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 AOX1 316 broad.mit.edu 37 2 201485429 201485429 + Silent SNP G G C TCGA-H2-A3RI-01A-11D-A21Z-08 TCGA-H2-A3RI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fbcb179-d65d-442d-bfc7-0289d85e1959 2d965468-32aa-4120-a8ca-da4a058ba4ab g.chr2:201485429G>C ENST00000374700.2 + 17 2002 c.1761G>C c.(1759-1761)ctG>ctC p.L587L AOX1_ENST00000485106.1_Intron NM_001159.3 NP_001150.3 Q06278 ADO_HUMAN aldehyde oxidase 1 587 inflammatory response|reactive oxygen species metabolic process cytoplasm 2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 81 Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909) TCATGCATCTGTCTGGTGTGA 0.443000 4 97 0 0 0.009096 0 0 UNC5B 219699 broad.mit.edu 37 10 73055692 73055692 + Missense_Mutation SNP G G A TCGA-H2-A3RI-01A-11D-A21Z-08 TCGA-H2-A3RI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fbcb179-d65d-442d-bfc7-0289d85e1959 2d965468-32aa-4120-a8ca-da4a058ba4ab g.chr10:73055692G>A ENST00000335350.6 + 14 2716 c.2300G>A c.(2299-2301)aGg>aAg p.R767K UNC5B_ENST00000373192.4_Missense_Mutation_p.R756K NM_170744.4 NP_734465.2 Q8IZJ1 UNC5B_HUMAN unc-5 homolog B (C. elegans) 767 apoptosis|axon guidance|regulation of apoptosis integral to membrane breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4) 49 GCCCATTGGAGGAGCAAGCTG 0.632000 3 111 0 0 0.115264 0 0 DNAH9 1770 broad.mit.edu 37 17 11872791 11872791 + Missense_Mutation SNP G G A TCGA-H2-A3RI-01A-11D-A21Z-08 TCGA-H2-A3RI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fbcb179-d65d-442d-bfc7-0289d85e1959 2d965468-32aa-4120-a8ca-da4a058ba4ab g.chr17:11872791G>A ENST00000262442.3 + 69 13476 c.13408G>A c.(13408-13410)Gaa>Aaa p.E4470K DNAH9_ENST00000396001.2_Missense_Mutation_p.E782K|RP11-1096G20.5_ENST00000580270.1_RNA|DNAH9_ENST00000454412.2_Missense_Mutation_p.E4394K NM_001372.3 NP_001363.2 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 4470 cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4) 290 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) GAAGACTAAGGAAAACCCATC 0.512000 4 44 0 0 0.009096 0 0 ITGAD 3681 broad.mit.edu 37 16 31425789 31425789 + Missense_Mutation SNP G G A rs139794241 by1000genomes TCGA-H2-A3RI-01A-11D-A21Z-08 TCGA-H2-A3RI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fbcb179-d65d-442d-bfc7-0289d85e1959 2d965468-32aa-4120-a8ca-da4a058ba4ab g.chr16:31425789G>A ENST00000389202.2 + 17 2063 c.2014G>A c.(2014-2016)Gtc>Atc p.V672I NM_005353.2 NP_005344.2 Q13349 ITAD_HUMAN integrin, alpha D 672 cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway integrin complex receptor activity breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 71 CCAAAGCTCTGTCAGGTTTGA 0.443000 6 273 0 0 0.029380 0 0 PIWIL2 55124 broad.mit.edu 37 8 22138985 22138985 + Missense_Mutation SNP G G A TCGA-H2-A3RI-01A-11D-A21Z-08 TCGA-H2-A3RI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fbcb179-d65d-442d-bfc7-0289d85e1959 2d965468-32aa-4120-a8ca-da4a058ba4ab g.chr8:22138985G>A ENST00000356766.6 + 4 530 c.382G>A c.