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 KIAA1751 85452 broad.mit.edu 37 1 1900084 1900084 + Missense_Mutation SNP G A A rs150108692 by1000genomes TCGA-12-3653-01A-01D-1495-08 TCGA-12-3653-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx fdc52d48-828e-481f-ba1c-0264f1da38a5 6d1c37a3-4c31-404f-98b5-bc81876f4080 g.chr1:1900084G>A uc001aim.1 - 11 1391 c.1235C>T c.(1234-1236)ACG>ATG p.T412M KIAA1751_uc009vkz.1_Missense_Mutation_p.T412M NM_001080484 NP_001073953 Q9C0B2 K1751_HUMAN hypothetical protein LOC85452 412 pancreas(1) 1 all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217) Epithelial(90;8.79e-39)|OV - Ovarian serous cystadenocarcinoma(86;9.61e-25)|GBM - Glioblastoma multiforme(42;1.2e-07)|Colorectal(212;4.84e-05)|COAD - Colon adenocarcinoma(227;0.000214)|Kidney(185;0.00254)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205) CAGTGTGTACGTGTTGGTTGG 0.582 MTF1 4520 broad.mit.edu 37 1 38323155 38323155 + Missense_Mutation SNP T C C TCGA-12-3653-01A-01D-1495-08 TCGA-12-3653-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx fdc52d48-828e-481f-ba1c-0264f1da38a5 6d1c37a3-4c31-404f-98b5-bc81876f4080 g.chr1:38323155T>C uc001cce.1 - 2 317 c.176A>G c.(175-177)GAG>GGG p.E59G MTF1_uc009vvj.1_5'UTR NM_005955 NP_005946 Q14872 MTF1_HUMAN metal-regulatory transcription factor 1 59 nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|zinc ion binding ovary(1)|pancreas(1) 2 Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197) Myeloproliferative disorder(586;0.0255) ATCTTCATCCTCCAAAGTGCC 0.488 WDR65 149465 broad.mit.edu 37 1 43649424 43649424 + Missense_Mutation SNP G A A rs142914910 TCGA-12-3653-01A-01D-1495-08 TCGA-12-3653-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx fdc52d48-828e-481f-ba1c-0264f1da38a5 6d1c37a3-4c31-404f-98b5-bc81876f4080 g.chr1:43649424G>A uc001cip.1 + 4 758 c.637G>A c.(637-639)GTT>ATT p.V213I EBNA1BP2_uc001cio.2_Intron|WDR65_uc010ojz.1_Missense_Mutation_p.V202I|WDR65_uc001ciq.1_Missense_Mutation_p.V213I NM_152498 NP_689711 Q96MR6 WDR65_HUMAN WD repeat domain 65 213 WD 3. skin(1) 1 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) CAAGATTGTCGTTGGCACTGA 0.502 RAD54L 8438 broad.mit.edu 37 1 46726266 46726266 + Missense_Mutation SNP C T T rs149141765 TCGA-12-3653-01A-01D-1495-08 TCGA-12-3653-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx fdc52d48-828e-481f-ba1c-0264f1da38a5 6d1c37a3-4c31-404f-98b5-bc81876f4080 g.chr1:46726266C>T uc009vye.2 + 7 574 c.460C>T c.(460-462)CGG>TGG p.R154W RAD54L_uc001cpl.2_Missense_Mutation_p.R154W|RAD54L_uc001cpm.1_5'UTR NM_001142548 NP_001136020 Q92698 RAD54_HUMAN RAD54-like protein 154 meiosis nucleus ATP binding|DNA binding|helicase activity ovary(2)|skin(1) 3 Acute lymphoblastic leukemia(166;0.155) Breast(1374;0.0634) KIRC - Kidney renal clear cell carcinoma(1967;0.000896) TAAGGTTTTGCGGCCTCATCA 0.537 Direct_reversal_of_damage|Homologous_recombination LMX1A 4009 broad.mit.edu 37 1 165177351 165177351 + Nonsense_Mutation SNP G A A TCGA-12-3653-01A-01D-1495-08 TCGA-12-3653-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx fdc52d48-828e-481f-ba1c-0264f1da38a5 6d1c37a3-4c31-404f-98b5-bc81876f4080 g.chr1:165177351G>A uc001gcy.1 - 6 987 c.766C>T c.(766-768)CGA>TGA p.R256* LMX1A_uc001gcz.1_Nonsense_Mutation_p.R256*|LMX1A_uc001gcw.1_5'UTR|LMX1A_uc001gcx.1_Nonsense_Mutation_p.R7* NM_177398 NP_796372 Q8TE12 LMX1A_HUMAN LIM homeobox transcription factor 1, alpha 256 Gln-rich. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(3)|upper_aerodigestive_tract(1)|pancreas(1) 5 all_hematologic(923;0.248) TGCTGCTGTCGCCTGGCCAGC 0.562 Unknown 0 broad.mit.edu 37 10 49218498 49218498 + Silent SNP A G G TCGA-12-3653-01A-01D-1495-08 TCGA-12-3653-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx fdc52d48-828e-481f-ba1c-0264f1da38a5 6d1c37a3-4c31-404f-98b5-bc81876f4080 g.chr10:49218498A>G uc001jgd.2 - 8 1800 c.1641T>C c.(1639-1641)TCT>TCC p.S547S uc001jge.1_5'Flank RecName: Full=Arf-GAP, GTPase, ANK repeat and PH domain-containing protein 11; AltName: Full=Centaurin-gamma-like protein KIAA1975; GCTGGCCCAGAGACAGCTCAG 0.582 Unknown 0 broad.mit.edu 37 10 49218553 49218553 + Missense_Mutation SNP T C C rs77581903 TCGA-12-3653-01A-01D-1495-08 TCGA-12-3653-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx fdc52d48-828e-481f-ba1c-0264f1da38a5 6d1c37a3-4c31-404f-98b5-bc81876f4080 g.chr10:49218553T>C uc001jgd.2 - 8 1745 c.1586A>G c.