Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values CDCP2 200008 broad.mit.edu 37 1 54605749 54605749 + Missense_Mutation SNP C C A TCGA-06-6699-01A-11D-1845-08 TCGA-06-6699-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90ba858d-e3bb-40d8-98ee-eeb127c58409 d5b55d58-8b00-41db-8a67-414f0577fc59 g.chr1:54605749C>A uc001cwv.1 - 3 1642 c.794G>T c.(793-795)cGg>cTg p.R265L NM_201546 NP_963840 Q5VXM1 CDCP2_HUMAN Homo sapiens CUB domain containing protein 2 (CDCP2), mRNA. 265 CUB 3. extracellular region kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|stomach(1) 24 GAAGTTGCCCCGCATGGCCAT 0.602 NBPF10 100132406 broad.mit.edu 37 1 145324371 145324371 + Missense_Mutation SNP T T C TCGA-06-6699-01A-11D-1845-08 TCGA-06-6699-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90ba858d-e3bb-40d8-98ee-eeb127c58409 d5b55d58-8b00-41db-8a67-414f0577fc59 g.chr1:145324371T>C uc021oul.1 + 27 3601 c.3566T>C c.(3565-3567)gTa>gCa p.V1189A NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|NBPF10_uc010oyi.2_Intron|NBPF10_uc010oyj.2_Intron|NBPF10_uc010oyl.2_Intron|NBPF10_uc001enc.2_Intron|NBPF10_uc021oum.1_Intron|NBPF10_uc021oun.1_Intron|NBPF10_uc021ouo.1_Intron|NBPF10_uc021oup.1_Intron|NBPF10_uc010oyp.1_Non-coding_Transcript NM_001039703 NP_001034792 A6NDV3 A6NDV3_HUMAN Homo sapiens neuroblastoma breakpoint family, member 10 (NBPF10), mRNA. 1189 NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) CTGCTGGAGGTAGTAGCGCCT 0.498 GPR137B 7107 broad.mit.edu 37 1 236343286 236343286 + Silent SNP C C T TCGA-06-6699-01A-11D-1845-08 TCGA-06-6699-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90ba858d-e3bb-40d8-98ee-eeb127c58409 d5b55d58-8b00-41db-8a67-414f0577fc59 g.chr1:236343286C>T uc001hxq.3 + 3 886 c.795C>T c.(793-795)agC>agT p.S265S NM_003272 NP_003263 O60478 G137B_HUMAN Homo sapiens G protein-coupled receptor 137B (GPR137B), mRNA. 265 integral to plasma membrane|membrane fraction endometrium(2)|large_intestine(1)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 16 Ovarian(103;0.0634)|Breast(184;0.247) all_cancers(173;0.197)|Prostate(94;0.219)|Acute lymphoblastic leukemia(190;0.226) OV - Ovarian serous cystadenocarcinoma(106;0.00162) AGAACAAGAGCGTCCATTCCT 0.527 HSD17B7P2 158160 broad.mit.edu 37 10 38654432 38654432 + Missense_Mutation SNP A A G rs2257765 TCGA-06-6699-01A-11D-1845-08 TCGA-06-6699-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90ba858d-e3bb-40d8-98ee-eeb127c58409 d5b55d58-8b00-41db-8a67-414f0577fc59 g.chr10:38654432A>G uc010qex.1 + 4 599 c.524A>G c.(523-525)aAt>aGt p.N175S HSD17B7P2_uc001izq.3_Non-coding_Transcript|HSD17B7P2_uc001izo.1_Non-coding_Transcript|HSD17B7P2_uc001izp.1_Missense_Mutation_p.N173S Homo sapiens hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2 (HSD17B7P2), non-coding RNA. TCATCTCGCAATGCAAGGAAA 0.453 DTX4 23220 broad.mit.edu 37 11 58949764 58949764 + Missense_Mutation SNP C C T TCGA-06-6699-01A-11D-1845-08 TCGA-06-6699-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90ba858d-e3bb-40d8-98ee-eeb127c58409 d5b55d58-8b00-41db-8a67-414f0577fc59 g.chr11:58949764C>T uc001nns.2 + 1 1021 c.764C>T c.(763-765)tCg>tTg p.S255L DTX4_uc001nnr.2_Missense_Mutation_p.S149L NM_015177 NP_055992 Q9Y2E6 DTX4_HUMAN Homo sapiens deltex homolog 4 (Drosophila) (DTX4), mRNA. 255 Notch signaling pathway cytoplasm zinc ion binding central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1) 20 all_epithelial(135;0.125) ACCGCCCCATCGCAGGTGATC 0.657 MMP13 4322 broad.mit.edu 37 11 102826186 102826186 + Missense_Mutation SNP C C T TCGA-06-6699-01A-11D-1845-08 TCGA-06-6699-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90ba858d-e3bb-40d8-98ee-eeb127c58409 d5b55d58-8b00-41db-8a67-414f0577fc59 g.chr11:102826186C>T uc001phl.3 - 1 186 c.157G>A c.(157-159)Gcg>Acg p.A53T NM_002427 NP_002418 P45452 MMP13_HUMAN Homo sapiens matrix metallopeptidase 13 (collagenase 3) (MMP13), mRNA. 53 collagen catabolic process|proteolysis extracellular space metalloendopeptidase activity|zinc ion binding p.A53A(1) NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|skin(1)|stomach(1) 27 all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) BRCA - Breast invasive adenocarcinoma(274;0.0144) AGGATTCCCGCGAGATTTGTA 0.458 IL23A 51561 broad.mit.edu 37 12 56733735 56733735 + Silent SNP T T C TCGA-06-6699-01A-11D-1845-08 TCGA-06-6699-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90ba858d-e3bb-40d8-98ee-eeb127c58409 d5b55d58-8b00-41db-8a67-414f0577fc59 g.chr12:56733735T>C uc001sla.3 + 3 583 c.417T>C c.(415-417)ggT>ggC p.G139G NM_016584 NP_057668 Q9NPF7 IL23A_HUMAN Homo sapiens interleukin 23, alpha subunit p19 (IL23A), mRNA. 139 defense response to Gram-negative bacterium|inflammatory response|innate immune response|negative regulation of interleukin-10 production|positive regulation of activated T cell proliferation|positive regulation of activation of JAK2 kinase activity|positive regulation of defense response to virus by host|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-17 production|positive regulation of memory T cell differentiation|positive regulation of natural killer cell proliferation|positive regulation of NF-kappaB import into nucleus|positive regulation of NK T cell activation|positive regulation of NK T cell proliferation|positive regulation of osteoclast differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat4 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|regulation of tyrosine phosphorylation of Stat1 protein|response to virus|tissue remodeling interleukin-23 complex cytokine activity kidney(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(1) 5 AGCCTGAGGGTCACCACTGGG 0.572 CUX2 23316 broad.mit.edu 37 12 111785603 111785603 + Missense_Mutation SNP G G A TCGA-06-6699-01A-11D-1845-08 TCGA-06-6699-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90ba858d-e3bb-40d8-98ee-eeb127c58409 d5b55d58-8b00-41db-8a67-414f0577fc59 g.chr12:111785603G>A uc001tsa.2 + 21 4089 c.3935G>A c.