(382-384)Gct>Act p.A128T PIWIL2_ENST00000521356.1_Missense_Mutation_p.A128T|PIWIL2_ENST00000454009.2_Missense_Mutation_p.A128T NM_018068.3 NP_060538.2 Q8TC59 PIWL2_HUMAN piwi-like RNA-mediated gene silencing 2 128 DNA methylation involved in gamete generation|gene silencing by RNA|germ-line stem cell maintenance|multicellular organismal development|oogenesis|piRNA metabolic process|positive regulation of translation|RNA 5'-end processing|spermatogenesis chromatoid body|pi-body piRNA binding NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(14)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(1) 46 Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707) AGTGTTGGCGGCTGGGGACAG 0.488000 4 130 0 0 0.009096 0 0 NOP16 51491 broad.mit.edu 37 5 175815258 175815258 + Missense_Mutation SNP G G A TCGA-H2-A3RI-01A-11D-A21Z-08 TCGA-H2-A3RI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fbcb179-d65d-442d-bfc7-0289d85e1959 2d965468-32aa-4120-a8ca-da4a058ba4ab g.chr5:175815258G>A ENST00000389158.5 - 2 629 c.194C>T c.(193-195)gCg>gTg p.A65V NOP16_ENST00000507413.1_Intron|NOP16_ENST00000509257.1_Missense_Mutation_p.A65V|NOP16_ENST00000510123.1_Missense_Mutation_p.A65V Q9Y3C1 NOP16_HUMAN NOP16 nucleolar protein 65 nucleolus central_nervous_system(1)|endometrium(2)|lung(4)|ovary(1) 8 GAGGGGCACCGCCCTGTTGGG 0.587000 4 114 0 0 0.009096 0 0 FOCAD 54914 broad.mit.edu 37 9 20982426 20982426 + Missense_Mutation SNP G G A TCGA-H2-A3RI-01A-11D-A21Z-08 TCGA-H2-A3RI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fbcb179-d65d-442d-bfc7-0289d85e1959 2d965468-32aa-4120-a8ca-da4a058ba4ab g.chr9:20982426G>A ENST00000380249.1 + 41 5073 c.4709G>A c.(4708-4710)cGg>cAg p.R1570Q FOCAD_ENST00000338382.6_Missense_Mutation_p.R1570Q|FOCAD_ENST00000605086.1_Missense_Mutation_p.R1006Q NM_017794.3 NP_060264.3 Q5VW36 K1797_HUMAN focadhesin 1570 integral to membrane binding GATGCCAATCGGATCGCCCAG 0.353000 3 91 0 0 0.009096 0 0 CCT6P3 0 broad.mit.edu 37 7 64528850 64528850 + RNA SNP T T G rs2949472 by1000genomes TCGA-H2-A3RI-01A-11D-A21Z-08 TCGA-H2-A3RI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fbcb179-d65d-442d-bfc7-0289d85e1959 2d965468-32aa-4120-a8ca-da4a058ba4ab g.chr7:64528850T>G ENST00000426828.1 + 0 638 NR_033416.1 GAATTCTGGCTTTTTTTACAA 0.284000 4 26 0 0 0.021553 0 0 MEGF8 1954 broad.mit.edu 37 19 42848949 42848949 + Silent SNP C C T TCGA-H2-A3RI-01A-11D-A21Z-08 TCGA-H2-A3RI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fbcb179-d65d-442d-bfc7-0289d85e1959 2d965468-32aa-4120-a8ca-da4a058ba4ab g.chr19:42848949C>T ENST00000334370.4 + 12 2696 c.2061C>T c.(2059-2061)acC>acT p.T687T MEGF8_ENST00000251268.6_Silent_p.T687T NM_001410.2 NP_001401.2 Q7Z7M0 MEGF8_HUMAN multiple EGF-like-domains 8 755 integral to membrane calcium ion binding|structural molecule activity breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 50 Prostate(69;0.00682) ACTTGCTCACCTTTCAGCAGC 0.617000 4 110 0 0 0.029380 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-H2-A3RI-01A-11D-A21Z-08 TCGA-H2-A3RI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fbcb179-d65d-442d-bfc7-0289d85e1959 2d965468-32aa-4120-a8ca-da4a058ba4ab g.chr7:140453136A>T ENST00000288602.6 - 15 1859 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333.4 NP_004324.2 P15056 BRAF_HUMAN v-raf murine sarcoma viral oncogene homolog B 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(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(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 43 70 0 0 0.139131 0 0 MT-TL1 0 broad.mit.edu 37 MT 3243 3243 + RNA SNP A A G TCGA-H2-A3RI-01A-11D-A21Z-08 TCGA-H2-A3RI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fbcb179-d65d-442d-bfc7-0289d85e1959 2d965468-32aa-4120-a8ca-da4a058ba4ab g.chrM:3243A>G ENST00000386347.1 + 0 14 taagatggcagagcccggtaa 0.438000 7 0 0 0 0.038147 0 0 AOX1 316 broad.mit.edu 37 2 201485429 201485429 + Silent SNP G G C TCGA-H2-A3RI-01A-11D-A21Z-08 TCGA-H2-A3RI-11A-11D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fbcb179-d65d-442d-bfc7-0289d85e1959 669777a5-ce55-4e1d-9b1a-d648e9b62c43 g.chr2:201485429G>C ENST00000374700.2 + 17 2002 c.1761G>C c.