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 CDR2 1039 broad.mit.edu 37 16 22361098 22361098 + Missense_Mutation SNP C C T TCGA-FG-A87N-01A-11D-A36O-08 TCGA-FG-A87N-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 031a2d19-942c-4c6d-afbe-b6135c7ea704 d87821a1-0286-4e2e-ab6a-5b94ddecf27e g.chr16:22361098C>T ENST00000268383.2 - 3 572 c.265G>A c.(265-267)Gtc>Atc p.V89I NM_001802.1 NP_001793.1 Q01850 CDR2_HUMAN cerebellar degeneration-related protein 2, 62kDa 89 nucleus protein binding endometrium(3)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1) 11 GBM - Glioblastoma multiforme(48;0.0188) CTTGCTGTGACGTCTAATTGT 0.423000 17 219 0 0 1 0 0 CENPF 1063 broad.mit.edu 37 1 214818125 214818125 + Nonsense_Mutation SNP A A T TCGA-FG-A87N-01A-11D-A36O-08 TCGA-FG-A87N-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 031a2d19-942c-4c6d-afbe-b6135c7ea704 d87821a1-0286-4e2e-ab6a-5b94ddecf27e g.chr1:214818125A>T ENST00000366955.3 + 13 5380 c.5212A>T c.(5212-5214)Aaa>Taa p.K1738* NM_016343.3 NP_057427.3 P49454 CENPF_HUMAN centromere protein F, 350/400kDa 1834 cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1) 126 all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833) AGGGGAAGATAAAACCCAGGG 0.448000 21 32 0 0 1 0 0 UTP23 84294 broad.mit.edu 37 8 117778967 117778967 + Missense_Mutation SNP G G A TCGA-FG-A87N-01A-11D-A36O-08 TCGA-FG-A87N-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 031a2d19-942c-4c6d-afbe-b6135c7ea704 d87821a1-0286-4e2e-ab6a-5b94ddecf27e g.chr8:117778967G>A ENST00000309822.2 + 1 226 c.125G>A c.(124-126)cGc>cAc p.R42H UTP23_ENST00000357148.3_Missense_Mutation_p.R42H|UTP23_ENST00000517820.1_Missense_Mutation_p.R42H NM_032334.2 NP_115710.2 Q9BRU9 UTP23_HUMAN UTP23, small subunit (SSU) processome component, homolog (yeast) 42 rRNA processing nucleolus breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1) 12 CTGCGGGGCCGCATCCAGCTG 0.677000 OREG0018934 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 21 0 0 1 0 0 ANKRD20A8P 0 broad.mit.edu 37 2 95522786 95522786 + RNA SNP T T C TCGA-FG-A87N-01A-11D-A36O-08 TCGA-FG-A87N-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 031a2d19-942c-4c6d-afbe-b6135c7ea704 d87821a1-0286-4e2e-ab6a-5b94ddecf27e g.chr2:95522786T>C ENST00000432432.2 - 0 241 NR_040113.1 p.K44K(1) CGGCGTCGCCTTTGACAGCTG 0.687000 3 55 0 0 1 0 0 MT4 84560 broad.mit.edu 37 16 56602775 56602775 + Silent SNP G G A TCGA-FG-A87N-01A-11D-A36O-08 TCGA-FG-A87N-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 031a2d19-942c-4c6d-afbe-b6135c7ea704 d87821a1-0286-4e2e-ab6a-5b94ddecf27e g.chr16:56602775G>A ENST00000219162.3 + 3 200 c.120G>A c.(118-120)ccG>ccA p.P40P NM_032935.2 NP_116324.1 P47944 MT4_HUMAN metallothionein 4 40 cytoplasm copper ion binding|zinc ion binding ovary(1)|upper_aerodigestive_tract(1) 2 GCTGCCCCCCGGGCTGTGCCA 0.607000 104 134 0 0 1 0 0 CDK11B 984 broad.mit.edu 37 1 1573136 1573136 + Silent SNP G G A rs17434073 TCGA-FG-A87N-01A-11D-A36O-08 TCGA-FG-A87N-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 031a2d19-942c-4c6d-afbe-b6135c7ea704 d87821a1-0286-4e2e-ab6a-5b94ddecf27e g.chr1:1573136G>A ENST00000407249.3 - 14 1460 c.1461C>T c.(1459-1461)atC>atT p.I487I CDK11B_ENST00000340677.5_Silent_p.I474I|CDK11B_ENST00000341832.6_Silent_p.I440I|CDK11B_ENST00000317673.7_Silent_p.I485I P21127 CD11B_HUMAN cyclin-dependent kinase 11B 497 Protein kinase. apoptosis|cell proliferation|mitosis|regulation of cell growth|regulation of mRNA processing|regulation of transcription, DNA-dependent cytoplasm|nucleus ATP binding|cyclin-dependent protein kinase activity|protein binding endometrium(2)|large_intestine(3)|lung(4)|skin(1)|stomach(2) 12 TAACGGTGACGATGTTGGGAT 0.617000 4 186 0 0 1 0 0 PDZK1 5174 broad.mit.edu 37 1 145761247 145761247 + Missense_Mutation SNP G G A TCGA-FG-A87N-01A-11D-A36O-08 TCGA-FG-A87N-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 031a2d19-942c-4c6d-afbe-b6135c7ea704 d87821a1-0286-4e2e-ab6a-5b94ddecf27e g.chr1:145761247G>A ENST00000344770.2 + 7 1133 c.1060G>A c.(1060-1062)Gct>Act p.A354T PDZK1_ENST00000451928.2_Missense_Mutation_p.A243T|PDZK1_ENST00000417171.1_Missense_Mutation_p.A354T NM_002614.4 NP_002605.2 Q5T2W1 NHRF3_HUMAN PDZ domain containing 1 354 carnitine transport|cell proliferation|drug transport|positive regulation of ion transmembrane transport brush border membrane|cytoplasm PDZ domain binding|transporter activity p.A354T(1) NS(1)|endometrium(1)|large_intestine(1)|lung(3)|pancreas(1) 7 all_hematologic(18;0.00473)|Acute lymphoblastic leukemia(18;0.0786) KIRC - Kidney renal clear cell carcinoma(6;0.0764)|Kidney(552;0.118)|Colorectal(543;0.229) GGAGGCTCCAGCTCCTACTCC 0.428000 38 43 0 0 1 0 0 KLHL8 57563 broad.mit.edu 37 4 88106791 88106791 + Missense_Mutation SNP T T C TCGA-FG-A87N-01A-11D-A36O-08 TCGA-FG-A87N-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 031a2d19-942c-4c6d-afbe-b6135c7ea704 d87821a1-0286-4e2e-ab6a-5b94ddecf27e g.chr4:88106791T>C ENST00000273963.5 - 3 718 c.377A>G c.