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 HLA-DQB2 3120 broad.mit.edu 37 6 32725567 32725567 + Missense_Mutation SNP C C T rs114234640 byFrequency TCGA-FY-A40M-01A-11D-A23M-08 TCGA-FY-A40M-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx f013bd51-dfbc-4f81-88ce-2d2d1188a116 738918d8-2f03-4344-a87a-21a0e1cdca57 g.chr6:32725567C>T ENST00000435145.2 - 4 801 c.740G>A c.(739-741)cGt>cAt p.R247H HLA-DQB2_ENST00000411527.1_Intron|HLA-DQB2_ENST00000437316.2_Missense_Mutation_p.R247H Q5SR06 Q5SR06_HUMAN major histocompatibility complex, class II, DQ beta 2 216 antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|immune response integral to membrane|MHC class II protein complex endometrium(1)|kidney(1)|lung(1)|prostate(2) 5 ACCCCTGTGACGGATGATAAG 0.552000 4 18 0 0 1 0 0 DVL3 1857 broad.mit.edu 37 3 183884441 183884441 + Missense_Mutation SNP G G A TCGA-FY-A40M-01A-11D-A23M-08 TCGA-FY-A40M-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx f013bd51-dfbc-4f81-88ce-2d2d1188a116 738918d8-2f03-4344-a87a-21a0e1cdca57 g.chr3:183884441G>A ENST00000313143.3 + 10 1276 c.1028G>A c.(1027-1029)gGt>gAt p.G343D DVL3_ENST00000431765.1_Missense_Mutation_p.G343D|EIF2B5_ENST00000444495.1_Intron NM_004423.3 NP_004414.3 Q92997 DVL3_HUMAN dishevelled segment polarity protein 3 343 canonical Wnt receptor signaling pathway|intracellular signal transduction|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent cytoplasm beta-catenin binding|frizzled binding|protease binding|protein heterodimerization activity|signal transducer activity breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(6)|liver(1)|lung(13)|ovary(1)|prostate(1) 35 all_cancers(143;1.12e-10)|Ovarian(172;0.0339) Epithelial(37;2.08e-34)|OV - Ovarian serous cystadenocarcinoma(80;1.31e-22) AGTCCACGTGGTTGCTTCACA 0.527000 11 12 0 0 1 0 0 KIT 3815 broad.mit.edu 37 4 55604659 55604659 + Missense_Mutation SNP G G A rs139694927 TCGA-FY-A40M-01A-11D-A23M-08 TCGA-FY-A40M-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx f013bd51-dfbc-4f81-88ce-2d2d1188a116 738918d8-2f03-4344-a87a-21a0e1cdca57 g.chr4:55604659G>A ENST00000288135.5 + 21 2964 c.2867G>A c.(2866-2868)cGg>cAg p.R956Q NM_000222.2|NM_001093772.1 NP_000213.1|NP_001087241.1 P10721 KIT_HUMAN v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog 956 male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway extracellular space|integral to membrane ATP binding|protein binding|receptor signaling protein tyrosine kinase activity p.R956Q(1)|p.R956L(1) NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1) 6411 all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101) LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209) Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171) Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268) CATTCTGTGCGGATCAATTCT 0.532000 1 """Mis, O""" """GIST, AML, TGCT, mastocytosis, mucosal melanoma""" """GIST, epithelioma""" Piebald trait Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors 8 94 0 0 1 0 0 HMCN1 83872 broad.mit.edu 37 1 186136027 186136027 + Missense_Mutation SNP G G A rs150494959 byFrequency TCGA-FY-A40M-01A-11D-A23M-08 TCGA-FY-A40M-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx f013bd51-dfbc-4f81-88ce-2d2d1188a116 738918d8-2f03-4344-a87a-21a0e1cdca57 g.chr1:186136027G>A ENST00000271588.4 + 100 15756 c.15527G>A c.