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 EP400 57634 broad.mit.edu 37 12 132547087 132547087 + Silent SNP G G A rs12366766 TCGA-DU-6400-01A-12D-1705-08 TCGA-DU-6400-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44fb8d94-aa0a-4da3-bf17-322889da1fb2 e2693558-ff23-4532-9d26-b6fe815e9934 g.chr12:132547087G>A ENST00000333577.4 + 48 8392 c.8283G>A c.(8281-8283)caG>caA p.Q2761Q EP400_ENST00000330386.6_Silent_p.Q2644Q|EP400_ENST00000389561.2_Silent_p.Q2725Q|EP400_ENST00000332482.4_Silent_p.Q2688Q|EP400_ENST00000389562.2_Silent_p.Q2724Q Q96L91 EP400_HUMAN E1A binding protein p400 2761 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.Q2724Q(16)|p.Q2725Q(1) 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) agcagcagcagcaacaacagc 0.562000 3 23 0 0 0.004672 0 0 PPIG 9360 broad.mit.edu 37 2 170460747 170460747 + Missense_Mutation SNP G G A TCGA-DU-6400-01A-12D-1705-08 TCGA-DU-6400-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44fb8d94-aa0a-4da3-bf17-322889da1fb2 e2693558-ff23-4532-9d26-b6fe815e9934 g.chr2:170460747G>A ENST00000260970.3 + 4 332 c.112G>A c.(112-114)Gag>Aag p.E38K PPIG_ENST00000448752.2_Missense_Mutation_p.E38K|PPIG_ENST00000409714.3_Missense_Mutation_p.E38K|PPIG_ENST00000462903.1_Missense_Mutation_p.E38K NM_004792.2 NP_004783.2 Q13427 PPIG_HUMAN peptidylprolyl isomerase G (cyclophilin G) 38 PPIase cyclophilin-type. protein folding|RNA splicing nuclear matrix|nuclear speck cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(17)|ovary(2)|stomach(1)|urinary_tract(1) 43 L-Proline(DB00172) CAAAACATGCGAGAACTTTCG 0.343000 28 94 0 0 0.050027 0 0 NMD3 51068 broad.mit.edu 37 3 160952983 160952983 + Missense_Mutation SNP G G A TCGA-DU-6400-01A-12D-1705-08 TCGA-DU-6400-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44fb8d94-aa0a-4da3-bf17-322889da1fb2 e2693558-ff23-4532-9d26-b6fe815e9934 g.chr3:160952983G>A ENST00000460469.1 + 6 1015 c.560G>A c.(559-561)cGt>cAt p.R187H NMD3_ENST00000351193.2_Missense_Mutation_p.R187H|NMD3_ENST00000478160.1_3'UTR|NMD3_ENST00000472947.1_Missense_Mutation_p.R187H Q96D46 NMD3_HUMAN NMD3 ribosome export adaptor 187 protein transport cytoplasm|nucleolus|nucleoplasm cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(10)|ovary(1)|skin(1)|urinary_tract(2) 25 Lung(72;0.00111)|LUSC - Lung squamous cell carcinoma(72;0.00156) AATACACTTCGTATCAAAGAG 0.249000 26 29 0 0 0.108266 0 0 ALDH3B2 222 broad.mit.edu 37 11 67433865 67433865 + Silent SNP G G A TCGA-DU-6400-01A-12D-1705-08 TCGA-DU-6400-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44fb8d94-aa0a-4da3-bf17-322889da1fb2 e2693558-ff23-4532-9d26-b6fe815e9934 g.chr11:67433865G>A ENST00000349015.3 - 5 597 c.159C>T c.(157-159)tgC>tgT p.C53C ALDH3B2_ENST00000530069.1_Silent_p.C53C NM_000695.3 NP_000686.2 P48448 AL3B2_HUMAN aldehyde dehydrogenase 3 family, member B2 53 alcohol metabolic process|cellular aldehyde metabolic process|lipid metabolic process 3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1) 18 NADH(DB00157) TCAGCACCACGCAACTCCCTG 0.672000 3 8 0 0 0.004672 0 0 DPY19L2 283417 broad.mit.edu 37 12 64020270 64020270 + Missense_Mutation SNP G G C TCGA-DU-6400-01A-12D-1705-08 TCGA-DU-6400-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44fb8d94-aa0a-4da3-bf17-322889da1fb2 e2693558-ff23-4532-9d26-b6fe815e9934 g.chr12:64020270G>C ENST00000324472.4 - 7 1023 c.840C>G c.(838-840)tgC>tgG p.C280W RP11-415I12.3_ENST00000509615.2_RNA NM_173812.4 NP_776173.3 Q6NUT2 D19L2_HUMAN dpy-19-like 2 (C. elegans) 280 multicellular organismal development|spermatid development integral to membrane breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 GBM - Glioblastoma multiforme(1;2.77e-05) GBM - Glioblastoma multiforme(28;0.044) TGAAAAAGAAGCACAGTACTG 0.313000 10 17 0 0 0.058154 0 0 PIEZO2 63895 broad.mit.edu 37 18 10677809 10677809 + Silent SNP A A G TCGA-DU-6400-01A-12D-1705-08 TCGA-DU-6400-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44fb8d94-aa0a-4da3-bf17-322889da1fb2 e2693558-ff23-4532-9d26-b6fe815e9934 g.chr18:10677809A>G ENST00000302079.6 - 48 7487 c.7488T>C c.(7486-7488)aaT>aaC p.N2496N PIEZO2_ENST00000538948.1_Silent_p.N516N|PIEZO2_ENST00000581680.1_5'UTR|PIEZO2_ENST00000503781.3_Silent_p.N2559N|PIEZO2_ENST00000580640.1_Silent_p.N2584N|PIEZO2_ENST00000285141.4_Silent_p.N351N Q9H5I5 PIEZ2_HUMAN piezo-type mechanosensitive ion channel component 2 2559 integral to membrane ion channel activity TTCGAGTAATATTTTTAAGAG 0.323000 5 53 0 0 0.014758 0 0 DBC1 0 broad.mit.edu 37 9 122075489 122075489 + Missense_Mutation SNP G G A TCGA-DU-6400-01A-12D-1705-08 TCGA-DU-6400-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44fb8d94-aa0a-4da3-bf17-322889da1fb2 e2693558-ff23-4532-9d26-b6fe815e9934 g.chr9:122075489G>A ENST00000265922.3 - 2 606 c.145C>T c.(145-147)Cac>Tac p.H49Y DBC1_ENST00000373964.2_Missense_Mutation_p.H49Y NM_014618.2 NP_055433.2 O60477 DBC1_HUMAN 49 cell cycle arrest|cell death cytoplasm protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 83 CTGGAGTGGTGGAAAGGCCCC 0.502000 7 46 0 0 0.029380 0 0 SVIL 6840 broad.mit.edu 37 10 29820187 29820187 + Silent SNP G G A TCGA-DU-6400-01A-12D-1705-08 TCGA-DU-6400-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44fb8d94-aa0a-4da3-bf17-322889da1fb2 e2693558-ff23-4532-9d26-b6fe815e9934 g.chr10:29820187G>A ENST00000375398.2 - 12 2489 c.2040C>T c.(2038-2040)gtC>gtT p.V680V SVIL_ENST00000375400.3_Silent_p.V286V|SVIL_ENST00000355867.4_Silent_p.V680V O95425 SVIL_HUMAN supervillin 680 cytoskeleton organization|skeletal muscle tissue development cell junction|costamere|invadopodium|nucleus|podosome actin filament binding breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2) 112 Breast(68;0.103) ACTTGCCATCGACAGTTGGCG 0.358000 12 37 0 0 0.105934 0 0 PCDH11X 27328 broad.mit.edu 37 X 91090710 91090710 + Silent SNP C C T TCGA-DU-6400-01A-12D-1705-08 TCGA-DU-6400-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44fb8d94-aa0a-4da3-bf17-322889da1fb2 e2693558-ff23-4532-9d26-b6fe815e9934 g.chrX:91090710C>T ENST00000373094.1 + 1 1052 c.207C>T c.