(1585-1587)CAT>CGT p.H529R uc001jge.1_5'Flank RecName: Full=Arf-GAP, GTPase, ANK repeat and PH domain-containing protein 11; AltName: Full=Centaurin-gamma-like protein KIAA1975; ATATTTGGAATGGATCCAGCG 0.567 KIF20B 9585 broad.mit.edu 37 10 91498196 91498196 + Missense_Mutation SNP A G G TCGA-12-3653-01A-01D-1495-08 TCGA-12-3653-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx fdc52d48-828e-481f-ba1c-0264f1da38a5 6d1c37a3-4c31-404f-98b5-bc81876f4080 g.chr10:91498196A>G uc001kgs.1 + 20 3670 c.3598A>G c.(3598-3600)AAT>GAT p.N1200D KIF20B_uc001kgr.1_Missense_Mutation_p.N1160D|KIF20B_uc001kgt.1_Missense_Mutation_p.N411D|KIF20B_uc009xtw.1_RNA NM_016195 NP_057279 Q96Q89 KI20B_HUMAN M-phase phosphoprotein 1 1200 cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis centrosome|microtubule|nucleolus|nucleoplasm|spindle ATP binding|ATPase activity|microtubule motor activity|WW domain binding ovary(1)|pancreas(1)|skin(1) 3 GCTAGAAAGAAATTTGAAGGA 0.318 ZNF518A 9849 broad.mit.edu 37 10 97916083 97916083 + Missense_Mutation SNP C T T TCGA-12-3653-01A-01D-1495-08 TCGA-12-3653-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx fdc52d48-828e-481f-ba1c-0264f1da38a5 6d1c37a3-4c31-404f-98b5-bc81876f4080 g.chr10:97916083C>T uc001klp.2 + 6 861 c.4C>T c.(4-6)CCA>TCA p.P2S ZNF518A_uc001klo.1_Intron|ZNF518A_uc001klq.2_Missense_Mutation_p.P2S|ZNF518A_uc001klr.2_Missense_Mutation_p.P2S NM_014803 NP_055618 Q6AHZ1 Z518A_HUMAN zinc finger protein 518 2 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Colorectal(252;0.0815) Epithelial(162;4.23e-08)|all cancers(201;1.85e-06) TTAAATCATGCCATCTGAACA 0.308 HEPHL1 341208 broad.mit.edu 37 11 93826783 93826783 + Missense_Mutation SNP G A A TCGA-12-3653-01A-01D-1495-08 TCGA-12-3653-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx fdc52d48-828e-481f-ba1c-0264f1da38a5 6d1c37a3-4c31-404f-98b5-bc81876f4080 g.chr11:93826783G>A uc001pep.2 + 13 2568 c.2411G>A c.(2410-2412)CGA>CAA p.R804Q uc001pen.1_Intron NM_001098672 NP_001092142 Q6MZM0 HPHL1_HUMAN hephaestin-like 1 precursor 804 Plastocyanin-like 5.|Extracellular (Potential). copper ion transport integral to membrane copper ion binding|oxidoreductase activity ovary(3) 3 Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824) CGACCACCACGAGAGGAGCAC 0.483 PGR 5241 broad.mit.edu 37 11 100920711 100920711 + Missense_Mutation SNP C A A TCGA-12-3653-01A-01D-1495-08 TCGA-12-3653-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx fdc52d48-828e-481f-ba1c-0264f1da38a5 6d1c37a3-4c31-404f-98b5-bc81876f4080 g.chr11:100920711C>A uc001pgh.2 - 6 3180 c.2437G>T c.(2437-2439)GTT>TTT p.V813F PGR_uc001pgg.2_Missense_Mutation_p.V194F|PGR_uc001pgi.2_Missense_Mutation_p.V711F|PGR_uc009yww.1_Intron|PGR_uc001pgj.2_RNA|PGR_uc009ywx.1_RNA NM_000926 NP_000917 P06401 PRGR_HUMAN progesterone receptor 813 Steroid-binding. cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor cytoplasm|nucleoplasm enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding lung(1)|liver(1)|central_nervous_system(1)|pancreas(1) 4 Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014) LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164) Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396) TCTTGGCTAACTTGAAGCTTG 0.368 NTF3 4908 broad.mit.edu 37 12 5603770 5603770 + Silent SNP G A A TCGA-12-3653-01A-01D-1495-08 TCGA-12-3653-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx fdc52d48-828e-481f-ba1c-0264f1da38a5 6d1c37a3-4c31-404f-98b5-bc81876f4080 g.chr12:5603770G>A uc001qnl.3 + 1 473 c.390G>A c.(388-390)GCG>GCA p.A130A NTF3_uc001qnk.3_Silent_p.A143A NM_002527 NP_002518 P20783 NTF3_HUMAN neurotrophin 3 isoform 2 preproprotein 130 signal transduction extracellular region growth factor activity|neurotrophin receptor binding pancreas(1) 1 CCGTGGTGGCGAACAGAACAT 0.602 C1S 716 broad.mit.edu 37 12 7177641 7177641 + Missense_Mutation SNP G A A TCGA-12-3653-01A-01D-1495-08 TCGA-12-3653-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx fdc52d48-828e-481f-ba1c-0264f1da38a5 6d1c37a3-4c31-404f-98b5-bc81876f4080 g.chr12:7177641G>A uc001qsj.2 + 15 2472 c.1753G>A c.(1753-1755)GCA>ACA p.A585T C1S_uc001qsk.2_Missense_Mutation_p.A585T|C1S_uc001qsl.2_Missense_Mutation_p.A585T|C1S_uc009zfr.2_Missense_Mutation_p.A418T|C1S_uc009zfs.2_RNA NM_201442 NP_958850 P09871 C1S_HUMAN complement component 1, s subcomponent 585 Peptidase S1. complement activation, classical pathway|innate immune response|proteolysis extracellular region calcium ion binding|serine-type endopeptidase activity skin(1) 1 Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072) CCTCAAGGCGGCAAGGTTACC 0.512 SPPL2A 84888 broad.mit.edu 37 15 51041869 51041869 + Silent SNP A G G TCGA-12-3653-01A-01D-1495-08 TCGA-12-3653-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx fdc52d48-828e-481f-ba1c-0264f1da38a5 6d1c37a3-4c31-404f-98b5-bc81876f4080 g.chr15:51041869A>G uc001zyv.2 - 2 321 c.141T>C c.