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 LOC440563 440563 broad.mit.edu 37 1 13183032 13183032 + Missense_Mutation SNP C T T rs55971446 by1000genomes TCGA-14-1823-01A-01W-0643-08 TCGA-14-1823-10A-01W-0644-08 Somatic Phase_I Capture Illumina GAIIx 1c3ddf6a-e496-4b87-833b-084d814b6876 4ba7b443-5214-4348-bac2-977d5d76b2f8 g.chr1:13183032C>T uc010obg.1 - 1 936 c.841G>A c.(841-843)GAG>AAG p.E281K NM_001136561 NP_001130033 B2RXH8 B2RXH8_HUMAN heterogeneous nuclear ribonucleoprotein C-like 281 ribonucleoprotein complex nucleic acid binding|nucleotide binding 0 CTGTTATCCTCTCCTTCCTCA 0.443 PADI6 353238 broad.mit.edu 37 1 17721458 17721458 + Missense_Mutation SNP G A A TCGA-14-1823-01A-01W-0643-08 TCGA-14-1823-10A-01W-0644-08 Somatic Phase_I Capture Illumina GAIIx 1c3ddf6a-e496-4b87-833b-084d814b6876 4ba7b443-5214-4348-bac2-977d5d76b2f8 g.chr1:17721458G>A uc001bak.1 + 13 1349 c.1349G>A c.(1348-1350)CGG>CAG p.R450Q NM_207421 NP_997304 Q6TGC4 PADI6_HUMAN peptidylarginine deiminase type 6 442 peptidyl-citrulline biosynthetic process from peptidyl-arginine cytoplasm|nucleus calcium ion binding|protein-arginine deiminase activity breast(1) 1 Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189) L-Citrulline(DB00155) GCAGAGGGCCGGGCCATGAGT 0.602 KIAA0090 23065 broad.mit.edu 37 1 19546124 19546124 + Missense_Mutation SNP T C C TCGA-14-1823-01A-01W-0643-08 TCGA-14-1823-10A-01W-0644-08 Somatic Phase_I Capture Illumina GAIIx 1c3ddf6a-e496-4b87-833b-084d814b6876 4ba7b443-5214-4348-bac2-977d5d76b2f8 g.chr1:19546124T>C uc001bbo.2 - 22 2784 c.2741A>G c.(2740-2742)CAG>CGG p.Q914R KIAA0090_uc001bbn.2_RNA|KIAA0090_uc001bbp.2_Missense_Mutation_p.Q913R|KIAA0090_uc001bbq.2_Missense_Mutation_p.Q913R|KIAA0090_uc001bbr.2_Missense_Mutation_p.Q892R NM_015047 NP_055862 Q8N766 K0090_HUMAN hypothetical protein LOC23065 precursor 914 DUF1620.|Extracellular (Potential). integral to membrane protein binding ovary(1) 1 Colorectal(325;0.000147)|Renal(390;0.000469)|Breast(348;0.00366)|all_lung(284;0.00519)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707) UCEC - Uterine corpus endometrioid carcinoma (279;0.00492)|BRCA - Breast invasive adenocarcinoma(304;3.84e-05)|Kidney(64;0.000191)|KIRC - Kidney renal clear cell carcinoma(64;0.00274)|GBM - Glioblastoma multiforme(114;0.005)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0656) AGAAACTGTCTGGTTATAGTT 0.507 KIF17 57576 broad.mit.edu 37 1 20992723 20992723 + Silent SNP G A A TCGA-14-1823-01A-01W-0643-08 TCGA-14-1823-10A-01W-0644-08 Somatic Phase_I Capture Illumina GAIIx 1c3ddf6a-e496-4b87-833b-084d814b6876 4ba7b443-5214-4348-bac2-977d5d76b2f8 g.chr1:20992723G>A uc001bdr.3 - 14 3013 c.2895C>T c.(2893-2895)GAC>GAT p.D965D KIF17_uc001bdp.3_Silent_p.D242D|KIF17_uc001bdq.3_Silent_p.D243D|KIF17_uc009vpx.2_Silent_p.D335D|KIF17_uc001bds.3_Silent_p.D964D NM_020816 NP_065867 Q9P2E2 KIF17_HUMAN kinesin family member 17 isoform a 965 microtubule-based movement|protein transport cytoplasm|microtubule ATP binding ovary(3)|skin(1) 4 all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209) TCTTCCTGGCGTCTGTGCTGA 0.517 NR0B2 8431 broad.mit.edu 37 1 27240176 27240176 + Missense_Mutation SNP G A A TCGA-14-1823-01A-01W-0643-08 TCGA-14-1823-10A-01W-0644-08 Somatic Phase_I Capture Illumina GAIIx 1c3ddf6a-e496-4b87-833b-084d814b6876 4ba7b443-5214-4348-bac2-977d5d76b2f8 g.chr1:27240176G>A uc001bnf.2 - 1 392 c.256C>T c.(256-258)CGG>TGG p.R86W NM_021969 NP_068804 Q15466 NR0B2_HUMAN short heterodimer partner 86 Ligand-binding (By similarity). cholesterol metabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor cytoplasm|nucleoplasm DNA binding|protein domain specific binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription corepressor activity 0 all_cancers(24;1.23e-26)|all_epithelial(13;1.19e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;0.00017)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.01e-51)|OV - Ovarian serous cystadenocarcinoma(117;8.22e-30)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419) TGCAGCAGCCGCCGCTGGTCC 0.642 NBPF9 400818 broad.mit.edu 37 1 144615246 144615247 + Splice_Site INS - AG AG TCGA-14-1823-01A-01W-0643-08 TCGA-14-1823-10A-01W-0644-08 Somatic Phase_I Capture Illumina GAIIx 1c3ddf6a-e496-4b87-833b-084d814b6876 4ba7b443-5214-4348-bac2-977d5d76b2f8 g.chr1:144615246_144615247insAG uc009wig.1 + 3 190 c.114_splice c.e3+2 p.L38_splice NBPF9_uc010oxn.1_Intron|NBPF9_uc010oxo.1_Intron|NBPF9_uc010oxr.1_Intron|NBPF9_uc010oxt.1_Intron|NBPF9_uc001ekg.1_Intron|NBPF9_uc001ekk.1_Intron|NBPF10_uc009wir.2_Intron|NBPF9_uc010oyd.1_Intron|NBPF9_uc010oye.1_5'UTR|NBPF9_uc001eli.3_RNA|NBPF9_uc010oyf.1_5'UTR|NBPF9_uc010oyg.1_Frame_Shift_Ins_p.K39fs|NBPF9_uc009wii.1_5'UTR|NBPF9_uc009wif.1_RNA|C1orf152_uc001elf.3_5'Flank NM_001037675 NP_001032764 Q3BBV1 NBPFK_HUMAN hypothetical protein LOC400818 cytoplasm 0 GTAAACCTCAAAGAGATGTTTT 0.470 TNR 7143 broad.mit.edu 37 1 175372637 175372637 + Silent SNP C T T TCGA-14-1823-01A-01W-0643-08 TCGA-14-1823-10A-01W-0644-08 Somatic Phase_I Capture Illumina GAIIx 1c3ddf6a-e496-4b87-833b-084d814b6876 4ba7b443-5214-4348-bac2-977d5d76b2f8 g.chr1:175372637C>T uc001gkp.1 - 2 696 c.615G>A c.(613-615)CCG>CCA p.P205P TNR_uc009wwu.1_Silent_p.P205P|TNR_uc010pmz.1_Silent_p.P205P NM_003285 NP_003276 Q92752 TENR_HUMAN tenascin R precursor 205 Cys-rich. axon guidance|cell adhesion|signal transduction proteinaceous extracellular matrix pancreas(5)|ovary(4)|central_nervous_system(1)|skin(1) 11 Renal(580;0.146) AGCAACCCAGCGGGCAGTAGG 0.597 CFHR4 10877 broad.mit.edu 37 1 196871608 196871608 + Missense_Mutation SNP G A A TCGA-14-1823-01A-01W-0643-08 TCGA-14-1823-10A-01W-0644-08 Somatic Phase_I Capture Illumina GAIIx 1c3ddf6a-e496-4b87-833b-084d814b6876 4ba7b443-5214-4348-bac2-977d5d76b2f8 g.chr1:196871608G>A uc001gto.2 + 2 188 c.119G>A c.(118-120)CGT>CAT p.R40H CFHR4_uc009wyy.2_Missense_Mutation_p.R39H|CFHR4_uc001gtp.2_Missense_Mutation_p.R40H NM_006684 NP_006675 Q92496 FHR4_HUMAN complement factor H-related 4 precursor 40 Sushi 1. extracellular region lipid transporter activity ovary(1)|pancreas(1)|skin(1) 3 AAGAGTTTGCGTAGACTATAC 0.323 NAALADL1 10004 broad.mit.edu 37 11 64825878 64825878 + Missense_Mutation SNP T A A TCGA-14-1823-01A-01W-0643-08 TCGA-14-1823-10A-01W-0644-08 Somatic Phase_I Capture Illumina GAIIx 1c3ddf6a-e496-4b87-833b-084d814b6876 4ba7b443-5214-4348-bac2-977d5d76b2f8 g.chr11:64825878T>A uc001ocn.2 - 1 132 c.116A>T c.