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 SPEN 23013 broad.mit.edu 37 1 16260282 16260282 + Missense_Mutation SNP C C T TCGA-49-4501-01A-01D-1265-08 TCGA-49-4501-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0c53bb1b-5e6f-44a8-97a0-f89d43e0e789 3f0cb3e3-47ac-433e-af67-ae24596e7d6b g.chr1:16260282C>T uc001axk.1 + 11 7751 c.7547C>T c.(7546-7548)CCA>CTA p.P2516L SPEN_uc010obp.1_Missense_Mutation_p.P2475L NM_015001 NP_055816 Q96T58 MINT_HUMAN spen homolog, transcriptional regulator 2516 RID.|Pro-rich. interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway nucleus nucleotide binding|protein binding|RNA binding ovary(6)|breast(3)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1) 15 Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681) ACTCCATCTCCAGCTCTTCCC 0.582 NA 96 338 0 0 0.01441 0 0 GRHL3 57822 broad.mit.edu 37 1 24663569 24663569 + Missense_Mutation SNP C C T TCGA-49-4501-01A-01D-1265-08 TCGA-49-4501-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0c53bb1b-5e6f-44a8-97a0-f89d43e0e789 3f0cb3e3-47ac-433e-af67-ae24596e7d6b g.chr1:24663569C>T uc001biy.2 + 5 675 c.629C>T c.(628-630)TCG>TTG p.S210L GRHL3_uc001bix.2_Missense_Mutation_p.S205L|GRHL3_uc001biz.2_Missense_Mutation_p.S112L NM_021180 NP_067003 Q8TE85 GRHL3_HUMAN sister-of-mammalian grainyhead protein isoform 205 regulation of actin cytoskeleton organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding ovary(1) 1 Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143) TCTCTGCAGTCGATGCTCTTC 0.438 NA 19 34 0 0 0.010504 0 0 AIM1L 55057 broad.mit.edu 37 1 26655271 26655271 + Missense_Mutation SNP C C T TCGA-49-4501-01A-01D-1265-08 TCGA-49-4501-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0c53bb1b-5e6f-44a8-97a0-f89d43e0e789 3f0cb3e3-47ac-433e-af67-ae24596e7d6b g.chr1:26655271C>T uc001bmd.3 - 15 1703 c.1273G>A c.(1273-1275)GAG>AAG p.E425K NM_001039775 NP_001034864 Q8N1P7 AIM1L_HUMAN absent in melanoma 1-like 425 Beta/gamma crystallin 'Greek key' 9. sugar binding pancreas(1) 1 all_cancers(24;4.67e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.51e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000792)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.00858)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.165)|LUSC - Lung squamous cell carcinoma(448;0.239) TTGAAGCCCTCGGCTTGCAGG 0.602 NA 6 204 0 0 0.001168 0 0 GPBP1L1 60313 broad.mit.edu 37 1 46120493 46120493 + Missense_Mutation SNP G G A TCGA-49-4501-01A-01D-1265-08 TCGA-49-4501-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0c53bb1b-5e6f-44a8-97a0-f89d43e0e789 3f0cb3e3-47ac-433e-af67-ae24596e7d6b g.chr1:46120493G>A uc001coq.2 - 6 1560 c.199C>T c.(199-201)CAC>TAC p.H67Y NM_021639 NP_067652 Q9HC44 GPBL1_HUMAN GC-rich promoter binding protein 1-like 1 67 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding ovary(1) 1 Acute lymphoblastic leukemia(166;0.155) GAGGGCTGGTGCCAAGAATCT 0.463 NA 16 48 0 0 0.00499 0 0 C1orf173 127254 broad.mit.edu 37 1 75038612 75038612 + Missense_Mutation SNP A A T TCGA-49-4501-01A-01D-1265-08 TCGA-49-4501-11A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0c53bb1b-5e6f-44a8-97a0-f89d43e0e789 3f0cb3e3-47ac-433e-af67-ae24596e7d6b g.chr1:75038612A>T uc001dgg.2 - 14 3001 c.2782T>A c.(2782-2784)TCG>ACG p.S928T NM_001002912 NP_001002912 Q5RHP9 CA173_HUMAN hypothetical protein LOC127254 928 Glu-rich. ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1) 5 CCCTCCTCCGATGTCGCTGCC 0.552 NA 11 184 0 0 0.008291 0 0 MYBPHL 343263 broad.mit.edu 37 1 109838959 109838959 + Missense_Mutation SNP C C T TCGA-49-4501-01A-01D-1265-08 TCGA-49-4501-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0c53bb1b-5e6f-44a8-97a0-f89d43e0e789 3f0cb3e3-47ac-433e-af67-ae24596e7d6b g.chr1:109838959C>T uc001dxk.1 - 6 814 c.764G>A c.(763-765)CGA>CAA p.R255Q MYBPHL_uc010ovh.1_Missense_Mutation_p.R232Q|MYBPHL_uc001dxl.2_Intron NM_001010985 NP_001010985 A2RUH7 MBPHL_HUMAN myosin binding protein H-like 255 ovary(1)|central_nervous_system(1)|pancreas(1) 3 all_lung(203;0.00519)|all_epithelial(167;0.00575)|Lung NSC(277;0.00822) Colorectal(144;0.0306)|Lung(183;0.0681)|COAD - Colon adenocarcinoma(174;0.117)|Epithelial(280;0.197)|all cancers(265;0.225) AGAGAAGTCTCGTTGGGCAAA 0.557 NA 11 132 0 0 0.008291 0 0 KLHL20 27252 broad.mit.edu 37 1 173703050 173703050 + Silent SNP G G A TCGA-49-4501-01A-01D-1265-08 TCGA-49-4501-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0c53bb1b-5e6f-44a8-97a0-f89d43e0e789 3f0cb3e3-47ac-433e-af67-ae24596e7d6b g.chr1:173703050G>A uc001gjc.2 + 3 401 c.222G>A c.(220-222)GTG>GTA p.V74V KLHL20_uc010pmr.1_Intron|KLHL20_uc009wwf.2_Silent_p.V56V|KLHL20_uc001gjd.2_Silent_p.V74V NM_014458 NP_055273 Q9Y2M5 KLH20_HUMAN kelch-like 20 74 BTB. cytoskeleton organization|negative regulation of apoptosis|proteasomal ubiquitin-dependent protein catabolic process|response to interferon-alpha actin cytoskeleton|cell surface|Cul3-RING ubiquitin ligase complex|Golgi apparatus|perinuclear region of cytoplasm|PML body actin binding|interferon-gamma binding|ubiquitin-protein ligase activity ovary(1) 1 TGCTAGTTGTGGGCGCCAAGA 0.502 GBM(159;862 2695 6559 23041) NA 6 128 0 0 0.001984 0 0 XPR1 9213 broad.mit.edu 37 1 180775220 180775220 + Missense_Mutation SNP G G A TCGA-49-4501-01A-01D-1265-08 TCGA-49-4501-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0c53bb1b-5e6f-44a8-97a0-f89d43e0e789 3f0cb3e3-47ac-433e-af67-ae24596e7d6b g.chr1:180775220G>A uc001goi.2 + 5 662 c.470G>A c.(469-471)CGA>CAA p.R157Q XPR1_uc009wxm.2_Missense_Mutation_p.R157Q|XPR1_uc009wxn.2_Missense_Mutation_p.R157Q NM_004736 NP_004727 Q9UBH6 XPR1_HUMAN xenotropic and polytropic retrovirus receptor 157 SPX.|Cytoplasmic (Potential). integral to plasma membrane G-protein coupled receptor activity 0 ACAGGGTTTCGAAAAATCCTG 0.378 NA 4 74 0 0 0.009096 0 0 CFH 3075 broad.mit.edu 37 1 196684873 196684873 + Missense_Mutation SNP G G T TCGA-49-4501-01A-01D-1265-08 TCGA-49-4501-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0c53bb1b-5e6f-44a8-97a0-f89d43e0e789 3f0cb3e3-47ac-433e-af67-ae24596e7d6b g.chr1:196684873G>T uc001gtj.3 + 11 1910 c.1670G>T c.(1669-1671)GGT>GTT p.G557V NM_000186 NP_000177 P08603 CFAH_HUMAN complement factor H isoform a precursor 557 Sushi 9. complement activation, alternative pathway extracellular space skin(4)|ovary(1)|breast(1) 6 GGTTACAATGGTTGGTCTGAT 0.284 NA 6 192 0.00116845 0.00129295 0.001168 1 0 KDM5B 10765 broad.mit.edu 37 1 202704717 202704717 + Splice_Site SNP T T C TCGA-49-4501-01A-01D-1265-08 TCGA-49-4501-11A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0c53bb1b-5e6f-44a8-97a0-f89d43e0e789 3f0cb3e3-47ac-433e-af67-ae24596e7d6b g.chr1:202704717T>C uc001gyf.2 - 22 3381 c.3265_splice c.e22-1 p.V1089_splice KDM5B_uc009xag.2_Splice_Site_p.V1125_splice|KDM5B_uc001gyg.1_Splice_Site_p.V931_splice NM_006618 NP_006609 Q9UGL1 KDM5B_HUMAN jumonji, AT rich interactive domain 1B negative regulation of transcription, DNA-dependent nucleolus DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding ovary(2)|breast(2)|urinary_tract(1) 5 ACACAGCACCTAATGTGGGAC 0.388 NA 3 126 0 0 0.009096 0 0 HHAT 55733 broad.mit.edu 37 1 210591515 210591515 + Missense_Mutation SNP T T G TCGA-49-4501-01A-01D-1265-08 TCGA-49-4501-11A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0c53bb1b-5e6f-44a8-97a0-f89d43e0e789 3f0cb3e3-47ac-433e-af67-ae24596e7d6b g.chr1:210591515T>G uc009xcx.2 + 7 868 c.702T>G c.(700-702)CAT>CAG p.H234Q HHAT_uc010psq.1_Missense_Mutation_p.H97Q|HHAT_uc001hhz.3_Missense_Mutation_p.H234Q|HHAT_uc010psr.1_Missense_Mutation_p.H235Q|HHAT_uc010pss.1_Missense_Mutation_p.H189Q|HHAT_uc009xcy.2_Missense_Mutation_p.H169Q|HHAT_uc010pst.1_Missense_Mutation_p.H171Q|HHAT_uc010psu.1_Missense_Mutation_p.H169Q NM_001122834 NP_001116306 Q5VTY9 HHAT_HUMAN hedgehog acyltransferase 234 multicellular organismal development endoplasmic reticulum membrane|integral to membrane GTP binding ovary(2) 2 OV - Ovarian serous cystadenocarcinoma(81;0.0136)|all cancers(67;0.161)|KIRC - Kidney renal clear cell carcinoma(1967;0.215) AGCAGGAGCATGACTCCCTGA 0.527 NA 6 286 0 0 0.001168 0 0 CCDC3 83643 broad.mit.edu 37 10 12940429 12940429 + Missense_Mutation SNP T T C TCGA-49-4501-01A-01D-1265-08 TCGA-49-4501-11A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0c53bb1b-5e6f-44a8-97a0-f89d43e0e789 3f0cb3e3-47ac-433e-af67-ae24596e7d6b g.chr10:12940429T>C uc001ilq.1 - 3 934 c.800A>G c.(799-801)TAC>TGC p.Y267C CCDC3_uc009xjb.1_RNA|CCDC3_uc001ilr.2_RNA|CCDC3_uc009xjc.1_RNA NM_031455 NP_113643 Q9BQI4 CCDC3_HUMAN coiled-coil domain containing 3 precursor 267 endoplasmic reticulum|extracellular region ovary(1) 1 Ovarian(717;0.0822) BRCA - Breast invasive adenocarcinoma(52;0.163) CCCCCGCAGGTAGGGGGGGCG 0.647 NA 8 8 0 0 0.006214 0 0 HSD17B7P2 158160 broad.mit.edu 37 10 38654432 38654432 + Missense_Mutation SNP A A G rs2257765 TCGA-49-4501-01A-01D-1265-08 TCGA-49-4501-11A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0c53bb1b-5e6f-44a8-97a0-f89d43e0e789 3f0cb3e3-47ac-433e-af67-ae24596e7d6b g.chr10:38654432A>G uc010qex.1 + 5 599 c.524A>G c.(523-525)AAT>AGT p.N175S HSD17B7P2_uc001izq.2_RNA|HSD17B7P2_uc001izo.1_RNA|HSD17B7P2_uc001izp.1_Missense_Mutation_p.N173S SubName: Full=cDNA FLJ60462, highly similar to 3-keto-steroid reductase (EC 1.1.1.270); 0 TCATCTCGCAATGCAAGGAAA 0.453 NA 3 87 0 0 0.004672 0 0 MYPN 84665 broad.mit.edu 37 10 69959230 69959230 + Silent SNP C C T TCGA-49-4501-01A-01D-1265-08 TCGA-49-4501-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0c53bb1b-5e6f-44a8-97a0-f89d43e0e789 3f0cb3e3-47ac-433e-af67-ae24596e7d6b g.chr10:69959230C>T uc001jnm.3 + 18 3576 c.3391C>T c.(3391-3393)CTG>TTG p.L1131L MYPN_uc001jnn.3_Silent_p.L856L|MYPN_uc001jno.3_Silent_p.L1131L|MYPN_uc009xpt.2_Silent_p.L1131L|MYPN_uc010qit.1_Silent_p.L837L|MYPN_uc010qiu.1_RNA NM_032578 NP_115967 Q86TC9 MYPN_HUMAN myopalladin 1131 Ig-like 4.|Interaction with ACTN. nucleus|sarcomere actin binding ovary(3)|skin(2) 5 AGTCCACTCTCTGCTCATTGA 0.552 NA 6 78 0 0 0.001168 0 0 ZDHHC16 84287 broad.mit.edu 37 10 99211511 99211511 + Missense_Mutation SNP C C T TCGA-49-4501-01A-01D-1265-08 TCGA-49-4501-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0c53bb1b-5e6f-44a8-97a0-f89d43e0e789 3f0cb3e3-47ac-433e-af67-ae24596e7d6b g.chr10:99211511C>T uc001knj.2 + 3 428 c.79C>T c.