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 MCOLN3 55283 broad.mit.edu 37 1 85486891 85486891 + Silent SNP C C T TCGA-J4-A83L-01A-11D-A34U-08 TCGA-J4-A83L-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe51bd58-bb0e-41cd-aeee-4bf7aa9579a2 fab25240-6b31-4570-b1dc-8e37d42997d0 g.chr1:85486891C>T ENST00000370589.2 - 12 1441 c.1389G>A c.(1387-1389)acG>acA p.T463T MCOLN3_ENST00000341115.4_Silent_p.T407T|MCOLN3_ENST00000474447.1_5'UTR|WDR63_ENST00000370596.1_Intron NM_018298.10 NP_060768.8 Q8TDD5 MCLN3_HUMAN mucolipin 3 463 integral to membrane ion channel activity endometrium(6)|kidney(3)|large_intestine(9)|lung(12)|prostate(3)|skin(1) 34 all cancers(265;0.00957)|Epithelial(280;0.0254) TTTTTGCAAACGTGGCAAACA 0.338000 5 62 0 0 1 0 0 NFIA 4774 broad.mit.edu 37 1 61818241 61818241 + Splice_Site SNP T T G TCGA-J4-A83L-01A-11D-A34U-08 TCGA-J4-A83L-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe51bd58-bb0e-41cd-aeee-4bf7aa9579a2 fab25240-6b31-4570-b1dc-8e37d42997d0 g.chr1:61818241T>G ENST00000403491.3 + 5 1302 c.e5+2 NFIA_ENST00000371189.4_Splice_Site|NFIA_ENST00000371191.1_Splice_Site|NFIA_ENST00000485903.2_Splice_Site|NFIA_ENST00000479364.1_Splice_Site|NFIA_ENST00000407417.3_Splice_Site|NFIA_ENST00000371185.2_Splice_Site|NFIA_ENST00000371184.2_Intron|NFIA_ENST00000371187.3_Splice_Site NM_001134673.3|NM_005595.4 NP_001128145.1|NP_005586.1 Q12857 NFIA_HUMAN nuclear factor I/A DNA replication|viral genome replication cell junction|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding NFIA/EHF(2) endometrium(1)|kidney(2)|large_intestine(8)|lung(20)|pancreas(1)|prostate(1)|skin(1) 34 CTCTACGAGGTAATTTTATTG 0.418000 3 70 0 0 1 0 0 COL12A1 1303 broad.mit.edu 37 6 75887568 75887568 + Missense_Mutation SNP C C G TCGA-J4-A83L-01A-11D-A34U-08 TCGA-J4-A83L-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe51bd58-bb0e-41cd-aeee-4bf7aa9579a2 fab25240-6b31-4570-b1dc-8e37d42997d0 g.chr6:75887568C>G ENST00000322507.8 - 12 2557 c.2248G>C c.(2248-2250)Gtt>Ctt p.V750L COL12A1_ENST00000416123.2_Missense_Mutation_p.V750L|COL12A1_ENST00000345356.6_Intron|COL12A1_ENST00000483888.2_Missense_Mutation_p.V750L NM_004370.5 NP_004361.3 Q99715 COCA1_HUMAN collagen, type XII, alpha 1 750 Fibronectin type-III 4. cell adhesion|collagen fibril organization|skeletal system development collagen type XII|extracellular space extracellular matrix structural constituent conferring tensile strength breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2) 169 TATCTTAAAACTCTCCCTGGA 0.413000 8 147 0 0 1 0 0 CNTNAP5 129684 broad.mit.edu 37 2 125262060 125262060 + Silent SNP G G T TCGA-J4-A83L-01A-11D-A34U-08 TCGA-J4-A83L-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe51bd58-bb0e-41cd-aeee-4bf7aa9579a2 fab25240-6b31-4570-b1dc-8e37d42997d0 g.chr2:125262060G>T ENST00000431078.1 + 8 1615 c.1251G>T c.(1249-1251)ctG>ctT p.L417L NM_130773.2 NP_570129.1 Q8WYK1 CNTP5_HUMAN contactin associated protein-like 5 417 Laminin G-like 2. cell adhesion|signal transduction integral to membrane receptor binding NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3) 176 BRCA - Breast invasive adenocarcinoma(221;0.248) GAACCCTGCTGCTGAGCCTGG 0.522000 9 57 0.00448238 0.00461045 1 1 0 SERPINE1 5054 broad.mit.edu 37 7 100779051 100779051 + Silent SNP C C T TCGA-J4-A83L-01A-11D-A34U-08 TCGA-J4-A83L-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe51bd58-bb0e-41cd-aeee-4bf7aa9579a2 fab25240-6b31-4570-b1dc-8e37d42997d0 g.chr7:100779051C>T ENST00000223095.4 + 7 1213 c.1056C>T c.