(115-117)GAC>GTC p.D39V NAALADL1_uc010rnw.1_5'UTR NM_005468 NP_005459 Q9UQQ1 NALDL_HUMAN N-acetylated alpha-linked acidic 39 Extracellular (Potential). proteolysis apical plasma membrane|integral to membrane carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity 0 CAGGTCCAGGTCCTGGGGGGC 0.637 SART1 9092 broad.mit.edu 37 11 65743897 65743897 + Missense_Mutation SNP G A A TCGA-14-1823-01A-01W-0643-08 TCGA-14-1823-10A-01W-0644-08 Somatic Phase_I Capture Illumina GAIIx 1c3ddf6a-e496-4b87-833b-084d814b6876 4ba7b443-5214-4348-bac2-977d5d76b2f8 g.chr11:65743897G>A uc001ogl.2 + 13 1696 c.1604G>A c.(1603-1605)CGC>CAC p.R535H NM_005146 NP_005137 O43290 SNUT1_HUMAN squamous cell carcinoma antigen recognized by T 535 cell cycle arrest|induction of apoptosis by intracellular signals|positive regulation of cytotoxic T cell differentiation|spliceosomal snRNP assembly Cajal body|catalytic step 2 spliceosome|cytosol ovary(1) 1 CTGGAGTCTCGCCAGCGGGGC 0.637 PRB2 653247 broad.mit.edu 37 12 11546320 11546322 + In_Frame_Del DEL TTG - - TCGA-14-1823-01A-01W-0643-08 TCGA-14-1823-10A-01W-0644-08 Somatic Phase_I Capture Illumina GAIIx 1c3ddf6a-e496-4b87-833b-084d814b6876 4ba7b443-5214-4348-bac2-977d5d76b2f8 g.chr12:11546320_11546322delTTG uc010shk.1 - 3 725_727 c.690_692delCAA c.(688-693)AACAAG>AAG p.N230del NM_006248 NP_006239 proline-rich protein BstNI subfamily 2 0 all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09) OV - Ovarian serous cystadenocarcinoma(49;0.185) ACTTTGGGACTTGTTGTCTCCTT 0.601 SLC38A1 81539 broad.mit.edu 37 12 46594885 46594885 + Missense_Mutation SNP G C C TCGA-14-1823-01A-01W-0643-08 TCGA-14-1823-10A-01W-0644-08 Somatic Phase_I Capture Illumina GAIIx 1c3ddf6a-e496-4b87-833b-084d814b6876 4ba7b443-5214-4348-bac2-977d5d76b2f8 g.chr12:46594885G>C uc001rpa.2 - 13 1257 c.999C>G c.(997-999)TTC>TTG p.F333L SLC38A1_uc001rpb.2_Missense_Mutation_p.F333L|SLC38A1_uc001rpc.2_Missense_Mutation_p.F333L|SLC38A1_uc001rpd.2_Missense_Mutation_p.F333L|SLC38A1_uc001rpe.2_Missense_Mutation_p.F333L|SLC38A1_uc010slh.1_Missense_Mutation_p.F306L|SLC38A1_uc009zkj.1_Missense_Mutation_p.F333L NM_030674 NP_109599 Q9H2H9 S38A1_HUMAN amino acid transporter system A1 333 Helical; (Potential). cellular nitrogen compound metabolic process|neurotransmitter uptake integral to membrane|plasma membrane sodium:amino acid symporter activity ovary(2)|skin(2)|central_nervous_system(1) 5 Lung SC(27;0.137)|Renal(347;0.236) all cancers(1;0.00805)|OV - Ovarian serous cystadenocarcinoma(5;0.0106)|Epithelial(2;0.0344) ACTTACCATAGAATGTCAAGT 0.299 OR6C6 283365 broad.mit.edu 37 12 55688832 55688832 + Missense_Mutation SNP C T T TCGA-14-1823-01A-01W-0643-08 TCGA-14-1823-10A-01W-0644-08 Somatic Phase_I Capture Illumina GAIIx 1c3ddf6a-e496-4b87-833b-084d814b6876 4ba7b443-5214-4348-bac2-977d5d76b2f8 g.chr12:55688832C>T uc010sph.1 - 1 185 c.185G>A c.(184-186)CGT>CAT p.R62H NM_001005493 NP_001005493 A6NF89 OR6C6_HUMAN olfactory receptor, family 6, subfamily C, 62 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(1)|skin(1) 2 GGAGAAATTACGGAGAAAGAA 0.388 APPL2 55198 broad.mit.edu 37 12 105600948 105600948 + Missense_Mutation SNP C T T TCGA-14-1823-01A-01W-0643-08 TCGA-14-1823-10A-01W-0644-08 Somatic Phase_I Capture Illumina GAIIx 1c3ddf6a-e496-4b87-833b-084d814b6876 4ba7b443-5214-4348-bac2-977d5d76b2f8 g.chr12:105600948C>T uc001tlf.1 - 8 730 c.512G>A c.(511-513)CGG>CAG p.R171Q APPL2_uc010swt.1_Missense_Mutation_p.R128Q|APPL2_uc001tlg.1_5'UTR|APPL2_uc010swu.1_Missense_Mutation_p.R177Q|APPL2_uc009zuq.2_Missense_Mutation_p.R128Q NM_018171 NP_060641 Q8NEU8 DP13B_HUMAN adaptor protein, phosphotyrosine interaction, PH 171 Required for RAB5A binding (By similarity). cell cycle|cell proliferation|signal transduction early endosome membrane|nucleus protein binding upper_aerodigestive_tract(1) 1 CTGCTTCCGCCGGGCCGCGGC 0.522 GZMB 3002 broad.mit.edu 37 14 25100297 25100297 + Missense_Mutation SNP T C C TCGA-14-1823-01A-01W-0643-08 TCGA-14-1823-10A-01W-0644-08 Somatic Phase_I Capture Illumina GAIIx 1c3ddf6a-e496-4b87-833b-084d814b6876 4ba7b443-5214-4348-bac2-977d5d76b2f8 g.chr14:25100297T>C uc001wps.2 - 5 790 c.724A>G c.(724-726)AAA>GAA p.K242E GZMB_uc010ama.2_Missense_Mutation_p.K230E|GZMB_uc010amb.2_RNA NM_004131 NP_004122 P10144 GRAB_HUMAN granzyme B precursor 242 Peptidase S1. activation of pro-apoptotic gene products|cleavage of lamin|cytolysis|induction of apoptosis by intracellular signals cytosol|immunological synapse|nucleus protein binding|serine-type endopeptidase activity 0 GBM - Glioblastoma multiforme(265;0.028) TTCATGGTTTTCTTTATCCAG 0.493 ESRRB 2103 broad.mit.edu 37 14 76957925 76957925 + Missense_Mutation SNP A C C TCGA-14-1823-01A-01W-0643-08 TCGA-14-1823-10A-01W-0644-08 Somatic Phase_I Capture Illumina GAIIx 1c3ddf6a-e496-4b87-833b-084d814b6876 4ba7b443-5214-4348-bac2-977d5d76b2f8 g.chr14:76957925A>C uc001xsq.1 + 6 990 c.923A>C c.(922-924)GAT>GCT p.D308A ESRRB_uc001xsr.2_Missense_Mutation_p.D308A|ESRRB_uc001xso.2_RNA NM_004452 NP_004443 A2VDJ2 A2VDJ2_HUMAN estrogen-related receptor beta 308 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding ovary(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(234;0.0213) TACATCATGGATGAGGAGCAC 0.592 KCNK13 56659 broad.mit.edu 37 14 90528848 90528848 + Missense_Mutation SNP C T T TCGA-14-1823-01A-01W-0643-08 TCGA-14-1823-10A-01W-0644-08 Somatic Phase_I Capture Illumina GAIIx 1c3ddf6a-e496-4b87-833b-084d814b6876 4ba7b443-5214-4348-bac2-977d5d76b2f8 g.chr14:90528848C>T uc001xye.1 + 1 741 c.299C>T c.(298-300)GCC>GTC p.A100V NM_022054 NP_071337 Q9HB14 KCNKD_HUMAN potassium channel, subfamily K, member 13 100 integral to membrane potassium channel activity|voltage-gated ion channel activity skin(1) 1 all_cancers(154;0.186) TTCACCGGCGCCTTCTACTTC 0.692 FOXN1 8456 broad.mit.edu 37 17 26862064 26862064 + Missense_Mutation SNP C G G TCGA-14-1823-01A-01W-0643-08 TCGA-14-1823-10A-01W-0644-08 Somatic Phase_I Capture Illumina GAIIx 1c3ddf6a-e496-4b87-833b-084d814b6876 4ba7b443-5214-4348-bac2-977d5d76b2f8 g.chr17:26862064C>G uc010crm.2 + 8 1673 c.1475C>G c.