(1759-1761)ctG>ctC p.L587L AOX1_ENST00000485106.1_Intron NM_001159.3 NP_001150.3 Q06278 ADO_HUMAN aldehyde oxidase 1 587 inflammatory response|reactive oxygen species metabolic process cytoplasm 2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 81 Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909) TCATGCATCTGTCTGGTGTGA 0.443000 4 97 0 0 0.009096 0 0 LILRB5 0 broad.mit.edu 37 19 54754843 54754843 + Missense_Mutation SNP A A G TCGA-H2-A3RI-01A-11D-A21Z-08 TCGA-H2-A3RI-11A-11D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fbcb179-d65d-442d-bfc7-0289d85e1959 669777a5-ce55-4e1d-9b1a-d648e9b62c43 g.chr19:54754843A>G ENST00000450632.1 - 13 1869 c.1792T>C c.(1792-1794)Tcc>Ccc p.S598P LILRB5_ENST00000345866.6_Intron|LILRB5_ENST00000449561.2_Intron|LILRB5_ENST00000316219.5_Intron O75023 LIRB5_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5 423 cell surface receptor linked signaling pathway|defense response integral to membrane transmembrane receptor activity NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) GGGGGTGGGGAGGCCTGGGGG 0.607000 3 44 0 0 0.115264 0 0 UNC5B 219699 broad.mit.edu 37 10 73055692 73055692 + Missense_Mutation SNP G G A TCGA-H2-A3RI-01A-11D-A21Z-08 TCGA-H2-A3RI-11A-11D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fbcb179-d65d-442d-bfc7-0289d85e1959 669777a5-ce55-4e1d-9b1a-d648e9b62c43 g.chr10:73055692G>A ENST00000335350.6 + 14 2716 c.2300G>A c.(2299-2301)aGg>aAg p.R767K UNC5B_ENST00000373192.4_Missense_Mutation_p.R756K NM_170744.4 NP_734465.2 Q8IZJ1 UNC5B_HUMAN unc-5 homolog B (C. elegans) 767 apoptosis|axon guidance|regulation of apoptosis integral to membrane breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4) 49 GCCCATTGGAGGAGCAAGCTG 0.632000 3 111 0 0 0.115264 0 0 DNAH9 1770 broad.mit.edu 37 17 11872791 11872791 + Missense_Mutation SNP G G A TCGA-H2-A3RI-01A-11D-A21Z-08 TCGA-H2-A3RI-11A-11D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fbcb179-d65d-442d-bfc7-0289d85e1959 669777a5-ce55-4e1d-9b1a-d648e9b62c43 g.chr17:11872791G>A ENST00000262442.3 + 69 13476 c.13408G>A c.(13408-13410)Gaa>Aaa p.E4470K DNAH9_ENST00000396001.2_Missense_Mutation_p.E782K|DNAH9_ENST00000454412.2_Missense_Mutation_p.E4394K|RP11-1096G20.5_ENST00000580270.1_RNA NM_001372.3 NP_001363.2 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 4470 cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4) 290 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) GAAGACTAAGGAAAACCCATC 0.512000 4 44 0 0 0.009096 0 0 LILRB5 0 broad.mit.edu 37 19 54754820 54754820 + Missense_Mutation SNP T T G rs429425 by1000genomes TCGA-H2-A3RI-01A-11D-A21Z-08 TCGA-H2-A3RI-11A-11D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fbcb179-d65d-442d-bfc7-0289d85e1959 669777a5-ce55-4e1d-9b1a-d648e9b62c43 g.chr19:54754820T>G ENST00000450632.1 - 13 1892 c.1815A>C c.