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 DYNC1H1 1778 broad.mit.edu 37 14 102471238 102471238 + Missense_Mutation SNP C C A TCGA-ET-A39P-01A-21D-A19J-08 TCGA-ET-A39P-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34172376-3070-445a-af3c-29481e93ac41 0ebea3ce-cb3b-4026-98a1-486b6d1e2e06 g.chr14:102471238C>A uc001yks.2 + 24 5353 c.5189C>A c.(5188-5190)gCa>gAa p.A1730E NM_001376 NP_001367 Q14204 DYHC1_HUMAN Homo sapiens dynein, cytoplasmic 1, heavy chain 1 (DYNC1H1), mRNA. 1730 Stem (By similarity). G2/M transition of mitotic cell cycle|cytoplasmic mRNA processing body assembly|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport Golgi apparatus|centrosome|cytoplasmic dynein complex|cytosol|microtubule ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 166 TTTGGTAAAGCAACTTCAATT 0.418000 27 35 0 0 1 0 0 EDEM3 80267 broad.mit.edu 37 1 184671950 184671950 + Missense_Mutation SNP T T C TCGA-ET-A39P-01A-21D-A19J-08 TCGA-ET-A39P-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34172376-3070-445a-af3c-29481e93ac41 0ebea3ce-cb3b-4026-98a1-486b6d1e2e06 g.chr1:184671950T>C uc010pom.2 - 18 2645 c.2384A>G c.(2383-2385)gAt>gGt p.D795G EDEM3_uc010pok.2_Missense_Mutation_p.D795G|EDEM3_uc010pol.2_Non-coding_Transcript NM_025191 NP_079467 Q9BZQ6 EDEM3_HUMAN Homo sapiens ER degradation enhancer, mannosidase alpha-like 3 (EDEM3), mRNA. 795 post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding|response to unfolded protein endoplasmic reticulum lumen|endoplasmic reticulum membrane calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 30 CTTACCTCGATCTTTTGCTTT 0.373000 16 34 0 0 1 0 0 ATP2B2 491 broad.mit.edu 37 3 10413502 10413502 + Silent SNP G G C TCGA-ET-A39P-01A-21D-A19J-08 TCGA-ET-A39P-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34172376-3070-445a-af3c-29481e93ac41 0ebea3ce-cb3b-4026-98a1-486b6d1e2e06 g.chr3:10413502G>C uc003bvt.3 - 11 2089 c.1650C>G c.(1648-1650)acC>acG p.T550T ATP2B2_uc003bvv.3_Silent_p.T505T|ATP2B2_uc003bvw.3_Silent_p.T505T|ATP2B2_uc010hdo.3_Silent_p.T255T NM_001001331 NP_001001331 Q01814 AT2B2_HUMAN Homo sapiens ATPase, Ca++ transporting, plasma membrane 2 (ATP2B2), transcript variant 1, mRNA. 550 ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation cytosol|integral to membrane|plasma membrane ATP binding|PDZ domain binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein C-terminus binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2) 74 CCAGAATCTTGGTGGTGTAGG 0.532000 12 31 0 0 1 0 0 SLC35E3 55508 broad.mit.edu 37 12 69140181 69140182 + Missense_Mutation DNP GC GC TT TCGA-ET-A39P-01A-21D-A19J-08 TCGA-ET-A39P-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34172376-3070-445a-af3c-29481e93ac41 0ebea3ce-cb3b-4026-98a1-486b6d1e2e06 g.chr12:69140181_69140182GC>TT uc001suh.3 + 0 246_247 c.24_25GC>TT c.