(376-378)tAt>tGt p.Y126C KLHL8_ENST00000512111.1_Missense_Mutation_p.Y126C|KLHL8_ENST00000498875.2_Intron|KLHL8_ENST00000545252.1_Intron|KLHL8_ENST00000425278.2_Intron NM_020803.3 NP_065854.3 Q9P2G9 KLHL8_HUMAN kelch-like family member 8 126 BTB. breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|stomach(1)|upper_aerodigestive_tract(1) 17 Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242) OV - Ovarian serous cystadenocarcinoma(123;0.000603) CCGTGAAGAATAGACAAACTT 0.423000 35 46 0 0 1 0 0 KRTAP1-5 83895 broad.mit.edu 37 17 39183145 39183145 + Missense_Mutation SNP A A G TCGA-FG-A87N-01A-11D-A36O-08 TCGA-FG-A87N-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 031a2d19-942c-4c6d-afbe-b6135c7ea704 d87821a1-0286-4e2e-ab6a-5b94ddecf27e g.chr17:39183145A>G ENST00000361883.5 - 1 309 c.263T>C c.(262-264)aTc>aCc p.I88T NM_031957.1 NP_114163.1 Q9BYS1 KRA15_HUMAN keratin associated protein 1-5 88 15 X 5 AA repeats of C-C-[QEPVRC]- [TPIVLE]-[SRHVP]. keratin filament p.I88T(11) central_nervous_system(1)|endometrium(2)|kidney(1)|lung(9)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2) 17 Breast(137;0.00043) STAD - Stomach adenocarcinoma(17;0.000371) GCAGGAGCTGATCTGGCAGCA 0.632000 5 62 0 0 1 0 0 EP400 57634 broad.mit.edu 37 12 132547087 132547087 + Silent SNP G G A rs12366766 TCGA-FG-A87N-01A-11D-A36O-08 TCGA-FG-A87N-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 031a2d19-942c-4c6d-afbe-b6135c7ea704 d87821a1-0286-4e2e-ab6a-5b94ddecf27e 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_ENST00000332482.4_Silent_p.Q2688Q|EP400_ENST00000389562.2_Silent_p.Q2724Q|EP400_ENST00000389561.2_Silent_p.Q2725Q 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 55 0 0 1 0 0 LL22NC03-80A10.6 0 broad.mit.edu 37 22 22664186 22664186 + RNA SNP A A G TCGA-FG-A87N-01A-11D-A36O-08 TCGA-FG-A87N-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 031a2d19-942c-4c6d-afbe-b6135c7ea704 d87821a1-0286-4e2e-ab6a-5b94ddecf27e g.chr22:22664186A>G ENST00000426066.1 + 0 709 NR_027293.1 CAGATCAAGAAAGCACTCTGA 0.498000 3 73 0 0 1 0 0 CPSF1 29894 broad.mit.edu 37 8 145626338 145626338 + Silent SNP G G A TCGA-FG-A87N-01A-11D-A36O-08 TCGA-FG-A87N-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 031a2d19-942c-4c6d-afbe-b6135c7ea704 d87821a1-0286-4e2e-ab6a-5b94ddecf27e g.chr8:145626338G>A ENST00000349769.3 - 6 613 c.519C>T c.(517-519)caC>caT p.H173H NM_013291.2 NP_037423.2 Q10570 CPSF1_HUMAN cleavage and polyadenylation specific factor 1, 160kDa 173 mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription mRNA cleavage and polyadenylation specificity factor complex mRNA 3'-UTR binding|protein binding NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 all_cancers(97;6.64e-12)|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;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055) CGAGCCCCTCGTGCTCCTCAG 0.721000 9 13 0 0 1 0 0 DISP1 84976 broad.mit.edu 37 1 223179138 223179138 + Missense_Mutation SNP T T G TCGA-FG-A87N-01A-11D-A36O-08 TCGA-FG-A87N-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 031a2d19-942c-4c6d-afbe-b6135c7ea704 d87821a1-0286-4e2e-ab6a-5b94ddecf27e g.chr1:223179138T>G ENST00000284476.6 + 8 4563 c.4399T>G c.(4399-4401)Tta>Gta p.L1467V NM_032890.3 NP_116279.2 Q96F81 DISP1_HUMAN dispatched homolog 1 (Drosophila) 1467 diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway basolateral plasma membrane|integral to membrane hedgehog receptor activity|peptide transporter activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5) 69 GBM - Glioblastoma multiforme(131;0.102) ATTTAATCATTTAATGGGGGA 0.433000 20 40 0 0 1 0 0 FRMD6 122786 broad.mit.edu 37 14 52188776 52188776 + Silent SNP G G A TCGA-FG-A87N-01A-11D-A36O-08 TCGA-FG-A87N-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 031a2d19-942c-4c6d-afbe-b6135c7ea704 d87821a1-0286-4e2e-ab6a-5b94ddecf27e g.chr14:52188776G>A ENST00000395718.2 + 12 1731 c.1446G>A c.(1444-1446)tcG>tcA p.S482S FRMD6_ENST00000553556.1_Silent_p.S132S|FRMD6_ENST00000554167.1_Silent_p.S413S|FRMD6_ENST00000344768.5_Silent_p.S490S|FRMD6_ENST00000356218.4_Silent_p.S482S NM_001267046.1|NM_152330.3 NP_001253975.1|NP_689543.1 Q96NE9 FRMD6_HUMAN FERM domain containing 6 490 cytoskeleton|mitochondrion|plasma membrane binding breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 all_epithelial(31;0.0163)|Breast(41;0.089) TGCTCATGTCGCGGAAGCTGA 0.483000 41 35 0 0 1 0 0 KIFC3 3801 broad.mit.edu 37 16 57798074 57798074 + Missense_Mutation SNP C C T TCGA-FG-A87N-01A-11D-A36O-08 TCGA-FG-A87N-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 031a2d19-942c-4c6d-afbe-b6135c7ea704 d87821a1-0286-4e2e-ab6a-5b94ddecf27e g.chr16:57798074C>T ENST00000379655.4 - 12 1855 c.1598G>A c.