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 ACHILLES_Top_Genes CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_status validation_method validation_tumor_sample validation_alt_allele pox qox pox_cutoff isArtifactMode oxoGCut EXTL1 2134 broad.mit.edu 37 1 26357639 26357639 + Missense_Mutation SNP T T G TCGA-55-7573-01A-11D-2036-08 TCGA-55-7573-11A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 36b5181b-9b59-428a-9c0e-45ac9e0d1674 4cc8017b-3238-4cf0-9c04-4a739fe7b511 g.chr1:26357639T>G uc001blf.2 + 5 1985 c.1118T>G c.(1117-1119)ATT>AGT p.I373S NM_004455 NP_004446 Q92935 EXTL1_HUMAN exostoses-like 1 373 Lumenal (Potential). skeletal system development integral to membrane|intrinsic to endoplasmic reticulum membrane glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|protein binding central_nervous_system(1) 1 Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00594)|READ - Rectum adenocarcinoma(331;0.0649) CAGGACCGGATTTTTGGAACA 0.587 NA 20 92 0 0 0.014323 0 0 NBPF14 25832 broad.mit.edu 37 1 148009403 148009403 + Missense_Mutation SNP T T C TCGA-55-7573-01A-11D-2036-08 TCGA-55-7573-11A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 36b5181b-9b59-428a-9c0e-45ac9e0d1674 4cc8017b-3238-4cf0-9c04-4a739fe7b511 g.chr1:148009403T>C uc001eqq.2 - 16 1921 c.1904A>G c.(1903-1905)TAC>TGC p.Y635C LOC200030_uc001eqe.2_Intron|LOC200030_uc001eqf.2_Intron|LOC200030_uc001eqg.2_Intron|FLJ39739_uc001eqo.1_Intron|NBPF14_uc010pab.1_Intron|NBPF14_uc010pac.1_Missense_Mutation_p.Y208C|NBPF14_uc001eqx.2_Intron|NBPF14_uc010pad.1_Intron|NBPF14_uc001eqs.1_Intron NM_015383 NP_056198 Q5TI25 NBPFE_HUMAN hypothetical protein LOC25832 635 NBPF 7. cytoplasm ovary(1) 1 all_hematologic(923;0.032) GGCACTTCTGTAGGGCTGGCA 0.468 NA 31 341 0 0 0.004289 0 0 GPA33 10223 broad.mit.edu 37 1 167042703 167042703 + Silent SNP G G A TCGA-55-7573-01A-11D-2036-08 TCGA-55-7573-11A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 36b5181b-9b59-428a-9c0e-45ac9e0d1674 4cc8017b-3238-4cf0-9c04-4a739fe7b511 g.chr1:167042703G>A uc001gea.1 - 2 461 c.117C>T c.(115-117)GTC>GTT p.V39V NM_005814 NP_005805 Q99795 GPA33_HUMAN transmembrane glycoprotein A33 precursor 39 Ig-like V-type.|Extracellular (Potential). integral to plasma membrane receptor activity 0 AGGGCAGGGTGACACTCTTTC 0.532 NA 12 33 0 0 0.013537 0 0 PRRX1 5396 broad.mit.edu 37 1 170705309 170705309 + Silent SNP G G A TCGA-55-7573-01A-11D-2036-08 TCGA-55-7573-11A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 36b5181b-9b59-428a-9c0e-45ac9e0d1674 4cc8017b-3238-4cf0-9c04-4a739fe7b511 g.chr1:170705309G>A uc001ghf.2 + 4 767 c.720G>A c.(718-720)CAG>CAA p.Q240Q PRRX1_uc001ghe.2_3'UTR NM_022716 NP_073207 P54821 PRRX1_HUMAN paired mesoderm homeobox 1 isoform pmx-1b 240 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity ovary(1) 1 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) AGAGGAACCAGGTGCCAACAG 0.433 NA 34 72 0 0 0.010818 0 0 HMCN1 83872 broad.mit.edu 37 1 186056718 186056718 + Nonsense_Mutation SNP G G T TCGA-55-7573-01A-11D-2036-08 TCGA-55-7573-11A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 36b5181b-9b59-428a-9c0e-45ac9e0d1674 4cc8017b-3238-4cf0-9c04-4a739fe7b511 g.chr1:186056718G>T uc001grq.1 + 60 9533 c.9304G>T c.(9304-9306)GAG>TAG p.E3102* NM_031935 NP_114141 Q96RW7 HMCN1_HUMAN hemicentin 1 precursor 3102 Ig-like C2-type 29. response to stimulus|visual perception basement membrane calcium ion binding ovary(22)|skin(1) 23 GATGATAACAGAGTCTACTCA 0.428 NA 17 91 2.35188e-11 3.37103e-11 0.006122 1 0 OR2M5 127059 broad.mit.edu 37 1 248308722 248308722 + Silent SNP C C G TCGA-55-7573-01A-11D-2036-08 TCGA-55-7573-11A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 36b5181b-9b59-428a-9c0e-45ac9e0d1674 4cc8017b-3238-4cf0-9c04-4a739fe7b511 g.chr1:248308722C>G uc010pze.1 + 1 273 c.273C>G c.(271-273)TCC>TCG p.S91S NM_001004690 NP_001004690 A3KFT3 OR2M5_HUMAN olfactory receptor, family 2, subfamily M, 91 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|kidney(1) 3 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0388) GCAGCAAGTCCATTTCTATGG 0.463 NA 145 317 0 0 0.01441 0 0 PTCHD3 374308 broad.mit.edu 37 10 27688056 27688056 + Missense_Mutation SNP T T A TCGA-55-7573-01A-11D-2036-08 TCGA-55-7573-11A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 36b5181b-9b59-428a-9c0e-45ac9e0d1674 4cc8017b-3238-4cf0-9c04-4a739fe7b511 g.chr10:27688056T>A uc001itu.2 - 4 1589 c.1471A>T c.(1471-1473)ACA>TCA p.T491S NM_001034842 NP_001030014 Q3KNS1 PTHD3_HUMAN patched domain containing 3 491 SSD.|Helical; (Potential). spermatid development integral to membrane hedgehog receptor activity ovary(2)|pancreas(1)|skin(1) 4 GTGGTGATTGTAATAGACACT 0.413 NA 13 32 0 0 0.001855 0 0 ERCC6 2074 broad.mit.edu 37 10 50667157 50667157 + Missense_Mutation SNP T T C TCGA-55-7573-01A-11D-2036-08 TCGA-55-7573-11A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 36b5181b-9b59-428a-9c0e-45ac9e0d1674 4cc8017b-3238-4cf0-9c04-4a739fe7b511 g.chr10:50667157T>C uc001jhs.3 - 21 4340 c.4186A>G c.(4186-4188)AGA>GGA p.R1396G ERCC6_uc009xod.2_Missense_Mutation_p.R556G|ERCC6_uc010qgr.1_Missense_Mutation_p.R766G|ERCC6_uc001jhr.3_Missense_Mutation_p.R764G NM_000124 NP_000115 Q03468 ERCC6_HUMAN excision repair cross-complementing rodent 1396 base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair nucleolus|soluble fraction|transcription elongation factor complex ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding lung(5)|breast(5)|ovary(3)|large_intestine(2)|skin(1) 16 AGGTGGTTTCTAGCTCTCATT 0.512 NA Direct_reversal_of_damage|NER 18 76 0 0 0.00499 0 0 GRID1 2894 broad.mit.edu 37 10 87373269 87373269 + Silent SNP G G A TCGA-55-7573-01A-11D-2036-08 TCGA-55-7573-11A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 36b5181b-9b59-428a-9c0e-45ac9e0d1674 4cc8017b-3238-4cf0-9c04-4a739fe7b511 g.chr10:87373269G>A uc001kdl.1 - 15 2597 c.2496C>T c.(2494-2496)GCC>GCT p.A832A GRID1_uc009xsu.1_RNA|GRID1_uc010qmf.1_Silent_p.A403A NM_017551 NP_060021 Q9ULK0 GRID1_HUMAN glutamate receptor, ionotropic, delta 1 832 Helical; (Potential). cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity ovary(5)|upper_aerodigestive_tract(2)|large_intestine(2)|central_nervous_system(1) 10 L-Glutamic Acid(DB00142) AGAAGACCCCGGCGAAGCTGT 0.657 NA Multiple Myeloma(13;0.14) 4 60 0 0 0.009096 0 0 EIF4G2 1982 broad.mit.edu 37 11 10822541 10822541 + Missense_Mutation SNP G G C TCGA-55-7573-01A-11D-2036-08 TCGA-55-7573-11A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 36b5181b-9b59-428a-9c0e-45ac9e0d1674 4cc8017b-3238-4cf0-9c04-4a739fe7b511 g.chr11:10822541G>C uc001mjc.2 - 15 1924 c.1507C>G c.