(3934-3936)gGc>gAc p.G1312D NM_015267 NP_056082 O14529 CUX2_HUMAN Homo sapiens cut-like homeobox 2 (CUX2), mRNA. 1312 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 55 GAAGAGGCAGGCAGCCAGCCC 0.612 FAM124A 220108 broad.mit.edu 37 13 51825704 51825704 + Silent SNP C C T TCGA-06-6699-01A-11D-1845-08 TCGA-06-6699-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90ba858d-e3bb-40d8-98ee-eeb127c58409 d5b55d58-8b00-41db-8a67-414f0577fc59 g.chr13:51825704C>T uc001vff.2 + 3 477 c.309C>T c.(307-309)aaC>aaT p.N103N FAM124A_uc001vfe.3_Silent_p.N67N|FAM124A_uc001vfg.2_Silent_p.N67N NM_145019 NP_659456 Q86V42 F124A_HUMAN Homo sapiens family with sequence similarity 124A (FAM124A), transcript variant 1, mRNA. 67 breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|skin(1) 26 Acute lymphoblastic leukemia(7;0.000334)|Breast(56;0.00156)|Prostate(109;0.00538)|Lung NSC(96;0.0216)|Hepatocellular(98;0.152)|Glioma(44;0.236) GBM - Glioblastoma multiforme(99;4.25e-07) CCATCGACAACGTCCTGGCGT 0.687 MAX 4149 broad.mit.edu 37 14 65569050 65569050 + Missense_Mutation SNP T T A TCGA-06-6699-01A-11D-1845-08 TCGA-06-6699-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90ba858d-e3bb-40d8-98ee-eeb127c58409 d5b55d58-8b00-41db-8a67-414f0577fc59 g.chr14:65569050T>A uc001xif.1 - 0 178 c.8A>T c.(7-9)gAt>gTt p.D3V MAX_uc001xic.1_Missense_Mutation_p.D3V|MAX_uc001xie.1_Missense_Mutation_p.D3V|MAX_uc001xig.1_Missense_Mutation_p.D3V|MAX_uc001xih.1_Non-coding_Transcript|MAX_uc001xii.1_Missense_Mutation_p.D3V|MAX_uc001xij.1_Missense_Mutation_p.D3V|MAX_uc001xik.3_Missense_Mutation_p.D3V NM_002382 NP_002373 P61244 MAX_HUMAN Homo sapiens MYC associated factor X (MAX), transcript variant 1, mRNA. 3 transcription from RNA polymerase II promoter cytoplasm|MLL1 complex sequence-specific DNA binding transcription factor activity|transcription coactivator activity breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1) 17 all cancers(60;0.000776)|OV - Ovarian serous cystadenocarcinoma(108;0.00359)|BRCA - Breast invasive adenocarcinoma(234;0.00999) GTCATCGTTATCGCTCATTTC 0.667 ISM2 145501 broad.mit.edu 37 14 77942269 77942269 + Missense_Mutation SNP C C T TCGA-06-6699-01A-11D-1845-08 TCGA-06-6699-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90ba858d-e3bb-40d8-98ee-eeb127c58409 d5b55d58-8b00-41db-8a67-414f0577fc59 g.chr14:77942269C>T uc001xtz.3 - 6 1459 c.1385G>A c.(1384-1386)cGc>cAc p.R462H ISM2_uc001xua.3_3'UTR|ISM2_uc001xty.3_Missense_Mutation_p.R374H NM_199296 NP_954993 Q6H9L7 ISM2_HUMAN Homo sapiens isthmin 2 homolog (zebrafish) (ISM2), transcript variant 1, mRNA. 462 AMOP. extracellular region endometrium(3)|large_intestine(4)|lung(11)|prostate(1)|skin(1)|urinary_tract(1) 21 CAGGCGCTCGCGAGGGCCACT 0.672 ATG2B 55102 broad.mit.edu 37 14 96752258 96752258 + Missense_Mutation SNP A A C TCGA-06-6699-01A-11D-1845-08 TCGA-06-6699-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90ba858d-e3bb-40d8-98ee-eeb127c58409 d5b55d58-8b00-41db-8a67-414f0577fc59 g.chr14:96752258A>C uc001yfi.3 - 41 6436 c.6071T>G c.(6070-6072)gTg>gGg p.V2024G NM_018036 NP_060506 Q96BY7 ATG2B_HUMAN Homo sapiens ATG2 autophagy related 2 homolog B (S. cerevisiae) (ATG2B), mRNA. 2024 breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7) 64 all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155) Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244) GGCACCAGTCACCCCTCTGCT 0.582 C15orf2 23742 broad.mit.edu 37 15 24921107 24921107 + Silent SNP C C T TCGA-06-6699-01A-11D-1845-08 TCGA-06-6699-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90ba858d-e3bb-40d8-98ee-eeb127c58409 d5b55d58-8b00-41db-8a67-414f0577fc59 g.chr15:24921107C>T uc001ywo.3 + 0 567 c.93C>T c.(91-93)gaC>gaT p.D31D NM_018958 NP_061831 Q9NZP6 CO002_HUMAN Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA. 31 cell differentiation|multicellular organismal development|spermatogenesis NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(1)|large_intestine(28)|lung(77)|ovary(5)|pancreas(1)|skin(8) 140 all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086) all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229) TGTCCCGGGACGCCTCCCCGC 0.697 OCA2 4948 broad.mit.edu 37 15 28273201 28273201 + Missense_Mutation SNP G G A TCGA-06-6699-01A-11D-1845-08 TCGA-06-6699-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90ba858d-e3bb-40d8-98ee-eeb127c58409 d5b55d58-8b00-41db-8a67-414f0577fc59 g.chr15:28273201G>A uc001zbh.4 - 3 441 c.331C>T c.(331-333)Cgg>Tgg p.R111W OCA2_uc010ayv.3_Missense_Mutation_p.R111W NM_000275 NP_000266 Q04671 P_HUMAN Homo sapiens oculocutaneous albinism II (OCA2), mRNA. 111 eye pigment biosynthetic process endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 85 all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234) all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045) GGTATGCACCGTGACCTGGAA 0.488 Oculocutaneous Albinism WDR76 79968 broad.mit.edu 37 15 44150913 44150913 + Missense_Mutation SNP G G A TCGA-06-6699-01A-11D-1845-08 TCGA-06-6699-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90ba858d-e3bb-40d8-98ee-eeb127c58409 d5b55d58-8b00-41db-8a67-414f0577fc59 g.chr15:44150913G>A uc001zti.2 + 10 1573 c.1454G>A c.(1453-1455)aGt>aAt p.S485N WDR76_uc021skg.1_Missense_Mutation_p.S421N NM_024908 NP_001161413 Q9H967 WDR76_HUMAN Homo sapiens WD repeat domain 76 (WDR76), transcript variant 1, mRNA. 485 breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2) 20 all_cancers(109;3.26e-11)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.61e-06)|all_lung(180;1.5e-05)|Melanoma(134;0.0417) all cancers(107;3.78e-21)|GBM - Glioblastoma multiforme(94;5.04e-07) TCCAGGAGAAGTCAGCCTTTG 0.403 ADAMTS7 11173 broad.mit.edu 37 15 79067005 79067005 + Missense_Mutation SNP T T C rs151217691 TCGA-06-6699-01A-11D-1845-08 TCGA-06-6699-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90ba858d-e3bb-40d8-98ee-eeb127c58409 d5b55d58-8b00-41db-8a67-414f0577fc59 g.chr15:79067005T>C uc002bej.4 - 11 2048 c.1837A>G c.