(139-141)CCT>CCC p.P47P NM_032802 NP_116191 Q8TCT8 PSL2_HUMAN signal peptide peptidase-like 2A 47 Cytoplasmic (Potential). integral to membrane aspartic-type endopeptidase activity 0 all cancers(107;0.000712)|GBM - Glioblastoma multiforme(94;0.00314) CTGTCCAATAAGGGTTATAAA 0.363 ACAP1 9744 broad.mit.edu 37 17 7250193 7250193 + Missense_Mutation SNP C A A TCGA-12-3653-01A-01D-1495-08 TCGA-12-3653-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx fdc52d48-828e-481f-ba1c-0264f1da38a5 6d1c37a3-4c31-404f-98b5-bc81876f4080 g.chr17:7250193C>A uc002ggd.2 + 13 1280 c.1074C>A c.(1072-1074)AGC>AGA p.S358R NM_014716 NP_055531 Q15027 ACAP1_HUMAN centaurin beta1 358 PH.|Required for formation of endosomal tubules when overexpressed with PIP5K1C. intracellular signal transduction|lipid metabolic process|protein transport|regulation of ARF GTPase activity ARF GTPase activator activity|phospholipase C activity|protein binding|zinc ion binding breast(2)|large_intestine(1) 3 TGCAGAGCAGCATTGCTTCTG 0.637 TNS4 84951 broad.mit.edu 37 17 38635988 38635988 + Silent SNP C T T TCGA-12-3653-01A-01D-1495-08 TCGA-12-3653-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx fdc52d48-828e-481f-ba1c-0264f1da38a5 6d1c37a3-4c31-404f-98b5-bc81876f4080 g.chr17:38635988C>T uc010cxb.2 - 10 2012 c.1848G>A c.(1846-1848)ACG>ACA p.T616T TNS4_uc002huu.3_Intron NM_032865 NP_116254 Q8IZW8 TENS4_HUMAN tensin 4 precursor 616 Phosphatase tensin-type. apoptosis|protein localization cytoplasm|cytoskeleton|focal adhesion actin binding large_intestine(1)|ovary(1)|central_nervous_system(1)|skin(1) 4 Breast(137;0.000496) STAD - Stomach adenocarcinoma(5;5.91e-05) CCACGGTGGGCGTGGGGAGGA 0.617 KRTAP4-11 653240 broad.mit.edu 37 17 39274446 39274446 + Missense_Mutation SNP C T T TCGA-12-3653-01A-01D-1495-08 TCGA-12-3653-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx fdc52d48-828e-481f-ba1c-0264f1da38a5 6d1c37a3-4c31-404f-98b5-bc81876f4080 g.chr17:39274446C>T uc002hvz.2 - 1 161 c.122G>A c.(121-123)CGC>CAC p.R41H NM_033059 NP_149048 Q9BYQ6 KR411_HUMAN keratin associated protein 4-11 41 27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC]. keratin filament 0 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000371) GCAGCTGGGGCGACAGTAGGT 0.667 ARL4D 379 broad.mit.edu 37 17 41477126 41477126 + Missense_Mutation SNP C T T TCGA-12-3653-01A-01D-1495-08 TCGA-12-3653-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx fdc52d48-828e-481f-ba1c-0264f1da38a5 6d1c37a3-4c31-404f-98b5-bc81876f4080 g.chr17:41477126C>T uc002idt.2 + 2 207 c.26C>T c.(25-27)GCG>GTG p.A9V NM_001661 NP_001652 P49703 ARL4D_HUMAN ADP-ribosylation factor-like 4D 9 protein secretion|small GTPase mediated signal transduction cytoplasm|nucleolus|plasma membrane GTP binding|GTPase activity|protein binding ovary(1) 1 Breast(137;0.00908) BRCA - Breast invasive adenocarcinoma(366;0.155) ACTGAGATGGCGCCCACTGCC 0.572 TUBB4 10382 broad.mit.edu 37 19 6495656 6495656 + Missense_Mutation SNP G A A TCGA-12-3653-01A-01D-1495-08 TCGA-12-3653-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx fdc52d48-828e-481f-ba1c-0264f1da38a5 6d1c37a3-4c31-404f-98b5-bc81876f4080 g.chr19:6495656G>A uc002mfg.1 - 4 961 c.854C>T c.(853-855)ACG>ATG p.T285M TUBB4_uc002mff.1_Missense_Mutation_p.T213M|MIR220B_hsa-mir-220b|MI0005529_5'Flank NM_006087 NP_006078 P04350 TBB4_HUMAN tubulin, beta 4 285 'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization cytosol|microtubule GTP binding|GTPase activity|protein binding|structural molecule activity ovary(2) 2 Hepatocellular(1079;0.00213)|Renal(1328;0.0183) Lung(535;3.23e-05)|STAD - Stomach adenocarcinoma(1328;8.24e-05)|GBM - Glioblastoma multiforme(1328;0.00839)|READ - Rectum adenocarcinoma(264;0.155) CTCGGGCACCGTCAGGGCCCG 0.672 VAV1 7409 broad.mit.edu 37 19 6843162 6843162 + Missense_Mutation SNP T C C TCGA-12-3653-01A-01D-1495-08 TCGA-12-3653-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx fdc52d48-828e-481f-ba1c-0264f1da38a5 6d1c37a3-4c31-404f-98b5-bc81876f4080 g.chr19:6843162T>C uc002mfu.1 + 22 2094 c.1997T>C c.