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 G6PC2 57818 broad.mit.edu 37 2 169764282 169764282 + Missense_Mutation SNP C C T TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr2:169764282C>T ENST00000375363.3 + 5 853 c.761C>T c.(760-762)aCg>aTg p.T254M G6PC2_ENST00000461586.1_3'UTR|G6PC2_ENST00000421979.1_3'UTR|SPC25_ENST00000472216.2_Intron NM_021176.2 NP_066999.1 Q9NQR9 G6PC2_HUMAN glucose-6-phosphatase, catalytic, 2 254 gluconeogenesis|glucose homeostasis|glucose transport|regulation of insulin secretion|transmembrane transport endoplasmic reticulum membrane|integral to membrane glucose-6-phosphatase activity breast(1)|endometrium(1)|large_intestine(1)|lung(5)|pancreas(1)|prostate(1)|skin(1)|stomach(2) 13 ATTGACACCACGCCTTTTGCT 0.522000 17 46 0 0 1 0 0 MRPS30 10884 broad.mit.edu 37 5 44809523 44809523 + Missense_Mutation SNP G G T TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr5:44809523G>T ENST00000507110.1 + 1 497 c.459G>T c.(457-459)gaG>gaT p.E153D NM_016640.3 NP_057724.2 Q9NP92 RT30_HUMAN mitochondrial ribosomal protein S30 153 apoptosis|translation mitochondrion|ribosome structural constituent of ribosome central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(11)|prostate(1) 20 Lung NSC(6;8.08e-07) TGCTGCAGGAGCACTTCTACC 0.692000 8 11 0.0477658 0.0496957 1 1 0 DOC2A 8448 broad.mit.edu 37 16 30020381 30020381 + Missense_Mutation SNP C C G TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr16:30020381C>G ENST00000350119.4 - 5 653 c.463G>C c.(463-465)Gtg>Ctg p.V155L DOC2A_ENST00000564944.1_Missense_Mutation_p.V155L|DOC2A_ENST00000564979.1_Missense_Mutation_p.V155L NM_003586.2 NP_003577.2 Q14183 DOC2A_HUMAN double C2-like domains, alpha 155 C2 1. nervous system development|regulation of calcium ion-dependent exocytosis cell junction|lysosome|synaptic vesicle membrane|synaptosome calcium-dependent phospholipid binding|protein binding|transporter activity central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2) 9 TCATTCCACACGGGATTCAGT 0.567000 7 60 0 0 1 0 0 GATA1 2623 broad.mit.edu 37 X 48652249 48652249 + Missense_Mutation SNP G G T TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chrX:48652249G>T ENST00000376670.3 + 6 1031 c.920G>T c.(919-921)cGc>cTc p.R307L GATA1_ENST00000376665.3_Intron NM_002049.3 NP_002040.1 P15976 GATA1_HUMAN GATA binding protein 1 (globin transcription factor 1) 307 basophil differentiation|eosinophil differentiation|erythrocyte development|megakaryocyte differentiation|platelet aggregation|platelet formation|positive regulation of anti-apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|regulation of glycoprotein biosynthetic process|transcription from RNA polymerase II promoter nuclear membrane|nucleolus|nucleoplasm C2H2 zinc finger domain binding|RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(259)|large_intestine(8)|lung(9)|prostate(1) 283 ACTCGAAACCGCAAGGCATCT 0.587000 """Mis, F""" megakaryoblastic leukemia of Downs Syndrome 3 13 0.00024832 0.000276508 1 1 0 MT-ND5 4540 broad.mit.edu 37 MT 13463 13463 + Missense_Mutation SNP G G A TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chrM:13463G>A ENST00000361567.2 + 1 1127 c.1127G>A c.(1126-1128)gGc>gAc p.G376D P03915 NU5M_HUMAN mitochondrially encoded NADH dehydrogenase 5 376 mitochondrial electron transport, NADH to ubiquinone|transport integral to membrane|mitochondrial respiratory chain complex I NADH dehydrogenase (ubiquinone) activity breast(4)|endometrium(29)|kidney(33)|pancreas(1)|prostate(7) 74 NADH(DB00157) CCTCACCATTGGCAGCCTAGC 0.453000 8 3 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9067611 9067611 + Missense_Mutation SNP G G T TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr19:9067611G>T ENST00000397910.4 - 3 20038 c.19835C>A c.(19834-19836)gCc>gAc p.A6612D NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 6614 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TTCTGAGTAGGCTGGGACAGA 0.443000 49 87 2.82306e-37 4.65241e-37 1 1 0 LINC01420 550643 broad.mit.edu 37 X 56763620 56763620 + RNA SNP G G T TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chrX:56763620G>T ENST00000374922.4 + 0 468 NR_015367.2 AAAATTGTTTGTTTCAAGTTT 0.323000 3 16 0.115264 0.118722 1 1 0 CABYR 26256 broad.mit.edu 37 18 21736900 21736900 + Missense_Mutation SNP C C A TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr18:21736900C>A ENST00000399481.2 + 2 1293 c.1141C>A c.(1141-1143)Ctt>Att p.L381I CABYR_ENST00000399496.3_Intron|CABYR_ENST00000399499.1_Intron|CABYR_ENST00000581397.1_Intron|CABYR_ENST00000327201.6_Intron|CABYR_ENST00000415309.2_Intron O75952 CABYR_HUMAN calcium binding tyrosine-(Y)-phosphorylation regulated 479 ciliary or flagellar motility|signal transduction|sperm capacitation cytoplasm|cytoskeleton|flagellum|motile cilium|nucleus calcium ion binding|cAMP-dependent protein kinase regulator activity|enzyme binding|protein heterodimerization activity|SH3 domain binding breast(1)|endometrium(2)|large_intestine(4)|lung(4) 11 all_cancers(21;9.13e-05)|all_epithelial(16;5.49e-07)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0305)|Ovarian(20;0.17) TCCAGAAGGCCTTACTGCACC 0.468000 14 26 6.31663e-08 7.69956e-08 1 1 0 MAMLD1 10046 broad.mit.edu 37 X 149631068 149631068 + Missense_Mutation SNP G G T TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chrX:149631068G>T ENST00000370401.2 + 3 437 c.127G>T c.(127-129)Gat>Tat p.D43Y MAMLD1_ENST00000262858.5_Missense_Mutation_p.D43Y|MAMLD1_ENST00000426613.2_Intron|MAMLD1_ENST00000468306.1_Intron|MAMLD1_ENST00000432680.2_Intron Q13495 MAMD1_HUMAN mastermind-like domain containing 1 43 male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2) 37 Acute lymphoblastic leukemia(192;6.56e-05) GGAGGAAGAAGATTTATCTTT 0.483000 12 46 1.45105e-14 2.13512e-14 1 1 0 CSMD3 114788 broad.mit.edu 37 8 113237134 113237134 + Nonsense_Mutation SNP C C A TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr8:113237134C>A ENST00000297405.5 - 71 11234 c.10990G>T c.(10990-10992)Gga>Tga p.G3664* CSMD3_ENST00000455883.2_Nonsense_Mutation_p.G3495*|CSMD3_ENST00000343508.3_Nonsense_Mutation_p.G3624*|CSMD3_ENST00000352409.3_Nonsense_Mutation_p.G3594* NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 3664 integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 ACTGAACATCCTGTATACTGT 0.403000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 13 191 1.52009e-12 2.15958e-12 1 1 0 FLG 2312 broad.mit.edu 37 1 152279739 152279739 + Silent SNP G G A TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr1:152279739G>A ENST00000368799.1 - 3 7658 c.7623C>T c.(7621-7623)gcC>gcT p.A2541A FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 2541 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CAGAGCTGTCGGCCCGAGAGG 0.582000 Ichthyosis 8 392 0 0 1 0 0 NFATC2 4773 broad.mit.edu 37 20 50139803 50139803 + Missense_Mutation SNP C C A rs145325613 byFrequency TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr20:50139803C>A ENST00000371564.3 - 2 1196 c.977G>T c.(976-978)aGc>aTc p.S326I NFATC2_ENST00000396009.3_Missense_Mutation_p.S326I|NFATC2_ENST00000414705.1_Missense_Mutation_p.S306I NM_001258296.1|NM_012340.4 NP_001245225.1|NP_036472.2 Q13469 NFAC2_HUMAN nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2 326 B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug actin cytoskeleton|nucleus|plasma membrane protein binding|sequence-specific DNA binding transcription factor activity p.S326N(1) EWSR1/NFATC2(9) breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1) 53 Hepatocellular(150;0.248) GGGGTCAGGGCTGGTCTTCCA 0.692000 17 37 5.03518e-11 6.7794e-11 1 1 0 DUSP21 63904 broad.mit.edu 37 X 44703617 44703617 + Missense_Mutation SNP G G A TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chrX:44703617G>A ENST00000339042.4 + 1 369 c.239G>A c.(238-240)cGt>cAt p.R80H NM_022076.3 NP_071359.3 Q9H596 DUS21_HUMAN dual specificity phosphatase 21 80 Sufficient for mitochondrial localization (By similarity).|Tyrosine-protein phosphatase. cytoplasm|nucleus MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|skin(3) 19 CGTGACTCGCGTCTCTACGAC 0.537000 15 124 0 0 1 0 0 MAEA 10296 broad.mit.edu 37 4 1321485 1321485 + Missense_Mutation SNP C C G TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr4:1321485C>G ENST00000303400.4 + 5 713 c.650C>G c.(649-651)gCt>gGt p.A217G MAEA_ENST00000452175.2_Missense_Mutation_p.A138G|MAEA_ENST00000505839.1_Missense_Mutation_p.A169G|MAEA_ENST00000264750.6_Missense_Mutation_p.A176G|MAEA_ENST00000505177.2_Missense_Mutation_p.A255G|MAEA_ENST00000514708.1_Intron|MAEA_ENST00000510794.1_Missense_Mutation_p.A216G NM_001017405.1 NP_001017405.1 Q7L5Y9 MAEA_HUMAN macrophage erythroblast attacher 217 cell adhesion|cell cycle|cell division|erythrocyte maturation|negative regulation of myeloid cell apoptosis|regulation of mitotic cell cycle actomyosin contractile ring|integral to plasma membrane|membrane fraction|nuclear matrix|spindle actin binding NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 18 OV - Ovarian serous cystadenocarcinoma(23;0.0201) AGACTGGACGCTGTGAGGTAG 0.602000 13 26 0 0 1 0 0 JADE3 9767 broad.mit.edu 37 X 46913915 46913915 + Missense_Mutation SNP A A G TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chrX:46913915A>G ENST00000218343.4 + 9 1626 c.1328A>G c.(1327-1329)aAt>aGt p.N443S PHF16_ENST00000397189.1_Missense_Mutation_p.N443S NM_014735.3 NP_055550.1 Q92613 JADE3_HUMAN 443 histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation histone acetyltransferase complex zinc ion binding NS(2)|endometrium(8)|kidney(4)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(2) 33 AGTAACTTCAATAAGCCATTA 0.453000 11 39 0 0 1 0 0 SOX7 83595 broad.mit.edu 37 8 10583376 10583376 + Missense_Mutation SNP C C A TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr8:10583376C>A ENST00000304501.1 - 2 1117 c.1039G>T c.(1039-1041)Ggg>Tgg p.G347W SOX7_ENST00000553390.1_Missense_Mutation_p.G399W|SOX7_ENST00000554914.1_Missense_Mutation_p.G399W NM_031439.2 NP_113627.1 Q9BT81 SOX7_HUMAN SRY (sex determining region Y)-box 7 347 Sox C-terminal. endoderm formation|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of caspase activity|regulation of canonical Wnt receptor signaling pathway cytoplasm|nucleus transcription regulatory region DNA binding breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 20 COAD - Colon adenocarcinoma(149;0.0732) GCCATGGCCCCTGTGGCGGAG 0.617000 6 44 0.217242 0.221544 1 1 0 TEX11 56159 broad.mit.edu 37 X 69825332 69825332 + Silent SNP C C A TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chrX:69825332C>A ENST00000395889.2 - 25 2186 c.2031G>T c.(2029-2031)ctG>ctT p.L677L TEX11_ENST00000344304.3_Silent_p.L677L|TEX11_ENST00000374333.2_Silent_p.L662L|TEX11_ENST00000374320.2_Silent_p.L352L NM_001003811.1 NP_001003811.1 Q8IYF3 TEX11_HUMAN testis expressed 11 677 protein binding p.L662L(1) breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(13)|ovary(3)|prostate(3)|skin(3) 48 Renal(35;0.156) TCCGTGCAATCAGAATTACTT 0.388000 8 58 0.00307968 0.00332154 1 1 0 SERPINB3 6317 broad.mit.edu 37 18 61328409 61328409 + Silent SNP G G A TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr18:61328409G>A ENST00000283752.5 - 2 185 c.42C>T c.(40-42)gaC>gaT p.D14D SERPINB3_ENST00000332821.8_Silent_p.D14D|SERPINB11_ENST00000489748.1_RNA NM_006919.2 NP_008850.1 P29508 SPB3_HUMAN serpin peptidase inhibitor, clade B (ovalbumin), member 3 14 regulation of proteolysis cytoplasm|extracellular region protein binding|serine-type endopeptidase inhibitor activity breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2) 36 GTTGGAACAGGTCGAACATGA 0.433000 12 188 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9076071 9076071 + Missense_Mutation SNP A A G TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr19:9076071A>G ENST00000397910.4 - 3 11578 c.11375T>C c.(11374-11376)aTg>aCg p.M3792T NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 3793 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 GCTCCTTGCCATTGCAGCTGG 0.507000 45 65 0 0 1 0 0 CLHC1 130162 broad.mit.edu 37 2 55403124 55403124 + Splice_Site SNP T T G TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr2:55403124T>G ENST00000401408.1 - 13 1910 c.e13-2 CLHC1_ENST00000494539.1_Splice_Site|CLHC1_ENST00000406437.2_Splice_Site|CLHC1_ENST00000407122.1_Splice_Site|CLHC1_ENST00000406076.1_Splice_Site NM_152385.2 NP_689598.2 clathrin heavy chain linker domain containing 1 CTACTGCATCTGTGGGGAAAA 0.303000 16 25 0 0 1 0 0 KRTAP21-2 337978 broad.mit.edu 37 21 32119349 32119349 + Nonsense_Mutation SNP C C A TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr21:32119349C>A ENST00000333892.2 - 1 202 c.172G>T c.(172-174)Gga>Tga p.G58* NM_181617.1 NP_853648.1 Q3LI59 KR212_HUMAN keratin associated protein 21-2 58 intermediate filament lung(4)|skin(2)|upper_aerodigestive_tract(1) 7 cagccatatccacagccagag 0.507000 18 52 1.33834e-09 1.72311e-09 1 1 0 PCDH11X 27328 broad.mit.edu 37 X 91133872 91133872 + Missense_Mutation SNP C C A TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chrX:91133872C>A ENST00000373094.1 + 2 3478 c.2633C>A c.(2632-2634)cCt>cAt p.P878H PCDH11X_ENST00000406881.1_Missense_Mutation_p.P878H|PCDH11X_ENST00000298274.8_Missense_Mutation_p.P878H|PCDH11X_ENST00000373088.1_Missense_Mutation_p.P878H|PCDH11X_ENST00000504220.1_Missense_Mutation_p.P878H|PCDH11X_ENST00000361724.1_Missense_Mutation_p.P878H|PCDH11X_ENST00000373097.1_Missense_Mutation_p.P878H|PCDH11X_ENST00000395337.2_Missense_Mutation_p.P878H|PCDH11X_ENST00000361655.2_Missense_Mutation_p.P878H NM_032968.3 NP_116750.1 Q9BZA7 PC11X_HUMAN protocadherin 11 X-linked 878 homophilic cell adhesion integral to plasma membrane calcium ion binding NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 159 aagCATTCCCCTAAGAACTTG 0.388000 14 35 1.05317e-09 1.36448e-09 1 1 0 GPR45 11250 broad.mit.edu 37 2 105858376 105858376 + Missense_Mutation SNP G G A TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr2:105858376G>A ENST00000258456.1 + 1 177 c.61G>A c.(61-63)Gcc>Acc p.A21T NM_007227.3 NP_009158.3 Q9Y5Y3 GPR45_HUMAN G protein-coupled receptor 45 21 integral to membrane|plasma membrane G-protein coupled receptor activity|protein binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1) 28 CACCAGCAACGCCTCAGACTC 0.602000 39 83 0 0 1 0 0 LTB4R 1241 broad.mit.edu 37 14 24785514 24785514 + Silent SNP C C A TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr14:24785514C>A ENST00000396789.4 + 2 2382 c.657C>A c.(655-657)acC>acA p.T219T LTB4R_ENST00000396782.2_Silent_p.T219T|LTB4R_ENST00000345363.3_Silent_p.T219T NM_181657.3 NP_858043.1 Q15722 LT4R1_HUMAN leukotriene B4 receptor 219 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular component movement|immune response|inflammatory response|muscle contraction integral to plasma membrane nucleotide binding endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|stomach(1) 8 GBM - Glioblastoma multiforme(265;0.018) GCCGCCGCACCGGCCGCCTGG 0.716000 8 24 0.00829132 0.00875903 1 1 0 RNF123 63891 broad.mit.edu 37 3 49758482 49758482 + Missense_Mutation SNP C C G TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr3:49758482C>G ENST00000327697.6 + 38 3912 c.3768C>G c.(3766-3768)atC>atG p.I1256M RNF123_ENST00000433785.1_Missense_Mutation_p.I368M|AMIGO3_ENST00000535833.1_5'UTR|GMPPB_ENST00000480687.1_3'UTR|GMPPB_ENST00000308375.6_3'UTR NM_022064.3 NP_071347.2 Q5XPI4 RN123_HUMAN ring finger protein 123 1256 cytoplasm ligase activity|protein binding|zinc ion binding NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 38 BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255) TCTGCCCCATCTGCTATGCCC 0.607000 5 67 0 0 1 0 0 OPHN1 4983 broad.mit.edu 37 X 67426434 67426434 + Missense_Mutation SNP T T A TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chrX:67426434T>A ENST00000355520.5 - 10 1555 c.914A>T c.