(205-207)acC>acT p.T69T PCDH11X_ENST00000373097.1_Silent_p.T69T|PCDH11X_ENST00000395337.2_Silent_p.T69T|PCDH11X_ENST00000361655.2_Silent_p.T69T|PCDH11X_ENST00000361724.1_Silent_p.T69T|PCDH11X_ENST00000373088.1_Silent_p.T69T|PCDH11X_ENST00000298274.8_Silent_p.T69T|PCDH11X_ENST00000504220.1_Silent_p.T69T|PCDH11X_ENST00000406881.1_Silent_p.T69T NM_032968.3 NP_116750.1 Q9BZA7 PC11X_HUMAN protocadherin 11 X-linked 69 Cadherin 1. homophilic cell adhesion integral to plasma membrane calcium ion binding NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 159 TGTACAAGACCGGAGATGTGC 0.458000 27 134 0 0 0.108266 0 0 LRRC8B 23507 broad.mit.edu 37 1 90048483 90048483 + Nonsense_Mutation SNP C C T TCGA-DU-6400-01A-12D-1705-08 TCGA-DU-6400-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44fb8d94-aa0a-4da3-bf17-322889da1fb2 e2693558-ff23-4532-9d26-b6fe815e9934 g.chr1:90048483C>T ENST00000330947.2 + 5 634 c.274C>T c.(274-276)Cga>Tga p.R92* LRRC8B_ENST00000358200.4_Nonsense_Mutation_p.R92*|LRRC8B_ENST00000439853.1_Nonsense_Mutation_p.R92* NM_001134476.1 NP_001127948.1 Q6P9F7 LRC8B_HUMAN leucine rich repeat containing 8 family, member B 92 integral to membrane breast(1)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1) 26 all_lung(203;0.17) all cancers(265;0.00515)|Epithelial(280;0.0241) GCTCCCCCTCCGAATTCAGAA 0.498000 53 9 0 0 0.048971 0 0 CIC 23152 broad.mit.edu 37 19 42791721 42791721 + Missense_Mutation SNP C C T TCGA-DU-6400-01A-12D-1705-08 TCGA-DU-6400-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44fb8d94-aa0a-4da3-bf17-322889da1fb2 e2693558-ff23-4532-9d26-b6fe815e9934 g.chr19:42791721C>T ENST00000572681.2 + 6 3402 c.3334C>T c.(3334-3336)Ccc>Tcc p.P1112S CIC_ENST00000575354.2_Missense_Mutation_p.P203S|CIC_ENST00000160740.3_Missense_Mutation_p.P203S Q96RK0 CIC_HUMAN capicua transcriptional repressor 203 Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 82 Prostate(69;0.00682) CATCCGGCGGCCCATGAATGC 0.627000 """Mis, F, S""" oligodendroglioma 12 24 0 0 0.093190 0 0 NUDT10 170685 broad.mit.edu 37 X 51075880 51075880 + Silent SNP G G A TCGA-DU-6400-01A-12D-1705-08 TCGA-DU-6400-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44fb8d94-aa0a-4da3-bf17-322889da1fb2 e2693558-ff23-4532-9d26-b6fe815e9934 g.chrX:51075880G>A ENST00000376006.3 + 2 283 c.63G>A c.(61-63)gcG>gcA p.A21A NUDT10_ENST00000356450.2_Silent_p.A21A NM_153183.2 NP_694853.1 Q8NFP7 NUD10_HUMAN nudix (nucleoside diphosphate linked moiety X)-type motif 10 21 Nudix hydrolase. cytoplasm diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding cervix(1)|endometrium(8)|kidney(1)|large_intestine(1)|lung(1)|prostate(3)|upper_aerodigestive_tract(1) 16 Ovarian(276;0.236) AGCGGGCGGCGTGCCTGTGCT 0.672000 12 9 0 0 0.093190 0 0 TTC14 151613 broad.mit.edu 37 3 180327531 180327531 + Missense_Mutation SNP A A G TCGA-DU-6400-01A-12D-1705-08 TCGA-DU-6400-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44fb8d94-aa0a-4da3-bf17-322889da1fb2 e2693558-ff23-4532-9d26-b6fe815e9934 g.chr3:180327531A>G ENST00000296015.4 + 12 1646 c.1514A>G c.(1513-1515)cAt>cGt p.H505R TTC14_ENST00000465625.1_3'UTR|TTC14_ENST00000412756.2_3'UTR|TTC14_ENST00000382584.4_Missense_Mutation_p.H505R NM_133462.3 NP_597719.1 Q96N46 TTC14_HUMAN tetratricopeptide repeat domain 14 505 Ser-rich. RNA binding endometrium(3)|kidney(5)|large_intestine(9)|lung(24)|ovary(2)|pancreas(1)|skin(1) 45 all_cancers(143;9.31e-15)|Ovarian(172;0.0212) OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558) CATAAGAAACATAAGAGGAAC 0.413000 17 54 0 0 0.033300 0 0 ZC3H12B 340554 broad.mit.edu 37 X 64721755 64721755 + Missense_Mutation SNP C C T TCGA-DU-6400-01A-12D-1705-08 TCGA-DU-6400-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44fb8d94-aa0a-4da3-bf17-322889da1fb2 e2693558-ff23-4532-9d26-b6fe815e9934 g.chrX:64721755C>T ENST00000338957.4 + 5 1244 c.1177C>T c.(1177-1179)Cgc>Tgc p.R393C ZC3H12B_ENST00000423889.3_Missense_Mutation_p.R382C NM_001010888.3 NP_001010888.3 Q5HYM0 ZC12B_HUMAN zinc finger CCCH-type containing 12B 382 endonuclease activity|nucleic acid binding|zinc ion binding breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 TGATGAGCTCCGCATCAGTGC 0.522000 7 15 0 0 0.029380 0 0 NOTCH1 4851 broad.mit.edu 37 9 139412252 139412252 + Missense_Mutation SNP C C T TCGA-DU-6400-01A-12D-1705-08 TCGA-DU-6400-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44fb8d94-aa0a-4da3-bf17-322889da1fb2 e2693558-ff23-4532-9d26-b6fe815e9934 g.chr9:139412252C>T ENST00000277541.6 - 8 1468 c.1393G>A c.(1393-1395)Gcc>Acc p.A465T NM_017617.3 NP_060087.3 P46531 NOTC1_HUMAN notch 1 465 EGF-like 12; calcium-binding (Potential). aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3) 1359 all_cancers(76;0.223) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06) AGGCAGGTGGCGTCGTTCTGG 0.672000 """T, Mis, O""" TRB@ T-ALL HNSCC(8;0.001) 6 51 0 0 0.021553 0 0 NOTCH1 4851 broad.mit.edu 37 9 139399401 139399401 + Missense_Mutation SNP G G T TCGA-DU-6400-01A-12D-1705-08 TCGA-DU-6400-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44fb8d94-aa0a-4da3-bf17-322889da1fb2 e2693558-ff23-4532-9d26-b6fe815e9934 g.chr9:139399401G>T ENST00000277541.6 - 26 4817 c.4742C>A c.(4741-4743)cCg>cAg p.P1581Q NM_017617.3 NP_060087.3 P46531 NOTC1_HUMAN notch 1 1581 aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3) 1359 all_cancers(76;0.223) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06) CTGCTCCGGCGGCATCAGCAC 0.682000 """T, Mis, O""" TRB@ T-ALL HNSCC(8;0.001) 2 3 0.0016 0.00162254 0.004672 1 0 D86994.2 0 broad.mit.edu 37 22 23006961 23006961 + RNA SNP C C T TCGA-DU-6400-01A-12D-1705-08 TCGA-DU-6400-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44fb8d94-aa0a-4da3-bf17-322889da1fb2 e2693558-ff23-4532-9d26-b6fe815e9934 g.chr22:23006961C>T ENST00000385099.1 + 0 64 GGCTCTGCTCCTCCTCACCCT 0.627000 3 6 0 0 0.009096 0 0 MROH2B 133558 broad.mit.edu 37 5 41004891 41004891 + Silent SNP G G A TCGA-DU-6400-01A-12D-1705-08 TCGA-DU-6400-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44fb8d94-aa0a-4da3-bf17-322889da1fb2 e2693558-ff23-4532-9d26-b6fe815e9934 g.chr5:41004891G>A ENST00000399564.4 - 36 4446 c.3996C>T c.