(1474-1476)CCT>CGT p.P492R FOXN1_uc002hbj.2_Missense_Mutation_p.P492R NM_003593 NP_003584 O15353 FOXN1_HUMAN forkhead box N1 492 defense response|embryo development|epithelial cell proliferation|keratinocyte differentiation|organ morphogenesis|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|thymus development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding skin(1) 1 Lung NSC(42;0.00431) CAGGACTCGCCTCTGCCTGCC 0.687 HOXB13 10481 broad.mit.edu 37 17 46805737 46805737 + Silent SNP C A A TCGA-14-1823-01A-01W-0643-08 TCGA-14-1823-10A-01W-0644-08 Somatic Phase_I Capture Illumina GAIIx 1c3ddf6a-e496-4b87-833b-084d814b6876 4ba7b443-5214-4348-bac2-977d5d76b2f8 g.chr17:46805737C>A uc002ioa.2 - 1 375 c.219G>T c.(217-219)ACG>ACT p.T73T NM_006361 NP_006352 Q92826 HXB13_HUMAN homeobox B13 73 angiogenesis|epidermis development|response to wounding sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 GAGCTGGGGACGTCCCCTGGG 0.652 Unknown 0 broad.mit.edu 37 17 78262155 78262155 + Missense_Mutation SNP C G G TCGA-14-1823-01A-01W-0643-08 TCGA-14-1823-10A-01W-0644-08 Somatic Phase_I Capture Illumina GAIIx 1c3ddf6a-e496-4b87-833b-084d814b6876 4ba7b443-5214-4348-bac2-977d5d76b2f8 g.chr17:78262155C>G uc002jye.1 + 5 1093 c.950C>G c.(949-951)GCC>GGC p.A317G uc002jyf.2_Missense_Mutation_p.A268G|uc002jyg.1_5'UTR Homo sapiens mRNA for KIAA1618 protein, partial cds. GGGGCCTCAGCCTCTATGGTG 0.642 C18orf62 284274 broad.mit.edu 37 18 73139434 73139434 + Missense_Mutation SNP G A A rs142533881 TCGA-14-1823-01A-01W-0643-08 TCGA-14-1823-10A-01W-0644-08 Somatic Phase_I Capture Illumina GAIIx 1c3ddf6a-e496-4b87-833b-084d814b6876 4ba7b443-5214-4348-bac2-977d5d76b2f8 g.chr18:73139434G>A uc002lma.1 - 1 156 c.85C>T c.(85-87)CGG>TGG p.R29W C18orf62_uc010dqw.1_RNA|C18orf62_uc002lmb.1_RNA NM_001037331 NP_001032408 Q3B7S5 CR062_HUMAN hypothetical protein LOC284274 29 integral to membrane 0 Esophageal squamous(42;0.131)|Prostate(75;0.155) OV - Ovarian serous cystadenocarcinoma(15;6.21e-06) TTGAATATCCGTCCCATTCCT 0.498 FAM187B 148109 broad.mit.edu 37 19 35718884 35718884 + Missense_Mutation SNP A T T TCGA-14-1823-01A-01W-0643-08 TCGA-14-1823-10A-01W-0644-08 Somatic Phase_I Capture Illumina GAIIx 1c3ddf6a-e496-4b87-833b-084d814b6876 4ba7b443-5214-4348-bac2-977d5d76b2f8 g.chr19:35718884A>T uc002nyk.1 - 1 745 c.700T>A c.(700-702)TGT>AGT p.C234S NM_152481 NP_689694 Q17R55 F187B_HUMAN family with sequence similarity 187, member B 234 Extracellular (Potential). integral to membrane ovary(2) 2 CCTAAGGGACAGTCGAGCCAC 0.507 ZIM3 114026 broad.mit.edu 37 19 57647409 57647409 + Missense_Mutation SNP C G G TCGA-14-1823-01A-01W-0643-08 TCGA-14-1823-10A-01W-0644-08 Somatic Phase_I Capture Illumina GAIIx 1c3ddf6a-e496-4b87-833b-084d814b6876 4ba7b443-5214-4348-bac2-977d5d76b2f8 g.chr19:57647409C>G uc002qnz.1 - 5 682 c.296G>C c.(295-297)AGT>ACT p.S99T NM_052882 NP_443114 Q96PE6 ZIM3_HUMAN zinc finger, imprinted 3 99 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding pancreas(1)|skin(1) 2 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) TCTTGCGAGACTCTCTTTCAC 0.408 ANKRD36 375248 broad.mit.edu 37 2 97869931 97869931 + Missense_Mutation SNP A T T rs76309140 TCGA-14-1823-01A-01W-0643-08 TCGA-14-1823-10A-01W-0644-08 Somatic Phase_I Capture Illumina GAIIx 1c3ddf6a-e496-4b87-833b-084d814b6876 4ba7b443-5214-4348-bac2-977d5d76b2f8 g.chr2:97869931A>T uc010yva.1 + 50 3236 c.2992A>T c.(2992-2994)ACA>TCA p.T998S ANKRD36_uc002sxp.3_RNA NM_001164315 NP_001157787 A6QL64 AN36A_HUMAN ankyrin repeat domain 36 998 0 CATTCAGGCTACAAGTGATGA 0.289 RGPD3 653489 broad.mit.edu 37 2 107049596 107049596 + Missense_Mutation SNP G C C TCGA-14-1823-01A-01W-0643-08 TCGA-14-1823-10A-01W-0644-08 Somatic Phase_I Capture Illumina GAIIx 1c3ddf6a-e496-4b87-833b-084d814b6876 4ba7b443-5214-4348-bac2-977d5d76b2f8 g.chr2:107049596G>C uc010ywi.1 - 16 2408 c.2351C>G c.(2350-2352)ACC>AGC p.T784S NM_001144013 NP_001137485 A6NKT7 RGPD3_HUMAN RANBP2-like and GRIP domain containing 3 784 intracellular transport binding ovary(1) 1 TGAATATTTGGTAGGAGATGG 0.338 CNTNAP5 129684 broad.mit.edu 37 2 125405459 125405459 + Silent SNP C T T TCGA-14-1823-01A-01W-0643-08 TCGA-14-1823-10A-01W-0644-08 Somatic Phase_I Capture Illumina GAIIx 1c3ddf6a-e496-4b87-833b-084d814b6876 4ba7b443-5214-4348-bac2-977d5d76b2f8 g.chr2:125405459C>T uc002tno.2 + 13 2362 c.1998C>T c.(1996-1998)GCC>GCT p.A666A CNTNAP5_uc010flu.2_Silent_p.A667A NM_130773 NP_570129 Q8WYK1 CNTP5_HUMAN contactin associated protein-like 5 precursor 666 Extracellular (Potential).|Fibrinogen C-terminal. cell adhesion|signal transduction integral to membrane receptor binding ovary(10) 10 BRCA - Breast invasive adenocarcinoma(221;0.248) AGCTGGAGGCCGTGATCGACG 0.622 THSD7B 80731 broad.mit.edu 37 2 138033556 138033556 + Silent SNP G A A TCGA-14-1823-01A-01W-0643-08 TCGA-14-1823-10A-01W-0644-08 Somatic Phase_I Capture Illumina GAIIx 1c3ddf6a-e496-4b87-833b-084d814b6876 4ba7b443-5214-4348-bac2-977d5d76b2f8 g.chr2:138033556G>A uc002tva.1 + 11 2367 c.2367G>A c.(2365-2367)ACG>ACA p.T789T THSD7B_uc010zbj.1_Intron|THSD7B_uc002tvb.2_Silent_p.T679T NM_001080427 NP_001073896 thrombospondin, type I, domain containing 7B ovary(4)|central_nervous_system(2)|pancreas(1) 7 BRCA - Breast invasive adenocarcinoma(221;0.19) AGGGAATAACGGGCAGCAGTG 0.398 NEB 4703 broad.mit.edu 37 2 152425820 152425820 + Missense_Mutation SNP C T T rs149881695 by1000genomes TCGA-14-1823-01A-01W-0643-08 TCGA-14-1823-10A-01W-0644-08 Somatic Phase_I Capture Illumina GAIIx 1c3ddf6a-e496-4b87-833b-084d814b6876 4ba7b443-5214-4348-bac2-977d5d76b2f8 g.chr2:152425820C>T uc010fnx.2 - 82 12585 c.12394G>A c.(12394-12396)GTC>ATC p.V4132I NEB_uc002txr.2_Missense_Mutation_p.V555I NM_004543 NP_004534 P20929 NEBU_HUMAN nebulin isoform 3 4132 Nebulin 113. muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1) 20 BRCA - Breast invasive adenocarcinoma(221;0.219) GCATGATTGACGGACACGGAG 0.458 COBLL1 22837 broad.mit.edu 37 2 165551266 165551266 + Missense_Mutation SNP T C C TCGA-14-1823-01A-01W-0643-08 TCGA-14-1823-10A-01W-0644-08 Somatic Phase_I Capture Illumina GAIIx 1c3ddf6a-e496-4b87-833b-084d814b6876 4ba7b443-5214-4348-bac2-977d5d76b2f8 g.chr2:165551266T>C uc010zcw.1 - 15 3075 c.2951A>G c.