(79-81)CGC>TGC p.R27C ZDHHC16_uc001knp.2_Missense_Mutation_p.R27C|ZDHHC16_uc001knk.2_Missense_Mutation_p.R27C|ZDHHC16_uc001knl.2_Missense_Mutation_p.R27C|ZDHHC16_uc001knm.2_Missense_Mutation_p.R27C|ZDHHC16_uc001knn.2_Missense_Mutation_p.R27C|ZDHHC16_uc010qow.1_Missense_Mutation_p.R27C|ZDHHC16_uc009xvq.2_RNA|ZDHHC16_uc001kno.2_Missense_Mutation_p.R27C|ZDHHC16_uc009xvr.2_Missense_Mutation_p.R27C NM_198046 NP_932163 Q969W1 ZDH16_HUMAN Abl-philin 2 isoform 1 27 Cytoplasmic (Potential). apoptosis endoplasmic reticulum membrane|integral to membrane acyltransferase activity|zinc ion binding ovary(1) 1 Colorectal(252;0.0846) Epithelial(162;5.81e-10)|all cancers(201;4.19e-08) TTACAGGCGCCGCTGTCCACC 0.667 NA 10 77 0 0 0.003163 0 0 FAM178A 55719 broad.mit.edu 37 10 102677018 102677018 + Silent SNP G G A TCGA-49-4501-01A-01D-1265-08 TCGA-49-4501-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0c53bb1b-5e6f-44a8-97a0-f89d43e0e789 3f0cb3e3-47ac-433e-af67-ae24596e7d6b g.chr10:102677018G>A uc001krt.3 + 3 1418 c.876G>A c.(874-876)CAG>CAA p.Q292Q FAM178A_uc001krr.1_Silent_p.Q292Q|FAM178A_uc001krs.2_Silent_p.Q292Q|FAM178A_uc001kru.1_Silent_p.Q228Q NM_018121 NP_060591 Q8IX21 F178A_HUMAN hypothetical protein LOC55719 isoform 1 292 0 AAAGGAAACAGAATGACATCA 0.318 NA 14 100 0 0 0.016723 0 0 LOC653544 653544 broad.mit.edu 37 10 135491103 135491103 + Missense_Mutation SNP G G T TCGA-49-4501-01A-01D-1265-08 TCGA-49-4501-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0c53bb1b-5e6f-44a8-97a0-f89d43e0e789 3f0cb3e3-47ac-433e-af67-ae24596e7d6b g.chr10:135491103G>T uc010qvi.1 + 1 825 c.714G>T c.(712-714)TGG>TGT p.W238C NM_001127389 NP_001120861 F5GZ66 F5GZ66_HUMAN double homeobox, 4-like 238 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 CTCCCTCGTGGGTCGCCTTCG 0.766 NA 3 27 1.08611e-07 1.275e-07 0.010729 1 0 SIRT3 23410 broad.mit.edu 37 11 224185 224185 + Missense_Mutation SNP T T C TCGA-49-4501-01A-01D-1265-08 TCGA-49-4501-11A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0c53bb1b-5e6f-44a8-97a0-f89d43e0e789 3f0cb3e3-47ac-433e-af67-ae24596e7d6b g.chr11:224185T>C uc001lok.3 - 5 896 c.862A>G c.(862-864)AAG>GAG p.K288E SIRT3_uc001loj.3_Missense_Mutation_p.K146E|SIRT3_uc010qvm.1_Missense_Mutation_p.K224E|SIRT3_uc010qvn.1_Missense_Mutation_p.K207E|SIRT3_uc010qvo.1_Missense_Mutation_p.K288E|SIRT3_uc010qvp.1_Intron|SIRT3_uc010qvq.1_Missense_Mutation_p.K146E|SIRT3_uc009ybt.1_RNA NM_012239 NP_036371 Q9NTG7 SIRT3_HUMAN sirtuin 3 isoform a 288 Deacetylase sirtuin-type. chromatin silencing|protein ADP-ribosylation|protein deacetylation mitochondrial matrix hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|NAD+ ADP-ribosyltransferase activity|NAD+ binding|protein binding|zinc ion binding urinary_tract(1) 1 all_cancers(49;1.58e-09)|all_epithelial(84;2.71e-06)|Breast(177;0.000162)|Ovarian(85;0.000626)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713) all cancers(45;3.66e-27)|Epithelial(43;2.02e-26)|OV - Ovarian serous cystadenocarcinoma(40;2.9e-21)|BRCA - Breast invasive adenocarcinoma(625;3.88e-05)|Lung(200;0.111)|LUSC - Lung squamous cell carcinoma(625;0.129) ATGTCGGGCTTCACAACGCCG 0.587 NA 3 82 0 0 0.004672 0 0 PTPRJ 5795 broad.mit.edu 37 11 48181542 48181542 + Missense_Mutation SNP G G T TCGA-49-4501-01A-01D-1265-08 TCGA-49-4501-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0c53bb1b-5e6f-44a8-97a0-f89d43e0e789 3f0cb3e3-47ac-433e-af67-ae24596e7d6b g.chr11:48181542G>T uc001ngp.3 + 22 3854 c.3499G>T c.(3499-3501)GCA>TCA p.A1167S NM_002843 NP_002834 Q12913 PTPRJ_HUMAN protein tyrosine phosphatase, receptor type, J 1167 Tyrosine-protein phosphatase.|Cytoplasmic (Potential). contact inhibition|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of T cell receptor signaling pathway|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity breast(3)|kidney(3)|ovary(1)|skin(1) 8 CATAACTGTGGCAATGACATC 0.398 NA 69 156 1.48005e-37 1.80006e-37 0.01441 1 0 ZDHHC5 25921 broad.mit.edu 37 11 57449913 57449913 + Missense_Mutation SNP T T A TCGA-49-4501-01A-01D-1265-08 TCGA-49-4501-11A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0c53bb1b-5e6f-44a8-97a0-f89d43e0e789 3f0cb3e3-47ac-433e-af67-ae24596e7d6b g.chr11:57449913T>A uc001nkx.1 + 3 1380 c.124T>A c.(124-126)TAT>AAT p.Y42N ZDHHC5_uc001nky.1_5'UTR|ZDHHC5_uc001nkz.1_5'UTR NM_015457 NP_056272 Q9C0B5 ZDHC5_HUMAN zinc finger, DHHC domain containing 5 42 Helical; (Potential). integral to membrane acyltransferase activity|zinc ion binding skin(1) 1 ACTAAGCCTGTATGTGTCACC 0.443 NA 21 121 0 0 0.016522 0 0 MS4A4A 51338 broad.mit.edu 37 11 60070165 60070165 + Missense_Mutation SNP G G T TCGA-49-4501-01A-01D-1265-08 TCGA-49-4501-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0c53bb1b-5e6f-44a8-97a0-f89d43e0e789 3f0cb3e3-47ac-433e-af67-ae24596e7d6b g.chr11:60070165G>T uc001noz.2 + 5 531 c.521G>T c.(520-522)TGT>TTT p.C174F MS4A4A_uc001npa.2_Missense_Mutation_p.C155F|MS4A4A_uc001npb.2_Missense_Mutation_p.C155F|MS4A4A_uc001npc.2_Intron NM_148975 NP_683876 Q96JQ5 M4A4A_HUMAN membrane-spanning 4-domains, subfamily A, member 174 Extracellular (Potential). integral to membrane receptor activity 0 TCAAATAATTGTCATGGGACT 0.408 NA 5 157 5.9392e-07 6.912e-07 0.001168 1 0 OR10G7 390265 broad.mit.edu 37 11 123909325 123909325 + Silent SNP C C T TCGA-49-4501-01A-01D-1265-08 TCGA-49-4501-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0c53bb1b-5e6f-44a8-97a0-f89d43e0e789 3f0cb3e3-47ac-433e-af67-ae24596e7d6b g.chr11:123909325C>T uc001pzq.1 - 1 384 c.384G>A c.(382-384)CCG>CCA p.P128P NM_001004463 NP_001004463 Q8NGN6 O10G7_HUMAN olfactory receptor, family 10, subfamily G, 128 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2) 2 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521) TGTACCTGAGCGGGTAACTGA 0.562 NA 12 343 0 0 0.010729 0 0 B4GALNT3 283358 broad.mit.edu 37 12 654047 654047 + Splice_Site SNP G G C TCGA-49-4501-01A-01D-1265-08 TCGA-49-4501-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0c53bb1b-5e6f-44a8-97a0-f89d43e0e789 3f0cb3e3-47ac-433e-af67-ae24596e7d6b g.chr12:654047G>C uc001qii.1 + 5 448 c.448_splice c.e5-1 p.I150_splice B4GALNT3_uc001qij.1_Splice_Site_p.I52_splice NM_173593 NP_775864 Q6L9W6 B4GN3_HUMAN beta Golgi cisterna membrane|integral to membrane N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity ovary(1)|skin(1) 2 all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215) OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262) TCTTGGCATAGATTCGCACAA 0.547 NA 4 89 0 0 0.009096 0 0 ZNF384 171017 broad.mit.edu 37 12 6788136 6788136 + Missense_Mutation SNP G G A TCGA-49-4501-01A-01D-1265-08 TCGA-49-4501-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0c53bb1b-5e6f-44a8-97a0-f89d43e0e789 3f0cb3e3-47ac-433e-af67-ae24596e7d6b g.chr12:6788136G>A uc010sfh.1 - 4 488 c.280C>T c.(280-282)CCG>TCG p.P94S ZNF384_uc001qpz.2_Missense_Mutation_p.P94S|ZNF384_uc001qqa.2_Missense_Mutation_p.P94S|ZNF384_uc001qqb.2_Missense_Mutation_p.P94S|ZNF384_uc001qqc.2_Missense_Mutation_p.P94S|ZNF384_uc001qqd.2_Missense_Mutation_p.P94S|ZNF384_uc001qqe.2_Missense_Mutation_p.P94S|ZNF384_uc009zew.1_5'Flank NM_001135734 NP_001129206 Q8TF68 ZN384_HUMAN nuclear matrix transcription factor 4 isoform d 94 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding EWSR1/ZNF384(4) haematopoietic_and_lymphoid_tissue(4)|central_nervous_system(3)|kidney(1) 8 CCTGTAGACGGCACAGGGACC 0.562 NA T EWSR1|TAF15 ALL 5 181 0 0 0.014758 0 0 LRRK2 120892 broad.mit.edu 37 12 40709014 40709014 + Missense_Mutation SNP G G A TCGA-49-4501-01A-01D-1265-08 TCGA-49-4501-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0c53bb1b-5e6f-44a8-97a0-f89d43e0e789 3f0cb3e3-47ac-433e-af67-ae24596e7d6b g.chr12:40709014G>A uc001rmg.3 + 33 4860 c.4739G>A c.(4738-4740)GGA>GAA p.G1580E LRRK2_uc009zjw.2_Missense_Mutation_p.G418E|LRRK2_uc001rmi.2_Missense_Mutation_p.G413E NM_198578 NP_940980 Q5S007 LRRK2_HUMAN leucine-rich repeat kinase 2 1580 activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb external side of mitochondrial outer membrane ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding ovary(12)|stomach(5)|upper_aerodigestive_tract(2)|lung(2)|large_intestine(1)|urinary_tract(1)|pancreas(1) 24 all_cancers(12;0.00108)|Breast(8;0.218) Lung NSC(34;0.0942)|all_lung(34;0.11) TTTACTACAGGAGTCCTTCTT 0.259 NA 7 659 0 0 0.001984 0 0 USP15 9958 broad.mit.edu 37 12 62783684 62783684 + Nonsense_Mutation SNP C C A TCGA-49-4501-01A-01D-1265-08 TCGA-49-4501-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0c53bb1b-5e6f-44a8-97a0-f89d43e0e789 3f0cb3e3-47ac-433e-af67-ae24596e7d6b g.chr12:62783684C>A uc001src.1 + 14 1769 c.1760C>A c.(1759-1761)TCA>TAA p.S587* USP15_uc001srb.1_Nonsense_Mutation_p.S558* NM_006313 NP_006304 Q9Y4E8 UBP15_HUMAN ubiquitin specific peptidase 15 587 protein deubiquitination|ubiquitin-dependent protein catabolic process cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity ovary(2)|lung(1) 3 GBM - Glioblastoma multiforme(1;0.000276) GBM - Glioblastoma multiforme(28;0.0622) ACTGGTTCTTCACTTTTTGGT 0.393 Melanoma(181;615 2041 39364 49691 50001) NA 7 71 3.86212e-05 4.3814e-05 0.008291 1 0 TPCN1 53373 broad.mit.edu 37 12 113729448 113729448 + Missense_Mutation SNP G G A TCGA-49-4501-01A-01D-1265-08 TCGA-49-4501-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0c53bb1b-5e6f-44a8-97a0-f89d43e0e789 3f0cb3e3-47ac-433e-af67-ae24596e7d6b g.chr12:113729448G>A uc001tuw.2 + 24 2291 c.1994G>A c.(1993-1995)CGC>CAC p.R665H TPCN1_uc001tux.2_Missense_Mutation_p.R737H|TPCN1_uc010syu.1_5'Flank NM_017901 NP_060371 Q9ULQ1 TPC1_HUMAN two pore segment channel 1 isoform 2 665 Extracellular (Potential). endosome membrane|integral to membrane|lysosomal membrane NAADP-sensitive calcium-release channel activity|voltage-gated ion channel activity skin(2)|ovary(1) 3 CACTGGAGCCGCCTCTACTTC 0.592 NA 4 20 0 0 0.009096 0 0 CIT 11113 broad.mit.edu 37 12 120128147 120128147 + Missense_Mutation SNP G G A TCGA-49-4501-01A-01D-1265-08 TCGA-49-4501-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0c53bb1b-5e6f-44a8-97a0-f89d43e0e789 3f0cb3e3-47ac-433e-af67-ae24596e7d6b g.chr12:120128147G>A uc001txi.1 - 46 5922 c.5869C>T c.