(1996-1998)CTG>CCG p.L666P VAV1_uc010xjh.1_Missense_Mutation_p.L634P|VAV1_uc010dva.1_Missense_Mutation_p.L644P|VAV1_uc002mfv.1_Missense_Mutation_p.L611P NM_005428 NP_005419 P15498 VAV_HUMAN vav 1 guanine nucleotide exchange factor 666 apoptosis|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|T cell costimulation cytosol|plasma membrane metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity lung(4)|ovary(4)|breast(3)|central_nervous_system(2)|kidney(2)|skin(1) 16 CCTCAGGACCTGTCTGTTCAT 0.468 ZNF701 55762 broad.mit.edu 37 19 53086225 53086228 + Frame_Shift_Del DEL AAGG - - TCGA-12-3653-01A-01D-1495-08 TCGA-12-3653-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx fdc52d48-828e-481f-ba1c-0264f1da38a5 6d1c37a3-4c31-404f-98b5-bc81876f4080 g.chr19:53086225_53086228delAAGG uc002pzs.1 + 4 1040_1043 c.913_916delAAGG c.(913-918)AAGGTTfs p.K305fs ZNF701_uc010ydn.1_Frame_Shift_Del_p.K371fs NM_018260 NP_060730 Q9NV72 ZN701_HUMAN zinc finger protein 701 305_306 C2H2-type 2. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 OV - Ovarian serous cystadenocarcinoma(262;0.0105)|GBM - Glioblastoma multiforme(134;0.0402) TGAATGTGGCAAGGTTTTTAATCA 0.387 CDC42EP3 10602 broad.mit.edu 37 2 37873026 37873026 + Missense_Mutation SNP C A A TCGA-12-3653-01A-01D-1495-08 TCGA-12-3653-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx fdc52d48-828e-481f-ba1c-0264f1da38a5 6d1c37a3-4c31-404f-98b5-bc81876f4080 g.chr2:37873026C>A uc002rqi.1 - 2 1698 c.705G>T c.(703-705)CAG>CAT p.Q235H NM_006449 NP_006440 Q9UKI2 BORG2_HUMAN Cdc42 effector protein 3 235 regulation of cell shape|signal transduction actin cytoskeleton|cytoplasm|endomembrane system|membrane cytoskeletal regulatory protein binding 0 all_hematologic(82;0.172) CAAGATCAAGCTGCAGGGAGA 0.463 LRP1B 53353 broad.mit.edu 37 2 141130669 141130669 + Missense_Mutation SNP C T T rs145915063 TCGA-12-3653-01A-01D-1495-08 TCGA-12-3653-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx fdc52d48-828e-481f-ba1c-0264f1da38a5 6d1c37a3-4c31-404f-98b5-bc81876f4080 g.chr2:141130669C>T uc002tvj.1 - 69 11648 c.10676G>A c.(10675-10677)CGG>CAG p.R3559Q NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 3559 Extracellular (Potential).|LDL-receptor class A 27. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1) 50 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) ATTGGAACACCGGAACTGATC 0.368 TSP Lung(27;0.18) DFNB59 494513 broad.mit.edu 37 2 179323290 179323290 + Silent SNP C T T TCGA-12-3653-01A-01D-1495-08 TCGA-12-3653-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx fdc52d48-828e-481f-ba1c-0264f1da38a5 6d1c37a3-4c31-404f-98b5-bc81876f4080 g.chr2:179323290C>T uc002umi.3 + 5 959 c.603C>T c.(601-603)TTC>TTT p.F201F DFNB59_uc002umj.3_Silent_p.F201F NM_001042702 NP_001036167 Q0ZLH3 PJVK_HUMAN deafness, autosomal recessive 59 201 sensory perception of sound 0 OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.0159)|all cancers(119;0.0564) CTATTGTTTTCCCAGCACATA 0.343 ITSN1 6453 broad.mit.edu 37 21 35206635 35206635 + Missense_Mutation SNP G A A TCGA-12-3653-01A-01D-1495-08 TCGA-12-3653-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx fdc52d48-828e-481f-ba1c-0264f1da38a5 6d1c37a3-4c31-404f-98b5-bc81876f4080 g.chr21:35206635G>A uc002yta.1 + 28 3644 c.3376G>A c.(3376-3378)GGC>AGC p.G1126S DONSON_uc002ysn.1_Intron|ITSN1_uc002yth.3_RNA|ITSN1_uc002ysz.2_Missense_Mutation_p.G1050S|ITSN1_uc010gmg.2_Missense_Mutation_p.G1013S|ITSN1_uc010gmh.2_RNA|ITSN1_uc002ysw.2_Missense_Mutation_p.G1126S|ITSN1_uc010gmi.2_Missense_Mutation_p.G1089S|ITSN1_uc010gmj.2_Missense_Mutation_p.G1005S|ITSN1_uc002ysy.2_Missense_Mutation_p.G1121S|ITSN1_uc002ysx.2_Missense_Mutation_p.G1084S|ITSN1_uc002ytb.1_Missense_Mutation_p.G1121S|ITSN1_uc002ytd.2_RNA|ITSN1_uc010gmk.2_Missense_Mutation_p.G1018S|ITSN1_uc010gml.2_RNA|ITSN1_uc002ytj.2_Missense_Mutation_p.G1121S|ITSN1_uc010gmm.1_RNA|ITSN1_uc002yte.2_Missense_Mutation_p.G989S|ITSN1_uc002yti.1_RNA NM_003024 NP_003015 Q15811 ITSN1_HUMAN intersectin 1 isoform ITSN-l 1126 SH3 4. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity ovary(3)|skin(1) 4 GCGCCAGATAGGCTGGTTCCC 0.423 KRTAP10-3 386682 broad.mit.edu 37 21 45978262 45978262 + Missense_Mutation SNP C T T TCGA-12-3653-01A-01D-1495-08 TCGA-12-3653-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx fdc52d48-828e-481f-ba1c-0264f1da38a5 6d1c37a3-4c31-404f-98b5-bc81876f4080 g.chr21:45978262C>T uc002zfj.1 - 1 382 c.337G>A c.(337-339)GTC>ATC p.V113I C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron NM_198696 NP_941969 P60369 KR103_HUMAN keratin associated protein 10-3 113 9.