(2950-2952)TAT>TGT p.Y984C COBLL1_uc002ucp.2_Missense_Mutation_p.Y917C|COBLL1_uc002ucq.2_Missense_Mutation_p.Y879C|COBLL1_uc010zcx.1_Missense_Mutation_p.Y925C|COBLL1_uc002ucn.2_Missense_Mutation_p.Y345C|COBLL1_uc002uco.2_Missense_Mutation_p.Y648C NM_014900 NP_055715 Q53SF7 COBL1_HUMAN COBL-like 1 955 ovary(2)|pancreas(1) 3 AGATGTCACATAGTGACCCGA 0.448 TTN 7273 broad.mit.edu 37 2 179454479 179454479 + Missense_Mutation SNP G A A TCGA-14-1823-01A-01W-0643-08 TCGA-14-1823-10A-01W-0644-08 Somatic Phase_I Capture Illumina GAIIx 1c3ddf6a-e496-4b87-833b-084d814b6876 4ba7b443-5214-4348-bac2-977d5d76b2f8 g.chr2:179454479G>A uc010zfg.1 - 253 54493 c.54269C>T c.(54268-54270)ACT>ATT p.T18090I uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.T11785I|TTN_uc010zfi.1_Missense_Mutation_p.T11718I|TTN_uc010zfj.1_Missense_Mutation_p.T11593I NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 19017 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CAGAATGGGAGTTTTTGTTTC 0.413 CCDC141 285025 broad.mit.edu 37 2 179730518 179730518 + Silent SNP G A A rs144206841 TCGA-14-1823-01A-01W-0643-08 TCGA-14-1823-10A-01W-0644-08 Somatic Phase_I Capture Illumina GAIIx 1c3ddf6a-e496-4b87-833b-084d814b6876 4ba7b443-5214-4348-bac2-977d5d76b2f8 g.chr2:179730518G>A uc002unf.1 - 7 1032 c.975C>T c.(973-975)TGC>TGT p.C325C NM_173648 NP_775919 Q6ZP82 CC141_HUMAN coiled-coil domain containing 141 325 Potential. protein binding ovary(7)|pancreas(2)|skin(1) 10 OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147) CTCTCATGGCGCAGTACTCCA 0.532 NEU2 4759 broad.mit.edu 37 2 233899574 233899574 + Missense_Mutation SNP C T T TCGA-14-1823-01A-01W-0643-08 TCGA-14-1823-10A-01W-0644-08 Somatic Phase_I Capture Illumina GAIIx 1c3ddf6a-e496-4b87-833b-084d814b6876 4ba7b443-5214-4348-bac2-977d5d76b2f8 g.chr2:233899574C>T uc010zmn.1 + 2 950 c.950C>T c.(949-951)GCC>GTC p.A317V NM_005383 NP_005374 Q9Y3R4 NEUR2_HUMAN neuraminidase 2 317 exo-alpha-sialidase activity 0 Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0271)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0839) Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0488) CGACCTCCAGCCCCTGAGGCC 0.672 ANO7 50636 broad.mit.edu 37 2 242149970 242149970 + Missense_Mutation SNP G A A rs148576854 TCGA-14-1823-01A-01W-0643-08 TCGA-14-1823-10A-01W-0644-08 Somatic Phase_I Capture Illumina GAIIx 1c3ddf6a-e496-4b87-833b-084d814b6876 4ba7b443-5214-4348-bac2-977d5d76b2f8 g.chr2:242149970G>A uc002wax.2 + 15 1811 c.1708G>A c.(1708-1710)GTC>ATC p.V570I NM_001001891 NP_001001891 Q6IWH7 ANO7_HUMAN transmembrane protein 16G isoform NGEP long 570 Helical; (Potential). cell junction|chloride channel complex|cytosol chloride channel activity pancreas(2)|central_nervous_system(1) 3 CCTGGCCCACGTCCTGACACG 0.622 HNF4A 3172 broad.mit.edu 37 20 43048412 43048412 + Missense_Mutation SNP G A A TCGA-14-1823-01A-01W-0643-08 TCGA-14-1823-10A-01W-0644-08 Somatic Phase_I Capture Illumina GAIIx 1c3ddf6a-e496-4b87-833b-084d814b6876 4ba7b443-5214-4348-bac2-977d5d76b2f8 g.chr20:43048412G>A uc002xma.2 + 7 877 c.788G>A c.(787-789)CGG>CAG p.R263Q HNF4A_uc002xlt.2_Missense_Mutation_p.R241Q|HNF4A_uc002xlu.2_Missense_Mutation_p.R241Q|HNF4A_uc002xlv.2_Missense_Mutation_p.R241Q|HNF4A_uc002xly.2_Missense_Mutation_p.R263Q|HNF4A_uc002xlz.2_Missense_Mutation_p.R263Q|HNF4A_uc010ggq.2_Missense_Mutation_p.R256Q NM_000457 NP_000448 P41235 HNF4A_HUMAN hepatocyte nuclear factor 4 alpha isoform b 263 blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process cytoplasm activating transcription factor binding|protein homodimerization activity|receptor binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding ovary(1)|lung(1)|skin(1) 3 Myeloproliferative disorder(115;0.0122) COAD - Colon adenocarcinoma(18;0.00189) GAGATGAGCCGGGTGTCCATA 0.572 PABPC1L 80336 broad.mit.edu 37 20 43545422 43545422 + Missense_Mutation SNP G A A TCGA-14-1823-01A-01W-0643-08 TCGA-14-1823-10A-01W-0644-08 Somatic Phase_I Capture Illumina GAIIx 1c3ddf6a-e496-4b87-833b-084d814b6876 4ba7b443-5214-4348-bac2-977d5d76b2f8 g.chr20:43545422G>A uc010ggv.1 + 3 495 c.413G>A c.(412-414)CGG>CAG p.R138Q PABPC1L_uc010zwq.1_RNA NM_001124756 NP_001118228 Q4VXU2 PAP1L_HUMAN poly(A)-binding protein, cytoplasmic 1-like 138 RRM 2. nucleotide binding|RNA binding ovary(1) 1 CATGGCTCCCGGGGTTTCGGC 0.557 RBPJL 11317 broad.mit.edu 37 20 43938206 43938206 + Splice_Site SNP G T T TCGA-14-1823-01A-01W-0643-08 TCGA-14-1823-10A-01W-0644-08 Somatic Phase_I Capture Illumina GAIIx 1c3ddf6a-e496-4b87-833b-084d814b6876 4ba7b443-5214-4348-bac2-977d5d76b2f8 g.chr20:43938206G>T uc002xns.2 + 3 204 c.132_splice c.e3-1 p.R44_splice MATN4_uc002xnn.2_5'Flank|MATN4_uc002xno.2_5'Flank|MATN4_uc002xnp.2_5'Flank|MATN4_uc002xnr.1_5'Flank|RBPJL_uc002xnt.2_Splice_Site_p.R44_splice NM_014276 NP_055091 Q9UBG7 RBPJL_HUMAN recombining binding protein L signal transduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 Myeloproliferative disorder(115;0.0122) CCTACTCCCAGGTCATCCCCA 0.607 OGG1 4968 broad.mit.edu 37 3 9798237 9798237 + Missense_Mutation SNP G A A TCGA-14-1823-01A-01W-0643-08 TCGA-14-1823-10A-01W-0644-08 Somatic Phase_I Capture Illumina GAIIx 1c3ddf6a-e496-4b87-833b-084d814b6876 4ba7b443-5214-4348-bac2-977d5d76b2f8 g.chr3:9798237G>A uc003bsi.2 + 5 1173 c.830G>A c.(829-831)CGT>CAT p.R277H OGG1_uc003bsh.2_Missense_Mutation_p.R277H|OGG1_uc003bsj.2_Missense_Mutation_p.R277H|OGG1_uc003bsk.2_Missense_Mutation_p.R277H|OGG1_uc003bsl.2_Missense_Mutation_p.R277H|OGG1_uc003bsm.2_Missense_Mutation_p.R277H|OGG1_uc003bsn.2_Intron|OGG1_uc003bso.2_Intron|OGG1_uc003bsp.1_Missense_Mutation_p.R42H|OGG1_uc010hcm.1_Intron|OGG1_uc003bsq.1_Intron|OGG1_uc003bsr.1_Missense_Mutation_p.R42H NM_002542 NP_002533 O15527 OGG1_HUMAN 8-oxoguanine DNA-glycosylase 1 isoform 1a 277 depurination|nucleotide-excision repair|regulation of protein import into nucleus, translocation|regulation of transcription, DNA-dependent|response to oxidative stress|response to radiation mitochondrion|nuclear matrix|nuclear speck damaged DNA binding|endonuclease activity|oxidized purine base lesion DNA N-glycosylase activity|protein binding 0 Medulloblastoma(99;0.227) ATTGCCCAACGTGACTACAGC 0.602 BER_DNA_glycosylases NKIRAS1 28512 broad.mit.edu 37 3 23942514 23942514 + Missense_Mutation SNP C A A TCGA-14-1823-01A-01W-0643-08 TCGA-14-1823-10A-01W-0644-08 Somatic Phase_I Capture Illumina GAIIx 1c3ddf6a-e496-4b87-833b-084d814b6876 4ba7b443-5214-4348-bac2-977d5d76b2f8 g.chr3:23942514C>A uc003ccj.2 - 4 523 c.121G>T c.