(5869-5871)CAC>TAC p.H1957Y CIT_uc001txh.1_Missense_Mutation_p.H1475Y|CIT_uc001txj.1_Missense_Mutation_p.H1999Y NM_007174 NP_009105 O14578 CTRO_HUMAN citron 1957 SH3-binding (Potential). intracellular signal transduction ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity ovary(6)|urinary_tract(1)|lung(1)|breast(1)|skin(1) 10 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) Myeloproliferative disorder(1001;0.0255) BRCA - Breast invasive adenocarcinoma(302;0.211) CGGTAGCGGTGGGGTGTGCTT 0.726 NA 6 14 0 0 0.00308 0 0 NUPL1 9818 broad.mit.edu 37 13 25905666 25905666 + Missense_Mutation SNP A A G TCGA-49-4501-01A-01D-1265-08 TCGA-49-4501-11A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0c53bb1b-5e6f-44a8-97a0-f89d43e0e789 3f0cb3e3-47ac-433e-af67-ae24596e7d6b g.chr13:25905666A>G uc001uqi.2 + 13 1651 c.1405A>G c.(1405-1407)ACA>GCA p.T469A NUPL1_uc001uqg.1_Missense_Mutation_p.T469A|NUPL1_uc001uqj.2_Missense_Mutation_p.T457A NM_014089 NP_054808 Q9BVL2 NUPL1_HUMAN nucleoporin like 1 isoform a 469 14 X 2 AA repeats of F-G. carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction nuclear membrane|nuclear pore 0 Lung SC(185;0.0225)|Breast(139;0.0351) all cancers(112;0.0092)|Epithelial(112;0.0477)|OV - Ovarian serous cystadenocarcinoma(117;0.165)|GBM - Glioblastoma multiforme(144;0.244) CATGGCTGCAACACTTACACA 0.488 Pancreas(166;1040 2004 4560 4728 37041)|GBM(109;1045 1520 7614 9308 19618) NA 10 16 0 0 0.008871 0 0 KL 9365 broad.mit.edu 37 13 33629297 33629297 + Silent SNP C C T TCGA-49-4501-01A-01D-1265-08 TCGA-49-4501-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0c53bb1b-5e6f-44a8-97a0-f89d43e0e789 3f0cb3e3-47ac-433e-af67-ae24596e7d6b g.chr13:33629297C>T uc001uus.2 + 3 1452 c.1444C>T c.(1444-1446)CTA>TTA p.L482L KL_uc001uur.1_Silent_p.L175L NM_004795 NP_004786 Q9UEF7 KLOT_HUMAN klotho precursor 482 Glycosyl hydrolase-1 1.|Extracellular (Potential). aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization extracellular space|extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding large_intestine(1)|ovary(1)|skin(1) 3 all_epithelial(80;0.133) Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262) GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05) TGTTGACTTTCTAAGCCAGGA 0.483 NA 11 203 0 0 0.020292 0 0 SCEL 8796 broad.mit.edu 37 13 78176221 78176221 + Silent SNP G G A TCGA-49-4501-01A-01D-1265-08 TCGA-49-4501-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0c53bb1b-5e6f-44a8-97a0-f89d43e0e789 3f0cb3e3-47ac-433e-af67-ae24596e7d6b g.chr13:78176221G>A uc001vki.2 + 16 1109 c.939G>A c.(937-939)CCG>CCA p.P313P SCEL_uc001vkj.2_Silent_p.P293P|SCEL_uc010thx.1_Silent_p.P291P NM_144777 NP_659001 O95171 SCEL_HUMAN sciellin isoform 1 313 16 X approximate tandem repeats.|4. embryo development|keratinocyte differentiation cornified envelope|cytoplasm|membrane protein binding|zinc ion binding ovary(4)|breast(1) 5 Acute lymphoblastic leukemia(28;0.0282)|Breast(118;0.037) GBM - Glioblastoma multiforme(99;0.0233) TTGGAAGTCCGATTAAAGTTA 0.378 NA 9 59 0 0 0.008291 0 0 ABHD12B 145447 broad.mit.edu 37 14 51352529 51352529 + Missense_Mutation SNP C C T TCGA-49-4501-01A-01D-1265-08 TCGA-49-4501-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0c53bb1b-5e6f-44a8-97a0-f89d43e0e789 3f0cb3e3-47ac-433e-af67-ae24596e7d6b g.chr14:51352529C>T uc001wys.2 + 7 593 c.578C>T c.(577-579)ACG>ATG p.T193M ABHD12B_uc001wyq.2_Missense_Mutation_p.T86M|ABHD12B_uc001wyr.2_Missense_Mutation_p.T116M|ABHD12B_uc010any.2_Intron NM_181533 NP_853511 Q7Z5M8 AB12B_HUMAN abhydrolase domain containing 12B isoform b 193 hydrolase activity breast(1) 1 all_epithelial(31;0.00481)|Breast(41;0.148) GGACTGACTACGGATGCCATT 0.522 NA 6 264 0 0 0.001168 0 0 SPTB 6710 broad.mit.edu 37 14 65239968 65239968 + Silent SNP C C A TCGA-49-4501-01A-01D-1265-08 TCGA-49-4501-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0c53bb1b-5e6f-44a8-97a0-f89d43e0e789 3f0cb3e3-47ac-433e-af67-ae24596e7d6b g.chr14:65239968C>A uc001xht.2 - 24 5202 c.5148G>T c.(5146-5148)CCG>CCT p.P1716P SPTB_uc001xhr.2_Silent_p.P1716P|SPTB_uc001xhs.2_Silent_p.P1716P|SPTB_uc001xhu.2_Silent_p.P1716P|SPTB_uc010aqi.2_Silent_p.P377P NM_000347 NP_000338 P11277 SPTB1_HUMAN spectrin beta isoform b 1716 Spectrin 14. actin filament capping|axon guidance cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton actin filament binding|structural constituent of cytoskeleton ovary(7)|skin(2)|lung(1)|central_nervous_system(1) 11 all_lung(585;4.15e-09) all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628) GCCCCATTTCCGGGGAAGAGG 0.542 NA 6 65 2.0095e-06 2.31865e-06 0.001984 1 0 KIAA1409 57578 broad.mit.edu 37 14 94173127 94173127 + Silent SNP G G A TCGA-49-4501-01A-01D-1265-08 TCGA-49-4501-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0c53bb1b-5e6f-44a8-97a0-f89d43e0e789 3f0cb3e3-47ac-433e-af67-ae24596e7d6b g.chr14:94173127G>A uc001ybv.1 + 48 7403 c.7320G>A c.(7318-7320)CCG>CCA p.P2440P KIAA1409_uc001ybs.1_Silent_p.P2418P NM_020818 NP_065869 Q9P2D8 UNC79_HUMAN hypothetical protein LOC57578 2595 integral to membrane ovary(10)|skin(4)|large_intestine(3) 17 all_cancers(154;0.0354)|all_epithelial(191;0.216) Epithelial(152;0.188) GGACGCTGCCGGGCTCGGGCC 0.592 NA 8 84 0 0 0.006214 0 0 DYNC1H1 1778 broad.mit.edu 37 14 102493718 102493718 + Splice_Site SNP A A G TCGA-49-4501-01A-01D-1265-08 TCGA-49-4501-11A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0c53bb1b-5e6f-44a8-97a0-f89d43e0e789 3f0cb3e3-47ac-433e-af67-ae24596e7d6b g.chr14:102493718A>G uc001yks.2 + 46 9051 c.8887_splice c.e46-2 p.V2963_splice NM_001376 NP_001367 Q14204 DYHC1_HUMAN cytoplasmic dynein 1 heavy chain 1 cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding ovary(7)|central_nervous_system(2)|pancreas(1) 10 CTGCTTCTGTAGGTCCATAGG 0.453 NA 3 125 0 0 0.004672 0 0 CYFIP1 23191 broad.mit.edu 37 15 23002904 23002904 + Missense_Mutation SNP G G A rs140750865 TCGA-49-4501-01A-01D-1265-08 TCGA-49-4501-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0c53bb1b-5e6f-44a8-97a0-f89d43e0e789 3f0cb3e3-47ac-433e-af67-ae24596e7d6b g.chr15:23002904G>A uc001yus.2 + 31 3730 c.3626G>A c.(3625-3627)CGC>CAC p.R1209H CYFIP1_uc001yut.2_Missense_Mutation_p.R1209H|CYFIP1_uc001yuu.2_Missense_Mutation_p.R778H|CYFIP1_uc001yuv.2_Missense_Mutation_p.R403H NM_014608 NP_055423 Q7L576 CYFP1_HUMAN cytoplasmic FMR1 interacting protein 1 isoform 1209 axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome actin filament binding|Rac GTPase binding ovary(4)|pancreas(3)|liver(1)|skin(1) 9 all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488) all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101) GAGAGAATTCGCAAGTTCCAG 0.443 NA 4 164 0 0 0.014758 0 0 FBN1 2200 broad.mit.edu 37 15 48818423 48818423 + Missense_Mutation SNP T T C TCGA-49-4501-01A-01D-1265-08 TCGA-49-4501-11A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0c53bb1b-5e6f-44a8-97a0-f89d43e0e789 3f0cb3e3-47ac-433e-af67-ae24596e7d6b g.chr15:48818423T>C uc001zwx.1 - 9 1220 c.892A>G c.(892-894)ATC>GTC p.I298V NM_000138 NP_000129 P35555 FBN1_HUMAN fibrillin 1 precursor 298 EGF-like 5; calcium-binding. heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development basement membrane|extracellular space|microfibril calcium ion binding|extracellular matrix structural constituent|protein binding ovary(2)|large_intestine(1) 3 all_lung(180;0.00279) all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05) CCTTCACAGATTCCAGGAATG 0.403 NA 3 116 0 0 0.004672 0 0 DAPK2 23604 broad.mit.edu 37 15 64263636 64263636 + Missense_Mutation SNP G G A TCGA-49-4501-01A-01D-1265-08 TCGA-49-4501-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0c53bb1b-5e6f-44a8-97a0-f89d43e0e789 3f0cb3e3-47ac-433e-af67-ae24596e7d6b g.chr15:64263636G>A uc002amr.2 - 4 470 c.439C>T c.(439-441)CAC>TAC p.H147Y DAPK2_uc010uim.1_RNA|DAPK2_uc010bgu.1_Missense_Mutation_p.H137Y NM_014326 NP_055141 Q9UIK4 DAPK2_HUMAN death-associated kinase 2 147 Protein kinase. apoptosis|induction of apoptosis|intracellular protein kinase cascade cytoplasm ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|identical protein binding stomach(1)|central_nervous_system(1) 2 LUAD - Lung adenocarcinoma(2;0.215) AGATCAAAGTGAGCAATTTTC 0.493 NA 95 192 0 0 0.01441 0 0 APOB48R 55911 broad.mit.edu 37 16 28509145 28509145 + Missense_Mutation SNP G G A TCGA-49-4501-01A-01D-1265-08 TCGA-49-4501-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0c53bb1b-5e6f-44a8-97a0-f89d43e0e789 3f0cb3e3-47ac-433e-af67-ae24596e7d6b g.chr16:28509145G>A uc002dqb.1 + 3 2766 c.2756G>A c.(2755-2757)CGG>CAG p.R919Q uc010vct.1_Intron|APOB48R_uc010byg.1_Missense_Mutation_p.R457Q NM_018690 NP_061160 Q0VD83 APOBR_HUMAN apolipoprotein B48 receptor 919 Glu-rich. cholesterol metabolic process|lipid transport chylomicron|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle 0 ACCGGGGGCCGGAGGGCAGAG 0.647 NA 3 22 0 0 0.009096 0 0 MYH3 4621 broad.mit.edu 37 17 10538773 10538773 + Silent SNP C C T rs151186379 TCGA-49-4501-01A-01D-1265-08 TCGA-49-4501-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0c53bb1b-5e6f-44a8-97a0-f89d43e0e789 3f0cb3e3-47ac-433e-af67-ae24596e7d6b g.chr17:10538773C>T uc002gmq.1 - 29 4160 c.4083G>A c.(4081-4083)GCG>GCA p.A1361A NM_002470 NP_002461 P11055 MYH3_HUMAN myosin, heavy chain 3, skeletal muscle, 1361 Potential. muscle filament sliding|muscle organ development cytosol|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity ovary(4)|central_nervous_system(2)|pancreas(1) 7 CCTTGGACAGCGCCCTCTGCA 0.627 NA 14 217 0 0 0.020292 0 0 ZNF521 25925 broad.mit.edu 37 18 22806286 22806286 + Silent SNP A A G TCGA-49-4501-01A-01D-1265-08 TCGA-49-4501-11A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0c53bb1b-5e6f-44a8-97a0-f89d43e0e789 3f0cb3e3-47ac-433e-af67-ae24596e7d6b g.chr18:22806286A>G uc002kvk.2 - 4 1843 c.1596T>C c.