(22-27)gtgcgg>gtTTgg p.R9W NM_018656 NP_061126 Q7Z769 S35E3_HUMAN Homo sapiens solute carrier family 35, member E3 (SLC35E3), mRNA. 9 integral to membrane cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1) 12 Breast(13;2.31e-06)|Renal(347;0.0684) Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00372) TGGACCGAGTGCGGGGCCACTG 0.634000 13 12 0 0 1 0 0 KRTCAP3 200634 broad.mit.edu 37 2 27666263 27666263 + Splice_Site SNP A A C TCGA-ET-A39P-01A-21D-A19J-08 TCGA-ET-A39P-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34172376-3070-445a-af3c-29481e93ac41 0ebea3ce-cb3b-4026-98a1-486b6d1e2e06 g.chr2:27666263A>C uc002rks.3 + 5 528 c.481_splice c.e5-2 p.D161_splice KRTCAP3_uc010ylr.2_Splice_Site_p.D161_splice|KRTCAP3_uc021vfd.1_Splice_Site_p.D161_splice|KRTCAP3_uc002rkt.3_Splice_Site_p.D143_splice NM_173853 NP_776252 Q53RY4 KCP3_HUMAN Homo sapiens keratinocyte associated protein 3 (KRTCAP3), transcript variant 2, mRNA. 161 integral to membrane large_intestine(1)|lung(2) 3 Acute lymphoblastic leukemia(172;0.155) CTTGCTTTTCAGGATACAGCC 0.517000 48 74 0 0 1 0 0 ADAR 103 broad.mit.edu 37 1 154574423 154574423 + Missense_Mutation SNP C C T TCGA-ET-A39P-01A-21D-A19J-08 TCGA-ET-A39P-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34172376-3070-445a-af3c-29481e93ac41 0ebea3ce-cb3b-4026-98a1-486b6d1e2e06 g.chr1:154574423C>T uc001ffh.3 - 1 937 c.695G>A c.(694-696)aGa>aAa p.R232K ADAR_uc021pag.1_5'UTR|ADAR_uc001ffj.3_Missense_Mutation_p.R232K|ADAR_uc001ffi.3_Missense_Mutation_p.R232K|ADAR_uc001ffk.3_5'UTR|ADAR_uc001ffl.1_5'UTR NM_001111 NP_001180424 P55265 DSRAD_HUMAN Homo sapiens adenosine deaminase, RNA-specific (ADAR), transcript variant 1, mRNA. 232 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) TGTGGAGTTTCTGTCTTCCGG 0.527000 32 86 0 0 1 0 0 C1orf146 388649 broad.mit.edu 37 1 92711147 92711147 + Silent SNP T T G TCGA-ET-A39P-01A-21D-A19J-08 TCGA-ET-A39P-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34172376-3070-445a-af3c-29481e93ac41 0ebea3ce-cb3b-4026-98a1-486b6d1e2e06 g.chr1:92711147T>G uc001doq.3 + 5 531 c.459T>G c.(457-459)gcT>gcG p.A153A C1orf146_uc010ote.2_Silent_p.A94A NM_001012425 NP_001012425 Q5VVC0 CA146_HUMAN Homo sapiens chromosome 1 open reading frame 146 (C1orf146), mRNA. 153 breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1) 8 all_lung(203;0.00528)|Lung NSC(277;0.0193) all cancers(265;0.00846)|Epithelial(280;0.0952) TGATAACAGCTAAAGCTTACA 0.328000 23 38 0 0 1 0 0 DMRTB1 63948 broad.mit.edu 37 1 53927304 53927304 + Missense_Mutation SNP C C A TCGA-ET-A39P-01A-21D-A19J-08 TCGA-ET-A39P-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34172376-3070-445a-af3c-29481e93ac41 0ebea3ce-cb3b-4026-98a1-486b6d1e2e06 g.chr1:53927304C>A uc001cvq.1 + 1 791 c.736C>A c.(736-738)Caa>Aaa p.Q246K NM_033067 NP_149056 Q96MA1 DMRTB_HUMAN Homo sapiens DMRT-like family B with proline-rich C-terminal, 1 (DMRTB1), mRNA. 246 Pro-rich. sex differentiation nucleus DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity large_intestine(3)|lung(5)|ovary(1)|skin(1) 10 CAGCCAGTACCAAGGCGGAGG 0.662000 19 20 0 0 1 0 0 FOXR2 139628 broad.mit.edu 37 X 55650232 55650232 + Missense_Mutation SNP T T A TCGA-ET-A39P-01A-21D-A19J-08 TCGA-ET-A39P-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34172376-3070-445a-af3c-29481e93ac41 0ebea3ce-cb3b-4026-98a1-486b6d1e2e06 g.chrX:55650232T>A uc004duo.3 + 0 400 c.88T>A c.(88-90)Tta>Ata p.L30I NM_198451 NP_940853 Q6PJQ5 FOXR2_HUMAN Homo sapiens forkhead box R2 (FOXR2), mRNA. 30 embryo development|organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA 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 biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|prostate(1)|skin(1)|urinary_tract(1) 19 GAGGAATGAGTTATTTCTGCC 0.468000 27 56 0 0 1 0 0 TTLL3 26140 broad.mit.edu 37 3 9876847 9876847 + Missense_Mutation SNP G G C TCGA-ET-A39P-01A-21D-A19J-08 TCGA-ET-A39P-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34172376-3070-445a-af3c-29481e93ac41 0ebea3ce-cb3b-4026-98a1-486b6d1e2e06 g.chr3:9876847G>C uc003btg.3 + 12 2469 c.1993G>C c.