(1054-1056)aaC>aaT p.N352N SERPINE1_ENST00000445463.2_Silent_p.N337N NM_000602.4 NP_000593.1 P05121 PAI1_HUMAN serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1 352 angiogenesis|cellular response to chemical stimulus|cellular response to lipopolysaccharide|chronological cell aging|defense response to Gram-negative bacterium|fibrinolysis|negative regulation of apoptosis|negative regulation of cell adhesion mediated by integrin|negative regulation of fibrinolysis|negative regulation of plasminogen activation|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell-matrix adhesion|negative regulation of vascular wound healing|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of interleukin-8 production|positive regulation of leukotriene production involved in inflammatory response|positive regulation of monocyte chemotaxis|positive regulation of receptor-mediated endocytosis|regulation of receptor activity extracellular matrix|extracellular space|plasma membrane|platelet alpha granule lumen protease binding|serine-type endopeptidase inhibitor activity central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(3) 20 Lung NSC(181;0.136)|all_lung(186;0.182) Atorvastatin(DB01076)|Dimethyl sulfoxide(DB01093)|Drotrecogin alfa(DB00055)|Simvastatin(DB00641)|Tenecteplase(DB00031)|Troglitazone(DB00197)|Urokinase(DB00013) TCGAGGTGAACGAGAGTGGCA 0.582000 5 50 0 0 1 0 0 PAQR6 79957 broad.mit.edu 37 1 156213664 156213664 + Silent SNP C C T TCGA-J4-A83L-01A-11D-A34U-08 TCGA-J4-A83L-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe51bd58-bb0e-41cd-aeee-4bf7aa9579a2 fab25240-6b31-4570-b1dc-8e37d42997d0 g.chr1:156213664C>T ENST00000335852.1 - 7 1659 c.1044G>A c.(1042-1044)gcG>gcA p.A348A PAQR6_ENST00000368270.1_3'UTR|PAQR6_ENST00000492619.1_5'UTR|PAQR6_ENST00000356983.2_Silent_p.A348A|PAQR6_ENST00000360733.2_Silent_p.A348A|PAQR6_ENST00000292291.5_3'UTR NM_024897.2 NP_079173.2 Q6TCH4 PAQR6_HUMAN progestin and adipoQ receptor family member VI 0 integral to membrane receptor activity lung(4)|ovary(1) 5 Hepatocellular(266;0.158) AGCCTGGACACGCATGCATCT 0.582000 12 202 0 0 1 0 0 MTUS2 23281 broad.mit.edu 37 13 29599806 29599806 + Missense_Mutation SNP G G A TCGA-J4-A83L-01A-11D-A34U-08 TCGA-J4-A83L-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe51bd58-bb0e-41cd-aeee-4bf7aa9579a2 fab25240-6b31-4570-b1dc-8e37d42997d0 g.chr13:29599806G>A ENST00000431530.3 + 1 1059 c.1001G>A c.(1000-1002)gGa>gAa p.G334E NM_001033602.2 NP_001028774.2 Q5JR59 MTUS2_HUMAN microtubule associated tumor suppressor candidate 2 324 cytoplasm|microtubule microtubule binding|protein homodimerization activity NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1) 20 GAACAGGAGGGAAAGGCAGCC 0.532000 6 30 0 0 1 0 0 CCDC8 83987 broad.mit.edu 37 19 46914722 46914722 + Missense_Mutation SNP G G A TCGA-J4-A83L-01A-11D-A34U-08 TCGA-J4-A83L-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe51bd58-bb0e-41cd-aeee-4bf7aa9579a2 fab25240-6b31-4570-b1dc-8e37d42997d0 g.chr19:46914722G>A ENST00000307522.3 - 1 2119 c.1346C>T c.(1345-1347)cCa>cTa p.P449L NM_032040.4 NP_114429.2 Q9H0W5 CCDC8_HUMAN coiled-coil domain containing 8 449 plasma membrane breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 23 OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421) CTGGATACCTGGGGCCCCTGC 0.627000 8 29 0 0 1 0 0 SCN1A 6323 broad.mit.edu 37 2 166900411 166900411 + Missense_Mutation SNP C C T rs121918769 byFrequency TCGA-J4-A83L-01A-11D-A34U-08 TCGA-J4-A83L-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe51bd58-bb0e-41cd-aeee-4bf7aa9579a2 fab25240-6b31-4570-b1dc-8e37d42997d0 g.chr2:166900411C>T ENST00000423058.2 - 11 1828 c.1811G>A c.