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 TOR1AIP1 26092 broad.mit.edu 37 1 179887369 179887369 + Silent SNP T T C TCGA-ET-A39O-01A-11D-A19J-08 TCGA-ET-A39O-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a11507a1-daee-4179-b87d-4f05601ef99f 6d9a552a-0047-4d57-bb65-6ebfd311a994 g.chr1:179887369T>C uc001gnq.3 + 9 1965 c.1747T>C c.(1747-1749)Tta>Cta p.L583L NM_015602 NP_056417 Q5JTV8 TOIP1_HUMAN Homo sapiens torsin A interacting protein 1 (TOR1AIP1), mRNA. 583 integral to membrane|nuclear inner membrane breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(4)|ovary(2)|skin(1)|urinary_tract(1) 18 GGGCATCTGCTTATAAGAAGT 0.418000 3 41 0 0 1 0 0 LAMP3 27074 broad.mit.edu 37 3 182871615 182871615 + Missense_Mutation SNP G G A TCGA-ET-A39O-01A-11D-A19J-08 TCGA-ET-A39O-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a11507a1-daee-4179-b87d-4f05601ef99f 6d9a552a-0047-4d57-bb65-6ebfd311a994 g.chr3:182871615G>A uc003flh.4 - 1 838 c.614C>T c.(613-615)gCt>gTt p.A205V NM_014398 NP_055213 Q9UQV4 LAMP3_HUMAN Homo sapiens lysosomal-associated membrane protein 3 (LAMP3), mRNA. 205 Thr-rich. cell proliferation integral to membrane|lysosomal membrane breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(2) 28 all_cancers(143;9.14e-14)|Ovarian(172;0.0355) all cancers(12;2.91e-44)|Epithelial(37;5.52e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;4.16e-21) GGCAGGTGCAGCTGTGCGGGT 0.547000 4 105 0 0 1 0 0 PPP2R5C 5527 broad.mit.edu 37 14 102276323 102276323 + Missense_Mutation SNP C C T TCGA-ET-A39O-01A-11D-A19J-08 TCGA-ET-A39O-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a11507a1-daee-4179-b87d-4f05601ef99f 6d9a552a-0047-4d57-bb65-6ebfd311a994 g.chr14:102276323C>T uc001yko.3 + 0 184 c.44C>T c.(43-45)gCg>gTg p.A15V PPP2R5C_uc001ykj.4_Intron|PPP2R5C_uc010txr.2_Intron|PPP2R5C_uc001ykk.3_Intron|PPP2R5C_uc010txt.2_Missense_Mutation_p.A5V|PPP2R5C_uc001ykn.3_Missense_Mutation_p.A15V|PPP2R5C_uc001ykp.3_Missense_Mutation_p.A15V|PPP2R5C_uc010txs.1_Missense_Mutation_p.A5V NM_002719 NP_002710 Q13362 2A5G_HUMAN Homo sapiens protein phosphatase 2, regulatory subunit B', gamma (PPP2R5C), transcript variant 1, mRNA. 15 DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|negative regulation of cell proliferation|proteasomal ubiquitin-dependent protein catabolic process|signal transduction chromosome, centromeric region|nucleus|protein phosphatase type 2A complex protein binding|protein phosphatase type 2A regulator activity breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 20 GTGGTGGATGCGGCCAACTCC 0.498000 3 50 0 0 1 0 0 ATP1A3 478 broad.mit.edu 37 19 42471325 42471325 + Nonsense_Mutation SNP G G T TCGA-ET-A39O-01A-11D-A19J-08 TCGA-ET-A39O-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a11507a1-daee-4179-b87d-4f05601ef99f 6d9a552a-0047-4d57-bb65-6ebfd311a994 g.chr19:42471325G>T uc002osh.3 - 21 3243 c.3089C>A c.(3088-3090)tCg>tAg p.S1030* ATP1A3_uc010xwf.2_Intron|ATP1A3_uc010xwg.2_Intron|ATP1A3_uc002osg.3_Intron|ATP1A3_uc010xwh.2_Intron P13637 AT1A3_HUMAN Homo sapiens ATPase, Na+/K+ transporting, alpha 3 polypeptide (ATP1A3), transcript variant 1, mRNA. 0 ATP biosynthetic process Golgi apparatus|endoplasmic reticulum ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 52 CCAGCAGGGCGAGGGGAGCCT 0.667000 2 8 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-ET-A39O-01A-11D-A19J-08 