(1993-1995)Gaa>Caa p.E665Q TTLL3_uc003btd.4_3'UTR|TTLL3_uc003btc.2_Intron|TTLL3_uc003btf.4_3'UTR|TTLL3_uc003bth.4_3'UTR|TTLL3_uc011atj.2_3'UTR|TTLL3_uc003btj.4_3'UTR|TTLL3_uc003bti.4_3'UTR NM_001025930 NP_001021100 Q9Y4R7 TTLL3_HUMAN Homo sapiens tubulin tyrosine ligase-like family, member 3 (TTLL3), transcript variant 1, mRNA. 665 axoneme assembly|cilium assembly|protein polyglycylation cilium axoneme|cytoplasm|microtubule protein-glycine ligase activity, initiating|tubulin-tyrosine ligase activity central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(2)|skin(1) 26 Medulloblastoma(99;0.227) TTTGAAGTCGGAACAATTCCT 0.587000 16 55 0 0 1 0 0 ZNF668 79759 broad.mit.edu 37 16 31072858 31072858 + Missense_Mutation SNP G G A TCGA-ET-A39P-01A-21D-A19J-08 TCGA-ET-A39P-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34172376-3070-445a-af3c-29481e93ac41 0ebea3ce-cb3b-4026-98a1-486b6d1e2e06 g.chr16:31072858G>A uc021tgt.1 - 3 1816 c.1460C>T c.(1459-1461)cCg>cTg p.P487L ZNF668_uc010cag.2_Missense_Mutation_p.P464L|ZNF668_uc010caf.3_Missense_Mutation_p.P464L|ZNF668_uc002eao.3_Missense_Mutation_p.P464L NM_001172669 NP_078982 Q96K58 ZN668_HUMAN Homo sapiens zinc finger protein 668 (ZNF668), transcript variant 3, mRNA. 464 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1) 27 ACCTGACTCCGGGGGCAGCCC 0.697000 31 65 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-ET-A39P-01A-21D-A19J-08 TCGA-ET-A39P-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34172376-3070-445a-af3c-29481e93ac41 0ebea3ce-cb3b-4026-98a1-486b6d1e2e06 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 36 0 0 1 0 0 abParts 0 broad.mit.edu 37 14 106967198 106967198 + RNA SNP C C T TCGA-ET-A39P-01A-21D-A19J-08 TCGA-ET-A39P-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34172376-3070-445a-af3c-29481e93ac41 0ebea3ce-cb3b-4026-98a1-486b6d1e2e06 g.chr14:106967198C>T uc021ser.1 - 263 c.10302G>A Parts of antibodies, mostly variable regions. TTGATTATTCCCATCCACTCA 0.547000 34 90 0 0 1 0 0 ITGA8 8516 broad.mit.edu 37 10 15688984 15688984 + Silent SNP T T C TCGA-ET-A39P-01A-21D-A19J-08 TCGA-ET-A39P-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34172376-3070-445a-af3c-29481e93ac41 0ebea3ce-cb3b-4026-98a1-486b6d1e2e06 g.chr10:15688984T>C uc001ioc.1 - 11 1068 c.1068A>G c.(1066-1068)gaA>gaG p.E356E ITGA8_uc010qcb.1_Silent_p.E341E NM_003638 NP_003629 P53708 ITA8_HUMAN Homo sapiens integrin, alpha 8 (ITGA8), mRNA. 356 cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development integrin complex receptor activity NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 96 TTTGCCCTACTTCTCTGGGGT 0.502000 8 60 0 0 1 0 0 IL7R 3575 broad.mit.edu 37 5 35874644 35874644 + Splice_Site SNP G G T TCGA-ET-A39P-01A-21D-A19J-08 TCGA-ET-A39P-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34172376-3070-445a-af3c-29481e93ac41 0ebea3ce-cb3b-4026-98a1-486b6d1e2e06 g.chr5:35874644G>T uc003jjs.3 + 6 889 c.800_splice c.e6+1 p.R267_splice IL7R_uc011coo.2_Intron|IL7R_uc011cop.2_Intron