(3994-3996)tcC>tcT p.S1332S MROH2B_ENST00000506092.2_Silent_p.S887S NM_173489.4 NP_775760.3 maestro heat-like repeat family member 2B GAGGAGCCCCGGATGCTGTGT 0.478000 8 53 0 0 0.047766 0 0 SLC6A3 6531 broad.mit.edu 37 5 1409936 1409936 + Missense_Mutation SNP C C T TCGA-DU-6400-01A-12D-1705-08 TCGA-DU-6400-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44fb8d94-aa0a-4da3-bf17-322889da1fb2 e2693558-ff23-4532-9d26-b6fe815e9934 g.chr5:1409936C>T ENST00000270349.9 - 10 1425 c.1298G>A c.(1297-1299)gGg>gAg p.G433E SLC6A3_ENST00000453492.2_Missense_Mutation_p.G433E NM_001044.4 NP_001035.1 Q01959 SC6A3_HUMAN solute carrier family 6 (neurotransmitter transporter), member 3 433 cell death|neurotransmitter biosynthetic process axon|cytoplasm|integral to plasma membrane|neuronal cell body breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 38 OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262) Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721) ATCGATGAGCCCGGTGATCAC 0.612000 18 37 0 0 0.033300 0 0 SLC11A1 6556 broad.mit.edu 37 2 219258872 219258872 + Silent SNP G G A TCGA-DU-6400-01A-12D-1705-08 TCGA-DU-6400-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44fb8d94-aa0a-4da3-bf17-322889da1fb2 e2693558-ff23-4532-9d26-b6fe815e9934 g.chr2:219258872G>A ENST00000233202.6 + 13 1684 c.1344G>A c.(1342-1344)acG>acA p.T448T SLC11A1_ENST00000539932.1_Silent_p.T330T NM_000578.3 NP_000569.3 P49279 NRAM1_HUMAN solute carrier family 11 (proton-coupled divalent metal ion transporter), member 1 448 activation of protein kinase activity|antigen processing and presentation of peptide antigen|cadmium ion transmembrane transport|cellular cadmium ion homeostasis|cellular iron ion homeostasis|defense response to Gram-negative bacterium|defense response to protozoan|divalent metal ion export|inflammatory response|interleukin-2 production|interleukin-3 production|iron ion transport|L-arginine import|macrophage activation|MHC class II biosynthetic process|mRNA stabilization|multicellular organismal iron ion homeostasis|negative regulation of cytokine production|nitrite transport|phagocytosis|positive regulation of dendritic cell antigen processing and presentation|positive regulation of interferon-gamma production|positive regulation of phagocytosis|positive regulation of T-helper 1 type immune response|positive regulation of transcription from RNA polymerase II promoter|respiratory burst|response to interferon-gamma|response to lipopolysaccharide|T cell cytokine production|T cell proliferation involved in immune response|vacuolar acidification|wound healing integral to plasma membrane|late endosome membrane|lysosome|phagocytic vesicle membrane|tertiary granule membrane manganese ion transmembrane transporter activity|metal ion:hydrogen antiporter activity|protein homodimerization activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 19 Renal(207;0.0474) Epithelial(149;1.16e-06)|all cancers(144;0.000195)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) CCATCCTCACGTTCACCAGCA 0.582000 8 45 0 0 0.069234 0 0 CCDC13 152206 broad.mit.edu 37 3 42754752 42754752 + Missense_Mutation SNP C C T TCGA-DU-6400-01A-12D-1705-08 TCGA-DU-6400-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44fb8d94-aa0a-4da3-bf17-322889da1fb2 e2693558-ff23-4532-9d26-b6fe815e9934 g.chr3:42754752C>T ENST00000310232.6 - 14 1858 c.1775G>A c.(1774-1776)cGa>cAa p.R592Q NM_144719.3 NP_653320.3 Q8IYE1 CCD13_HUMAN coiled-coil domain containing 13 592 endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1) 25 GGTGCGGTGTCGCTCCTCCTG 0.602000 23 97 0 0 0.030593 0 0 GPR112 139378 broad.mit.edu 37 X 135405538 135405538 + Silent SNP G G A TCGA-DU-6400-01A-12D-1705-08 TCGA-DU-6400-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44fb8d94-aa0a-4da3-bf17-322889da1fb2 e2693558-ff23-4532-9d26-b6fe815e9934 g.chrX:135405538G>A ENST00000394143.1 + 5 963 c.672G>A c.(670-672)agG>agA p.R224R GPR112_ENST00000370652.1_Silent_p.R224R|GPR112_ENST00000412101.1_Intron|GPR112_ENST00000394141.1_Intron|GPR112_ENST00000287534.4_Silent_p.R161R NM_153834.3 NP_722576.3 Q8IZF6 GP112_HUMAN G protein-coupled receptor 112 224 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2) 199 Acute lymphoblastic leukemia(192;0.000127) CTGTTGACAGGACACTGCGCT 0.433000 12 131 0 0 0.105934 0 0 PLIN4 729359 broad.mit.edu 37 19 4511137 4511137 + Silent SNP G G A TCGA-DU-6400-01A-12D-1705-08 TCGA-DU-6400-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44fb8d94-aa0a-4da3-bf17-322889da1fb2 e2693558-ff23-4532-9d26-b6fe815e9934 g.chr19:4511137G>A ENST00000301286.3 - 3 2792 c.2793C>T c.(2791-2793)acC>acT p.T931T NM_001080400.1 NP_001073869.1 Q96Q06 PLIN4_HUMAN perilipin 4 931 27 X 33 AA approximate tandem repeat. lipid particle|plasma membrane NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2) 41 CTGTCTGGACGGTCCCTTTGG 0.597000 12 52 0 0 0.093190 0 0 PLEKHG4B 153478 broad.mit.edu 37 5 169649 169649 + Missense_Mutation SNP G G A rs139086978 TCGA-DU-6400-01A-12D-1705-08 TCGA-DU-6400-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44fb8d94-aa0a-4da3-bf17-322889da1fb2 e2693558-ff23-4532-9d26-b6fe815e9934 g.chr5:169649G>A ENST00000283426.6 + 12 2653 c.2603G>A c.(2602-2604)cGg>cAg p.R868Q NM_052909.3 NP_443141.3 Q96PX9 PKH4B_HUMAN pleckstrin homology domain containing, family G (with RhoGef domain) member 4B 868 DH. regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity p.R868Q(1)|p.R59Q(1) endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3) 11 all cancers(22;0.0253)|Lung(60;0.113) Kidney(1;0.119) CACTTCCTCCGGGAGCTGGAG 0.622000 30 50 0 0 0.041601 0 0 CADM1 23705 broad.mit.edu 37 11 115080343 115080343 + Silent SNP G G T TCGA-DU-6400-01A-12D-1705-08 TCGA-DU-6400-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44fb8d94-aa0a-4da3-bf17-322889da1fb2 e2693558-ff23-4532-9d26-b6fe815e9934 g.chr11:115080343G>T ENST00000537058.1 - 8 1049 c.1029C>A c.