|18 X 5 AA repeats of C-C-X(3). keratin filament skin(1) 1 ttgcagcagacgggcacacag 0.189 P4HTM 54681 broad.mit.edu 37 3 49042445 49042445 + Missense_Mutation SNP G A A TCGA-12-3653-01A-01D-1495-08 TCGA-12-3653-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx fdc52d48-828e-481f-ba1c-0264f1da38a5 6d1c37a3-4c31-404f-98b5-bc81876f4080 g.chr3:49042445G>A uc003cvg.2 + 6 1388 c.1039G>A c.(1039-1041)GCC>ACC p.A347T P4HTM_uc003cvh.2_Missense_Mutation_p.A347T|WDR6_uc011bbx.1_5'Flank|WDR6_uc003cvj.2_5'Flank|WDR6_uc011bby.1_5'Flank|WDR6_uc010hkn.2_5'Flank|WDR6_uc011bbz.1_5'Flank NM_177939 NP_808808 Q9NXG6 P4HTM_HUMAN hypoxia-inducible factor prolyl 4-hydroxylase 347 Lumenal (Potential).|Fe2OG dioxygenase. endoplasmic reticulum membrane|integral to membrane calcium ion binding|iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen skin(1)|pancreas(1) 2 Vitamin C(DB00126) CAAGCTGGTAGCCAACGAGTC 0.587 ATR 545 broad.mit.edu 37 3 142281611 142281611 + Missense_Mutation SNP C T T TCGA-12-3653-01A-01D-1495-08 TCGA-12-3653-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx fdc52d48-828e-481f-ba1c-0264f1da38a5 6d1c37a3-4c31-404f-98b5-bc81876f4080 g.chr3:142281611C>T uc003eux.3 - 4 755 c.633G>A c.(631-633)ATG>ATA p.M211I NM_001184 NP_001175 Q13535 ATR_HUMAN ataxia telangiectasia and Rad3 related protein 211 cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence PML body ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity lung(5)|skin(5)|breast(4)|ovary(3)|stomach(1)|central_nervous_system(1)|liver(1) 20 GAGTAAGAACCATTAATAAAG 0.318 Other_conserved_DNA_damage_response_genes YEATS2 55689 broad.mit.edu 37 3 183525871 183525871 + Frame_Shift_Del DEL G - - TCGA-12-3653-01A-01D-1495-08 TCGA-12-3653-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx fdc52d48-828e-481f-ba1c-0264f1da38a5 6d1c37a3-4c31-404f-98b5-bc81876f4080 g.chr3:183525871delG uc003fly.2 + 29 4260 c.4065delG c.(4063-4065)GTGfs p.V1355fs uc003fma.1_5'Flank NM_018023 NP_060493 Q9ULM3 YETS2_HUMAN YEATS domain containing 2 1355 histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter Ada2/Gcn5/Ada3 transcription activator complex TBP-class protein binding ovary(3)|large_intestine(1) 4 all_cancers(143;6.55e-10)|Ovarian(172;0.0303) all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22) ATGCGTCCGTGGTGGAGGACA 0.562 PCYT1A 5130 broad.mit.edu 37 3 195965646 195965646 + Silent SNP G A A TCGA-12-3653-01A-01D-1495-08 TCGA-12-3653-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx fdc52d48-828e-481f-ba1c-0264f1da38a5 6d1c37a3-4c31-404f-98b5-bc81876f4080 g.chr3:195965646G>A uc003fwg.2 - 10 1190 c.1017C>T c.(1015-1017)TCC>TCT p.S339S uc003fwf.1_5'Flank|PCYT1A_uc003fwh.2_Silent_p.S339S NM_005017 NP_005008 P49585 PCY1A_HUMAN choline phosphate cytidylyltransferase 1 alpha 339 3 X repeats. cytosol|soluble fraction choline-phosphate cytidylyltransferase activity 0 all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Epithelial(36;1.28e-24)|all cancers(36;1.01e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00259) Choline(DB00122) AAGTCTTGCCGGAGAAGGGCC 0.607 CDH9 1007 broad.mit.edu 37 5 26881547 26881547 + Missense_Mutation SNP G A A TCGA-12-3653-01A-01D-1495-08 TCGA-12-3653-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx fdc52d48-828e-481f-ba1c-0264f1da38a5 6d1c37a3-4c31-404f-98b5-bc81876f4080 g.chr5:26881547G>A uc003jgs.1 - 12 2237 c.2068C>T c.(2068-2070)CGG>TGG p.R690W CDH9_uc011cnv.1_Missense_Mutation_p.R283W NM_016279 NP_057363 Q9ULB4 CADH9_HUMAN cadherin 9, type 2 preproprotein 690 Cytoplasmic (Potential). adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(5)|skin(2)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1) 9 ATTACATCCCGTCTAAGTTTA 0.408 GDNF 2668 broad.mit.edu 37 5 37815950 37815950 + Missense_Mutation SNP C T T TCGA-12-3653-01A-01D-1495-08 TCGA-12-3653-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx fdc52d48-828e-481f-ba1c-0264f1da38a5 6d1c37a3-4c31-404f-98b5-bc81876f4080 g.chr5:37815950C>T uc011cpi.1 - 3 639 c.439G>A c.