(15526-15528)cGt>cAt p.R5176H HMCN1_ENST00000367492.2_Missense_Mutation_p.R5176H NM_031935.2 NP_114141.2 Q96RW7 HMCN1_HUMAN hemicentin 1 5176 EGF-like 2; calcium-binding (Potential). response to stimulus|visual perception basement membrane calcium ion binding p.R5176H(1) NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18) 308 TGTGTGGTCCGTTGTGGAAGT 0.463000 26 24 0 0 1 0 0 USH1C 10083 broad.mit.edu 37 11 17542472 17542472 + Silent SNP G G A TCGA-FY-A40M-01A-11D-A23M-08 TCGA-FY-A40M-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx f013bd51-dfbc-4f81-88ce-2d2d1188a116 738918d8-2f03-4344-a87a-21a0e1cdca57 g.chr11:17542472G>A ENST00000005226.7 - 14 1154 c.1155C>T c.(1153-1155)ctC>ctT p.L385L USH1C_ENST00000527720.1_Silent_p.L354L|USH1C_ENST00000527020.1_Silent_p.L366L|USH1C_ENST00000318024.4_Silent_p.L385L NM_153676.3 NP_710142.1 Q9Y6N9 USH1C_HUMAN Usher syndrome 1C (autosomal recessive, severe) 385 equilibrioception|G2/M transition of mitotic cell cycle|photoreceptor cell maintenance|sensory perception of sound apical part of cell|cytoplasm|stereocilium protein binding central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1) 48 TTTTAGGCAAGAGTAGCTGTT 0.488000 200 268 0 0 1 0 0 SLC22A23 63027 broad.mit.edu 37 6 3285329 3285329 + Silent SNP G G A TCGA-FY-A40M-01A-11D-A23M-08 TCGA-FY-A40M-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx f013bd51-dfbc-4f81-88ce-2d2d1188a116 738918d8-2f03-4344-a87a-21a0e1cdca57 g.chr6:3285329G>A ENST00000436008.2 - 8 2025 c.1563C>T c.(1561-1563)agC>agT p.S521S SLC22A23_ENST00000380302.4_Silent_p.S240S|SLC22A23_ENST00000490273.1_Silent_p.S240S|SLC22A23_ENST00000406686.3_Silent_p.S521S|PSMG4_ENST00000451246.2_Intron A1A5C7 S22AN_HUMAN solute carrier family 22, member 23 521 ion transport integral to membrane transmembrane transporter activity endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1) 14 Ovarian(93;0.0493) all_hematologic(90;0.0905) CTGGGTGCTGGCTGTACTTTC 0.537000 9 11 0 0 1 0 0 MET 0 broad.mit.edu 37 7 116339286 116339286 + Missense_Mutation SNP A A G TCGA-FY-A40M-01A-11D-A23M-08 TCGA-FY-A40M-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx f013bd51-dfbc-4f81-88ce-2d2d1188a116 738918d8-2f03-4344-a87a-21a0e1cdca57 g.chr7:116339286A>G ENST00000397752.3 + 2 348 c.148A>G c.(148-150)Aca>Gca p.T50A MET_ENST00000436117.2_Missense_Mutation_p.T50A|MET_ENST00000318493.6_Missense_Mutation_p.T50A NM_000245.2|NM_001127500.1 NP_000236.2|NP_001120972.1 P08581 MET_HUMAN met proto-oncogene 50 Sema. axon guidance|cell proliferation basal plasma membrane|integral to plasma membrane ATP binding|hepatocyte growth factor receptor activity|protein binding NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3) 233 all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125) Ovarian(593;0.133) GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512) CACCGCGGAAACACCCATCCA 