(1027-1029)acC>acA p.T343T CADM1_ENST00000331581.6_Silent_p.T343T|CADM1_ENST00000542447.2_Intron|CADM1_ENST00000537140.1_Intron|CADM1_ENST00000536727.1_Intron|CADM1_ENST00000452722.2_Silent_p.T343T Q9BY67 CADM1_HUMAN cell adhesion molecule 1 343 PPTTIPPPTTTTTTTTTTTTTILTIIT -> TTATTEPAVH GLTQLPNSAEELDSEDLS (in Ref. 3; BAC11657). adherens junction organization|apoptosis|cell differentiation|cell junction assembly|cell recognition|detection of stimulus|heterophilic cell-cell adhesion|homophilic cell adhesion|multicellular organismal development|positive regulation of cytokine secretion|spermatogenesis|susceptibility to natural killer cell mediated cytotoxicity basolateral plasma membrane|cell-cell junction|integral to membrane PDZ domain binding|protein C-terminus binding|protein homodimerization activity|receptor binding p.T343T(5) cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1) 32 all_hematologic(175;0.0628) all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237) BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303) tggtggtggtggttgttgtgg 0.433000 4 36 0.00024832 0.000255415 0.009096 1 0 DLX4 0 broad.mit.edu 37 17 48051291 48051291 + Missense_Mutation SNP C C T TCGA-DU-6400-01A-12D-1705-08 TCGA-DU-6400-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44fb8d94-aa0a-4da3-bf17-322889da1fb2 e2693558-ff23-4532-9d26-b6fe815e9934 g.chr17:48051291C>T ENST00000240306.3 + 3 1002 c.707C>T c.(706-708)tCg>tTg p.S236L DLX4_ENST00000411890.2_Missense_Mutation_p.S164L NM_138281.2 NP_612138.1 Q92988 DLX4_HUMAN distal-less homeobox 4 236 multicellular organismal development nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.S236L(1) central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(3) 10 GTCCTGGCTTCGCCTCAGATG 0.617000 20 22 0 0 0.055883 0 0 ANKRD30BP2 0 broad.mit.edu 37 21 14414855 14414855 + RNA SNP A A G rs141732548 by1000genomes TCGA-DU-6400-01A-12D-1705-08 TCGA-DU-6400-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44fb8d94-aa0a-4da3-bf17-322889da1fb2 e2693558-ff23-4532-9d26-b6fe815e9934 g.chr21:14414855A>G ENST00000507941.1 + 0 95 GCCAATGGCCATGCAGAAGTA 0.448000 4 32 0 0 0.021553 0 0 KIFC2 90990 broad.mit.edu 37 8 145694030 145694030 + Missense_Mutation SNP G G A TCGA-DU-6400-01A-12D-1705-08 TCGA-DU-6400-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44fb8d94-aa0a-4da3-bf17-322889da1fb2 e2693558-ff23-4532-9d26-b6fe815e9934 g.chr8:145694030G>A ENST00000301332.2 + 9 1377 c.1000G>A c.(1000-1002)Gca>Aca p.A334T KIFC2_ENST00000301331.5_Missense_Mutation_p.A82T NM_145754.2 NP_665697.1 Q96AC6 KIFC2_HUMAN kinesin family member C2 334 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity|protein binding central_nervous_system(1)|endometrium(1)|kidney(1)|lung(7)|ovary(3)|prostate(3)|skin(2)|urinary_tract(1) 19 all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055) TGGGCAGCTGGCAGGTAAGGG 0.652000 9 29 0 0 0.047766 0 0 RP11-417J8.6 0 broad.mit.edu 37 1 142713944 142713944 + RNA SNP C C T TCGA-DU-6400-01A-12D-1705-08 TCGA-DU-6400-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44fb8d94-aa0a-4da3-bf17-322889da1fb2 e2693558-ff23-4532-9d26-b6fe815e9934 g.chr1:142713944C>T ENST00000369381.2 - 0 661 TGATTACCTCCGAAGTTAAAG 0.308000 3 20 0 0 0.009096 0 0 KIAA1217 56243 broad.mit.edu 37 10 24669943 24669943 + Missense_Mutation SNP G G A TCGA-DU-6400-01A-12D-1705-08 TCGA-DU-6400-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44fb8d94-aa0a-4da3-bf17-322889da1fb2 e2693558-ff23-4532-9d26-b6fe815e9934 g.chr10:24669943G>A ENST00000376454.3 + 3 530 c.500G>A c.(499-501)cGt>cAt p.R167H KIAA1217_ENST00000376452.3_Missense_Mutation_p.R167H|KIAA1217_ENST00000458595.1_Missense_Mutation_p.R167H|KIAA1217_ENST00000376462.1_Missense_Mutation_p.R87H|KIAA1217_ENST00000430453.2_Missense_Mutation_p.R88H NM_019590.3 NP_062536.2 Q5T5P2 SKT_HUMAN KIAA1217 167 embryonic skeletal system development cytoplasm breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1) 70 AGCCGGACTCGTGCGAGCCTT 0.532000 10 31 0 0 0.058154 0 0 APOB 338 broad.mit.edu 37 2 21230714 21230714 + Missense_Mutation SNP A A T TCGA-DU-6400-01A-12D-1705-08 TCGA-DU-6400-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44fb8d94-aa0a-4da3-bf17-322889da1fb2 e2693558-ff23-4532-9d26-b6fe815e9934 g.chr2:21230714A>T ENST00000233242.1 - 26 9153 c.9026T>A c.(9025-9027)cTg>cAg p.L3009Q NM_000384.2 NP_000375.2 P04114 APOB_HUMAN apolipoprotein B 3009 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity p.F3010fs*15(1) NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) TTCTCCAAACAGTGCCATGCC 0.418000 12 50 0 0 0.080935 0 0 ULK4 54986 broad.mit.edu 37 3 41953050 41953050 + Missense_Mutation SNP C C T TCGA-DU-6400-01A-12D-1705-08 TCGA-DU-6400-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44fb8d94-aa0a-4da3-bf17-322889da1fb2 e2693558-ff23-4532-9d26-b6fe815e9934 g.chr3:41953050C>T ENST00000301831.4 - 10 1460 c.998G>A c.(997-999)gGt>gAt p.G333D ULK4_ENST00000420927.1_Missense_Mutation_p.G333D NM_017886.2 NP_060356.2 Q96C45 ULK4_HUMAN unc-51 like kinase 4 333 ATP binding|protein serine/threonine kinase activity breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1) 22 KIRC - Kidney renal clear cell carcinoma(284;0.214) GAAAGAGTGACCTAGTGGTTG 0.408000 10 100 0 0 0.069234 0 0 IDH1 3417 broad.mit.edu 37 2 209113112 209113112 + Missense_Mutation SNP C C T rs121913500 TCGA-DU-6400-01A-12D-1705-08 TCGA-DU-6400-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44fb8d94-aa0a-4da3-bf17-322889da1fb2 e2693558-ff23-4532-9d26-b6fe815e9934 g.chr2:209113112C>T ENST00000415913.1 - 4 776 c.395G>A c.(394-396)cGt>cAt p.R132H IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H O75874 IDHC_HUMAN isocitrate dehydrogenase 1 (NADP+), soluble 132 R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). 