(121-123)GAT>TAT p.D41Y NKIRAS1_uc003cck.2_Missense_Mutation_p.D41Y|NKIRAS1_uc003ccl.2_Missense_Mutation_p.D41Y|NKIRAS1_uc003ccm.2_Missense_Mutation_p.D41Y NM_020345 NP_065078 Q9NYS0 KBRS1_HUMAN kappa B-ras 1 41 Effector region. I-kappaB kinase/NF-kappaB cascade|small GTPase mediated signal transduction cytoplasm GTP binding|GTPase activity 0 ATGTATACATCTTCCATTGTT 0.413 ACTR8 93973 broad.mit.edu 37 3 53909976 53909976 + Missense_Mutation SNP G A A TCGA-14-1823-01A-01W-0643-08 TCGA-14-1823-10A-01W-0644-08 Somatic Phase_I Capture Illumina GAIIx 1c3ddf6a-e496-4b87-833b-084d814b6876 4ba7b443-5214-4348-bac2-977d5d76b2f8 g.chr3:53909976G>A uc003dhd.2 - 7 969 c.910C>T c.(910-912)CGG>TGG p.R304W ACTR8_uc003dhb.2_Missense_Mutation_p.R54C|ACTR8_uc003dhc.2_Missense_Mutation_p.R193W NM_022899 NP_075050 Q9H981 ARP8_HUMAN actin-related protein 8 304 cell division|DNA recombination|DNA repair|mitosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent Ino80 complex protein binding ovary(1)|central_nervous_system(1) 2 BRCA - Breast invasive adenocarcinoma(193;0.000143)|KIRC - Kidney renal clear cell carcinoma(284;0.00544)|Kidney(284;0.00607)|OV - Ovarian serous cystadenocarcinoma(275;0.111) GTTCCTTACCGAGTATTCCGA 0.433 EPHA6 285220 broad.mit.edu 37 3 97167503 97167503 + Missense_Mutation SNP A T T TCGA-14-1823-01A-01W-0643-08 TCGA-14-1823-10A-01W-0644-08 Somatic Phase_I Capture Illumina GAIIx 1c3ddf6a-e496-4b87-833b-084d814b6876 4ba7b443-5214-4348-bac2-977d5d76b2f8 g.chr3:97167503A>T uc010how.1 + 7 1866 c.1823A>T c.(1822-1824)CAC>CTC p.H608L EPHA6_uc011bgo.1_RNA|EPHA6_uc011bgp.1_5'UTR|EPHA6_uc003drs.3_5'UTR|EPHA6_uc003drr.3_5'UTR|EPHA6_uc003drt.2_5'UTR|EPHA6_uc010hox.1_RNA NM_001080448 NP_001073917 Q9UF33 EPHA6_HUMAN EPH receptor A6 isoform a 513 Fibronectin type-III 2.|Extracellular (Potential). integral to plasma membrane ATP binding|ephrin receptor activity stomach(5)|lung(4)|central_nervous_system(3)|breast(1)|skin(1)|ovary(1)|kidney(1) 16 TATGTATTTCACATCCGAGTG 0.448 MORC1 27136 broad.mit.edu 37 3 108698509 108698509 + Missense_Mutation SNP A T T TCGA-14-1823-01A-01W-0643-08 TCGA-14-1823-10A-01W-0644-08 Somatic Phase_I Capture Illumina GAIIx 1c3ddf6a-e496-4b87-833b-084d814b6876 4ba7b443-5214-4348-bac2-977d5d76b2f8 g.chr3:108698509A>T uc003dxl.2 - 24 2417 c.2330T>A c.(2329-2331)CTC>CAC p.L777H MORC1_uc011bhn.1_Missense_Mutation_p.L756H NM_014429 NP_055244 Q86VD1 MORC1_HUMAN MORC family CW-type zinc finger 1 777 cell differentiation|multicellular organismal development|spermatogenesis nucleus ATP binding|zinc ion binding ovary(3)|skin(3)|breast(2) 8 CGGCACATTGAGCAAGCTGAG 0.368 UGT2A3 79799 broad.mit.edu 37 4 69796959 69796959 + Missense_Mutation SNP A C C TCGA-14-1823-01A-01W-0643-08 TCGA-14-1823-10A-01W-0644-08 Somatic Phase_I Capture Illumina GAIIx 1c3ddf6a-e496-4b87-833b-084d814b6876 4ba7b443-5214-4348-bac2-977d5d76b2f8 g.chr4:69796959A>C uc003hef.2 - 4 1029 c.998T>G c.(997-999)GTG>GGG p.V333G UGT2A3_uc010ihp.1_RNA NM_024743 NP_079019 Q6UWM9 UD2A3_HUMAN UDP glucuronosyltransferase 2 family, 333 Extracellular (Potential). integral to membrane glucuronosyltransferase activity ovary(1)|skin(1) 2 CCTCCATAACACCTACGGAAG 0.373 DDX60 55601 broad.mit.edu 37 4 169196591 169196591 + Missense_Mutation SNP G A A TCGA-14-1823-01A-01W-0643-08 TCGA-14-1823-10A-01W-0644-08 Somatic Phase_I Capture Illumina GAIIx 1c3ddf6a-e496-4b87-833b-084d814b6876 4ba7b443-5214-4348-bac2-977d5d76b2f8 g.chr4:169196591G>A uc003irp.2 - 16 2501 c.2209C>T c.(2209-2211)CGG>TGG p.R737W NM_017631 NP_060101 Q8IY21 DDX60_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 60 737 ATP binding|ATP-dependent helicase activity|RNA binding p.R737W(2) ovary(1)|central_nervous_system(1)|pancreas(1) 3 Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132) GBM - Glioblastoma multiforme(119;0.0485) AGTTGGAACCGAGCTGGCCCA 0.393 KCNQ5 56479 broad.mit.edu 37 6 73713705 73713705 + Missense_Mutation SNP G T T TCGA-14-1823-01A-01W-0643-08 TCGA-14-1823-10A-01W-0644-08 Somatic Phase_I Capture Illumina GAIIx 1c3ddf6a-e496-4b87-833b-084d814b6876 4ba7b443-5214-4348-bac2-977d5d76b2f8 g.chr6:73713705G>T uc003pgk.2 + 2 820 c.473G>T c.(472-474)AGT>ATT p.S158I KCNQ5_uc003pgj.3_Missense_Mutation_p.S158I|KCNQ5_uc011dyh.1_Missense_Mutation_p.S158I|KCNQ5_uc011dyi.1_Missense_Mutation_p.S158I|KCNQ5_uc010kat.2_Missense_Mutation_p.S158I|KCNQ5_uc011dyj.1_Missense_Mutation_p.S158I|KCNQ5_uc011dyk.1_5'UTR NM_019842 NP_062816 Q9NR82 KCNQ5_HUMAN potassium voltage-gated channel, KQT-like 158 Helical; Name=Segment S2; (Potential). protein complex assembly|synaptic transmission voltage-gated potassium channel complex inward rectifier potassium channel activity ovary(4)|large_intestine(2)|skin(1) 7 all_epithelial(107;0.116)|Lung NSC(302;0.219) COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583) TTGGCCTCAAGTTGCCTCTTG 0.358 COL12A1 1303 broad.mit.edu 37 6 75858174 75858174 + Missense_Mutation SNP C T T TCGA-14-1823-01A-01W-0643-08 TCGA-14-1823-10A-01W-0644-08 Somatic Phase_I Capture Illumina GAIIx 1c3ddf6a-e496-4b87-833b-084d814b6876 4ba7b443-5214-4348-bac2-977d5d76b2f8 g.chr6:75858174C>T uc003phs.2 - 22 4353 c.4187G>A c.(4186-4188)CGA>CAA p.R1396Q COL12A1_uc003pht.2_Missense_Mutation_p.R232Q NM_004370 NP_004361 Q99715 COCA1_HUMAN collagen, type XII, alpha 1 long isoform 1396 Fibronectin type-III 9. cell adhesion|collagen fibril organization|skeletal system development collagen type XII|extracellular space extracellular matrix structural constituent conferring tensile strength ovary(6)|large_intestine(1)|breast(1)|skin(1) 9 ACGATGGGTTCGCTCAGAAAT 0.398 BVES 11149 broad.mit.edu 37 6 105573416 105573416 + Missense_Mutation SNP C T T TCGA-14-1823-01A-01W-0643-08 TCGA-14-1823-10A-01W-0644-08 Somatic Phase_I Capture Illumina GAIIx 1c3ddf6a-e496-4b87-833b-084d814b6876 4ba7b443-5214-4348-bac2-977d5d76b2f8 g.chr6:105573416C>T uc003pqw.2 - 4 546 c.389G>A c.(388-390)CGA>CAA p.R130Q BVES_uc003pqx.2_Missense_Mutation_p.R130Q|BVES_uc003pqy.2_Missense_Mutation_p.R130Q NM_147147 NP_671488 Q8NE79 POPD1_HUMAN blood vessel epicardial substance isoform 5 130 Cytoplasmic (Potential). epithelial cell-cell adhesion|muscle organ development|positive regulation of locomotion|positive regulation of receptor recycling|regulation of Cdc42 GTPase activity|regulation of cell shape|regulation of Rac GTPase activity|substrate adhesion-dependent cell spreading|vesicle-mediated transport integral to membrane|lateral plasma membrane|tight junction structural molecule activity 0 all_cancers(87;2.83e-05)|Acute lymphoblastic leukemia(125;1.95e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0101)|Colorectal(196;0.204)|Lung NSC(302;0.238) TTCAAACAATCGCCGGTACAT 0.443 T 6862 broad.mit.edu 37 6 166571970 166571970 + Missense_Mutation SNP C T T TCGA-14-1823-01A-01W-0643-08 TCGA-14-1823-10A-01W-0644-08 Somatic Phase_I Capture Illumina GAIIx 1c3ddf6a-e496-4b87-833b-084d814b6876 4ba7b443-5214-4348-bac2-977d5d76b2f8 g.chr6:166571970C>T uc003quu.1 - 9 1634 c.1141G>A c.