(1810-1812)cGt>cAt p.R604H SCN1A_ENST00000375405.3_Missense_Mutation_p.R604H|SCN1A_ENST00000409050.1_Missense_Mutation_p.R604H|SCN1A_ENST00000303395.4_Missense_Mutation_p.R604H|AC010127.3_ENST00000595268.1_RNA|AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000595647.1_RNA NM_001165963.1|NM_001202435.1 NP_001159435.1|NP_001189364.1 P35498 SCN1A_HUMAN sodium channel, voltage-gated, type I, alpha subunit 604 R -> H (in SMEI; uncertain pathological significance; dbSNP:rs121918769). voltage-gated sodium channel complex voltage-gated sodium channel activity NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1) 200 Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909) GGAATCTCTACGGCTCTCGTT 0.532000 11 51 0 0 1 0 0 MRVI1 10335 broad.mit.edu 37 11 10649268 10649268 + Missense_Mutation SNP C C T TCGA-J4-A83L-01A-11D-A34U-08 TCGA-J4-A83L-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe51bd58-bb0e-41cd-aeee-4bf7aa9579a2 fab25240-6b31-4570-b1dc-8e37d42997d0 g.chr11:10649268C>T ENST00000547195.1 - 7 972 c.472G>A c.(472-474)Gag>Aag p.E158K MRVI1_ENST00000421747.1_Missense_Mutation_p.E240K|MRVI1_ENST00000552103.1_Missense_Mutation_p.E158K|MRVI1_ENST00000527509.2_Missense_Mutation_p.E158K|MRVI1_ENST00000424001.1_5'UTR|MRVI1_ENST00000423302.2_Missense_Mutation_p.E249K|MRVI1_ENST00000541483.1_Missense_Mutation_p.E249K|MRVI1_ENST00000436272.1_Missense_Mutation_p.E222K|MRVI1_ENST00000558540.1_5'UTR|MRVI1_ENST00000545852.1_5'UTR|MRVI1_ENST00000534266.2_5'UTR|MRVI1_ENST00000531107.1_Missense_Mutation_p.E241K NM_001100163.2|NM_001206881.1 NP_001093633.1|NP_001193810.1 Q9Y6F6 MRVI1_HUMAN murine retrovirus integration site 1 homolog 222 Interaction with PRKG1 (By similarity). platelet activation endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2) 22 all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723) CTCACAGGCTCGCCAGGGTGA 0.557000 16 50 0 0 1 0 0 SIK3 23387 broad.mit.edu 37 11 116827691 116827691 + Silent SNP G G A TCGA-J4-A83L-01A-11D-A34U-08 TCGA-J4-A83L-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe51bd58-bb0e-41cd-aeee-4bf7aa9579a2 fab25240-6b31-4570-b1dc-8e37d42997d0 g.chr11:116827691G>A ENST00000375300.1 - 2 368 c.363C>T c.(361-363)tgC>tgT p.C121C SIK3_ENST00000434315.2_5'UTR|SIK3_ENST00000292055.4_Silent_p.C63C|SIK3_ENST00000375288.1_5'UTR|SIK3_ENST00000542607.1_Silent_p.C63C|SIK3_ENST00000446921.2_Silent_p.C121C Q9Y2K2 SIK3_HUMAN SIK family kinase 3 63 Protein kinase. cytoplasm ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 57 TATGGGGGTGGCAAAGCATCT 0.408000 5 259 0 0 1 0 0 SECISBP2L 9728 broad.mit.edu 37 15 49288768 49288768 + Missense_Mutation SNP A A C TCGA-J4-A83L-01A-11D-A34U-08 TCGA-J4-A83L-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe51bd58-bb0e-41cd-aeee-4bf7aa9579a2 fab25240-6b31-4570-b1dc-8e37d42997d0 g.chr15:49288768A>C ENST00000559471.1 - 17 2682 c.2419T>G c.(2419-2421)Tta>Gta p.L807V SECISBP2L_ENST00000261847.3_Missense_Mutation_p.L762V NM_001193489.1 NP_001180418.1 Q93073 SBP2L_HUMAN SECIS binding protein 2-like 807 breast(1)|endometrium(5)|kidney(8)|large_intestine(12)|lung(11)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1) 46 AGTTCTACTAATTTATTAAAC 0.343000 9 118 0 0 1 0 0 UNC5D 137970 broad.mit.edu 37 8 35579908 35579908 + Missense_Mutation SNP G G A rs144081400 byFrequency TCGA-J4-A83L-01A-11D-A34U-08 TCGA-J4-A83L-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe51bd58-bb0e-41cd-aeee-4bf7aa9579a2 fab25240-6b31-4570-b1dc-8e37d42997d0 g.chr8:35579908G>A ENST00000453357.2 + 9 1339 c.1283G>A c.