2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle cytosol|peroxisomal matrix isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1) NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1) 4887 Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136) ATAAGCATGACGACCTATGAT 0.393000 Mis gliobastoma 29 44 0 0 0.059317 0 0 E4F1 1877 broad.mit.edu 37 16 2279638 2279638 + Missense_Mutation SNP C C T TCGA-DU-6400-01A-12D-1705-08 TCGA-DU-6400-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44fb8d94-aa0a-4da3-bf17-322889da1fb2 e2693558-ff23-4532-9d26-b6fe815e9934 g.chr16:2279638C>T ENST00000301727.4 + 3 425 c.377C>T c.(376-378)tCt>tTt p.S126F E4F1_ENST00000564139.1_Missense_Mutation_p.S126F|E4F1_ENST00000565090.1_Missense_Mutation_p.S126F NM_004424.3 NP_004415.2 Q66K89 E4F1_HUMAN E4F transcription factor 1 126 cell division|cell proliferation|interspecies interaction between organisms|mitosis|regulation of growth cytoplasm|nucleoplasm DNA binding|ligase activity|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding ovary(1) 1 GAGGCGGCCTCTCTGGCAGCA 0.617000 40 97 0 0 0.080422 0 0 N4BP3 23138 broad.mit.edu 37 5 177547253 177547253 + Silent SNP G G A TCGA-DU-6400-01A-12D-1705-08 TCGA-DU-6400-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44fb8d94-aa0a-4da3-bf17-322889da1fb2 e2693558-ff23-4532-9d26-b6fe815e9934 g.chr5:177547253G>A ENST00000274605.5 + 3 764 c.405G>A c.(403-405)gcG>gcA p.A135A NM_015111.1 NP_055926.1 O15049 N4BP3_HUMAN NEDD4 binding protein 3 135 cytoplasmic vesicle membrane breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(1)|skin(1) 9 all_cancers(89;0.00294)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) AAAGTCTGGCGTCCCACAAAG 0.682000 23 24 0 0 0.076483 0 0 DCAF8L1 139425 broad.mit.edu 37 X 27998600 27998600 + Missense_Mutation SNP C C A TCGA-DU-6400-01A-12D-1705-08 TCGA-DU-6400-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44fb8d94-aa0a-4da3-bf17-322889da1fb2 e2693558-ff23-4532-9d26-b6fe815e9934 g.chrX:27998600C>A ENST00000441525.1 - 1 966 c.852G>T c.(850-852)aaG>aaT p.K284N NM_001017930.1 NP_001017930.1 A6NGE4 DC8L1_HUMAN DDB1 and CUL4 associated factor 8-like 1 284 NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1) 56 GTCCCCTGTGCTTGGCCACAC 0.517000 15 60 1.02788e-11 1.08835e-11 0.033300 1 0 GPR116 221395 broad.mit.edu 37 6 46830657 46830657 + Missense_Mutation SNP C C T TCGA-DU-6400-01A-12D-1705-08 TCGA-DU-6400-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44fb8d94-aa0a-4da3-bf17-322889da1fb2 e2693558-ff23-4532-9d26-b6fe815e9934 g.chr6:46830657C>T ENST00000283296.7 - 15 2455 c.2167G>A c.(2167-2169)Gcc>Acc p.A723T GPR116_ENST00000362015.4_Missense_Mutation_p.A723T|GPR116_ENST00000456426.2_Missense_Mutation_p.A581T|GPR116_ENST00000265417.7_Missense_Mutation_p.A723T|GPR116_ENST00000545669.1_Missense_Mutation_p.A152T NM_001098518.1 NP_001091988.1 Q8IZF2 GP116_HUMAN G protein-coupled receptor 116 723 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 59 Lung(136;0.192) TTTATTGGGGCAGAGATGCAG 0.512000 43 132 0 0 0.111260 0 0 PGAM2 5224 broad.mit.edu 37 7 44102503 44102503 + Missense_Mutation SNP G G C TCGA-DU-6400-01A-12D-1705-08 TCGA-DU-6400-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44fb8d94-aa0a-4da3-bf17-322889da1fb2 e2693558-ff23-4532-9d26-b6fe815e9934 g.chr7:44102503G>C ENST00000297283.3 - 3 679 c.622C>G c.(622-624)Ctg>Gtg p.L208V NM_000290.3 NP_000281.2 P15259 PGAM2_HUMAN phosphoglycerate mutase 2 (muscle) 208 gluconeogenesis|glycolysis|striated muscle contraction cytosol 2,3-bisphospho-D-glycerate 2-phosphohydrolase activity|bisphosphoglycerate mutase activity large_intestine(2)|lung(4)|ovary(1)|stomach(1) 8 GGCAGGTTCAGCTCCATGATC 0.557000 8 44 0 0 0.047766 0 0 ZBED1 9189 broad.mit.edu 37 X 2407265 2407265 + Missense_Mutation SNP T T A TCGA-DU-6400-01A-12D-1705-08 TCGA-DU-6400-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44fb8d94-aa0a-4da3-bf17-322889da1fb2 e2693558-ff23-4532-9d26-b6fe815e9934 g.chrX:2407265T>A ENST00000381223.4 - 2 1699 c.1496A>T c.(1495-1497)gAa>gTa p.E499V ZBED1_ENST00000381222.2_Missense_Mutation_p.E499V|ZBED1_ENST00000381218.3_Missense_Mutation_p.E499V|DHRSX_ENST00000334651.5_Intron NM_001171135.1|NM_001171136.1|NM_004729.3 NP_001164606.1|NP_001164607.1|NP_004720.1 O96006 ZBED1_HUMAN zinc finger, BED-type containing 1 499 nuclear chromosome DNA binding|metal ion binding|protein dimerization activity|transposase activity endometrium(8)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1) 25 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) CTTGGCCTCTTCCACCACGCG 0.637000 47 49 0 0 0.048971 0 0 RGAG1 57529 broad.mit.edu 37 X 109696415 109696415 + Missense_Mutation SNP G G A TCGA-DU-6400-01A-12D-1705-08 TCGA-DU-6400-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44fb8d94-aa0a-4da3-bf17-322889da1fb2 e2693558-ff23-4532-9d26-b6fe815e9934 g.chrX:109696415G>A ENST00000465301.2 + 3 2816 c.2570G>A c.(2569-2571)gGg>gAg p.G857E RGAG1_ENST00000540313.1_Missense_Mutation_p.G857E NM_020769.2 NP_065820.1 Q8NET4 RGAG1_HUMAN retrotransposon gag domain containing 1 857 NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 73 GCCTCTGGAGGGATGTCCATG 0.527000 96 143 0 0 0.048971 0 0 ACTL9 284382 broad.mit.edu 37 19 8808420 8808420 + Missense_Mutation SNP C C T TCGA-DU-6400-01A-12D-1705-08 TCGA-DU-6400-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44fb8d94-aa0a-4da3-bf17-322889da1fb2 e2693558-ff23-4532-9d26-b6fe815e9934 g.chr19:8808420C>T ENST00000324436.3 - 1 752 c.632G>A c.(631-633)gGc>gAc p.G211D NM_178525.3 NP_848620.2 Q8TC94 ACTL9_HUMAN actin-like 9 211 cytoplasm|cytoskeleton NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(15)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1) 36 CAGGTTGTAGCCCTGGAAGAC 0.682000 24 22 0 0 0.034045 0 0 SPDL1 54908 broad.mit.edu 37 5 169026067 169026067 + Missense_Mutation SNP C C T TCGA-DU-6400-01A-12D-1705-08 TCGA-DU-6400-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44fb8d94-aa0a-4da3-bf17-322889da1fb2 e2693558-ff23-4532-9d26-b6fe815e9934 g.chr5:169026067C>T ENST00000265295.4 + 10 1507 c.1228C>T c.