(913-915)cAg>cTg p.Q305L OPHN1_ENST00000540071.1_Missense_Mutation_p.Q305L NM_002547.2 NP_002538.1 O60890 OPHN1_HUMAN oligophrenin 1 305 PH. axon guidance|endocytosis|filopodium assembly|small GTPase mediated signal transduction|substrate-dependent cell migration, cell extension axon|cell junction|cytosol|dendritic spine|synapse cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|skin(2) 31 ACCTGGCTTCTGCTCCATAGG 0.408000 17 40 0 0 1 0 0 ZNF235 9310 broad.mit.edu 37 19 44792290 44792290 + Missense_Mutation SNP C C T TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr19:44792290C>T ENST00000291182.4 - 5 1400 c.1298G>A c.(1297-1299)tGt>tAt p.C433Y ZNF235_ENST00000589248.1_Intron|ZNF235_ENST00000589799.1_Intron NM_004234.4 NP_004225.3 Q14590 ZN235_HUMAN zinc finger protein 235 433 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.C433Y(1) NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 29 Prostate(69;0.0352)|all_neural(266;0.116) ACAATCCCCACATTTATATGG 0.418000 18 58 0 0 1 0 0 NLGN4X 57502 broad.mit.edu 37 X 6069327 6069327 + Missense_Mutation SNP G G T TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chrX:6069327G>T ENST00000381095.3 - 2 808 c.181C>A c.(181-183)Ccg>Acg p.P61T NLGN4X_ENST00000381092.1_Missense_Mutation_p.P61T|NLGN4X_ENST00000538097.1_Missense_Mutation_p.P61T|NLGN4X_ENST00000381093.2_Missense_Mutation_p.P61T|NLGN4X_ENST00000275857.6_Missense_Mutation_p.P61T|NLGN4X_ENST00000469740.1_5'UTR NM_181332.1 NP_851849.1 Q8N0W4 NLGNX_HUMAN neuroligin 4, X-linked 61 brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior cell surface|dendrite|integral to plasma membrane|synapse chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1) 81 TTGGGTAACGGTGTTCTTAGG 0.537000 7 92 2.0095e-06 2.3256e-06 1 1 0 JAK2 3717 broad.mit.edu 37 9 5080270 5080270 + Nonsense_Mutation SNP G G T TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr9:5080270G>T ENST00000381652.3 + 17 2667 c.2173G>T c.(2173-2175)Gaa>Taa p.E725* AL161450.1_ENST00000601793.1_Intron|JAK2_ENST00000544510.1_Nonsense_Mutation_p.E576*|JAK2_ENST00000539801.1_Nonsense_Mutation_p.E725* NM_004972.3 NP_004963.1 O60674 JAK2_HUMAN Janus kinase 2 725 Protein kinase 1. actin filament polymerization|activation of caspase activity by protein phosphorylation|activation of JAK2 kinase activity|blood coagulation|cellular component movement|erythrocyte differentiation|interferon-gamma-mediated signaling pathway|interleukin-12-mediated signaling pathway|JAK-STAT cascade involved in growth hormone signaling pathway|mammary gland epithelium development|mesoderm development|negative regulation of cell proliferation|negative regulation of DNA binding|positive regulation of apoptosis|positive regulation of cell-substrate adhesion|positive regulation of growth hormone receptor signaling pathway|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|protein autophosphorylation|regulation of inflammatory response|regulation of interferon-gamma-mediated signaling pathway|response to antibiotic|response to lipopolysaccharide|STAT protein import into nucleus|tumor necrosis factor-mediated signaling pathway|tyrosine phosphorylation of STAT protein caveola|cytoskeleton|cytosol|endomembrane system|nucleus ATP binding|growth hormone receptor binding|heme binding|histone binding|histone kinase activity (H3-Y41 specific)|interleukin-12 receptor binding|non-membrane spanning protein tyrosine kinase activity|protein kinase binding|SH2 domain binding BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)|ETV6/JAK2(11)|PCM1/JAK2(30)|PAX5/JAK2(18) breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(32944)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(4)|skin(2)|urinary_tract(1) 32998 all_hematologic(13;0.137) Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147) GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133) TGAATGCATTGAAAATCCTAA 0.363000 1 """T, Mis, O""" """ETV6, PCM1, BCR""" """ALL, AML, MPD, CML""" Polycythemia Vera, Familial 53 84 1.78197e-24 2.86785e-24 1 1 0 TSIX 9383 broad.mit.edu 37 X 73045778 73045778 + RNA SNP C C A TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chrX:73045778C>A ENST00000604411.1 + 0 33739 XIST_ENST00000429829.1_lincRNA NR_003255.2 ATCTTTAAGCCTAGAGATGGG 0.428000 18 57 1.01871e-10 1.3539e-10 1 1 0 LANCL2 55915 broad.mit.edu 37 7 55468954 55468954 + Missense_Mutation SNP C C T TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr7:55468954C>T ENST00000254770.2 + 5 1344 c.766C>T c.(766-768)Cgg>Tgg p.R256W NM_018697.3 NP_061167.1 Q9NS86 LANC2_HUMAN LanC lantibiotic synthetase component C-like 2 (bacterial) 256 negative regulation of transcription, DNA-dependent|positive regulation of abscisic acid mediated signaling pathway cortical actin cytoskeleton|cytosol|nucleus|plasma membrane ATP binding|catalytic activity|GTP binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4-phosphate binding|phosphatidylinositol-5-phosphate binding breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1) 25 Breast(14;0.0379) Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00128)|Epithelial(13;0.0706) CCAGTGGCACCGGAAGCAGTA 0.438000 16 101 0 0 1 0 0 FYN 2534 broad.mit.edu 37 6 112035607 112035607 + Missense_Mutation SNP C C T TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr6:112035607C>T ENST00000354650.3 - 5 893 c.287G>A c.(286-288)cGg>cAg p.R96Q FYN_ENST00000368682.3_Missense_Mutation_p.R96Q|FYN_ENST00000229470.5_Missense_Mutation_p.R96Q|FYN_ENST00000356013.2_Missense_Mutation_p.R96Q|FYN_ENST00000368678.4_Missense_Mutation_p.R96Q|FYN_ENST00000368667.2_Missense_Mutation_p.R96Q|FYN_ENST00000538466.1_Missense_Mutation_p.R96Q|FYN_ENST00000229471.4_Missense_Mutation_p.R96Q NM_002037.5 NP_002028.1 P06241 FYN_HUMAN FYN oncogene related to SRC, FGR, YES 96 SH3. axon guidance|calcium ion transport|feeding behavior|interspecies interaction between organisms|intracellular protein kinase cascade|learning|leukocyte migration|platelet activation|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|viral reproduction cytosol|endosome|plasma membrane ATP binding|glycoprotein binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(17)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 30 all_cancers(87;1.37e-05)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00125)|Colorectal(196;0.0211) all cancers(137;0.0451)|OV - Ovarian serous cystadenocarcinoma(136;0.0476)|Epithelial(106;0.102) Dasatinib(DB01254) ATCTTCTGTCCGTGCTTCATA 0.403000 9 52 0 0 1 0 0 NPAS3 64067 broad.mit.edu 37 14 34269442 34269442 + Silent SNP C C A TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr14:34269442C>A ENST00000346562.2 + 11 1907 c.1833C>A c.(1831-1833)gcC>gcA p.A611A NPAS3_ENST00000551492.1_Silent_p.A648A|NPAS3_ENST00000548645.1_Silent_p.A613A|NPAS3_ENST00000357798.5_Silent_p.A630A|NPAS3_ENST00000356141.4_Silent_p.A643A NM_001164749.1|NM_001165893.1|NM_022123.2|NM_173159.2 NP_001158221.1|NP_001159365.1|NP_071406.1|NP_775182.1 Q8IXF0 NPAS3_HUMAN neuronal PAS domain protein 3 643 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|signal transducer activity breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 40 Breast(36;0.0102)|Hepatocellular(127;0.133) LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968) GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115) CCAACAGTGCCTCGGTGCTCA 0.662000 33 34 2.04263e-09 2.61356e-09 1 1 0 FMR1 2332 broad.mit.edu 37 X 147027066 147027066 + Missense_Mutation SNP A A T TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chrX:147027066A>T ENST00000218200.8 + 15 1833 c.1604A>T c.(1603-1605)cAc>cTc p.H535L FMR1_ENST00000370470.1_Missense_Mutation_p.H531L|FMR1_ENST00000440235.2_Missense_Mutation_p.H203L|FMR1_ENST00000370475.4_Missense_Mutation_p.H556L|FMR1_ENST00000370471.3_Missense_Mutation_p.T466S|FMR1_ENST00000439526.2_Missense_Mutation_p.H533L|FMR1_ENST00000370477.1_Missense_Mutation_p.H523L NM_001185076.1|NM_001185082.1 NP_001172005.1|NP_001172011.1 Q06787 FMR1_HUMAN fragile X mental retardation 1 556 Interaction with RANBP9.|RNA-binding RGG-box. mRNA transport|negative regulation of translational initiation cytoplasm|mRNA cap binding complex|nucleolus|nucleoplasm|soluble fraction mRNA binding|protein binding NS(1)|breast(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1) 35 Acute lymphoblastic leukemia(192;6.56e-05) AACGACGATCACTCCCGAACA 0.398000 Fragile X syndrome 10 31 0 0 1 0 0 ARHGAP28 79822 broad.mit.edu 37 18 6873574 6873574 + Splice_Site SNP G G T TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr18:6873574G>T ENST00000419673.2 + 7 860 c.e7+1 RP11-146G7.2_ENST00000583659.1_RNA|ARHGAP28_ENST00000532996.1_Splice_Site|ARHGAP28_ENST00000383472.4_Splice_Site|ARHGAP28_ENST00000418986.1_Splice_Site|ARHGAP28_ENST00000262227.3_Splice_Site|ARHGAP28_ENST00000531294.1_Splice_Site|ARHGAP28_ENST00000314319.3_Splice_Site|ARHGAP28_ENST00000400091.2_Splice_Site NM_001010000.2 NP_001010000.1 B4DXL2 B4DXL2_HUMAN Rho GTPase activating protein 28 signal transduction intracellular breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2) 37 Colorectal(10;0.168) AAAGGACGAGGTAACTAAGAA 0.358000 8 55 0.00621372 0.00663226 1 1 0 GINM1 116254 broad.mit.edu 37 6 149893739 149893739 + Splice_Site SNP G G T TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr6:149893739G>T ENST00000367419.5 + 3 398 c.277_splice c.e3+1 p.V93_splice NM_138785.3 NP_620140.1 glycoprotein integral membrane 1 GACTTTGATAGGTGAGTATTA 0.353000 11 17 2.27111e-07 2.70433e-07 1 1 0 AKR1B10 57016 broad.mit.edu 37 7 134216666 134216666 + Missense_Mutation SNP C C T TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr7:134216666C>T ENST00000359579.4 + 3 561 c.241C>T c.(241-243)Ccc>Tcc p.P81S AKR1B10_ENST00000475559.1_3'UTR NM_020299.4 NP_064695.3 O60218 AK1BA_HUMAN aldo-keto reductase family 1, member B10 (aldose reductase) 81 cellular aldehyde metabolic process|digestion|steroid metabolic process cytoplasm aldo-keto reductase (NADP) activity|protein binding NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(9)|skin(5) 20 GCAGTTGTGGCCCACTTTCTT 0.458000 12 54 0 0 1 0 0 FLNA 2316 broad.mit.edu 37 X 153588368 153588368 + Silent SNP A A G TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chrX:153588368A>G ENST00000422373.1 - 22 4043 c.3795T>C c.(3793-3795)atT>atC p.I1265I FLNA_ENST00000344736.4_Silent_p.I1265I|FLNA_ENST00000360319.4_Silent_p.I1265I|FLNA_ENST00000369850.3_Silent_p.I1265I NM_001456.3 NP_001447.2 P21333 FLNA_HUMAN filamin A, alpha 1265 actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering cell cortex|cytosol|extracellular region|nucleus|plasma membrane actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding breast(6) 6 all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-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) CCTGGCCCTCAATACCAGGCC 0.642000 7 60 0 0 1 0 0 SSPO 23145 broad.mit.edu 37 7 149525062 149525062 + RNA SNP G G T TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr7:149525062G>T ENST00000378016.2 + 0 14973 A2VEC9 SSPO_HUMAN SCO-spondin cell adhesion extracellular space peptidase inhibitor activity Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) GGCACCTTGGGCGTCCCCACC 0.672000 5 34 2.7689e-08 3.4361e-08 1 1 0 CDH8 1006 broad.mit.edu 37 16 62055216 62055216 + Missense_Mutation SNP G G A TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr16:62055216G>A ENST00000577390.1 - 2 1046 c.92C>T c.(91-93)cCg>cTg p.P31L CDH8_ENST00000584337.1_Missense_Mutation_p.P31L|CDH8_ENST00000577730.1_Missense_Mutation_p.P31L|CDH8_ENST00000299345.6_Missense_Mutation_p.P31L NM_001796.4 NP_001787.2 P55286 CADH8_HUMAN cadherin 8, type 2 31 adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4) 112 Ovarian(137;0.0799)|Melanoma(118;0.16) UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249) CTGATTCATCGGAGCCATGTA 0.458000 5 45 0 0 1 0 0 FMR1NB 158521 broad.mit.edu 37 X 147084782 147084782 + Silent SNP C C A TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chrX:147084782C>A ENST00000370467.3 + 2 413 c.339C>A c.(337-339)ggC>ggA p.G113G NM_152578.2 NP_689791.1 Q8N0W7 FMR1N_HUMAN fragile X mental retardation 1 neighbor 113 integral to membrane breast(2)|cervix(1)|endometrium(3)|large_intestine(7)|lung(10)|ovary(1)|skin(1) 25 Acute lymphoblastic leukemia(192;6.56e-05) ATGCTCATGGCCAATCTCTGG 0.363000 25 75 2.48779e-11 3.37162e-11 1 1 0 MGAM 8972 broad.mit.edu 37 7 141803165 141803165 + Missense_Mutation SNP C C T TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr7:141803165C>T ENST00000475668.2 + 70 8164 c.8110C>T c.(8110-8112)Ccc>Tcc p.P2704S MGAM_ENST00000549489.2_Missense_Mutation_p.P1808S O43451 MGA_HUMAN maltase-glucoamylase (alpha-glucosidase) 1808 polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2) 13 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) GGGCAGTGTCCCCGTTACCAG 0.453000 3 18 0 0 1 0 0 ADAM21P1 145241 broad.mit.edu 37 14 70713810 70713810 + RNA SNP C C A TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr14:70713810C>A ENST00000530196.1 - 0 708 NR_003951.1 GAGTTCTCAGCCTCTTCAAAT 0.433000 14 60 1.15088e-07 1.37838e-07 1 1 0 ZNF821 55565 broad.mit.edu 37 16 71913844 71913844 + Silent SNP G G A TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr16:71913844G>A ENST00000425432.1 - 3 385 c.6C>T c.(4-6)tcC>tcT p.S2S ZNF821_ENST00000564134.1_Silent_p.S2S|ZNF821_ENST00000565601.1_Silent_p.S2S|RP11-498D10.4_ENST00000569119.1_Intron|ZNF821_ENST00000564943.1_5'UTR|ZNF821_ENST00000313565.6_Silent_p.S2S|ZNF821_ENST00000446827.2_Silent_p.S2S|RP11-498D10.4_ENST00000568581.1_Intron NM_001201552.1 NP_001188481.1 O75541 ZN821_HUMAN zinc finger protein 821 2 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(2) 13 GTTTCCGACGGGACATGTTTC 0.448000 14 155 0 0 1 0 0 ATM 472 broad.mit.edu 37 11 108163369 108163369 + Nonsense_Mutation SNP C C A TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr11:108163369C>A ENST00000278616.4 + 30 4845 c.4460C>A c.(4459-4461)tCa>tAa p.S1487* ATM_ENST00000452508.2_Nonsense_Mutation_p.S1487* NM_000051.3 NP_000042.3 Q13315 ATM_HUMAN ataxia telangiectasia mutated 1487 cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence cytoplasmic membrane-bounded vesicle|nucleoplasm 1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 448 all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147) ATGGATGTGTCATTACGTAGC 0.363000 """D, Mis, N, F, S""" T-PLL """leukemia, lymphoma, medulloblastoma, glioma""" Genes defective in diseases associated with sensitivity to DNA damaging agents Ataxia Telangiectasia TSP Lung(14;0.12) 44 100 1.66251e-12 2.34573e-12 1 1 0 ITGB4 3691 broad.mit.edu 37 17 73738716 73738716 + Missense_Mutation SNP G G T TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr17:73738716G>T ENST00000200181.3 + 25 3023 c.2836G>T c.(2836-2838)Gtg>Ttg p.V946L ITGB4_ENST00000450894.3_Missense_Mutation_p.V946L|ITGB4_ENST00000449880.2_Missense_Mutation_p.V946L|ITGB4_ENST00000339591.3_Missense_Mutation_p.V946L|ITGB4_ENST00000584558.1_3'UTR|ITGB4_ENST00000579662.1_Missense_Mutation_p.V946L NM_000213.3 NP_000204.3 P16144 ITB4_HUMAN integrin, beta 4 946 cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding cell leading edge|cell surface|hemidesmosome|integrin complex protein binding|receptor activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1) 43 all_cancers(13;1.5e-07) all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154) GGACGTACGGGTGCCCCTCTT 0.687000 14 57 1.02788e-11 1.41163e-11 1 1 0 MMP7 4316 broad.mit.edu 37 11 102401431 102401431 + Translation_Start_Site SNP T T C TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr11:102401431T>C ENST00000260227.4 - 1 53 c.1A>G c.(1-3)Atg>Gtg p.M1V NM_002423.3 NP_002414.1 P09237 MMP7_HUMAN matrix metallopeptidase 7 (matrilysin, uterine) 1 collagen catabolic process|proteolysis extracellular space|proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding large_intestine(6)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 12 all_cancers(8;2.04e-05)|all_epithelial(12;0.00053)|Lung NSC(15;0.139) Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033) Epithelial(9;0.0105)|all cancers(10;0.0496)|Lung(13;0.109)|LUSC - Lung squamous cell carcinoma(19;0.151) BRCA - Breast invasive adenocarcinoma(274;0.0147) GTGAGTCGCATAGCTGCCGTC 0.547000 14 31 0 0 1 0 0 AMBN 258 broad.mit.edu 37 4 71468534 71468534 + Missense_Mutation SNP C C A TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr4:71468534C>A ENST00000322937.6 + 8 693 c.590C>A c.