(1594-1596)ATT>ATC p.I532I ZNF521_uc010xbe.1_RNA|ZNF521_uc010dly.2_Silent_p.I532I|ZNF521_uc002kvl.2_Silent_p.I312I NM_015461 NP_056276 Q96K83 ZN521_HUMAN zinc finger protein 521 532 C2H2-type 12. cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein domain specific binding|zinc ion binding ovary(4)|large_intestine(2)|lung(1) 7 all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991) GAACCTGTCTAATATGCTCTT 0.448 NA T PAX5 ALL 3 86 0 0 0.009096 0 0 CNDP1 84735 broad.mit.edu 37 18 72250879 72250879 + Silent SNP C C T TCGA-49-4501-01A-01D-1265-08 TCGA-49-4501-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0c53bb1b-5e6f-44a8-97a0-f89d43e0e789 3f0cb3e3-47ac-433e-af67-ae24596e7d6b g.chr18:72250879C>T uc002llq.2 + 11 1603 c.1392C>T c.(1390-1392)AGC>AGT p.S464S CNDP1_uc002lls.2_Silent_p.S267S NM_032649 NP_116038 Q96KN2 CNDP1_HUMAN carnosinase 1 precursor 464 proteolysis extracellular region carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity|tripeptidase activity 0 Esophageal squamous(42;0.129)|Prostate(75;0.157)|Melanoma(33;0.211) BRCA - Breast invasive adenocarcinoma(31;0.109) TCCACAAGAGCGTGGTGCTAA 0.478 Melanoma(32;1029 1042 25286 38395 44237) NA 6 128 0 0 0.001984 0 0 DPY19L3 147991 broad.mit.edu 37 19 32930060 32930060 + Silent SNP G G A TCGA-49-4501-01A-01D-1265-08 TCGA-49-4501-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0c53bb1b-5e6f-44a8-97a0-f89d43e0e789 3f0cb3e3-47ac-433e-af67-ae24596e7d6b g.chr19:32930060G>A uc002ntg.2 + 7 815 c.639G>A c.(637-639)GAG>GAA p.E213E DPY19L3_uc002nth.1_Silent_p.E213E|DPY19L3_uc002nti.1_RNA NM_207325 NP_997208 Q6ZPD9 D19L3_HUMAN dpy-19-like 3 213 integral to membrane ovary(4) 4 Esophageal squamous(110;0.162) CACTGAGGGAGAACTGGGCGC 0.373 NA 12 170 0 0 0.016723 0 0 DPY19L3 147991 broad.mit.edu 37 19 32930116 32930116 + Missense_Mutation SNP G G C TCGA-49-4501-01A-01D-1265-08 TCGA-49-4501-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0c53bb1b-5e6f-44a8-97a0-f89d43e0e789 3f0cb3e3-47ac-433e-af67-ae24596e7d6b g.chr19:32930116G>C uc002ntg.2 + 7 871 c.695G>C c.(694-696)AGA>ACA p.R232T DPY19L3_uc002nth.1_Missense_Mutation_p.R232T|DPY19L3_uc002nti.1_RNA NM_207325 NP_997208 Q6ZPD9 D19L3_HUMAN dpy-19-like 3 232 Helical; (Potential). integral to membrane ovary(4) 4 Esophageal squamous(110;0.162) TATTTCCTGAGACCAAACTTA 0.358 NA 9 142 0 0 0.010729 0 0 ZNF585A 199704 broad.mit.edu 37 19 37642866 37642866 + Silent SNP G G A TCGA-49-4501-01A-01D-1265-08 TCGA-49-4501-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0c53bb1b-5e6f-44a8-97a0-f89d43e0e789 3f0cb3e3-47ac-433e-af67-ae24596e7d6b g.chr19:37642866G>A uc002ofo.1 - 5 2166 c.1935C>T c.(1933-1935)GGC>GGT p.G645G ZNF585A_uc002ofm.1_Silent_p.G590G|ZNF585A_uc002ofn.1_Silent_p.G590G NM_199126 NP_954577 Q6P3V2 Z585A_HUMAN zinc finger protein 585A 645 C2H2-type 18. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding ovary(1)|central_nervous_system(1)|skin(1) 3 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) GATTTGACCTGCCACTAAAGG 0.488 NA 10 41 0 0 0.020292 0 0 SIPA1L3 23094 broad.mit.edu 37 19 38610025 38610025 + Missense_Mutation SNP G G A TCGA-49-4501-01A-01D-1265-08 TCGA-49-4501-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0c53bb1b-5e6f-44a8-97a0-f89d43e0e789 3f0cb3e3-47ac-433e-af67-ae24596e7d6b g.chr19:38610025G>A uc002ohk.2 + 9 2880 c.2371G>A c.(2371-2373)GTC>ATC p.V791I NM_015073 NP_055888 O60292 SI1L3_HUMAN signal-induced proliferation-associated 1 like 791 Rap-GAP. regulation of small GTPase mediated signal transduction intracellular GTPase activator activity ovary(1)|central_nervous_system(1) 2 Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292) CAAATCCGACGTCTTCAGAGA 0.567 NA 6 156 0 0 0.001168 0 0 RASGRP4 115727 broad.mit.edu 37 19 38903681 38903681 + Silent SNP G G A TCGA-49-4501-01A-01D-1265-08 TCGA-49-4501-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0c53bb1b-5e6f-44a8-97a0-f89d43e0e789 3f0cb3e3-47ac-433e-af67-ae24596e7d6b g.chr19:38903681G>A uc002oir.2 - 12 1639 c.1425C>T c.(1423-1425)TTC>TTT p.F475F RASGRP4_uc010efz.1_RNA|RASGRP4_uc010ega.1_RNA|RASGRP4_uc010xua.1_Silent_p.F406F|RASGRP4_uc010xub.1_Silent_p.F441F|RASGRP4_uc010xuc.1_Silent_p.F383F|RASGRP4_uc010xud.1_Silent_p.F378F|RASGRP4_uc010xue.1_Silent_p.F286F|RASGRP4_uc010egb.2_Silent_p.F461F NM_170604 NP_733749 Q8TDF6 GRP4_HUMAN RAS guanyl releasing protein 4 isoform a 475 EF-hand. activation of phospholipase C activity|cell growth|cell proliferation|myeloid cell differentiation|positive regulation of Ras protein signal transduction|regulation of G-protein coupled receptor protein signaling pathway|response to extracellular stimulus|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway cytoplasm|membrane fraction|plasma membrane|soluble fraction diacylglycerol binding|GTP-dependent protein binding|metal ion binding|Ras guanyl-nucleotide exchange factor activity pancreas(1)|lung(1)|skin(1) 3 all_cancers(60;4.21e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) CATAATTCTTGAACACAGACT 0.542 NA 8 106 0 0 0.006214 0 0 CYP2F1 1572 broad.mit.edu 37 19 41627459 41627459 + Missense_Mutation SNP G G A TCGA-49-4501-01A-01D-1265-08 TCGA-49-4501-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0c53bb1b-5e6f-44a8-97a0-f89d43e0e789 3f0cb3e3-47ac-433e-af67-ae24596e7d6b g.chr19:41627459G>A uc002opu.1 + 5 637 c.581G>A c.(580-582)CGT>CAT p.R194H CYP2F1_uc010xvw.1_Intron|CYP2F1_uc010xvv.1_Missense_Mutation_p.R194H|CYP2F1_uc002opv.1_RNA NM_000774 NP_000765 P24903 CP2F1_HUMAN cytochrome P450, family 2, subfamily F, 194 naphthalene metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding 0 GATGATGAGCGTCTGCTCACC 0.562 NA 19 149 0 0 0.007291 0 0 CEACAM4 1089 broad.mit.edu 37 19 42132119 42132119 + Missense_Mutation SNP C C T TCGA-49-4501-01A-01D-1265-08 TCGA-49-4501-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0c53bb1b-5e6f-44a8-97a0-f89d43e0e789 3f0cb3e3-47ac-433e-af67-ae24596e7d6b g.chr19:42132119C>T uc002orh.1 - 2 391 c.280G>A c.(280-282)GCA>ACA p.A94T CEACAM4_uc010xwd.1_Missense_Mutation_p.A94T NM_001817 NP_001808 O75871 CEAM4_HUMAN carcinoembryonic antigen-related cell adhesion 94 Extracellular (Potential).|Ig-like V-type. integral to plasma membrane|membrane fraction 0 CCACTGTATGCGGCCCCTGGG 0.488 NA 5 263 0 0 0.001168 0 0 PPP2R1A 5518 broad.mit.edu 37 19 52716329 52716329 + Missense_Mutation SNP G G A TCGA-49-4501-01A-01D-1265-08 TCGA-49-4501-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0c53bb1b-5e6f-44a8-97a0-f89d43e0e789 3f0cb3e3-47ac-433e-af67-ae24596e7d6b g.chr19:52716329G>A uc002pyp.2 + 6 932 c.773G>A c.(772-774)CGC>CAC p.R258H PPP2R1A_uc010ydk.1_Missense_Mutation_p.R203H|PPP2R1A_uc010epm.1_Missense_Mutation_p.R298H|PPP2R1A_uc002pyq.2_Missense_Mutation_p.R79H NM_014225 NP_055040 P30153 2AAA_HUMAN alpha isoform of regulatory subunit A, protein 258 HEAT 7.|PP2A subunit B binding.|Polyoma small and medium T antigens Binding. R -> A (in Ref. 2; AAA36399). ceramide metabolic process|chromosome segregation|G2/M transition of mitotic cell cycle|inactivation of MAPK activity|induction of apoptosis|negative regulation of cell growth|negative regulation of tyrosine phosphorylation of Stat3 protein|protein complex assembly|protein dephosphorylation|regulation of cell adhesion|regulation of cell differentiation|regulation of DNA replication|regulation of transcription, DNA-dependent|regulation of Wnt receptor signaling pathway|response to organic substance|RNA splicing|second-messenger-mediated signaling chromosome, centromeric region|cytosol|membrane|microtubule cytoskeleton|mitochondrion|nucleus|protein phosphatase type 2A complex|soluble fraction antigen binding|protein heterodimerization activity|protein phosphatase type 2A regulator activity p.R258C(1) endometrium(31)|ovary(28)|lung(2)|breast(2)|skin(1)|kidney(1)|pancreas(1) 66 GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015) AAGTCCTGGCGCGTCCGCTAC 0.602 NA Mis clear cell ovarian carcinoma 5 39 0 0 0.001984 0 0 ZNF534 147658 broad.mit.edu 37 19 52942354 52942354 + Silent SNP A A G TCGA-49-4501-01A-01D-1265-08 TCGA-49-4501-11A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0c53bb1b-5e6f-44a8-97a0-f89d43e0e789 3f0cb3e3-47ac-433e-af67-ae24596e7d6b g.chr19:52942354A>G uc002pzk.2 + 4 1741 c.1680A>G c.(1678-1680)GAA>GAG p.E560E ZNF534_uc002pzj.1_Intron|ZNF534_uc010epo.1_Intron|ZNF534_uc002pzl.2_Silent_p.E547E NM_001143939 NP_001137411 Q76KX8 ZN534_HUMAN zinc finger protein 534 isoform 2 560 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 ATACTGGAGAAAAGCCTTACA 0.433 NA 3 19 0 0 0.009096 0 0 MXD1 4084 broad.mit.edu 37 2 70164438 70164438 + Silent SNP G G A TCGA-49-4501-01A-01D-1265-08 TCGA-49-4501-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0c53bb1b-5e6f-44a8-97a0-f89d43e0e789 3f0cb3e3-47ac-433e-af67-ae24596e7d6b g.chr2:70164438G>A uc002sfy.2 + 5 650 c.390G>A c.(388-390)AAG>AAA p.K130K MXD1_uc010yqp.1_Silent_p.K130K|MXD1_uc010yqq.1_Silent_p.K67K|MXD1_uc010yqr.1_RNA|MXD1_uc010yqs.1_Silent_p.K120K NM_002357 NP_002348 Q05195 MAD1_HUMAN MAX dimerization protein 1 130 cell proliferation|multicellular organismal development mitochondrion|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity 0 GACACCTGAAGAGGCAGCTGG 0.572 NA 25 112 0 0 0.009535 0 0 DCTN1 1639 broad.mit.edu 37 2 74594501 74594501 + Missense_Mutation SNP A A G TCGA-49-4501-01A-01D-1265-08 TCGA-49-4501-11A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0c53bb1b-5e6f-44a8-97a0-f89d43e0e789 3f0cb3e3-47ac-433e-af67-ae24596e7d6b g.chr2:74594501A>G uc002skx.2 - 19 2542 c.2231T>C c.(2230-2232)ATG>ACG p.M744T DCTN1_uc002skt.1_5'Flank|DCTN1_uc002skv.2_Missense_Mutation_p.M610T|DCTN1_uc002sku.2_Missense_Mutation_p.M610T|DCTN1_uc002skw.1_Missense_Mutation_p.M720T|DCTN1_uc010ffd.2_Missense_Mutation_p.M724T|DCTN1_uc002sky.2_Missense_Mutation_p.M707T NM_004082 NP_004073 Q14203 DCTN1_HUMAN dynactin 1 isoform 1 744 cell death|G2/M transition of mitotic cell cycle|mitosis|nervous system development centrosome|cytosol|kinetochore|microtubule|spindle pole motor activity|protein binding ovary(3)|skin(2) 5 AGCCAGCTGCATAGTACAGTC 0.537 NA 9 62 0 0 0.006214 0 0 ZSWIM2 151112 broad.mit.edu 37 2 187702037 187702037 + Missense_Mutation SNP A A G TCGA-49-4501-01A-01D-1265-08 TCGA-49-4501-11A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0c53bb1b-5e6f-44a8-97a0-f89d43e0e789 3f0cb3e3-47ac-433e-af67-ae24596e7d6b g.chr2:187702037A>G uc002upu.1 - 5 779 c.739T>C c.