0.438000 Mis """papillary renal, head-neck squamous cell """ papillary renal Hereditary Papillary Renal Carcinoma (type 1) 3 59 0 0 1 0 0 HINT1 3094 broad.mit.edu 37 5 130495259 130495259 + Missense_Mutation SNP G G C TCGA-FY-A40M-01A-11D-A23M-08 TCGA-FY-A40M-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx f013bd51-dfbc-4f81-88ce-2d2d1188a116 738918d8-2f03-4344-a87a-21a0e1cdca57 g.chr5:130495259G>C ENST00000304043.5 - 3 541 c.262C>G c.(262-264)Ctg>Gtg p.L88V HINT1_ENST00000506207.1_5'UTR NM_005340.6 NP_005331.1 P49773 HINT1_HUMAN histidine triad nucleotide binding protein 1 88 HIT. signal transduction cytoplasm|cytoskeleton|nucleus hydrolase activity|protein kinase C binding endometrium(1)|large_intestine(1)|lung(3) 5 all_cancers(142;0.0452)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) Adenosine monophosphate(DB00131) TTCAGGCCCAGATCAGCAGCA 0.423000 29 47 0 0 1 0 0 NUP155 9631 broad.mit.edu 37 5 37352892 37352892 + Missense_Mutation SNP G G A TCGA-FY-A40M-01A-11D-A23M-08 TCGA-FY-A40M-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx f013bd51-dfbc-4f81-88ce-2d2d1188a116 738918d8-2f03-4344-a87a-21a0e1cdca57 g.chr5:37352892G>A ENST00000231498.3 - 5 706 c.503C>T c.(502-504)gCg>gTg p.A168V NUP155_ENST00000381843.2_Missense_Mutation_p.A109V|NUP155_ENST00000513532.1_Missense_Mutation_p.A168V NM_153485.1 NP_705618.1 O75694 NU155_HUMAN nucleoporin 155kDa 168 carbohydrate metabolic process|glucose transport|mRNA transport|nucleocytoplasmic transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction nuclear membrane|nuclear pore protein binding|structural constituent of nuclear pore|transporter activity endometrium(1)|kidney(16)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 62 all_lung(31;0.000137) COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) TACAGGGGTCGCCAAAACCAG 0.403000 3 43 0 0 1 0 0 HYDIN 54768 broad.mit.edu 37 16 71218819 71218819 + Silent SNP G G A TCGA-FY-A40M-01A-11D-A23M-08 TCGA-FY-A40M-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx f013bd51-dfbc-4f81-88ce-2d2d1188a116 738918d8-2f03-4344-a87a-21a0e1cdca57 g.chr16:71218819G>A ENST00000393567.2 - 3 360 c.210C>T c.(208-210)tgC>tgT p.C70C HYDIN_ENST00000541601.1_Silent_p.C87C|HYDIN_ENST00000393550.2_Silent_p.C70C|HYDIN_ENST00000321489.5_Silent_p.C70C|HYDIN_ENST00000448691.1_Silent_p.C70C|HYDIN_ENST00000288168.10_Silent_p.C87C|HYDIN_ENST00000538248.1_Silent_p.C97C|HYDIN_ENST00000448089.2_Silent_p.C70C NM_001270974.1 NP_001257903.1 Q4G0P3 HYDIN_HUMAN HYDIN, axonemal central pair apparatus protein 70 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 43 Ovarian(137;0.0654) TCTGTGGTCGGCACATCAAAC 0.458000 4 90 0 0 1 0 0 SMARCA4 6597 broad.mit.edu 37 19 11094890 11094890 + Silent SNP C C T TCGA-FY-A40M-01A-11D-A23M-08 TCGA-FY-A40M-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx f013bd51-dfbc-4f81-88ce-2d2d1188a116 738918d8-2f03-4344-a87a-21a0e1cdca57 g.chr19:11094890C>T ENST00000358026.2 + 2 347 c.63C>T c.