TCGA-ET-A39O-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a11507a1-daee-4179-b87d-4f05601ef99f 6d9a552a-0047-4d57-bb65-6ebfd311a994 g.chr7:140453136A>T uc003vwc.4 - 14 1860 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333 NP_004324 P15056 BRAF_HUMAN Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA. 600 Protein kinase. V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis). activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1) SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) TCGAGATTTCACTGTAGCTAG 0.368000 V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN) 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 23 62 0 0 1 0 0 SYTL4 94121 broad.mit.edu 37 X 99933584 99933584 + Silent SNP G G A rs144944700 byFrequency TCGA-ET-A39O-01A-11D-A19J-08 TCGA-ET-A39O-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a11507a1-daee-4179-b87d-4f05601ef99f 6d9a552a-0047-4d57-bb65-6ebfd311a994 g.chrX:99933584G>A uc004egd.4 - 17 2027 c.1671C>T c.(1669-1671)ccC>ccT p.P557P SYTL4_uc004egc.3_5'UTR|SYTL4_uc010nnb.3_Silent_p.P229P|SYTL4_uc010nnc.3_Silent_p.P557P|SYTL4_uc004ege.4_Silent_p.P557P|SYTL4_uc004egf.4_Silent_p.P557P NM_080737 NP_542775 Q96C24 SYTL4_HUMAN Homo sapiens synaptotagmin-like 4 (SYTL4), transcript variant 1, mRNA. 557 C2 2. exocytosis|intracellular protein transport extrinsic to membrane|plasma membrane|synaptic vesicle|transport vesicle membrane Rab GTPase binding|neurexin binding|phospholipid binding|transporter activity|zinc ion binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(2) 27 Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) TGTTCCTCATGGGAAGGAGGT 0.493000 3 56 0 0 1 0 0 DCAF12L2 340578 broad.mit.edu 37 X 125299510 125299510 + Missense_Mutation SNP A A T TCGA-ET-A39O-01A-11D-A19J-08 TCGA-ET-A39O-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a11507a1-daee-4179-b87d-4f05601ef99f 6d9a552a-0047-4d57-bb65-6ebfd311a994 g.chrX:125299510A>T uc004euk.2 - 0 571 c.398T>A c.(397-399)aTc>aAc p.I133N NM_001013628 NP_001013650 Q5VW00 DC122_HUMAN Homo sapiens DDB1 and CUL4 associated factor 12-like 2 (DCAF12L2), mRNA. 133 p.R132L(1) NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3) 64 CATGAGGGGGATGCGCGTGAT 0.642000 4 55 0 0 1 0 0 PLK2 10769 broad.mit.edu 37 5 57751948 57751948 + Missense_Mutation SNP G G A TCGA-ET-A39O-01A-11D-A19J-08 TCGA-ET-A39O-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a11507a1-daee-4179-b87d-4f05601ef99f 6d9a552a-0047-4d57-bb65-6ebfd311a994 g.chr5:57751948G>A uc003jrn.3 - 9 1469 c.1289C>T c.(1288-1290)tCt>tTt p.S430F PLK2_uc021xyx.1_Missense_Mutation_p.S416F NM_006622 NP_006613 Q9NYY3 PLK2_HUMAN Homo sapiens polo-like kinase 2 (PLK2), transcript variant 1, mRNA. 430 positive regulation of I-kappaB kinase/NF-kappaB cascade ATP binding|protein binding|protein serine/threonine kinase activity|signal transducer activity endometrium(7)|large_intestine(7)|lung(5)|ovary(3)|prostate(2)|skin(2) 26 all_cancers(5;1.76e-12)|all_epithelial(5;2.09e-13)|all_lung(5;6.64e-05)|Lung NSC(5;0.000127)|Prostate(74;0.055)|Breast(144;0.0602)|Ovarian(174;0.182) OV - Ovarian serous cystadenocarcinoma(10;7.03e-37) GGGTGTTCCAGACCTGGCAAC 0.473000 5 79 0 0 1 0 0 MYBBP1A 10514 broad.mit.edu 37 17 4443214 4443214 + Silent SNP G G A TCGA-ET-A39O-01A-11D-A19J-08 TCGA-ET-A39O-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a11507a1-daee-4179-b87d-4f05601ef99f 6d9a552a-0047-4d57-bb65-6ebfd311a994 g.chr17:4443214G>A uc002fxz.4 - 25 3545 c.3483C>T c.