(1507-1509)CCA>GCA p.P503A EIF4G2_uc001mjb.2_Missense_Mutation_p.P297A|EIF4G2_uc009ygf.2_Missense_Mutation_p.P297A|EIF4G2_uc001mjd.2_Missense_Mutation_p.P465A|EIF4G2_uc001mjf.1_Missense_Mutation_p.P259A NM_001418 NP_001409 P78344 IF4G2_HUMAN eukaryotic translation initiation factor 4 503 cell cycle arrest|cell death|regulation of translational initiation|RNA metabolic process eukaryotic translation initiation factor 4F complex protein binding|translation initiation factor activity ovary(1)|central_nervous_system(1) 2 all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111) GTGCGTGGTGGTTGTGCACTA 0.428 NA 4 49 0 0 0.000602 0 0 OR4S2 219431 broad.mit.edu 37 11 55418704 55418704 + Nonsense_Mutation SNP G G T TCGA-55-7573-01A-11D-2036-08 TCGA-55-7573-11A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 36b5181b-9b59-428a-9c0e-45ac9e0d1674 4cc8017b-3238-4cf0-9c04-4a739fe7b511 g.chr11:55418704G>T uc001nhs.1 + 1 325 c.325G>T c.(325-327)GAG>TAG p.E109* NM_001004059 NP_001004059 Q8NH73 OR4S2_HUMAN olfactory receptor, family 4, subfamily S, 109 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|ovary(1) 3 all_epithelial(135;0.0748) TGGTTGCACTGAGATCTTCAT 0.418 NA 20 111 2.37509e-13 3.52169e-13 0.010504 1 0 OR5L1 219437 broad.mit.edu 37 11 55579820 55579820 + Missense_Mutation SNP G G T TCGA-55-7573-01A-11D-2036-08 TCGA-55-7573-11A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 36b5181b-9b59-428a-9c0e-45ac9e0d1674 4cc8017b-3238-4cf0-9c04-4a739fe7b511 g.chr11:55579820G>T uc001nhw.1 + 1 878 c.878G>T c.(877-879)AGA>ATA p.R293I NM_001004738 NP_001004738 Q8NGL2 OR5L1_HUMAN olfactory receptor, family 5, subfamily L, 293 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(3)|ovary(2) 5 all_epithelial(135;0.208) TACAGCCTGAGAAATAAAGAT 0.453 NA 4 38 0.000602214 0.000690539 0.000602 1 0 OTUB1 55611 broad.mit.edu 37 11 63764060 63764060 + Missense_Mutation SNP A A G TCGA-55-7573-01A-11D-2036-08 TCGA-55-7573-11A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 36b5181b-9b59-428a-9c0e-45ac9e0d1674 4cc8017b-3238-4cf0-9c04-4a739fe7b511 g.chr11:63764060A>G uc001nyf.1 + 4 882 c.278A>G c.(277-279)TAT>TGT p.Y93C OTUB1_uc001nyg.1_Missense_Mutation_p.I67V|OTUB1_uc010rmz.1_Missense_Mutation_p.Y130C|OTUB1_uc010rna.1_Missense_Mutation_p.I33V|OTUB1_uc009ypa.2_Intron|OTUB1_uc009ypb.1_Missense_Mutation_p.Y63C NM_017670 NP_060140 Q96FW1 OTUB1_HUMAN otubain 1 93 OTU. protein K48-linked deubiquitination cytoplasm NEDD8-specific protease activity|omega peptidase activity|ubiquitin binding|ubiquitin-specific protease activity breast(1) 1 AACTGTTTCTATCGGGCTTTC 0.592 NA 29 32 0 0 0.005443 0 0 CDC42BPG 55561 broad.mit.edu 37 11 64596984 64596984 + Missense_Mutation SNP C C A TCGA-55-7573-01A-11D-2036-08 TCGA-55-7573-11A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 36b5181b-9b59-428a-9c0e-45ac9e0d1674 4cc8017b-3238-4cf0-9c04-4a739fe7b511 g.chr11:64596984C>A uc001obs.3 - 30 3926 c.3926G>T c.(3925-3927)CGT>CTT p.R1309L NM_017525 NP_059995 Q6DT37 MRCKG_HUMAN CDC42 binding protein kinase gamma (DMPK-like) 1309 CNH. actin cytoskeleton reorganization|intracellular signal transduction cell leading edge|centrosome ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity lung(3)|central_nervous_system(1) 4 CTCGTGGCCACGAGACTTGCG 0.652 NA 14 26 0.00244969 0.00270095 0.00245 1 0 SLC36A4 120103 broad.mit.edu 37 11 92881884 92881884 + Missense_Mutation SNP T T C TCGA-55-7573-01A-11D-2036-08 TCGA-55-7573-11A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 36b5181b-9b59-428a-9c0e-45ac9e0d1674 4cc8017b-3238-4cf0-9c04-4a739fe7b511 g.chr11:92881884T>C uc001pdn.2 - 11 1431 c.1334A>G c.(1333-1335)TAT>TGT p.Y445C uc001pdl.1_5'Flank|SLC36A4_uc001pdm.2_Missense_Mutation_p.Y310C NM_152313 NP_689526 Q6YBV0 S36A4_HUMAN solute carrier family 36 (proton/amino acid 445 L-alanine transport|proline transport|tryptophan transport integral to membrane symporter activity ovary(2)|upper_aerodigestive_tract(1) 3 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123) CCATATATTATAATGTTCCTT 0.358 NA 13 25 0 0 0.003163 0 0 TROAP 10024 broad.mit.edu 37 12 49724607 49724607 + Missense_Mutation SNP C C T TCGA-55-7573-01A-11D-2036-08 TCGA-55-7573-11A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 36b5181b-9b59-428a-9c0e-45ac9e0d1674 4cc8017b-3238-4cf0-9c04-4a739fe7b511 g.chr12:49724607C>T uc001rtx.3 + 13 2146 c.1979C>T c.(1978-1980)CCC>CTC p.P660L TROAP_uc009zlh.2_Missense_Mutation_p.P660L|TROAP_uc001rty.2_Missense_Mutation_p.P339L NM_005480 NP_005471 Q12815 TROAP_HUMAN tastin isoform 1 660 Cys-rich. cell adhesion cytoplasm ovary(1) 1 AGTCTACCACCCTGCTGCAGT 0.607 NA 21 127 0 0 0.012319 0 0 FBXO21 23014 broad.mit.edu 37 12 117612494 117612494 + Missense_Mutation SNP C C T TCGA-55-7573-01A-11D-2036-08 TCGA-55-7573-11A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 36b5181b-9b59-428a-9c0e-45ac9e0d1674 4cc8017b-3238-4cf0-9c04-4a739fe7b511 g.chr12:117612494C>T uc001twk.2 - 5 740 c.701G>A c.(700-702)GGC>GAC p.G234D FBXO21_uc001twj.2_Missense_Mutation_p.G234D|FBXO21_uc009zwq.2_Missense_Mutation_p.G234D NM_033624 NP_296373 O94952 FBX21_HUMAN F-box only protein 21 isoform 1 234 ubiquitin-dependent protein catabolic process ubiquitin ligase complex ubiquitin-protein ligase activity kidney(1) 1 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.0291) ACTGTTTATGCCCCGAAGGGT 0.468 GBM(168;452 2038 13535 17701 43680) NA 3 41 0 0 0.004672 0 0 B3GNT4 79369 broad.mit.edu 37 12 122691766 122691766 + Missense_Mutation SNP C C T TCGA-55-7573-01A-11D-2036-08 TCGA-55-7573-11A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 36b5181b-9b59-428a-9c0e-45ac9e0d1674 4cc8017b-3238-4cf0-9c04-4a739fe7b511 g.chr12:122691766C>T uc001ubx.2 + 3 1186 c.968C>T c.(967-969)GCT>GTT p.A323V B3GNT4_uc001uby.2_Missense_Mutation_p.A298V NM_030765 NP_110392 Q9C0J1 B3GN4_HUMAN UDP-GlcNAc:betaGal 323 Lumenal (Potential). protein glycosylation Golgi membrane|integral to membrane galactosyltransferase activity ovary(1) 1 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000297)|Epithelial(86;0.000497)|BRCA - Breast invasive adenocarcinoma(302;0.222) ATGCACCATGCTGGCTTCAAG 0.597 NA 3 50 0 0 0.004672 0 0 FLRT2 23768 broad.mit.edu 37 14 86089656 86089656 + Silent SNP C C T TCGA-55-7573-01A-11D-2036-08 TCGA-55-7573-11A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 36b5181b-9b59-428a-9c0e-45ac9e0d1674 4cc8017b-3238-4cf0-9c04-4a739fe7b511 g.chr14:86089656C>T uc001xvr.2 + 2 2565 c.1798C>T c.