(1141-1143)GCG>ACG p.A381T T_uc003qut.1_Missense_Mutation_p.A382T|T_uc003quv.1_Missense_Mutation_p.A323T NM_003181 NP_003172 O15178 BRAC_HUMAN transcription factor T 381 anterior/posterior axis specification, embryo|mesoderm development|primitive streak formation nucleus sequence-specific DNA binding transcription factor activity ovary(1)|pancreas(1) 2 Prostate(117;4.48e-07)|Ovarian(120;1.78e-06)|Breast(66;2.54e-06)|Lung SC(201;0.0225)|Esophageal squamous(34;0.0559) OV - Ovarian serous cystadenocarcinoma(33;1.09e-113)|GBM - Glioblastoma multiforme(31;1.51e-108)|BRCA - Breast invasive adenocarcinoma(81;8.45e-09)|LUAD - Lung adenocarcinoma(999;0.0407) GTGTAGTGCGCGGGGGAGCCC 0.711 Chordoma_Familial_Clustering_of FERD3L 222894 broad.mit.edu 37 7 19184907 19184907 + Missense_Mutation SNP G A A TCGA-14-1823-01A-01W-0643-08 TCGA-14-1823-10A-01W-0644-08 Somatic Phase_I Capture Illumina GAIIx 1c3ddf6a-e496-4b87-833b-084d814b6876 4ba7b443-5214-4348-bac2-977d5d76b2f8 g.chr7:19184907G>A uc003suo.1 - 1 138 c.79C>T c.(79-81)CGC>TGC p.R27C uc003sun.1_RNA NM_152898 NP_690862 Q96RJ6 FER3L_HUMAN nephew of atonal 3 27 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding large_intestine(1) 1 AGGAGAGGGCGTCTCGGGGAG 0.652 UPP1 7378 broad.mit.edu 37 7 48139333 48139333 + Missense_Mutation SNP C A A TCGA-14-1823-01A-01W-0643-08 TCGA-14-1823-10A-01W-0644-08 Somatic Phase_I Capture Illumina GAIIx 1c3ddf6a-e496-4b87-833b-084d814b6876 4ba7b443-5214-4348-bac2-977d5d76b2f8 g.chr7:48139333C>A uc003toj.2 + 5 640 c.111C>A c.(109-111)TTC>TTA p.F37L UPP1_uc003tok.2_Missense_Mutation_p.F37L|UPP1_uc003tol.2_Missense_Mutation_p.F37L|UPP1_uc011kcg.1_Missense_Mutation_p.F37L|UPP1_uc011kch.1_Intron|UPP1_uc003ton.2_Intron|UPP1_uc003too.2_Intron NM_181597 NP_853628 Q16831 UPP1_HUMAN uridine phosphorylase 1 37 nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage cytosol uridine phosphorylase activity 0 TCTATCATTTCAATCTCACCA 0.393 UPP1 7378 broad.mit.edu 37 7 48146585 48146585 + Missense_Mutation SNP G T T TCGA-14-1823-01A-01W-0643-08 TCGA-14-1823-10A-01W-0644-08 Somatic Phase_I Capture Illumina GAIIx 1c3ddf6a-e496-4b87-833b-084d814b6876 4ba7b443-5214-4348-bac2-977d5d76b2f8 g.chr7:48146585G>T uc003toj.2 + 8 1081 c.552G>T c.(550-552)AAG>AAT p.K184N UPP1_uc003tok.2_Missense_Mutation_p.K184N|UPP1_uc003tol.2_Missense_Mutation_p.K184N|UPP1_uc011kch.1_5'UTR|UPP1_uc003ton.2_Missense_Mutation_p.K47N|UPP1_uc003too.2_Missense_Mutation_p.K47N NM_181597 NP_853628 Q16831 UPP1_HUMAN uridine phosphorylase 1 184 nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage cytosol uridine phosphorylase activity 0 ACCTTAACAAGAAGCTGGTGC 0.537 EGFR 1956 broad.mit.edu 37 7 55221821 55221821 + Missense_Mutation SNP G A A TCGA-14-1823-01A-01W-0643-08 TCGA-14-1823-10A-01W-0644-08 Somatic Phase_I Capture Illumina GAIIx 1c3ddf6a-e496-4b87-833b-084d814b6876 4ba7b443-5214-4348-bac2-977d5d76b2f8 g.chr7:55221821G>A uc003tqk.2 + 7 1111 c.865G>A c.(865-867)GCC>ACC p.A289T EGFR_uc003tqh.2_Missense_Mutation_p.A289T|EGFR_uc003tqi.2_Missense_Mutation_p.A289T|EGFR_uc003tqj.2_Missense_Mutation_p.A289T|EGFR_uc010kzg.1_Missense_Mutation_p.A244T|EGFR_uc011kco.1_Missense_Mutation_p.A236T|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank NM_005228 NP_005219 P00533 EGFR_HUMAN epidermal growth factor receptor isoform a 289 Approximate.|Extracellular (Potential). activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity p.A289V(20)|p.V30_R297>G(5)|p.A289T(3)|p.A289D(3) lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1) 9571 all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318) GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607) Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072) CAGCTTTGGTGCCACCTGCGT 0.592 8 A|O|Mis glioma|NSCLC NSCLC Lung_Cancer_Familial_Clustering_of TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08) FZD1 8321 broad.mit.edu 37 7 90894669 90894669 + Missense_Mutation SNP A T T TCGA-14-1823-01A-01W-0643-08 TCGA-14-1823-10A-01W-0644-08 Somatic Phase_I Capture Illumina GAIIx 1c3ddf6a-e496-4b87-833b-084d814b6876 4ba7b443-5214-4348-bac2-977d5d76b2f8 g.chr7:90894669A>T uc003ula.2 + 1 887 c.474A>T c.(472-474)AAA>AAT p.K158N NM_003505 NP_003496 Q9UP38 FZD1_HUMAN frizzled 1 precursor 158 FZ.|Extracellular (Potential). autocrine signaling|axonogenesis|brain development|canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|embryo development|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|lung alveolus development|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to drug|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway apical part of cell|cell surface|cytoplasm|integral to membrane|neuron projection membrane G-protein coupled receptor activity|PDZ domain binding|receptor binding|Wnt receptor activity|Wnt-protein binding 0 all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215) STAD - Stomach adenocarcinoma(171;0.0134) CTCTAGTGAAAGTGCAGTGTT 0.632 MUC17 140453 broad.mit.edu 37 7 100685376 100685376 + Missense_Mutation SNP C G G TCGA-14-1823-01A-01W-0643-08 TCGA-14-1823-10A-01W-0644-08 Somatic Phase_I Capture Illumina GAIIx 1c3ddf6a-e496-4b87-833b-084d814b6876 4ba7b443-5214-4348-bac2-977d5d76b2f8 g.chr7:100685376C>G uc003uxp.1 + 3 10732 c.10679C>G c.(10678-10680)ACT>AGT p.T3560S MUC17_uc010lho.1_RNA NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN mucin 17 precursor 3560 Extracellular (Potential).|Ser-rich.|59 X approximate tandem repeats. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity ovary(14)|skin(8)|breast(3)|lung(2) 27 Lung NSC(181;0.136)|all_lung(186;0.182) TCTCCAGCAACTCTTCAGGTC 0.478 DGKI 9162 broad.mit.edu 37 7 137263039 137263039 + Nonsense_Mutation SNP G A A TCGA-14-1823-01A-01W-0643-08 TCGA-14-1823-10A-01W-0644-08 Somatic Phase_I Capture Illumina GAIIx 1c3ddf6a-e496-4b87-833b-084d814b6876 4ba7b443-5214-4348-bac2-977d5d76b2f8 g.chr7:137263039G>A uc003vtt.2 - 16 1676 c.1675C>T c.