(1837-1839)Aag>Gag p.K613E ADAMTS7_uc010und.1_Intron|ADAMTS7_uc002bek.1_Missense_Mutation_p.K613E NM_014272 NP_055087 Q9UKP4 ATS7_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 7 (ADAMTS7), mRNA. 613 Cys-rich. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding p.K613E(2) NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9) 54 AGCTGGCCCTTGTAGAGCATA 0.642 SSTR5 6755 broad.mit.edu 37 16 1129345 1129345 + Silent SNP G G A TCGA-06-6699-01A-11D-1845-08 TCGA-06-6699-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90ba858d-e3bb-40d8-98ee-eeb127c58409 d5b55d58-8b00-41db-8a67-414f0577fc59 g.chr16:1129345G>A uc021taf.1 + 1 548 c.477G>A c.(475-477)gcG>gcA p.A159A LOC146336_uc002cko.3_5'Flank|LOC146336_uc002ckp.1_5'Flank|SSTR5_uc002ckq.3_Silent_p.A159A NM_001172560 NP_001166031 P35346 SSR5_HUMAN Homo sapiens somatostatin receptor 5 (SSTR5), transcript variant 2, mRNA. 159 negative regulation of cell proliferation integral to plasma membrane somatostatin receptor activity endometrium(2)|lung(5)|prostate(1)|skin(1) 9 Hepatocellular(780;0.00369) Octreotide(DB00104) CCAAGCTGGCGAGCGCCGCGG 0.706 MAPK8IP3 23162 broad.mit.edu 37 16 1814345 1814345 + Missense_Mutation SNP A A G TCGA-06-6699-01A-11D-1845-08 TCGA-06-6699-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90ba858d-e3bb-40d8-98ee-eeb127c58409 d5b55d58-8b00-41db-8a67-414f0577fc59 g.chr16:1814345A>G uc010uvl.2 + 18 2285 c.2165A>G c.(2164-2166)aAt>aGt p.N722S MAPK8IP3_uc002cmk.3_Missense_Mutation_p.N721S|MAPK8IP3_uc002cml.3_Missense_Mutation_p.N711S|MAPK8IP3_uc021tah.1_Missense_Mutation_p.N715S NM_015133 NP_055948 Q9UPT6 JIP3_HUMAN Homo sapiens mitogen-activated protein kinase 8 interacting protein 3 (MAPK8IP3), transcript variant 1, mRNA. 721 vesicle-mediated transport Golgi membrane kinesin binding|MAP-kinase scaffold activity|protein kinase binding NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3) 42 TGGAGGCCCAATGAGGACGAC 0.706 ADAMTS18 170692 broad.mit.edu 37 16 77356301 77356301 + Missense_Mutation SNP C C T rs142855321 TCGA-06-6699-01A-11D-1845-08 TCGA-06-6699-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90ba858d-e3bb-40d8-98ee-eeb127c58409 d5b55d58-8b00-41db-8a67-414f0577fc59 g.chr16:77356301C>T uc002ffc.4 - 13 2514 c.2095G>A c.(2095-2097)Ggc>Agc p.G699S ADAMTS18_uc010chc.1_Missense_Mutation_p.G287S|ADAMTS18_uc002ffe.1_Missense_Mutation_p.G395S NM_199355 NP_955387 Q8TE60 ATS18_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 18 (ADAMTS18), mRNA. 699 Cys-rich. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding p.G699S(2) NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 118 TTCACTTTGCCGGACATTGCA 0.403 MYO15A 51168 broad.mit.edu 37 17 18022706 18022706 + Missense_Mutation SNP G G A TCGA-06-6699-01A-11D-1845-08 TCGA-06-6699-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90ba858d-e3bb-40d8-98ee-eeb127c58409 d5b55d58-8b00-41db-8a67-414f0577fc59 g.chr17:18022706G>A uc021trm.1 + 0 811 c.592G>A c.(592-594)Gcg>Acg p.A198T MYO15A_uc021trl.1_Missense_Mutation_p.A198T NM_016239 NP_057323 Q9UKN7 MYO15_HUMAN Homo sapiens myosin XVA (MYO15A), mRNA. 198 Myosin head-like. sensory perception of sound cytoplasm|myosin complex|stereocilium actin binding|ATP binding|calmodulin binding|motor activity breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 99 all_neural(463;0.228) CAGCATCTACGCGTCAGGCGA 0.701 FAM83G 644815 broad.mit.edu 37 17 18891569 18891569 + Silent SNP C C T TCGA-06-6699-01A-11D-1845-08 TCGA-06-6699-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90ba858d-e3bb-40d8-98ee-eeb127c58409 d5b55d58-8b00-41db-8a67-414f0577fc59 g.chr17:18891569C>T uc002guw.3 - 2 848 c.681G>A c.(679-681)ggG>ggA p.G227G SLC5A10_uc002gur.1_Intron|SLC5A10_uc002guu.1_Intron|SLC5A10_uc002gut.1_Intron|SLC5A10_uc002guv.1_Intron|SLC5A10_uc010vyl.1_Intron NM_001039999 NP_001035088 A6ND36 FA83G_HUMAN Homo sapiens family with sequence similarity 83, member G (FAM83G), mRNA. 227 central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1) 22 CCTTGAGGTGCCCCAGGTGCA 0.577 STAT5B 6777 broad.mit.edu 37 17 40370236 40370236 + Frame_Shift_Del DEL G G - rs144993426 TCGA-06-6699-01A-11D-1845-08 TCGA-06-6699-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90ba858d-e3bb-40d8-98ee-eeb127c58409 d5b55d58-8b00-41db-8a67-414f0577fc59 g.chr17:40370236delG uc002hzh.3 - 8 1271 c.1102delC c.(1102-1104)cagfs p.Q368fs STAT5B_uc002hzi.3_Frame_Shift_Del_p.Q368fs NM_012448 NP_036580 P51692 STA5B_HUMAN Homo sapiens signal transducer and activator of transcription 5B (STAT5B), mRNA. 368 2-oxoglutarate metabolic process|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|fatty acid metabolic process|isoleucine metabolic process|JAK-STAT cascade involved in growth hormone signaling pathway|oxaloacetate metabolic process|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process cytosol|nucleoplasm calcium ion binding|glucocorticoid receptor binding|sequence-specific DNA binding transcription factor activity breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 all_cancers(22;4.15e-07)|all_epithelial(22;2.83e-05)|Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.135) Dasatinib(DB01254) GCCTTCACCTGGGGGGGGTTC 0.577 ACE 1636 broad.mit.edu 37 17 61560507 61560507 + Missense_Mutation SNP G G A TCGA-06-6699-01A-11D-1845-08 TCGA-06-6699-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90ba858d-e3bb-40d8-98ee-eeb127c58409 d5b55d58-8b00-41db-8a67-414f0577fc59 g.chr17:61560507G>A uc002jau.2 + 8 1494 c.1460G>A c.(1459-1461)cGc>cAc p.R487H ACE_uc010wpi.2_Intron|ACE_uc010ddu.2_Missense_Mutation_p.R304H|ACE_uc010wpj.2_5'Flank|ACE_uc010ddv.2_5'Flank|ACE_uc002jav.2_5'Flank|ACE_uc002jaw.2_5'Flank|ACE_uc010wpk.2_5'Flank NM_000789 NP_000780 P12821 ACE_HUMAN Homo sapiens angiotensin I converting enzyme (peptidyl-dipeptidase A) 1 (ACE), transcript variant 1, mRNA. 487 Peptidase M2 1. arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 51 Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519) CCCCCTTCCCGCTACAACTTC 0.587 SOX9 6662 broad.mit.edu 37 17 70117873 70117873 + Missense_Mutation SNP T T C TCGA-06-6699-01A-11D-1845-08 TCGA-06-6699-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90ba858d-e3bb-40d8-98ee-eeb127c58409 d5b55d58-8b00-41db-8a67-414f0577fc59 g.chr17:70117873T>C uc002jiw.3 + 0 713 c.341T>C c.