(1282-1284)cGt>cAt p.R428H UNC5D_ENST00000416672.1_Missense_Mutation_p.R438H|UNC5D_ENST00000420357.1_Missense_Mutation_p.R366H|UNC5D_ENST00000287272.2_Intron|UNC5D_ENST00000404895.2_Missense_Mutation_p.R433H Q6UXZ4 UNC5D_HUMAN unc-5 homolog D (C. elegans) 433 apoptosis|axon guidance integral to membrane receptor activity NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2) 112 READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723) AAAACAGTCCGTCAAGGTCAG 0.552000 19 80 0 0 1 0 0 TBPL2 387332 broad.mit.edu 37 14 55903530 55903530 + Silent SNP G G A TCGA-J4-A83L-01A-11D-A34U-08 TCGA-J4-A83L-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe51bd58-bb0e-41cd-aeee-4bf7aa9579a2 fab25240-6b31-4570-b1dc-8e37d42997d0 g.chr14:55903530G>A ENST00000247219.5 - 2 427 c.357C>T c.(355-357)caC>caT p.H119H NM_199047.2 NP_950248.1 Q6SJ96 TBPL2_HUMAN TATA box binding protein like 2 119 multicellular organismal development|transcription initiation from RNA polymerase II promoter cytoplasm|nucleus DNA binding endometrium(2)|kidney(1)|large_intestine(1)|lung(4) 8 CTTCAGTTTCGTGTTTGCTAA 0.438000 9 44 0 0 1 0 0 WDR48 57599 broad.mit.edu 37 3 39093536 39093536 + Missense_Mutation SNP A A G TCGA-J4-A83L-01A-11D-A34U-08 TCGA-J4-A83L-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe51bd58-bb0e-41cd-aeee-4bf7aa9579a2 fab25240-6b31-4570-b1dc-8e37d42997d0 g.chr3:39093536A>G ENST00000302313.5 + 1 48 c.20A>G c.(19-21)cAg>cGg p.Q7R WDR48_ENST00000418020.1_5'UTR|WDR48_ENST00000396258.3_5'UTR|WDR48_ENST00000544962.1_Missense_Mutation_p.Q7R NM_020839.2 NP_065890.1 Q8TAF3 WDR48_HUMAN WD repeat domain 48 7 interspecies interaction between organisms|protein deubiquitination lysosome|nucleus protein binding breast(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 15 KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738) CATCACCGGCAGAACACAGCA 0.647000 6 17 0 0 1 0 0 USP45 85015 broad.mit.edu 37 6 99936563 99936563 + Silent SNP G G C TCGA-J4-A83L-01A-11D-A34U-08 TCGA-J4-A83L-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe51bd58-bb0e-41cd-aeee-4bf7aa9579a2 fab25240-6b31-4570-b1dc-8e37d42997d0 g.chr6:99936563G>C ENST00000327681.6 - 6 1144 c.612C>G c.(610-612)gtC>gtG p.V204V USP45_ENST00000500704.2_Silent_p.V204V|USP45_ENST00000329966.5_Silent_p.V204V|USP45_ENST00000392738.2_5'UTR|USP45_ENST00000369233.2_Silent_p.V204V|USP45_ENST00000472914.2_Silent_p.V204V NM_001080481.1 NP_001073950.1 Q70EL2 UBP45_HUMAN ubiquitin specific peptidase 45 204 ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(2)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 22 all_cancers(76;0.000208)|Acute lymphoblastic leukemia(125;8.41e-11)|all_hematologic(75;2.56e-07)|all_epithelial(107;0.122)|Colorectal(196;0.133) BRCA - Breast invasive adenocarcinoma(108;0.0718) TTACCTGCATGACTGCATTAA 0.318000 4 138 0 0 1 0 0 TNFRSF10D 8793 broad.mit.edu 37 8 23002139 23002139 + Missense_Mutation SNP G G A TCGA-J4-A83L-01A-11D-A34U-08 TCGA-J4-A83L-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe51bd58-bb0e-41cd-aeee-4bf7aa9579a2 fab25240-6b31-4570-b1dc-8e37d42997d0 g.chr8:23002139G>A ENST00000312584.3 - 7 872 c.778C>T c.(778-780)Cgg>Tgg p.R260W NM_003840.4 NP_003831.2 Q9UBN6 TR10D_HUMAN tumor necrosis factor receptor superfamily, member 10d, decoy with truncated death domain 260 anti-apoptosis|apoptosis integral to membrane TRAIL binding|transmembrane receptor activity endometrium(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 9 Prostate(55;0.0421)|Breast(100;0.067) Colorectal(74;0.0147)|COAD - Colon adenocarcinoma(73;0.0612) GAACGCCGCCGGAAAAGGACC 0.602000 3 42 0 0 1 0 0 RNF10 9921 broad.mit.edu 37 12 120990388 120990388 + Silent SNP T T G TCGA-J4-A83L-01A-11D-A34U-08 TCGA-J4-A83L-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe51bd58-bb0e-41cd-aeee-4bf7aa9579a2 fab25240-6b31-4570-b1dc-8e37d42997d0 g.chr12:120990388T>G ENST00000325954.4 + 3 902 c.441T>G c.