(739-741)TAT>CAT p.Y247H NM_182521 NP_872327 Q8NEG5 ZSWM2_HUMAN zinc finger, SWIM domain containing 2 247 ZZ-type. apoptosis zinc ion binding ovary(2)|skin(1) 3 OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164) ACTTACTTATAACACTTCCCC 0.388 NA 8 110 0 0 0.004482 0 0 TMEM169 92691 broad.mit.edu 37 2 216964796 216964796 + Missense_Mutation SNP C C T TCGA-49-4501-01A-01D-1265-08 TCGA-49-4501-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0c53bb1b-5e6f-44a8-97a0-f89d43e0e789 3f0cb3e3-47ac-433e-af67-ae24596e7d6b g.chr2:216964796C>T uc010zjr.1 + 4 751 c.425C>T c.(424-426)ACG>ATG p.T142M TMEM169_uc010zjs.1_Missense_Mutation_p.T142M|TMEM169_uc002vfw.2_Missense_Mutation_p.T142M|TMEM169_uc002vfv.3_Missense_Mutation_p.T142M NM_001142310 NP_001135782 Q96HH4 TM169_HUMAN transmembrane protein 169 142 Extracellular (Potential). integral to membrane ovary(1) 1 Renal(323;0.0651) Epithelial(149;6.44e-06)|all cancers(144;0.000398)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) TCAAGGGAAACGACGCCTGAA 0.527 NA 18 102 0 0 0.008871 0 0 VIL1 7429 broad.mit.edu 37 2 219301981 219301981 + Silent SNP C C T rs141506332 byFrequency TCGA-49-4501-01A-01D-1265-08 TCGA-49-4501-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0c53bb1b-5e6f-44a8-97a0-f89d43e0e789 3f0cb3e3-47ac-433e-af67-ae24596e7d6b g.chr2:219301981C>T uc002via.2 + 17 2171 c.2106C>T c.(2104-2106)CAC>CAT p.H702H VIL1_uc010zke.1_Silent_p.H391H|VIL1_uc002vib.2_Silent_p.H702H NM_007127 NP_009058 P09327 VILI_HUMAN villin 1 702 Core. actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity ovary(1) 1 Renal(207;0.0474) Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) AGCAGGGACACGAGCCCCCCA 0.602 NA 4 88 0 0 0.009096 0 0 AGAP1 116987 broad.mit.edu 37 2 236659077 236659077 + Silent SNP G G A rs139143512 byFrequency TCGA-49-4501-01A-01D-1265-08 TCGA-49-4501-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0c53bb1b-5e6f-44a8-97a0-f89d43e0e789 3f0cb3e3-47ac-433e-af67-ae24596e7d6b g.chr2:236659077G>A uc002vvs.2 + 6 1213 c.618G>A c.(616-618)ACG>ACA p.T206T AGAP1_uc002vvt.2_Silent_p.T206T NM_001037131 NP_001032208 Q9UPQ3 AGAP1_HUMAN centaurin, gamma 2 isoform 1 206 Small GTPase-like. protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction cytoplasm ARF GTPase activator activity|GTP binding|zinc ion binding ovary(2)|skin(1) 3 AACGGTGCACGTACTACGAGA 0.522 NA 5 179 0 0 0.014758 0 0 SEMG1 6406 broad.mit.edu 37 20 43836817 43836817 + Silent SNP A A G rs17850164 TCGA-49-4501-01A-01D-1265-08 TCGA-49-4501-11A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0c53bb1b-5e6f-44a8-97a0-f89d43e0e789 3f0cb3e3-47ac-433e-af67-ae24596e7d6b g.chr20:43836817A>G uc002xni.2 + 2 936 c.879A>G c.(877-879)ACA>ACG p.T293T SEMG1_uc002xnj.2_Intron|SEMG2_uc010ggz.2_Intron|SEMG1_uc002xnh.2_Silent_p.T293T NM_003007 NP_002998 P04279 SEMG1_HUMAN semenogelin I preproprotein 293 58 AA repeat 1. insemination|sexual reproduction extracellular space|stored secretory granule structural molecule activity skin(2) 2 Myeloproliferative disorder(115;0.0122) CTTCAAGTACAGAAGAAAGAC 0.383 NA 5 148 0 0 0.014758 0 0 BRWD1 54014 broad.mit.edu 37 21 40569284 40569284 + Missense_Mutation SNP G G C TCGA-49-4501-01A-01D-1265-08 TCGA-49-4501-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0c53bb1b-5e6f-44a8-97a0-f89d43e0e789 3f0cb3e3-47ac-433e-af67-ae24596e7d6b g.chr21:40569284G>C uc002yxk.1 - 41 5850 c.5711C>G c.(5710-5712)TCC>TGC p.S1904C BRWD1_uc010goc.1_Missense_Mutation_p.S547C|BRWD1_uc002yxl.2_Missense_Mutation_p.S1904C NM_018963 NP_061836 Q9NSI6 BRWD1_HUMAN bromodomain and WD repeat domain containing 1 1904 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus skin(3)|ovary(1) 4 Prostate(19;8.44e-08)|all_epithelial(19;0.223) TGAGTCACTGGAACAGACCCT 0.398 Melanoma(170;988 1986 4794 16843 39731) NA 4 254 0 0 0.009096 0 0 KRTAP10-5 386680 broad.mit.edu 37 21 46000423 46000423 + Silent SNP G G A rs139901000 by1000genomes TCGA-49-4501-01A-01D-1265-08 TCGA-49-4501-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0c53bb1b-5e6f-44a8-97a0-f89d43e0e789 3f0cb3e3-47ac-433e-af67-ae24596e7d6b g.chr21:46000423G>A uc002zfl.1 - 1 59 c.33C>T c.(31-33)AGC>AGT p.S11S C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron NM_198694 NP_941967 P60370 KR105_HUMAN keratin associated protein 10-5 11 keratin filament 0 CAGAGCAAGCGCTGGAGCAGA 0.592 NA 12 115 0 0 0.016723 0 0 DNAJB7 150353 broad.mit.edu 37 22 41257635 41257635 + Missense_Mutation SNP G G A TCGA-49-4501-01A-01D-1265-08 TCGA-49-4501-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0c53bb1b-5e6f-44a8-97a0-f89d43e0e789 3f0cb3e3-47ac-433e-af67-ae24596e7d6b g.chr22:41257635G>A uc003azj.2 - 1 496 c.364C>T c.(364-366)CGT>TGT p.R122C XPNPEP3_uc011aox.1_Intron|XPNPEP3_uc003azh.2_Intron|XPNPEP3_uc003azi.2_Intron|XPNPEP3_uc011aoy.1_5'Flank|XPNPEP3_uc003azg.1_RNA|XPNPEP3_uc003azf.1_RNA|XPNPEP3_uc010gyh.1_5'Flank NM_145174 NP_660157 Q7Z6W7 DNJB7_HUMAN DnaJ (Hsp40) homolog, subfamily B, member 7 122 protein folding heat shock protein binding|unfolded protein binding ovary(1) 1 CTTCCTGGACGATTTAACAGG 0.363 NA 5 158 0 0 0.001168 0 0 NAGA 4668 broad.mit.edu 37 22 42456372 42456372 + Missense_Mutation SNP C C G TCGA-49-4501-01A-01D-1265-08 TCGA-49-4501-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0c53bb1b-5e6f-44a8-97a0-f89d43e0e789 3f0cb3e3-47ac-433e-af67-ae24596e7d6b g.chr22:42456372C>G uc003bbx.2 - 10 1284 c.1147G>C c.(1147-1149)GAA>CAA p.E383Q NAGA_uc003bby.2_Missense_Mutation_p.E383Q|NAGA_uc003bbw.3_Missense_Mutation_p.E383Q NM_000262 NP_000253 P17050 NAGAB_HUMAN alpha-N-acetylgalactosaminidase precursor 383 glycoside catabolic process|glycosylceramide catabolic process|oligosaccharide metabolic process lysosome alpha-galactosidase activity|alpha-N-acetylgalactosaminidase activity|cation binding|protein homodimerization activity central_nervous_system(1) 1 AAGTTGGTTTCATCTCGGAGG 0.557 NA 4 156 0 0 0.009096 0 0 SLC4A7 9497 broad.mit.edu 37 3 27472895 27472895 + Silent SNP G G A TCGA-49-4501-01A-01D-1265-08 TCGA-49-4501-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0c53bb1b-5e6f-44a8-97a0-f89d43e0e789 3f0cb3e3-47ac-433e-af67-ae24596e7d6b g.chr3:27472895G>A uc003cdv.2 - 7 1088 c.1017C>T c.(1015-1017)GCC>GCT p.A339A SLC4A7_uc011awu.1_RNA|SLC4A7_uc011awv.1_Intron|SLC4A7_uc003cdu.3_Intron|SLC4A7_uc011aww.1_Silent_p.A348A|SLC4A7_uc011awx.1_Silent_p.A335A|SLC4A7_uc011awy.1_Silent_p.A331A|SLC4A7_uc011awz.1_Intron|SLC4A7_uc011axa.1_Intron|SLC4A7_uc011axb.1_Silent_p.A335A|SLC4A7_uc010hfm.2_Intron|SLC4A7_uc003cdw.2_Intron NM_003615 NP_003606 Q9Y6M7 S4A7_HUMAN solute carrier family 4, sodium bicarbonate 339 Extracellular (Potential). apical plasma membrane|basolateral plasma membrane|integral to membrane|stereocilium inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity ovary(3)|central_nervous_system(1)|skin(1) 5 TATCATCACTGGCAGGTGAAA 0.502 NA 28 157 0 0 0.009535 0 0 MON1A 84315 broad.mit.edu 37 3 49947622 49947622 + Missense_Mutation SNP C C T TCGA-49-4501-01A-01D-1265-08 TCGA-49-4501-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0c53bb1b-5e6f-44a8-97a0-f89d43e0e789 3f0cb3e3-47ac-433e-af67-ae24596e7d6b g.chr3:49947622C>T uc003cxz.2 - 4 1726 c.1600G>A c.(1600-1602)GTT>ATT p.V534I MON1A_uc003cya.2_Missense_Mutation_p.V372I|MON1A_uc003cyb.2_Missense_Mutation_p.V372I NM_032355 NP_115731 Q86VX9 MON1A_HUMAN MON1 homolog A isoform a 437 protein binding ovary(2) 2 BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621) ACTTGGGCAACGCTGTAGTAG 0.627 NA 4 99 0 0 0.009096 0 0 DNAH1 25981 broad.mit.edu 37 3 52429597 52429597 + Missense_Mutation SNP T T C TCGA-49-4501-01A-01D-1265-08 TCGA-49-4501-11A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0c53bb1b-5e6f-44a8-97a0-f89d43e0e789 3f0cb3e3-47ac-433e-af67-ae24596e7d6b g.chr3:52429597T>C uc011bef.1 + 70 11423 c.11162T>C c.(11161-11163)ATA>ACA p.I3721T DNAH1_uc003ddv.2_Missense_Mutation_p.I579T NM_015512 NP_056327 Q9P2D7 DYH1_HUMAN dynein, axonemal, heavy chain 1 3786 AAA 6 (By similarity). ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity large_intestine(3) 3 BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) CGCAGCTCCATAGAGAGGGGC 0.637 NA 12 49 0 0 0.008871 0 0 ADAMTS9 56999 broad.mit.edu 37 3 64582594 64582594 + Missense_Mutation SNP T T C TCGA-49-4501-01A-01D-1265-08 TCGA-49-4501-11A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0c53bb1b-5e6f-44a8-97a0-f89d43e0e789 3f0cb3e3-47ac-433e-af67-ae24596e7d6b g.chr3:64582594T>C uc003dmg.2 - 27 4123 c.4091A>G c.(4090-4092)AAC>AGC p.N1364S ADAMTS9_uc011bfo.1_Missense_Mutation_p.N1336S|ADAMTS9_uc003dmh.1_Missense_Mutation_p.N1193S|ADAMTS9_uc011bfp.1_Missense_Mutation_p.N275S NM_182920 NP_891550 Q9P2N4 ATS9_HUMAN ADAM metallopeptidase with thrombospondin type 1 1364 TSP type-1 9. glycoprotein catabolic process|multicellular organismal development|proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(2)|urinary_tract(1)|skin(1) 4 Lung NSC(201;0.00682) BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221) CACACAGTCGTTTGCGGTGTA 0.502 NA 9 79 0 0 0.008291 0 0 SEMA5B 54437 broad.mit.edu 37 3 122642572 122642572 + Silent SNP G G A TCGA-49-4501-01A-01D-1265-08 TCGA-49-4501-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0c53bb1b-5e6f-44a8-97a0-f89d43e0e789 3f0cb3e3-47ac-433e-af67-ae24596e7d6b g.chr3:122642572G>A uc003efz.1 - 10 1468 c.1164C>T c.(1162-1164)TGC>TGT p.C388C SEMA5B_uc011bju.1_Silent_p.C330C|SEMA5B_uc003ega.1_RNA|SEMA5B_uc003egb.1_Silent_p.C388C|SEMA5B_uc010hro.1_Silent_p.C330C|SEMA5B_uc010hrp.1_RNA NM_001031702 NP_001026872 Q9P283 SEM5B_HUMAN semaphorin 5B isoform 1 388 Extracellular (Potential).|Sema. cell differentiation|nervous system development integral to membrane receptor activity ovary(2)|breast(2)|pancreas(2)|central_nervous_system(1) 7 GBM - Glioblastoma multiforme(114;0.0367) GGTTGAAGGCGCAGACAGCAG 0.592 NA 39 113 0 0 0.009718 0 0 NEK11 79858 broad.mit.edu 37 3 130884337 130884337 + Nonsense_Mutation SNP C C T TCGA-49-4501-01A-01D-1265-08 TCGA-49-4501-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0c53bb1b-5e6f-44a8-97a0-f89d43e0e789 3f0cb3e3-47ac-433e-af67-ae24596e7d6b g.chr3:130884337C>T uc003eny.2 + 12 1476 c.1150C>T c.