(1798-1800)CTG>TTG p.L600L FLRT2_uc010atd.2_Silent_p.L600L NM_013231 NP_037363 O43155 FLRT2_HUMAN fibronectin leucine rich transmembrane protein 2 600 Cytoplasmic (Potential). cell adhesion integral to plasma membrane|proteinaceous extracellular matrix protein binding, bridging|receptor signaling protein activity ovary(3)|haematopoietic_and_lymphoid_tissue(1) 4 BRCA - Breast invasive adenocarcinoma(234;0.0319) CAACTCCATCCTGGAGATGAC 0.498 NA 4 149 0 0 0.009096 0 0 GP2 2813 broad.mit.edu 37 16 20335360 20335360 + Missense_Mutation SNP C C T TCGA-55-7573-01A-11D-2036-08 TCGA-55-7573-11A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 36b5181b-9b59-428a-9c0e-45ac9e0d1674 4cc8017b-3238-4cf0-9c04-4a739fe7b511 g.chr16:20335360C>T uc002dgv.2 - 3 396 c.313G>A c.(313-315)GAG>AAG p.E105K GP2_uc002dgw.2_Missense_Mutation_p.E105K|GP2_uc002dgx.2_Intron|GP2_uc002dgy.2_Intron NM_001007240 NP_001007241 P55259 GP2_HUMAN zymogen granule membrane glycoprotein 2 isoform 105 anchored to membrane|extracellular region|plasma membrane ovary(3)|skin(1) 4 ACACAGGTCTCCGACATCCTT 0.592 NA 39 69 0 0 0.00874 0 0 TP53 7157 broad.mit.edu 37 17 7578526 7578526 + Missense_Mutation SNP C C A TCGA-55-7573-01A-11D-2036-08 TCGA-55-7573-11A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 36b5181b-9b59-428a-9c0e-45ac9e0d1674 4cc8017b-3238-4cf0-9c04-4a739fe7b511 g.chr17:7578526C>A uc002gim.2 - 5 598 c.404G>T c.(403-405)TGC>TTC p.C135F TP53_uc002gig.1_Missense_Mutation_p.C135F|TP53_uc002gih.2_Missense_Mutation_p.C135F|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.C3F|TP53_uc010cng.1_Missense_Mutation_p.C3F|TP53_uc002gii.1_Missense_Mutation_p.C3F|TP53_uc010cnh.1_Missense_Mutation_p.C135F|TP53_uc010cni.1_Missense_Mutation_p.C135F|TP53_uc002gij.2_Missense_Mutation_p.C135F|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.C42F|TP53_uc002gio.2_Missense_Mutation_p.C3F|TP53_uc010vug.1_Missense_Mutation_p.C96F NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 135 Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). C -> S (in sporadic cancers; somatic mutation).|C -> Y (in sporadic cancers; somatic mutation; decreased E6-mediated binding to E6-AP).|C -> T (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|C -> R (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> F (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.C135Y(51)|p.C135F(34)|p.C135W(19)|p.C135S(10)|p.C135fs*35(9)|p.0?(7)|p.C135*(7)|p.C135G(6)|p.C135R(6)|p.C135C(5)|p.C135fs*14(2)|p.N131fs*27(2)|p.F134_T140>S(1)|p.K132_A138delKMFCQLA(1)|p.S127_Q136del10(1)|p.C135T(1)|p.V73fs*9(1)|p.C135fs*36(1)|p.C135fs*15(1)|p.Y126fs*11(1)|p.C135_A138delCQLA(1)|p.C42Y(1)|p.C3Y(1)|p.M133fs*13(1)|p.C135_T140delCQLAKT(1)|p.Q136fs*13(1)|p.C135_Q136insXXXXXX(1)|p.C135_Q136insX(1) large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1) 22245 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) GGCCAGTTGGCAAAACATCTT 0.572 Pancreas(47;798 1329 9957 10801) 111 Mis|N|F breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types Other_conserved_DNA_damage_response_genes Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumensyndrome|Osteosarcoma_Familial_Clustering_of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 10 28 7.48243e-07 9.06322e-07 0.006214 1 0 NCOR1 9611 broad.mit.edu 37 17 16024509 16024509 + Missense_Mutation SNP C C A TCGA-55-7573-01A-11D-2036-08 TCGA-55-7573-11A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 36b5181b-9b59-428a-9c0e-45ac9e0d1674 4cc8017b-3238-4cf0-9c04-4a739fe7b511 g.chr17:16024509C>A uc002gpo.2 - 16 1949 c.1709G>T c.(1708-1710)CGG>CTG p.R570L NCOR1_uc002gpn.2_Missense_Mutation_p.R570L|NCOR1_uc002gpp.1_Missense_Mutation_p.R461L|NCOR1_uc002gpr.2_Missense_Mutation_p.R461L NM_006311 NP_006302 O75376 NCOR1_HUMAN nuclear receptor co-repressor 1 570 cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter nuclear chromatin|spindle microtubule|transcriptional repressor complex histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding upper_aerodigestive_tract(2)|ovary(1)|central_nervous_system(1)|kidney(1) 5 UCEC - Uterine corpus endometrioid carcinoma (92;0.101) CTTTCGCCCCCGGGGTGTGGC 0.537 NA 32 84 9.65963e-10 1.31862e-09 0.003271 1 0 PLD6 201164 broad.mit.edu 37 17 17106252 17106252 + Silent SNP C C A TCGA-55-7573-01A-11D-2036-08 TCGA-55-7573-11A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 36b5181b-9b59-428a-9c0e-45ac9e0d1674 4cc8017b-3238-4cf0-9c04-4a739fe7b511 g.chr17:17106252C>A uc002gqz.2 - 2 620 c.588G>T c.(586-588)CGG>CGT p.R196R PLD6_uc010cpn.2_RNA NM_178836 NP_849158 Q8N2A8 PLD6_HUMAN phospholipase D6 196 Cytoplasmic (Potential). DNA methylation involved in gamete generation|lipid catabolic process|meiosis|mitochondrial fusion|P granule organization|piRNA metabolic process|spermatid development integral to membrane|mitochondrial outer membrane cardiolipin hydrolase activity|protein homodimerization activity 0 CCAGAAAAAGCCGCACGTACT 0.507 NA 21 43 3.62473e-10 5.02785e-10 0.012319 1 0 NUP85 79902 broad.mit.edu 37 17 73206052 73206052 + Nonsense_Mutation SNP G G T TCGA-55-7573-01A-11D-2036-08 TCGA-55-7573-11A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 36b5181b-9b59-428a-9c0e-45ac9e0d1674 4cc8017b-3238-4cf0-9c04-4a739fe7b511 g.chr17:73206052G>T uc002jng.1 + 3 522 c.262G>T c.(262-264)GAG>TAG p.E88* NUP85_uc010dgd.1_Nonsense_Mutation_p.E88*|NUP85_uc010wrv.1_Nonsense_Mutation_p.E42* NM_024844 NP_079120 Q9BW27 NUP85_HUMAN nucleoporin 85 88 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytosol|nuclear membrane|Nup107-160 complex|spindle protein binding ovary(1) 1 all_lung(278;0.14)|Lung NSC(278;0.168) all cancers(21;3.45e-06) AATTGACGAAGAGTTGACTGG 0.403 NA 14 49 1.67942e-08 2.18833e-08 0.006122 1 0 CCDC57 284001 broad.mit.edu 37 17 80146200 80146200 + Missense_Mutation SNP C C T TCGA-55-7573-01A-11D-2036-08 TCGA-55-7573-11A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 36b5181b-9b59-428a-9c0e-45ac9e0d1674 4cc8017b-3238-4cf0-9c04-4a739fe7b511 g.chr17:80146200C>T uc002kdz.1 - 8 1302 c.947G>A c.