(439-441)GGC>AGC p.G147S GDNF_uc011cpc.1_Missense_Mutation_p.G69S|GDNF_uc011cpd.1_Missense_Mutation_p.G95S|GDNF_uc011cpe.1_Missense_Mutation_p.G121S|GDNF_uc011cpf.1_Missense_Mutation_p.G121S|GDNF_uc011cpg.1_Missense_Mutation_p.G164S|GDNF_uc011cph.1_Missense_Mutation_p.G138S NM_000514 NP_000505 P39905 GDNF_HUMAN glial cell derived neurotrophic factor isoform 1 147 adult locomotory behavior|anti-apoptosis|axon guidance|branching involved in ureteric bud morphogenesis|enteric nervous system development|mRNA stabilization|negative regulation of neuron apoptosis|neural crest cell migration|peristalsis|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of dopamine secretion|positive regulation of monooxygenase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of ureteric bud formation|postganglionic parasympathetic nervous system development|regulation of dopamine uptake|signal transduction|sympathetic nervous system development extracellular region growth factor activity|protein homodimerization activity 0 all_lung(31;0.00118) TCGCAAGAGCCGCTGCAGTAC 0.443 LNPEP 4012 broad.mit.edu 37 5 96341853 96341853 + Missense_Mutation SNP T C C TCGA-12-3653-01A-01D-1495-08 TCGA-12-3653-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx fdc52d48-828e-481f-ba1c-0264f1da38a5 6d1c37a3-4c31-404f-98b5-bc81876f4080 g.chr5:96341853T>C uc003kmv.1 + 10 2376 c.1862T>C c.(1861-1863)GTT>GCT p.V621A LNPEP_uc003kmw.1_Missense_Mutation_p.V607A NM_005575 NP_005566 Q9UIQ6 LCAP_HUMAN leucyl/cystinyl aminopeptidase isoform 1 621 Extracellular (Potential). cell-cell signaling|female pregnancy|proteolysis extracellular region|integral to plasma membrane aminopeptidase activity|metallopeptidase activity|zinc ion binding ovary(3)|breast(1) 4 all_cancers(142;7e-07)|all_epithelial(76;9.52e-10)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0269)|Breast(839;0.244) COAD - Colon adenocarcinoma(37;0.072) TTAGTGACTGTTCAAAAGAAA 0.333 PCDHB5 26167 broad.mit.edu 37 5 140516870 140516870 + Silent SNP G A A TCGA-12-3653-01A-01D-1495-08 TCGA-12-3653-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx fdc52d48-828e-481f-ba1c-0264f1da38a5 6d1c37a3-4c31-404f-98b5-bc81876f4080 g.chr5:140516870G>A uc003liq.2 + 1 2071 c.1854G>A c.(1852-1854)GCG>GCA p.A618A NM_015669 NP_056484 Q9Y5E4 PCDB5_HUMAN protocadherin beta 5 precursor 618 Cadherin 6.|Extracellular (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding|protein binding skin(3)|ovary(2) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GCATGTGGGCGCACAATGGCG 0.687 F13A1 2162 broad.mit.edu 37 6 6196068 6196068 + Missense_Mutation SNP C T T TCGA-12-3653-01A-01D-1495-08 TCGA-12-3653-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx fdc52d48-828e-481f-ba1c-0264f1da38a5 6d1c37a3-4c31-404f-98b5-bc81876f4080 g.chr6:6196068C>T uc003mwv.2 - 10 1390 c.1267G>A c.(1267-1269)GTC>ATC p.V423I F13A1_uc011dib.1_Missense_Mutation_p.V360I NM_000129 NP_000120 P00488 F13A_HUMAN coagulation factor XIII A1 subunit precursor 423 peptide cross-linking|platelet activation|platelet degranulation extracellular region|platelet alpha granule lumen acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity ovary(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|pancreas(1)|skin(1) 6 Ovarian(93;0.0816) all_hematologic(90;0.152) L-Glutamine(DB00130) TGGAAGCAGACATGGCCGTGC 0.498 GPX5 2880 broad.mit.edu 37 6 28497279 28497279 + Missense_Mutation SNP G A A rs60523386 TCGA-12-3653-01A-01D-1495-08 TCGA-12-3653-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx fdc52d48-828e-481f-ba1c-0264f1da38a5 6d1c37a3-4c31-404f-98b5-bc81876f4080 g.chr6:28497279G>A uc003nll.2 + 2 141 c.139G>A c.(139-141)GCA>ACA p.A47T GPX5_uc003nlm.2_Missense_Mutation_p.A47T|GPX5_uc003nln.2_RNA NM_001509 NP_001500 O75715 GPX5_HUMAN glutathione peroxidase 5 isoform 1 precursor 47 lipid metabolic process|response to oxidative stress extracellular region glutathione peroxidase activity skin(1) 1 Glutathione(DB00143) TGAGGCCATCGCACTTAATAA 0.428 PKHD1 5314 broad.mit.edu 37 6 51609339 51609339 + Missense_Mutation SNP T C C TCGA-12-3653-01A-01D-1495-08 TCGA-12-3653-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx fdc52d48-828e-481f-ba1c-0264f1da38a5 6d1c37a3-4c31-404f-98b5-bc81876f4080 g.chr6:51609339T>C uc003pah.1 - 60 10276 c.10000A>G c.(10000-10002)AAA>GAA p.K3334E PKHD1_uc010jzn.1_Missense_Mutation_p.K1317E|PKHD1_uc003pai.2_Missense_Mutation_p.K3334E NM_138694 NP_619639 P08F94 PKHD1_HUMAN fibrocystin isoform 1 3334 Extracellular (Potential). cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body protein binding|receptor activity lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1) 44 Lung NSC(77;0.0605) CCTAAATCTTTCCTGTGAAGA 0.383 COL28A1 340267 broad.mit.edu 37 7 7483281 7483281 + Missense_Mutation SNP C T T TCGA-12-3653-01A-01D-1495-08 TCGA-12-3653-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx fdc52d48-828e-481f-ba1c-0264f1da38a5 6d1c37a3-4c31-404f-98b5-bc81876f4080 g.chr7:7483281C>T uc003src.1 - 20 1702 c.1585G>A c.