(1150-1152)CAG>TAG p.Q384* NEK11_uc003enx.2_Nonsense_Mutation_p.Q384*|NEK11_uc003eoa.2_Nonsense_Mutation_p.Q384*|NEK11_uc003enz.2_Nonsense_Mutation_p.Q202*|NEK11_uc010htn.2_RNA|NEK11_uc011blk.1_Nonsense_Mutation_p.Q236*|NEK11_uc011bll.1_Nonsense_Mutation_p.Q279*|NEK11_uc011blm.1_Nonsense_Mutation_p.Q384* NM_024800 NP_079076 Q8NG66 NEK11_HUMAN NIMA-related kinase 11 isoform 1 384 Potential. cell cycle|intra-S DNA damage checkpoint|intracellular protein kinase cascade nucleolus ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity large_intestine(4)|stomach(1)|central_nervous_system(1) 6 TCGGAACTTTCAGCAGCTGAG 0.308 NA 4 55 0 0 0.014758 0 0 CENPE 1062 broad.mit.edu 37 4 104041347 104041347 + Missense_Mutation SNP A A T TCGA-49-4501-01A-01D-1265-08 TCGA-49-4501-11A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0c53bb1b-5e6f-44a8-97a0-f89d43e0e789 3f0cb3e3-47ac-433e-af67-ae24596e7d6b g.chr4:104041347A>T uc003hxb.1 - 44 7377 c.7287T>A c.(7285-7287)AAT>AAA p.N2429K CENPE_uc003hxc.1_Missense_Mutation_p.N2308K NM_001813 NP_001804 Q02224 CENPE_HUMAN centromere protein E 2429 Kinetochore-binding domain.|Potential. blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle ATP binding|kinetochore binding|microtubule motor activity ovary(5)|breast(4) 9 OV - Ovarian serous cystadenocarcinoma(123;2.95e-08) CAAGGCATTTATTTGATTCAT 0.269 NA 8 32 0 0 0.00308 0 0 CYP4V2 285440 broad.mit.edu 37 4 187131662 187131662 + Missense_Mutation SNP C C T rs146494374 TCGA-49-4501-01A-01D-1265-08 TCGA-49-4501-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0c53bb1b-5e6f-44a8-97a0-f89d43e0e789 3f0cb3e3-47ac-433e-af67-ae24596e7d6b g.chr4:187131662C>T uc003iyw.3 + 11 1749 c.1445C>T c.(1444-1446)TCG>TTG p.S482L CYP4V2_uc010ism.2_RNA NM_207352 NP_997235 Q6ZWL3 CP4V2_HUMAN cytochrome P450, family 4, subfamily v, 482 response to stimulus|visual perception 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 0 all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243) OV - Ovarian serous cystadenocarcinoma(60;1.33e-10)|BRCA - Breast invasive adenocarcinoma(30;3.84e-05)|GBM - Glioblastoma multiforme(59;0.000132)|STAD - Stomach adenocarcinoma(60;0.000293)|LUSC - Lung squamous cell carcinoma(40;0.00242)|READ - Rectum adenocarcinoma(43;0.17) ACCATTCTTTCGTGCATCCTG 0.393 NA 20 115 0 0 0.014323 0 0 PCDHA1 56147 broad.mit.edu 37 5 140167367 140167367 + Missense_Mutation SNP C C T TCGA-49-4501-01A-01D-1265-08 TCGA-49-4501-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0c53bb1b-5e6f-44a8-97a0-f89d43e0e789 3f0cb3e3-47ac-433e-af67-ae24596e7d6b g.chr5:140167367C>T uc003lhb.2 + 1 1492 c.1492C>T c.(1492-1494)CGG>TGG p.R498W PCDHA1_uc003lha.2_Missense_Mutation_p.R498W|PCDHA1_uc003lgz.2_Missense_Mutation_p.R498W NM_018900 NP_061723 Q9Y5I3 PCDA1_HUMAN protocadherin alpha 1 isoform 1 precursor 498 Cadherin 5.|Extracellular (Potential). homophilic cell adhesion|nervous system development extracellular region|integral to plasma membrane calcium ion binding|protein binding skin(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGTGGAACGGCGGGTGGGCGA 0.672 NA 14 132 0 0 0.008871 0 0 PCDHA10 56139 broad.mit.edu 37 5 140236799 140236799 + Missense_Mutation SNP C C T TCGA-49-4501-01A-01D-1265-08 TCGA-49-4501-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0c53bb1b-5e6f-44a8-97a0-f89d43e0e789 3f0cb3e3-47ac-433e-af67-ae24596e7d6b g.chr5:140236799C>T uc003lhx.2 + 1 1166 c.1166C>T c.(1165-1167)ACG>ATG p.T389M PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Missense_Mutation_p.T389M|PCDHA10_uc011dad.1_Missense_Mutation_p.T389M NM_018901 NP_061724 Q9Y5I2 PCDAA_HUMAN protocadherin alpha 10 isoform 1 precursor 389 Cadherin 4.|Extracellular (Potential). homophilic cell adhesion|nervous system development extracellular region|integral to plasma membrane calcium ion binding|protein binding ovary(2)|skin(2)|breast(1) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGCTCTCTGACGCCTCACGTT 0.552 NA 11 230 0 0 0.010729 0 0 JAKMIP2 9832 broad.mit.edu 37 5 146991890 146991890 + Silent SNP T T C TCGA-49-4501-01A-01D-1265-08 TCGA-49-4501-11A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0c53bb1b-5e6f-44a8-97a0-f89d43e0e789 3f0cb3e3-47ac-433e-af67-ae24596e7d6b g.chr5:146991890T>C uc003loq.1 - 20 2773 c.2391A>G c.(2389-2391)CAA>CAG p.Q797Q JAKMIP2_uc011dbx.1_Silent_p.Q755Q|JAKMIP2_uc003lor.1_Silent_p.Q776Q|uc003lop.1_Intron|JAKMIP2_uc010jgo.1_Silent_p.Q797Q NM_014790 NP_055605 Q96AA8 JKIP2_HUMAN janus kinase and microtubule interacting protein 797 Potential. Golgi apparatus large_intestine(1)|ovary(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGTCTTTTATTTGTCTTTTCT 0.308 NA 3 18 0 0 0.004672 0 0 FAM71B 153745 broad.mit.edu 37 5 156592963 156592963 + Missense_Mutation SNP C C A TCGA-49-4501-01A-01D-1265-08 TCGA-49-4501-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0c53bb1b-5e6f-44a8-97a0-f89d43e0e789 3f0cb3e3-47ac-433e-af67-ae24596e7d6b g.chr5:156592963C>A uc003lwn.2 - 1 317 c.217G>T c.(217-219)GGC>TGC p.G73C NM_130899 NP_570969 Q8TC56 FA71B_HUMAN family with sequence similarity 71, member B 73 nucleus ovary(4)|pancreas(1)|skin(1) 6 Renal(175;0.00212) Medulloblastoma(196;0.0523)|all_neural(177;0.21) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) CAGACGATGCCCACTGTCACC 0.483 NA 12 125 0.00136819 0.00150168 0.013537 1 0 CAPN11 11131 broad.mit.edu 37 6 44144683 44144683 + Silent SNP C C T TCGA-49-4501-01A-01D-1265-08 TCGA-49-4501-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0c53bb1b-5e6f-44a8-97a0-f89d43e0e789 3f0cb3e3-47ac-433e-af67-ae24596e7d6b g.chr6:44144683C>T uc003owt.1 + 11 1223 c.1185C>T c.(1183-1185)TAC>TAT p.Y395Y CAPN11_uc011dvn.1_Silent_p.Y49Y NM_007058 NP_008989 Q9UMQ6 CAN11_HUMAN calpain 11 395 Domain III. proteolysis acrosomal vesicle calcium ion binding|calcium-dependent cysteine-type endopeptidase activity ovary(1)|breast(1) 2 all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) CCACCTTCTACGAGGGCAGCT 0.607 NA 23 185 0 0 0.01892 0 0 THEMIS 387357 broad.mit.edu 37 6 128134845 128134845 + Missense_Mutation SNP T T C TCGA-49-4501-01A-01D-1265-08 TCGA-49-4501-11A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0c53bb1b-5e6f-44a8-97a0-f89d43e0e789 3f0cb3e3-47ac-433e-af67-ae24596e7d6b g.chr6:128134845T>C uc003qbi.2 - 5 1260 c.941A>G c.(940-942)CAG>CGG p.Q314R THEMIS_uc010kfa.2_Missense_Mutation_p.Q217R|THEMIS_uc011ebt.1_Missense_Mutation_p.Q314R|THEMIS_uc010kfb.2_Missense_Mutation_p.Q279R NM_001010923 NP_001010923 Q8N1K5 THMS1_HUMAN thymocyte selection pathway associated isoform 314 CABIT 2. negative T cell selection|positive T cell selection|T cell receptor signaling pathway cytoplasm|nucleus ovary(2)|skin(2) 4 TCTTGATGCCTGGTACTTTTT 0.443 NA 4 170 0 0 0.009096 0 0 ENPP1 5167 broad.mit.edu 37 6 132203597 132203597 + Missense_Mutation SNP G G A TCGA-49-4501-01A-01D-1265-08 TCGA-49-4501-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0c53bb1b-5e6f-44a8-97a0-f89d43e0e789 3f0cb3e3-47ac-433e-af67-ae24596e7d6b g.chr6:132203597G>A uc011ecf.1 + 21 2233 c.2213G>A c.(2212-2214)GGG>GAG p.G738E NM_006208 NP_006199 P22413 ENPP1_HUMAN ectonucleotide pyrophosphatase/phosphodiesterase 738 Nuclease.|Extracellular (Potential). 3'-phosphoadenosine 5'-phosphosulfate metabolic process|biomineral tissue development|cellular phosphate ion homeostasis|cellular response to insulin stimulus|generation of precursor metabolites and energy|immune response|inorganic diphosphate transport|negative regulation of cell growth|negative regulation of fat cell differentiation|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of protein autophosphorylation|nucleoside triphosphate catabolic process|phosphate metabolic process|sequestering of triglyceride|water-soluble vitamin metabolic process basolateral plasma membrane|cell surface|extracellular space|integral to membrane ATP binding|insulin receptor binding|metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|protein homodimerization activity|scavenger receptor activity upper_aerodigestive_tract(2)|ovary(2) 4 Breast(56;0.0505) GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022) Amifostine(DB01143)|Ribavirin(DB00811) GTGAGTTACGGGTTCCTCTCC 0.383 Colon(104;336 1535 5856 11019 33782) NA 44 158 0 0 0.01441 0 0 AKAP12 9590 broad.mit.edu 37 6 151672021 151672021 + Missense_Mutation SNP G G C TCGA-49-4501-01A-01D-1265-08 TCGA-49-4501-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0c53bb1b-5e6f-44a8-97a0-f89d43e0e789 3f0cb3e3-47ac-433e-af67-ae24596e7d6b g.chr6:151672021G>C uc011eep.1 + 4 2735 c.2495G>C c.(2494-2496)GGG>GCG p.G832A AKAP12_uc003qoe.2_Missense_Mutation_p.G832A|AKAP12_uc003qof.2_Missense_Mutation_p.G734A|AKAP12_uc010kim.2_Intron|AKAP12_uc003qog.2_Missense_Mutation_p.G727A NM_005100 NP_005091 Q02952 AKA12_HUMAN A kinase (PRKA) anchor protein 12 isoform 1 832 G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting cell cortex|cytoskeleton|plasma membrane adenylate cyclase binding|protein kinase A binding large_intestine(2)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)|skin(1)|pancreas(1) 8 Ovarian(120;0.125) BRCA - Breast invasive adenocarcinoma(37;0.175) OV - Ovarian serous cystadenocarcinoma(155;2.98e-11) GAAGACGCAGGGCCAACAGGG 0.512 Melanoma(141;1616 1805 10049 24534 51979) NA 57 220 0 0 0.01441 0 0 PARK2 5071 broad.mit.edu 37 6 161781119 161781119 + Splice_Site SNP C C A TCGA-49-4501-01A-01D-1265-08 TCGA-49-4501-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0c53bb1b-5e6f-44a8-97a0-f89d43e0e789 3f0cb3e3-47ac-433e-af67-ae24596e7d6b g.chr6:161781119C>A uc003qtx.3 - 11 1419 c.1285_splice c.e11+1 p.G429_splice PARK2_uc003qtv.3_Intron|PARK2_uc010kkd.2_Splice_Site_p.G238_splice|PARK2_uc003qtw.3_Intron|PARK2_uc003qty.3_Splice_Site_p.G401_splice|PARK2_uc003qtz.3_Splice_Site_p.G280_splice|PARK2_uc011egf.1_Splice_Site_p.G103_splice NM_004562 NP_004553 O60260 PRKN2_HUMAN parkin isoform 1 aggresome assembly|central nervous system development|mitochondrion degradation|negative regulation of actin filament bundle assembly|negative regulation of cell death|negative regulation of protein phosphorylation|negative regulation of release of cytochrome c from mitochondria|neuron death|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autoubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein monoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of autophagy|regulation of reactive oxygen species metabolic process aggresome|cytosol|endoplasmic reticulum|Golgi apparatus|mitochondrion|nucleus|perinuclear region of cytoplasm chaperone binding|PDZ domain binding|protein kinase binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding upper_aerodigestive_tract(1) 1 all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102) UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046) CACAGACTCACCATTTTTTTC 0.388 NA 35 305 4.14481e-20 4.99597e-20 0.00623 1 0 CARD11 84433 broad.mit.edu 37 7 2983995 2983995 + Missense_Mutation SNP G G A TCGA-49-4501-01A-01D-1265-08 TCGA-49-4501-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0c53bb1b-5e6f-44a8-97a0-f89d43e0e789 3f0cb3e3-47ac-433e-af67-ae24596e7d6b g.chr7:2983995G>A uc003smv.2 - 5 939 c.535C>T c.