(340-342)gTg>gCg p.V114A AK094963_uc002jiv.3_5'Flank NM_000346 NP_000337 P48436 SOX9_HUMAN Homo sapiens SRY (sex determining region Y)-box 9 (SOX9), mRNA. 114 cAMP-mediated signaling|negative regulation of transcription, DNA-dependent|positive regulation of branching involved in ureteric bud morphogenesis|protein complex assembly|renal vesicle induction nucleus|protein complex core promoter sequence-specific DNA binding|enhancer binding|protein kinase A catalytic subunit binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription breast(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(5)|pancreas(1)|upper_aerodigestive_tract(2) 26 Colorectal(1115;0.245) STAD - Stomach adenocarcinoma(260;0.119) GCCTTCATGGTGTGGGCGCAG 0.657 CSNK1D 1453 broad.mit.edu 37 17 80213441 80213441 + Missense_Mutation SNP G G A TCGA-06-6699-01A-11D-1845-08 TCGA-06-6699-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90ba858d-e3bb-40d8-98ee-eeb127c58409 d5b55d58-8b00-41db-8a67-414f0577fc59 g.chr17:80213441G>A uc002kej.3 - 2 537 c.200C>T c.(199-201)aCc>aTc p.T67I CSNK1D_uc002kei.3_Missense_Mutation_p.T67I|CSNK1D_uc010wvj.2_5'UTR|CSNK1D_uc002keh.3_5'Flank|CSNK1D_uc010dim.1_5'Flank NM_001893 NP_001884 P48730 KC1D_HUMAN Homo sapiens casein kinase 1, delta (CSNK1D), transcript variant 1, mRNA. 67 Protein kinase. circadian regulation of gene expression|DNA repair|G2/M transition of mitotic cell cycle|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|regulation of circadian rhythm|Wnt receptor signaling pathway centrosome|cytosol|nucleus ATP binding|protein binding|protein serine/threonine kinase activity breast(2)|large_intestine(2)|lung(7) 11 Breast(20;0.00136)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.227) OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0155) CCATCTGATGGTGGGGATGCC 0.572 ANKRD30B 374860 broad.mit.edu 37 18 14803789 14803789 + Silent SNP A A G TCGA-06-6699-01A-11D-1845-08 TCGA-06-6699-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90ba858d-e3bb-40d8-98ee-eeb127c58409 d5b55d58-8b00-41db-8a67-414f0577fc59 g.chr18:14803789A>G uc010dlo.2 + 23 2430 c.2250A>G c.(2248-2250)caA>caG p.Q750Q ANKRD30B_uc010xak.2_Non-coding_Transcript|ANKRD30B_uc021uhy.1_Silent_p.Q750Q NM_001145029 NP_001138501 Q9BXX2 AN30B_HUMAN Homo sapiens ankyrin repeat domain 30B (ANKRD30B), mRNA. 835 breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1) 22 CTACACATCAAAAAGAATTCG 0.323 RBBP8 5932 broad.mit.edu 37 18 20572852 20572853 + Frame_Shift_Ins INS - - A TCGA-06-6699-01A-11D-1845-08 TCGA-06-6699-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90ba858d-e3bb-40d8-98ee-eeb127c58409 d5b55d58-8b00-41db-8a67-414f0577fc59 g.chr18:20572852_20572853insA uc002kua.3 + 10 1185_1186 c.1062_1063insA c.(1060-1065)gggaaafs p.G354fs RBBP8_uc002ktw.3_Frame_Shift_Ins_p.G354fs|RBBP8_uc002kty.3_Frame_Shift_Ins_p.G354fs|RBBP8_uc002ktz.3_Frame_Shift_Ins_p.G354fs|RBBP8_uc002ktx.1_Frame_Shift_Ins_p.G354fs NM_203291 NP_976036 Q99708 COM1_HUMAN Homo sapiens retinoblastoma binding protein 8 (RBBP8), transcript variant 2, mRNA. 354 cell cycle checkpoint|DNA double-strand break processing involved in repair via single-strand annealing|meiosis|regulation of transcription from RNA polymerase II promoter nucleus damaged DNA binding|protein binding|single-stranded DNA specific endodeoxyribonuclease activity p.K355E(3)|p.G354G(3)|p.K357fs*3(2) central_nervous_system(1)|cervix(2)|endometrium(5)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1) 24 all_cancers(21;4.34e-05)|all_epithelial(16;8.3e-07)|Lung NSC(20;0.0107)|Colorectal(14;0.0202)|all_lung(20;0.0291)|Ovarian(20;0.19) OV - Ovarian serous cystadenocarcinoma(1;0.00196) TACAGCCTGGGAAAAAAAAACA 0.361 Homologous recombination PIGN 23556 broad.mit.edu 37 18 59757728 59757728 + Missense_Mutation SNP C C T TCGA-06-6699-01A-11D-1845-08 TCGA-06-6699-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90ba858d-e3bb-40d8-98ee-eeb127c58409 d5b55d58-8b00-41db-8a67-414f0577fc59 g.chr18:59757728C>T uc021ulb.1 - 20 2296 c.2264G>A c.(2263-2265)gGt>gAt p.G755D PIGN_uc021ulc.1_Missense_Mutation_p.G381D|PIGN_uc021uld.1_Missense_Mutation_p.G381D NM_176787 NP_789744 O95427 PIGN_HUMAN Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class N (PIGN), transcript variant 1, mRNA. 755 C-terminal protein lipidation|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|integral to membrane phosphotransferase activity, for other substituted phosphate groups breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 22 Colorectal(73;0.187) ACAGCAAACACCAGATTGTTG 0.343 KCNG2 26251 broad.mit.edu 37 18 77623839 77623839 + Missense_Mutation SNP G G A TCGA-06-6699-01A-11D-1845-08 TCGA-06-6699-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90ba858d-e3bb-40d8-98ee-eeb127c58409 d5b55d58-8b00-41db-8a67-414f0577fc59 g.chr18:77623839G>A uc010xfl.2 + 0 172 c.172G>A c.(172-174)Gtg>Atg p.V58M NM_012283 NP_036415 Q9UJ96 KCNG2_HUMAN Homo sapiens potassium voltage-gated channel, subfamily G, member 2 (KCNG2), mRNA. 58 energy reserve metabolic process|regulation of heart contraction|regulation of insulin secretion voltage-gated potassium channel complex delayed rectifier potassium channel activity breast(2)|endometrium(4)|lung(7)|skin(1)|upper_aerodigestive_tract(4) 18 Esophageal squamous(42;0.0157)|Melanoma(33;0.144) OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244) CCTGCTGCGCGTGTGTGACGA 0.741 C19orf35 374872 broad.mit.edu 37 19 2278816 2278816 + Missense_Mutation SNP C C A TCGA-06-6699-01A-11D-1845-08 TCGA-06-6699-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90ba858d-e3bb-40d8-98ee-eeb127c58409 d5b55d58-8b00-41db-8a67-414f0577fc59 g.chr19:2278816C>A uc002lvn.2 - 2 479 c.379G>T c.