(61-63)ggC>ggT p.G21G SMARCA4_ENST00000413806.3_Silent_p.G21G|SMARCA4_ENST00000450717.3_Silent_p.G21G|SMARCA4_ENST00000590574.1_Silent_p.G21G|SMARCA4_ENST00000589677.1_Silent_p.G21G|SMARCA4_ENST00000344626.4_Silent_p.G21G|SMARCA4_ENST00000541122.2_Silent_p.G21G|SMARCA4_ENST00000444061.3_Silent_p.G21G|SMARCA4_ENST00000429416.3_Silent_p.G21G NM_001128849.1 NP_001122321.1 P51532 SMCA4_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 21 Necessary for interaction with SS18L1/CREST (By similarity). chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity p.?(1) adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 163 all_lung(6;0.0512)|Lung NSC(9;0.0568) CGGGCCCTGGCCCTTCCCCTG 0.716000 """F, N, Mis""" NSCLC 12 32 0 0 1 0 0 GALNTL5 168391 broad.mit.edu 37 7 151711750 151711750 + Missense_Mutation SNP C C A TCGA-FY-A40M-01A-11D-A23M-08 TCGA-FY-A40M-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx f013bd51-dfbc-4f81-88ce-2d2d1188a116 738918d8-2f03-4344-a87a-21a0e1cdca57 g.chr7:151711750C>A ENST00000392800.2 + 8 1302 c.1048C>A c.(1048-1050)Ctc>Atc p.L350I GALNTL5_ENST00000431418.2_Missense_Mutation_p.L350I NM_145292.3 NP_660335.2 Q7Z4T8 GLTL5_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 5 350 Catalytic subdomain B. Golgi membrane|integral to membrane transferase activity, transferring glycosyl groups NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(11)|ovary(2)|prostate(2)|skin(3) 32 all_neural(206;0.187) all_hematologic(28;0.0749) OV - Ovarian serous cystadenocarcinoma(82;0.00427) UCEC - Uterine corpus endometrioid carcinoma (81;0.18)|BRCA - Breast invasive adenocarcinoma(188;0.166) TGGAGGCCAACTCTTTATAAT 0.383000 39 33 2.24893e-16 2.24893e-16 1 1 0 MLLT3 4300 broad.mit.edu 37 9 20414313 20414313 + Silent SNP G G A TCGA-FY-A40M-01A-11D-A23M-08 TCGA-FY-A40M-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx f013bd51-dfbc-4f81-88ce-2d2d1188a116 738918d8-2f03-4344-a87a-21a0e1cdca57 g.chr9:20414313G>A ENST00000380338.4 - 5 817 c.531C>T c.(529-531)agC>agT p.S177S MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S174S|MLLT3_ENST00000475957.1_5'UTR NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 177 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7) 66 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) tgctgctactgctgctgctgc 0.527000 T MLL ALL 4 62 0 0 1 0 0 LTBP1 4052 broad.mit.edu 37 2 33585808 33585808 + Missense_Mutation SNP A A T TCGA-FY-A40M-01A-11D-A23M-08 TCGA-FY-A40M-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx f013bd51-dfbc-4f81-88ce-2d2d1188a116 738918d8-2f03-4344-a87a-21a0e1cdca57 g.chr2:33585808A>T ENST00000404816.2 + 27 4498 c.4145A>T c.(4144-4146)gAt>gTt p.D1382V LTBP1_ENST00000272273.5_Missense_Mutation_p.D280V|LTBP1_ENST00000390003.4_Missense_Mutation_p.D1057V|LTBP1_ENST00000418533.2_Missense_Mutation_p.D1014V|LTBP1_ENST00000354476.3_Missense_Mutation_p.D1383V|LTBP1_ENST00000402934.1_Missense_Mutation_p.D1001V|LTBP1_ENST00000404525.1_Missense_Mutation_p.D1003V|LTBP1_ENST00000407925.1_Missense_Mutation_p.D1056V Q14766 LTBP1_HUMAN latent transforming growth factor beta binding protein 1 1382 TB 3. negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta proteinaceous extracellular