(439-441)acT>acG p.T147T RNF10_ENST00000413266.2_Silent_p.T147T NM_014868.4 NP_055683.3 Q8N5U6 RNF10_HUMAN ring finger protein 10 147 Interaction with MEOX2. negative regulation of Schwann cell proliferation|positive regulation of myelination|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|nucleus protein binding|transcription regulatory region DNA binding|zinc ion binding breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|upper_aerodigestive_tract(1) 27 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) TGAATTTCACTTTTGAACCCC 0.498000 5 52 0 0 1 0 0 ETS2 2114 broad.mit.edu 37 21 40190389 40190389 + Silent SNP G G A TCGA-J4-A83L-01A-11D-A34U-08 TCGA-J4-A83L-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe51bd58-bb0e-41cd-aeee-4bf7aa9579a2 fab25240-6b31-4570-b1dc-8e37d42997d0 g.chr21:40190389G>A ENST00000360214.3 + 8 1090 c.630G>A c.(628-630)caG>caA p.Q210Q ETS2_ENST00000360938.3_Silent_p.Q210Q NM_001256295.1 NP_001243224.1 P15036 ETS2_HUMAN v-ets avian erythroblastosis virus E26 oncogene homolog 2 210 positive regulation of transcription, DNA-dependent|skeletal system development nucleus protein binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(2)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 18 Prostate(19;6.33e-08)|all_epithelial(19;0.123) TGCAGACACAGAATTACCCCA 0.552000 5 132 0 0 1 0 0 NCOR1 9611 broad.mit.edu 37 17 15989710 15989710 + Silent SNP G G A TCGA-J4-A83L-01A-11D-A34U-08 TCGA-J4-A83L-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe51bd58-bb0e-41cd-aeee-4bf7aa9579a2 fab25240-6b31-4570-b1dc-8e37d42997d0 g.chr17:15989710G>A ENST00000268712.3 - 23 3320 c.3063C>T c.(3061-3063)ggC>ggT p.G1021G NCOR1_ENST00000395851.1_Silent_p.G1037G NM_006311.3 NP_006302.2 O75376 NCOR1_HUMAN nuclear receptor corepressor 1 1021 Interaction with ETO. cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter nuclear chromatin|spindle microtubule|transcriptional repressor complex histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10) 107 UCEC - Uterine corpus endometrioid carcinoma (92;0.101) GAAGCCGAACGCCTTCAGGGA 0.448000 21 40 0 0 1 0 0 SF3B1 23451 broad.mit.edu 37 2 198267491 198267491 + Missense_Mutation SNP C C G TCGA-J4-A83L-01A-11D-A34U-08 TCGA-J4-A83L-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe51bd58-bb0e-41cd-aeee-4bf7aa9579a2 fab25240-6b31-4570-b1dc-8e37d42997d0 g.chr2:198267491C>G ENST00000335508.5 - 14 1957 c.1866G>C c.(1864-1866)gaG>gaC p.E622D NM_012433.2 NP_036565.2 O75533 SF3B1_HUMAN splicing factor 3b, subunit 1, 155kDa 622 nuclear mRNA splicing, via spliceosome catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex protein binding p.E622D(16) NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 633 OV - Ovarian serous cystadenocarcinoma(117;0.246) TACGGACATACTCATCCATGT 0.423000 Mis myelodysplastic syndrome 6 49 0 0 1 0 0 ZNF322 79692 broad.mit.edu 37 6 26637700 26637700 + Missense_Mutation SNP T T A TCGA-J4-A83L-01A-11D-A34U-08 TCGA-J4-A83L-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe51bd58-bb0e-41cd-aeee-4bf7aa9579a2 fab25240-6b31-4570-b1dc-8e37d42997d0 g.chr6:26637700T>A ENST00000415922.2 - 4 1727 c.1082A>T c.(1081-1083)cAc>cTc p.H361L ZNF322_ENST00000471278.1_Missense_Mutation_p.H361L NM_024639.4 NP_078915.2 Q6U7Q0 Z322A_HUMAN zinc finger protein 322 361 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding TGAACTCTGGTGGAAGCTTTT 0.428000 8 373 0 0 1 0 0 MYCT1 80177 broad.mit.edu 37 6 153043043 153043043 + Missense_Mutation SNP C C A TCGA-J4-A83L-01A-11D-A34U-08 TCGA-J4-A83L-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe51bd58-bb0e-41cd-aeee-4bf7aa9579a2 fab25240-6b31-4570-b1dc-8e37d42997d0 g.chr6:153043043C>A ENST00000367245.5 + 2 371 c.363C>A c.