(1597-1599)gGc>gAc p.G533D KIFC3_ENST00000540079.2_Missense_Mutation_p.G431D|KIFC3_ENST00000539578.1_Missense_Mutation_p.G475D|KIFC3_ENST00000562903.1_Missense_Mutation_p.G394D|KIFC3_ENST00000465878.2_Missense_Mutation_p.G394D|KIFC3_ENST00000543930.1_Missense_Mutation_p.G391D|KIFC3_ENST00000445690.2_Missense_Mutation_p.G533D|KIFC3_ENST00000541240.1_Missense_Mutation_p.G555D|KIFC3_ENST00000421376.2_Missense_Mutation_p.G394D NM_005550.3 NP_005541.3 Q9BVG8 KIFC3_HUMAN kinesin family member C3 533 Kinesin-motor. epithelial cell-cell adhesion|microtubule-based movement|visual perception|zonula adherens maintenance centrosome|cytoplasmic vesicle membrane|kinesin complex|microtubule|zonula adherens ATP binding|microtubule motor activity breast(2)|central_nervous_system(3)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 23 all_neural(199;0.224) GTACGTCTTGCCGGCGCCCGT 0.597000 3 49 0 0 1 0 0 UBR4 23352 broad.mit.edu 37 1 19439194 19439194 + Silent SNP G G A rs148095267 byFrequency TCGA-FG-A87N-01A-11D-A36O-08 TCGA-FG-A87N-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 031a2d19-942c-4c6d-afbe-b6135c7ea704 d87821a1-0286-4e2e-ab6a-5b94ddecf27e g.chr1:19439194G>A ENST00000375267.2 - 78 11628 c.11625C>T c.(11623-11625)tgC>tgT p.C3875C UBR4_ENST00000375254.3_Silent_p.C3875C|UBR4_ENST00000375217.2_Silent_p.C3868C|UBR4_ENST00000375226.2_Silent_p.C3851C|UBR4_ENST00000375218.3_3'UTR Q5T4S7 UBR4_HUMAN ubiquitin protein ligase E3 component n-recognin 4 3875 interspecies interaction between organisms cytoplasm|cytoskeleton|integral to membrane|nucleus calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6) 171 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256) UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816) CAGCCGAGGCGCAGCCATAGC 0.612000 8 172 0 0 1 0 0 TDRD1 56165 broad.mit.edu 37 10 115964540 115964540 + Silent SNP T T C TCGA-FG-A87N-01A-11D-A36O-08 TCGA-FG-A87N-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 031a2d19-942c-4c6d-afbe-b6135c7ea704 d87821a1-0286-4e2e-ab6a-5b94ddecf27e g.chr10:115964540T>C ENST00000251864.2 + 10 1338 c.1185T>C c.(1183-1185)tgT>tgC p.C395C TDRD1_ENST00000369281.2_Silent_p.C395C|TDRD1_ENST00000369280.1_Silent_p.C395C|TDRD1_ENST00000369282.1_Silent_p.C395C|TDRD1_ENST00000422662.1_Silent_p.C56C NM_198795.1 NP_942090.1 Q9BXT4 TDRD1_HUMAN tudor domain containing 1 395 DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis pi-body nucleic acid binding|protein binding|zinc ion binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5) 48 Colorectal(252;0.172)|Breast(234;0.188) Epithelial(162;0.0343)|all cancers(201;0.0754) GCAGTGATTGTATCAAAGCTA 0.398000 25 10 0 0 1 0 0 CHEK2 11200 broad.mit.edu 37 22 29091841 29091841 + Silent SNP G G A rs146546850 byFrequency TCGA-FG-A87N-01A-11D-A36O-08 TCGA-FG-A87N-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 031a2d19-942c-4c6d-afbe-b6135c7ea704 d87821a1-0286-4e2e-ab6a-5b94ddecf27e g.chr22:29091841G>A ENST00000544772.1 - 12 1889 c.453C>T c.(451-453)tcC>tcT p.S151S CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000403642.1_Silent_p.S281S|CHEK2_ENST00000382580.2_Silent_p.S415S|CHEK2_ENST00000404276.1_Silent_p.S372S|CHEK2_ENST00000382578.1_Silent_p.S281S|CHEK2_ENST00000328354.6_Silent_p.S372S|CHEK2_ENST00000402731.1_Silent_p.S343S|CHEK2_ENST00000348295.3_Silent_p.S343S|CHEK2_ENST00000405598.1_Silent_p.S372S|CHEK2_ENST00000382565.1_Intron NM_001257387.1 NP_001244316.1 O96017 CHK2_HUMAN checkpoint kinase 2 372 FHA. cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence PML body ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity p.S372S(8) central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2) 50 CCAAAATCTTGGAGTGCCCAA 0.413000 F breast Direct reversal of damage;Other conserved DNA damage response genes 4 72 0 0 1 0 0 AAGAB 79719 broad.mit.edu 37 15 67529108 67529108 + Missense_Mutation SNP C C T TCGA-FG-A87N-01A-11D-A36O-08 TCGA-FG-A87N-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 031a2d19-942c-4c6d-afbe-b6135c7ea704 d87821a1-0286-4e2e-ab6a-5b94ddecf27e g.chr15:67529108C>T ENST00000261880.5 - 2 228 c.124G>A c.(124-126)Gtg>Atg p.V42M AAGAB_ENST00000542650.1_De_novo_Start_InFrame|AAGAB_ENST00000561452.1_De_novo_Start_InFrame NM_001271885.1|NM_001271886.1|NM_024666.3 NP_001258814.1|NP_001258815.1|NP_078942.3 Q6PD74 AAGAB_HUMAN alpha- and gamma-adaptin binding protein 42 protein transport cytoplasm breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1) 9 TAAAATCTCACAGCATCATTG 0.343000 15 30 0 0 1 0 0 ZNF485 220992 broad.mit.edu 37 10 44112341 44112341 + Missense_Mutation SNP A A G TCGA-FG-A87N-01A-11D-A36O-08 TCGA-FG-A87N-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 031a2d19-942c-4c6d-afbe-b6135c7ea704 d87821a1-0286-4e2e-ab6a-5b94ddecf27e g.chr10:44112341A>G ENST00000361807.3 + 5 1044 c.850A>G c.