matrix calcium ion binding|growth factor binding|transforming growth factor beta receptor activity breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3) 108 all_hematologic(175;0.115) Medulloblastoma(90;0.215) GGATGGGGAGATAACTGCGAA 0.502000 31 39 0 0 1 0 0 ABCA12 26154 broad.mit.edu 37 2 215845310 215845310 + Missense_Mutation SNP C C T TCGA-FY-A40M-01A-11D-A23M-08 TCGA-FY-A40M-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx f013bd51-dfbc-4f81-88ce-2d2d1188a116 738918d8-2f03-4344-a87a-21a0e1cdca57 g.chr2:215845310C>T ENST00000272895.7 - 31 4856 c.4637G>A c.(4636-4638)cGc>cAc p.R1546H ABCA12_ENST00000389661.4_Missense_Mutation_p.R1228H NM_173076.2 NP_775099.2 Q86UK0 ABCAC_HUMAN ATP-binding cassette, sub-family A (ABC1), member 12 1546 ABC transporter 1. R -> C (in dbSNP:rs13401480). cellular homeostasis|lipid transport integral to membrane ATP binding|ATPase activity p.R1546H(1) NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 139 Renal(323;0.127) Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011) GAAGGCGATGCGGTCACTCAG 0.512000 4 60 0 0 1 0 0 SLITRK4 139065 broad.mit.edu 37 X 142717102 142717102 + Missense_Mutation SNP C C T TCGA-FY-A40M-01A-11D-A23M-08 TCGA-FY-A40M-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx f013bd51-dfbc-4f81-88ce-2d2d1188a116 738918d8-2f03-4344-a87a-21a0e1cdca57 g.chrX:142717102C>T ENST00000381779.4 - 2 2048 c.1823G>A c.(1822-1824)cGa>cAa p.R608Q SLITRK4_ENST00000338017.4_Missense_Mutation_p.R608Q|SLITRK4_ENST00000356928.1_Missense_Mutation_p.R608Q NM_001184749.1|NM_001184750.1|NM_173078.3 NP_001171678.1|NP_001171679.1|NP_775101.1 Q8IW52 SLIK4_HUMAN SLIT and NTRK-like family, member 4 608 integral to membrane autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2) 60 Acute lymphoblastic leukemia(192;6.56e-05) AGGAGGACTTCGAATGGGACC 0.418000 12 118 0 0 1 0 0 ANKH 56172 broad.mit.edu 37 5 14769190 14769190 + Silent SNP G G A TCGA-FY-A40M-01A-11D-A23M-08 TCGA-FY-A40M-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx f013bd51-dfbc-4f81-88ce-2d2d1188a116 738918d8-2f03-4344-a87a-21a0e1cdca57 g.chr5:14769190G>A ENST00000284268.6 - 2 537 c.207C>T c.(205-207)ttC>ttT p.F69F NM_054027.4 NP_473368.1 Q9HCJ1 ANKH_HUMAN ANKH inorganic pyrophosphate transport regulator 69 locomotory behavior|regulation of bone mineralization|skeletal system development integral to plasma membrane|outer membrane inorganic diphosphate transmembrane transporter activity|inorganic phosphate transmembrane transporter activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 29 CCACATTTTTGAAGTCACTCA 0.567000 22 16 0 0 1 0 0 PRG4 10216 broad.mit.edu 37 1 186275982 186275982 + Silent SNP C C T TCGA-FY-A40M-01A-11D-A23M-08 TCGA-FY-A40M-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx f013bd51-dfbc-4f81-88ce-2d2d1188a116 738918d8-2f03-4344-a87a-21a0e1cdca57 g.chr1:186275982C>T ENST00000445192.2 + 7 1176 c.1131C>T c.