(361-363)aaC>aaA p.N121K MYCT1_ENST00000529453.1_Intron NM_025107.2 NP_079383.2 Q8N699 MYCT1_HUMAN myc target 1 121 nucleus NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 20 Ovarian(120;0.0654) OV - Ovarian serous cystadenocarcinoma(155;1.33e-10)|BRCA - Breast invasive adenocarcinoma(81;0.143) ACGGCCTCAACAGAACTGGAT 0.517000 4 72 0.014758 0.014758 1 1 0 SNHG14 0 broad.mit.edu 37 15 25468443 25468443 + RNA SNP A A G TCGA-J4-A83L-01A-11D-A34U-08 TCGA-J4-A83L-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe51bd58-bb0e-41cd-aeee-4bf7aa9579a2 fab25240-6b31-4570-b1dc-8e37d42997d0 g.chr15:25468443A>G ENST00000453082.2 + 0 885 SNORD115-29_ENST00000362834.1_RNA NR_003343.1 GATGACTTAAAAATCATGCTC 0.502000 22 413 0 0 1 0 0 ALS2CL 259173 broad.mit.edu 37 3 46723007 46723007 + Missense_Mutation SNP A A C TCGA-J4-A83L-01A-11D-A34U-08 TCGA-J4-A83L-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe51bd58-bb0e-41cd-aeee-4bf7aa9579a2 fab25240-6b31-4570-b1dc-8e37d42997d0 g.chr3:46723007A>C ENST00000318962.4 - 12 1340 c.1257T>G c.(1255-1257)tgT>tgG p.C419W ALS2CL_ENST00000415953.1_Missense_Mutation_p.C419W NM_147129.3 NP_667340.2 Q60I27 AL2CL_HUMAN ALS2 C-terminal like 419 endosome organization|regulation of Rho protein signal transduction GTPase activator activity|identical protein binding|Rho guanyl-nucleotide exchange factor activity NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(3)|stomach(2) 29 BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202) TGCCGTAGCCACACATGCTGC 0.602000 8 52 0 0 1 0 0 B3GALT4 8705 broad.mit.edu 37 6 33245516 33245516 + Missense_Mutation SNP C C G TCGA-J4-A83L-01A-11D-A34U-08 TCGA-J4-A83L-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe51bd58-bb0e-41cd-aeee-4bf7aa9579a2 fab25240-6b31-4570-b1dc-8e37d42997d0 g.chr6:33245516C>G ENST00000451237.1 + 1 600 c.320C>G c.(319-321)aCg>aGg p.T107R NM_003782.3 NP_003773.1 O96024 B3GT4_HUMAN UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 4 107 protein glycosylation Golgi membrane|integral to membrane ganglioside galactosyltransferase activity|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|urinary_tract(2) 13 AGGGTACAGACGCTATTCTTG 0.657000 12 92 0 0 1 0 0 ACO1 48 broad.mit.edu 37 9 32408558 32408558 + Missense_Mutation SNP A A G TCGA-J4-A83L-01A-11D-A34U-08 TCGA-J4-A83L-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe51bd58-bb0e-41cd-aeee-4bf7aa9579a2 fab25240-6b31-4570-b1dc-8e37d42997d0 g.chr9:32408558A>G ENST00000379923.1 + 5 519 c.313A>G c.(313-315)Aaa>Gaa p.K105E ACO1_ENST00000309951.5_Missense_Mutation_p.K105E|ACO1_ENST00000541043.1_Missense_Mutation_p.K6E NM_001278352.1 NP_001265281.1 P21399 ACOC_HUMAN aconitase 1, soluble 105 citrate metabolic process|response to iron(II) ion|tricarboxylic acid cycle cytosol|endoplasmic reticulum|Golgi apparatus 4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron-responsive element binding|isocitrate hydro-lyase (cis-aconitate-forming) activity|metal ion binding|protein binding breast(1)|endometrium(7)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 30 LUSC - Lung squamous cell carcinoma(29;0.00813) GBM - Glioblastoma multiforme(74;3.94e-06) TGATGCTGTGAAAAAGTTAGG 0.428000 12 102 0 0 1 0 0 BMS1 9790 broad.mit.edu 37 10 43315737 43315737 + Missense_Mutation SNP G G T TCGA-J4-A83L-01A-11D-A34U-08 TCGA-J4-A83L-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe51bd58-bb0e-41cd-aeee-4bf7aa9579a2 fab25240-6b31-4570-b1dc-8e37d42997d0 g.chr10:43315737G>T ENST00000374518.4 + 16 2697 c.2634G>T c.