(1813-1815)ttA>ttC p.L605F LILRB5_ENST00000345866.6_Intron|LILRB5_ENST00000449561.2_Intron|LILRB5_ENST00000316219.5_Intron O75023 LIRB5_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5 440 cell surface receptor linked signaling pathway|defense response integral to membrane transmembrane receptor activity NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) GAGTGAGAGGTAAGGAACGTG 0.607000 3 59 0 0 0.009096 0 0 ITGAD 3681 broad.mit.edu 37 16 31425789 31425789 + Missense_Mutation SNP G G A rs139794241 by1000genomes TCGA-H2-A3RI-01A-11D-A21Z-08 TCGA-H2-A3RI-11A-11D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fbcb179-d65d-442d-bfc7-0289d85e1959 669777a5-ce55-4e1d-9b1a-d648e9b62c43 g.chr16:31425789G>A ENST00000389202.2 + 17 2063 c.2014G>A c.(2014-2016)Gtc>Atc p.V672I NM_005353.2 NP_005344.2 Q13349 ITAD_HUMAN integrin, alpha D 672 cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway integrin complex receptor activity breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 71 CCAAAGCTCTGTCAGGTTTGA 0.443000 6 273 0 0 0.029380 0 0 PIWIL2 55124 broad.mit.edu 37 8 22138985 22138985 + Missense_Mutation SNP G G A TCGA-H2-A3RI-01A-11D-A21Z-08 TCGA-H2-A3RI-11A-11D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fbcb179-d65d-442d-bfc7-0289d85e1959 669777a5-ce55-4e1d-9b1a-d648e9b62c43 g.chr8:22138985G>A ENST00000356766.6 + 4 530 c.382G>A c.(382-384)Gct>Act p.A128T PIWIL2_ENST00000521356.1_Missense_Mutation_p.A128T|PIWIL2_ENST00000454009.2_Missense_Mutation_p.A128T NM_018068.3 NP_060538.2 Q8TC59 PIWL2_HUMAN piwi-like RNA-mediated gene silencing 2 128 DNA methylation involved in gamete generation|gene silencing by RNA|germ-line stem cell maintenance|multicellular organismal development|oogenesis|piRNA metabolic process|positive regulation of translation|RNA 5'-end processing|spermatogenesis chromatoid body|pi-body piRNA binding NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(14)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(1) 46 Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707) AGTGTTGGCGGCTGGGGACAG 0.488000 4 130 0 0 0.009096 0 0 USP41 373856 broad.mit.edu 37 22 20723832 20723832 + Missense_Mutation SNP T T C rs75178771 by1000genomes TCGA-H2-A3RI-01A-11D-A21Z-08 TCGA-H2-A3RI-11A-11D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fbcb179-d65d-442d-bfc7-0289d85e1959 669777a5-ce55-4e1d-9b1a-d648e9b62c43 g.chr22:20723832T>C ENST00000454608.2 - 8 513 c.514A>G c.(514-516)Atg>Gtg p.M172V USP41_ENST00000486536.2_5'UTR ubiquitin specific peptidase 41 endometrium(1)|kidney(1)|lung(2)|skin(1) 5 GAGTCCTTCATCCGGATCATA 0.532000 3 73 0 0 0.038147 0 0 NOP16 51491 broad.mit.edu 37 5 175815258 175815258 + Missense_Mutation SNP G G A TCGA-H2-A3RI-01A-11D-A21Z-08 TCGA-H2-A3RI-11A-11D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fbcb179-d65d-442d-bfc7-0289d85e1959 669777a5-ce55-4e1d-9b1a-d648e9b62c43 g.chr5:175815258G>A ENST00000389158.5 - 2 629 c.194C>T c.(193-195)gCg>gTg p.A65V NOP16_ENST00000507413.1_Intron|NOP16_ENST00000510123.1_Missense_Mutation_p.A65V|NOP16_ENST00000509257.1_Missense_Mutation_p.A65V Q9Y3C1 NOP16_HUMAN NOP16 nucleolar protein 65 nucleolus central_nervous_system(1)|endometrium(2)|lung(4)|ovary(1) 8 GAGGGGCACCGCCCTGTTGGG 0.587000 4 114 0 0 0.009096 0 0 FOCAD 54914 broad.mit.edu 37 9 20982426 20982426 + Missense_Mutation SNP G G A TCGA-H2-A3RI-01A-11D-A21Z-08 TCGA-H2-A3RI-11A-11D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fbcb179-d65d-442d-bfc7-0289d85e1959 669777a5-ce55-4e1d-9b1a-d648e9b62c43 g.chr9:20982426G>A ENST00000380249.1 + 41 5073 c.4709G>A c.