(946-948)AGG>AAG p.R316K CCDC57_uc002kdx.1_Missense_Mutation_p.R316K NM_198082 NP_932348 Q2TAC2 CCD57_HUMAN coiled-coil domain containing 57 316 Potential. ovary(2) 2 Breast(20;0.00285)|all_neural(118;0.0878)|all_lung(278;0.0949)|Lung NSC(278;0.128)|Ovarian(332;0.227) BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0253) CTCCAGAACCCTGGTCTGCAG 0.652 NA 4 12 0 0 0.009096 0 0 KLHL14 57565 broad.mit.edu 37 18 30254700 30254700 + Missense_Mutation SNP C C T TCGA-55-7573-01A-11D-2036-08 TCGA-55-7573-11A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 36b5181b-9b59-428a-9c0e-45ac9e0d1674 4cc8017b-3238-4cf0-9c04-4a739fe7b511 g.chr18:30254700C>T uc002kxm.1 - 9 2195 c.1807G>A c.(1807-1809)GAA>AAA p.E603K KLHL14_uc010dmd.1_Missense_Mutation_p.E152K NM_020805 NP_065856 Q9P2G3 KLH14_HUMAN kelch-like 14 603 Kelch 6. cytosol|endoplasmic reticulum membrane ovary(1) 1 ACATCTCCTTCGAGTTCTGTC 0.473 NA 5 164 0 0 0.000602 0 0 PRR12 57479 broad.mit.edu 37 19 50099261 50099261 + Missense_Mutation SNP G G T TCGA-55-7573-01A-11D-2036-08 TCGA-55-7573-11A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 36b5181b-9b59-428a-9c0e-45ac9e0d1674 4cc8017b-3238-4cf0-9c04-4a739fe7b511 g.chr19:50099261G>T uc002poo.3 + 4 1669 c.1669G>T c.(1669-1671)GGT>TGT p.G557C NM_020719 NP_065770 Q9ULL5 PRR12_HUMAN proline rich 12 330 Pro-rich. DNA binding central_nervous_system(1)|pancreas(1) 2 all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887) OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132) GGGAGGCGGCGGTGAGGCCAG 0.692 NA 11 42 1.08611e-07 1.3537e-07 0.010729 1 0 BIRC8 112401 broad.mit.edu 37 19 53793270 53793270 + Missense_Mutation SNP G G C rs113838023 byFrequency TCGA-55-7573-01A-11D-2036-08 TCGA-55-7573-11A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 36b5181b-9b59-428a-9c0e-45ac9e0d1674 4cc8017b-3238-4cf0-9c04-4a739fe7b511 g.chr19:53793270G>C uc002qbk.2 - 1 1606 c.358C>G c.(358-360)CGA>GGA p.R120G NM_033341 NP_203127 Q96P09 BIRC8_HUMAN baculoviral IAP repeat-containing 8 120 apoptosis zinc ion binding p.R120*(1) lung(1) 1 GBM - Glioblastoma multiforme(134;0.00304) AATCCCATTCGTATAGCTTCT 0.383 NA 16 81 0 0 0.003163 0 0 KIDINS220 57498 broad.mit.edu 37 2 8919861 8919861 + Silent SNP G G A TCGA-55-7573-01A-11D-2036-08 TCGA-55-7573-11A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 36b5181b-9b59-428a-9c0e-45ac9e0d1674 4cc8017b-3238-4cf0-9c04-4a739fe7b511 g.chr2:8919861G>A uc002qzc.2 - 18 2495 c.2313C>T c.(2311-2313)GTC>GTT p.V771V KIDINS220_uc010yiv.1_Silent_p.V537V|KIDINS220_uc002qzd.2_Silent_p.V729V|KIDINS220_uc010yiw.1_Silent_p.V772V NM_020738 NP_065789 Q9ULH0 KDIS_HUMAN kinase D-interacting substrate of 220 kDa 771 KAP NTPase.|Cytoplasmic (Potential). activation of MAPKK activity|nerve growth factor receptor signaling pathway cytosol|integral to membrane ovary(3)|central_nervous_system(1) 4 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) CATCGATGATGACCACCAGCC 0.463 NA 11 33 0 0 0.010729 0 0 ZDBF2 57683 broad.mit.edu 37 2 207170309 207170309 + Missense_Mutation SNP T T C TCGA-55-7573-01A-11D-2036-08 TCGA-55-7573-11A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 36b5181b-9b59-428a-9c0e-45ac9e0d1674 4cc8017b-3238-4cf0-9c04-4a739fe7b511 g.chr2:207170309T>C uc002vbp.2 + 5 1307 c.1057T>C c.(1057-1059)TTT>CTT p.F353L NM_020923 NP_065974 Q9HCK1 ZDBF2_HUMAN zinc finger, DBF-type containing 2 353 nucleic acid binding|zinc ion binding ovary(3) 3 CAAGACAGCCTTTTGGGAACA 0.388 NA 11 39 0 0 0.013537 0 0 KIAA0406 9675 broad.mit.edu 37 20 36641109 36641109 + Silent SNP G G A TCGA-55-7573-01A-11D-2036-08 TCGA-55-7573-11A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 36b5181b-9b59-428a-9c0e-45ac9e0d1674 4cc8017b-3238-4cf0-9c04-4a739fe7b511 g.chr20:36641109G>A uc002xhl.2 - 3 1319 c.1110C>T c.(1108-1110)CTC>CTT p.L370L KIAA0406_uc002xhm.2_Silent_p.L370L NM_014657 NP_055472 O43156 TTI1_HUMAN hypothetical protein LOC9675 370 binding 0 Myeloproliferative disorder(115;0.00874) AGATGTCAGCGAGGGCTTTGT 0.458 NA 15 136 0 0 0.010504 0 0 PTGIS 5740 broad.mit.edu 37 20 48140776 48140776 + Missense_Mutation SNP C C A TCGA-55-7573-01A-11D-2036-08 TCGA-55-7573-11A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 36b5181b-9b59-428a-9c0e-45ac9e0d1674 4cc8017b-3238-4cf0-9c04-4a739fe7b511 g.chr20:48140776C>A uc002xut.2 - 6 728 c.674G>T c.(673-675)GGG>GTG p.G225V PTGIS_uc010zyi.1_Missense_Mutation_p.G86V NM_000961 NP_000952 Q16647 PTGIS_HUMAN prostaglandin I2 synthase 225 hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|prostaglandin-I synthase activity skin(2)|ovary(1) 3 BRCA - Breast invasive adenocarcinoma(12;2.37e-05)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166) Phenylbutazone(DB00812) GTCCTTGTCCCCTGCAGGGAC 0.602 NA 4 72 0.00909568 0.00990163 0.009096 1 0 CADPS 8618 broad.mit.edu 37 3 62751619 62751619 + Missense_Mutation SNP T T C TCGA-55-7573-01A-11D-2036-08 TCGA-55-7573-11A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 36b5181b-9b59-428a-9c0e-45ac9e0d1674 4cc8017b-3238-4cf0-9c04-4a739fe7b511 g.chr3:62751619T>C uc003dll.2 - 2 842 c.482A>G c.(481-483)CAG>CGG p.Q161R CADPS_uc003dlm.2_Missense_Mutation_p.Q161R|CADPS_uc003dln.2_Missense_Mutation_p.Q161R NM_003716 NP_003707 Q9ULU8 CAPS1_HUMAN Ca2+-dependent secretion activator isoform 1 161 exocytosis|protein transport cell junction|cytoplasmic vesicle membrane|cytosol|synapse lipid binding|metal ion binding central_nervous_system(2)|ovary(1) 3 Lung SC(41;0.0452) BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334) GAGGAAAGCCTGAAACCGGTC 0.463 NA 3 68 0 0 0.004672 0 0 ZNF148 7707 broad.mit.edu 37 3 124951371 124951371 + Missense_Mutation SNP G G C TCGA-55-7573-01A-11D-2036-08 TCGA-55-7573-11A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 36b5181b-9b59-428a-9c0e-45ac9e0d1674 4cc8017b-3238-4cf0-9c04-4a739fe7b511 g.chr3:124951371G>C uc003ehx.3 - 9 2685 c.2199C>G c.(2197-2199)TTC>TTG p.F733L SLC12A8_uc003ehw.3_Intron|ZNF148_uc003ehz.3_Missense_Mutation_p.F733L|ZNF148_uc010hsa.2_Missense_Mutation_p.F733L|ZNF148_uc003eia.3_Missense_Mutation_p.F733L|ZNF148_uc003ehy.2_Missense_Mutation_p.F70L NM_021964 NP_068799 Q9UQR1 ZN148_HUMAN zinc finger protein 148 733 cellular defense response|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter Golgi apparatus|nucleus protein binding|sequence-specific DNA binding|zinc ion binding skin(2)|ovary(1)|pancreas(1) 4 AGGGAGCACGGAAGGGCTGTT 0.493 NA 22 61 0 0 0.010504 0 0 TNK2 10188 broad.mit.edu 37 3 195593860 195593860 + Missense_Mutation SNP G G A TCGA-55-7573-01A-11D-2036-08 TCGA-55-7573-11A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 36b5181b-9b59-428a-9c0e-45ac9e0d1674 4cc8017b-3238-4cf0-9c04-4a739fe7b511 g.chr3:195593860G>A uc003fvu.1 - 14 3553 c.3010C>T c.