(589-591)cCt>cAt p.P197H AMBN_ENST00000449493.2_Missense_Mutation_p.P182H NM_016519.5 NP_057603.1 Q9NP70 AMBN_HUMAN ameloblastin (enamel matrix protein) 197 bone mineralization|cell adhesion|cell proliferation|odontogenesis of dentine-containing tooth proteinaceous extracellular matrix growth factor activity|structural constituent of tooth enamel NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1) 29 Lung(101;0.235) ATGGATTTTCCTGATCCACAA 0.259000 10 25 0.000151284 0.000170298 1 1 0 MXRA5 25878 broad.mit.edu 37 X 3228353 3228353 + Missense_Mutation SNP G G T TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chrX:3228353G>T ENST00000217939.6 - 7 8045 c.7891C>A c.(7891-7893)Ctg>Atg p.L2631M NM_015419.3 NP_056234.2 Q9NR99 MXRA5_HUMAN matrix-remodelling associated 5 2631 extracellular region NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2) 157 all_lung(23;0.00031)|Lung NSC(23;0.000946) CCCACCTTCAGGGAGACCAGC 0.622000 14 36 1.5739e-10 2.07835e-10 1 1 0 FNTA 2339 broad.mit.edu 37 8 42911657 42911657 + Silent SNP G G T TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr8:42911657G>T ENST00000302279.3 + 1 362 c.168G>T c.(166-168)gtG>gtT p.V56V FNTA_ENST00000524546.1_3'UTR|RP11-598P20.5_ENST00000534420.1_Intron|FNTA_ENST00000342116.4_Silent_p.V56V NM_002027.2 NP_002018.1 P49354 FNTA_HUMAN farnesyltransferase, CAAX box, alpha 56 cellular component disassembly involved in apoptosis|positive regulation of deacetylase activity|positive regulation of tubulin deacetylation|protein farnesylation|protein geranylgeranylation|transforming growth factor beta receptor signaling pathway cytosol|microtubule associated complex alpha-tubulin binding|CAAX-protein geranylgeranyltransferase activity|microtubule binding|protein farnesyltransferase activity cervix(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1) 16 Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184) all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129) Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17) ACGGGTTTGTGAGCCTGGACT 0.731000 3 7 0.115264 0.118722 1 1 0 ZNF560 147741 broad.mit.edu 37 19 9580363 9580363 + Missense_Mutation SNP G G T TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr19:9580363G>T ENST00000301480.4 - 8 685 c.472C>A c.(472-474)Ctg>Atg p.L158M NM_152476.2 NP_689689.2 Q96MR9 ZN560_HUMAN zinc finger protein 560 158 KRAB 2. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4) 65 CAAGAGATCAGACTGGGTTTG 0.473000 11 26 1.5842e-08 1.97785e-08 1 1 0 ECE2 9718 broad.mit.edu 37 3 183995734 183995734 + Missense_Mutation SNP G G T TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr3:183995734G>T ENST00000402825.3 + 5 854 c.854G>T c.(853-855)aGc>aTc p.S285I ECE2_ENST00000404464.3_Missense_Mutation_p.S167I|EIF2B5_ENST00000444495.1_Intron|ECE2_ENST00000359140.4_Missense_Mutation_p.S138I|ECE2_ENST00000357474.5_Missense_Mutation_p.S213I NM_014693.3 NP_055508.3 O60344 ECE2_HUMAN endothelin converting enzyme 2 285 Endothelin-converting enzyme 2 region. brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing cytoplasmic vesicle membrane|Golgi membrane|integral to membrane metal ion binding|metalloendopeptidase activity|methyltransferase activity breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4) 49 all_cancers(143;1.39e-10)|Ovarian(172;0.0339) Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) TTCAACTCCAGCAGTGAAGCT 0.557000 27 66 1.12875e-08 1.41782e-08 1 1 0 AHNAK2 113146 broad.mit.edu 37 14 105416061 105416061 + Silent SNP C C A TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr14:105416061C>A ENST00000333244.5 - 7 5846 c.5727G>T c.(5725-5727)gtG>gtT p.V1909V AHNAK2_ENST00000557457.1_Intron NM_138420.2 NP_612429.2 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 1909 nucleus cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3) 33 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) TGGGCATATCCACCTTGGGCA 0.617000 12 199 6.31663e-08 7.69956e-08 1 1 0 RASD2 23551 broad.mit.edu 37 22 35943106 35943106 + Missense_Mutation SNP C C A TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr22:35943106C>A ENST00000216127.4 + 2 892 c.250C>A c.(250-252)Cgc>Agc p.R84S NM_014310.3 NP_055125.2 Q96D21 RHES_HUMAN RASD family, member 2 84 locomotory behavior|positive regulation of protein kinase B signaling cascade|positive regulation of protein sumoylation|regulation of cAMP-mediated signaling intracellular|plasma membrane G-protein beta-subunit binding|GTP binding|GTPase activity endometrium(2)|large_intestine(1)|lung(8)|prostate(1)|skin(1) 13 CCCCGCCATGCGCAGGCTGTC 0.637000 24 66 1.836e-18 2.82251e-18 1 1 0 CTBP1 1487 broad.mit.edu 37 4 1206184 1206184 + Silent SNP G G C TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr4:1206184G>C ENST00000382952.3 - 10 1518 c.1134C>G c.(1132-1134)gcC>gcG p.A378A CTBP1_ENST00000290921.6_Silent_p.A389A NM_001012614.1 NP_001012632.1 Q13363 CTBP1_HUMAN C-terminal binding protein 1 389 interspecies interaction between organisms|negative regulation of cell proliferation|negative regulation of histone H4 acetylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of histone deacetylation|protein phosphorylation|regulation of cell cycle|regulation of transcription by chromatin organization|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|viral genome replication|white fat cell differentiation cytoplasm|transcriptional repressor complex NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein C-terminus binding|protein domain specific binding|transcription factor binding endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|urinary_tract(1) 8 OV - Ovarian serous cystadenocarcinoma(23;0.00818) Colorectal(103;0.2) TGCCAGTGGGGGCCACGCCCA 0.716000 5 7 0 0 1 0 0 ADAMTS9 56999 broad.mit.edu 37 3 64587701 64587701 + Missense_Mutation SNP C C G TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr3:64587701C>G ENST00000498707.1 - 26 4278 c.3936G>C c.(3934-3936)gaG>gaC p.E1312D ADAMTS9_ENST00000295903.4_Missense_Mutation_p.E1284D NM_182920.1 NP_891550.1 Q9P2N4 ATS9_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 9 1312 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) GACGATAGTCCTCATTTTGGA 0.572000 44 69 0 0 1 0 0 MFN1 55669 broad.mit.edu 37 3 179085233 179085233 + Nonsense_Mutation SNP A A T TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr3:179085233A>T ENST00000471841.1 + 8 886 c.760A>T c.(760-762)Aga>Tga p.R254* MFN1_ENST00000280653.7_Nonsense_Mutation_p.R254*|MFN1_ENST00000263969.5_Nonsense_Mutation_p.R254* NM_033540.2 NP_284941.2 Q8IWA4 MFN1_HUMAN mitofusin 1 254 mitochondrial fusion integral to membrane|mitochondrial outer membrane GTP binding|GTPase activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(3)|prostate(1)|urinary_tract(1) 31 all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923) GTAGGTACGCAGACAGCACAT 0.348000 5 40 0 0 1 0 0 GRM8 2918 broad.mit.edu 37 7 126173883 126173883 + Missense_Mutation SNP A A T TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr7:126173883A>T ENST00000339582.2 - 9 2361 c.1553T>A c.(1552-1554)cTg>cAg p.L518Q GRM8_ENST00000358373.3_Missense_Mutation_p.L518Q|GRM8_ENST00000444921.2_Missense_Mutation_p.L518Q|GRM8_ENST00000480995.1_Intron O00222 GRM8_HUMAN glutamate receptor, metabotropic 8 518 negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception integral to plasma membrane breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4) 125 Prostate(267;0.186) L-Glutamic Acid(DB00142) CTTACACGGCAGGCTGCAGAC 0.522000 HNSCC(24;0.065) 13 93 0 0 1 0 0 TAF2 6873 broad.mit.edu 37 8 120758944 120758944 + Splice_Site SNP C C A TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr8:120758944C>A ENST00000378164.2 - 23 3407 c.e23+1 NM_003184.3 NP_003175.1 Q6P1X5 TAF2_HUMAN TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa G2/M transition of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter transcription factor TFIID complex|transcription factor TFTC complex metallopeptidase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding NS(2)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(21)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 49 Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161) STAD - Stomach adenocarcinoma(47;0.00185) GTGATTCTTACAGGGTTCTGA 0.388000 91 95 2.84844e-50 4.80965e-50 1 1 0 FCGBP 8857 broad.mit.edu 37 19 40357618 40357618 + Missense_Mutation SNP C C T TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr19:40357618C>T ENST00000221347.6 - 34 15702 c.15695G>A c.(15694-15696)cGt>cAt p.R5232H NM_003890.2 NP_003881.2 Q9Y6R7 FCGBP_HUMAN Fc fragment of IgG binding protein 5232 extracellular region protein binding NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3) 165 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) ACAGAGACCACGGGTGGCCCA 0.627000 3 63 0 0 1 0 0 MPPED2 744 broad.mit.edu 37 11 30601848 30601848 + Missense_Mutation SNP C C A TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr11:30601848C>A ENST00000448418.2 - 2 433 c.73G>T c.(73-75)Gca>Tca p.A25S MPPED2_ENST00000358117.5_Missense_Mutation_p.A25S NM_001145399.1 NP_001138871.1 Q15777 MPPD2_HUMAN metallophosphoesterase domain containing 2 25 nervous system development hydrolase activity|metal ion binding NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(15)|skin(2)|upper_aerodigestive_tract(2) 33 TGCGTGAATGCCTGGGTGGGG 0.438000 28 72 2.12542e-12 2.97847e-12 1 1 0 TMTC2 160335 broad.mit.edu 37 12 83444707 83444707 + Missense_Mutation SNP G G T TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr12:83444707G>T ENST00000549919.1 + 11 3964 c.2159G>T c.(2158-2160)cGt>cTt p.R720L TMTC2_ENST00000321196.3_Missense_Mutation_p.R726L Q8N394 TMTC2_HUMAN transmembrane and tetratricopeptide repeat containing 2 726 endoplasmic reticulum|integral to membrane binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|urinary_tract(1) 39 GAAGAAGCTCGTCTCATAGAA 0.383000 8 26 3.09899e-07 3.66891e-07 1 1 0 CLCA4 22802 broad.mit.edu 37 1 87031633 87031633 + Missense_Mutation SNP C C T TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr1:87031633C>T ENST00000370563.3 + 6 926 c.884C>T c.(883-885)cCt>cTt p.P295L CLCA4_ENST00000263723.5_Missense_Mutation_p.P8L NM_012128.3 NP_036260.2 Q14CN2 CLCA4_HUMAN chloride channel accessory 4 295 apical plasma membrane|extracellular region|integral to plasma membrane chloride channel activity breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 44 Lung NSC(277;0.238) all cancers(265;0.0202)|Epithelial(280;0.0404) CCTCCTCCACCTGTCTTCTCA 0.403000 19 46 0 0 1 0 0 PCDHGA11 56105 broad.mit.edu 37 5 140803124 140803124 + Missense_Mutation SNP G G T TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr5:140803124G>T ENST00000398587.2 + 1 2363 c.2330G>T c.(2329-2331)gGg>gTg p.G777V PCDHGA8_ENST00000398604.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron NM_018914.2|NM_032092.1 NP_061737.1|NP_114481.1 breast(3)|endometrium(8)|kidney(3)|large_intestine(9)|lung(22)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1) 49 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCCAACTATGGGGACACGCTC 0.517000 44 91 1.26584e-47 2.12002e-47 1 1 0 TMEM5 10329 broad.mit.edu 37 12 64202608 64202608 + Silent SNP G G T TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr12:64202608G>T ENST00000537373.1 + 6 1236 c.288G>T c.(286-288)gtG>gtT p.V96V TMEM5_ENST00000261234.6_Silent_p.V356V NM_001278237.1 NP_001265166.1 Q9Y2B1 TMEM5_HUMAN transmembrane protein 5 356 integral to plasma membrane p.V356V(1) breast(1)|large_intestine(3)|liver(2)|lung(7)|prostate(1)|skin(1) 15 Myeloproliferative disorder(1001;0.0255) BRCA - Breast invasive adenocarcinoma(9;0.0985) GBM - Glioblastoma multiforme(28;9e-08)|BRCA - Breast invasive adenocarcinoma(357;0.000175) TGGAAGACGTGATGACAGCTG 0.493000 26 77 2.85442e-18 4.3236e-18 1 1 0 AP1S1 1174 broad.mit.edu 37 7 100799899 100799899 + Missense_Mutation SNP C C G TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr7:100799899C>G ENST00000337619.5 + 2 146 c.28C>G c.(28-30)Cgg>Ggg p.R10G NM_001283.3 NP_001274.1 P61966 AP1S1_HUMAN adaptor-related protein complex 1, sigma 1 subunit 10 intracellular protein transport|post-Golgi vesicle-mediated transport|receptor-mediated endocytosis|regulation of defense response to virus by virus|response to virus|viral reproduction AP-1 adaptor complex|coated pit|cytosol|lysosomal membrane protein binding|protein transporter activity breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2) 8 Lung NSC(181;0.168)|all_lung(186;0.215) ATTATTCAGCCGGCAGGGAAA 0.527000 8 13 0 0 1 0 0 CRYBB2P1 1416 broad.mit.edu 37 22 25851689 25851689 + RNA SNP T T C TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr22:25851689T>C ENST00000354451.2 + 0 5 CTGGGTGAGCTATGAACAGGC 0.577000 24 69 0 0 1 0 0 ZNF331 55422 broad.mit.edu 37 19 54080559 54080559 + Missense_Mutation SNP G G A TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr19:54080559G>A ENST00000253144.9 + 7 2078 c.745G>A c.(745-747)Ggg>Agg p.G249R ZNF331_ENST00000512387.1_Missense_Mutation_p.G249R|ZNF331_ENST00000511154.1_Missense_Mutation_p.G249R|ZNF331_ENST00000411977.2_Missense_Mutation_p.G249R|ZNF331_ENST00000513999.1_Missense_Mutation_p.G249R|ZNF331_ENST00000449416.1_Missense_Mutation_p.G249R|ZNF331_ENST00000513265.1_Intron|ZNF331_ENST00000511593.2_Missense_Mutation_p.G249R NM_001253801.1|NM_018555.5 NP_001240730.1|NP_061025.5 Q9NQX6 ZN331_HUMAN zinc finger protein 331 249 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 10 GBM - Glioblastoma multiforme(134;0.00555) CAAAGACTGTGGGAAGACCTT 0.458000 T ? follicular thyroid adenoma 25 56 0 0 1 0 0 COL28A1 340267 broad.mit.edu 37 7 7476096 7476096 + Splice_Site SNP T T C TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr7:7476096T>C ENST00000399429.3 - 23 1932 c.e23-2 NM_001037763.2 NP_001032852.2 Q2UY09 COSA1_HUMAN collagen, type XXVIII, alpha 1 cell adhesion basement membrane|collagen serine-type endopeptidase inhibitor activity cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1) 42 Ovarian(82;0.0789) UCEC - Uterine corpus endometrioid carcinoma (126;0.228) TCTATCTCCCTGTACATTTCA 0.398000 23 38 0 0 1 0 0 RANBP2 5903 broad.mit.edu 37 2 109365555 109365555 + Nonsense_Mutation SNP G G T TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr2:109365555G>T ENST00000283195.6 + 9 1369 c.1243G>T c.(1243-1245)Gag>Tag p.E415* NM_006267.4 NP_006258.3 P49792 RBP2_HUMAN RAN binding protein 2 415 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding RANBP2/ALK(34) NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 129 ACGAGAACCAGAGCTTGAAGA 0.368000 5 234 1 1 1 1 0 ZNF585A 199704 broad.mit.edu 37 19 37646813 37646813 + Silent SNP C C T TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr19:37646813C>T ENST00000356958.4 - 4 504 c.246G>A c.(244-246)aaG>aaA p.K82K ZNF585A_ENST00000355533.2_Silent_p.K27K|ZNF585A_ENST00000392157.2_Silent_p.K27K|ZNF585A_ENST00000588723.1_5'UTR|ZNF585A_ENST00000292841.5_Silent_p.K27K Q6P3V2 Z585A_HUMAN zinc finger protein 585A 82 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding breast(4)|central_nervous_system(1)|endometrium(2)|large_intestine(17)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 42 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) CCCATGGTTCCTTTCCTTGCT 0.527000 20 66 0 0 1 0 0 LAMA2 3908 broad.mit.edu 37 6 129637037 129637037 + Missense_Mutation SNP G G A TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr6:129637037G>A ENST00000421865.2 + 26 3915 c.3866G>A c.(3865-3867)aGg>aAg p.R1289K NM_000426.3|NM_001079823.1 NP_000417.2|NP_001073291.1 P24043 LAMA2_HUMAN laminin, alpha 2 1289 Laminin IV type A 2. cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2) 194 OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245) ATTATCGTCAGGCATATGGCT 0.423000 21 49 0 0 1 0 0 PRSS38 339501 broad.mit.edu 37 1 228005073 228005073 + Missense_Mutation SNP C C T TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr1:228005073C>T ENST00000366757.3 + 3 499 c.475C>T c.