(1129-1131)acC>acT p.T377T PRG4_ENST00000367484.3_Silent_p.T336T|PRG4_ENST00000367486.3_Silent_p.T334T|PRG4_ENST00000367483.4_Silent_p.T336T|PRG4_ENST00000367485.4_Silent_p.T284T NM_005807.3 NP_005798.2 Q92954 PRG4_HUMAN proteoglycan 4 377 59 X 8 AA repeats of K-X-P-X-P-T-T-X. cell proliferation|immune response extracellular region polysaccharide binding|protein binding|scavenger receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1) 102 CACCCACCACCCCCAAGGAGC 0.637000 4 174 0 0 1 0 0 KRTAP5-10 387273 broad.mit.edu 37 11 71276851 71276851 + Missense_Mutation SNP A A G rs36179995 TCGA-FY-A40M-01A-11D-A23M-08 TCGA-FY-A40M-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx f013bd51-dfbc-4f81-88ce-2d2d1188a116 738918d8-2f03-4344-a87a-21a0e1cdca57 g.chr11:71276851A>G ENST00000398531.1 + 1 243 c.218A>G c.(217-219)gAc>gGc p.D73G KRTAP5-10_ENST00000376536.4_Missense_Mutation_p.D73G NM_001012710.1 NP_001012728.1 Q6L8G5 KR510_HUMAN keratin associated protein 5-10 73 7 X 4 AA repeats of C-C-X-P. keratin filament endometrium(2)|large_intestine(1)|lung(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 12 TCCAAGGGGGACTGTGGCTCT 0.672000 23 286 0 0 1 0 0 BNC2 54796 broad.mit.edu 37 9 16727837 16727837 + Nonsense_Mutation SNP C C T TCGA-FY-A40M-01A-11D-A23M-08 TCGA-FY-A40M-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx f013bd51-dfbc-4f81-88ce-2d2d1188a116 738918d8-2f03-4344-a87a-21a0e1cdca57 g.chr9:16727837C>T ENST00000380672.4 - 3 345 c.288G>A c.(286-288)tgG>tgA p.W96* BNC2_ENST00000380666.2_Nonsense_Mutation_p.W96*|BNC2_ENST00000545497.1_Intron|BNC2_ENST00000380667.2_Intron NM_017637.5 NP_060107.3 Q6ZN30 BNC2_HUMAN basonuclin 2 96 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane zinc ion binding NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2) 60 GBM - Glioblastoma multiforme(50;9.01e-08) CAGCGTTTTGCCATGTCCCCA 0.403000 4 155 0 0 1 0 0 ZNF385D 79750 broad.mit.edu 37 3 21462850 21462850 + Silent SNP T T A TCGA-FY-A40M-01A-11D-A23M-08 TCGA-FY-A40M-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx f013bd51-dfbc-4f81-88ce-2d2d1188a116 738918d8-2f03-4344-a87a-21a0e1cdca57 g.chr3:21462850T>A ENST00000281523.2 - 8 1562 c.1044A>T c.(1042-1044)gcA>gcT p.A348A NM_024697.2 NP_078973.1 Q9H6B1 Z385D_HUMAN zinc finger protein 385D 348 Poly-Ala. nucleus nucleic acid binding|zinc ion binding NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4) 46 TCActgccactgctgctgcgg 0.542000 11 17 0 0 1 0 0 COL8A1 1295 broad.mit.edu 37 3 99514780 99514780 + Missense_Mutation SNP T T A TCGA-FY-A40M-01A-11D-A23M-08 TCGA-FY-A40M-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx f013bd51-dfbc-4f81-88ce-2d2d1188a116 738918d8-2f03-4344-a87a-21a0e1cdca57 g.chr3:99514780T>A ENST00000261037.3 + 5 2415 c.2035T>A c.(2035-2037)Ttc>Atc p.F679I COL8A1_ENST00000273342.4_Missense_Mutation_p.F679I NM_001850.4 NP_001841.2 P27658 CO8A1_HUMAN collagen, type VIII, alpha 1 679 C1q.