(4708-4710)cGg>cAg p.R1570Q FOCAD_ENST00000605086.1_Missense_Mutation_p.R1006Q|FOCAD_ENST00000338382.6_Missense_Mutation_p.R1570Q NM_017794.3 NP_060264.3 Q5VW36 K1797_HUMAN focadhesin 1570 integral to membrane binding GATGCCAATCGGATCGCCCAG 0.353000 3 91 0 0 0.009096 0 0 CCT6P3 0 broad.mit.edu 37 7 64528850 64528850 + RNA SNP T T G rs2949472 by1000genomes TCGA-H2-A3RI-01A-11D-A21Z-08 TCGA-H2-A3RI-11A-11D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fbcb179-d65d-442d-bfc7-0289d85e1959 669777a5-ce55-4e1d-9b1a-d648e9b62c43 g.chr7:64528850T>G ENST00000426828.1 + 0 638 NR_033416.1 GAATTCTGGCTTTTTTTACAA 0.284000 4 26 0 0 0.021553 0 0 MEGF8 1954 broad.mit.edu 37 19 42848949 42848949 + Silent SNP C C T TCGA-H2-A3RI-01A-11D-A21Z-08 TCGA-H2-A3RI-11A-11D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fbcb179-d65d-442d-bfc7-0289d85e1959 669777a5-ce55-4e1d-9b1a-d648e9b62c43 g.chr19:42848949C>T ENST00000334370.4 + 12 2696 c.2061C>T c.(2059-2061)acC>acT p.T687T MEGF8_ENST00000251268.6_Silent_p.T687T NM_001410.2 NP_001401.2 Q7Z7M0 MEGF8_HUMAN multiple EGF-like-domains 8 755 integral to membrane calcium ion binding|structural molecule activity breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 50 Prostate(69;0.00682) ACTTGCTCACCTTTCAGCAGC 0.617000 4 110 0 0 0.029380 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-H2-A3RI-01A-11D-A21Z-08 TCGA-H2-A3RI-11A-11D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fbcb179-d65d-442d-bfc7-0289d85e1959 669777a5-ce55-4e1d-9b1a-d648e9b62c43 g.chr7:140453136A>T ENST00000288602.6 - 15 1859 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333.4 NP_004324.2 P15056 BRAF_HUMAN v-raf murine sarcoma viral oncogene homolog B 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(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(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 43 70 0 0 0.139131 0 0 RP11-435B5.5 0 broad.mit.edu 37 1 143391935 143391936 + RNA INS - - TG TCGA-H2-A3RI-01A-11D-A21Z-08 TCGA-H2-A3RI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fbcb179-d65d-442d-bfc7-0289d85e1959 2d965468-32aa-4120-a8ca-da4a058ba4ab g.chr1:143391935_143391936insTG ENST00000428624.1 + 0 2065 RP11-435B5.4_ENST00000423249.1_lincRNA ATATATATATATAAAGAGATTG 0.252 2 4 --- --- --- --- PVRL1 5818 broad.mit.edu 37 11 119535678 119535680 + In_Frame_Del DEL CCT CCT - TCGA-H2-A3RI-01A-11D-A21Z-08 TCGA-H2-A3RI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fbcb179-d65d-442d-bfc7-0289d85e1959 2d965468-32aa-4120-a8ca-da4a058ba4ab g.chr11:119535678_119535680delCCT ENST00000264025.3 - 6 1861_1863 c.1331_1333delAGG c.(1330-1335)ggc>g p.EG444del PVRL1_ENST00000341398.2_Intron NM_002855.4 NP_002846.3 Q15223 PVRL1_HUMAN poliovirus receptor-related 1 (herpesvirus entry mediator C) 444 Poly-Glu. adherens junction organization|cell junction assembly|entry of virus into host cell|heterophilic cell-cell adhesion|homophilic cell adhesion|immune response cell-cell adherens junction|extracellular region|integral to membrane cell adhesion molecule binding|coreceptor activity|protein homodimerization activity p.E444fs*>73(1) breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.29e-05) CCTCCACCGCcctcctcctcctc 0.660 9 35 --- --- --- --- LA16c-306E5.3 0 broad.mit.edu 37 16 3546140 3546141 + RNA INS - - A rs74546027 TCGA-H2-A3RI-01A-11D-A21Z-08 TCGA-H2-A3RI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fbcb179-d65d-442d-bfc7-0289d85e1959 2d965468-32aa-4120-a8ca-da4a058ba4ab