(475-477)Cgc>Tgc p.R159C NM_183062.2 NP_898885.1 A1L453 PRS38_HUMAN protease, serine, 38 159 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 23 GCTGAAGACCCGCATTGTGTT 0.567000 14 71 0 0 1 0 0 MAGEA11 4110 broad.mit.edu 37 X 148798206 148798206 + Nonsense_Mutation SNP G G T TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chrX:148798206G>T ENST00000355220.5 + 5 1162 c.1060G>T c.(1060-1062)Gag>Tag p.E354* MAGEA11_ENST00000333104.4_Nonsense_Mutation_p.E325* NM_005366.4 NP_005357.2 P43364 MAGAB_HUMAN melanoma antigen family A, 11 354 MAGE. cytoplasm|nucleus protein binding p.A77A(1)|p.E354K(1) cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1) 9 Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662) CCTCTTTGGGGAGCCCAAGAG 0.542000 46 189 1.07234e-20 1.71243e-20 1 1 0 SQSTM1 8878 broad.mit.edu 37 5 179251243 179251243 + Nonsense_Mutation SNP G G A TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr5:179251243G>A ENST00000389805.4 + 4 771 c.593G>A c.(592-594)tGg>tAg p.W198* SQSTM1_ENST00000402874.3_Nonsense_Mutation_p.W114*|SQSTM1_ENST00000376929.3_Nonsense_Mutation_p.W114*|SQSTM1_ENST00000360718.5_Nonsense_Mutation_p.W114*|SQSTM1_ENST00000510187.1_Nonsense_Mutation_p.W198* NM_003900.4 NP_003891.1 Q13501 SQSTM_HUMAN sequestosome 1 198 Interaction with GABRR3 (By similarity).|LIM protein-binding (LB). anti-apoptosis|apoptosis|cell differentiation|endosome transport|induction of apoptosis by extracellular signals|intracellular signal transduction|macroautophagy|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein localization|regulation of I-kappaB kinase/NF-kappaB cascade|ubiquitin-dependent protein catabolic process cytosol|late endosome|nucleoplasm protein kinase C binding|receptor tyrosine kinase binding|SH2 domain binding|ubiquitin binding|zinc ion binding SQSTM1/ALK(2) NS(1)|breast(1)|endometrium(1)|large_intestine(2)|liver(2)|lung(5)|ovary(1) 13 all_cancers(89;0.000205)|all_epithelial(37;7.15e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243) all_cancers(40;0.0395)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) TGGCCAGGATGGGAAATGGGT 0.652000 11 48 0 0 1 0 0 LAMA2 3908 broad.mit.edu 37 6 129637038 129637038 + Missense_Mutation SNP G G T TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr6:129637038G>T ENST00000421865.2 + 26 3916 c.3867G>T c.(3865-3867)agG>agT p.R1289S NM_000426.3|NM_001079823.1 NP_000417.2|NP_001073291.1 P24043 LAMA2_HUMAN laminin, alpha 2 1289 Laminin IV type A 2. cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2) 194 OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245) TTATCGTCAGGCATATGGCTG 0.418000 20 50 5.35356e-11 7.16125e-11 1 1 0 C2CD2L 9854 broad.mit.edu 37 11 118984560 118984560 + Splice_Site SNP A A G TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr11:118984560A>G ENST00000336702.3 + 12 1848 c.e12-1 C2CD2L_ENST00000528586.1_Intron NM_014807.3 NP_055622.3 O14523 C2C2L_HUMAN C2CD2-like integral to membrane NS(1)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1) 13 CTGCACCCCTAGCAGGGGACA 0.567000 20 60 0 0 1 0 0 MT-CYB 4519 broad.mit.edu 37 MT 15003 15003 + Missense_Mutation SNP G G A TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chrM:15003G>A ENST00000361789.2 + 1 257 c.257G>A c.(256-258)gGc>gAc p.86_86insD mitochondrially encoded cytochrome b breast(6)|endometrium(25)|kidney(33)|prostate(1) 65 TCACGCCAATGGCGCCTCAAT 0.473000 10 3 0 0 1 0 0 CSMD3 114788 broad.mit.edu 37 8 113529289 113529289 + Missense_Mutation SNP C C A TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr8:113529289C>A ENST00000297405.5 - 28 4974 c.4730G>T c.(4729-4731)tGg>tTg p.W1577L CSMD3_ENST00000455883.2_Missense_Mutation_p.W1473L|CSMD3_ENST00000343508.3_Missense_Mutation_p.W1537L|CSMD3_ENST00000352409.3_Missense_Mutation_p.W1577L NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 1577 Sushi 8. integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 GCTGGGCTGCCAGAAGTACCG 0.363000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 14 142 0.000958276 0.00104447 1 1 0 PROSER1 80209 broad.mit.edu 37 13 39587831 39587831 + Missense_Mutation SNP C C A TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr13:39587831C>A ENST00000352251.3 - 11 2391 c.1558G>T c.(1558-1560)Gcc>Tcc p.A520S PROSER1_ENST00000350125.3_Missense_Mutation_p.A498S|PROSER1_ENST00000484434.2_Intron NM_025138.3 NP_079414.3 Q86XN7 CM023_HUMAN proline and serine rich 1 520 Ser-rich. p.A520P(1) GCTGATGGGGCATAGCACTTG 0.552000 12 21 7.03913e-09 8.89607e-09 1 1 0 MC2R 4158 broad.mit.edu 37 18 13885199 13885199 + Missense_Mutation SNP C C T rs104894661 TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr18:13885199C>T ENST00000327606.3 - 2 499 c.319G>A c.(319-321)Gac>Aac p.D107N NM_000529.2 NP_000520.1 Q01718 ACTHR_HUMAN melanocortin 2 receptor (adrenocorticotropic hormone) 107 D -> N (in GCCD1). G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process integral to plasma membrane corticotropin receptor activity|protein binding breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(8)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 30 Corticotropin(DB01285)|Cosyntropin(DB01284) AACAGGGAGTCGATGATGTCA 0.498000 9 51 0 0 1 0 0 RANGRF 29098 broad.mit.edu 37 17 8193136 8193136 + Nonstop_Mutation SNP A A G TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr17:8193136A>G ENST00000580434.1 + 4 475 c.357A>G c.(355-357)tgA>tgG p.*119W RANGRF_ENST00000439238.3_3'UTR|RANGRF_ENST00000226105.6_Missense_Mutation_p.D148G|SLC25A35_ENST00000580340.1_Intron|SLC25A35_ENST00000396278.1_Intron|RANGRF_ENST00000407006.4_3'UTR|SLC25A35_ENST00000380067.2_Intron|SLC25A35_ENST00000579192.1_Intron Q9HD47 MOG1_HUMAN RAN guanine nucleotide release factor 0 protein transport cytoplasm|nucleus guanyl-nucleotide exchange factor activity endometrium(1) 1 CCAAGCCCTGACAACAGGTCA 0.542000 11 58 0 0 1 0 0 OR4M1 441670 broad.mit.edu 37 14 20249076 20249076 + Missense_Mutation SNP A A T TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr14:20249076A>T ENST00000315957.4 + 1 676 c.595A>T c.(595-597)Atg>Ttg p.M199L NM_001005500.1 NP_001005500.1 Q8NGD0 OR4M1_HUMAN olfactory receptor, family 4, subfamily M, member 1 199 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2) 42 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) GGAGTTAGTGATGATCTGTAG 0.478000 60 116 0 0 1 0 0 ADAMTS18 170692 broad.mit.edu 37 16 77369751 77369751 + Silent SNP G G T TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr16:77369751G>T ENST00000282849.5 - 12 2179 c.1761C>A c.(1759-1761)ccC>ccA p.P587P NM_199355.2 NP_955387.1 Q8TE60 ATS18_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 18 587 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 118 GGCCGTGGATGGGCCGGGGCC 0.577000 55 98 7.92265e-33 1.28509e-32 1 1 0 DLX1 1745 broad.mit.edu 37 2 172951500 172951500 + Silent SNP C C T TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr2:172951500C>T ENST00000361725.4 + 2 884 c.432C>T c.(430-432)aaC>aaT p.N144N DLX1_ENST00000341900.6_Intron NM_178120.4 NP_835221.2 P56177 DLX1_HUMAN distal-less homeobox 1 144 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|lung(4)|prostate(1) 6 OV - Ovarian serous cystadenocarcinoma(117;0.216) AGGCTTTGAACCGGAGGTTCC 0.572000 52 152 0 0 1 0 0 OR56A3 390083 broad.mit.edu 37 11 5969311 5969311 + Nonsense_Mutation SNP T T A TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr11:5969311T>A ENST00000329564.6 + 1 742 c.735T>A c.(733-735)tgT>tgA p.C245* NM_001003443.2 NP_001003443.2 Q8NH54 O56A3_HUMAN olfactory receptor, family 56, subfamily A, member 3 245 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(27)|stomach(1)|upper_aerodigestive_tract(1) 41 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) TAAGCACATGTGGCTCCCACT 0.517000 58 151 0 0 1 0 0 NPAP1 23742 broad.mit.edu 37 15 24923826 24923826 + Missense_Mutation SNP G G T TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr15:24923826G>T ENST00000329468.2 + 1 3286 c.2812G>T c.(2812-2814)Ggc>Tgc p.G938C NM_018958.2 NP_061831.2 nuclear pore associated protein 1 GCCACTGAGTGGCAGCATAAT 0.488000 12 69 9.04627e-18 1.36024e-17 1 1 0 TLL2 7093 broad.mit.edu 37 10 98145954 98145954 + Missense_Mutation SNP A A T TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr10:98145954A>T ENST00000357947.3 - 15 2096 c.1871T>A c.(1870-1872)aTt>aAt p.I624N NM_012465.3 NP_036597.1 Q9Y6L7 TLL2_HUMAN tolloid-like 2 624 CUB 3. cell differentiation|multicellular organismal development|proteolysis extracellular region calcium ion binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3) 58 Colorectal(252;0.0846) Epithelial(162;1.51e-07)|all cancers(201;7.59e-06) CAGCTTGGTAATGAAACCGCC 0.552000 24 86 0 0 1 0 0 COIL 8161 broad.mit.edu 37 17 55028031 55028031 + Missense_Mutation SNP C C T TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr17:55028031C>T ENST00000240316.4 - 2 606 c.572G>A c.(571-573)tGt>tAt p.C191Y NM_004645.2 NP_004636.1 P38432 COIL_HUMAN coilin 191 Lys-rich (basic). Cajal body|nucleolus protein C-terminus binding NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1) 15 Breast(9;6.15e-08) TTTATATTCACATTTCTCCTT 0.393000 34 50 0 0 1 0 0 C9orf91 203197 broad.mit.edu 37 9 117400932 117400932 + Missense_Mutation SNP G G T TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr9:117400932G>T ENST00000374049.4 + 8 1215 c.778G>T c.(778-780)Ggc>Tgc p.G260C C9orf91_ENST00000288502.4_Missense_Mutation_p.G259C NM_153045.3 NP_694590.2 Q5VZI3 CI091_HUMAN chromosome 9 open reading frame 91 259 integral to membrane endometrium(2)|large_intestine(3)|lung(5)|pancreas(1)|skin(1)|urinary_tract(1) 13 TCTCCTGCCCGGCAATTCTTG 0.577000 5 61 5.9392e-07 6.99129e-07 1 1 0 PCDH15 65217 broad.mit.edu 37 10 55755437 55755437 + Missense_Mutation SNP G G C TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr10:55755437G>C ENST00000373965.2 - 22 3255 c.2861C>G c.(2860-2862)aCa>aGa p.T954R PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000373955.1_Missense_Mutation_p.T947R|PCDH15_ENST00000395445.1_Missense_Mutation_p.T954R|PCDH15_ENST00000395433.1_Missense_Mutation_p.T925R|PCDH15_ENST00000414778.1_Missense_Mutation_p.T952R|PCDH15_ENST00000395432.2_Missense_Mutation_p.T910R|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000361849.3_Missense_Mutation_p.T947R|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395438.1_Missense_Mutation_p.T947R|PCDH15_ENST00000409834.1_Missense_Mutation_p.T558R|PCDH15_ENST00000395430.1_Missense_Mutation_p.T947R|PCDH15_ENST00000437009.1_Missense_Mutation_p.T876R|PCDH15_ENST00000320301.6_Missense_Mutation_p.T947R NM_001142771.1|NM_001142772.1 NP_001136243.1|NP_001136244.1 Q96QU1 PCD15_HUMAN protocadherin-related 15 947 Cadherin 9. equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1) 237 Melanoma(3;0.117)|Lung SC(717;0.238) AGCATAAACTGTTGTGATAGG 0.388000 HNSCC(58;0.16) 19 69 0 0 1 0 0 TRPS1 7227 broad.mit.edu 37 8 116599521 116599521 + Missense_Mutation SNP G G A TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr8:116599521G>A ENST00000395715.3 - 5 2984 c.2407C>T c.(2407-2409)Cgc>Tgc p.R803C TRPS1_ENST00000519076.1_Missense_Mutation_p.R544C|TRPS1_ENST00000520276.1_Missense_Mutation_p.R794C|TRPS1_ENST00000220888.5_Missense_Mutation_p.R790C|TRPS1_ENST00000519674.1_Missense_Mutation_p.R790C NM_014112.2 NP_054831.2 Q9UHF7 TRPS1_HUMAN trichorhinophalangeal syndrome I 790 Mediates interaction with GLI3. negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2) 111 all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219) Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12) GTCACATTGCGAAGGTCATCA 0.567000 Langer-Giedion syndrome 56 588 0 0 1 0 0 BCLAF1 9774 broad.mit.edu 37 6 136596725 136596725 + Silent SNP T T C TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr6:136596725T>C ENST00000531224.1 - 6 2049 c.1797A>G c.(1795-1797)aaA>aaG p.K599K BCLAF1_ENST00000527536.1_Silent_p.K599K|BCLAF1_ENST00000392348.2_Silent_p.K597K|BCLAF1_ENST00000527759.1_Silent_p.K597K|BCLAF1_ENST00000353331.4_Silent_p.K597K|BCLAF1_ENST00000530767.1_Silent_p.K426K NM_001077441.1|NM_014739.2 NP_001070909.1|NP_055554.1 Q9NYF8 BCLF1_HUMAN BCL2-associated transcription factor 1 599 induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|protein binding haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1) 9 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331) CTGAAGTGCTTTTGCTGGCCT 0.393000 9 104 0 0 1 0 0 RARRES3 5920 broad.mit.edu 37 11 63312096 63312096 + Missense_Mutation SNP A A G TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr11:63312096A>G ENST00000439013.2 + 3 175 c.122A>G c.(121-123)gAg>gGg p.E41G RARRES3_ENST00000537871.1_3'UTR|RARRES3_ENST00000255688.3_Missense_Mutation_p.E41G|RARRES3_ENST00000354445.2_Missense_Mutation_p.E41G Q9UL19 TIG3_HUMAN retinoic acid receptor responder (tazarotene induced) 3 41 lipid catabolic process|negative regulation of cell proliferation hydrolase activity kidney(1)|large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1) 6 ATTGCAGGTGAGTACCCCGGG 0.547000 63 205 0 0 1 0 0 TNN 63923 broad.mit.edu 37 1 175066576 175066576 + Missense_Mutation SNP G G T TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr1:175066576G>T ENST00000239462.4 + 8 1725 c.1612G>T c.(1612-1614)Gtg>Ttg p.V538L NM_022093.1 NP_071376.1 Q9UQP3 TENN_HUMAN tenascin N 538 Fibronectin type-III 4. cell growth|cell migration|signal transduction extracellular space|proteinaceous extracellular matrix NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 156 Breast(1374;0.000962) KIRC - Kidney renal clear cell carcinoma(1967;0.00198) AGCAAACCTGGTGACTGACCG 0.502000 20 37 1.50039e-11 2.04689e-11 1 1 0 POLR3C 10623 broad.mit.edu 37 1 145608468 145608468 + Silent SNP G G A TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr1:145608468G>A ENST00000334163.3 - 3 499 c.339C>T c.(337-339)aaC>aaT p.N113N POLR3C_ENST00000471254.1_5'UTR|POLR3C_ENST00000369294.1_Silent_p.N113N NM_006468.6 NP_006459.3 Q9BUI4 RPC3_HUMAN polymerase (RNA) III (DNA directed) polypeptide C (62kD) 113 innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|regulation of transcription from RNA polymerase III promoter|response to virus DNA-directed RNA polymerase III complex DNA binding|DNA-directed RNA polymerase activity breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) Epithelial(2;7.55e-13) TCAGTTTGCCGTTCAACAGAA 0.468000 4 125 0 0 1 0 0 CARD11 84433 broad.mit.edu 37 7 2983872 2983872 + Missense_Mutation SNP T T A TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr7:2983872T>A ENST00000396946.4 - 5 1061 c.658A>T c.(658-660)Atg>Ttg p.M220L AC004906.3_ENST00000423194.1_RNA NM_032415.4 NP_115791.3 Q9BXL7 CAR11_HUMAN caspase recruitment domain family, member 11 220 positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway cytosol|membrane raft|plasma membrane CARD domain binding|guanylate kinase activity NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2) 150 Ovarian(82;0.0115) OV - Ovarian serous cystadenocarcinoma(56;8.44e-14) CGGCTCCTCATGACCGCCATG 0.582000 Mis DLBCL 8 40 0 0 1 0 0 NTRK3 4916 broad.mit.edu 37 15 88679802 88679802 + Missense_Mutation SNP C C A TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr15:88679802C>A ENST00000394480.1 - 8 982 c.661G>T c.(661-663)Gta>Tta p.V221L NTRK3_ENST00000357724.2_Missense_Mutation_p.V221L|NTRK3_ENST00000542733.2_Missense_Mutation_p.V123L|NTRK3_ENST00000360948.2_Missense_Mutation_p.V221L|NTRK3_ENST00000557856.1_Missense_Mutation_p.V221L|NTRK3_ENST00000540489.2_Missense_Mutation_p.V221L|NTRK3_ENST00000317501.3_Missense_Mutation_p.V221L|NTRK3_ENST00000355254.2_Missense_Mutation_p.V221L|NTRK3_ENST00000558676.1_Missense_Mutation_p.V221L NM_001243101.1|NM_002530.3 NP_001230030.1|NP_002521.2 Q16288 NTRK3_HUMAN neurotrophic tyrosine kinase, receptor, type 3 221 Ig-like C2-type 1. transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity ETV6/NTRK3(238) breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2) 119 BRCA - Breast invasive adenocarcinoma(143;0.211) CCCTCTCGTACGGTCAGGTTG 0.527000 T ETV6 """congenital fibrosarcoma, Secretory breast """ TSP Lung(13;0.10) 3 17 1 1 1 1 0 GPRASP1 9737 broad.mit.edu 37 X 101912229 101912229 + Missense_Mutation SNP A A G TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chrX:101912229A>G ENST00000537097.1 + 6 4201 c.3388A>G c.