(1228-1230)Ctt>Ttt p.L410F NM_017785.4 NP_060255.3 spindle apparatus coiled-coil protein 1 TGAGCGAAAACTTTTTGCAAA 0.353000 5 56 0 0 0.014758 0 0 CCDC113 29070 broad.mit.edu 37 16 58292428 58292428 + Splice_Site SNP G G A TCGA-DU-6400-01A-12D-1705-08 TCGA-DU-6400-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44fb8d94-aa0a-4da3-bf17-322889da1fb2 e2693558-ff23-4532-9d26-b6fe815e9934 g.chr16:58292428G>A ENST00000219299.4 + 4 625 c.e4+1 CCDC113_ENST00000443128.2_Splice_Site NM_014157.3 NP_054876.2 Q9H0I3 CC113_HUMAN coiled-coil domain containing 113 protein complex large_intestine(4)|lung(6)|ovary(1)|urinary_tract(1) 12 CCGCCGGAGGGTAAGTTGGCA 0.418000 17 24 0 0 0.028581 0 0 EDDM3B 64184 broad.mit.edu 37 14 21238446 21238446 + Missense_Mutation SNP G G C TCGA-DU-6400-01A-12D-1705-08 TCGA-DU-6400-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44fb8d94-aa0a-4da3-bf17-322889da1fb2 e2693558-ff23-4532-9d26-b6fe815e9934 g.chr14:21238446G>C ENST00000326783.3 + 2 235 c.137G>C c.(136-138)aGa>aCa p.R46T NM_022360.4 NP_071755.1 P56851 EP3B_HUMAN epididymal protein 3B 46 spermatid development extracellular region p.R46I(1) central_nervous_system(1)|kidney(1)|lung(3)|ovary(1)|skin(1) 7 CGAGAATTCAGAGAGTACAAA 0.393000 24 82 0 0 0.083992 0 0 GALNTL5 168391 broad.mit.edu 37 7 151711757 151711757 + Missense_Mutation SNP T T A TCGA-DU-6400-01A-12D-1705-08 TCGA-DU-6400-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44fb8d94-aa0a-4da3-bf17-322889da1fb2 e2693558-ff23-4532-9d26-b6fe815e9934 g.chr7:151711757T>A ENST00000392800.2 + 8 1309 c.1055T>A c.(1054-1056)aTa>aAa p.I352K GALNTL5_ENST00000431418.2_Missense_Mutation_p.I352K NM_145292.3 NP_660335.2 Q7Z4T8 GLTL5_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 5 352 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) CAACTCTTTATAATCCCCTGC 0.393000 44 64 0 0 0.048971 0 0 WAS 7454 broad.mit.edu 37 X 48542340 48542340 + Missense_Mutation SNP A A G TCGA-DU-6400-01A-12D-1705-08 TCGA-DU-6400-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44fb8d94-aa0a-4da3-bf17-322889da1fb2 e2693558-ff23-4532-9d26-b6fe815e9934 g.chrX:48542340A>G ENST00000376701.4 + 1 173 c.98A>G c.(97-99)cAg>cGg p.Q33R WAS_ENST00000483750.1_3'UTR NM_000377.2 NP_000368.1 P42768 WASP_HUMAN Wiskott-Aldrich syndrome 33 blood coagulation|defense response|epidermis development|immune response|T cell receptor signaling pathway actin cytoskeleton|cytosol identical protein binding|small GTPase regulator activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(4)|skin(1)|upper_aerodigestive_tract(1) 28 all_lung(315;1.27e-10) CACGAGAACCAGCGACTCTTT 0.622000 """Mis, N, F, S""" lymphoma 9 63 0 0 0.058154 0 0 FCRL3 115352 broad.mit.edu 37 1 157667654 157667654 + Silent SNP C C A TCGA-DU-6400-01A-12D-1705-08 TCGA-DU-6400-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44fb8d94-aa0a-4da3-bf17-322889da1fb2 e2693558-ff23-4532-9d26-b6fe815e9934 g.chr1:157667654C>A ENST00000368184.3 - 5 645 c.354G>T c.(352-354)ctG>ctT p.L118L FCRL3_ENST00000368186.5_Silent_p.L118L|FCRL3_ENST00000473231.1_5'UTR NM_052939.3 NP_443171.2 Q96P31 FCRL3_HUMAN Fc receptor-like 3 118 Ig-like C2-type 2. integral to membrane|plasma membrane receptor activity autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2) 69 all_hematologic(112;0.0378) CCTGACATCTCAGAATGACAT 0.423000 3 86 6.4e-05 6.67826e-05 0.004672 1 0 BAGE2 85319 broad.mit.edu 37 21 11058337 11058337 + RNA SNP A A G TCGA-DU-6400-01A-12D-1705-08 TCGA-DU-6400-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44fb8d94-aa0a-4da3-bf17-322889da1fb2 e2693558-ff23-4532-9d26-b6fe815e9934 g.chr21:11058337A>G ENST00000470054.1 - 0 324 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) AAAGGGGTAAAGGAGAGAAAT 0.368000 5 125 0 0 0.021553 0 0 LMOD2 442721 broad.mit.edu 37 7 123302491 123302491 + Missense_Mutation SNP G G A TCGA-DU-6400-01A-12D-1705-08 TCGA-DU-6400-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44fb8d94-aa0a-4da3-bf17-322889da1fb2 e2693558-ff23-4532-9d26-b6fe815e9934 g.chr7:123302491G>A ENST00000458573.2 + 2 1008 c.851G>A c.(850-852)gGg>gAg p.G284E LMOD2_ENST00000456238.2_Intron NM_207163.1 NP_997046.1 Q6P5Q4 LMOD2_HUMAN leiomodin 2 (cardiac) 284 cytoskeleton actin binding|tropomyosin binding ACGGGAAAGGGGATCCTGGCC 0.542000 7 90 0 0 0.038147 0 0 ABCA6 23460 broad.mit.edu 37 17 67080415 67080415 + Missense_Mutation SNP G G C TCGA-DU-6400-01A-12D-1705-08 TCGA-DU-6400-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44fb8d94-aa0a-4da3-bf17-322889da1fb2 e2693558-ff23-4532-9d26-b6fe815e9934 g.chr17:67080415G>C ENST00000284425.2 - 34 4516 c.4342C>G c.(4342-4344)Cag>Gag p.Q1448E ABCA6_ENST00000446604.2_5'UTR NM_080284.2 NP_525023.2 Q8N139 ABCA6_HUMAN ATP-binding cassette, sub-family A (ABC1), member 6 1448 ABC transporter 2. transport integral to membrane ATP binding|ATPase activity breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 82 Breast(10;5.65e-12) ATTTGCTGCTGCCCTGTGGGG 0.483000 3 49 0 0 0.004672 0 0 C10orf91 170393 broad.mit.edu 37 10 134259250 134259250 + Missense_Mutation SNP C C T rs112176383 TCGA-DU-6400-01A-12D-1705-08 TCGA-DU-6400-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44fb8d94-aa0a-4da3-bf17-322889da1fb2 e2693558-ff23-4532-9d26-b6fe815e9934 g.chr10:134259250C>T ENST00000392630.3 + 2 141 c.80C>T c.(79-81)aCg>aTg p.T27M C10orf91_ENST00000321248.2_Missense_Mutation_p.T27M|C10orf91_ENST00000490765.1_3'UTR NM_173541.2 NP_775812.1 Q5T1B1 CJ091_HUMAN chromosome 10 open reading frame 91 27 endometrium(1)|kidney(1)|lung(1)|ovary(2) 5 all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224) OV - Ovarian serous cystadenocarcinoma(35;6.95e-05)|Epithelial(32;0.000142)|all cancers(32;0.000162) GCTTGCTGGACGCATGACCAG 0.607000 40 57 0 0 0.045515 0 0 DNAH10 196385 broad.mit.edu 37 12 124408866 124408866 + Missense_Mutation SNP G G A TCGA-DU-6400-01A-12D-1705-08 TCGA-DU-6400-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44fb8d94-aa0a-4da3-bf17-322889da1fb2 e2693558-ff23-4532-9d26-b6fe815e9934 g.chr12:124408866G>A ENST00000409039.3 + 66 11324 c.11299G>A c.