(850-852)Act>Gct p.T284A ZNF485_ENST00000374435.3_Missense_Mutation_p.T284A|ZNF485_ENST00000374437.2_Missense_Mutation_p.T193A NM_145312.3 NP_660355.2 Q8NCK3 ZN485_HUMAN zinc finger protein 485 284 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1) 16 GGATAATTCAACTGTGTTGGA 0.403000 22 37 0 0 1 0 0 IDH1 3417 broad.mit.edu 37 2 209113112 209113112 + Missense_Mutation SNP C C T rs121913500 TCGA-FG-A87N-01A-11D-A36O-08 TCGA-FG-A87N-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 031a2d19-942c-4c6d-afbe-b6135c7ea704 d87821a1-0286-4e2e-ab6a-5b94ddecf27e g.chr2:209113112C>T ENST00000415913.1 - 4 776 c.395G>A c.(394-396)cGt>cAt p.R132H IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_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 33 64 0 0 1 0 0 HELB 92797 broad.mit.edu 37 12 66703572 66703572 + Silent SNP T T A TCGA-FG-A87N-01A-11D-A36O-08 TCGA-FG-A87N-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 031a2d19-942c-4c6d-afbe-b6135c7ea704 d87821a1-0286-4e2e-ab6a-5b94ddecf27e g.chr12:66703572T>A ENST00000247815.4 + 4 923 c.864T>A c.(862-864)acT>acA p.T288T NM_033647.3 NP_387467.2 Q8NG08 HELB_HUMAN helicase (DNA) B 288 DNA replication, synthesis of RNA primer ATP binding|ATP-dependent 5'-3' DNA helicase activity|single-stranded DNA-dependent ATP-dependent DNA helicase activity autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1) 40 GBM - Glioblastoma multiforme(2;0.000142) GBM - Glioblastoma multiforme(28;0.0265) AGCTGATGACTGATTTGGAGA 0.383000 49 61 0 0 1 0 0 RP11-156P1.3 0 broad.mit.edu 37 17 45128812 45128812 + RNA SNP C C T TCGA-FG-A87N-01A-11D-A36O-08 TCGA-FG-A87N-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 031a2d19-942c-4c6d-afbe-b6135c7ea704 d87821a1-0286-4e2e-ab6a-5b94ddecf27e g.chr17:45128812C>T ENST00000575173.1 - 0 418 AGTCCTGTTTCTGTGTGGATT 0.373000 4 71 0 0 1 0 0 CUL4B 8450 broad.mit.edu 37 X 119673128 119673128 + Missense_Mutation SNP A A G TCGA-FG-A87N-01A-11D-A36O-08 TCGA-FG-A87N-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 031a2d19-942c-4c6d-afbe-b6135c7ea704 d87821a1-0286-4e2e-ab6a-5b94ddecf27e g.chrX:119673128A>G ENST00000371322.5 - 12 1797 c.1736T>C c.(1735-1737)aTc>aCc p.I579T CUL4B_ENST00000336592.6_Missense_Mutation_p.I584T|CUL4B_ENST00000404115.3_Missense_Mutation_p.I597T NM_001079872.1 NP_001073341.1 Q13620 CUL4B_HUMAN cullin 4B 597 cell cycle|DNA repair|ubiquitin-dependent protein catabolic process Cul4B-RING ubiquitin ligase complex|nucleus protein binding|ubiquitin protein ligase binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 CTTACCATAGATAAATCTAAA 0.289000 17 24 0 0 1 0 0 SYT4 6860 broad.mit.edu 37 18 40850545 40850545 + Missense_Mutation SNP T T C TCGA-FG-A87N-01A-11D-A36O-08 TCGA-FG-A87N-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 031a2d19-942c-4c6d-afbe-b6135c7ea704 d87821a1-0286-4e2e-ab6a-5b94ddecf27e g.chr18:40850545T>C ENST00000255224.3 - 4 1407 c.1039A>G c.(1039-1041)Aaa>Gaa p.K347E SYT4_ENST00000586678.1_Intron|SYT4_ENST00000590752.1_Missense_Mutation_p.K329E NM_020783.3 NP_065834.1 Q9H2B2 SYT4_HUMAN synaptotagmin IV 347 C2 2. cell junction|integral to membrane|synaptic vesicle membrane transporter activity breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|skin(6)|stomach(1)|upper_aerodigestive_tract(2) 44 GGGGTGCATTTCTTCACATGA 0.408000 56 60 0 0 1 0 0 NF1 4763 broad.mit.edu 37 17 29654516 29654516 + Splice_Site SNP G G C TCGA-FG-A87N-01A-11D-A36O-08 TCGA-FG-A87N-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 031a2d19-942c-4c6d-afbe-b6135c7ea704 d87821a1-0286-4e2e-ab6a-5b94ddecf27e g.chr17:29654516G>C ENST00000358273.4 + 38 5651 c.e38-1 NF1_ENST00000356175.3_Splice_Site|NF1_ENST00000581113.2_Splice_Site NM_001042492.2 NP_001035957.1 P21359 NF1_HUMAN neurofibromin 1 actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus protein binding|Ras GTPase activator activity p.0?(8)|p.?(3) NF1/ACCN1(2) autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9) 599 all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659) UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146) CCACTTTCCAGGTTGGTTCTA 0.398000 """D, Mis, N, F, S, O""" """neurofibroma, glioma""" """neurofibroma, glioma""" Neurofibromatosis, type 1 TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088) 44 2 0 0 1 0 0 FAM160A2 84067 broad.mit.edu 37 11 6233023 6233023 + Missense_Mutation SNP C C T TCGA-FG-A87N-01A-11D-A36O-08 TCGA-FG-A87N-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 031a2d19-942c-4c6d-afbe-b6135c7ea704 d87821a1-0286-4e2e-ab6a-5b94ddecf27e g.chr11:6233023C>T ENST00000265978.4 - 12 3032 c.2674G>A c.