(3388-3390)Agg>Ggg p.R1130G GPRASP1_ENST00000415986.1_Missense_Mutation_p.R1130G|RP4-769N13.7_ENST00000602441.1_RNA|GPRASP1_ENST00000444152.1_Missense_Mutation_p.R1130G|GPRASP1_ENST00000361600.5_Missense_Mutation_p.R1130G NM_001184727.1 NP_001171656.1 Q5JY77 GASP1_HUMAN G protein-coupled receptor associated sorting protein 1 1130 OPRD1-binding. cytoplasm protein binding NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 AGAGCATCTTAGGGCCAAGGA 0.433000 7 112 0 0 1 0 0 MKI67 4288 broad.mit.edu 37 10 129911758 129911758 + Missense_Mutation SNP C C A TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr10:129911758C>A ENST00000368654.3 - 8 1964 c.1589G>T c.(1588-1590)gGa>gTa p.G530V MKI67_ENST00000368653.3_Missense_Mutation_p.G170V NM_002417.4 NP_002408.3 P46013 KI67_HUMAN marker of proliferation Ki-67 530 cell proliferation nucleolus ATP binding|protein C-terminus binding NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4) 159 all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203) TGGGGCTTCTCCCCTTTTGAG 0.473000 36 76 1.04594e-18 1.62003e-18 1 1 0 AVPR2 554 broad.mit.edu 37 X 153172004 153172004 + Missense_Mutation SNP T T A TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chrX:153172004T>A ENST00000358927.2 + 4 1147 c.938T>A c.(937-939)cTg>cAg p.L313Q AVPR2_ENST00000370049.1_3'UTR|AVPR2_ENST00000337474.5_Missense_Mutation_p.L313Q P30518 V2R_HUMAN arginine vasopressin receptor 2 313 activation of adenylate cyclase activity|excretion|G-protein signaling, coupled to cAMP nucleotide second messenger|hemostasis|positive regulation of gene expression|transmembrane transport|water transport endoplasmic reticulum|endosome|Golgi apparatus|integral to plasma membrane vasopressin receptor activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1) 26 all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05) Conivaptan(DB00872)|Terlipressin(DB02638)|Vasopressin(DB00067) CTCATGTTGCTGGCCAGCCTC 0.617000 58 244 0 0 1 0 0 GPC6 10082 broad.mit.edu 37 13 94482699 94482699 + Silent SNP C C A TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr13:94482699C>A ENST00000377047.4 + 3 1227 c.612C>A c.(610-612)ccC>ccA p.P204P GPC6-AS2_ENST00000445540.1_RNA NM_005708.3 NP_005699.1 Q9Y625 GPC6_HUMAN glypican 6 204 anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix heparan sulfate proteoglycan binding NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 38 all_neural(89;0.0684)|Medulloblastoma(90;0.163) all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217) GAGACGTGCCCCGGAAACTGA 0.512000 10 23 0.00621372 0.00663226 1 1 0 TRIML1 339976 broad.mit.edu 37 4 189061712 189061712 + Missense_Mutation SNP C C T TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr4:189061712C>T ENST00000332517.3 + 2 579 c.439C>T c.(439-441)Cgt>Tgt p.R147C NM_178556.3 NP_848651.2 Q8N9V2 TRIML_HUMAN tripartite motif family-like 1 147 multicellular organismal development ligase activity|zinc ion binding NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1) 60 all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062) OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156) GAATCTTTTGCGTGTAAGGAG 0.473000 8 51 0 0 1 0 0 LRFN5 145581 broad.mit.edu 37 14 42356845 42356845 + Missense_Mutation SNP C C A TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr14:42356845C>A ENST00000554171.1 + 5 3449 c.1017C>A c.(1015-1017)aaC>aaA p.N339K LRFN5_ENST00000554120.1_Missense_Mutation_p.N339K|LRFN5_ENST00000298119.4_Missense_Mutation_p.N339K Q96NI6 LRFN5_HUMAN leucine rich repeat and fibronectin type III domain containing 5 339 Ig-like. integral to membrane breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2) 120 LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728) GBM - Glioblastoma multiforme(112;0.00847) TGTATGATAACGGAACACTTG 0.448000 HNSCC(30;0.082) 47 72 4.02871e-13 5.80359e-13 1 1 0 U2SURP 23350 broad.mit.edu 37 3 142769829 142769829 + Nonsense_Mutation SNP A A T TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr3:142769829A>T ENST00000397933.2 + 24 2648 c.1366A>T c.(1366-1368)Aaa>Taa p.K456* U2SURP_ENST00000473835.2_Nonsense_Mutation_p.K865*|U2SURP_ENST00000493598.2_Nonsense_Mutation_p.K864* O15042 SR140_HUMAN U2 snRNP-associated SURP domain containing 865 RNA processing nucleus nucleotide binding|RNA binding NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1) 31 GAAAAGACCTAAAAAACCAGG 0.318000 5 17 0 0 1 0 0 SYNDIG1 79953 broad.mit.edu 37 20 24524042 24524042 + Silent SNP G G C TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr20:24524042G>C ENST00000376862.3 + 2 942 c.309G>C c.(307-309)ggG>ggC p.G103G NM_024893.1 NP_079169.1 Q9H7V2 SYNG1_HUMAN synapse differentiation inducing 1 103 response to biotic stimulus early endosome membrane|integral to membrane|plasma membrane breast(2)|endometrium(1)|large_intestine(3)|lung(14)|prostate(1)|skin(3) 24 GCTCCTGGGGGGACGGTGTGG 0.632000 22 84 0 0 1 0 0 POU6F1 5463 broad.mit.edu 37 12 51590712 51590712 + Splice_Site SNP T T A TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr12:51590712T>A ENST00000389243.4 - 7 856 c.e7-2 POU6F1_ENST00000333640.10_Splice_Site|POU6F1_ENST00000550824.1_5'UTR Q14863 PO6F1_HUMAN POU class 6 homeobox 1 brain development|heart development|muscle organ development nucleus sequence-specific DNA binding transcription factor activity breast(2)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1) 11 AGCACTGATCTGTGGGTGGAG 0.597000 4 19 0 0 1 0 0 DDHD1 80821 broad.mit.edu 37 14 53619303 53619303 + Missense_Mutation SNP A A T TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr14:53619303A>T ENST00000357758.3 - 1 697 c.514T>A c.(514-516)Tac>Aac p.Y172N DDHD1_ENST00000323669.5_Missense_Mutation_p.Y172N|DDHD1_ENST00000395606.1_Missense_Mutation_p.Y172N NM_030637.2 NP_085140.2 Q8NEL9 DDHD1_HUMAN DDHD domain containing 1 172 lipid catabolic process cytoplasm hydrolase activity|metal ion binding breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(11)|ovary(3)|prostate(1) 25 Breast(41;0.037) TCCTCCTTGTAGAACCAGCGT 0.677000 9 56 0 0 1 0 0 CNTF 1270 broad.mit.edu 37 11 58391799 58391799 + Missense_Mutation SNP G G C TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr11:58391799G>C ENST00000361987.4 + 2 487 c.407G>C c.(406-408)cGc>cCc p.R136P ZFP91-CNTF_ENST00000389919.4_3'UTR NM_000614.3 NP_000605.1 P26441 CNTF_HUMAN ciliary neurotrophic factor 136 ciliary neurotrophic factor-mediated signaling pathway|growth|negative regulation of neuron apoptosis|positive regulation of tyrosine phosphorylation of Stat3 protein ciliary neurotrophic factor receptor binding|growth factor activity|interleukin-6 receptor binding NS(1)|breast(1)|kidney(2)|large_intestine(4)|lung(1)|ovary(1) 10 Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24) AAGATCCCCCGCAATGAGGCT 0.483000 13 39 0 0 1 0 0 KRT35 3886 broad.mit.edu 37 17 39633315 39633315 + Missense_Mutation SNP C C T TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr17:39633315C>T ENST00000246639.2 - 7 1403 c.1271G>A c.(1270-1272)cGg>cAg p.R424Q KRT35_ENST00000393989.1_Missense_Mutation_p.R454Q Q92764 KRT35_HUMAN keratin 35 454 Tail. anatomical structure morphogenesis intermediate filament protein binding|structural molecule activity NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 29 Breast(137;0.000286) CTCTCAGAACCGACCCCCTGG 0.602000 15 49 0 0 1 0 0 SWT1 54823 broad.mit.edu 37 1 185149536 185149536 + Missense_Mutation SNP C C T TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr1:185149536C>T ENST00000367500.4 + 6 1145 c.980C>T c.(979-981)cCa>cTa p.P327L SWT1_ENST00000367501.3_Missense_Mutation_p.P327L NM_017673.6 NP_060143.4 Q5T5J6 SWT1_HUMAN SWT1 RNA endoribonuclease homolog (S. cerevisiae) 327 breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(16)|ovary(1)|prostate(1)|urinary_tract(1) 41 TTTGAAGCACCATGTTGTTCC 0.328000 7 28 0 0 1 0 0 PTPRD 5789 broad.mit.edu 37 9 8340408 8340408 + Missense_Mutation SNP G G A TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr9:8340408G>A ENST00000381196.4 - 39 5731 c.5188C>T c.(5188-5190)Cgg>Tgg p.R1730W PTPRD_ENST00000397606.3_Missense_Mutation_p.R1323W|PTPRD_ENST00000358503.5_Missense_Mutation_p.R1708W|PTPRD_ENST00000360074.4_Missense_Mutation_p.R1717W|PTPRD_ENST00000356435.5_Missense_Mutation_p.R1730W|PTPRD_ENST00000355233.5_Missense_Mutation_p.R1324W|PTPRD_ENST00000397611.3_Missense_Mutation_p.R1320W|PTPRD_ENST00000537002.1_Missense_Mutation_p.R1320W|PTPRD_ENST00000486161.1_Missense_Mutation_p.R1323W|PTPRD_ENST00000540109.1_Missense_Mutation_p.R1730W|PTPRD_ENST00000397617.3_Missense_Mutation_p.R1323W NM_002839.3 NP_002830.1 P23468 PTPRD_HUMAN protein tyrosine phosphatase, receptor type, D 1730 Tyrosine-protein phosphatase 2. transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 168 all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824) all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119) CAGAGCATCCGCCAGAAGTCT 0.473000 TSP Lung(15;0.13) 5 33 0 0 1 0 0 ALK 238 broad.mit.edu 37 2 29543738 29543738 + Silent SNP A A T TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr2:29543738A>T ENST00000389048.3 - 7 2331 c.1425T>A c.(1423-1425)ccT>ccA p.P475P ALK_ENST00000431873.1_Intron NM_004304.4 NP_004295.2 Q9UM73 ALK_HUMAN anaplastic lymphoma receptor tyrosine kinase 475 protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9) NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2) 340 Acute lymphoblastic leukemia(172;0.155) Adenosine triphosphate(DB00171) AAAAACCCACAGGCAGTTTCC 0.502000 """T, Mis, A""" """NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22""" """ALCL, NSCLC, Neuroblastoma""" neuroblastoma Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome 11 74 0 0 1 0 0 OC90 729330 broad.mit.edu 37 8 133053374 133053374 + Missense_Mutation SNP T T A TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr8:133053374T>A ENST00000262283.5 - 9 1061 c.962A>T c.(961-963)gAg>gTg p.E321V OC90_ENST00000254627.3_Missense_Mutation_p.E125V|OC90_ENST00000443356.2_Missense_Mutation_p.E125V|OC90_ENST00000603859.1_Missense_Mutation_p.E125V Q02509 OC90_HUMAN otoconin 90 125 Phospholipase A2-like 2. lipid catabolic process|phospholipid metabolic process calcium ion binding|phospholipase A2 activity NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(23)|ovary(2)|prostate(1)|skin(1) 37 Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000805) AGCGGCCTCCTCATAGCACCT 0.567000 89 89 0 0 1 0 0 HCRTR2 3062 broad.mit.edu 37 6 55113507 55113507 + Silent SNP G G A TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr6:55113507G>A ENST00000370862.3 + 2 630 c.294G>A c.(292-294)ctG>ctA p.L98L NM_001526.3 NP_001517.2 O43614 OX2R_HUMAN hypocretin (orexin) receptor 2 98 feeding behavior integral to plasma membrane neuropeptide receptor activity breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 46 Lung NSC(77;0.107)|Renal(3;0.122) LUSC - Lung squamous cell carcinoma(124;0.23) ATCTTTCTCTGGCTGATGTGC 0.458000 41 133 0 0 1 0 0 EPN2 22905 broad.mit.edu 37 17 19186997 19186997 + Missense_Mutation SNP G G T TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr17:19186997G>T ENST00000314728.5 + 3 1049 c.565G>T c.(565-567)Gcc>Tcc p.A189S EPN2_ENST00000395618.3_Intron|EPN2_ENST00000395620.2_Missense_Mutation_p.A189S|EPN2_ENST00000395626.1_Missense_Mutation_p.A189S|EPN2_ENST00000571254.1_Missense_Mutation_p.A189S|EPN2_ENST00000575595.1_Intron|EPN2_ENST00000347697.2_Missense_Mutation_p.A189S NM_014964.4 NP_055779.2 O95208 EPN2_HUMAN epsin 2 189 endocytosis lipid binding breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|prostate(1)|skin(2)|urinary_tract(1) 19 all_cancers(12;3.11e-05)|all_epithelial(12;0.00121)|Hepatocellular(7;0.00345)|Breast(13;0.143) GTATGGCAAGGCCGGGGGCTC 0.627000 3 22 1.024e-07 1.24085e-07 1 1 0 ZCCHC12 170261 broad.mit.edu 37 X 117960320 117960320 + Missense_Mutation SNP G G T TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chrX:117960320G>T ENST00000310164.2 + 4 1620 c.1113G>T c.(1111-1113)gaG>gaT p.E371D NM_173798.2 NP_776159.1 Q6PEW1 ZCH12_HUMAN zinc finger, CCHC domain containing 12 371 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleic acid binding|zinc ion binding breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2) 22 AGGTTTTTGAGAATTTGATCA 0.498000 11 49 0.000673444 0.000737923 1 1 0 LOC220729 220729 broad.mit.edu 37 3 197348674 197348674 + RNA SNP A A G rs144273946 by1000genomes TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr3:197348674A>G ENST00000418868.1 - 0 585 NR_003266.2 GGCTCTGTCCACCAAATGCAC 0.478000 3 93 0 0 1 0 0 ADAR 103 broad.mit.edu 37 1 154561033 154561033 + Missense_Mutation SNP T T C TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr1:154561033T>C ENST00000368474.4 - 10 3078 c.2879A>G c.(2878-2880)tAt>tGt p.Y960C ADAR_ENST00000368471.3_Missense_Mutation_p.Y665C|ADAR_ENST00000292205.5_Missense_Mutation_p.Y1003C NM_001111.4|NM_015840.3|NM_015841.3 NP_001102.2|NP_056655.2|NP_056656.2 P55265 DSRAD_HUMAN adenosine deaminase, RNA-specific 960 A to I editase. adenosine to inosine editing|gene silencing by RNA|mRNA modification|mRNA processing|type I interferon-mediated signaling pathway cytoplasm|nucleolus|nucleoplasm DNA binding|double-stranded RNA adenosine deaminase activity|metal ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2) 51 all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997) LUSC - Lung squamous cell carcinoma(543;0.185) Colorectal(1306;0.115) AGACCTGATATACAGATGGAA 0.448000 30 108 0 0 1 0 0 DPH5 51611 broad.mit.edu 37 1 101460684 101460684 + Missense_Mutation SNP G G T TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr1:101460684G>T ENST00000370109.3 - 6 624 c.512C>A c.(511-513)tCt>tAt p.S171Y DPH5_ENST00000488176.1_Missense_Mutation_p.S171Y|DPH5_ENST00000427040.2_5'UTR|DPH5_ENST00000342173.7_Missense_Mutation_p.S171Y|DPH5_ENST00000370105.3_5'UTR NM_001077394.1|NM_001077395.1|NM_015958.2 NP_001070862.1|NP_001070863.1|NP_057042.2 Q9H2P9 DPH5_HUMAN diphthamide biosynthesis 5 171 peptidyl-diphthamide biosynthetic process from peptidyl-histidine diphthine synthase activity endometrium(2)|large_intestine(1)|lung(4) 7 all_epithelial(167;3.1e-06)|all_lung(203;0.000414)|Lung NSC(277;0.000946) Epithelial(280;0.0385)|all cancers(265;0.043)|COAD - Colon adenocarcinoma(174;0.151)|Colorectal(144;0.173)|Lung(183;0.198) ATTTTCCAAAGACTGCTCCTT 0.294000 5 19 0.00116845 0.00126684 1 1 0 SOWAHD 347454 broad.mit.edu 37 X 118893356 118893356 + Silent SNP C C A TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chrX:118893356C>A ENST00000343905.3 + 1 781 c.726C>A c.(724-726)gcC>gcA p.A242A NM_001105576.2 NP_001099046.1 A6NJG2 ANR58_HUMAN sosondowah ankyrin repeat domain family member D 242 TGTCGGGAGCCGAGGAATGGG 0.711000 3 5 1 1 1 1 0 ZFYVE26 23503 broad.mit.edu 37 14 68282537 68282537 + Silent SNP C C T TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr14:68282537C>T ENST00000347230.4 - 2 282 c.144G>A c.(142-144)aaG>aaA p.K48K ZFYVE26_ENST00000555452.1_Silent_p.K48K NM_015346.3 NP_056161.2 Q68DK2 ZFY26_HUMAN zinc finger, FYVE domain containing 26 48 cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination centrosome|midbody metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4) 94 all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115) CTTCTACCCTCTTTGGGATAT 0.522000 4 135 0 0 1 0 0 CSTF1 1477 broad.mit.edu 37 20 54972262 54972262 + Splice_Site SNP G G T TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr20:54972262G>T ENST00000217109.4 + 3 521 c.e3-1 CSTF1_ENST00000493039.1_Splice_Site NM_001033521.1|NM_001324.2 NP_001028693.1|NP_001315.1 Q05048 CSTF1_HUMAN cleavage stimulation factor, 3' pre-RNA, subunit 1, 50kDa mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription nucleoplasm protein binding|RNA binding central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1) 15 Colorectal(105;0.202) ATTTCTTTCAGGAATGGAAAA 0.403000 18 43 3.51602e-12 4.89391e-12 1 1 0 HMCN1 83872 broad.mit.edu 37 1 186106702 186106702 + Missense_Mutation SNP G G A TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr1:186106702G>A ENST00000271588.4 + 88 13884 c.13655G>A c.