(1585-1587)GAA>AAA p.E529K COL28A1_uc011jxe.1_Missense_Mutation_p.E212K|COL28A1_uc003srd.2_Missense_Mutation_p.E84K NM_001037763 NP_001032852 Q2UY09 COSA1_HUMAN collagen, type XXVIII precursor 529 Collagen-like 4. cell adhesion basement membrane|collagen serine-type endopeptidase inhibitor activity skin(3) 3 Ovarian(82;0.0789) UCEC - Uterine corpus endometrioid carcinoma (126;0.228) AGCCCCGCTTCTCCCTAGAGA 0.517 GRM3 2913 broad.mit.edu 37 7 86415877 86415877 + Missense_Mutation SNP G A A TCGA-12-3653-01A-01D-1495-08 TCGA-12-3653-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx fdc52d48-828e-481f-ba1c-0264f1da38a5 6d1c37a3-4c31-404f-98b5-bc81876f4080 g.chr7:86415877G>A uc003uid.2 + 3 1868 c.769G>A c.(769-771)GAC>AAC p.D257N GRM3_uc010lef.2_Missense_Mutation_p.D255N|GRM3_uc010leg.2_Missense_Mutation_p.D129N|GRM3_uc010leh.2_Intron NM_000840 NP_000831 Q14832 GRM3_HUMAN glutamate receptor, metabotropic 3 precursor 257 Extracellular (Potential). synaptic transmission integral to plasma membrane lung(4)|ovary(3)|central_nervous_system(2)|skin(2)|haematopoietic_and_lymphoid_tissue(1)|prostate(1) 13 Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142) Acamprosate(DB00659)|Nicotine(DB00184) CAAGTCCTACGACAGCGTGAT 0.647 ABCB1 5243 broad.mit.edu 37 7 87179839 87179839 + Missense_Mutation SNP C G G TCGA-12-3653-01A-01D-1495-08 TCGA-12-3653-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx fdc52d48-828e-481f-ba1c-0264f1da38a5 6d1c37a3-4c31-404f-98b5-bc81876f4080 g.chr7:87179839C>G uc003uiz.1 - 12 1587 c.1169G>C c.(1168-1170)GGA>GCA p.G390A ABCB1_uc011khc.1_Missense_Mutation_p.G326A NM_000927 NP_000918 P08183 MDR1_HUMAN ATP-binding cassette, subfamily B, member 1 390 Cytoplasmic (Potential). G2/M transition of mitotic cell cycle|stem cell proliferation apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction ATP binding|protein binding|xenobiotic-transporting ATPase activity ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1) 7 Esophageal squamous(14;0.00164) Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570) TTCCAAATTTCCCTTAATATT 0.313 NPTX2 4885 broad.mit.edu 37 7 98256632 98256632 + Silent SNP C T T TCGA-12-3653-01A-01D-1495-08 TCGA-12-3653-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx fdc52d48-828e-481f-ba1c-0264f1da38a5 6d1c37a3-4c31-404f-98b5-bc81876f4080 g.chr7:98256632C>T uc003upl.2 + 4 1221 c.1044C>T c.(1042-1044)GGC>GGT p.G348G NM_002523 NP_002514 P47972 NPTX2_HUMAN neuronal pentraxin II precursor 348 Pentaxin. synaptic transmission extracellular region metal ion binding|sugar binding central_nervous_system(2)|skin(1) 3 all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142) STAD - Stomach adenocarcinoma(171;0.215) AGCCCGGGGGCGTGCTGATCC 0.677 FOXP2 93986 broad.mit.edu 37 7 114282648 114282648 + Missense_Mutation SNP A G G TCGA-12-3653-01A-01D-1495-08 TCGA-12-3653-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx fdc52d48-828e-481f-ba1c-0264f1da38a5 6d1c37a3-4c31-404f-98b5-bc81876f4080 g.chr7:114282648A>G uc003vhb.2 + 7 1333 c.959A>G c.(958-960)CAG>CGG p.Q320R FOXP2_uc003vgu.2_RNA|FOXP2_uc003vgz.2_Missense_Mutation_p.Q345R|FOXP2_uc003vha.2_Missense_Mutation_p.Q228R|FOXP2_uc011kmu.1_Missense_Mutation_p.Q337R|FOXP2_uc011kmv.1_Missense_Mutation_p.Q319R|FOXP2_uc010ljz.1_Missense_Mutation_p.Q228R|FOXP2_uc003vgx.2_Missense_Mutation_p.Q320R|FOXP2_uc003vhd.2_Missense_Mutation_p.Q320R|FOXP2_uc003vhc.2_Missense_Mutation_p.Q345R NM_014491 NP_055306 O15409 FOXP2_HUMAN forkhead box P2 isoform I 320 camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning cytoplasm|transcription factor complex chromatin binding|DNA bending activity|double-stranded DNA 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 activator activity|transcription factor binding|zinc ion binding ovary(4)|pancreas(1)|lung(1)|breast(1)|skin(1) 8 GTGAATGGACAGTCTTCAGTT 0.388 PLXNA4 91584 broad.mit.edu 37 7 131887591 131887591 + Missense_Mutation SNP G T T TCGA-12-3653-01A-01D-1495-08 TCGA-12-3653-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx fdc52d48-828e-481f-ba1c-0264f1da38a5 6d1c37a3-4c31-404f-98b5-bc81876f4080 g.chr7:131887591G>T uc003vra.3 - 12 2629 c.2400C>A c.