(2674-2676)Gca>Aca p.A892T FAM160A2_ENST00000449352.2_Missense_Mutation_p.A878T|FAM160A2_ENST00000529360.1_5'UTR NM_001098794.1|NM_032127.3 NP_001092264.1|NP_115503.2 Q8N612 F16A2_HUMAN family with sequence similarity 160, member A2 878 early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|protein transport FHF complex protein binding p.A892T(1) NS(1)|endometrium(3)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 ACCAATTGTGCCGCCTGCCGG 0.627000 4 151 0 0 1 0 0 OSBPL2 9885 broad.mit.edu 37 20 60854344 60854344 + Missense_Mutation SNP G G A TCGA-FG-A87N-01A-11D-A36O-08 TCGA-FG-A87N-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 031a2d19-942c-4c6d-afbe-b6135c7ea704 d87821a1-0286-4e2e-ab6a-5b94ddecf27e g.chr20:60854344G>A ENST00000313733.3 + 7 825 c.623G>A c.(622-624)gGc>gAc p.G208D OSBPL2_ENST00000358053.2_Missense_Mutation_p.G196D|OSBPL2_ENST00000439951.2_Missense_Mutation_p.G116D NM_144498.1 NP_653081.1 Q9H1P3 OSBL2_HUMAN oxysterol binding protein-like 2 208 lipid transport lipid binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 17 Breast(26;7.76e-09) BRCA - Breast invasive adenocarcinoma(19;1.33e-06) AAGTTCTGGGGCAAAAGCGTG 0.587000 3 45 0 0 1 0 0 NCOR1 9611 broad.mit.edu 37 17 15971338 15971338 + Silent SNP C C T TCGA-FG-A87N-01A-11D-A36O-08 TCGA-FG-A87N-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 031a2d19-942c-4c6d-afbe-b6135c7ea704 d87821a1-0286-4e2e-ab6a-5b94ddecf27e g.chr17:15971338C>T ENST00000268712.3 - 32 4868 c.4611G>A c.(4609-4611)ggG>ggA p.G1537G NCOR1_ENST00000395857.3_Silent_p.G121G|NCOR1_ENST00000395851.1_Silent_p.G1553G NM_006311.3 NP_006302.2 O75376 NCOR1_HUMAN nuclear receptor corepressor 1 1537 Interaction with C1D (By similarity).|Interaction with ETO. cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter nuclear chromatin|spindle microtubule|transcriptional repressor complex histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10) 107 UCEC - Uterine corpus endometrioid carcinoma (92;0.101) CAGGGTCCACCCCAGGCACTG 0.542000 22 36 0 0 1 0 0 CHEK2 11200 broad.mit.edu 37 22 29091840 29091840 + Missense_Mutation SNP T T C rs142470496 byFrequency TCGA-FG-A87N-01A-11D-A36O-08 TCGA-FG-A87N-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 031a2d19-942c-4c6d-afbe-b6135c7ea704 d87821a1-0286-4e2e-ab6a-5b94ddecf27e g.chr22:29091840T>C ENST00000544772.1 - 12 1890 c.454A>G c.(454-456)Aag>Gag p.K152E CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000405598.1_Missense_Mutation_p.K373E|CHEK2_ENST00000382565.1_Intron NM_001257387.1 NP_001244316.1 O96017 CHK2_HUMAN checkpoint kinase 2 373 FHA. cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence PML body ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity p.K373E(9) central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2) 50 CCCAAAATCTTGGAGTGCCCA 0.418000 F breast Direct reversal of damage;Other conserved DNA damage response genes 4 73 0 0 1 0 0 PRPF8 10594 broad.mit.edu 37 17 1582120 1582120 + Missense_Mutation SNP C C T TCGA-FG-A87N-01A-11D-A36O-08 TCGA-FG-A87N-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 031a2d19-942c-4c6d-afbe-b6135c7ea704 d87821a1-0286-4e2e-ab6a-5b94ddecf27e g.chr17:1582120C>T ENST00000572621.1 - 11 1920 c.1655G>A c.(1654-1656)cGt>cAt p.R552H PRPF8_ENST00000304992.6_Missense_Mutation_p.R552H Q6P2Q9 PRP8_HUMAN pre-mRNA processing factor 8 552 catalytic step 2 spliceosome|nuclear speck|U5 snRNP protein binding|RNA binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3) 77 UCEC - Uterine corpus endometrioid carcinoma (25;0.0855) CTTAGTCAAACGCAGAACTTC 0.493000 23 30 0 0 1 0 0 LRCH1 23143 broad.mit.edu 37 13 47266679 47266679 + Silent SNP C C T TCGA-FG-A87N-01A-11D-A36O-08 TCGA-FG-A87N-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 031a2d19-942c-4c6d-afbe-b6135c7ea704 d87821a1-0286-4e2e-ab6a-5b94ddecf27e g.chr13:47266679C>T ENST00000311191.6 + 8 1252 c.1023C>T c.(1021-1023)gaC>gaT p.D341D LRCH1_ENST00000389797.3_Silent_p.D341D|LRCH1_ENST00000389798.3_Silent_p.D341D NM_001164213.1 NP_001157685.1 Q9Y2L9 LRCH1_HUMAN leucine-rich repeats and calponin homology (CH) domain containing 1 341 breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 26 all_lung(13;5.61e-07)|Lung NSC(96;0.000117)|Breast(56;0.000141)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;0.000123) AGCCTTCTGACGAAGACACTG 0.413000 64 81 0 0 1 0 0 ZNF560 147741 broad.mit.edu 37 19 9578508 9578508 + Missense_Mutation SNP C C T TCGA-FG-A87N-01A-11D-A36O-08 TCGA-FG-A87N-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 031a2d19-942c-4c6d-afbe-b6135c7ea704 d87821a1-0286-4e2e-ab6a-5b94ddecf27e g.chr19:9578508C>T ENST00000301480.4 - 10 1328 c.1115G>A c.