(13654-13656)aGg>aAg p.R4552K HMCN1_ENST00000367492.2_Missense_Mutation_p.R4552K NM_031935.2 NP_114141.2 Q96RW7 HMCN1_HUMAN hemicentin 1 4552 TSP type-1 1. response to stimulus|visual perception basement membrane calcium ion binding NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18) 308 ATCCAAAAGAGGAGTCGTCTG 0.483000 6 34 0 0 1 0 0 ATP7A 538 broad.mit.edu 37 X 77298834 77298834 + Missense_Mutation SNP T T G TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chrX:77298834T>G ENST00000341514.6 + 21 4180 c.4025T>G c.(4024-4026)gTg>gGg p.V1342G ATP7A_ENST00000343533.5_Missense_Mutation_p.V1264G|ATP7A_ENST00000350425.4_Missense_Mutation_p.V345G NM_000052.5 NP_000043.3 Q04656 ATP7A_HUMAN ATPase, Cu++ transporting, alpha polypeptide 1342 ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process basolateral plasma membrane|cytosol|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1) 53 CTGGATGTAGTGGCAAGTATT 0.338000 7 110 0 0 1 0 0 C2CD5 9847 broad.mit.edu 37 12 22631320 22631320 + Missense_Mutation SNP T T A TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr12:22631320T>A ENST00000333957.4 - 15 2084 c.1829A>T c.(1828-1830)cAc>cTc p.H610L C2CD5_ENST00000545552.1_Missense_Mutation_p.H623L|C2CD5_ENST00000542676.1_Missense_Mutation_p.H610L|C2CD5_ENST00000544930.1_Missense_Mutation_p.H425L|C2CD5_ENST00000396028.2_Missense_Mutation_p.H601L|C2CD5_ENST00000536386.1_Missense_Mutation_p.H612L|C2CD5_ENST00000446597.1_Missense_Mutation_p.H610L NM_014802.1 NP_055617.1 C2 calcium-dependent domain containing 5 ATGAGAGATGTGTTGTTCATA 0.368000 8 23 0 0 1 0 0 RXFP1 59350 broad.mit.edu 37 4 159493897 159493897 + Missense_Mutation SNP C C A TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr4:159493897C>A ENST00000307765.5 + 2 348 c.97C>A c.(97-99)Ccc>Acc p.P33T RXFP1_ENST00000423548.1_Missense_Mutation_p.P33T|RXFP1_ENST00000460056.2_5'UTR|RXFP1_ENST00000343542.5_Missense_Mutation_p.P33T|RXFP1_ENST00000448688.2_5'UTR|RXFP1_ENST00000470033.1_Missense_Mutation_p.P33T NM_001253727.1|NM_001253728.1|NM_001253730.1|NM_001253732.1|NM_001253733.1|NM_021634.3 NP_001240656.1|NP_001240657.1|NP_001240659.1|NP_001240661.1|NP_001240662.1|NP_067647.2 Q9HBX9 RXFP1_HUMAN relaxin/insulin-like family peptide receptor 1 33 LDL-receptor class A. integral to membrane|plasma membrane G-protein coupled receptor activity|metal ion binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10) 49 all_hematologic(180;0.24) Renal(120;0.0854) COAD - Colon adenocarcinoma(41;0.0219) TGGCTATTTCCCCTGTGGGAA 0.517000 30 68 2.61193e-14 3.81601e-14 1 1 0 CPT1C 126129 broad.mit.edu 37 19 50208359 50208359 + Missense_Mutation SNP G G T TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr19:50208359G>T ENST00000392518.4 + 9 1239 c.867G>T c.(865-867)caG>caT p.Q289H CPT1C_ENST00000405931.2_Missense_Mutation_p.Q278H|CPT1C_ENST00000323446.5_Missense_Mutation_p.Q289H|CPT1C_ENST00000598293.1_Missense_Mutation_p.Q289H|CPT1C_ENST00000354199.5_Missense_Mutation_p.Q289H NM_001199752.1 NP_001186681.1 Q8TCG5 CPT1C_HUMAN carnitine palmitoyltransferase 1C 289 fatty acid metabolic process integral to membrane|mitochondrial outer membrane carnitine O-palmitoyltransferase activity breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786) TGAACCGCCAGGAGATACCCC 0.662000 17 55 1.78486e-19 2.78547e-19 1 1 0 RAB5B 5869 broad.mit.edu 37 12 56380786 56380786 + Missense_Mutation SNP G G T TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr12:56380786G>T ENST00000360299.5 + 2 263 c.42G>T c.(40-42)caG>caT p.Q14H RAB5B_ENST00000448789.2_Missense_Mutation_p.Q14H|RAB5B_ENST00000553116.1_Missense_Mutation_p.Q14H NM_002868.3 NP_002859.1 P61020 RAB5B_HUMAN RAB5B, member RAS oncogene family 14 protein transport|small GTPase mediated signal transduction early endosome membrane|melanosome|membrane fraction|plasma membrane GTP binding|GTP-dependent protein binding|GTPase activity endometrium(1)|large_intestine(1)|liver(2)|lung(4)|upper_aerodigestive_tract(1) 9 UCEC - Uterine corpus endometrioid carcinoma (6;0.0471)|OV - Ovarian serous cystadenocarcinoma(18;0.235) GGCAACCCCAGGCCAGCAAAA 0.522000 15 50 4.63292e-17 6.91581e-17 1 1 0 RRN3P2 653390 broad.mit.edu 37 16 29110458 29110458 + RNA SNP T T C rs151074589 by1000genomes TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr16:29110458T>C ENST00000564580.1 + 0 1131 p.W375R(25) GAATTTTGAGTGGATAGTGAT 0.328000 5 51 0 0 1 0 0 ZNF300 91975 broad.mit.edu 37 5 150276251 150276251 + Missense_Mutation SNP A A C TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr5:150276251A>C ENST00000446148.2 - 7 1025 c.598T>G c.(598-600)Ttc>Gtc p.F200V ZNF300_ENST00000274599.5_Missense_Mutation_p.F184V|ZNF300_ENST00000418587.2_Missense_Mutation_p.F148V|ZNF300_ENST00000427179.1_3'UTR|ZNF300_ENST00000394226.2_Missense_Mutation_p.F184V NM_001172831.1 NP_001166302.1 Q96RE9 ZN300_HUMAN zinc finger protein 300 184 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(4)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2) 27 Medulloblastoma(196;0.109)|all_hematologic(541;0.131) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) TATTTATGGAATCTCTGTATT 0.328000 15 48 0 0 1 0 0 POLR3B 55703 broad.mit.edu 37 12 106857254 106857254 + Splice_Site SNP A A G TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr12:106857254A>G ENST00000228347.4 + 23 2792 c.e23-1 POLR3B_ENST00000539066.1_Splice_Site NM_018082.5 NP_060552.4 Q9NW08 RPC2_HUMAN polymerase (RNA) III (DNA directed) polypeptide B innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter nucleoplasm DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2) 57 TCTTAACACCAGCTACAAAGG 0.378000 13 38 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179667046 179667046 + Silent SNP G G A TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr2:179667046G>A ENST00000589042.1 - 3 338 c.114C>T c.(112-114)agC>agT p.S38S TTN_ENST00000342992.6_Silent_p.S38S|TTN_ENST00000591111.1_Silent_p.S38S|TTN_ENST00000342175.6_Silent_p.S38S|TTN_ENST00000359218.5_Silent_p.S38S|TTN_ENST00000460472.2_Silent_p.S38S|TTN_ENST00000360870.5_Silent_p.S38S NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 38 Ig-like 1. 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) CCCTAAACCAGCTCACCTCAG 0.522000 4 11 0 0 1 0 0 OR2L8 391190 broad.mit.edu 37 1 248112889 248112889 + Missense_Mutation SNP C C A TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr1:248112889C>A ENST00000357191.3 + 1 730 c.730C>A c.(730-732)Ctc>Atc p.L244I OR2L13_ENST00000366478.2_Intron NM_001001963.1 NP_001001963.1 Q8NGY9 OR2L8_HUMAN olfactory receptor, family 2, subfamily L, member 8 (gene/pseudogene) 244 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3) 42 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0152) CAGCACCCACCTCACTGTAGT 0.458000 30 82 1.96642e-18 3.00061e-18 1 1 0 HTATSF1 27336 broad.mit.edu 37 X 135581829 135581829 + Missense_Mutation SNP G G A TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chrX:135581829G>A ENST00000535601.1 + 3 681 c.259G>A c.(259-261)Gca>Aca p.A87T HTATSF1_ENST00000218364.4_Missense_Mutation_p.A87T NM_001163280.1 NP_001156752.1 O43719 HTSF1_HUMAN HIV-1 Tat specific factor 1 87 regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|viral genome replication nucleus nucleotide binding|protein binding|RNA binding NS(1)|biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(3)|prostate(1) 30 Acute lymphoblastic leukemia(192;0.000127) TAGTTCTACCGCAAATGTTGA 0.458000 4 133 0 0 1 0 0 CSNK1D 1453 broad.mit.edu 37 17 80210968 80210968 + Missense_Mutation SNP C C A TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr17:80210968C>A ENST00000314028.6 - 4 838 c.489G>T c.(487-489)caG>caT p.Q163H CSNK1D_ENST00000578904.1_5'UTR|CSNK1D_ENST00000398519.5_Missense_Mutation_p.Q163H|CSNK1D_ENST00000392334.2_Missense_Mutation_p.Q163H NM_001893.4 NP_001884.2 P48730 KC1D_HUMAN casein kinase 1, delta 163 Protein kinase. circadian regulation of gene expression|DNA repair|G2/M transition of mitotic cell cycle|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|regulation of circadian rhythm|Wnt receptor signaling pathway centrosome|cytosol|nucleus ATP binding|protein binding|protein serine/threonine kinase activity breast(2)|large_intestine(2)|lung(7) 11 Breast(20;0.00136)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.227) OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0155) AGGGGATGTGCTGGTGGGTGC 0.602000 17 97 3.41278e-10 4.47792e-10 1 1 0 ACSF3 197322 broad.mit.edu 37 16 89178532 89178532 + Silent SNP G G T TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr16:89178532G>T ENST00000317447.4 + 5 1232 c.855G>T c.(853-855)ccG>ccT p.P285P ACSF3_ENST00000406948.3_Silent_p.P285P|ACSF3_ENST00000378345.4_Silent_p.P20P NM_001127214.2|NM_001243279.1|NM_174917.3 NP_001120686.1|NP_001230208.1|NP_777577.2 Q4G176 ACSF3_HUMAN acyl-CoA synthetase family member 3 285 fatty acid metabolic process mitochondrion acid-thiol ligase activity|ATP binding central_nervous_system(1)|endometrium(1)|kidney(2)|lung(9)|prostate(1)|urinary_tract(1) 15 BRCA - Breast invasive adenocarcinoma(80;0.0281) CTGAAACGCCGCGGATCAATG 0.532000 49 114 2.24722e-20 3.56098e-20 1 1 0 ZNF716 441234 broad.mit.edu 37 7 57529215 57529215 + Nonsense_Mutation SNP A A T TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr7:57529215A>T ENST00000420713.1 + 4 1160 c.1048A>T c.(1048-1050)Aaa>Taa p.K350* NM_001159279.1 NP_001152751.1 zinc finger protein 716 breast(1)|kidney(1)|lung(20)|ovary(2) 24 TACTGGGGAGAAACTCTACAC 0.398000 4 19 0 0 1 0 0 RBFOX1 54715 broad.mit.edu 37 16 7759094 7759094 + Missense_Mutation SNP C C A TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr16:7759094C>A ENST00000340209.4 + 12 1344 c.1047C>A c.(1045-1047)caC>caA p.H349Q RBFOX1_ENST00000436368.2_Missense_Mutation_p.H365Q|RBFOX1_ENST00000535565.2_Missense_Mutation_p.T319K|RBFOX1_ENST00000547372.1_Missense_Mutation_p.T405K|RBFOX1_ENST00000311745.5_Missense_Mutation_p.H365Q|RBFOX1_ENST00000553186.1_Missense_Mutation_p.H317Q|RBFOX1_ENST00000552089.1_Missense_Mutation_p.T379K|RBFOX1_ENST00000550418.1_Missense_Mutation_p.H344Q|RBFOX1_ENST00000355637.4_Missense_Mutation_p.T383K|RBFOX1_ENST00000547338.1_Missense_Mutation_p.H344Q|RBFOX1_ENST00000422070.4_Missense_Mutation_p.H387Q Q9NWB1 RFOX1_HUMAN RNA binding protein, fox-1 homolog (C. elegans) 1 344 mRNA processing|RNA splicing|RNA transport nucleus|trans-Golgi network nucleotide binding|protein C-terminus binding|RNA binding breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2) 55 CCTACCACCACGCACTTGCTC 0.498000 17 78 0.000295444 0.000327212 1 1 0 DTD1 92675 broad.mit.edu 37 20 18608797 18608797 + Missense_Mutation SNP G G T TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr20:18608797G>T ENST00000377452.3 + 4 577 c.397G>T c.(397-399)Gtg>Ttg p.V133L DTD1_ENST00000494921.1_3'UTR NM_080820.4 NP_543010.3 Q8TEA8 DTD1_HUMAN D-tyrosyl-tRNA deacylase 1 133 D-amino acid catabolic process cytoplasm hydrolase activity, acting on ester bonds large_intestine(4)|lung(1)|ovary(2) 7 CTACATGCAGGTGCACATTCA 0.502000 12 54 0.0202918 0.0212188 1 1 0 ATG16L1 55054 broad.mit.edu 37 2 234178672 234178672 + Missense_Mutation SNP A A T TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr2:234178672A>T ENST00000392017.4 + 6 923 c.666A>T c.(664-666)aaA>aaT p.K222N ATG16L1_ENST00000392020.4_Missense_Mutation_p.K222N|ATG16L1_ENST00000392018.1_Missense_Mutation_p.K222N|ATG16L1_ENST00000498620.1_3'UTR|ATG16L1_ENST00000347464.5_Missense_Mutation_p.K78N|ATG16L1_ENST00000373525.5_Missense_Mutation_p.K78N NM_001190266.1|NM_001190267.1|NM_030803.6 NP_001177195.1|NP_001177196.1|NP_110430.5 Q676U5 A16L1_HUMAN autophagy related 16-like 1 (S. cerevisiae) 222 autophagic vacuole assembly|protein homooligomerization|protein transport autophagic vacuole|pre-autophagosomal structure membrane protein binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(7)|prostate(3)|skin(1) 25 Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0539) Epithelial(121;1.53e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000379)|LUSC - Lung squamous cell carcinoma(224;0.00619)|Lung(119;0.00732)|GBM - Glioblastoma multiforme(43;0.11) GGCTGCAGAAAGAGCTTGCAG 0.428000 19 40 0 0 1 0 0 CAV2 858 broad.mit.edu 37 7 116146056 116146056 + Missense_Mutation SNP A A T TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr7:116146056A>T ENST00000222693.4 + 3 762 c.370A>T c.(370-372)Atg>Ttg p.M124L CAV2_ENST00000343213.2_Missense_Mutation_p.N61I|CAV2_ENST00000462876.1_3'UTR NM_001206747.1|NM_001206748.1|NM_001233.4 NP_001193676.1|NP_001193677.1|NP_001224.1 P51636 CAV2_HUMAN caveolin 2 124 caveola assembly|endoplasmic reticulum organization|mitochondrion organization|negative regulation of endothelial cell proliferation|positive regulation of dopamine receptor signaling pathway|regulation of mitosis|skeletal muscle fiber development|vesicle docking|vesicle fusion caveola|extrinsic to internal side of plasma membrane|Golgi membrane|integral to plasma membrane|membrane fraction|nucleus|perinuclear region of cytoplasm|transport vesicle D1 dopamine receptor binding|protein homodimerization activity large_intestine(1)|lung(1)|skin(1) 3 all_epithelial(6;1.53e-06)|Lung NSC(10;0.00592)|all_lung(10;0.00642) STAD - Stomach adenocarcinoma(10;0.00878) GACCTGCCTAATGGTTCTGCC 0.433000 10 44 0 0 1 0 0 ULK4 54986 broad.mit.edu 37 3 41953070 41953070 + Missense_Mutation SNP G G T TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr3:41953070G>T ENST00000301831.4 - 10 1440 c.978C>A c.(976-978)caC>caA p.H326Q ULK4_ENST00000420927.1_Missense_Mutation_p.H326Q NM_017886.2 NP_060356.2 Q96C45 ULK4_HUMAN unc-51 like kinase 4 326 ATP binding|protein serine/threonine kinase activity breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1) 22 KIRC - Kidney renal clear cell carcinoma(284;0.214) GACCACTCTTGTGCCCTTTTG 0.408000 5 34 3.59834e-05 4.1181e-05 1 1 0 ANKRD20A8P 729171 broad.mit.edu 37 2 95513814 95513814 + RNA SNP C C T TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr2:95513814C>T ENST00000432432.2 - 0 797 NR_040113.1 CCACACATGTCTTGAGCGAAG 0.353000 77 360 0 0 1 0 0 PTPRZ1 5803 broad.mit.edu 37 7 121652317 121652317 + Missense_Mutation SNP A A T TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr7:121652317A>T ENST00000393386.2 + 12 3628 c.3217A>T c.(3217-3219)Aac>Tac p.N1073Y PTPRZ1_ENST00000449182.1_Intron|PTPRZ1_ENST00000483028.1_Intron NM_001206838.1|NM_002851.2 NP_001193767.1|NP_002842.2 P23471 PTPRZ_HUMAN protein tyrosine phosphatase, receptor-type, Z polypeptide 1 1073 central nervous system development integral to plasma membrane protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2) 106 AGTCATGCCCAACATGTATGA 0.393000 16 51 0 0 1 0 0 THSD7B 80731 broad.mit.edu 37 2 137814416 137814416 + Missense_Mutation SNP C C A TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr2:137814416C>A ENST00000409968.1 + 3 744 c.566C>A c.(565-567)tCc>tAc p.S189Y THSD7B_ENST00000413152.2_Missense_Mutation_p.S158Y|THSD7B_ENST00000543459.1_Missense_Mutation_p.S48Y|THSD7B_ENST00000272643.3_Missense_Mutation_p.S189Y thrombospondin, type I, domain containing 7B NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 134 BRCA - Breast invasive adenocarcinoma(221;0.19) TTACCATGGTCCAACTGTAGC 0.488000 71 228 1.91593e-42 3.18292e-42 1 1 0 SFMBT2 57713 broad.mit.edu 37 10 7230597 7230597 + Silent SNP C C T TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr10:7230597C>T ENST00000361972.4 - 16 1887 c.1797G>A c.(1795-1797)acG>acA p.T599T SFMBT2_ENST00000397167.1_Silent_p.T599T NM_001018039.1 NP_001018049.1 Q5VUG0 SMBT2_HUMAN Scm-like with four mbt domains 2 599 regulation of transcription, DNA-dependent nucleus NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 99 TGGCCTTCAGCGTCTCTTCCT 0.443000 11 31 0 0 1 0 0 SIGLEC6 946 broad.mit.edu 37 19 52033113 52033113 + Missense_Mutation SNP G G T TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr19:52033113G>T ENST00000346477.3 - 4 897 c.829C>A c.