(3010-3012)CGG>TGG p.R1004W TNK2_uc003fvq.1_Missense_Mutation_p.R413W|TNK2_uc003fvr.1_Missense_Mutation_p.R531W|TNK2_uc003fvs.1_Missense_Mutation_p.R1006W|TNK2_uc003fvt.1_Missense_Mutation_p.R1052W NM_005781 NP_005772 Q07912 ACK1_HUMAN tyrosine kinase, non-receptor, 2 isoform 1 1004 Missing (in Ref. 4; AAH08884). positive regulation of peptidyl-tyrosine phosphorylation|protein ubiquitination|small GTPase mediated signal transduction adherens junction|cytoplasmic vesicle membrane|endosome|nucleus ATP binding|GTPase inhibitor activity|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding ovary(3)|central_nervous_system(3)|lung(2)|stomach(1)|skin(1) 10 all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;0.000757) Adenosine triphosphate(DB00171) CCTCTGGGCCGCAGACCCAGC 0.682 NA 3 30 0 0 0.004672 0 0 SCFD2 152579 broad.mit.edu 37 4 53786890 53786890 + Splice_Site SNP G G A TCGA-55-7573-01A-11D-2036-08 TCGA-55-7573-11A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 36b5181b-9b59-428a-9c0e-45ac9e0d1674 4cc8017b-3238-4cf0-9c04-4a739fe7b511 g.chr4:53786890G>A uc003gzu.2 - 6 1841 c.1707_splice c.e6+1 p.Q569_splice SCFD2_uc010igm.2_Splice_Site_p.Q569_splice NM_152540 NP_689753 Q8WU76 SCFD2_HUMAN sec1 family domain containing 2 protein transport|vesicle docking involved in exocytosis ovary(2)|pancreas(1) 3 GBM - Glioblastoma multiforme(3;1.07e-26)|LUSC - Lung squamous cell carcinoma(32;0.0134) GTATATACTTGCCTGGTGGGT 0.373 NA 6 46 0 0 0.001168 0 0 TECRL 253017 broad.mit.edu 37 4 65274985 65274985 + Missense_Mutation SNP C C A TCGA-55-7573-01A-11D-2036-08 TCGA-55-7573-11A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 36b5181b-9b59-428a-9c0e-45ac9e0d1674 4cc8017b-3238-4cf0-9c04-4a739fe7b511 g.chr4:65274985C>A uc003hcv.2 - 1 194 c.85G>T c.(85-87)GAT>TAT p.D29Y TECRL_uc003hcw.2_Missense_Mutation_p.D29Y NM_001010874 NP_001010874 Q5HYJ1 TECRL_HUMAN steroid 5 alpha-reductase 2-like 2 29 lipid metabolic process cytoplasm|integral to membrane oxidoreductase activity, acting on the CH-CH group of donors 0 TTTCTCATATCATCCTTCAGT 0.428 NA 13 54 3.27435e-08 4.2029e-08 0.00245 1 0 KIAA1109 84162 broad.mit.edu 37 4 123192658 123192658 + Missense_Mutation SNP G G A TCGA-55-7573-01A-11D-2036-08 TCGA-55-7573-11A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 36b5181b-9b59-428a-9c0e-45ac9e0d1674 4cc8017b-3238-4cf0-9c04-4a739fe7b511 g.chr4:123192658G>A uc003ieh.2 + 45 8024 c.7979G>A c.(7978-7980)AGA>AAA p.R2660K KIAA1109_uc003iel.1_Missense_Mutation_p.R595K|KIAA1109_uc003iek.2_Missense_Mutation_p.R1279K NM_015312 NP_056127 Q2LD37 K1109_HUMAN fragile site-associated protein 2660 regulation of cell growth|regulation of epithelial cell differentiation integral to membrane|nucleus ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1) 12 TCATTAGGAAGATCTGAAAGA 0.353 NA 4 20 0 0 0.009096 0 0 KIAA1109 84162 broad.mit.edu 37 4 123192663 123192663 + Missense_Mutation SNP G G A TCGA-55-7573-01A-11D-2036-08 TCGA-55-7573-11A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 36b5181b-9b59-428a-9c0e-45ac9e0d1674 4cc8017b-3238-4cf0-9c04-4a739fe7b511 g.chr4:123192663G>A uc003ieh.2 + 45 8029 c.7984G>A c.(7984-7986)GAA>AAA p.E2662K KIAA1109_uc003iel.1_Missense_Mutation_p.E597K|KIAA1109_uc003iek.2_Missense_Mutation_p.E1281K NM_015312 NP_056127 Q2LD37 K1109_HUMAN fragile site-associated protein 2662 regulation of cell growth|regulation of epithelial cell differentiation integral to membrane|nucleus ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1) 12 AGGAAGATCTGAAAGAAGAAC 0.348 NA 3 19 0 0 0.004672 0 0 CEP72 55722 broad.mit.edu 37 5 639251 639251 + Silent SNP G G T TCGA-55-7573-01A-11D-2036-08 TCGA-55-7573-11A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 36b5181b-9b59-428a-9c0e-45ac9e0d1674 4cc8017b-3238-4cf0-9c04-4a739fe7b511 g.chr5:639251G>T uc003jbf.2 + 8 1326 c.1254G>T c.(1252-1254)CTG>CTT p.L418L CEP72_uc011clz.1_RNA NM_018140 NP_060610 Q9P209 CEP72_HUMAN centrosomal protein 72 kDa 418 G2/M transition of mitotic cell cycle|gamma-tubulin complex localization|spindle organization centrosome|cytosol ovary(1) 1 Epithelial(17;0.000339)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|Lung(60;0.0863) AGACGGCCCTGCAGGCGGCGC 0.632 NA 19 53 1.67942e-08 2.18833e-08 0.006122 1 0 ITGA1 3672 broad.mit.edu 37 5 52235460 52235460 + Missense_Mutation SNP G G A TCGA-55-7573-01A-11D-2036-08 TCGA-55-7573-11A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 36b5181b-9b59-428a-9c0e-45ac9e0d1674 4cc8017b-3238-4cf0-9c04-4a739fe7b511 g.chr5:52235460G>A uc003jou.2 + 25 3171 c.3119G>A c.(3118-3120)AGT>AAT p.S1040N ITGA1_uc003jov.2_RNA|ITGA1_uc003jow.2_Missense_Mutation_p.S571N NM_181501 NP_852478 P56199 ITA1_HUMAN integrin, alpha 1 precursor 1040 Extracellular (Potential). axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction integrin complex collagen binding|receptor activity ovary(2)|lung(1) 3 Lung NSC(810;5.05e-05)|Breast(144;0.0851) GATCCTTTCAGTATCAACTCT 0.358 NA 5 20 0 0 0.001168 0 0 CDHR2 54825 broad.mit.edu 37 5 176019778 176019778 + Missense_Mutation SNP C C G TCGA-55-7573-01A-11D-2036-08 TCGA-55-7573-11A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 36b5181b-9b59-428a-9c0e-45ac9e0d1674 4cc8017b-3238-4cf0-9c04-4a739fe7b511 g.chr5:176019778C>G uc003mem.1 + 31 3855 c.3789C>G c.(3787-3789)ATC>ATG p.I1263M CDHR2_uc003men.1_Missense_Mutation_p.I1263M NM_017675 NP_060145 Q9BYE9 CDHR2_HUMAN protocadherin LKC precursor 1263 Cytoplasmic (Potential). homophilic cell adhesion|negative regulation of cell growth apical plasma membrane|cell junction|integral to membrane calcium ion binding|protein binding ovary(2) 2 GTCAGGAAATCAAGGCAAGAT 0.552 NA 23 53 0 0 0.00632 0 0 HLA-A 3105 broad.mit.edu 37 6 29910607 29910607 + Silent SNP G G C rs72555397 TCGA-55-7573-01A-11D-2036-08 TCGA-55-7573-11A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 36b5181b-9b59-428a-9c0e-45ac9e0d1674 4cc8017b-3238-4cf0-9c04-4a739fe7b511 g.chr6:29910607G>C uc003nol.2 + 2 147 c.147G>C c.(145-147)GTG>GTC p.V49V HLA-G_uc011dmb.1_Intron|HCG4P6_uc003nog.1_Intron|HLA-A_uc010jrq.2_5'UTR|HLA-A_uc003nok.2_5'UTR|HLA-A_uc003non.2_Silent_p.V49V|HLA-A_uc003noo.2_Silent_p.V49V|HLA-A_uc010jrr.2_Silent_p.V49V|HLA-A_uc003nom.2_5'UTR|HLA-A_uc010klp.2_Silent_p.V21V|HLA-A_uc011dmc.1_5'UTR|HLA-A_uc011dmd.1_5'Flank NM_002116 NP_002107 P30443 1A01_HUMAN major histocompatibility complex, class I, A 49 Extracellular (Potential).