(379-381)Gat>Tat p.D127Y SPPL2B_uc010dsw.1_Intron NM_198532 NP_940934 Q6ZS72 CS035_HUMAN Homo sapiens chromosome 19 open reading frame 35 (C19orf35), mRNA. 127 large_intestine(1)|lung(5)|pancreas(1)|prostate(1) 8 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CTGTGCAGATCGCGGAGGGAG 0.692 CLEC4M 10332 broad.mit.edu 37 19 7833851 7833851 + Missense_Mutation SNP G G A TCGA-06-6699-01A-11D-1845-08 TCGA-06-6699-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90ba858d-e3bb-40d8-98ee-eeb127c58409 d5b55d58-8b00-41db-8a67-414f0577fc59 g.chr19:7833851G>A uc010dvt.3 + 6 1295 c.1177G>A c.(1177-1179)Gca>Aca p.A393T CLEC4M_uc002mih.3_Missense_Mutation_p.A370T|CLEC4M_uc010xjw.2_Missense_Mutation_p.A326T|CLEC4M_uc010dvs.3_Missense_Mutation_p.A369T|CLEC4M_uc010xjx.2_Missense_Mutation_p.A342T|CLEC4M_uc002mhz.3_3'UTR|CLEC4M_uc002mic.3_3'UTR|CLEC4M_uc002mia.3_Missense_Mutation_p.A257T NM_001144909 NP_001138381 Q9H2X3 CLC4M_HUMAN Homo sapiens C-type lectin domain family 4, member M (CLEC4M), transcript variant 9, mRNA. 393 cell-cell recognition|endocytosis|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor cytoplasm|extracellular region|integral to plasma membrane ICAM-3 receptor activity|mannose binding|metal ion binding|peptide antigen binding|virion binding p.P392L(1) breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(1) 26 CAAAAAGCCCGCAGCCTGCTT 0.498 FBN3 84467 broad.mit.edu 37 19 8148157 8148157 + Missense_Mutation SNP G G T TCGA-06-6699-01A-11D-1845-08 TCGA-06-6699-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90ba858d-e3bb-40d8-98ee-eeb127c58409 d5b55d58-8b00-41db-8a67-414f0577fc59 g.chr19:8148157G>T uc002mjf.3 - 55 7204 c.7187C>A c.(7186-7188)cCg>cAg p.P2396Q FBN3_uc002mje.3_Missense_Mutation_p.P235Q NM_032447 NP_115823 Q75N90 FBN3_HUMAN Homo sapiens fibrillin 3 (FBN3), mRNA. 2396 EGF-like 38; calcium-binding. proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 132 AGTAGCATCCGGTGTGTACCC 0.602 MUC16 94025 broad.mit.edu 37 19 9056233 9056233 + Missense_Mutation SNP C C T TCGA-06-6699-01A-11D-1845-08 TCGA-06-6699-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90ba858d-e3bb-40d8-98ee-eeb127c58409 d5b55d58-8b00-41db-8a67-414f0577fc59 g.chr19:9056233C>T uc002mkp.3 - 2 31417 c.31213G>A c.(31213-31215)Gtt>Att p.V10405I NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 10407 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 CCCAGCTCAACGCTCTCTGTC 0.483 OLFM2 93145 broad.mit.edu 37 19 9965148 9965148 + Missense_Mutation SNP G G A TCGA-06-6699-01A-11D-1845-08 TCGA-06-6699-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90ba858d-e3bb-40d8-98ee-eeb127c58409 d5b55d58-8b00-41db-8a67-414f0577fc59 g.chr19:9965148G>A uc002mmp.3 - 5 1107 c.1079C>T c.(1078-1080)tCc>tTc p.S360F NM_058164 NP_477512 O95897 NOE2_HUMAN Homo sapiens olfactomedin 2 (OLFM2), mRNA. 360 Olfactomedin-like. extracellular region breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2) 31 GGTGTCCCAGGACCGCATGAC 0.657 CYP4F11 57834 broad.mit.edu 37 19 16025652 16025652 + Missense_Mutation SNP C C T TCGA-06-6699-01A-11D-1845-08 TCGA-06-6699-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90ba858d-e3bb-40d8-98ee-eeb127c58409 d5b55d58-8b00-41db-8a67-414f0577fc59 g.chr19:16025652C>T uc002nbu.2 - 9 1205 c.1169G>A c.(1168-1170)cGg>cAg p.R390Q CYP4F11_uc010eab.1_Missense_Mutation_p.R390Q|CYP4F11_uc002nbt.2_Missense_Mutation_p.R390Q NM_001128932 NP_067010 Q9HBI6 CP4FB_HUMAN Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 11 (CYP4F11), transcript variant 2, mRNA. 390 inflammatory response|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome aromatase activity|electron carrier activity|heme binding NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3) 25 GGGATGCAACCGCAGGCTCTC 0.592 ZNF302 55900 broad.mit.edu 37 19 35175342 35175342 + Missense_Mutation SNP C C G TCGA-06-6699-01A-11D-1845-08 TCGA-06-6699-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90ba858d-e3bb-40d8-98ee-eeb127c58409 d5b55d58-8b00-41db-8a67-414f0577fc59 g.chr19:35175342C>G uc002nvr.1 + 5 795 c.532C>G c.(532-534)Ctt>Gtt p.L178V ZNF302_uc002nvp.1_Missense_Mutation_p.L134V|ZNF302_uc002nvq.1_Missense_Mutation_p.L134V|ZNF302_uc002nvs.1_Missense_Mutation_p.L134V NM_018443 NP_060913 Q9NR11 ZN302_HUMAN Homo sapiens zinc finger protein 302 (ZNF302), transcript variant 1, mRNA. 213 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding kidney(1)|large_intestine(2)|lung(2)|skin(1) 6 all_lung(56;6.16e-07)|Lung NSC(56;9.71e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0849) AAAGTCTACTCTTTCTGAACC 0.274 SHKBP1 92799 broad.mit.edu 37 19 41083170 41083170 + Silent SNP C C A TCGA-06-6699-01A-11D-1845-08 TCGA-06-6699-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90ba858d-e3bb-40d8-98ee-eeb127c58409 d5b55d58-8b00-41db-8a67-414f0577fc59 g.chr19:41083170C>A uc002oob.3 + 1 169 c.120C>A c.(118-120)atC>atA p.I40I SHKBP1_uc002ooc.3_Silent_p.I40I|SHKBP1_uc010xvl.1_5'UTR|SHKBP1_uc002ooe.3_5'UTR|SHKBP1_uc010xvm.2_5'Flank|SHKBP1_uc010xvn.2_5'Flank NM_138392 NP_612401 Q8TBC3 SHKB1_HUMAN Homo sapiens SH3KBP1 binding protein 1 (SHKBP1), mRNA. 40 BTB. voltage-gated potassium channel complex voltage-gated potassium channel activity breast(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(3)|urinary_tract(1) 29 Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384) TCACCTGGATCCCAGACTCCT 0.617 LILRB2 10288 broad.mit.edu 37 19 54782692 54782692 + Silent SNP G G A TCGA-06-6699-01A-11D-1845-08 TCGA-06-6699-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90ba858d-e3bb-40d8-98ee-eeb127c58409 d5b55d58-8b00-41db-8a67-414f0577fc59 g.chr19:54782692G>A uc002qfb.3 - 5 1196 c.930C>T c.