(1675-1677)CGA>TGA p.R559* DGKI_uc003vtu.2_Nonsense_Mutation_p.R259* NM_004717 NP_004708 O75912 DGKI_HUMAN diacylglycerol kinase, iota 559 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation nucleus|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding ovary(1)|kidney(1)|skin(1) 3 ATTTTATTTCGAAAACGACTG 0.338 PSD3 23362 broad.mit.edu 37 8 18432725 18432725 + Missense_Mutation SNP A G G TCGA-14-1823-01A-01W-0643-08 TCGA-14-1823-10A-01W-0644-08 Somatic Phase_I Capture Illumina GAIIx 1c3ddf6a-e496-4b87-833b-084d814b6876 4ba7b443-5214-4348-bac2-977d5d76b2f8 g.chr8:18432725A>G uc003wza.2 - 13 2655 c.2552T>C c.(2551-2553)TTG>TCG p.L851S PSD3_uc003wyx.3_Missense_Mutation_p.L180S|PSD3_uc003wyy.2_Missense_Mutation_p.L317S|PSD3_uc003wyz.2_Missense_Mutation_p.L152S NM_015310 NP_056125 Q9NYI0 PSD3_HUMAN ADP-ribosylation factor guanine nucleotide 852 PH. regulation of ARF protein signal transduction cell junction|cytoplasm|postsynaptic density|postsynaptic membrane ARF guanyl-nucleotide exchange factor activity ovary(3) 3 Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183) CTTGGATGCCAATGCGTGGTG 0.428 LGI3 203190 broad.mit.edu 37 8 22006477 22006477 + Silent SNP C A A TCGA-14-1823-01A-01W-0643-08 TCGA-14-1823-10A-01W-0644-08 Somatic Phase_I Capture Illumina GAIIx 1c3ddf6a-e496-4b87-833b-084d814b6876 4ba7b443-5214-4348-bac2-977d5d76b2f8 g.chr8:22006477C>A uc003xav.2 - 8 1132 c.843G>T c.(841-843)GTG>GTT p.V281V LGI3_uc010ltu.2_Silent_p.V257V NM_139278 NP_644807 Q8N145 LGI3_HUMAN leucine-rich repeat LGI family, member 3 281 EAR 2. exocytosis cell junction|extracellular region|synaptic vesicle|synaptosome ovary(1) 1 Colorectal(74;0.00189)|COAD - Colon adenocarcinoma(73;0.0612)|READ - Rectum adenocarcinoma(644;0.0999) GCTTGCAGTGCACTGCAGAGG 0.627 SNAI2 6591 broad.mit.edu 37 8 49831516 49831516 + Missense_Mutation SNP G T T TCGA-14-1823-01A-01W-0643-08 TCGA-14-1823-10A-01W-0644-08 Somatic Phase_I Capture Illumina GAIIx 1c3ddf6a-e496-4b87-833b-084d814b6876 4ba7b443-5214-4348-bac2-977d5d76b2f8 g.chr8:49831516G>T uc003xqp.2 - 3 821 c.657C>A c.(655-657)AAC>AAA p.N219K NM_003068 NP_003059 O43623 SNAI2_HUMAN snail 2 219 C2H2-type 4. canonical Wnt receptor signaling pathway|ectoderm and mesoderm interaction|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 all_cancers(86;0.0368)|all_epithelial(80;0.000624)|Lung NSC(129;0.0019)|all_lung(136;0.00502) CAAATGCTCTGTTGCAGTGAG 0.433 ZFHX4 79776 broad.mit.edu 37 8 77763369 77763369 + Missense_Mutation SNP G C C TCGA-14-1823-01A-01W-0643-08 TCGA-14-1823-10A-01W-0644-08 Somatic Phase_I Capture Illumina GAIIx 1c3ddf6a-e496-4b87-833b-084d814b6876 4ba7b443-5214-4348-bac2-977d5d76b2f8 g.chr8:77763369G>C uc003yav.2 + 10 4464 c.4077G>C c.(4075-4077)TTG>TTC p.L1359F ZFHX4_uc003yau.1_Missense_Mutation_p.L1404F|ZFHX4_uc003yaw.1_Missense_Mutation_p.L1359F NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN zinc finger homeodomain 4 1359 C2H2-type 10. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(8)|large_intestine(4)|breast(2)|lung(1) 15 BRCA - Breast invasive adenocarcinoma(89;0.0895) ATTGTAGCTTGGCTTTCAAAA 0.453 HNSCC(33;0.089) LRP12 29967 broad.mit.edu 37 8 105503293 105503293 + Missense_Mutation SNP G C C TCGA-14-1823-01A-01W-0643-08 TCGA-14-1823-10A-01W-0644-08 Somatic Phase_I Capture Illumina GAIIx 1c3ddf6a-e496-4b87-833b-084d814b6876 4ba7b443-5214-4348-bac2-977d5d76b2f8 g.chr8:105503293G>C uc003yma.2 - 7 2283 c.2188C>G c.(2188-2190)CTC>GTC p.L730V LRP12_uc003ymb.2_Missense_Mutation_p.L711V|LRP12_uc003ylz.2_Missense_Mutation_p.L136V NM_013437 NP_038465 Q9Y561 LRP12_HUMAN low density lipoprotein-related protein 12 730 Cytoplasmic (Potential). endocytosis|regulation of growth coated pit|integral to plasma membrane low-density lipoprotein receptor activity|protein binding 0 OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229) ATACGACTGAGTGCACTTGTA 0.493 NFX1 4799 broad.mit.edu 37 9 33351731 33351731 + Silent SNP G A A TCGA-14-1823-01A-01W-0643-08 TCGA-14-1823-10A-01W-0644-08 Somatic Phase_I Capture Illumina GAIIx 1c3ddf6a-e496-4b87-833b-084d814b6876 4ba7b443-5214-4348-bac2-977d5d76b2f8 g.chr9:33351731G>A uc003zsq.2 + 16 2659 c.2598G>A c.(2596-2598)CCG>CCA p.P866P SUGT1P1_uc010mjq.1_Intron|NFX1_uc003zsp.1_Silent_p.P866P|NFX1_uc010mjr.1_Silent_p.P867P|NFX1_uc003zsr.2_Silent_p.P867P NM_002504 NP_002495 Q12986 NFX1_HUMAN nuclear transcription factor, X-box binding 1 866 NF-X1-type 8. inflammatory response|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleus DNA binding|ligase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1) 1 LUSC - Lung squamous cell carcinoma(29;0.00506) GBM - Glioblastoma multiforme(74;0.224) GTGGTCACCCGTGTATGGCAC 0.552 ANKRD20A3 441425 broad.mit.edu 37 9 67934791 67934794 + Frame_Shift_Del DEL AAAG - - TCGA-14-1823-01A-01W-0643-08 TCGA-14-1823-10A-01W-0644-08 Somatic Phase_I Capture Illumina GAIIx 1c3ddf6a-e496-4b87-833b-084d814b6876 4ba7b443-5214-4348-bac2-977d5d76b2f8 g.chr9:67934791_67934794delAAAG uc004aeu.2 + 4 673_676 c.561_564delAAAG c.(559-564)AAAAGGfs p.K187fs ANKRD20A3_uc010mnn.2_Frame_Shift_Del_p.K187fs NM_001012419 NP_001012419 Q5VUR7 A20A3_HUMAN ankyrin repeat domain 20 family, member A3 187_188 ANK 4. 0 TTTTATTGAAAAAGAAAGCAAGTT 0.309 VPS13A 23230 broad.mit.edu 37 9 79867155 79867155 + Silent SNP T C C TCGA-14-1823-01A-01W-0643-08 TCGA-14-1823-10A-01W-0644-08 Somatic Phase_I Capture Illumina GAIIx 1c3ddf6a-e496-4b87-833b-084d814b6876 4ba7b443-5214-4348-bac2-977d5d76b2f8 g.chr9:79867155T>C uc004akr.2 + 22 2435 c.2175T>C c.(2173-2175)GAT>GAC p.D725D VPS13A_uc004akp.3_Silent_p.D725D|VPS13A_uc004akq.3_Silent_p.D725D|VPS13A_uc004aks.2_Silent_p.D725D NM_033305 NP_150648 Q96RL7 VP13A_HUMAN vacuolar protein sorting 13A isoform A 725 Golgi to endosome transport|protein transport intracellular protein binding pancreas(3)|skin(3)|ovary(2)|large_intestine(1)|central_nervous_system(1) 10 ACTTAGGTGATAATTGGAGAG 0.343 C9orf125 84302 broad.mit.edu 37 9 104239089 104239089 + Missense_Mutation SNP C A A TCGA-14-1823-01A-01W-0643-08 TCGA-14-1823-10A-01W-0644-08 Somatic Phase_I Capture Illumina GAIIx 1c3ddf6a-e496-4b87-833b-084d814b6876 4ba7b443-5214-4348-bac2-977d5d76b2f8 g.chr9:104239089C>A uc004bbm.2 - 2 608 c.286G>T c.