|Alpha-1. antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway integral to plasma membrane|MHC class I protein complex MHC class I receptor activity upper_aerodigestive_tract(1)|ovary(1) 2 TCATCGCCGTGGGCTACGTGG 0.692 NA Melanoma_Familial_Clustering_of|Lichen_Sclerosis_et_Atrophicus_Familial_Clustering_of|Osteosarcoma_Familial_Clustering_of|Naso-/Oropharyngeal/Laryngeal_Cancer_Familial_Clustering_of Multiple Myeloma(9;0.094) 7 32 0 0 0.004482 0 0 DNAH8 1769 broad.mit.edu 37 6 38843499 38843499 + Missense_Mutation SNP G G A TCGA-55-7573-01A-11D-2036-08 TCGA-55-7573-11A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 36b5181b-9b59-428a-9c0e-45ac9e0d1674 4cc8017b-3238-4cf0-9c04-4a739fe7b511 g.chr6:38843499G>A uc003ooe.1 + 51 7702 c.7102G>A c.(7102-7104)GAA>AAA p.E2368K NM_001371 NP_001362 dynein, axonemal, heavy polypeptide 8 skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1) 21 AGAAAGCAGAGAAAAGCTTGA 0.398 NA 4 43 0 0 0.001168 0 0 L3MBTL3 84456 broad.mit.edu 37 6 130425623 130425623 + Missense_Mutation SNP C C A TCGA-55-7573-01A-11D-2036-08 TCGA-55-7573-11A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 36b5181b-9b59-428a-9c0e-45ac9e0d1674 4cc8017b-3238-4cf0-9c04-4a739fe7b511 g.chr6:130425623C>A uc003qbt.2 + 19 1959 c.1789C>A c.(1789-1791)CCA>ACA p.P597T L3MBTL3_uc003qbu.2_Missense_Mutation_p.P572T NM_032438 NP_115814 Q96JM7 LMBL3_HUMAN l(3)mbt-like 3 isoform a 597 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ovary(5)|skin(1) 6 GBM - Glioblastoma multiforme(226;0.0266)|OV - Ovarian serous cystadenocarcinoma(155;0.154) CCGTATTTTTCCAGACCGCTT 0.378 NA 35 48 2.66277e-13 3.88132e-13 0.006999 1 0 FTSJ2 29960 broad.mit.edu 37 7 2279318 2279318 + Silent SNP G G A TCGA-55-7573-01A-11D-2036-08 TCGA-55-7573-11A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 36b5181b-9b59-428a-9c0e-45ac9e0d1674 4cc8017b-3238-4cf0-9c04-4a739fe7b511 g.chr7:2279318G>A uc003slm.2 - 2 62 c.33C>T c.(31-33)TCC>TCT p.S11S FTSJ2_uc003slk.2_Intron|FTSJ2_uc003sll.2_5'UTR|FTSJ2_uc003sln.2_RNA|FTSJ2_uc003slo.2_Intron|NUDT1_uc003slp.1_5'Flank|NUDT1_uc003slq.1_5'Flank|NUDT1_uc003slr.1_5'Flank|NUDT1_uc003sls.1_5'Flank|NUDT1_uc003slt.1_5'Flank NM_013393 NP_037525 Q9UI43 RRMJ2_HUMAN FtsJ homolog 2 11 cell proliferation mitochondrion|nucleolus nucleic acid binding|rRNA (uridine-2'-O-)-methyltransferase activity ovary(1) 1 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0822)|OV - Ovarian serous cystadenocarcinoma(56;2.7e-14) GACGCTGAAAGGAAACACACA 0.453 NA 13 86 0 0 0.006122 0 0 SNX8 29886 broad.mit.edu 37 7 2309240 2309240 + Missense_Mutation SNP C C A TCGA-55-7573-01A-11D-2036-08 TCGA-55-7573-11A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 36b5181b-9b59-428a-9c0e-45ac9e0d1674 4cc8017b-3238-4cf0-9c04-4a739fe7b511 g.chr7:2309240C>A uc003slw.2 - 5 618 c.575G>T c.(574-576)TGC>TTC p.C192F NM_013321 NP_037453 Q9Y5X2 SNX8_HUMAN sorting nexin 8 192 cell communication|early endosome to Golgi transport|intracellular protein transport early endosome membrane phosphatidylinositol binding|protein binding large_intestine(1)|ovary(1) 2 Ovarian(82;0.11) UCEC - Uterine corpus endometrioid carcinoma (27;0.0853)|OV - Ovarian serous cystadenocarcinoma(56;3.79e-14) GTCCCCGACGCACTGTGCTGA 0.378 NA 7 28 1.26484e-09 1.69964e-09 0.00308 1 0 PKD1L1 168507 broad.mit.edu 37 7 47882684 47882684 + Missense_Mutation SNP A A G TCGA-55-7573-01A-11D-2036-08 TCGA-55-7573-11A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 36b5181b-9b59-428a-9c0e-45ac9e0d1674 4cc8017b-3238-4cf0-9c04-4a739fe7b511 g.chr7:47882684A>G uc003tny.1 - 34 5321 c.5321T>C c.(5320-5322)GTA>GCA p.V1774A NM_138295 NP_612152 Q8TDX9 PK1L1_HUMAN polycystin-1L1 1774 Cytoplasmic (Potential). cell-cell adhesion integral to membrane ovary(8)|upper_aerodigestive_tract(2)|breast(1) 11 ATGATGATCTACTTGTCTACT 0.413 NA 6 23 0 0 0.001984 0 0 EGFR 1956 broad.mit.edu 37 7 55242490 55242490 + Missense_Mutation SNP A A G TCGA-55-7573-01A-11D-2036-08 TCGA-55-7573-11A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 36b5181b-9b59-428a-9c0e-45ac9e0d1674 4cc8017b-3238-4cf0-9c04-4a739fe7b511 g.chr7:55242490A>G uc003tqk.2 + 19 2506 c.2260A>G c.(2260-2262)AAA>GAA p.K754E EGFR_uc010kzg.1_Missense_Mutation_p.K709E|EGFR_uc011kco.1_Missense_Mutation_p.K701E NM_005228 NP_005219 P00533 EGFR_HUMAN epidermal growth factor receptor isoform a 754 Cytoplasmic (Potential).|Protein kinase. Missing (found in a lung cancer sample). 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.S752_I759del(15)|p.T751_I759>N(8)|p.T751_I759>S(3)|p.A750_E758>P(3)|p.A750_K757del(2)|p.A750_E758del(2)|p.T751_I759>NKA(2)|p.E749_E758>QP(2)|p.T751_E758del(2)|p.K754E(2)|p.L747_K754>ST(1)|p.L747_N756>SKDD(1)|p.T751_E758>A(1)|p.T751_I759>REA(1)|p.L747_A755del(1)|p.P753_I759del(1)|p.K754R(1)|p.K754K(1)|p.K754A(1)|p.L747_A755>SKS(1)|p.L747_K754>N(1)|p.A750_K754del(1)|p.L747_K754del(1)|p.L747_K754>GC(1)|p.S752_V769del(1) 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) AACATCTCCGAAAGCCAACAA 0.493 8 A|O|Mis glioma|NSCLC NSCLC Lung_Cancer_Familial_Clustering_of TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08) 9 34 0 0 0.006214 0 0 CUL1 8454 broad.mit.edu 37 7 148497609 148497609 + Missense_Mutation SNP C C G TCGA-55-7573-01A-11D-2036-08 TCGA-55-7573-11A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 36b5181b-9b59-428a-9c0e-45ac9e0d1674 4cc8017b-3238-4cf0-9c04-4a739fe7b511 g.chr7:148497609C>G uc010lpg.2 + 22 2792 c.2266C>G c.(2266-2268)CTA>GTA p.L756V CUL1_uc003wey.2_Missense_Mutation_p.L756V|CUL1_uc003wez.2_Missense_Mutation_p.L646V|CUL1_uc003wfa.2_Missense_Mutation_p.L417V NM_003592 NP_003583 Q13616 CUL1_HUMAN cullin 1 756 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein ubiquitination|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process cytosol|nucleoplasm|SCF ubiquitin ligase complex ubiquitin protein ligase binding lung(1) 1 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00291) CATTGACATTCTAATTGAGAA 0.428 NA 9 32 0 0 0.004482 0 0 DNAJB6 10049 broad.mit.edu 37 7 157174955 157174955 + Missense_Mutation SNP A A T TCGA-55-7573-01A-11D-2036-08 TCGA-55-7573-11A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 36b5181b-9b59-428a-9c0e-45ac9e0d1674 4cc8017b-3238-4cf0-9c04-4a739fe7b511 g.chr7:157174955A>T uc003wnk.2 + 6 516 c.362A>T c.