g.chr16:3546140_3546141insA ENST00000574423.2 + 0 111 gactccgtctcaaaaaaaaaaa 0.559 3 3 --- --- --- --- ZNF43 7594 broad.mit.edu 37 19 22002025 22002026 + Splice_Site INS - - A TCGA-H2-A3RI-01A-11D-A21Z-08 TCGA-H2-A3RI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fbcb179-d65d-442d-bfc7-0289d85e1959 2d965468-32aa-4120-a8ca-da4a058ba4ab g.chr19:22002025_22002026insA ENST00000594012.1 - 5 500 c.e5-2 ZNF43_ENST00000595461.1_Splice_Site|ZNF43_ENST00000598288.1_Splice_Site|ZNF43_ENST00000598381.1_Splice_Site|ZNF43_ENST00000354959.4_Splice_Site NM_001256649.1|NM_001256651.1|NM_001256653.1|NM_001256654.1 NP_001243578.1|NP_001243580.1|NP_001243582.1|NP_001243583.1 P17038 ZNF43_HUMAN zinc finger protein 43 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.?(1) autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2) 51 Renal(1328;0.000219)|Hepatocellular(1079;0.121) GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127) CAATGGTCCCTAAAAAAAACAA 0.386 9 157 --- --- --- --- TGFB1 7040 broad.mit.edu 37 19 41858919 41858921 + In_Frame_Del DEL GCG GCG - rs1800470 byFrequency TCGA-H2-A3RI-01A-11D-A21Z-08 TCGA-H2-A3RI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fbcb179-d65d-442d-bfc7-0289d85e1959 2d965468-32aa-4120-a8ca-da4a058ba4ab g.chr19:41858919_41858921delGCG ENST00000221930.5 - 1 895_897 c.29_31delCGC c.(28-33)ctg>c p.PL10del TMEM91_ENST00000539627.1_Intron NM_000660.4 NP_000651.3 P01137 TGFB1_HUMAN transforming growth factor, beta 1 10 L -> P (associated with higher bone mineral density and lower frequency of vertebral fractures in Japanese post- menopausal women; dbSNP:rs1800470). active induction of host immune response by virus|ATP biosynthetic process|cell cycle arrest|cell growth|cell-cell junction organization|chondrocyte differentiation|connective tissue replacement involved in inflammatory response wound healing|epidermal growth factor receptor signaling pathway|evasion of host defenses by virus|hemopoietic progenitor cell differentiation|induction of apoptosis|lymph node development|mitotic cell cycle G1/S transition checkpoint|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of cell-cell adhesion|negative regulation of DNA replication|negative regulation of epithelial cell proliferation|negative regulation of fat cell differentiation|negative regulation of macrophage cytokine production|negative regulation of mitotic cell cycle|negative regulation of protein phosphorylation|ossification involved in bone remodeling|pathway-restricted SMAD protein phosphorylation|platelet activation|platelet degranulation|positive regulation of blood vessel endothelial cell migration|positive regulation of bone mineralization|positive regulation of cell division|positive regulation of chemotaxis|positive regulation of collagen biosynthetic process|positive regulation of epithelial to mesenchymal transition|positive regulation of fibroblast migration|positive regulation of interleukin-17 production|positive regulation of isotype switching to IgA isotypes|positive regulation of MAP kinase activity|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of protein dephosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein secretion|positive regulation of SMAD protein import into nucleus|protein export from nucleus|protein import into nucleus, translocation|receptor catabolic process|regulation of DNA binding|regulation of