(535-537)CGG>TGG p.R179W NM_032415 NP_115791 Q9BXL7 CAR11_HUMAN caspase recruitment domain family, member 11 179 Potential. positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway cytosol|membrane raft|plasma membrane CARD domain binding|guanylate kinase activity p.R172W(1) haematopoietic_and_lymphoid_tissue(43)|ovary(2)|kidney(2)|skin(2)|central_nervous_system(1) 50 Ovarian(82;0.0115) OV - Ovarian serous cystadenocarcinoma(56;8.44e-14) TTGTAGTACCGCTCCTGGAAG 0.577 NA Mis DLBCL 11 180 0 0 0.008291 0 0 HOXA9 3205 broad.mit.edu 37 7 27203329 27203329 + Missense_Mutation SNP C C T TCGA-49-4501-01A-01D-1265-08 TCGA-49-4501-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0c53bb1b-5e6f-44a8-97a0-f89d43e0e789 3f0cb3e3-47ac-433e-af67-ae24596e7d6b g.chr7:27203329C>T uc003syt.2 - 2 785 c.712G>A c.(712-714)GAG>AAG p.E238K NM_152739 NP_689952 P31269 HXA9_HUMAN homeobox A9 238 Homeobox. protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity lung(1)|central_nervous_system(1) 2 CGAGCCACCTCGTACCTGCGG 0.507 NA T NUP98|MSI2 AML* 23 177 0 0 0.007291 0 0 KBTBD2 25948 broad.mit.edu 37 7 32909720 32909720 + Missense_Mutation SNP C C T TCGA-49-4501-01A-01D-1265-08 TCGA-49-4501-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0c53bb1b-5e6f-44a8-97a0-f89d43e0e789 3f0cb3e3-47ac-433e-af67-ae24596e7d6b g.chr7:32909720C>T uc003tdb.2 - 4 1768 c.1109G>A c.(1108-1110)CGC>CAC p.R370H AVL9_uc011kai.1_Intron NM_015483 NP_056298 Q8IY47 KBTB2_HUMAN kelch repeat and BTB (POZ) domain containing 2 370 Kelch 1. 0 GBM - Glioblastoma multiforme(11;0.0499) TGGCTTTATGCGGACAAAAAG 0.428 NA 4 192 0 0 0.009096 0 0 PTPN12 5782 broad.mit.edu 37 7 77256457 77256457 + Silent SNP C C G TCGA-49-4501-01A-01D-1265-08 TCGA-49-4501-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0c53bb1b-5e6f-44a8-97a0-f89d43e0e789 3f0cb3e3-47ac-433e-af67-ae24596e7d6b g.chr7:77256457C>G uc003ugh.2 + 13 1552 c.1461C>G c.(1459-1461)GTC>GTG p.V487V PTPN12_uc011kgp.1_Silent_p.V368V|PTPN12_uc011kgq.1_Silent_p.V357V|PTPN12_uc010lds.2_Silent_p.V219V NM_002835 NP_002826 Q05209 PTN12_HUMAN protein tyrosine phosphatase, non-receptor type 487 soluble fraction non-membrane spanning protein tyrosine phosphatase activity|SH3 domain binding ovary(1)|breast(1)|pancreas(1) 3 ATCTAAATGTCGGTGATACTT 0.383 NA 5 142 0 0 0.014758 0 0 CALD1 800 broad.mit.edu 37 7 134635162 134635162 + Missense_Mutation SNP G G A TCGA-49-4501-01A-01D-1265-08 TCGA-49-4501-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0c53bb1b-5e6f-44a8-97a0-f89d43e0e789 3f0cb3e3-47ac-433e-af67-ae24596e7d6b g.chr7:134635162G>A uc003vrz.2 + 9 2291 c.1832G>A c.(1831-1833)CGA>CAA p.R611Q CALD1_uc003vry.2_Missense_Mutation_p.R356Q|CALD1_uc003vsa.2_Missense_Mutation_p.R382Q|CALD1_uc003vsb.2_Missense_Mutation_p.R356Q|CALD1_uc010lmm.2_Missense_Mutation_p.R382Q|CALD1_uc011kpt.1_Missense_Mutation_p.R130Q|CALD1_uc003vsc.2_Missense_Mutation_p.R376Q|CALD1_uc003vsd.2_Missense_Mutation_p.R350Q|CALD1_uc011kpu.1_Missense_Mutation_p.R361Q|CALD1_uc011kpv.1_Missense_Mutation_p.R220Q|CALD1_uc003vse.2_Missense_Mutation_p.R475Q NM_033138 NP_149129 Q05682 CALD1_HUMAN caldesmon 1 isoform 1 611 Tropomyosin-binding (Potential). cellular component movement|muscle contraction cytosol|focal adhesion|myofibril actin binding|calmodulin binding|myosin binding|tropomyosin binding 0 ATTGAAAGGCGAAGAGCAGAA 0.458 NA 4 85 0 0 0.009096 0 0 CNTNAP2 26047 broad.mit.edu 37 7 146741075 146741075 + Missense_Mutation SNP G G A rs138738227 by1000genomes TCGA-49-4501-01A-01D-1265-08 TCGA-49-4501-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0c53bb1b-5e6f-44a8-97a0-f89d43e0e789 3f0cb3e3-47ac-433e-af67-ae24596e7d6b g.chr7:146741075G>A uc003weu.1 + 4 995 c.479G>A c.(478-480)CGC>CAC p.R160H NM_014141 NP_054860 Q9UHC6 CNTP2_HUMAN cell recognition molecule Caspr2 precursor 160 F5/8 type C.|Extracellular (Potential). behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex receptor binding ovary(9)|central_nervous_system(1)|pancreas(1) 11 Melanoma(164;0.153) all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794) OV - Ovarian serous cystadenocarcinoma(82;0.0319) CGCTATGTGCGCATAGTGCCT 0.433 NA HNSCC(39;0.1) 4 186 0 0 0.001168 0 0 ZFAND1 79752 broad.mit.edu 37 8 82626245 82626245 + Nonsense_Mutation SNP G G A TCGA-49-4501-01A-01D-1265-08 TCGA-49-4501-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0c53bb1b-5e6f-44a8-97a0-f89d43e0e789 3f0cb3e3-47ac-433e-af67-ae24596e7d6b g.chr8:82626245G>A uc003ycj.1 - 6 402 c.388C>T c.(388-390)CGA>TGA p.R130* ZFAND1_uc010lzx.1_Nonsense_Mutation_p.R130*|ZFAND1_uc003yck.1_Nonsense_Mutation_p.R23* NM_024699 NP_078975 Q8TCF1 ZFAN1_HUMAN zinc finger, AN1-type domain 1 130 zinc ion binding p.R130*(1) ovary(1) 1 CCTTTCCATCGTTTACTTGCT 0.343 NA 4 85 0 0 0.009096 0 0 VLDLR 7436 broad.mit.edu 37 9 2635511 2635511 + Silent SNP G G A TCGA-49-4501-01A-01D-1265-08 TCGA-49-4501-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0c53bb1b-5e6f-44a8-97a0-f89d43e0e789 3f0cb3e3-47ac-433e-af67-ae24596e7d6b g.chr9:2635511G>A uc003zhk.1 + 2 538 c.141G>A c.(139-141)ACG>ACA p.T47T VLDLR_uc003zhl.1_Silent_p.T47T|VLDLR_uc003zhm.1_RNA|VLDLR_uc003zhn.1_Silent_p.T47T NM_003383 NP_003374 P98155 VLDLR_HUMAN very low density lipoprotein receptor isoform a 47 Extracellular (Potential).|LDL-receptor class A 1. cholesterol metabolic process|endocytosis|lipid transport|memory|very-low-density lipoprotein particle clearance coated pit|integral to membrane|membrane fraction|plasma membrane|very-low-density lipoprotein particle apolipoprotein binding|calcium ion binding|low-density lipoprotein receptor activity|very-low-density lipoprotein particle receptor activity ovary(1)|central_nervous_system(1)|pancreas(1) 3 GBM - Glioblastoma multiforme(50;0.0668)|Lung(218;0.123) GCTGTATTACGCTGTTGTGGA 0.408 NA 11 265 0 0 0.016723 0 0 NUDT2 318 broad.mit.edu 37 9 34343338 34343338 + Missense_Mutation SNP G G A TCGA-49-4501-01A-01D-1265-08 TCGA-49-4501-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0c53bb1b-5e6f-44a8-97a0-f89d43e0e789 3f0cb3e3-47ac-433e-af67-ae24596e7d6b g.chr9:34343338G>A uc003zub.2 + 5 702 c.344G>A c.(343-345)CGC>CAC p.R115H NUDT2_uc003zuc.2_Missense_Mutation_p.R115H|NUDT2_uc003zud.2_Missense_Mutation_p.R115H NM_001161 NP_001152 P50583 AP4A_HUMAN nudix-type motif 2 115 Nudix hydrolase. induction of apoptosis|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process bis(5'-nucleosyl)-tetraphosphatase (asymmetrical) activity|bis(5'-nucleosyl)-tetraphosphatase (symmetrical) activity|GTP binding 0 LUSC - Lung squamous cell carcinoma(29;0.0107) GBM - Glioblastoma multiforme(74;0.126) CAAGCCTACCGCTGGCTGGGG 0.562 Melanoma(95;1683 1957 4276 39813) NA 4 39 0 0 0.020292 0 0 IKBKAP 8518 broad.mit.edu 37 9 111668633 111668633 + Silent SNP C C T TCGA-49-4501-01A-01D-1265-08 TCGA-49-4501-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0c53bb1b-5e6f-44a8-97a0-f89d43e0e789 3f0cb3e3-47ac-433e-af67-ae24596e7d6b g.chr9:111668633C>T uc004bdm.3 - 14 2113 c.1593G>A c.(1591-1593)TTG>TTA p.L531L IKBKAP_uc004bdl.2_Silent_p.L182L|IKBKAP_uc011lwc.1_Silent_p.L417L|IKBKAP_uc010mtq.2_Silent_p.L182L NM_003640 NP_003631 O95163 ELP1_HUMAN inhibitor of kappa light polypeptide gene 531 immune response|protein complex assembly|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|DNA-directed RNA polymerase II, holoenzyme|nucleolus|transcription elongation factor complex phosphorylase kinase regulator activity|protein binding|signal transducer activity ovary(2)|skin(2)|upper_aerodigestive_tract(1)|breast(1)|kidney(1) 7 AAGCTGCAGTCAAATGGTGAA 0.473 NA 21 84 0 0 0.012319 0 0 OR1J2 26740 broad.mit.edu 37 9 125273234 125273234 + Missense_Mutation SNP G G A TCGA-49-4501-01A-01D-1265-08 TCGA-49-4501-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0c53bb1b-5e6f-44a8-97a0-f89d43e0e789 3f0cb3e3-47ac-433e-af67-ae24596e7d6b g.chr9:125273234G>A uc004bmj.1 + 4 1009 c.154G>A c.(154-156)GAC>AAC p.D52N OR1J2_uc011lyv.1_Missense_Mutation_p.D52N NM_054107 NP_473448 Q8NGS2 OR1J2_HUMAN olfactory receptor, family 1, subfamily J, 52 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(3)|pancreas(1)|breast(1) 5 CATCCAGCTGGACTCTCACCT 0.547 NA 34 178 0 0 0.019004 0 0 SCAI 286205 broad.mit.edu 37 9 127765392 127765392 + Splice_Site SNP C C A TCGA-49-4501-01A-01D-1265-08 TCGA-49-4501-11A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0c53bb1b-5e6f-44a8-97a0-f89d43e0e789 3f0cb3e3-47ac-433e-af67-ae24596e7d6b g.chr9:127765392C>A uc004bpe.2 - 11 1146 c.1065_splice c.e11+1 p.K355_splice SCAI_uc004bpd.2_Splice_Site_p.K378_splice|SCAI_uc010mwu.2_Splice_Site NM_001144877 NP_001138349 Q8N9R8 SCAI_HUMAN suppressor of cancer cell invasion isoform 2 negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|integral to membrane|nucleus protein binding|transcription corepressor activity ovary(2)|breast(2)|central_nervous_system(1) 5 ATCACACATACCTTAAAAGAC 0.383 NA 56 239 3.89483e-19 4.65311e-19 0.01441 1 0 MAP7D2 256714 broad.mit.edu 37 X 20031731 20031731 + Missense_Mutation SNP T T G TCGA-49-4501-01A-01D-1265-08 TCGA-49-4501-11A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0c53bb1b-5e6f-44a8-97a0-f89d43e0e789 3f0cb3e3-47ac-433e-af67-ae24596e7d6b g.chrX:20031731T>G uc004czr.1 - 12 1658 c.1639A>C c.