(361-363)GAC>GTC p.D121V DNAJB6_uc003wnj.2_Missense_Mutation_p.D121V|DNAJB6_uc003wnl.2_Missense_Mutation_p.D108V|DNAJB6_uc011kvy.1_Missense_Mutation_p.D72V|DNAJB6_uc011kvz.1_Intron|DNAJB6_uc010lqt.2_Missense_Mutation_p.D121V NM_058246 NP_490647 O75190 DNJB6_HUMAN DnaJ (Hsp40) homolog, subfamily B, member 6 121 Gly/Phe-rich.|Interaction with HSP70.|Interaction with KRT18. intermediate filament organization|negative regulation of caspase activity|protein folding|response to unfolded protein nucleus|perinuclear region of cytoplasm ATPase activator activity|chaperone binding|heat shock protein binding|unfolded protein binding ovary(2) 2 all_neural(206;0.181) all_epithelial(9;0.000606)|all_hematologic(28;0.00287)|Acute lymphoblastic leukemia(9;0.0647)|Ovarian(593;0.196) OV - Ovarian serous cystadenocarcinoma(82;0.00399) UCEC - Uterine corpus endometrioid carcinoma (81;0.172) CCTTTTGAGGACTTCTTTGGG 0.418 Esophageal Squamous(46;195 967 1350 20350 43814) NA 11 39 0 0 0.008291 0 0 LETM2 137994 broad.mit.edu 37 8 38250462 38250462 + Missense_Mutation SNP G G T TCGA-55-7573-01A-11D-2036-08 TCGA-55-7573-11A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 36b5181b-9b59-428a-9c0e-45ac9e0d1674 4cc8017b-3238-4cf0-9c04-4a739fe7b511 g.chr8:38250462G>T uc003xlm.1 + 3 480 c.309G>T c.(307-309)ATG>ATT p.M103I LETM2_uc003xlk.2_Missense_Mutation_p.M150I|LETM2_uc011lbn.1_5'UTR|LETM2_uc003xll.1_Missense_Mutation_p.M103I|LETM2_uc003xln.1_5'UTR|LETM2_uc003xlo.1_5'UTR NM_144652 NP_653253 Q2VYF4 LETM2_HUMAN leucine zipper-EF-hand containing transmembrane 150 LETM1.|Mitochondrial intermembrane (Potential). integral to membrane|mitochondrial inner membrane 0 all_cancers(2;6.77e-47)|all_epithelial(2;1.01e-50)|all_lung(3;1.25e-23)|Lung NSC(2;2.76e-23)|Colorectal(12;0.000442)|Esophageal squamous(3;0.00202) all_lung(54;0.0657)|Hepatocellular(245;0.152)|Lung NSC(58;0.175) Epithelial(3;1.17e-42)|all cancers(3;5.44e-38)|BRCA - Breast invasive adenocarcinoma(5;5.44e-27)|LUSC - Lung squamous cell carcinoma(2;7.12e-25)|Lung(2;4.49e-22)|COAD - Colon adenocarcinoma(9;0.114) CTGCCAGAATGGTTTGGAGGC 0.373 NA 9 15 1.11149e-13 1.70693e-13 0.008291 1 0 ZFHX4 79776 broad.mit.edu 37 8 77617547 77617548 + Missense_Mutation DNP GG GG CT rs13250763 TCGA-55-7573-01A-11D-2036-08 TCGA-55-7573-11A-01D-2036-08 GG GG - - GG GG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 36b5181b-9b59-428a-9c0e-45ac9e0d1674 4cc8017b-3238-4cf0-9c04-4a739fe7b511 g.chr8:77617547_77617548GG>CT uc003yav.2 + 2 1611_1612 c.1224_1225GG>CT c.(1222-1227)CTGGGG>CTCTGG p.G409W ZFHX4_uc003yat.1_Missense_Mutation_p.G409W|ZFHX4_uc003yau.1_Missense_Mutation_p.G409W|ZFHX4_uc003yaw.1_Missense_Mutation_p.G409W NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN zinc finger homeodomain 4 409 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) AAGTGAATCTGGGGGGGCTGTC 0.535 NA HNSCC(33;0.089) 7 16 0 0 0.004672 0 0 FAM75C1 441452 broad.mit.edu 37 9 90538360 90538360 + Missense_Mutation SNP C C G TCGA-55-7573-01A-11D-2036-08 TCGA-55-7573-11A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 36b5181b-9b59-428a-9c0e-45ac9e0d1674 4cc8017b-3238-4cf0-9c04-4a739fe7b511 g.chr9:90538360C>G uc010mqi.2 + 4 3567 c.3538C>G c.(3538-3540)CCC>GCC p.P1180A FAM75C1_uc004apq.3_Missense_Mutation_p.P1163A NM_001145124 NP_001138596 family with sequence similarity 75, member C1 0 GCCGAAGACACCCAGTGCCTC 0.542 NA 3 69 0 0 0.009096 0 0 LAMC3 10319 broad.mit.edu 37 9 133936562 133936562 + Missense_Mutation SNP C C T TCGA-55-7573-01A-11D-2036-08 TCGA-55-7573-11A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 36b5181b-9b59-428a-9c0e-45ac9e0d1674 4cc8017b-3238-4cf0-9c04-4a739fe7b511 g.chr9:133936562C>T uc004caa.1 + 13 2397 c.2299C>T c.(2299-2301)CCA>TCA p.P767S NM_006059 NP_006050 Q9Y6N6 LAMC3_HUMAN laminin, gamma 3 precursor 767 Laminin EGF-like 7. cell adhesion basement membrane|membrane structural molecule activity ovary(2)|pancreas(1) 3 all_hematologic(7;0.0028) Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551) TACGACCATCCCAGAGAGCCG 0.677 NA 12 18 0 0 0.010729 0 0 GTF3C4 9329 broad.mit.edu 37 9 135553884 135553884 + Missense_Mutation SNP C C T TCGA-55-7573-01A-11D-2036-08 TCGA-55-7573-11A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 36b5181b-9b59-428a-9c0e-45ac9e0d1674 4cc8017b-3238-4cf0-9c04-4a739fe7b511 g.chr9:135553884C>T uc010mzv.2 + 2 1136 c.878C>T c.(877-879)CCG>CTG p.P293L GTF3C4_uc010mzw.2_RNA NM_012204 NP_036336 Q9UKN8 TF3C4_HUMAN general transcription factor IIIC 4 293 transcription initiation from RNA polymerase III promoter transcription factor TFIIIC complex DNA binding|enzyme activator activity|histone acetyltransferase activity|protein binding ovary(1)|central_nervous_system(1) 2 OV - Ovarian serous cystadenocarcinoma(145;8.15e-07)|Epithelial(140;2.6e-05) TTTCAGCTGCCGTTTGTAGGA 0.473 Pancreas(142;417 1875 11086 31973 47667) NA 6 50 0 0 0.001168 0 0 SDCCAG3 10807 broad.mit.edu 37 9 139301868 139301868 + Missense_Mutation SNP C C A TCGA-55-7573-01A-11D-2036-08 TCGA-55-7573-11A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 36b5181b-9b59-428a-9c0e-45ac9e0d1674 4cc8017b-3238-4cf0-9c04-4a739fe7b511 g.chr9:139301868C>A uc004chi.2 - 5 753 c.548G>T c.(547-549)GGA>GTA p.G183V SDCCAG3_uc004chj.2_Missense_Mutation_p.G160V|SDCCAG3_uc004chk.2_Missense_Mutation_p.G110V NM_001039707 NP_001034796 Q96C92 SDCG3_HUMAN serologically defined colon cancer antigen 3 183 cytoplasm 0 Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;8.18e-06)|Epithelial(140;9.31e-06) CCCACTCCATCCGGTGTCCTC 0.622 NA 5 20 1.23904e-05 1.47996e-05 0.000602 1 0 MTMR8 55613 broad.mit.edu 37 X 63444984 63444984 + Missense_Mutation SNP C C A TCGA-55-7573-01A-11D-2036-08 TCGA-55-7573-11A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 36b5181b-9b59-428a-9c0e-45ac9e0d1674 4cc8017b-3238-4cf0-9c04-4a739fe7b511 g.chrX:63444984C>A uc011mou.1 - 10 1740 c.1672G>T c.(1672-1674)GGC>TGC p.G558C ASB12_uc004dvp.1_Missense_Mutation_p.G174C|ASB12_uc004dvq.1_Missense_Mutation_p.G183C|ASB12_uc004dvr.1_Missense_Mutation_p.G183C NM_017677 NP_060147 Q96EF0 MTMR8_HUMAN myotubularin related protein 8 Error:Variant_position_missing_in_Q96EF0_after_alignment nuclear envelope protein tyrosine phosphatase activity ovary(2)|breast(2) 4 TAGAGGGGGCCAGAACATGAA 0.562 NA 6 18 0.00198382 0.00221569 0.001984 1 0 DLG3 1741 broad.mit.edu 37 X 69719800 69719800 + Missense_Mutation SNP G G A TCGA-55-7573-01A-11D-2036-08 TCGA-55-7573-11A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 36b5181b-9b59-428a-9c0e-45ac9e0d1674 4cc8017b-3238-4cf0-9c04-4a739fe7b511 g.chrX:69719800G>A uc004dyi.1 + 16 2374 c.2046G>A c.