(11299-11301)Gct>Act p.A3767T CCDC92_ENST00000544798.1_Intron NM_207437.3 NP_997320.2 Q8IVF4 DYH10_HUMAN dynein, axonemal, heavy chain 10 3767 microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346) AAAGCCCTGCGCTTGGTTGTC 0.403000 14 21 0 0 0.024245 0 0 TACC1 6867 broad.mit.edu 37 8 38681524 38681524 + Missense_Mutation SNP A A G TCGA-DU-6400-01A-12D-1705-08 TCGA-DU-6400-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44fb8d94-aa0a-4da3-bf17-322889da1fb2 e2693558-ff23-4532-9d26-b6fe815e9934 g.chr8:38681524A>G ENST00000379931.3 + 4 1787 c.1408A>G c.(1408-1410)Aaa>Gaa p.K470E TACC1_ENST00000519416.1_Intron|TACC1_ENST00000520340.1_Intron|TACC1_ENST00000330691.6_Missense_Mutation_p.K32E|TACC1_ENST00000348567.4_Intron|TACC1_ENST00000520973.1_Intron|TACC1_ENST00000520615.1_Intron|TACC1_ENST00000520611.1_Intron|TACC1_ENST00000518415.1_Intron|TACC1_ENST00000317827.4_Intron|TACC1_ENST00000443286.2_Intron|TACC1_ENST00000522752.1_Intron|TACC1_ENST00000276520.8_Intron O75410 TACC1_HUMAN transforming, acidic coiled-coil containing protein 1 464 SPAZ 2. cell cycle|cell division intermediate filament cytoskeleton|microtubule organizing center|nucleus protein binding breast(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(3) 17 all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.065) LUSC - Lung squamous cell carcinoma(45;1.7e-09)|COAD - Colon adenocarcinoma(9;0.235) TGAACAAGTGAAATTTCTCTG 0.433000 37 79 0 0 0.086207 0 0 CBLB 868 broad.mit.edu 37 3 105495351 105495351 + Missense_Mutation SNP T T A TCGA-DU-6400-01A-12D-1705-08 TCGA-DU-6400-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44fb8d94-aa0a-4da3-bf17-322889da1fb2 e2693558-ff23-4532-9d26-b6fe815e9934 g.chr3:105495351T>A ENST00000264122.4 - 4 776 c.455A>T c.(454-456)cAc>cTc p.H152L CBLB_ENST00000403724.1_Missense_Mutation_p.H152L|CBLB_ENST00000394027.3_Missense_Mutation_p.H174L|CBLB_ENST00000545639.1_Intron|CBLB_ENST00000405772.1_Missense_Mutation_p.H152L NM_170662.3 NP_733762.2 Q13191 CBLB_HUMAN Cbl proto-oncogene B, E3 ubiquitin protein ligase 152 4H.|Cbl-PTB. cell surface receptor linked signaling pathway|NLS-bearing substrate import into nucleus cytoplasm|nucleus calcium ion binding|ligase activity|signal transducer activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2) 49 TGCCAGCATGTGACTGAAGAT 0.378000 Mis S AML 15 95 0 0 0.028581 0 0 ITIH6 347365 broad.mit.edu 37 X 54777700 54777700 + Missense_Mutation SNP T T C TCGA-DU-6400-01A-12D-1705-08 TCGA-DU-6400-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44fb8d94-aa0a-4da3-bf17-322889da1fb2 e2693558-ff23-4532-9d26-b6fe815e9934 g.chrX:54777700T>C ENST00000218436.6 - 12 3495 c.3466A>G c.(3466-3468)Act>Gct p.T1156A NM_198510.2 NP_940912.1 Q6UXX5 ITH5L_HUMAN inter-alpha-trypsin inhibitor heavy chain family, member 6 1156 hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity ATGGTGATAGTATAGGCCCGG 0.592000 24 25 0 0 0.076483 0 0 IGHV4OR15-8 0 broad.mit.edu 37 15 22473333 22473333 + RNA SNP A A G TCGA-DU-6400-01A-12D-1705-08 TCGA-DU-6400-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44fb8d94-aa0a-4da3-bf17-322889da1fb2 e2693558-ff23-4532-9d26-b6fe815e9934 g.chr15:22473333A>G ENST00000557788.2 - 0 20 CCAGGAGGAGAAAGAACCACA 0.512000 3 35 0 0 0.004672 0 0 DENND1A 57706 broad.mit.edu 37 9 126319963 126319963 + Silent SNP C C T TCGA-DU-6400-01A-12D-1705-08 TCGA-DU-6400-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44fb8d94-aa0a-4da3-bf17-322889da1fb2 e2693558-ff23-4532-9d26-b6fe815e9934 g.chr9:126319963C>T ENST00000373624.2 - 13 1080 c.879G>A c.(877-879)ctG>ctA p.L293L DENND1A_ENST00000373618.1_Silent_p.L261L|DENND1A_ENST00000373620.3_Silent_p.L293L|DENND1A_ENST00000473039.1_5'UTR|DENND1A_ENST00000394219.3_Silent_p.L261L|DENND1A_ENST00000394215.2_Silent_p.L263L|DENND1A_ENST00000542603.1_Intron NM_020946.1 NP_065997.1 Q8TEH3 DEN1A_HUMAN DENN/MADD domain containing 1A 293 cell junction|clathrin coated vesicle membrane|presynaptic membrane guanyl-nucleotide exchange factor activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|liver(2)|lung(18)|ovary(2)|prostate(1)|skin(1)|stomach(1) 43 GCCTGTTCTTCAGGGAAGAGA 0.537000 5 25 0 0 0.014758 0 0 MYH1 4619 broad.mit.edu 37 17 10404045 10404045 + Missense_Mutation SNP C C T rs142605633 TCGA-DU-6400-01A-12D-1705-08 TCGA-DU-6400-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44fb8d94-aa0a-4da3-bf17-322889da1fb2 e2693558-ff23-4532-9d26-b6fe815e9934 g.chr17:10404045C>T ENST00000226207.5 - 28 3857 c.3763G>A c.(3763-3765)Gct>Act p.A1255T CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA NM_005963.3 NP_005954.3 P12882 MYH1_HUMAN myosin, heavy chain 1, skeletal muscle, adult 1255 muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity p.A1255T(1) NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5) 176 TCTTCTAGAGCGCGGCACATC 0.453000 16 57 0 0 0.028581 0 0 DSPP 1834 broad.mit.edu 37 4 88534157 88534157 + Silent SNP T T C TCGA-DU-6400-01A-12D-1705-08 TCGA-DU-6400-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44fb8d94-aa0a-4da3-bf17-322889da1fb2 e2693558-ff23-4532-9d26-b6fe815e9934 g.chr4:88534157T>C ENST00000399271.1 + 4 939 c.819T>C c.(817-819)agT>agC p.S273S DSPP_ENST00000282478.7_Silent_p.S273S|RP11-742B18.1_ENST00000506480.1_RNA NM_014208.3 NP_055023.2 Q9NZW4 DSPP_HUMAN dentin sialophosphoprotein 273 biomineral tissue development|ossification|skeletal system development proteinaceous extracellular matrix calcium ion binding|collagen binding|extracellular matrix structural constituent breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 47 Hepatocellular(203;0.114)|all_hematologic(202;0.236) OV - Ovarian serous cystadenocarcinoma(123;0.000508) GAAAAGACAGTAGTAATAACA 0.438000 22 24 0 0 0.055883 0 0 METTL25 84190 broad.mit.edu 37 12 82828486 82828486 + Missense_Mutation SNP G G A TCGA-DU-6400-01A-12D-1705-08 TCGA-DU-6400-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44fb8d94-aa0a-4da3-bf17-322889da1fb2 e2693558-ff23-4532-9d26-b6fe815e9934 g.chr12:82828486G>A ENST00000248306.3 + 7 1456 c.1387G>A c.