|Nonhelical region (NC1). angiogenesis|cell adhesion basement membrane|collagen type VIII breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(15)|skin(5)|upper_aerodigestive_tract(1) 27 GGTTGCTCTATTCAAGAACAA 0.557000 28 34 0 0 1 0 0 AC105399.2 0 broad.mit.edu 37 2 78019880 78019880 + RNA DEL T T - TCGA-FY-A40M-01A-11D-A23M-08 TCGA-FY-A40M-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx f013bd51-dfbc-4f81-88ce-2d2d1188a116 738918d8-2f03-4344-a87a-21a0e1cdca57 g.chr2:78019880delT ENST00000422418.1 + 0 130 TAAAAATTCCTTTTTTTTTTT 0.393 2 4 --- --- --- --- AC079305.8 0 broad.mit.edu 37 2 178063145 178063168 + RNA DEL TGGGCTCCAGCTTTGGCTCTGGCG TGGGCTCCAGCTTTGGCTCTGGCG - TCGA-FY-A40M-01A-11D-A23M-08 TCGA-FY-A40M-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx f013bd51-dfbc-4f81-88ce-2d2d1188a116 738918d8-2f03-4344-a87a-21a0e1cdca57 g.chr2:178063145_178063168delTGGGCTCCAGCTTTGGCTCTGGCG ENST00000455416.1 - 0 166 AGCTACGGCCTGGGCTCCAGCTTTGGCTCTGGCGTGGGCTCCAG 0.598 5 9 --- --- --- --- RP11-453E17.1 0 broad.mit.edu 37 4 68632418 68632419 + RNA INS - - ACACACAT rs59536241 by1000genomes TCGA-FY-A40M-01A-11D-A23M-08 TCGA-FY-A40M-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx f013bd51-dfbc-4f81-88ce-2d2d1188a116 738918d8-2f03-4344-a87a-21a0e1cdca57 g.chr4:68632418_68632419insACACACAT ENST00000500538.2 + 0 1905 RP11-453E17.1_ENST00000502758.1_RNA cacacacacacaTATATATAct 0.431 9 6 --- --- --- --- MSH3 4437 broad.mit.edu 37 5 79950742 79950750 + In_Frame_Del DEL CCCCCAGCT CCCCCAGCT - rs3045983 TCGA-FY-A40M-01A-11D-A23M-08 TCGA-FY-A40M-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx f013bd51-dfbc-4f81-88ce-2d2d1188a116 738918d8-2f03-4344-a87a-21a0e1cdca57 g.chr5:79950742_79950750delCCCCCAGCT ENST00000265081.6 + 1 276_284 c.196_204delCCCCCAGCT c.(196-204)del p.PPA66del DHFR_ENST00000439211.2_5'UTR NM_002439.4 NP_002430.3 P20585 MSH3_HUMAN mutS homolog 3 66 maintenance of DNA repeat elements|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|somatic recombination of immunoglobulin gene segments MutSbeta complex|nuclear chromosome ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|enzyme binding|loop DNA binding|Y-form DNA binding NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 29 Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244) OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33) gCCCCCAGCGCCCCCAGCTCCCGCCTTCC 0.732 Mismatch excision repair (MMR) 8 5 --- --- --- --- CCT6P1 0 broad.mit.edu 37 7 65222951 65222951 + RNA DEL T T - TCGA-FY-A40M-01A-11D-A23M-08 TCGA-FY-A40M-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx f013bd51-dfbc-4f81-88ce-2d2d1188a116 738918d8-2f03-4344-a87a-21a0e1cdca57 g.chr7:65222951delT ENST00000442266.1 + 0 561 TTTCTGTAACTTTTTTTTTTT 0.323 3 5 --- --- --- --- PODXL 5420 broad.mit.edu 37 7 131241030 131241035 + In_Frame_Del DEL GGCGAC GGCGAC - rs11277659 TCGA-FY-A40M-01A-11D-A23M-08 TCGA-FY-A40M-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx f013bd51-dfbc-4f81-88ce-2d2d1188a116 738918d8-2f03-4344-a87a-21a0e1cdca57 g.chr7:131241030_131241035delGGCGAC ENST00000541194.1 - 1 341_346 c.84_89delGTCGCC c.