(286-288)GCC>TCC p.A96S uc004bbl.1_5'Flank NM_032342 NP_115718 Q9BRR3 CI125_HUMAN hypothetical protein LOC84302 96 integral to membrane 0 Acute lymphoblastic leukemia(62;0.0527) CGGGGGGTGGCCTGCCAGACA 0.592 NUP214 8021 broad.mit.edu 37 9 134022964 134022964 + Missense_Mutation SNP C G G TCGA-14-1823-01A-01W-0643-08 TCGA-14-1823-10A-01W-0644-08 Somatic Phase_I Capture Illumina GAIIx 1c3ddf6a-e496-4b87-833b-084d814b6876 4ba7b443-5214-4348-bac2-977d5d76b2f8 g.chr9:134022964C>G uc004cag.2 + 14 2144 c.2033C>G c.(2032-2034)TCT>TGT p.S678C NUP214_uc004cah.2_Missense_Mutation_p.S668C|NUP214_uc004cai.2_Missense_Mutation_p.S108C|NUP214_uc004caf.1_Missense_Mutation_p.S667C|NUP214_uc010mzf.2_Intron NM_005085 NP_005076 P35658 NU214_HUMAN nucleoporin 214kDa 678 11 X 5 AA approximate repeats. carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore|nucleoplasm protein binding breast(7)|lung(3)|skin(3)|ovary(2)|central_nervous_system(1) 16 all_hematologic(7;0.0028) Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256) AAGCCAGGCTCTCCCCAGGTA 0.433 T DEK|SET|ABL1 AML|T-ALL SSX1 6756 broad.mit.edu 37 X 48118025 48118025 + Missense_Mutation SNP A T T TCGA-14-1823-01A-01W-0643-08 TCGA-14-1823-10A-01W-0644-08 Somatic Phase_I Capture Illumina GAIIx 1c3ddf6a-e496-4b87-833b-084d814b6876 4ba7b443-5214-4348-bac2-977d5d76b2f8 g.chrX:48118025A>T uc004djb.1 + 4 330 c.239A>T c.(238-240)CAG>CTG p.Q80L NM_005635 NP_005626 Q16384 SSX1_HUMAN synovial sarcoma, X breakpoint 1 80 KRAB-related. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|transcription corepressor activity SS18/SSX1(1169) soft_tissue(1169) 1169 ACAGACTTCCAGGGGAATGAT 0.428 FOXP3 50943 broad.mit.edu 37 X 49113238 49113238 + Missense_Mutation SNP T A A TCGA-14-1823-01A-01W-0643-08 TCGA-14-1823-10A-01W-0644-08 Somatic Phase_I Capture Illumina GAIIx 1c3ddf6a-e496-4b87-833b-084d814b6876 4ba7b443-5214-4348-bac2-977d5d76b2f8 g.chrX:49113238T>A uc004dnf.3 - 6 805 c.617A>T c.(616-618)AAG>ATG p.K206M FOXP3_uc011mnb.1_Missense_Mutation_p.K229M|FOXP3_uc011mnc.1_Missense_Mutation_p.K206M|FOXP3_uc004dne.3_Missense_Mutation_p.K171M|FOXP3_uc010niq.1_Missense_Mutation_p.K171M NM_014009 NP_054728 Q9BZS1 FOXP3_HUMAN forkhead box P3 isoform a 206 C2H2-type. B cell homeostasis|cerebellum development|chromatin remodeling|embryo development|myeloid cell homeostasis|negative regulation of activated T cell proliferation|negative regulation of chronic inflammatory response|negative regulation of CREB transcription factor activity|negative regulation of cytokine secretion|negative regulation of histone acetylation|negative regulation of histone deacetylation|negative regulation of interferon-gamma biosynthetic process|negative regulation of interferon-gamma production|negative regulation of interleukin-10 production|negative regulation of interleukin-2 biosynthetic process|negative regulation of interleukin-2 production|negative regulation of interleukin-4 production|negative regulation of interleukin-5 production|negative regulation of interleukin-6 production|negative regulation of isotype switching to IgE isotypes|negative regulation of NF-kappaB transcription factor activity|negative regulation of T cell cytokine production|negative regulation of tumor necrosis factor production|pattern specification process|positive regulation of CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation|positive regulation of histone acetylation|positive regulation of immature T cell proliferation in thymus|positive regulation of peripheral T cell tolerance induction|positive regulation of T cell anergy|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transforming growth factor-beta1 production|post-embryonic development|regulation of isotype switching to IgG isotypes|response to virus|T cell homeostasis|T cell receptor signaling pathway|tolerance induction to self antigen cytoplasm|cytoplasm|nucleus|transcription factor complex chromatin binding|DNA bending activity|double-stranded DNA binding|histone acetyltransferase binding|histone deacetylase binding|NF-kappaB binding|NFAT protein binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription corepressor activity|zinc ion binding 0 Ovarian(276;0.236) TTCGAAGACCTTCTCACATCC 0.617 HUWE1 10075 broad.mit.edu 37 X 53590731 53590731 + Missense_Mutation SNP C T T TCGA-14-1823-01A-01W-0643-08 TCGA-14-1823-10A-01W-0644-08 Somatic Phase_I Capture Illumina GAIIx 1c3ddf6a-e496-4b87-833b-084d814b6876 4ba7b443-5214-4348-bac2-977d5d76b2f8 g.chrX:53590731C>T uc004dsp.2 - 52 7483 c.7081G>A c.(7081-7083)GGA>AGA p.G2361R HUWE1_uc004dsn.2_Missense_Mutation_p.G1185R NM_031407 NP_113584 Q7Z6Z7 HUWE1_HUMAN HECT, UBA and WWE domain containing 1 2361 Glu-rich. base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus DNA binding|protein binding|ubiquitin-protein ligase activity ovary(8)|large_intestine(4)|breast(4)|kidney(1) 17 TTCCCAGATCCGCCATCCCTC 0.453 AWAT2 158835 broad.mit.edu 37 X 69261810 69261810 + Missense_Mutation SNP C T T TCGA-14-1823-01A-01W-0643-08 TCGA-14-1823-10A-01W-0644-08 Somatic Phase_I Capture Illumina GAIIx 1c3ddf6a-e496-4b87-833b-084d814b6876 4ba7b443-5214-4348-bac2-977d5d76b2f8 g.chrX:69261810C>T uc004dxt.1 - 7 856 c.850G>A c.(850-852)GGG>AGG p.G284R NM_001002254 NP_001002254 Q6E213 AWAT2_HUMAN wax synthase 2 284 endoplasmic reticulum membrane|integral to membrane long-chain-alcohol O-fatty-acyltransferase activity 0 AGAGGCTCCCCGACTGCCAGG 0.502 OTUD6A 139562 broad.mit.edu 37 X 69282974 69282974 + Silent SNP C T T TCGA-14-1823-01A-01W-0643-08 TCGA-14-1823-10A-01W-0644-08 Somatic Phase_I Capture Illumina GAIIx 1c3ddf6a-e496-4b87-833b-084d814b6876 4ba7b443-5214-4348-bac2-977d5d76b2f8 g.chrX:69282974C>T uc004dxu.1 + 1 634 c.600C>T c.(598-600)TAC>TAT p.Y200Y NM_207320 NP_997203 Q7L8S5 OTU6A_HUMAN OTU domain containing 6A 200 OTU. lung(1)|skin(1) 2 CCTTCGGCTACGACGACTTCA 0.622 P2RY10 27334 broad.mit.edu 37 X 78216461 78216461 + Silent SNP C T T TCGA-14-1823-01A-01W-0643-08 TCGA-14-1823-10A-01W-0644-08 Somatic Phase_I Capture Illumina GAIIx 1c3ddf6a-e496-4b87-833b-084d814b6876 4ba7b443-5214-4348-bac2-977d5d76b2f8 g.chrX:78216461C>T uc004ede.2 + 4 813 c.444C>T c.(442-444)TAC>TAT p.Y148Y P2RY10_uc004edf.2_Silent_p.Y148Y NM_014499 NP_055314 O00398 P2Y10_HUMAN G-protein coupled purinergic receptor P2Y10 148 Cytoplasmic (Potential). integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled ovary(2)|lung(2)|breast(1) 5 AGCGTAGGTACGATGTGGGCA 0.498