striated muscle tissue development|regulation of transforming growth factor beta receptor signaling pathway|response to cholesterol|response to estradiol stimulus|response to progesterone stimulus|salivary gland morphogenesis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway|viral infectious cycle extracellular space|Golgi lumen|nucleus|platelet alpha granule lumen|proteinaceous extracellular matrix growth factor activity|type II transforming growth factor beta receptor binding endometrium(1)|large_intestine(2)|lung(4)|skin(1) 8 Hyaluronidase(DB00070) ggtagcagcagcggcagcagccg 0.724 2 4 --- --- --- --- SHANK3 85358 broad.mit.edu 37 22 51159933 51159933 + Frame_Shift_Del DEL G G - TCGA-H2-A3RI-01A-11D-A21Z-08 TCGA-H2-A3RI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fbcb179-d65d-442d-bfc7-0289d85e1959 2d965468-32aa-4120-a8ca-da4a058ba4ab g.chr22:51159933delG ENST00000414786.2 + 21 3857 c.3630delG c.(3628-3630)ctfs p.L1210fs SHANK3_ENST00000445220.2_Frame_Shift_Del_p.L1226fs|SHANK3_ENST00000262795.3_Frame_Shift_Del_p.L1240fs F2Z3L0 F2Z3L0_HUMAN SH3 and multiple ankyrin repeat domains 3 1240 central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5) 8 all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178) BRCA - Breast invasive adenocarcinoma(115;0.22) CCAGCAGGCTGGGGGGGGCCG 0.721 2 4 --- --- --- --- ANKRD36BP2 0 broad.mit.edu 37 2 89083945 89083946 + RNA INS - - GC TCGA-H2-A3RI-01A-11D-A21Z-08 TCGA-H2-A3RI-11A-11D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fbcb179-d65d-442d-bfc7-0289d85e1959 669777a5-ce55-4e1d-9b1a-d648e9b62c43 g.chr2:89083945_89083946insGC ENST00000393525.3 + 0 576 GTATTCCTTTTTTTTCAGTGTA 0.347 7 2 --- --- --- --- BTN2A2 10385 broad.mit.edu 37 6 26384091 26384093 + In_Frame_Del DEL CCT CCT - TCGA-H2-A3RI-01A-11D-A21Z-08 TCGA-H2-A3RI-11A-11D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fbcb179-d65d-442d-bfc7-0289d85e1959 669777a5-ce55-4e1d-9b1a-d648e9b62c43 g.chr6:26384091_26384093delCCT ENST00000356709.4 + 2 153_155 c.42_44delCCT c.(40-45)tcc>tc p.SL14del BTN2A2_ENST00000469230.1_In_Frame_Del_p.SL14del|BTN2A2_ENST00000416795.2_In_Frame_Del_p.SL14del|BTN2A2_ENST00000432533.2_In_Frame_Del_p.SL14del|BTN2A2_ENST00000352867.2_In_Frame_Del_p.SL14del|BTN2A2_ENST00000482536.1_In_Frame_Del_p.SL14del NM_001197240.1|NM_006995.4 NP_001184169.1|NP_008926.2 Q8WVV5 BT2A2_HUMAN butyrophilin, subfamily 2, member A2 14 negative regulation of activated T cell proliferation|negative regulation of cellular metabolic process|negative regulation of cytokine secretion integral to membrane breast(2)|endometrium(3)|large_intestine(5)|lung(13) 23 TGCCAGCCTCcctcctcctcctc 0.581 9 145 --- --- --- --- SHANK3 85358 broad.mit.edu 37 22 51159933 51159933 + Frame_Shift_Del DEL G G - TCGA-H2-A3RI-01A-11D-A21Z-08 TCGA-H2-A3RI-11A-11D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fbcb179-d65d-442d-bfc7-0289d85e1959 669777a5-ce55-4e1d-9b1a-d648e9b62c43 g.chr22:51159933delG ENST00000414786.2 + 21 3857 c.3630delG c.(3628-3630)ctfs p.L1210fs SHANK3_ENST00000445220.2_Frame_Shift_Del_p.L1226fs|SHANK3_ENST00000262795.3_Frame_Shift_Del_p.L1240fs F2Z3L0 F2Z3L0_HUMAN SH3 and multiple ankyrin repeat domains 3 1240 central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5) 8 all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178) BRCA - Breast invasive adenocarcinoma(115;0.22) CCAGCAGGCTGGGGGGGGCCG 0.721 2 4 --- --- --- ---