(3481-3483)acC>acT p.T1161T MYBBP1A_uc002fyb.4_Silent_p.T1161T|SPNS2_uc002fxx.2_3'UTR|SPNS2_uc002fxy.2_3'UTR|MYBBP1A_uc002fya.4_Silent_p.T106T|MYBBP1A_uc010vsa.2_Silent_p.T203T NM_001105538 NP_001099008 Q9BQG0 MBB1A_HUMAN Homo sapiens MYB binding protein (P160) 1a (MYBBP1A), transcript variant 1, mRNA. 1161 Required for nuclear and nucleolar localization (By similarity). nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent NLS-dependent protein nuclear import complex|cytoplasm|nucleolus DNA binding|DNA-directed DNA polymerase activity|transcription factor binding breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1) 24 TGGGGCTCTGGGTGGCACTGG 0.572000 13 133 0 0 1 0 0 MST1 4485 broad.mit.edu 37 3 49724384 49724384 + Missense_Mutation SNP C C G TCGA-ET-A39O-01A-11D-A19J-08 TCGA-ET-A39O-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a11507a1-daee-4179-b87d-4f05601ef99f 6d9a552a-0047-4d57-bb65-6ebfd311a994 g.chr3:49724384C>G uc003cxg.3 - 5 796 c.724G>C c.(724-726)Ggc>Cgc p.G242R MST1_uc011bcs.1_Splice_Site_p.G242_splice|MST1_uc010hkx.2_Missense_Mutation_p.G163R|MST1_uc011bct.1_Missense_Mutation_p.G242R|MST1_uc011bcu.1_Non-coding_Transcript|RNF123_uc003cxh.3_5'Flank NM_020998 NP_066278 P26927 HGFL_HUMAN Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) (MST1), mRNA. 228 Kringle 2. proteolysis extracellular region serine-type endopeptidase activity NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2) 41 BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) GCGTACTTGCCCGGCTCGAAG 0.697000 11 20 0 0 1 0 0 DCAF5 8816 broad.mit.edu 37 14 69522320 69522320 + Silent SNP G G A TCGA-ET-A39O-01A-11D-A19J-08 TCGA-ET-A39O-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a11507a1-daee-4179-b87d-4f05601ef99f 6d9a552a-0047-4d57-bb65-6ebfd311a994 g.chr14:69522320G>A uc001xkp.3 - 8 1302 c.1083C>T c.(1081-1083)agC>agT p.S361S DCAF5_uc001xkq.3_Silent_p.S360S NM_003861 NP_003852 Q96JK2 DCAF5_HUMAN Homo sapiens DDB1 and CUL4 associated factor 5 (DCAF5), nuclear gene encoding mitochondrial protein, mRNA. 361 CUL4 RING ubiquitin ligase complex breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|upper_aerodigestive_tract(2) 29 GCTTGTATGGGCTCCAGATCT 0.473000 47 74 0 0 1 0 0 SSPO 23145 broad.mit.edu 37 7 149494406 149494406 + Missense_Mutation SNP G G T TCGA-ET-A39O-01A-11D-A19J-08 TCGA-ET-A39O-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a11507a1-daee-4179-b87d-4f05601ef99f 6d9a552a-0047-4d57-bb65-6ebfd311a994 g.chr7:149494406G>T uc010lpk.3 + 45 6868 c.6868G>T c.(6868-6870)Ggg>Tgg p.G2290W NM_198455 NP_940857 A2VEC9 SSPO_HUMAN Homo sapiens SCO-spondin homolog (Bos taurus) (SSPO), mRNA. 2293 cell adhesion extracellular space peptidase inhibitor activity Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) TGCCCAGCCGGGGCAGCTGCT 0.662000 3 46 0 0 1 0 0 CDK11B 984 broad.mit.edu 37 1 1636450 1636450 + Missense_Mutation SNP G G C TCGA-ET-A39O-01A-11D-A19J-08 TCGA-ET-A39O-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a11507a1-daee-4179-b87d-4f05601ef99f 6d9a552a-0047-4d57-bb65-6ebfd311a994 g.chr1:1636450G>C uc009vks.3 - 12 1459 c.1351C>G c.