NM_002185 NP_002176 P16871 IL7RA_HUMAN Homo sapiens interleukin 7 receptor (IL7R), mRNA. 267 immune response|regulation of DNA recombination extracellular region|integral to membrane antigen binding|interleukin-7 receptor activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3) 126 all_lung(31;0.00015) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202) TGGAAAAAAAGGTGACCTTCT 0.423000 """Mis, O""" """ALL, ETP ALL""" Severe combined immune deficiency 33 51 0 0 1 0 0 TRO 7216 broad.mit.edu 37 X 54955736 54955736 + Missense_Mutation SNP G G T TCGA-ET-A39P-01A-21D-A19J-08 TCGA-ET-A39P-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34172376-3070-445a-af3c-29481e93ac41 0ebea3ce-cb3b-4026-98a1-486b6d1e2e06 g.chrX:54955736G>T uc004dtq.3 + 11 2686 c.2579G>T c.(2578-2580)aGt>aTt p.S860I TRO_uc004dts.3_Intron|TRO_uc004dtr.3_Intron|TRO_uc004dtt.3_Intron|TRO_uc004dtu.3_Intron|TRO_uc004dtv.3_Intron|TRO_uc011mok.2_Missense_Mutation_p.S391I|TRO_uc004dtw.3_Missense_Mutation_p.S463I|TRO_uc004dtx.3_Missense_Mutation_p.S243I NM_001039705 NP_001034794 Q12816 TROP_HUMAN Homo sapiens trophinin (TRO), transcript variant 6, mRNA. 860 62 X 10 AA approximate tandem repeats. embryo implantation|homophilic cell adhesion integral to plasma membrane breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1) 37 GCTGGCTTTAGTGGTGTACTC 0.562000 15 24 0 0 1 0 0 CSMD3 114788 broad.mit.edu 37 8 113358377 113358377 + Missense_Mutation SNP A A G TCGA-ET-A39P-01A-21D-A19J-08 TCGA-ET-A39P-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34172376-3070-445a-af3c-29481e93ac41 0ebea3ce-cb3b-4026-98a1-486b6d1e2e06 g.chr8:113358377A>G uc003ynu.3 - 40 6550 c.6391T>C c.(6391-6393)Tat>Cat p.Y2131H CSMD3_uc003yns.3_Missense_Mutation_p.Y1333H|CSMD3_uc003ynt.3_Missense_Mutation_p.Y2091H|CSMD3_uc011lhx.2_Missense_Mutation_p.Y2027H NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA. 2131 CUB 12. 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 CTGCTGGGATAGTTTCCAGGA 0.388000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 41 62 0 0 1 0 0 OR10A7 121364 broad.mit.edu 37 12 55615054 55615054 + Silent SNP T T A TCGA-ET-A39P-01A-21D-A19J-08 TCGA-ET-A39P-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34172376-3070-445a-af3c-29481e93ac41 0ebea3ce-cb3b-4026-98a1-486b6d1e2e06 g.chr12:55615054T>A uc010spf.2 + 0 246 c.246T>A c.(244-246)ctT>ctA p.L82L NM_001005280 NP_001005280 Q8NGE5 O10A7_HUMAN Homo sapiens olfactory receptor, family 10, subfamily A, member 7 (OR10A7), mRNA. 82 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(1)|lung(11)|ovary(4)|prostate(2)|skin(3) 24 CAAAAATGCTTGTAGATCTAG 0.413000 90 123 0 0 1 0 0 SLC35F1 222553 broad.mit.edu 37 6 118228990 118228992 + In_Frame_Del DEL GCG GCG - TCGA-ET-A39P-01A-21D-A19J-08 TCGA-ET-A39P-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34172376-3070-445a-af3c-29481e93ac41 0ebea3ce-cb3b-4026-98a1-486b6d1e2e06 g.chr6:118228990_118228992delGCG uc003pxx.4 + 0 302_304 c.101_103delGCG c.(100-105)agcggc>agc p.G38del NM_001029858 NP_001025029 Q5T1Q4 S35F1_HUMAN Homo sapiens solute carrier family 35, member F1 (SLC35F1), mRNA. 38 transport integral to membrane breast(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 36 GBM - Glioblastoma multiforme(226;0.217) GCCGAGGGCAGCGGCGGCGGCGG 0.744 3 4 --- --- --- ---