(2044-2046)ATG>ATA p.M682I DLG3_uc004dyj.1_Missense_Mutation_p.M377I|DLG3_uc011mpn.1_Missense_Mutation_p.M230I NM_021120 NP_066943 Q92796 DLG3_HUMAN synapse-associated protein 102 isoform a 682 Guanylate kinase-like. axon guidance|negative regulation of cell proliferation|synaptic transmission plasma membrane guanylate kinase activity large_intestine(1)|pancreas(1) 2 Renal(35;0.156) GAGAACAAATGGAGAAAGATA 0.488 NA 5 26 0 0 0.000602 0 0 AFF2 2334 broad.mit.edu 37 X 148055037 148055037 + Missense_Mutation SNP G G T TCGA-55-7573-01A-11D-2036-08 TCGA-55-7573-11A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 36b5181b-9b59-428a-9c0e-45ac9e0d1674 4cc8017b-3238-4cf0-9c04-4a739fe7b511 g.chrX:148055037G>T uc004fcp.2 + 16 3783 c.3304G>T c.(3304-3306)GCC>TCC p.A1102S AFF2_uc004fcq.2_Missense_Mutation_p.A1092S|AFF2_uc004fcr.2_Missense_Mutation_p.A1063S|AFF2_uc011mxb.1_Missense_Mutation_p.A1067S|AFF2_uc004fcs.2_Missense_Mutation_p.A1067S|AFF2_uc011mxc.1_Missense_Mutation_p.A743S NM_002025 NP_002016 P51816 AFF2_HUMAN fragile X mental retardation 2 1102 brain development|mRNA processing|regulation of RNA splicing|RNA splicing nuclear speck G-quadruplex RNA binding|protein binding ovary(3)|pancreas(2) 5 Acute lymphoblastic leukemia(192;6.56e-05) TTATGCTGATGCCGCCCTCTC 0.453 NA 20 48 2.37509e-13 3.52169e-13 0.010504 1 0 ELF3 1999 broad.mit.edu 37 1 201983060 201983060 + Frame_Shift_Del DEL C C - TCGA-55-7573-01A-11D-2036-08 TCGA-55-7573-11A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 36b5181b-9b59-428a-9c0e-45ac9e0d1674 4cc8017b-3238-4cf0-9c04-4a739fe7b511 g.chr1:201983060delC uc001gxg.3 + 7 4101 c.909delC c.(907-909)TTCfs p.F303fs ELF3_uc001gxi.3_Frame_Shift_Del_p.F303fs|ELF3_uc001gxh.3_Frame_Shift_Del_p.F303fs NM_004433 NP_004424 P78545 ELF3_HUMAN E74-like factor 3 (ets domain transcription 303 ETS. epidermis development|epithelial cell differentiation|inflammatory response|mammary gland involution|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter Golgi apparatus|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity 0 AAGGCGTCTTCAAGTTCCTGC 0.582 NA 11 20 --- --- --- --- NA NA NA NA NA OBSCN 84033 broad.mit.edu 37 1 228560034 228560034 + Frame_Shift_Del DEL C C - rs36119328 by1000genomes TCGA-55-7573-01A-11D-2036-08 TCGA-55-7573-11A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 36b5181b-9b59-428a-9c0e-45ac9e0d1674 4cc8017b-3238-4cf0-9c04-4a739fe7b511 g.chr1:228560034delC uc009xez.1 + 94 21599 c.21555delC c.(21553-21555)TACfs p.Y7185fs OBSCN_uc001hsr.1_Frame_Shift_Del_p.Y1814fs NM_001098623 NP_001092093 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and 7185 apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1) 28 Prostate(94;0.0405) GCGGGGGCTACGCAGGCGTGG 0.667 NA 5 4 --- --- --- --- NA NA NA NA NA DUXA 503835 broad.mit.edu 37 19 57666695 57666695 + Frame_Shift_Del DEL T T - TCGA-55-7573-01A-11D-2036-08 TCGA-55-7573-11A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 36b5181b-9b59-428a-9c0e-45ac9e0d1674 4cc8017b-3238-4cf0-9c04-4a739fe7b511 g.chr19:57666695delT uc002qoa.1 - 5 529 c.484delA c.(484-486)AGGfs p.R162fs NM_001012729 NP_001012747 A6NLW8 DUXA_HUMAN double homeobox A 162 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0123) ACAGGTTCCCTTTTTCTCTGG 0.408 NA 7 54 --- --- --- --- NA NA NA NA NA TADA2B 93624 broad.mit.edu 37 4 7056195 7056196 + Frame_Shift_Ins INS - - C rs75397160 TCGA-55-7573-01A-11D-2036-08 TCGA-55-7573-11A-01D-2036-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 36b5181b-9b59-428a-9c0e-45ac9e0d1674 4cc8017b-3238-4cf0-9c04-4a739fe7b511 g.chr4:7056195_7056196insC uc003gjw.3 + 2 828_829 c.677_678insC c.(676-678)TACfs p.Y226fs TADA2B_uc010idi.2_Frame_Shift_Ins_p.Y151fs NM_152293 NP_689506 Q86TJ2 TAD2B_HUMAN transcriptional adaptor 2 (ADA2 homolog, 226 regulation of transcription, DNA-dependent|transcription, DNA-dependent DNA binding|zinc ion binding 0 GCCCGTGACTACAATCTGGTGC 0.579 NA 31 105 --- --- --- --- NA NA NA NA NA EGFR 1956 broad.mit.edu 37 7 55242466 55242474 + In_Frame_Del DEL GAATTAAGA GAATTAAGA - rs121913426 TCGA-55-7573-01A-11D-2036-08 TCGA-55-7573-11A-01D-2036-08 GAATTAAGA GAATTAAGA - - GAATTAAGA GAATTAAGA Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 36b5181b-9b59-428a-9c0e-45ac9e0d1674 4cc8017b-3238-4cf0-9c04-4a739fe7b511 g.chr7:55242466_55242474delGAATTAAGA uc003tqk.2 + 19 2482_2490 c.2236_2244delGAATTAAGA c.(2236-2244)GAATTAAGAdel p.ELR746del EGFR_uc010kzg.1_In_Frame_Del_p.ELR701del|EGFR_uc011kco.1_In_Frame_Del_p.ELR693del NM_005228 NP_005219 P00533 EGFR_HUMAN epidermal growth factor receptor isoform a 746_748 Cytoplasmic (Potential).|Protein kinase. R -> P (found in a lung cancer sample).|Missing (found in a lung cancer sample).|Missing (found in a lung cancer sample). 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.E746_A750del(1613)|p.L747_P753>S(110)|p.L747_A750>P(74)|p.E746_S752>V(67)|p.L747_T751del(62)|p.E746_T751>A(30)|p.L747_S752del(28)|p.L747_T751>P(20)|p.E746_T751del(18)|p.L747_E749del(18)|p.K745_E749del(14)|p.E746_E749del(12)|p.E746_S752del(10)|p.L747_T751>S(7)|p.L747_P753>Q(7)|p.E746_P753>VS(6)|p.E746_A750>IP(5)|p.L747_T751>Q(5)|p.E746_T751>I(5)|p.E746_T751>V(5)|p.E746_S752>A(5)|p.E746_T751>IP(5)|p.E746_A750>QP(4)|p.E746V(4)|p.E746_S752>D(4)|p.K745_A750del(4)|p.L747S(3)|p.L747_S752>Q(3)|p.E746_T751>VA(3)|p.E746_T751>VP(3)|p.E746_A750>RP(2)|p.E746_A750>S(2)|p.E746_S752>T(2)|p.E746_T751>Q(2)|p.E746_T751>S(2)|p.E746_A750>DP(2)|p.E746_T751>L(2)|p.E746K(2)|p.E746_P753del(2)|p.E746_S752>I(2)|p.K745_E746insVPVAIK(2)|p.E746_A750>AP(2)|p.L747_K754>ST(1)|p.E746_A750>A(1)|p.E746_T751>P(1)|p.E746del(1)|p.L747_S752>QH(1)|p.L747P(1)|p.E746_A750>VP(1)|p.L747_K754>N(1)|p.L747_R748>FP(1)|p.K745_L747del(1)|p.L747_T751>A(1)|p.E746_P753>LS(1)|p.E746_P753>VQ(1)|p.E746_T751>LS(1)|p.E746_R748del(1)|p.I744_A750>VK(1)|p.E746I(1)|p.L747_K754del(1)|p.R748I(1)|p.E746_A750>KP(1)|p.E746_A750>EP(1) 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) CGCTATCAAGGAATTAAGAGAAGCAACAT 0.478 E746_A750del(NCIH1650_LUNG)|E746K(HCC827_LUNG)|E746_A750del(PC14_LUNG)|L747_P753>Q(HCC4006_LUNG) 8 A|O|Mis glioma|NSCLC NSCLC Lung_Cancer_Familial_Clustering_of TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08) 11 50 --- --- --- --- NA NA NA NA NA