(82-90)ccc>cc p.PSP28del PODXL_ENST00000465001.1_Intron|PODXL_ENST00000378555.3_In_Frame_Del_p.PSP28del|PODXL_ENST00000537928.1_In_Frame_Del_p.PSP28del|PODXL_ENST00000322985.9_In_Frame_Del_p.PSP28del NM_001018111.2 NP_001018121.1 O00592 PODXL_HUMAN podocalyxin-like 28 cell adhesion|epithelial tube formation|negative regulation of cell-cell adhesion|positive regulation of cell migration|positive regulation of cell-cell adhesion mediated by integrin|regulation of microvillus assembly actin cytoskeleton|apical plasma membrane|centrosome|filopodium|integral to plasma membrane|lamellipodium|membrane raft|microvillus membrane|nucleolus|ruffle p.P30_S31delPS(2) NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 24 Melanoma(18;0.162) ATTCTGGGAGggcgacggcgacggcg 0.748 5 10 --- --- --- --- MNX1 3110 broad.mit.edu 37 7 156802527 156802529 + In_Frame_Del DEL GCC GCC - TCGA-FY-A40M-01A-11D-A23M-08 TCGA-FY-A40M-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx f013bd51-dfbc-4f81-88ce-2d2d1188a116 738918d8-2f03-4344-a87a-21a0e1cdca57 g.chr7:156802527_156802529delGCC ENST00000252971.6 - 1 816_818 c.516_518delGGC c.(514-519)gct>gc p.AA172del NM_005515.3 NP_005506.3 P50219 MNX1_HUMAN motor neuron and pancreas homeobox 1 172 Poly-Ala. humoral immune response|regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(1)|large_intestine(1)|lung(4)|skin(1) 7 Ovarian(565;0.218) all_hematologic(28;0.0592) OV - Ovarian serous cystadenocarcinoma(82;0.00301) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) CGCCAGCGCAGCCGCCGCCGCCG 0.803 2 4 --- --- --- --- KRT1 3848 broad.mit.edu 37 12 53069236 53069256 + In_Frame_Del DEL TAGCTGCTACCTCCGGAGCCA TAGCTGCTACCTCCGGAGCCA - rs66529359 by1000genomes TCGA-FY-A40M-01A-11D-A23M-08 TCGA-FY-A40M-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx f013bd51-dfbc-4f81-88ce-2d2d1188a116 738918d8-2f03-4344-a87a-21a0e1cdca57 g.chr12:53069236_53069256delTAGCTGCTACCTCCGGAGCCA ENST00000252244.3 - 9 1714_1734 c.1656_1676delTGGCTCCGGAGGTAGCAGCTA c.(1654-1677)tac>ta p.YGSGGSSY552del NM_006121.3 NP_006112.3 P04264 K2C1_HUMAN keratin 1 552 Gly/Ser-rich.|Tail. complement activation, lectin pathway|epidermis development|fibrinolysis|regulation of angiogenesis|response to oxidative stress plasma membrane protein binding|receptor activity|structural constituent of cytoskeleton|sugar binding p.S557_G563delSSYGSGG(3) breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(7)|skin(3) 39 tccggagccgtagctgctacctccggagccatagctgccac 0.688 8 3 --- --- --- --- EP400 57634 broad.mit.edu 37 12 132547093 132547094 + In_Frame_Ins INS - - CAG rs113304321 by1000genomes TCGA-FY-A40M-01A-11D-A23M-08 TCGA-FY-A40M-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx f013bd51-dfbc-4f81-88ce-2d2d1188a116 738918d8-2f03-4344-a87a-21a0e1cdca57 g.chr12:132547093_132547094insCAG ENST00000333577.4 + 48 8398_8399 c.8289_8290insCAG c.(8287-8292)caagca>caCAGagca p.2763_2763Q>HR EP400_ENST00000332482.4_In_Frame_Ins_p.2690_2690Q>HR|EP400_ENST00000330386.6_In_Frame_Ins_p.2646_2646Q>HR|EP400_ENST00000389561.2_In_Frame_Ins_p.2727_2727Q>HR|EP400_ENST00000389562.2_In_Frame_Ins_p.2726_2726Q>HR Q96L91 EP400_HUMAN E1A binding protein p400 2763 Interaction with ZNF42 (By similarity).|Poly-Gln. histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity p.Q2726Q(9) NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 161 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) agcagcaacaacagcagcagca 0.564 15 69 --- --- --- ---