(928-930)agC>agT p.S310S LILRB3_uc002qew.2_Intron|LILRB2_uc010eri.3_Silent_p.S310S|LILRB2_uc010erj.3_Non-coding_Transcript|LILRB2_uc002qfc.3_Silent_p.S310S|LILRB2_uc010yet.2_Silent_p.S194S|LILRB2_uc010yeu.1_Non-coding_Transcript NM_005874 NP_005865 Q8N423 LIRB2_HUMAN Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2 (LILRB2), transcript variant 1, mRNA. 310 Ig-like C2-type 3. cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response integral to plasma membrane|membrane fraction receptor activity breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 44 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) CCAGGGGGTCGCTGGGGGCCG 0.642 SBK2 646643 broad.mit.edu 37 19 56047476 56047476 + Silent SNP G G A TCGA-06-6699-01A-11D-1845-08 TCGA-06-6699-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90ba858d-e3bb-40d8-98ee-eeb127c58409 d5b55d58-8b00-41db-8a67-414f0577fc59 g.chr19:56047476G>A uc010ygc.2 - 1 201 c.186C>T c.(184-186)taC>taT p.Y62Y NM_001101401 NP_001094871 P0C263 SBK2_HUMAN Homo sapiens SH3-binding domain kinase family, member 2 (SBK2), mRNA. 62 Protein kinase. ATP binding|protein serine/threonine kinase activity endometrium(1)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 9 GCACTTCCTCGTAGAGCTCGT 0.652 IHH 3549 broad.mit.edu 37 2 219920384 219920384 + Missense_Mutation SNP C C T TCGA-06-6699-01A-11D-1845-08 TCGA-06-6699-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90ba858d-e3bb-40d8-98ee-eeb127c58409 d5b55d58-8b00-41db-8a67-414f0577fc59 g.chr2:219920384C>T uc002vjo.2 - 2 830 c.781G>A c.(781-783)Gag>Aag p.E261K NM_002181 NP_002172 Q14623 IHH_HUMAN Homo sapiens Indian hedgehog (IHH), mRNA. 261 cell-cell signaling|intein-mediated protein splicing|proteolysis extracellular space|plasma membrane cholesterol binding|patched binding|peptidase activity breast(1)|endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1) 14 Renal(207;0.0915) Epithelial(149;1.13e-06)|all cancers(144;0.000188)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) TCCTGAGTCTCGATGACCTGG 0.647 ADAM33 80332 broad.mit.edu 37 20 3655285 3655285 + Missense_Mutation SNP G G A TCGA-06-6699-01A-11D-1845-08 TCGA-06-6699-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90ba858d-e3bb-40d8-98ee-eeb127c58409 d5b55d58-8b00-41db-8a67-414f0577fc59 g.chr20:3655285G>A uc002wit.3 - 5 553 c.466C>T c.(466-468)Cgg>Tgg p.R156W ADAM33_uc002wir.1_Missense_Mutation_p.R156W|ADAM33_uc002wis.3_5'Flank|ADAM33_uc002wiu.3_Missense_Mutation_p.R156W|ADAM33_uc002wiw.1_Intron|ADAM33_uc010gba.1_Intron|ADAM33_uc010gbb.1_Intron|ADAM33_uc002wix.1_Intron|ADAM33_uc010zqg.1_Missense_Mutation_p.R168W|ADAM33_uc010zqh.1_Missense_Mutation_p.R156W NM_025220 NP_079496 Q9BZ11 ADA33_HUMAN Homo sapiens ADAM metallopeptidase domain 33 (ADAM33), transcript variant 1, mRNA. 156 proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding p.P155P(1) haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|skin(3) 29 TTGGAGCCCCGGGGTGGCCAG 0.607 CHGB 1114 broad.mit.edu 37 20 5904558 5904558 + Missense_Mutation SNP G G A rs148235020 TCGA-06-6699-01A-11D-1845-08 TCGA-06-6699-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90ba858d-e3bb-40d8-98ee-eeb127c58409 d5b55d58-8b00-41db-8a67-414f0577fc59 g.chr20:5904558G>A uc002wmg.3 + 3 2074 c.1768G>A c.(1768-1770)Gcc>Acc p.A590T CHGB_uc010zqz.2_Missense_Mutation_p.A273T NM_001819 NP_001810 P05060 SCG1_HUMAN Homo sapiens chromogranin B (secretogranin 1) (CHGB), mRNA. 590 extracellular region hormone activity breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1) 47 GAGAAACCTCGCCAGGGTCCC 0.498 PAK7 57144 broad.mit.edu 37 20 9543605 9543605 + Missense_Mutation SNP C C T TCGA-06-6699-01A-11D-1845-08 TCGA-06-6699-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90ba858d-e3bb-40d8-98ee-eeb127c58409 d5b55d58-8b00-41db-8a67-414f0577fc59 g.chr20:9543605C>T uc002wnl.2 - 6 2094 c.1549G>A c.(1549-1551)Gat>Aat p.D517N PAK7_uc002wnk.2_Missense_Mutation_p.D517N|PAK7_uc002wnj.2_Missense_Mutation_p.D517N|PAK7_uc010gby.1_Missense_Mutation_p.D517N NM_020341 NP_817127 Q9P286 PAK7_HUMAN Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 7 (PAK7), transcript variant 1, mRNA. 517 Protein kinase. ATP binding|protein binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3) 81 COAD - Colon adenocarcinoma(9;0.194) CAGAGCTCATCGCCGACAAGG 0.478 COL20A1 57642 broad.mit.edu 37 20 61959711 61959711 + Silent SNP C C T TCGA-06-6699-01A-11D-1845-08 TCGA-06-6699-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90ba858d-e3bb-40d8-98ee-eeb127c58409 d5b55d58-8b00-41db-8a67-414f0577fc59 g.chr20:61959711C>T uc011aau.2 + 33 3742 c.3642C>T c.(3640-3642)caC>caT p.H1214H COL20A1_uc011aav.2_Silent_p.H1041H NM_020882 NP_065933 Q9P218 COKA1_HUMAN Homo sapiens collagen, type XX, alpha 1 (COL20A1), mRNA. 1214 cell adhesion collagen|extracellular space structural molecule activity NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2) 36 all_cancers(38;1.39e-10) ACTCCTTCCACGAGAACACCA 0.672 CLDN14 23562 broad.mit.edu 37 21 37833779 37833779 + Missense_Mutation SNP G G A TCGA-06-6699-01A-11D-1845-08 TCGA-06-6699-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90ba858d-e3bb-40d8-98ee-eeb127c58409 d5b55d58-8b00-41db-8a67-414f0577fc59 g.chr21:37833779G>A uc021wja.1 - 0 215 c.215C>T c.(214-216)gCg>gTg p.A72V CLDN14_uc002yvn.1_Missense_Mutation_p.A72V|CLDN14_uc002yvo.1_Missense_Mutation_p.A72V|CLDN14_uc002yvk.1_Missense_Mutation_p.A72V|CLDN14_uc002yvl.1_Missense_Mutation_p.A72V|CLDN14_uc002yvm.1_Missense_Mutation_p.A72V NM_144492 NP_652763 O95500 CLD14_HUMAN Homo sapiens claudin 14 (CLDN14), transcript variant 1, mRNA. 72 calcium-independent cell-cell adhesion|protein complex assembly|tight junction assembly endoplasmic reticulum|integral to membrane|tight junction identical protein binding|structural molecule activity endometrium(1)|lung(5)|skin(1) 7 TTGGGGCAGCGCCAGCAGGGA 0.632 YWHAH 7533 broad.mit.edu 37 22 32352631 32352631 + Missense_Mutation SNP A A G TCGA-06-6699-01A-11D-1845-08 TCGA-06-6699-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90ba858d-e3bb-40d8-98ee-eeb127c58409 d5b55d58-8b00-41db-8a67-414f0577fc59 g.chr22:32352631A>G uc003alz.3 + 1 834 c.593A>G c.