(1639-1641)ATC>CTC p.I547L MAP7D2_uc004czq.1_Missense_Mutation_p.I432L|MAP7D2_uc011mji.1_Missense_Mutation_p.I495L|MAP7D2_uc010nfo.1_Missense_Mutation_p.I588L|MAP7D2_uc011mjj.1_Missense_Mutation_p.I502L NM_152780 NP_689993 Q96T17 MA7D2_HUMAN MAP7 domain containing 2 547 ovary(2)|breast(1) 3 CTCTTCATGATTTCATCTATT 0.308 NA 8 109 0 0 0.00308 0 0 MAGED1 9500 broad.mit.edu 37 X 51645010 51645010 + Missense_Mutation SNP T T A TCGA-49-4501-01A-01D-1265-08 TCGA-49-4501-11A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0c53bb1b-5e6f-44a8-97a0-f89d43e0e789 3f0cb3e3-47ac-433e-af67-ae24596e7d6b g.chrX:51645010T>A uc004dpm.2 + 12 2416 c.2321T>A c.(2320-2322)TTC>TAC p.F774Y MAGED1_uc004dpn.2_Missense_Mutation_p.F830Y|MAGED1_uc004dpo.2_Missense_Mutation_p.F774Y NM_001005332 NP_001005332 Q9Y5V3 MAGD1_HUMAN melanoma antigen family D, 1 isoform b 774 apoptosis|induction of apoptosis by extracellular signals|negative regulation of epithelial cell proliferation|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent cytoplasm|plasma membrane|protein complex protein binding ovary(3) 3 Ovarian(276;0.236) GCCATTGGTTTCTTCTGGGTT 0.512 NA Multiple Myeloma(10;0.10) 11 30 0 0 0.008291 0 0 SSX8 280659 broad.mit.edu 37 X 52654550 52654550 + Splice_Site SNP A A T TCGA-49-4501-01A-01D-1265-08 TCGA-49-4501-11A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0c53bb1b-5e6f-44a8-97a0-f89d43e0e789 3f0cb3e3-47ac-433e-af67-ae24596e7d6b g.chrX:52654550A>T uc011moa.1 + 3 c.354_splice c.e3-2 SSX8_uc011mob.1_Splice_Site Homo sapiens cDNA FLJ56587 complete cds, highly similar to Protein SSX8. 0 TTTTTTTTTTAGGCCTTCAAT 0.413 NA 4 56 0 0 0.014758 0 0 ATRX 546 broad.mit.edu 37 X 76939965 76939965 + Silent SNP G G A TCGA-49-4501-01A-01D-1265-08 TCGA-49-4501-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0c53bb1b-5e6f-44a8-97a0-f89d43e0e789 3f0cb3e3-47ac-433e-af67-ae24596e7d6b g.chrX:76939965G>A uc004ecp.3 - 9 1015 c.783C>T c.(781-783)AAC>AAT p.N261N ATRX_uc004ecq.3_Silent_p.N223N|ATRX_uc004eco.3_Silent_p.N46N|ATRX_uc004ecr.2_Silent_p.N222N|ATRX_uc010nlx.1_Silent_p.N261N|ATRX_uc010nly.1_Silent_p.N206N NM_000489 NP_000480 P46100 ATRX_HUMAN transcriptional regulator ATRX isoform 1 261 ADD.|PHD-type; atypical. DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent nuclear heterochromatin ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding haematopoietic_and_lymphoid_tissue(14)|pancreas(12)|lung(1)|breast(1)|skin(1)|kidney(1) 30 Phosphatidylserine(DB00144) AATACCATTGGTTGTTTTCAT 0.393 NA Mis|F|N Pancreatic neuroendocrine tumors ATR-X (alpha thalassemia/mental retardation) syndrome 28 268 0 0 0.00632 0 0 SPANXE 171489 broad.mit.edu 37 X 140785820 140785820 + Nonsense_Mutation SNP G G T TCGA-49-4501-01A-01D-1265-08 TCGA-49-4501-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0c53bb1b-5e6f-44a8-97a0-f89d43e0e789 3f0cb3e3-47ac-433e-af67-ae24596e7d6b g.chrX:140785820G>T uc004fbq.2 - 2 189 c.96C>A c.(94-96)TAC>TAA p.Y32* NM_145665 NP_663698 Q8TAD1 SPNXE_HUMAN SPANX family, member E 32 cytoplasm|nucleus 0 Acute lymphoblastic leukemia(192;7.65e-05) GCGGGTCTGAGTACCCACTCG 0.488 NA 9 334 5.50884e-06 6.30248e-06 0.013537 1 0 CXorf40A 91966 broad.mit.edu 37 X 148628443 148628443 + Missense_Mutation SNP G G C TCGA-49-4501-01A-01D-1265-08 TCGA-49-4501-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0c53bb1b-5e6f-44a8-97a0-f89d43e0e789 3f0cb3e3-47ac-433e-af67-ae24596e7d6b g.chrX:148628443G>C uc004fdb.2 + 5 684 c.412G>C c.(412-414)GGA>CGA p.G138R CXorf40A_uc011mxm.1_Missense_Mutation_p.G138R|CXorf40A_uc011mxn.1_Missense_Mutation_p.G138R|CXorf40A_uc004fdd.2_Missense_Mutation_p.G138R|CXorf40A_uc004fde.1_Missense_Mutation_p.G138R|CXorf40A_uc011mxo.1_3'UTR|CXorf40A_uc004fdg.2_Missense_Mutation_p.G138R|CXorf40A_uc004fdf.2_Missense_Mutation_p.G138R|CXorf40A_uc004fdh.2_Missense_Mutation_p.G138R|CXorf40A_uc010nsy.2_Missense_Mutation_p.G138R|CXorf40A_uc004fdi.2_Missense_Mutation_p.G155R NM_178124 NP_835225 Q8TE69 CX04A_HUMAN chromosome X open reading frame 40 138 protein binding 0 Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662) ACCTAGGAAAGGAGGCAAGGA 0.488 NA 3 82 0 0 0.009096 0 0 VAMP7 6845 broad.mit.edu 37 X 155127856 155127856 + Silent SNP G G A TCGA-49-4501-01A-01D-1265-08 TCGA-49-4501-11A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0c53bb1b-5e6f-44a8-97a0-f89d43e0e789 3f0cb3e3-47ac-433e-af67-ae24596e7d6b g.chrX:155127856G>A uc004fnr.2 + 4 459 c.285G>A c.(283-285)CAG>CAA p.Q95Q VAMP7_uc004fnt.2_Silent_p.Q54Q|VAMP7_uc011naa.1_Silent_p.Q56Q|VAMP7_uc011nab.1_5'UTR|VAMP7_uc004fns.2_Silent_p.Q95Q|VAMP7_uc011nac.1_Silent_p.Q28Q NM_005638 NP_005629 P51809 VAMP7_HUMAN vesicle-associated membrane protein 7 isoform 1 95 Longin.|Cytoplasmic (Potential). calcium ion-dependent exocytosis|endosome to lysosome transport|eosinophil degranulation|ER to Golgi vesicle-mediated transport|neutrophil degranulation|phagocytosis, engulfment|post-Golgi vesicle-mediated transport|protein transport|vesicle fusion endoplasmic reticulum membrane|Golgi apparatus|integral to membrane|late endosome membrane|lysosomal membrane|phagocytic vesicle membrane|plasma membrane|SNARE complex|transport vesicle membrane protein binding 0 all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) CAAGAGCACAGACAGCACTTC 0.398 NA 13 183 0 0 0.003163 0 0 DNAJC11 55735 broad.mit.edu 37 1 6727803 6727804 + Frame_Shift_Del DEL TC TC - TCGA-49-4501-01A-01D-1265-08 TCGA-49-4501-11A-01D-1265-08 TC TC - - TC TC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0c53bb1b-5e6f-44a8-97a0-f89d43e0e789 3f0cb3e3-47ac-433e-af67-ae24596e7d6b g.chr1:6727803_6727804delTC uc001aof.2 - 4 449_450 c.343_344delGA c.(343-345)GAAfs p.E115fs DNAJC11_uc010nzt.1_Frame_Shift_Del_p.E77fs|DNAJC11_uc001aog.2_Frame_Shift_Del_p.E115fs|DNAJC11_uc010nzu.1_Frame_Shift_Del_p.E25fs NM_018198 NP_060668 Q9NVH1 DJC11_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 11 115 protein folding heat shock protein binding|unfolded protein binding ovary(1)|skin(1) 2 Ovarian(185;0.0265)|all_lung(157;0.154) all_cancers(23;1.97e-27)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156) Colorectal(212;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649) TCTCCTCTCTTCTCTCTCTCTC 0.505 NA 7 114 --- --- --- --- NA NA NA NA NA MAN1A2 10905 broad.mit.edu 37 1 117944999 117945019 + In_Frame_Del DEL TAGGAATACGTGGTGGAGACC TAGGAATACGTGGTGGAGACC - TCGA-49-4501-01A-01D-1265-08 TCGA-49-4501-11A-01D-1265-08 TAGGAATACGTGGTGGAGACC TAGGAATACGTGGTGGAGACC - - TAGGAATACGTGGTGGAGACC TAGGAATACGTGGTGGAGACC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0c53bb1b-5e6f-44a8-97a0-f89d43e0e789 3f0cb3e3-47ac-433e-af67-ae24596e7d6b g.chr1:117944999_117945019delTAGGAATACGTGGTGGAGACC uc001ehd.1 + 2 1215_1235 c.494_514delTAGGAATACGTGGTGGAGACC c.(493-516)GTAGGAATACGTGGTGGAGACCCA>GCA p.165_172VGIRGGDP>A MAN1A2_uc009whg.1_Intron NM_006699 NP_006690 O60476 MA1A2_HUMAN mannosidase, alpha, class 1A, member 2 165_172 Lumenal (Potential). N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane|membrane fraction calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity 0 Lung SC(450;0.225) all_cancers(81;7.9e-06)|all_epithelial(167;7.39e-07)|all_lung(203;2.84e-06)|Lung NSC(69;1.99e-05) Lung(183;0.0688)|Kidney(133;0.114)|LUSC - Lung squamous cell carcinoma(189;0.223)|KIRC - Kidney renal clear cell carcinoma(1967;0.237)|Colorectal(144;0.243) CCCAACCTTGTAGGAATACGTGGTGGAGACCCAGAAGATAA 0.371 Ovarian(33;199 881 8228 13687 31538) NA 13 63 --- --- --- --- NA NA NA NA NA UBN1 29855 broad.mit.edu 37 16 4910691 4910693 + In_Frame_Del DEL AGA AGA - TCGA-49-4501-01A-01D-1265-08 TCGA-49-4501-11A-01D-1265-08 AGA AGA - - AGA AGA Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0c53bb1b-5e6f-44a8-97a0-f89d43e0e789 3f0cb3e3-47ac-433e-af67-ae24596e7d6b g.chr16:4910691_4910693delAGA uc002cyb.2 + 7 1037_1039 c.698_700delAGA c.(697-702)GAGAAG>GAG p.K238del UBN1_uc010uxw.1_In_Frame_Del_p.K238del|UBN1_uc002cyc.2_In_Frame_Del_p.K238del NM_001079514 NP_001072982 Q9NPG3 UBN1_HUMAN ubinuclein 1 238 Lys-rich. chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter PML body|tight junction DNA binding|sequence-specific DNA binding transcription factor activity skin(2) 2 GCCAGTAAGGAGAAGAAGAAGAA 0.453 NA 7 547 --- --- --- --- NA NA NA NA NA TOP3A 7156 broad.mit.edu 37 17 18194306 18194307 + In_Frame_Ins INS - - CGA TCGA-49-4501-01A-01D-1265-08 TCGA-49-4501-11A-01D-1265-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0c53bb1b-5e6f-44a8-97a0-f89d43e0e789 3f0cb3e3-47ac-433e-af67-ae24596e7d6b g.chr17:18194306_18194307insCGA uc002gsx.1 - 12 1545_1546 c.1316_1317insTCG c.(1315-1317)CGC>CGTCGC p.439_439R>RR TOP3A_uc010cpz.1_5'UTR|TOP3A_uc010vxr.1_5'UTR|TOP3A_uc002gsw.1_Intron|TOP3A_uc010vxs.1_In_Frame_Ins_p.337_337R>RR NM_004618 NP_004609 Q13472 TOP3A_HUMAN topoisomerase (DNA) III alpha 439 DNA topological change|meiosis chromosome|PML body ATP binding|DNA topoisomerase type I activity|protein binding|zinc ion binding skin(3) 3 CCAGGAAATGGCGAACAATAAA 0.525 NA 17 92 --- --- --- --- NA NA NA NA NA EGFR 1956 broad.mit.edu 37 7 55242466 55242480 + In_Frame_Del DEL GAATTAAGAGAAGCA GAATTAAGAGAAGCA - rs121913426 TCGA-49-4501-01A-01D-1265-08 TCGA-49-4501-11A-01D-1265-08 GAATTAAGAGAAGCA GAATTAAGAGAAGCA - - GAATTAAGAGAAGCA GAATTAAGAGAAGCA Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0c53bb1b-5e6f-44a8-97a0-f89d43e0e789 3f0cb3e3-47ac-433e-af67-ae24596e7d6b g.chr7:55242466_55242480delGAATTAAGAGAAGCA uc003tqk.2 + 19 2482_2496 c.2236_2250delGAATTAAGAGAAGCA c.(2236-2250)GAATTAAGAGAAGCAdel p.ELREA746del EGFR_uc010kzg.1_In_Frame_Del_p.ELREA701del|EGFR_uc011kco.1_In_Frame_Del_p.ELREA693del NM_005228 NP_005219 P00533 EGFR_HUMAN epidermal growth factor receptor isoform a 746_750 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.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.A750P(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.A750_E758>P(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.A750_K754del(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.A750_E758del(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.T751_E758del(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) CGCTATCAAGGAATTAAGAGAAGCAACATCTCCGA 0.474 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) 22 148 --- --- --- --- NA NA NA NA NA