(829-831)Ctg>Atg p.L277M SIGLEC6_ENST00000436458.1_Missense_Mutation_p.L241M|SIGLEC6_ENST00000359982.4_Missense_Mutation_p.L304M|SIGLEC6_ENST00000343300.4_Missense_Mutation_p.L293M|SIGLEC6_ENST00000391797.3_Missense_Mutation_p.L282M|SIGLEC6_ENST00000425629.3_Missense_Mutation_p.L293M NM_198845.4 NP_942142.3 O43699 SIGL6_HUMAN sialic acid binding Ig-like lectin 6 293 Ig-like C2-type 2. cell adhesion|cell-cell signaling cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1) 28 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165) GTGGCGTTCAGGGCGGGGAAG 0.642000 19 63 3.08376e-08 3.80392e-08 1 1 0 POM121L12 285877 broad.mit.edu 37 7 53104090 53104090 + Silent SNP C C A TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr7:53104090C>A ENST00000408890.4 + 1 742 c.726C>A c.(724-726)ccC>ccA p.P242P NM_182595.3 NP_872401.3 Q8N7R1 P1L12_HUMAN POM121 transmembrane nucleoporin-like 12 242 p.P242P(1) endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 61 GCCTCGGCCCCTGGAGCCTCA 0.647000 8 34 0.307466 0.31201 1 1 0 KRAS 3845 broad.mit.edu 37 12 25398284 25398284 + Missense_Mutation SNP C C G rs121913529 TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr12:25398284C>G ENST00000311936.3 - 2 226 c.35G>C c.(34-36)gGt>gCt p.G12A KRAS_ENST00000557334.1_Missense_Mutation_p.G12A|KRAS_ENST00000256078.4_Missense_Mutation_p.G12A|KRAS_ENST00000556131.1_Missense_Mutation_p.G12A NM_004985.3 NP_004976.2 P01116 RASK_HUMAN Kirsten rat sarcoma viral oncogene homolog 12 G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction plasma membrane GTP binding|GTPase activity|protein binding p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1) UBE2L3/KRAS(2) NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57) 25349 all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12) OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05) GCCTACGCCACCAGCTCCAAC 0.348000 G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS) 119 Mis """pancreatic, colorectal, lung, thyroid, AML, others""" Noonan syndrome;Cardiofaciocutaneous syndrome TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6) 7 29 0 0 1 0 0 SYTL5 94122 broad.mit.edu 37 X 37969597 37969597 + Silent SNP G G A TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chrX:37969597G>A ENST00000357972.5 + 13 2004 c.1458G>A c.(1456-1458)ctG>ctA p.L486L SYTL5_ENST00000456733.2_Silent_p.L508L|TM4SF2_ENST00000465127.1_Intron|SYTL5_ENST00000297875.2_Silent_p.L486L Q8TDW5 SYTL5_HUMAN synaptotagmin-like 5 486 C2 1. intracellular protein transport membrane metal ion binding|Rab GTPase binding central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(23)|prostate(1)|skin(2)|urinary_tract(1) 44 ATACCCAGCTGGAAACAAGAA 0.453000 13 62 0 0 1 0 0 MPPED2 744 broad.mit.edu 37 11 30601847 30601847 + Missense_Mutation SNP G G A TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr11:30601847G>A ENST00000448418.2 - 2 434 c.74C>T c.(73-75)gCa>gTa p.A25V MPPED2_ENST00000358117.5_Missense_Mutation_p.A25V NM_001145399.1 NP_001138871.1 Q15777 MPPD2_HUMAN metallophosphoesterase domain containing 2 25 nervous system development hydrolase activity|metal ion binding NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(15)|skin(2)|upper_aerodigestive_tract(2) 33 GTGCGTGAATGCCTGGGTGGG 0.433000 30 73 0 0 1 0 0 MN1 4330 broad.mit.edu 37 22 28194031 28194031 + Missense_Mutation SNP T T C TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr22:28194031T>C ENST00000302326.4 - 1 3455 c.2501A>G c.(2500-2502)aAc>aGc p.N834S NM_002430.2 NP_002421.3 Q10571 MN1_HUMAN meningioma (disrupted in balanced translocation) 1 834 binding NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 45 GGCGATCATGTTCTGGCAAGC 0.617000 T ETV6 """AML, meningioma""" 34 82 0 0 1 0 0 DCAF4L2 138009 broad.mit.edu 37 8 88885446 88885446 + Missense_Mutation SNP C C T TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr8:88885446C>T ENST00000319675.3 - 1 850 c.754G>A c.(754-756)Gat>Aat p.D252N NM_152418.3 NP_689631.1 Q8NA75 DC4L2_HUMAN DDB1 and CUL4 associated factor 4-like 2 252 breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 83 CAGCGCAGATCAATGCCAAAG 0.507000 12 151 0 0 1 0 0 SS18 6760 broad.mit.edu 37 18 23619334 23619334 + Missense_Mutation SNP T T C TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr18:23619334T>C ENST00000415083.2 - 6 749 c.694A>G c.(694-696)Atg>Gtg p.M232V SS18_ENST00000269137.7_Missense_Mutation_p.M232V|SS18_ENST00000545952.1_Missense_Mutation_p.M180V|SS18_ENST00000542743.1_Missense_Mutation_p.M180V|SS18_ENST00000542420.2_Missense_Mutation_p.M209V|SS18_ENST00000539849.1_Missense_Mutation_p.M150V NM_001007559.1|NM_005637.2 NP_001007560.1|NP_005628.2 Q15532 SSXT_HUMAN synovial sarcoma translocation, chromosome 18 232 Gln-rich. positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus ligand-dependent nuclear receptor transcription coactivator activity|protein binding SS18/SSX2(706)|SS18/SSX1(1169)|SS18/SSX4(12) endometrium(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(1) 19 all_cancers(21;0.000194)|Lung NSC(5;0.000413)|all_lung(6;0.00118)|Ovarian(20;0.124) ATCATTCCCATAGGTGGCTGC 0.478000 T """SSX1, SSX2""" synovial sarcoma 40 110 0 0 1 0 0 DIDO1 11083 broad.mit.edu 37 20 61511164 61511164 + Silent SNP G G A TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr20:61511164G>A ENST00000266070.4 - 16 6469 c.6144C>T c.(6142-6144)tcC>tcT p.S2048S DIDO1_ENST00000395343.1_Silent_p.S2048S NM_033081.2 NP_149072.2 Q9BTC0 DIDO1_HUMAN death inducer-obliterator 1 2048 apoptosis|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1) 99 Breast(26;5.68e-08) AGGAGAGCGCGGAGGGCGGCC 0.721000 19 43 0 0 1 0 0 ARMC5 79798 broad.mit.edu 37 16 31474186 31474186 + Missense_Mutation SNP C C G TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr16:31474186C>G ENST00000457010.2 + 3 2019 c.1318C>G c.(1318-1320)Cct>Gct p.P440A ARMC5_ENST00000538189.1_Missense_Mutation_p.P472A|ARMC5_ENST00000268314.4_Missense_Mutation_p.P440A|ARMC5_ENST00000408912.3_Missense_Mutation_p.P535A|ARMC5_ENST00000563544.1_Missense_Mutation_p.P440A|ARMC5_ENST00000412665.2_Missense_Mutation_p.P84A NM_024742.2 NP_079018.1 Q96C12 ARMC5_HUMAN armadillo repeat containing 5 440 binding central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 28 CTGGGACTTTCCTGAGGAGAG 0.627000 3 14 0 0 1 0 0 FAT4 79633 broad.mit.edu 37 4 126373318 126373318 + Missense_Mutation SNP G G T rs139635339 TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr4:126373318G>T ENST00000394329.3 + 9 11160 c.11147G>T c.(11146-11148)cGt>cTt p.R3716L FAT4_ENST00000335110.5_Missense_Mutation_p.R2014L NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 3716 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 ATCTTACTTCGTCTCGGCGTA 0.468000 29 81 1.06647e-15 1.58053e-15 1 1 0 PPL 5493 broad.mit.edu 37 16 4960865 4960865 + Missense_Mutation SNP C C T TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr16:4960865C>T ENST00000345988.2 - 2 237 c.148G>A c.(148-150)Gcc>Acc p.A50T PPL_ENST00000590782.2_Missense_Mutation_p.A50T NM_002705.4 NP_002696.3 O60437 PEPL_HUMAN periplakin 50 keratinization cytoskeleton|desmosome|mitochondrion|nucleus protein binding|structural constituent of cytoskeleton breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2) 62 TGCATCTTGGCCTCTGTGTCC 0.592000 9 92 0 0 1 0 0 C2CD2L 9854 broad.mit.edu 37 11 118984562 118984562 + Splice_Site SNP C C T TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr11:118984562C>T ENST00000336702.3 + 12 1849 c.1489_splice c.e12-1 p.P497_splice C2CD2L_ENST00000528586.1_Intron NM_014807.3 NP_055622.3 O14523 C2C2L_HUMAN C2CD2-like 496 integral to membrane NS(1)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1) 13 GCACCCCTAGCAGGGGACAGC 0.572000 20 61 0 0 1 0 0 ZYX 7791 broad.mit.edu 37 7 143079991 143079991 + Missense_Mutation SNP G G T rs150223874 TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr7:143079991G>T ENST00000322764.5 + 5 944 c.599G>T c.(598-600)tGg>tTg p.W200L ZYX_ENST00000449423.2_Missense_Mutation_p.W113L|ZYX_ENST00000477373.1_3'UTR|ZYX_ENST00000392910.2_Missense_Mutation_p.W43L NM_001010972.1|NM_003461.4 NP_001010972.1|NP_003452.1 Q15942 ZYX_HUMAN zyxin 200 cell adhesion|cell-cell signaling|interspecies interaction between organisms|signal transduction cell-cell adherens junction|cytoplasm|focal adhesion|integral to plasma membrane|nucleus|stress fiber protein binding|zinc ion binding breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1) 17 Melanoma(164;0.205) CTGCCTCCTTGGAAGTCCCCT 0.637000 11 64 0.00829132 0.00875903 1 1 0 CUBN 8029 broad.mit.edu 37 10 17087120 17087120 + Nonsense_Mutation SNP G G T TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr10:17087120G>T ENST00000377833.4 - 25 3623 c.3558C>A c.(3556-3558)taC>taA p.Y1186* NM_001081.3 NP_001072.2 O60494 CUBN_HUMAN cubilin (intrinsic factor-cobalamin receptor) 1186 CUB 7. cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8) 241 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) CAGAGCTGTGGTAATAGGGCA 0.488000 16 49 6.49762e-13 9.29521e-13 1 1 0 HSPG2 3339 broad.mit.edu 37 1 22207993 22207993 + Missense_Mutation SNP C C T TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr1:22207993C>T ENST00000374695.3 - 14 1736 c.1657G>A c.(1657-1659)Gtg>Atg p.V553M NM_005529.5 NP_005520.4 P98160 PGBM_HUMAN heparan sulfate proteoglycan 2 553 Laminin IV type A 1. angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process basement membrane|extracellular space|plasma membrane protein C-terminus binding breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3) 127 Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223) Becaplermin(DB00102)|Palifermin(DB00039) GTCACATTCACACCTGTGGGT 0.617000 33 94 0 0 1 0 0 SH2D1A 4068 broad.mit.edu 37 X 123480601 123480601 + Missense_Mutation SNP G G T TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chrX:123480601G>T ENST00000371139.4 + 1 408 c.109G>T c.(109-111)Gtg>Ttg p.V37L STAG2_ENST00000469481.1_Intron|SH2D1A_ENST00000470647.1_3'UTR|SH2D1A_ENST00000360027.4_Missense_Mutation_p.V37L NM_001114937.2|NM_002351.4 NP_001108409.1|NP_002342.1 O60880 SH21A_HUMAN SH2 domain containing 1A 37 SH2. cell-cell signaling|cellular defense response cytoplasm SH3/SH2 adaptor activity haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 10 CAGCGAGAGCGTGCCAGGCGT 0.602000 11 97 6.40141e-05 7.24555e-05 1 1 0 INPP5E 56623 broad.mit.edu 37 9 139327515 139327515 + Missense_Mutation SNP G G C TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr9:139327515G>C ENST00000371712.3 - 5 1574 c.1172C>G c.(1171-1173)tCc>tGc p.S391C NM_019892.4 NP_063945.2 Q9NRR6 INP5E_HUMAN inositol polyphosphate-5-phosphatase, 72 kDa 391 cilium axoneme|cytoskeleton|Golgi cisterna membrane inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity NS(1)|endometrium(1)|lung(4)|skin(3) 9 Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;8.36e-06)|Epithelial(140;1.4e-05) GGTCACCGTGGAGCACTCCAC 0.632000 17 33 0 0 1 0 0 TMEM120B 144404 broad.mit.edu 37 12 122190118 122190118 + Silent SNP C C T TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr12:122190118C>T ENST00000449592.2 + 5 551 c.450C>T c.(448-450)gtC>gtT p.V150V TMEM120B_ENST00000540377.1_5'UTR NM_001080825.2 NP_001074294.2 A0PK00 T120B_HUMAN transmembrane protein 120B 150 integral to membrane breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(6) 11 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) OV - Ovarian serous cystadenocarcinoma(86;5.75e-05)|Epithelial(86;0.000128)|BRCA - Breast invasive adenocarcinoma(302;0.238) GTCGATTTGTCCTTCACTACA 0.607000 18 77 0 0 1 0 0 BAZ2B 29994 broad.mit.edu 37 2 160241699 160241699 + Missense_Mutation SNP A A T TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr2:160241699A>T ENST00000392783.2 - 23 4148 c.3653T>A c.(3652-3654)aTc>aAc p.I1218N BAZ2B_ENST00000392782.1_Missense_Mutation_p.I1182N|BAZ2B_ENST00000355831.2_Missense_Mutation_p.I1184N|BAZ2B_ENST00000343439.5_Missense_Mutation_p.I1118N NM_013450.2 NP_038478.2 Q9UIF8 BAZ2B_HUMAN bromodomain adjacent to zinc finger domain, 2B 1218 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1) 82 CAGTTCATTGATCAGGAAAGC 0.438000 18 133 0 0 1 0 0 CHST8 64377 broad.mit.edu 37 19 34263626 34263626 + Silent SNP C C T TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr19:34263626C>T ENST00000262622.3 + 4 1691 c.933C>T c.(931-933)ttC>ttT p.F311F CHST8_ENST00000438847.2_Silent_p.F311F|CHST8_ENST00000434302.1_Silent_p.F311F NM_022467.3 NP_071912.2 Q9H2A9 CHST8_HUMAN carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8 311 carbohydrate biosynthetic process|central nervous system development|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process Golgi membrane|integral to membrane N-acetylgalactosamine 4-O-sulfotransferase activity NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(5) 27 Esophageal squamous(110;0.162) TTCCCGAGTTCGTCCAGTACC 0.652000 5 47 0 0 1 0 0 TPP1 1200 broad.mit.edu 37 11 6637975 6637975 + Missense_Mutation SNP C C G rs141920079 TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr11:6637975C>G ENST00000533371.1 - 6 872 c.74G>C c.(73-75)cGg>cCg p.R25P TPP1_ENST00000299427.6_Missense_Mutation_p.R268P O14773 TPP1_HUMAN tripeptidyl peptidase I 268 bone resorption|cell death|lipid metabolic process|lysosome organization|nervous system development|neuromuscular process controlling balance|peptide catabolic process|protein catabolic process|proteolysis lysosome|melanosome|soluble fraction metal ion binding|peptide binding|protein binding|serine-type endopeptidase activity|tripeptidyl-peptidase activity breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 Medulloblastoma(188;0.00263)|all_neural(188;0.026) Epithelial(150;3.45e-09)|BRCA - Breast invasive adenocarcinoma(625;0.131) AATCCCGGCCCGGCCCCGGCC 0.577000 27 138 0 0 1 0 0 PDE1A 5136 broad.mit.edu 37 2 183387015 183387015 + Missense_Mutation SNP C C A rs137961386 byFrequency TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr2:183387015C>A ENST00000435564.1 - 1 289 c.89G>T c.(88-90)cGc>cTc p.R30L PDE1A_ENST00000410103.1_Missense_Mutation_p.R30L|PDE1A_ENST00000331935.6_Missense_Mutation_p.R30L|PDE1A_ENST00000536095.1_5'UTR|PDE1A_ENST00000358139.2_Missense_Mutation_p.R30L|PDE1A_ENST00000456212.1_Missense_Mutation_p.R30L NM_001258312.1|NM_005019.4 NP_001245241.1|NP_005010.2 P54750 PDE1A_HUMAN phosphodiesterase 1A, calmodulin-dependent 30 Calmodulin-binding (By similarity). activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2) 35 OV - Ovarian serous cystadenocarcinoma(117;0.061) TCCTTTCAGGCGCTGCCACAT 0.418000 7 34 0.000157383 0.000176201 1 1 0 MXRA5 25878 broad.mit.edu 37 X 3238388 3238388 + Silent SNP G G A TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chrX:3238388G>A ENST00000217939.6 - 5 5492 c.5338C>T c.(5338-5340)Ctg>Ttg p.L1780L NM_015419.3 NP_056234.2 Q9NR99 MXRA5_HUMAN matrix-remodelling associated 5 1780 extracellular region NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2) 157 all_lung(23;0.00031)|Lung NSC(23;0.000946) CCAAAGTCCAGATGGAAGGTG 0.522000 11 33 0 0 1 0 0 TUBB4A 10382 broad.mit.edu 37 19 6496074 6496074 + Missense_Mutation SNP C C T TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr19:6496074C>T ENST00000264071.2 - 4 807 c.436G>A c.(436-438)Gga>Aga p.G146R TUBB4A_ENST00000601152.1_3'UTR|TUBB4A_ENST00000540257.1_Missense_Mutation_p.G146R|TUBB4A_ENST00000598006.1_3'UTR P04350 TBB4_HUMAN tubulin, beta 4A class IVa 146 'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization cytosol|microtubule GTP binding|GTPase activity|protein binding|structural molecule activity GTGCCCATTCCGGACCCCGTG 0.637000 8 59 0 0 1 0 0 C15orf26 161502 broad.mit.edu 37 15 81429038 81429038 + Missense_Mutation SNP G G A TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr15:81429038G>A ENST00000286732.4 + 3 424 c.341G>A c.