(592-594)aAa>aGa p.K198R YWHAH_uc003ama.3_Missense_Mutation_p.K128R|YWHAH_uc010gwm.3_Missense_Mutation_p.K185R NM_003405 NP_003396 Q04917 1433F_HUMAN Homo sapiens tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, eta polypeptide (YWHAH), mRNA. 198 glucocorticoid catabolic process|glucocorticoid receptor signaling pathway|intracellular protein transport|negative regulation of dendrite morphogenesis|positive regulation of transcription, DNA-dependent|regulation of synaptic plasticity cytoplasm enzyme binding|glucocorticoid receptor binding|insulin-like growth factor receptor binding|protein domain specific binding breast(1)|central_nervous_system(1)|large_intestine(1)|upper_aerodigestive_tract(1) 4 CTCTTAGCCAAACAAGCCTTC 0.537 PCYT1A 5130 broad.mit.edu 37 3 195965686 195965686 + Missense_Mutation SNP C C T TCGA-06-6699-01A-11D-1845-08 TCGA-06-6699-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90ba858d-e3bb-40d8-98ee-eeb127c58409 d5b55d58-8b00-41db-8a67-414f0577fc59 g.chr3:195965686C>T uc003fwg.3 - 9 1150 c.977G>A c.(976-978)cGc>cAc p.R326H AF088041_uc003fwf.1_5'Flank|PCYT1A_uc003fwh.3_Missense_Mutation_p.R326H NM_005017 NP_005008 P49585 PCY1A_HUMAN Homo sapiens phosphate cytidylyltransferase 1, choline, alpha (PCYT1A), mRNA. 326 3 X repeats. cytosol|soluble fraction choline-phosphate cytidylyltransferase activity cervix(1)|endometrium(3)|large_intestine(8)|lung(5)|ovary(1) 18 all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Epithelial(36;1.28e-24)|all cancers(36;1.01e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00259) Choline(DB00122) GGAGCGCTCGCGAGTAGGGCT 0.607 TLR10 81793 broad.mit.edu 37 4 38777038 38777038 + Missense_Mutation SNP G G T TCGA-06-6699-01A-11D-1845-08 TCGA-06-6699-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90ba858d-e3bb-40d8-98ee-eeb127c58409 d5b55d58-8b00-41db-8a67-414f0577fc59 g.chr4:38777038G>T uc003gtj.3 - 3 812 c.174C>A c.(172-174)aaC>aaA p.N58K TLR10_uc021xnk.1_Missense_Mutation_p.N44K|TLR10_uc003gti.3_Missense_Mutation_p.N58K|TLR10_uc021xnl.1_Missense_Mutation_p.N58K|TLR10_uc003gtk.3_Missense_Mutation_p.N58K|TLR10_uc021xnm.1_Missense_Mutation_p.N58K NM_030956 NP_001182037 Q9BXR5 TLR10_HUMAN Homo sapiens toll-like receptor 10 (TLR10), transcript variant 1, mRNA. 58 inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway integral to membrane|plasma membrane transmembrane receptor activity breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(2) 25 GAAAAAGGAGGTTATAGGATA 0.428 PDS5A 23244 broad.mit.edu 37 4 39839671 39839671 + Missense_Mutation SNP C C T TCGA-06-6699-01A-11D-1845-08 TCGA-06-6699-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90ba858d-e3bb-40d8-98ee-eeb127c58409 d5b55d58-8b00-41db-8a67-414f0577fc59 g.chr4:39839671C>T uc003guv.4 - 31 4355 c.3815G>A c.(3814-3816)cGt>cAt p.R1272H NM_001100399 NP_001093869 Q29RF7 PDS5A_HUMAN Homo sapiens PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae) (PDS5A), transcript variant 1, mRNA. 1272 cell division|mitosis|negative regulation of DNA replication chromatin|nucleus identical protein binding breast(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(14)|prostate(3)|skin(1)|urinary_tract(1) 39 CTTGGGTCGACGTCCTCTCCT 0.473 DCHS2 54798 broad.mit.edu 37 4 155157533 155157533 + Silent SNP G G A TCGA-06-6699-01A-11D-1845-08 TCGA-06-6699-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90ba858d-e3bb-40d8-98ee-eeb127c58409 d5b55d58-8b00-41db-8a67-414f0577fc59 g.chr4:155157533G>A uc003inw.2 - 24 6906 c.6906C>T c.(6904-6906)gtC>gtT p.V2302V NM_017639 NP_060109 Q6V1P9 PCD23_HUMAN Homo sapiens dachsous 2 (Drosophila) (DCHS2), transcript variant 1, mRNA. 2302 Cadherin 20. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 176 all_hematologic(180;0.208) Renal(120;0.0854) LUSC - Lung squamous cell carcinoma(193;0.107) CCAGGACACTGACAAACACAA 0.373 ANP32C 23520 broad.mit.edu 37 4 165118560 165118560 + Missense_Mutation SNP T T C TCGA-06-6699-01A-11D-1845-08 TCGA-06-6699-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90ba858d-e3bb-40d8-98ee-eeb127c58409 d5b55d58-8b00-41db-8a67-414f0577fc59 g.chr4:165118560T>C uc011cjk.2 - 0 304 c.304A>G c.(304-306)Ata>Gta p.I102V MARCH1_uc003iqs.2_Intron NM_012403 NP_036535 O43423 AN32C_HUMAN Homo sapiens acidic (leucine-rich) nuclear phosphoprotein 32 family, member C (ANP32C), mRNA. 102 NS(2)|breast(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(3)|skin(4) 35 all_hematologic(180;0.203) Prostate(90;0.0138)|Melanoma(52;0.18)|all_neural(102;0.223) KIRC - Kidney renal clear cell carcinoma(143;0.242) AGTGGCTCTATTGTGCTGAGG 0.428 PLEKHG4B 153478 broad.mit.edu 37 5 162950 162950 + Silent SNP C C T TCGA-06-6699-01A-11D-1845-08 TCGA-06-6699-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90ba858d-e3bb-40d8-98ee-eeb127c58409 d5b55d58-8b00-41db-8a67-414f0577fc59 g.chr5:162950C>T uc003jak.2 + 10 1745 c.1695C>T c.(1693-1695)ccC>ccT p.P565P NM_052909 NP_443141 Q96PX9 PKH4B_HUMAN Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 4B (PLEKHG4B), mRNA. 565 regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3) 11 all cancers(22;0.0253)|Lung(60;0.113) Kidney(1;0.119) AGGCCTTCCCCGGGGCAGGTG 0.667 KLHL3 26249 broad.mit.edu 37 5 137045486 137045486 + Missense_Mutation SNP C C T TCGA-06-6699-01A-11D-1845-08 TCGA-06-6699-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90ba858d-e3bb-40d8-98ee-eeb127c58409 d5b55d58-8b00-41db-8a67-414f0577fc59 g.chr5:137045486C>T uc010jek.3 - 2 638 c.194G>A c.(193-195)cGt>cAt p.R65H MYOT_uc011cye.2_Intron|KLHL3_uc010jem.1_Missense_Mutation_p.R25H NM_017415 NP_059111 Q9UH77 KLHL3_HUMAN Homo sapiens kelch-like 3 (Drosophila) (KLHL3), mRNA. 65 BTB. cytoplasm|cytoskeleton actin binding|structural molecule activity p.R65H(2) breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|stomach(1)|upper_aerodigestive_tract(1) 21 all_hematologic(541;3.67e-07)|Breast(839;7.61e-05)|Prostate(281;0.000825)|Ovarian(839;0.0481)|all_lung(232;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) GBM - Glioblastoma multiforme(465;0.0223) CAGGACCACACGGTGGGCTTC 0.547 PCDHAC2 56144 broad.mit.edu 37 5 140188686 140188686 + Silent SNP C C T TCGA-06-6699-01A-11D-1845-08 TCGA-06-6699-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90ba858d-e3bb-40d8-98ee-eeb127c58409 d5b55d58-8b00-41db-8a67-414f0577fc59 g.chr5:140188686C>T uc003lhi.2 + 0 2015 c.1914C>T c.