(1114-1116)gGg>gAg p.G372E NM_152476.2 NP_689689.2 Q96MR9 ZN560_HUMAN zinc finger protein 560 372 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4) 65 AGGTTTTATCCCAATGTGGGT 0.403000 48 54 0 0 1 0 0 NEBL 10529 broad.mit.edu 37 10 21098829 21098829 + Splice_Site SNP T T C TCGA-FG-A87N-01A-11D-A36O-08 TCGA-FG-A87N-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 031a2d19-942c-4c6d-afbe-b6135c7ea704 d87821a1-0286-4e2e-ab6a-5b94ddecf27e g.chr10:21098829T>C ENST00000377122.4 - 25 2915 c.e25-2 NEBL_ENST00000417816.2_Intron|NEBL_ENST00000377159.4_Intron NM_006393.2 NP_006384.1 O76041 NEBL_HUMAN nebulette regulation of actin filament length actin binding|structural constituent of muscle NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 70 CTTTGAGGTCTTTTGCCAAAA 0.393000 18 32 0 0 1 0 0 BLVRB 645 broad.mit.edu 37 19 40953796 40953796 + Silent SNP C C T TCGA-FG-A87N-01A-11D-A36O-08 TCGA-FG-A87N-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 031a2d19-942c-4c6d-afbe-b6135c7ea704 d87821a1-0286-4e2e-ab6a-5b94ddecf27e g.chr19:40953796C>T ENST00000263368.4 - 5 772 c.621G>A c.(619-621)taG>taA p.*207* BLVRB_ENST00000595483.1_Silent_p.*164* NM_000713.2 NP_000704.1 P30043 BLVRB_HUMAN biliverdin reductase B (flavin reductase (NADPH)) 0 heme catabolic process cytosol biliverdin reductase activity|binding|flavin reductase activity large_intestine(3)|lung(3) 6 Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384) NADH(DB00157)|Riboflavin(DB00140) GGACAGAGTGCTACTGGTACT 0.537000 15 52 0 0 1 0 0 ACSL4 2182 broad.mit.edu 37 X 108902736 108902736 + Missense_Mutation SNP G G T TCGA-FG-A87N-01A-11D-A36O-08 TCGA-FG-A87N-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 031a2d19-942c-4c6d-afbe-b6135c7ea704 d87821a1-0286-4e2e-ab6a-5b94ddecf27e g.chrX:108902736G>T ENST00000340800.2 - 16 2329 c.1825C>A c.(1825-1827)Cag>Aag p.Q609K ACSL4_ENST00000469796.2_Missense_Mutation_p.Q609K|ACSL4_ENST00000348502.6_Missense_Mutation_p.Q568K NM_022977.2 NP_075266.1 O60488 ACSL4_HUMAN acyl-CoA synthetase long-chain family member 4 609 fatty acid metabolic process|learning or memory|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane ATP binding|long-chain fatty acid-CoA ligase activity breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(2) 22 Icosapent(DB00159)|Troglitazone(DB00197) ACATAGGACTGATCACTAAAA 0.323000 39 67 3.21399e-22 3.27464e-22 1 1 0 FKBP4 2288 broad.mit.edu 37 12 2909744 2909744 + Splice_Site SNP G G A TCGA-FG-A87N-01A-11D-A36O-08 TCGA-FG-A87N-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 031a2d19-942c-4c6d-afbe-b6135c7ea704 d87821a1-0286-4e2e-ab6a-5b94ddecf27e g.chr12:2909744G>A ENST00000001008.4 + 8 1219 c.e8+1 RP4-816N1.6_ENST00000547834.1_RNA|RP4-816N1.7_ENST00000547042.1_RNA NM_002014.3 NP_002005.1 Q02790 FKBP4_HUMAN FK506 binding protein 4, 59kDa negative regulation of microtubule polymerization or depolymerization|negative regulation of neuron projection development|protein folding axonal growth cone|cytosol|membrane|microtubule|nucleus FK506 binding|heat shock protein binding|peptidyl-prolyl cis-trans isomerase activity|protein binding, bridging breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(1) 14 OV - Ovarian serous cystadenocarcinoma(31;0.00105) Dimethyl sulfoxide(DB01093) CTGTAACAAGGTGAGGCCCCC 0.547000 29 31 0 0 1 0 0 ADAMTS3 9508 broad.mit.edu 37 4 73280660 73280660 + Missense_Mutation SNP T T A TCGA-FG-A87N-01A-11D-A36O-08 TCGA-FG-A87N-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 031a2d19-942c-4c6d-afbe-b6135c7ea704 d87821a1-0286-4e2e-ab6a-5b94ddecf27e g.chr4:73280660T>A ENST00000286657.4 - 4 569 c.533A>T c.(532-534)gAg>gTg p.E178V NM_014243.2 NP_055058.2 O15072 ATS3_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 3 178 collagen catabolic process|collagen fibril organization|proteolysis proteinaceous extracellular matrix heparin binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 76 Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) AATGAAATACTCTTCATTATC 0.353000 52 74 0 0 1 0 0 PMPCB 9512 broad.mit.edu 37 7 102952301 102952301 + Silent SNP T T C TCGA-FG-A87N-01A-11D-A36O-08 TCGA-FG-A87N-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 031a2d19-942c-4c6d-afbe-b6135c7ea704 d87821a1-0286-4e2e-ab6a-5b94ddecf27e g.chr7:102952301T>C ENST00000249269.4 + 11 1325 c.1287T>C c.(1285-1287)taT>taC p.Y429Y PMPCB_ENST00000420236.2_Silent_p.Y324Y|PMPCB_ENST00000428154.1_Silent_p.Y429Y NM_004279.2 NP_004270.2 O75439 MPPB_HUMAN peptidase (mitochondrial processing) beta 429 proteolysis mitochondrial matrix metalloendopeptidase activity|zinc ion binding central_nervous_system(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(9)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 TGTTATGCTATAATAGAAGGA 0.343000 5 47 0 0 1 0 0 TTLL5 23093 broad.mit.edu 37 14 76259309 76259309 + Missense_Mutation SNP G G A TCGA-FG-A87N-01A-11D-A36O-08 TCGA-FG-A87N-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 031a2d19-942c-4c6d-afbe-b6135c7ea704 d87821a1-0286-4e2e-ab6a-5b94ddecf27e g.chr14:76259309G>A ENST00000298832.9 + 27 3242 c.3037G>A c.