(340-342)aGc>aAc p.S114N NM_173528.2 NP_775799.2 Q6P656 CO026_HUMAN chromosome 15 open reading frame 26 114 endometrium(1)|kidney(4)|large_intestine(5)|lung(6)|skin(1) 17 TGTGGCCTGAGCGCAGTTCAA 0.423000 6 52 0 0 1 0 0 SOX7 83595 broad.mit.edu 37 8 10583375 10583375 + Missense_Mutation SNP C C A TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr8:10583375C>A ENST00000304501.1 - 2 1118 c.1040G>T c.(1039-1041)gGg>gTg p.G347V SOX7_ENST00000553390.1_Missense_Mutation_p.G399V|SOX7_ENST00000554914.1_Missense_Mutation_p.G399V NM_031439.2 NP_113627.1 Q9BT81 SOX7_HUMAN SRY (sex determining region Y)-box 7 347 Sox C-terminal. endoderm formation|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of caspase activity|regulation of canonical Wnt receptor signaling pathway cytoplasm|nucleus transcription regulatory region DNA binding breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 20 COAD - Colon adenocarcinoma(149;0.0732) GGCCATGGCCCCTGTGGCGGA 0.617000 6 45 0.217242 0.221544 1 1 0 ERN2 10595 broad.mit.edu 37 16 23718096 23718096 + Missense_Mutation SNP G G T rs143761786 TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr16:23718096G>T ENST00000256797.4 - 6 778 c.610C>A c.(610-612)Cgc>Agc p.R204S ERN2_ENST00000457008.2_Missense_Mutation_p.R156S NM_033266.3 NP_150296.3 Q76MJ5 ERN2_HUMAN endoplasmic reticulum to nucleus signaling 2 156 apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent endoplasmic reticulum membrane|integral to membrane ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity large_intestine(2)|lung(2)|ovary(2) 6 GBM - Glioblastoma multiforme(48;0.0156) ATGTAGAGGCGGGGGGTGGAG 0.607000 15 62 2.52088e-20 3.96413e-20 1 1 0 VRK2 7444 broad.mit.edu 37 2 58313494 58313494 + Missense_Mutation SNP A A G TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr2:58313494A>G ENST00000435505.2 + 8 1022 c.277A>G c.(277-279)Aaa>Gaa p.K93E VRK2_ENST00000417641.2_Missense_Mutation_p.K93E|VRK2_ENST00000412104.2_Missense_Mutation_p.K93E|VRK2_ENST00000440705.2_Missense_Mutation_p.K70E|VRK2_ENST00000340157.4_Missense_Mutation_p.K93E Q86Y07 VRK2_HUMAN vaccinia related kinase 2 93 Protein kinase. integral to membrane ATP binding|protein binding|protein serine/threonine kinase activity endometrium(4)|kidney(2)|large_intestine(5)|lung(12)|ovary(1) 24 GATAGAACGCAAACAACTTGA 0.274000 15 89 0 0 1 0 0 INVS 27130 broad.mit.edu 37 9 102888823 102888823 + Missense_Mutation SNP G G T TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr9:102888823G>T ENST00000262457.2 + 3 450 c.265G>T c.(265-267)Gcc>Tcc p.A89S INVS_ENST00000374921.3_Missense_Mutation_p.A89S|INVS_ENST00000262456.2_Missense_Mutation_p.A89S|INVS_ENST00000460636.2_3'UTR|INVS_ENST00000541287.1_5'UTR NM_014425.3 NP_055240.2 Q9Y283 INVS_HUMAN inversin 89 negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway cytoplasm|membrane|microtubule|nucleus|spindle calmodulin binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 31 Acute lymphoblastic leukemia(62;0.056) CCATCTTGCAGCCCAGAAGGT 0.428000 17 45 7.45023e-12 1.03003e-11 1 1 0 TRAV3 28690 broad.mit.edu 37 14 22192122 22192122 + RNA SNP G G T TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr14:22192122G>T ENST00000390425.2 + 0 163 CCCGCCGTGAGCTTAGCTGGA 0.577000 62 146 1.55545e-33 2.54303e-33 1 1 0 UROC1 131669 broad.mit.edu 37 3 126219611 126219611 + Nonsense_Mutation SNP G G A TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr3:126219611G>A ENST00000290868.2 - 11 1125 c.1072C>T c.(1072-1074)Cag>Tag p.Q358* UROC1_ENST00000383579.3_Nonsense_Mutation_p.Q418* NM_144639.2 NP_653240.1 Q96N76 HUTU_HUMAN urocanate hydratase 1 358 histidine catabolic process cytosol urocanate hydratase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1) 39 GBM - Glioblastoma multiforme(114;0.17) AAGCTGAGCTGCACAGGGTAG 0.602000 14 98 0 0 1 0 0 ITGAX 3687 broad.mit.edu 37 16 31384586 31384586 + Missense_Mutation SNP G G T TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr16:31384586G>T ENST00000268296.4 + 20 2504 c.2383G>T c.(2383-2385)Gtg>Ttg p.V795L ITGAX_ENST00000562522.1_Missense_Mutation_p.V795L NM_000887.3 NP_000878.2 P20702 ITAX_HUMAN integrin, alpha X (complement component 3 receptor 4 subunit) 795 blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis integrin complex protein binding|receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 77 GTCCCTGCTGGTGGGGAGTAA 0.542000 18 79 4.35082e-09 5.53252e-09 1 1 0 ACAN 176 broad.mit.edu 37 15 89382237 89382237 + Silent SNP C C A TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr15:89382237C>A ENST00000439576.2 + 3 788 c.414C>A c.(412-414)ggC>ggA p.G138G ACAN_ENST00000558207.1_Silent_p.G138G|ACAN_ENST00000559004.1_Silent_p.G138G|ACAN_ENST00000352105.7_Silent_p.G138G|ACAN_ENST00000561243.1_Silent_p.G138G NM_013227.3 NP_037359.3 E7EX88 E7EX88_HUMAN aggrecan 138 cell adhesion hyaluronic acid binding|sugar binding NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 93 Lung NSC(78;0.0392)|all_lung(78;0.077) BRCA - Breast invasive adenocarcinoma(143;0.146) TGATGCATGGCATCGAGGACA 0.607000 13 56 1.49906e-05 1.72517e-05 1 1 0 SRGAP2-AS1 100873165 broad.mit.edu 37 1 121137791 121137793 + RNA DEL CCA CCA - rs28552466 by1000genomes TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr1:121137791_121137793delCCA ENST00000437515.1 - 0 329 ATTTCGCCCTCCACCGCCGCCGC 0.631 5 6 --- --- --- --- OR2M3 127062 broad.mit.edu 37 1 248366489 248366489 + Frame_Shift_Del DEL G G - rs143468114 TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr1:248366489delG ENST00000456743.1 + 1 158 c.120delG c.(118-120)atfs p.M40fs NM_001004689.1 NP_001004689.1 Q8NG83 OR2M3_HUMAN olfactory receptor, family 2, subfamily M, member 3 40 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 50 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0245) TGGCCTTCATGGGAAACTCTG 0.542 53 328 --- --- --- --- LINC01115 339822 broad.mit.edu 37 2 856797 856798 + RNA DEL CC CC - TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr2:856797_856798delCC ENST00000414556.1 - 0 309 NR_033880.1 tattcctcagccccccccttat 0.604 2 4 --- --- --- --- ARL4A 10124 broad.mit.edu 37 7 12727948 12727976 + Frame_Shift_Del DEL TGTTATTCTGGGTTTGGACTGTGCTGGAA TGTTATTCTGGGTTTGGACTGTGCTGGAA - rs144595174 byFrequency TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr7:12727948_12727976delTGTTATTCTGGGTTTGGACTGTGCTGGAA ENST00000396663.1 + 2 551_579 c.69_97delTGTTATTCTGGGTTTGGACTGTGCTGGAA c.(67-99)atagfs p.IVILGLDCAGK23fs ARL4A_ENST00000396664.2_Frame_Shift_Del_p.IVILGLDCAGK23fs|ARL4A_ENST00000356797.3_Frame_Shift_Del_p.IVILGLDCAGK23fs|ARL4A_ENST00000396662.1_Frame_Shift_Del_p.IVILGLDCAGK23fs|ARL4A_ENST00000404894.1_Frame_Shift_Del_p.IVILGLDCAGK23fs NM_001037164.2|NM_001195396.1|NM_005738.4|NM_212460.3 NP_001032241.1|NP_001182325.1|NP_005729.1|NP_997625.1 P40617 ARL4A_HUMAN ADP-ribosylation factor-like 4A 23 small GTPase mediated signal transduction cytoplasm|nucleolus|plasma membrane GTP binding|protein binding NS(2)|lung(3)|ovary(1) 6 UCEC - Uterine corpus endometrioid carcinoma (126;0.176) CTTTCCACATTGTTATTCTGGGTTTGGACTGTGCTGGAAAGACAACTGT 0.406 7 83 --- --- --- --- SSPO 23145 broad.mit.edu 37 7 149515189 149515189 + RNA DEL A A - rs112122477 TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr7:149515189delA ENST00000378016.2 + 0 11577 A2VEC9 SSPO_HUMAN SCO-spondin cell adhesion extracellular space peptidase inhibitor activity Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) GACCTCGAGTAACTGCCCCAG 0.667 4 7 --- --- --- --- FAM86B3P 286042 broad.mit.edu 37 8 8097122 8097123 + RNA INS - - T rs148799888 TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr8:8097122_8097123insT ENST00000523017.1 - 0 548 TTCTGATAGAAttttttttttt 0.426 6 10 --- --- --- --- DOCK8 81704 broad.mit.edu 37 9 420560 420561 + Frame_Shift_Del DEL TG TG - TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr9:420560_420561delTG ENST00000432829.2 + 31 4112_4113 c.3796_3797delTG c.(3796-3798)tfs p.C1266fs DOCK8_ENST00000453981.1_Frame_Shift_Del_p.C1334fs|DOCK8_ENST00000493666.2_3'UTR|DOCK8_ENST00000382329.1_Frame_Shift_Del_p.C801fs|DOCK8_ENST00000469391.1_Frame_Shift_Del_p.C1234fs NM_203447.3 NP_982272.2 Q8NF50 DOCK8_HUMAN dedicator of cytokinesis 8 1334 blood coagulation cytosol GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 65 all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128) all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942) ACTTTTCATCTGTGTGTTATGT 0.411 8 110 --- --- --- --- ADAMTSL1 92949 broad.mit.edu 37 9 18533290 18533290 + Splice_Site DEL G G - TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr9:18533290delG ENST00000380548.4 + 3 576 c.237_splice c.e3+1 p.V79_splice ADAMTSL1_ENST00000380566.4_Splice_Site_p.V79_splice|ADAMTSL1_ENST00000380570.4_Splice_Site_p.V79_splice|ADAMTSL1_ENST00000276935.6_Splice_Site_p.V79_splice|ADAMTSL1_ENST00000327883.7_Splice_Site_p.V79_splice|ADAMTSL1_ENST00000431052.2_Splice_Site_p.V79_splice NM_001040272.5 NP_001035362.3 Q8N6G6 ATL1_HUMAN ADAMTS-like 1 79 TSP type-1 1. proteinaceous extracellular matrix metallopeptidase activity|zinc ion binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 42 GBM - Glioblastoma multiforme(50;1.29e-17) GCAGTAATGTGGTAAGTATAA 0.333 16 45 --- --- --- --- ABO 28 broad.mit.edu 37 9 136131057 136131057 + RNA DEL G G - rs8176750 TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr9:136131057delG ENST00000453660.2 - 0 1071 P16442 BGAT_HUMAN ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase) protein glycosylation extracellular region|Golgi cisterna membrane|integral to Golgi membrane fucosylgalactoside 3-alpha-galactosyltransferase activity|glycoprotein-fucosylgalactoside alpha-N-acetylgalactosaminyltransferase activity|metal ion binding p.P353fs?(1) central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(2)|prostate(1)|stomach(2) 11 OV - Ovarian serous cystadenocarcinoma(145;5.82e-06)|Epithelial(140;3.45e-05) AGCCGCTCACGGGTTCCGGAC 0.662 7 1 --- --- --- --- CNTF 1270 broad.mit.edu 37 11 58391793 58391794 + Frame_Shift_Ins INS - - C TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr11:58391793_58391794insC ENST00000361987.4 + 2 481_482 c.401_402insC c.(400-402)accfs p.T134fs ZFP91-CNTF_ENST00000389919.4_3'UTR NM_000614.3 NP_000605.1 P26441 CNTF_HUMAN ciliary neurotrophic factor 134 ciliary neurotrophic factor-mediated signaling pathway|growth|negative regulation of neuron apoptosis|positive regulation of tyrosine phosphorylation of Stat3 protein ciliary neurotrophic factor receptor binding|growth factor activity|interleukin-6 receptor binding NS(1)|breast(1)|kidney(2)|large_intestine(4)|lung(1)|ovary(1) 10 Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24) GAATACAAGATCCCCCGCAATG 0.480 12 44 --- --- --- --- ATM 472 broad.mit.edu 37 11 108128207 108128208 + Splice_Site INS - - T TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr11:108128207_108128208insT ENST00000278616.4 + 15 2635_2636 c.e15-1 ATM_ENST00000452508.2_Splice_Site NM_000051.3 NP_000042.3 Q13315 ATM_HUMAN ataxia telangiectasia mutated cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence cytoplasmic membrane-bounded vesicle|nucleoplasm 1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 448 all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147) ATTCACAATAGTCTCTAATGCA 0.297 """D, Mis, N, F, S""" T-PLL """leukemia, lymphoma, medulloblastoma, glioma""" Genes defective in diseases associated with sensitivity to DNA damaging agents Ataxia Telangiectasia TSP Lung(14;0.12) 7 41 --- --- --- --- TBX3 6926 broad.mit.edu 37 12 115118942 115118942 + Frame_Shift_Del DEL A A - TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr12:115118942delA ENST00000349155.2 - 2 1362 c.399delT c.(397-399)ttfs p.F133fs TBX3_ENST00000257566.3_Frame_Shift_Del_p.F133fs NM_005996.3 NP_005987.3 O15119 TBX3_HUMAN T-box 3 133 anterior/posterior axis specification, embryo|anti-apoptosis|cell aging|embryonic arm morphogenesis|embryonic digit morphogenesis|female genitalia development|follicle-stimulating hormone secretion|luteinizing hormone secretion|male genitalia development|mesoderm morphogenesis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle|positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter|skeletal system development nucleus sequence-specific DNA binding breast(5)|endometrium(1)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 Medulloblastoma(191;0.163)|all_neural(191;0.178) BRCA - Breast invasive adenocarcinoma(302;0.0574) TAAATGGAGGAAACATTCGCC 0.328 14 101 --- --- --- --- AATF 26574 broad.mit.edu 37 17 35378272 35378273 + Frame_Shift_Ins INS - - A TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr17:35378272_35378273insA ENST00000225402.5 + 10 1757_1758 c.1506_1507insA c.(1504-1509)caaaaafs p.QK502fs NM_012138.3 NP_036270.1 Q9NY61 AATF_HUMAN apoptosis antagonizing transcription factor 502 anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|negative regulation of superoxide anion generation|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to DNA damage stimulus centrosome|focal adhesion|nucleolus leucine zipper domain binding|sequence-specific DNA binding transcription factor activity cervix(2)|endometrium(1)|large_intestine(4)|lung(7)|ovary(2)|skin(2) 18 Breast(25;0.00607) GCAAAATCCACAAAAAAGTAGA 0.361 15 20 --- --- --- --- STK11 6794 broad.mit.edu 37 19 1207090 1207091 + Frame_Shift_Ins INS - - A TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chr19:1207090_1207091insA ENST00000326873.7 + 1 1351_1352 c.178_179insA c.(178-180)cggfs p.R60fs STK11_ENST00000585748.1_Intron NM_000455.4 NP_000446.1 Q15831 STK11_HUMAN serine/threonine kinase 11 60 Protein kinase. anoikis|cell cycle arrest|energy reserve metabolic process|insulin receptor signaling pathway|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation cytosol|nucleus ATP binding|magnesium ion binding|protein serine/threonine kinase activity p.0?(20)|p.?(3)|p.G56fs*4(1) biliary_tract(1)|breast(3)|cervix(35)|gastrointestinal_tract_(site_indeterminate)(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|liver(1)|lung(219)|oesophagus(1)|ovary(4)|pancreas(6)|prostate(2)|skin(15)|small_intestine(1)|stomach(9)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 328 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18) GGAAGGCTCTTACGGCAAGGTG 0.629 14 """D, Mis, N, F, S""" """NSCLC, pancreatic""" """jejunal harmartoma, ovarian, testicular, pancreatic""" Peutz-Jeghers syndrome TSP Lung(3;<1E-08) 18 27 --- --- --- --- FOXO4 4303 broad.mit.edu 37 X 70320642 70320642 + Frame_Shift_Del DEL G G - TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chrX:70320642delG ENST00000374259.3 + 2 894 c.562delG c.(562-564)gcfs p.G188fs FOXO4_ENST00000341558.3_Frame_Shift_Del_p.G133fs NM_001170931.1|NM_005938.3 NP_001164402.1|NP_005929.2 P98177 FOXO4_HUMAN forkhead box O4 188 cell cycle arrest|cell differentiation|embryo development|G1 phase of mitotic cell cycle|insulin receptor signaling pathway|mitotic cell cycle G2/M transition DNA damage checkpoint|muscle organ development|negative regulation of angiogenesis|negative regulation of cell proliferation|negative regulation of smooth muscle cell differentiation|nerve growth factor receptor signaling pathway|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|tissue development cytosol|transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(1) 18 Renal(35;0.156) AGGCAAGAGCGGCAAAgcccc 0.627 OREG0019856 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 9 25 --- --- --- --- SLITRK2 84631 broad.mit.edu 37 X 144904859 144904859 + Frame_Shift_Del DEL A A - TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70fe51ad-3d21-42f5-9ccf-1f8c37560f1b 3d0cb74b-6f66-41bc-8af3-29e99f78ae29 g.chrX:144904859delA ENST00000370490.1 + 1 5171 c.916delA c.(916-918)aafs p.K306fs SLITRK2_ENST00000434188.2_Frame_Shift_Del_p.K306fs|SLITRK2_ENST00000447897.2_Frame_Shift_Del_p.K306fs|SLITRK2_ENST00000428560.2_Frame_Shift_Del_p.K306fs|SLITRK2_ENST00000413937.2_Frame_Shift_Del_p.K306fs Q9H156 SLIK2_HUMAN SLIT and NTRK-like family, member 2 306 integral to membrane NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 86 Acute lymphoblastic leukemia(192;6.56e-05) CCGGCCGCCCAAAATGAGAAA 0.552 18 69 --- --- --- ---