(2398-2400)CAC>CAA p.H800Q NM_020911 NP_065962 Q9HCM2 PLXA4_HUMAN plexin A4 isoform 1 800 Extracellular (Potential). integral to membrane|intracellular|plasma membrane ovary(1) 1 ACTTGTAGAGGTGAACTGCAG 0.632 TRPV6 55503 broad.mit.edu 37 7 142573429 142573429 + Missense_Mutation SNP C T T TCGA-12-3653-01A-01D-1495-08 TCGA-12-3653-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx fdc52d48-828e-481f-ba1c-0264f1da38a5 6d1c37a3-4c31-404f-98b5-bc81876f4080 g.chr7:142573429C>T uc003wbx.1 - 8 1130 c.914G>A c.(913-915)CGC>CAC p.R305H TRPV6_uc003wbw.1_Missense_Mutation_p.R91H|TRPV6_uc010lou.1_Missense_Mutation_p.R176H NM_018646 NP_061116 Q9H1D0 TRPV6_HUMAN transient receptor potential cation channel, 305 Cytoplasmic (Potential). regulation of calcium ion-dependent exocytosis integral to plasma membrane calcium channel activity|calmodulin binding ovary(2) 2 Melanoma(164;0.059) CAGGATCTGGCGAGCCTGCAA 0.607 ZYX 7791 broad.mit.edu 37 7 143080299 143080299 + Missense_Mutation SNP T C C TCGA-12-3653-01A-01D-1495-08 TCGA-12-3653-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx fdc52d48-828e-481f-ba1c-0264f1da38a5 6d1c37a3-4c31-404f-98b5-bc81876f4080 g.chr7:143080299T>C uc003wcw.2 + 5 1062 c.907T>C c.(907-909)TCT>CCT p.S303P ZYX_uc011ktd.1_Missense_Mutation_p.S146P|ZYX_uc003wcx.2_Missense_Mutation_p.S303P|ZYX_uc011kte.1_Missense_Mutation_p.S272P|ZYX_uc011ktf.1_Missense_Mutation_p.S146P NM_001010972 NP_001010972 Q15942 ZYX_HUMAN zyxin 303 cell adhesion|cell-cell signaling|interspecies interaction between organisms|signal transduction cell-cell adherens junction|cytoplasm|focal adhesion|integral to plasma membrane|nucleus|stress fiber protein binding|zinc ion binding 0 Melanoma(164;0.205) CGAAGCTCTTTCTGCTGGCAC 0.597 ZFAT 57623 broad.mit.edu 37 8 135612748 135612748 + Silent SNP G A A rs144002982 by1000genomes TCGA-12-3653-01A-01D-1495-08 TCGA-12-3653-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx fdc52d48-828e-481f-ba1c-0264f1da38a5 6d1c37a3-4c31-404f-98b5-bc81876f4080 g.chr8:135612748G>A uc003yup.2 - 7 2581 c.2406C>T c.(2404-2406)ACC>ACT p.T802T ZFAT_uc003yun.2_Silent_p.T790T|ZFAT_uc003yuo.2_Silent_p.T790T|ZFAT_uc010meh.2_Silent_p.T790T|ZFAT_uc010mei.2_RNA|ZFAT_uc003yuq.2_Silent_p.T790T|ZFAT_uc010mej.2_Silent_p.T740T|ZFAT_uc003yur.2_Silent_p.T790T|ZFATAS_uc003yus.1_RNA NM_020863 NP_065914 Q9P243 ZFAT_HUMAN zinc finger protein 406 isoform ZFAT-1 802 C2H2-type 12. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nucleus DNA binding|zinc ion binding central_nervous_system(1) 1 all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0432) CACAGCCATCGGTGGGACACT 0.448 C9orf102 375748 broad.mit.edu 37 9 98683552 98683552 + Silent SNP T G G TCGA-12-3653-01A-01D-1495-08 TCGA-12-3653-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx fdc52d48-828e-481f-ba1c-0264f1da38a5 6d1c37a3-4c31-404f-98b5-bc81876f4080 g.chr9:98683552T>G uc004avt.3 + 7 1675 c.1287T>G c.(1285-1287)CCT>CCG p.P429P C9orf102_uc010mrx.1_RNA|C9orf102_uc011lum.1_Silent_p.P131P|C9orf102_uc010mry.1_Silent_p.P131P|C9orf102_uc010mrz.2_Silent_p.P240P|C9orf102_uc004avu.2_5'Flank NM_001010895 NP_001010895 Q5T890 RAD26_HUMAN RAD26L hypothetical protein 429 DNA repair nucleus ATP binding|ATP-dependent helicase activity|DNA binding 0 Acute lymphoblastic leukemia(62;0.0559) CTTCTGAGCCTTGTACCTGTA 0.363 XK 7504 broad.mit.edu 37 X 37587132 37587133 + Frame_Shift_Ins INS - C C TCGA-12-3653-01A-01D-1495-08 TCGA-12-3653-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx fdc52d48-828e-481f-ba1c-0264f1da38a5 6d1c37a3-4c31-404f-98b5-bc81876f4080 g.chrX:37587132_37587133insC uc004ddq.2 + 3 834_835 c.752_753insC c.(751-753)TACfs p.Y251fs NM_021083 NP_066569 P51811 XK_HUMAN membrane transport protein XK 251 Helical; (Potential). amino acid transport integral to membrane protein binding|transporter activity 0 all_lung(315;0.175) TTCTTCTTGTACCCCTGGATCC 0.485 SMARCA1 6594 broad.mit.edu 37 X 128621040 128621040 + Missense_Mutation SNP T G G TCGA-12-3653-01A-01D-1495-08 TCGA-12-3653-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx fdc52d48-828e-481f-ba1c-0264f1da38a5 6d1c37a3-4c31-404f-98b5-bc81876f4080 g.chrX:128621040T>G uc004eun.3 - 17 2285 c.2172A>C c.(2170-2172)CAA>CAC p.Q724H SMARCA1_uc004eup.3_Missense_Mutation_p.Q712H|SMARCA1_uc011muk.1_Missense_Mutation_p.Q724H|SMARCA1_uc011mul.1_Missense_Mutation_p.Q712H NM_003069 NP_003060 P28370 SMCA1_HUMAN SWI/SNF-related matrix-associated 724 ATP-dependent chromatin remodeling|brain development|neuron differentiation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent NURF complex ATP binding|DNA binding|helicase activity|nucleosome binding|protein binding ovary(3)|skin(1) 4 TGTATAAACTTTGTTCAATGT 0.348