(3037-3039)Gag>Aag p.E1013K TTLL5_ENST00000557636.1_Missense_Mutation_p.E1028K|TTLL5_ENST00000554510.1_Missense_Mutation_p.E522K|TTLL5_ENST00000556893.1_Missense_Mutation_p.E564K NM_015072.4 NP_055887.3 Q6EMB2 TTLL5_HUMAN tubulin tyrosine ligase-like family, member 5 1013 protein modification process|transcription, DNA-dependent centrosome|cilium|microtubule basal body|nucleus tubulin-tyrosine ligase activity NS(2)|breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(3)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2) 50 BRCA - Breast invasive adenocarcinoma(234;0.029) AACACAAAAAGAGGGAGAAGA 0.413000 22 28 0 0 1 0 0 SAP30BP 29115 broad.mit.edu 37 17 73695883 73695883 + Missense_Mutation SNP C C T TCGA-FG-A87N-01A-11D-A36O-08 TCGA-FG-A87N-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 031a2d19-942c-4c6d-afbe-b6135c7ea704 d87821a1-0286-4e2e-ab6a-5b94ddecf27e g.chr17:73695883C>T ENST00000584667.1 + 5 585 c.328C>T c.(328-330)Cgg>Tgg p.R110W SAP30BP_ENST00000579864.1_3'UTR|SAP30BP_ENST00000355423.3_Missense_Mutation_p.R94W NM_013260.6 NP_037392.1 Q9UHR5 S30BP_HUMAN SAP30 binding protein 110 apoptosis|induction of apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1) 17 all_cancers(13;6.42e-08) all cancers(21;4.25e-07)|Epithelial(20;9.57e-07)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154) TGAAAGAGTTCGGAACATGTC 0.453000 59 86 0 0 1 0 0 LPAR3 23566 broad.mit.edu 37 1 85331664 85331665 + Frame_Shift_Ins INS - - A rs76299065 TCGA-FG-A87N-01A-11D-A36O-08 TCGA-FG-A87N-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 031a2d19-942c-4c6d-afbe-b6135c7ea704 d87821a1-0286-4e2e-ab6a-5b94ddecf27e g.chr1:85331664_85331665insA ENST00000440886.1 - 1 177_178 c.139_140insT c.(139-141)taafs p.*47fs LPAR3_ENST00000370611.3_Frame_Shift_Ins_p.*47fs|LPAR3_ENST00000491034.1_5'UTR Q9UBY5 LPAR3_HUMAN lysophosphatidic acid receptor 3 47 G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission integral to plasma membrane|intracellular membrane-bounded organelle central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|urinary_tract(1) 24 CAGAGAATTAGAAAAAAAAATA 0.401 7 149 --- --- --- --- CTBP1 1487 broad.mit.edu 37 4 1232006 1232008 + In_Frame_Del DEL AGA AGA - TCGA-FG-A87N-01A-11D-A36O-08 TCGA-FG-A87N-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 031a2d19-942c-4c6d-afbe-b6135c7ea704 d87821a1-0286-4e2e-ab6a-5b94ddecf27e g.chr4:1232006_1232008delAGA ENST00000510568.1 - 2 716_718 c.125_127delTCT c.(124-129)tgc>t p.FC42del CTBP1_ENST00000290921.6_In_Frame_Del_p.FC53del|CTBP1_ENST00000515690.1_5'UTR|CTBP1_ENST00000382952.3_In_Frame_Del_p.FC42del Q13363 CTBP1_HUMAN C-terminal binding protein 1 53 Interaction with GLIS2 1 (By similarity). interspecies interaction between organisms|negative regulation of cell proliferation|negative regulation of histone H4 acetylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of histone deacetylation|protein phosphorylation|regulation of cell cycle|regulation of transcription by chromatin organization|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|viral genome replication|white fat cell differentiation cytoplasm|transcriptional repressor complex NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein C-terminus binding|protein domain specific binding|transcription factor binding endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|urinary_tract(1) 8 OV - Ovarian serous cystadenocarcinoma(23;0.00818) Colorectal(103;0.2) TGCGCGTCGCAGAAGGCCACAGT 0.665 38 61 --- --- --- --- TBC1D9 23158 broad.mit.edu 37 4 141677078 141677080 + In_Frame_Del DEL CCG CCG - TCGA-FG-A87N-01A-11D-A36O-08 TCGA-FG-A87N-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 031a2d19-942c-4c6d-afbe-b6135c7ea704 d87821a1-0286-4e2e-ab6a-5b94ddecf27e g.chr4:141677078_141677080delCCG ENST00000442267.2 - 1 194_196 c.120_122delCGG c.(118-123)gga>gg p.GG40del NM_015130.2 NP_055945.2 Q6ZT07 TBCD9_HUMAN TBC1 domain family, member 9 (with GRAM domain) 40 intracellular calcium ion binding|Rab GTPase activator activity endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 31 all_hematologic(180;0.162) Medulloblastoma(177;0.00498) ACCCGCCAGTCCGCCGCCGCCGC 0.739 3 6 --- --- --- --- ZNF292 23036 broad.mit.edu 37 6 87865403 87865404 + Frame_Shift_Ins INS - - T TCGA-FG-A87N-01A-11D-A36O-08 TCGA-FG-A87N-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 031a2d19-942c-4c6d-afbe-b6135c7ea704 d87821a1-0286-4e2e-ab6a-5b94ddecf27e g.chr6:87865403_87865404insT ENST00000369577.3 + 1 137_138 c.94_95insT c.