(1351-1353)Cta>Gta p.L451V CDK11B_uc001ags.1_Intron|CDK11B_uc001agt.1_Intron|CDK11B_uc001aha.1_Intron|CDK11B_uc001agw.1_Intron|CDK11B_uc001agv.1_Intron|CDK11B_uc001agy.1_Intron|CDK11B_uc001agx.1_Intron|CDK11B_uc001agz.1_Intron|SLC35E2B_uc001ahh.4_Intron|CDK11B_uc001ahj.4_5'UTR|CDK11B_uc009vkp.3_Missense_Mutation_p.L68V|CDK11B_uc009vkq.3_Non-coding_Transcript|CDK11B_uc009vkr.3_Missense_Mutation_p.L441V|CDK11B_uc010nys.2_Missense_Mutation_p.L441V|CDK11B_uc010nyt.1_Missense_Mutation_p.L451V NM_024011 NP_076916 P21127 CD11B_HUMAN Homo sapiens cyclin-dependent kinase 11A (CDK11A), transcript variant 1, mRNA. 466 Protein kinase. apoptosis|cell proliferation|mitosis|regulation of cell growth|regulation of mRNA processing|regulation of transcription, DNA-dependent cytoplasm|nucleus ATP binding|cyclin-dependent protein kinase activity|protein binding endometrium(2)|large_intestine(3)|lung(4)|skin(1)|stomach(2) 12 AGCCGCTTTAGAGCCACAATT 0.527000 34 61 0 0 1 0 0 DSE 29940 broad.mit.edu 37 6 116758279 116758279 + Missense_Mutation SNP C C T TCGA-ET-A39O-01A-11D-A19J-08 TCGA-ET-A39O-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a11507a1-daee-4179-b87d-4f05601ef99f 6d9a552a-0047-4d57-bb65-6ebfd311a994 g.chr6:116758279C>T uc011ebg.2 + 5 2804 c.2705C>T c.(2704-2706)gCa>gTa p.A902V DSE_uc003pws.3_Missense_Mutation_p.A883V|DSE_uc003pwt.3_Missense_Mutation_p.A883V|DSE_uc003pwu.3_Missense_Mutation_p.A550V NM_013352 NP_037484 Q9UL01 DSE_HUMAN Homo sapiens dermatan sulfate epimerase (DSE), transcript variant 1, mRNA. 883 dermatan sulfate biosynthetic process Golgi apparatus|endoplasmic reticulum|integral to membrane chondroitin-glucuronate 5-epimerase activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 35 all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234) Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262) TTTGGACAGGCACGGATGGTG 0.418000 37 56 0 0 1 0 0 GALNT7 51809 broad.mit.edu 37 4 174169178 174169178 + Silent SNP A A G TCGA-ET-A39O-01A-11D-A19J-08 TCGA-ET-A39O-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a11507a1-daee-4179-b87d-4f05601ef99f 6d9a552a-0047-4d57-bb65-6ebfd311a994 g.chr4:174169178A>G uc003isz.4 + 1 257 c.174A>G c.(172-174)ggA>ggG p.G58G NM_017423 NP_059119 Q86SF2 GALT7_HUMAN Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 7 (GalNAc-T7) (GALNT7), mRNA. 58 protein O-linked glycosylation Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding central_nervous_system(1)|kidney(3)|large_intestine(5)|liver(1)|lung(9) 19 Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122) all cancers(43;1.87e-18)|Epithelial(43;3.44e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-09)|STAD - Stomach adenocarcinoma(60;0.0019)|GBM - Glioblastoma multiforme(59;0.0119)|LUSC - Lung squamous cell carcinoma(193;0.0199) GCGGCAATGGACTAGCTCCTG 0.478000 5 73 0 0 1 0 0 TBC1D2 55357 broad.mit.edu 37 9 100961815 100961815 + Missense_Mutation SNP G G A TCGA-ET-A39O-01A-11D-A19J-08 TCGA-ET-A39O-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a11507a1-daee-4179-b87d-4f05601ef99f 6d9a552a-0047-4d57-bb65-6ebfd311a994 g.chr9:100961815G>A uc011lvb.2 - 12 2815 c.2635C>T c.(2635-2637)Cgg>Tgg p.R879W TBC1D2_uc004ayp.3_Missense_Mutation_p.R419W|TBC1D2_uc004ayq.3_Missense_Mutation_p.R868W|TBC1D2_uc004ayr.3_Missense_Mutation_p.R661W NM_018421 NP_060891 Q9BYX2 TBD2A_HUMAN Homo sapiens TBC1 domain family, member 2 (TBC1D2), mRNA. 879 cell junction|cytoplasmic membrane-bounded vesicle|nucleus Rab GTPase activator activity p.R868W(1) breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 24 Myeloproliferative disorder(762;0.0255) OV - Ovarian serous cystadenocarcinoma(323;2.55e-37) CGCAGCTGCCGCAGCTGTTTC 0.637000 7 151 0 0 1 0 0