 31 --- --- --- --- AKT2 208 broad.mit.edu 37 19 40745988 40745988 + Silent SNP G G A TCGA-KC-A7FA-01A-21D-A33T-08 TCGA-KC-A7FA-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b63f37c1-b80c-44ba-9d98-1e621ee926d9 a792ba94-7862-4a44-9d3f-fbc56914f409 g.chr19:40745988G>A ENST00000392038.2 - 7 901 c.603C>T c.(601-603)agC>agT p.S201S AKT2_ENST00000311278.6_Silent_p.S201S|AKT2_ENST00000579047.1_Silent_p.S139S|AKT2_ENST00000424901.1_Silent_p.S201S NM_001243027.1|NM_001243028.1|NM_001626.4 NP_001229956.1|NP_001229957.1|NP_001617.1 P31751 AKT2_HUMAN v-akt murine thymoma viral oncogene homolog 2 201 Protein kinase. insulin receptor signaling pathway|negative regulation of plasma membrane long-chain fatty acid transport|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process cytosol|nucleus ATP binding|protein binding|protein serine/threonine kinase activity breast(1)|cervix(1)|kidney(3)|large_intestine(9)|lung(10)|prostate(2)|skin(1) 27 Lung(22;0.000499) GGAGGACCCGGCTCTCGGTGA 0.632 A """ovarian, pancreatic """ 7 169 --- --- --- --- RSPH3 83861 broad.mit.edu 37 6 159420666 159420667 + Frame_Shift_Ins INS - - T TCGA-KC-A7FA-01A-21D-A33T-08 TCGA-KC-A7FA-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b63f37c1-b80c-44ba-9d98-1e621ee926d9 a792ba94-7862-4a44-9d3f-fbc56914f409 g.chr6:159420666_159420667insT ENST00000252655.1 - 1 531_532 c.342_343insA c.(340-345)ttacatfs p.H115fs RSPH3_ENST00000297262.3_Frame_Shift_Ins_p.H115fs|RSPH3_ENST00000367069.2_5'UTR|RP1-111C20.4_ENST00000607391.1_RNA|RSPH3_ENST00000449822.1_5'UTR NM_031924.4 NP_114130.3 Q86UC2 RSPH3_HUMAN radial spoke 3 homolog (Chlamydomonas) 115 endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|skin(1)|stomach(7) 23 Breast(66;0.00519)|Ovarian(120;0.123) OV - Ovarian serous cystadenocarcinoma(65;2.36e-16)|BRCA - Breast invasive adenocarcinoma(81;5.92e-06) CCGGAGAGATGTAAGTAGTGCC 0.634 33 56 --- --- --- --- KMT2D 8085 broad.mit.edu 37 12 49431090 49431105 + Frame_Shift_Del DEL ACCATAGCCATGGATG ACCATAGCCATGGATG - rs80149580 by1000genomes TCGA-KC-A7FA-01A-21D-A33T-08 TCGA-KC-A7FA-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b63f37c1-b80c-44ba-9d98-1e621ee926d9 a792ba94-7862-4a44-9d3f-fbc56914f409 g.chr12:49431090_49431105delACCATAGCCATGGATG ENST00000301067.7 - 34 10033_10048 c.10034_10049delCATCCATGGCTATGGT c.(10033-10050)ccatccatggctatggtgfs p.PSMAMV3345fs NM_003482.3 NP_003473.3 lysine (K)-specific methyltransferase 2D p.M3079T(1) TTGATTGGACACCATAGCCATGGATGGAGCCAGGCG 0.616 9 17 --- --- --- ---