(1387-1389)Gtt>Att p.V463I METTL25_ENST00000547357.1_3'UTR NM_032230.2 NP_115606.2 methyltransferase like 25 ATTGGAGCGGGTTGCAGCTGG 0.373000 28 54 0 0 0.034045 0 0 SF3B3 23450 broad.mit.edu 37 16 70601345 70601345 + Missense_Mutation SNP C C T TCGA-DU-6400-01A-12D-1705-08 TCGA-DU-6400-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44fb8d94-aa0a-4da3-bf17-322889da1fb2 e2693558-ff23-4532-9d26-b6fe815e9934 g.chr16:70601345C>T ENST00000302516.5 + 21 3069 c.2858C>T c.(2857-2859)gCc>gTc p.A953V NM_012426.4 NP_036558.3 Q15393 SF3B3_HUMAN splicing factor 3b, subunit 3, 130kDa 953 protein complex assembly catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex nucleic acid binding|protein binding p.A953V(1) breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 53 Ovarian(137;0.0694) GCTGCTATTGCCCCATTCCAG 0.493000 3 80 0 0 0.004672 0 0 ZW10 9183 broad.mit.edu 37 11 113639586 113639586 + Missense_Mutation SNP A A G TCGA-DU-6400-01A-12D-1705-08 TCGA-DU-6400-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44fb8d94-aa0a-4da3-bf17-322889da1fb2 e2693558-ff23-4532-9d26-b6fe815e9934 g.chr11:113639586A>G ENST00000200135.3 - 2 353 c.209T>C c.(208-210)aTt>aCt p.I70T NM_004724.3 NP_004715.1 O43264 ZW10_HUMAN zw10 kinetochore protein 70 Interaction with RINT1.|Interaction with ZWINT. cell division|ER to Golgi vesicle-mediated transport|establishment of mitotic spindle orientation|meiosis|mitotic cell cycle checkpoint|mitotic metaphase plate congression|mitotic prometaphase|protein complex assembly|protein localization to kinetochore|protein transport|regulation of exit from mitosis condensed chromosome kinetochore|cytosol|endoplasmic reticulum membrane|kinetochore microtubule|nucleus|spindle pole centromeric DNA binding|protein binding central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1) 18 all_cancers(61;3.84e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000237)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425) BRCA - Breast invasive adenocarcinoma(274;2.94e-06)|Epithelial(105;0.000103)|all cancers(92;0.000786) CAGCAGGTCAATGTCTTCAGA 0.463000 21 90 0 0 0.055883 0 0 ANKRD30BP2 0 broad.mit.edu 37 21 14414902 14414902 + RNA SNP G G A rs2821609 by1000genomes TCGA-DU-6400-01A-12D-1705-08 TCGA-DU-6400-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44fb8d94-aa0a-4da3-bf17-322889da1fb2 e2693558-ff23-4532-9d26-b6fe815e9934 g.chr21:14414902G>A ENST00000507941.1 + 0 95 CCAGCTTGACGTCCTTGATGG 0.443000 3 18 0 0 0.009096 0 0 ZNF292 23036 broad.mit.edu 37 6 87967233 87967233 + Frame_Shift_Del DEL C C - TCGA-DU-6400-01A-12D-1705-08 TCGA-DU-6400-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44fb8d94-aa0a-4da3-bf17-322889da1fb2 e2693558-ff23-4532-9d26-b6fe815e9934 g.chr6:87967233delC ENST00000369577.3 + 8 3929 c.3886delC c.(3886-3888)atfs p.H1296fs ZNF292_ENST00000339907.4_Frame_Shift_Del_p.H1291fs NM_015021.1 NP_055836.1 O60281 ZN292_HUMAN zinc finger protein 292 1296 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 89 all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05) BRCA - Breast invasive adenocarcinoma(108;0.0199) TAATACAAATCATTATTCCTC 0.378 8 11 --- --- --- --- CIC 23152 broad.mit.edu 37 19 42793381 42793381 + Frame_Shift_Del DEL T T - TCGA-DU-6400-01A-12D-1705-08 TCGA-DU-6400-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44fb8d94-aa0a-4da3-bf17-322889da1fb2 e2693558-ff23-4532-9d26-b6fe815e9934 g.chr19:42793381delT ENST00000572681.2 + 9 3978 c.3910delT c.(3910-3912)atfs p.Y1304fs CIC_ENST00000575354.2_Frame_Shift_Del_p.Y395fs|CIC_ENST00000160740.3_Frame_Shift_Del_p.Y395fs Q96RK0 CIC_HUMAN capicua transcriptional repressor 395 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 82 Prostate(69;0.00682) TTCTACCCAGTATGGAGCTCC 0.657 """Mis, F, S""" oligodendroglioma 37 26 --- --- --- --- LILRB5 0 broad.mit.edu 37 19 54754838 54754839 + Frame_Shift_Ins INS - - G rs11375503 TCGA-DU-6400-01A-12D-1705-08 TCGA-DU-6400-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44fb8d94-aa0a-4da3-bf17-322889da1fb2 e2693558-ff23-4532-9d26-b6fe815e9934 g.chr19:54754838_54754839insG ENST00000450632.1 - 13 1873_1874 c.1796_1797insC c.(1795-1797)cccfs p.P599fs LILRB5_ENST00000316219.5_Intron|LILRB5_ENST00000449561.2_Intron|LILRB5_ENST00000345866.6_Intron O75023 LIRB5_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5 424 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) GTGGTGGGGGTGGGGAGGCCTG 0.604 5 1 --- --- --- --- NUDT11 0 broad.mit.edu 37 X 51239296 51239309 + Translation_Start_Site DEL TCCTCGAGGCAGCC TCCTCGAGGCAGCC - rs78182391 TCGA-DU-6400-01A-12D-1705-08 TCGA-DU-6400-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44fb8d94-aa0a-4da3-bf17-322889da1fb2 e2693558-ff23-4532-9d26-b6fe815e9934 g.chrX:51239296_51239309delTCCTCGAGGCAGCC ENST00000375992.3 - 0 139_152 NM_018159.3 NP_060629.2 Q96G61 NUD11_HUMAN nudix (nucleoside diphosphate linked moiety X)-type motif 11 cytoplasm diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding p.?(5) breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2) 9 Ovarian(276;0.236) TTGCACTTCATCCTCGAGGCAGCCTCCTCGAGGC 0.692 HNSCC(48;0.14) 4 6 --- --- --- --- FTX 0 broad.mit.edu 37 X 73506653 73506654 + RNA INS - - A rs149262205 TCGA-DU-6400-01A-12D-1705-08 TCGA-DU-6400-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44fb8d94-aa0a-4da3-bf17-322889da1fb2 e2693558-ff23-4532-9d26-b6fe815e9934 g.chrX:73506653_73506654insA ENST00000429124.1 - 0 174 acctgtcccttaaaaaaaaaaa 0.455 2 4 --- --- --- --- TBC1D8B 54885 broad.mit.edu 37 X 106046201 106046201 + Frame_Shift_Del DEL G G - TCGA-DU-6400-01A-12D-1705-08 TCGA-DU-6400-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44fb8d94-aa0a-4da3-bf17-322889da1fb2 e2693558-ff23-4532-9d26-b6fe815e9934 g.chrX:106046201delG ENST00000357242.5 + 1 292 c.118delG c.(118-120)ggfs p.G41fs TBC1D8B_ENST00000310452.2_Frame_Shift_Del_p.G41fs|TBC1D8B_ENST00000276175.3_Frame_Shift_Del_p.G41fs|TBC1D8B_ENST00000481617.2_Frame_Shift_Del_p.G41fs NM_017752.2 NP_060222.2 Q0IIM8 TBC8B_HUMAN TBC1 domain family, member 8B (with GRAM domain) 41 intracellular calcium ion binding|Rab GTPase activator activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 47 GGAAGGCGGAGGGGGGCTCAC 0.577 15 23 --- --- --- ---