(94-96)ggafs p.G32fs ZNF292_ENST00000392985.3_Frame_Shift_Ins_p.G32fs|ZNF292_ENST00000369578.2_3'UTR|ZNF292_ENST00000339907.4_Frame_Shift_Ins_p.G32fs NM_015021.1 NP_055836.1 O60281 ZN292_HUMAN zinc finger protein 292 32 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) GCTCCAGGAGCTGGAGCTACAG 0.703 6 5 --- --- --- --- RP11-274B21.1 0 broad.mit.edu 37 7 128255832 128255833 + RNA INS - - T TCGA-FG-A87N-01A-11D-A36O-08 TCGA-FG-A87N-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 031a2d19-942c-4c6d-afbe-b6135c7ea704 d87821a1-0286-4e2e-ab6a-5b94ddecf27e g.chr7:128255832_128255833insT ENST00000605862.1 + 0 758 TATAGAAATGATTTTTTTTTTC 0.282 2 4 --- --- --- --- C9orf43 257169 broad.mit.edu 37 9 116187646 116187648 + In_Frame_Del DEL GCA GCA - TCGA-FG-A87N-01A-11D-A36O-08 TCGA-FG-A87N-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 031a2d19-942c-4c6d-afbe-b6135c7ea704 d87821a1-0286-4e2e-ab6a-5b94ddecf27e g.chr9:116187646_116187648delGCA ENST00000288462.4 + 10 1334_1336 c.888_890delGCA c.(886-891)cgg>cg p.RQ296del C9orf43_ENST00000374165.1_In_Frame_Del_p.RQ296del NM_152786.1 NP_689999.1 Q8TAL5 CI043_HUMAN chromosome 9 open reading frame 43 296 Gln-rich. breast(2)|large_intestine(6)|lung(2)|ovary(1)|pancreas(1)|prostate(3) 15 agcagcagcggcagcagcagcag 0.557 8 123 --- --- --- --- VAV2 7410 broad.mit.edu 37 9 136648690 136648691 + Frame_Shift_Ins INS - - TG TCGA-FG-A87N-01A-11D-A36O-08 TCGA-FG-A87N-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 031a2d19-942c-4c6d-afbe-b6135c7ea704 d87821a1-0286-4e2e-ab6a-5b94ddecf27e g.chr9:136648690_136648691insTG ENST00000371851.1 - 17 1952_1953 c.1627_1628insCA c.(1627-1629)gtgfs p.V543fs VAV2_ENST00000406606.3_Frame_Shift_Ins_p.V543fs|VAV2_ENST00000371850.3_Frame_Shift_Ins_p.V553fs P52735 VAV2_HUMAN vav 2 guanine nucleotide exchange factor 553 angiogenesis|apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol metal ion binding|Rho guanyl-nucleotide exchange factor activity breast(1)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1) 35 OV - Ovarian serous cystadenocarcinoma(145;3.9e-07)|Epithelial(140;2.07e-06)|all cancers(34;9.39e-06) CTTGGTACACATGTATCCCTGG 0.629 11 43 --- --- --- --- BEND7 222389 broad.mit.edu 37 10 13534788 13534788 + Frame_Shift_Del DEL T T - TCGA-FG-A87N-01A-11D-A36O-08 TCGA-FG-A87N-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 031a2d19-942c-4c6d-afbe-b6135c7ea704 d87821a1-0286-4e2e-ab6a-5b94ddecf27e g.chr10:13534788delT ENST00000341083.3 - 5 800 c.504delA c.(502-504)aafs p.K168fs BEND7_ENST00000396898.2_Frame_Shift_Del_p.K233fs|BEND7_ENST00000396900.2_Frame_Shift_Del_p.K220fs|BEND7_ENST00000378605.3_Frame_Shift_Del_p.K181fs NM_152751.2 NP_689964.2 Q8N7W2 BEND7_HUMAN BEN domain containing 7 220 protein binding breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|stomach(1) 17 TTGGGGGCACTTTTTTCTTTT 0.458 51 75 --- --- --- --- SCFD1 23256 broad.mit.edu 37 14 31091567 31091569 + In_Frame_Del DEL CAG CAG - TCGA-FG-A87N-01A-11D-A36O-08 TCGA-FG-A87N-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 031a2d19-942c-4c6d-afbe-b6135c7ea704 d87821a1-0286-4e2e-ab6a-5b94ddecf27e g.chr14:31091567_31091569delCAG ENST00000458591.2 + 1 250_252 c.23_25delCAG c.(22-27)aca>a p.TA8del SCFD1_ENST00000396629.2_5'UTR|SCFD1_ENST00000421551.3_5'UTR|SCFD1_ENST00000541123.1_5'UTR|SCFD1_ENST00000544052.2_5'UTR NM_016106.3 NP_057190.2 Q8WVM8 SCFD1_HUMAN sec1 family domain containing 1 8 Poly-Ala. post-Golgi vesicle-mediated transport|protein transport|regulation of ER to Golgi vesicle-mediated transport|response to toxin|retrograde vesicle-mediated transport, Golgi to ER|vesicle docking involved in exocytosis cis-Golgi network|endoplasmic reticulum membrane|Golgi cisterna membrane|Golgi-associated vesicle|plasma membrane syntaxin-5 binding endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1) 13 Hepatocellular(127;0.0877) LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119) GBM - Glioblastoma multiforme(265;0.0181) gcggcagcgacagcagcagcagc 0.645 2 4 --- --- --- --- RP11-252A24.2 0 broad.mit.edu 37 16 74372915 74372915 + RNA DEL T T - rs67181940 TCGA-FG-A87N-01A-11D-A36O-08 TCGA-FG-A87N-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 031a2d19-942c-4c6d-afbe-b6135c7ea704 d87821a1-0286-4e2e-ab6a-5b94ddecf27e g.chr16:74372915delT ENST00000429810.2 - 0 1404 ACGTAGtttgttttttttttt 0.438 4 5 --- --- --- --- ZNF446 55663 broad.mit.edu 37 19 58991096 58991096 + Splice_Site DEL T T - TCGA-FG-A87N-01A-11D-A36O-08 TCGA-FG-A87N-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 031a2d19-942c-4c6d-afbe-b6135c7ea704 d87821a1-0286-4e2e-ab6a-5b94ddecf27e g.chr19:58991096delT ENST00000596341.1 + 5 2932 c.e5+2 ZNF446_ENST00000335841.4_Intron|ZNF446_ENST00000594369.1_Splice_Site Q9NWS9 ZN446_HUMAN zinc finger protein 446 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1) 8 all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179) TCTCCCTGGGTGAGGACCAGC 0.677 2 4 --- --- --- ---