(2632-2634)gaG>gaT p.E878D NM_014753.3 NP_055568.3 Q14692 BMS1_HUMAN BMS1 ribosome biogenesis factor 878 ribosome assembly nucleolus ATP binding|GTP binding|GTPase activity NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 62 TTCAGTATGAGGGTTTTCGAC 0.433000 6 99 3.59834e-05 3.81e-05 1 1 0 NLRP10 338322 broad.mit.edu 37 11 7982638 7982638 + Missense_Mutation SNP G G A TCGA-J4-A83L-01A-11D-A34U-08 TCGA-J4-A83L-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe51bd58-bb0e-41cd-aeee-4bf7aa9579a2 fab25240-6b31-4570-b1dc-8e37d42997d0 g.chr11:7982638G>A ENST00000328600.2 - 2 682 c.521C>T c.(520-522)tCg>tTg p.S174L NM_176821.3 NP_789791.1 Q86W26 NAL10_HUMAN NLR family, pyrin domain containing 10 174 NACHT. ATP binding breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189) AGTGCCAGCCGACCCCTGTAG 0.547000 4 41 0 0 1 0 0 CDH10 1008 broad.mit.edu 37 5 24509761 24509761 + Silent SNP C C G TCGA-J4-A83L-01A-11D-A34U-08 TCGA-J4-A83L-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe51bd58-bb0e-41cd-aeee-4bf7aa9579a2 fab25240-6b31-4570-b1dc-8e37d42997d0 g.chr5:24509761C>G ENST00000264463.4 - 7 1677 c.1170G>C c.(1168-1170)ctG>ctC p.L390L NM_006727.3 NP_006718.2 Q9Y6N8 CAD10_HUMAN cadherin 10, type 2 (T2-cadherin) 390 Cadherin 4. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.L390L(1) NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4) 185 STAD - Stomach adenocarcinoma(35;0.0556) GAACTTCAAACAGATAGGAGG 0.398000 HNSCC(23;0.051) 13 51 0 0 1 0 0 MCM10 55388 broad.mit.edu 37 10 13213058 13213058 + Silent SNP C C T TCGA-J4-A83L-01A-11D-A34U-08 TCGA-J4-A83L-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe51bd58-bb0e-41cd-aeee-4bf7aa9579a2 fab25240-6b31-4570-b1dc-8e37d42997d0 g.chr10:13213058C>T ENST00000378694.1 + 2 219 c.144C>T c.(142-144)gcC>gcT p.A48A MCM10_ENST00000484800.2_Silent_p.A48A|MCM10_ENST00000378714.3_Silent_p.A48A Q7L590 MCM10_HUMAN minichromosome maintenance complex component 10 48 cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle nucleoplasm metal ion binding|protein binding central_nervous_system(1)|large_intestine(4)|ovary(2)|skin(1)|stomach(1) 9 TCTTTGATGCCGACGGCGACG 0.458000 19 98 0 0 1 0 0 CANT1 124583 broad.mit.edu 37 17 76993228 76993228 + Silent SNP C C T rs149367726 TCGA-J4-A83L-01A-11D-A34U-08 TCGA-J4-A83L-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe51bd58-bb0e-41cd-aeee-4bf7aa9579a2 fab25240-6b31-4570-b1dc-8e37d42997d0 g.chr17:76993228C>T ENST00000302345.2 - 2 971 c.477G>A c.(475-477)gcG>gcA p.A159A CANT1_ENST00000392446.5_Silent_p.A159A|CANT1_ENST00000591773.1_Silent_p.A159A NM_001159773.1|NM_138793.3 NP_001153245.1|NP_620148.1 Q8WVQ1 CANT1_HUMAN calcium activated nucleotidase 1 159 positive regulation of I-kappaB kinase/NF-kappaB cascade endoplasmic reticulum membrane|Golgi cisterna membrane|integral to membrane calcium ion binding|nucleoside-diphosphatase activity|signal transducer activity CANT1/ETV4(3) cervix(1)|endometrium(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1) 16 BRCA - Breast invasive adenocarcinoma(99;0.0362)|OV - Ovarian serous cystadenocarcinoma(97;0.139) TCCCCTTCTCCGCCAGGTGGG 0.567000 T ETV4 prostate 14 155 0 0 1 0 0 COL11A2 1302 broad.mit.edu 37 6 33159977 33159979 + In_Frame_Del DEL AGG AGG - TCGA-J4-A83L-01A-11D-A34U-08 TCGA-J4-A83L-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe51bd58-bb0e-41cd-aeee-4bf7aa9579a2 fab25240-6b31-4570-b1dc-8e37d42997d0 g.chr6:33159977_33159979delAGG ENST00000341947.2 - 1 266_268 c.39_41delCCT c.(37-42)cta>ct p.LL13del COL11A2_ENST00000395194.1_In_Frame_Del_p.LL13del|COL11A2_ENST00000395197.1_In_Frame_Del_p.LL13del|COL11A2_ENST00000357486.1_In_Frame_Del_p.LL13del|COL11A2_ENST00000374712.1_In_Frame_Del_p.LL13del|COL11A2_ENST00000374708.4_In_Frame_Del_p.LL13del|COL11A2_ENST00000374713.1_In_Frame_Del_p.LL13del|COL11A2_ENST00000361917.1_In_Frame_Del_p.LL13del|COL11A2_ENST00000374714.1_In_Frame_Del_p.LL13del NM_080680.2 NP_542411.2 P13942 COBA2_HUMAN collagen, type XI, alpha 2 13 cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development collagen type XI extracellular matrix structural constituent conferring tensile strength|protein binding, bridging biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6) 68 CACCAGAGGTAGGAGGAGGAGGA 0.675 2 4 --- --- --- --- KMT2C 58508 broad.mit.edu 37 7 151836813 151836813 + Frame_Shift_Del DEL T T - TCGA-J4-A83L-01A-11D-A34U-08 TCGA-J4-A83L-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe51bd58-bb0e-41cd-aeee-4bf7aa9579a2 fab25240-6b31-4570-b1dc-8e37d42997d0 g.chr7:151836813delT ENST00000355193.2 - 57 14796 c.14578delA c.(14578-14580)ctfs p.T4860fs KMT2C_ENST00000485655.2_Frame_Shift_Del_p.T8fs|KMT2C_ENST00000262189.6_Frame_Shift_Del_p.T4803fs lysine (K)-specific methyltransferase 2C CGAATGATAGTCCCGATGTAC 0.448 9 95 --- --- --- --- ATAD2 29028 broad.mit.edu 37 8 124368685 124368685 + Frame_Shift_Del DEL A A - TCGA-J4-A83L-01A-11D-A34U-08 TCGA-J4-A83L-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe51bd58-bb0e-41cd-aeee-4bf7aa9579a2 fab25240-6b31-4570-b1dc-8e37d42997d0 g.chr8:124368685delA ENST00000287394.5 - 13 1697 c.1590delT c.(1588-1590)ttfs p.F530fs ATAD2_ENST00000521903.1_5'UTR NM_014109.3 NP_054828.2 Q6PL18 ATAD2_HUMAN ATPase family, AAA domain containing 2 530 regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrion|nucleus ATP binding|ATPase activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2) 48 Lung NSC(37;1.25e-09)|Ovarian(258;0.00838) STAD - Stomach adenocarcinoma(47;0.00288) CAATTTCGTCAAAAAAAATAA 0.413 7 43 --- --- --- --- DENND4A 10260 broad.mit.edu 37 15 66030066 66030066 + Frame_Shift_Del DEL G G - TCGA-J4-A83L-01A-11D-A34U-08 TCGA-J4-A83L-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe51bd58-bb0e-41cd-aeee-4bf7aa9579a2 fab25240-6b31-4570-b1dc-8e37d42997d0 g.chr15:66030066delG ENST00000443035.3 - 7 1234 c.1019delC c.(1018-1020)ctfs p.P340fs DENND4A_ENST00000431932.2_Frame_Shift_Del_p.P340fs NM_001144823.1 NP_001138295.1 Q7Z401 MYCPP_HUMAN DENN/MADD domain containing 4A 340 DENN. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 51 AAGGACATGAGGCCCAGAGAT 0.378 2 4 --- --- --- --- PTPRS 5802 broad.mit.edu 37 19 5223271 5223271 + Frame_Shift_Del DEL G G - TCGA-J4-A83L-01A-11D-A34U-08 TCGA-J4-A83L-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe51bd58-bb0e-41cd-aeee-4bf7aa9579a2 fab25240-6b31-4570-b1dc-8e37d42997d0 g.chr19:5223271delG ENST00000372412.4 - 18 2768 c.2535delC c.(2533-2535)ccfs p.P845fs PTPRS_ENST00000262963.6_Frame_Shift_Del_p.P840fs|PTPRS_ENST00000588552.1_Intron|PTPRS_ENST00000587303.1_Frame_Shift_Del_p.P844fs|PTPRS_ENST00000348075.2_Frame_Shift_Del_p.P822fs|PTPRS_ENST00000353284.2_Intron|PTPRS_ENST00000588012.1_Frame_Shift_Del_p.P822fs|PTPRS_ENST00000592099.1_Intron|PTPRS_ENST00000357368.4_Frame_Shift_Del_p.P844fs Q13332 PTPRS_HUMAN protein tyrosine phosphatase, receptor type, S 844 Fibronectin type-III 6. cell adhesion integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1) 61 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182) GGCTGCCCTCGGGGGTCTGCT 0.726 2 4 --- --- --- ---