(1912-1914)gaC>gaT p.D638D PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Silent_p.D638D|PCDHAC2_uc011daa.2_Silent_p.D638D NM_018907 NP_061730 Q9Y5I4 PCDC2_HUMAN Homo sapiens protocadherin alpha 4 (PCDHA4), transcript variant 1, mRNA. 649 Cadherin 6. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 45 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GTGCCCTGGACGAAACGGACG 0.677 PCDHGC5 56111 broad.mit.edu 37 5 140736994 140736994 + Missense_Mutation SNP G G A TCGA-06-6699-01A-11D-1845-08 TCGA-06-6699-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90ba858d-e3bb-40d8-98ee-eeb127c58409 d5b55d58-8b00-41db-8a67-414f0577fc59 g.chr5:140736994G>A uc003ljq.2 + 0 2227 c.2227G>A c.(2227-2229)Gtg>Atg p.V743M PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljs.2_5'Flank|PCDHGC5_uc003ljp.1_Missense_Mutation_p.V743M|PCDHGC5_uc011dar.2_5'Flank NM_018917 NP_061740 Q9Y5F6 PCDGM_HUMAN Homo sapiens protocadherin gamma subfamily A, 4 (PCDHGA4), transcript variant 1, mRNA. 753 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2) 35 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTTTGTGGGCGTGGACGGGGT 0.617 SYNGAP1 8831 broad.mit.edu 37 6 33405652 33405652 + Missense_Mutation SNP C C T TCGA-06-6699-01A-11D-1845-08 TCGA-06-6699-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90ba858d-e3bb-40d8-98ee-eeb127c58409 d5b55d58-8b00-41db-8a67-414f0577fc59 g.chr6:33405652C>T uc011dri.2 + 7 1165 c.970C>T c.(970-972)Cgg>Tgg p.R324W SYNGAP1_uc003oeo.1_Missense_Mutation_p.R309W|SYNGAP1_uc010juy.3_Missense_Mutation_p.R309W|SYNGAP1_uc010juz.3_Missense_Mutation_p.R36W NM_006772 NP_006763 Q96PV0 SYGP1_HUMAN Homo sapiens synaptic Ras GTPase activating protein 1 (SYNGAP1), mRNA. 324 C2. negative regulation of Ras protein signal transduction|signal transduction cytoplasm|intrinsic to internal side of plasma membrane Ras GTPase activator activity|SH3 domain binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1) 43 CCGTGCCCTGCGGCTGCATCT 0.627 ABCC10 89845 broad.mit.edu 37 6 43403588 43403588 + Missense_Mutation SNP C C T TCGA-06-6699-01A-11D-1845-08 TCGA-06-6699-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90ba858d-e3bb-40d8-98ee-eeb127c58409 d5b55d58-8b00-41db-8a67-414f0577fc59 g.chr6:43403588C>T uc003ouy.1 + 4 1923 c.1708C>T c.(1708-1710)Cgg>Tgg p.R570W ABCC10_uc003ouz.1_Missense_Mutation_p.R527W|ABCC10_uc010jyo.1_5'UTR NM_001198934 NP_001185863 Q5T3U5 MRP7_HUMAN Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 10 (ABCC10), transcript variant MRP7, mRNA. 570 integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 56 all_lung(25;0.00536) Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804) GTCCTTGGACCGGATCCAGCT 0.567 TFAP2D 83741 broad.mit.edu 37 6 50696975 50696975 + Missense_Mutation SNP C C T TCGA-06-6699-01A-11D-1845-08 TCGA-06-6699-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90ba858d-e3bb-40d8-98ee-eeb127c58409 d5b55d58-8b00-41db-8a67-414f0577fc59 g.chr6:50696975C>T uc003paf.3 + 4 1345 c.833C>T c.(832-834)gCa>gTa p.A278V TFAP2D_uc011dwt.2_Non-coding_Transcript NM_172238 NP_758438 Q7Z6R9 AP2D_HUMAN Homo sapiens transcription factor AP-2 delta (activating enhancer binding protein 2 delta) (TFAP2D), mRNA. 278 DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1) 60 Lung NSC(77;0.0334) AACTTACCAGCAGGAAGACGG 0.423 SIM1 6492 broad.mit.edu 37 6 100901684 100901684 + Missense_Mutation SNP C C T TCGA-06-6699-01A-11D-1845-08 TCGA-06-6699-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90ba858d-e3bb-40d8-98ee-eeb127c58409 d5b55d58-8b00-41db-8a67-414f0577fc59 g.chr6:100901684C>T uc003pqj.4 - 1 679 c.212G>A c.(211-213)aGc>aAc p.S71N SIM1_uc021zdg.1_Missense_Mutation_p.S71N|SIM1_uc010kcu.3_Missense_Mutation_p.S71N NM_005068 NP_005059 P81133 SIM1_HUMAN Homo sapiens single-minded homolog 1 (Drosophila) (SIM1), mRNA. 71 cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5) 79 all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13) BRCA - Breast invasive adenocarcinoma(108;0.0774) GTCCAGGGGGCTGGTCCGACT 0.612 ZBTB24 9841 broad.mit.edu 37 6 109787239 109787239 + Missense_Mutation SNP C C T TCGA-06-6699-01A-11D-1845-08 TCGA-06-6699-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90ba858d-e3bb-40d8-98ee-eeb127c58409 d5b55d58-8b00-41db-8a67-414f0577fc59 g.chr6:109787239C>T uc003ptl.1 - 6 2077 c.1909G>A c.(1909-1911)Gtg>Atg p.V637M MICAL1_uc011eaq.2_5'Flank|ZBTB24_uc011ear.1_Non-coding_Transcript|ZBTB24_uc010kds.1_Missense_Mutation_p.V581M|ZBTB24_uc010kdt.1_Non-coding_Transcript NM_014797 NP_055612 O43167 ZBT24_HUMAN Homo sapiens zinc finger and BTB domain containing 24 (ZBTB24), transcript variant 1, mRNA. 637 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding p.V637M(2) breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1) 22 all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149) Epithelial(106;0.0154)|all cancers(137;0.0216)|OV - Ovarian serous cystadenocarcinoma(136;0.0242)|BRCA - Breast invasive adenocarcinoma(108;0.059) AGAGTGATCACGTGCACTGGC 0.458 PARK2 5071 broad.mit.edu 37 6 161771139 161771139 + Missense_Mutation SNP C C T TCGA-06-6699-01A-11D-1845-08 TCGA-06-6699-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90ba858d-e3bb-40d8-98ee-eeb127c58409 d5b55d58-8b00-41db-8a67-414f0577fc59 g.chr6:161771139C>T uc021zhu.1 - 12 1622 c.1531G>A c.(1531-1533)Gac>Aac p.D511N PARK2_uc003qtv.4_Non-coding_Transcript|PARK2_uc003qtw.4_3'UTR|PARK2_uc010kkd.3_Missense_Mutation_p.D273N|PARK2_uc003qtx.4_Missense_Mutation_p.D464N|PARK2_uc021zhs.1_Missense_Mutation_p.D386N|PARK2_uc021zht.1_Non-coding_Transcript|PARK2_uc003qty.4_Missense_Mutation_p.D436N|PARK2_uc003qtz.4_Missense_Mutation_p.D315N|PARK2_uc021zhv.1_Missense_Mutation_p.D385N|PARK2_uc021zhw.1_Missense_Mutation_p.D273N|PARK2_uc021zhx.1_Non-coding_Transcript|PARK2_uc021zhy.1_Missense_Mutation_p.D414N|PARK2_uc011egf.2_Missense_Mutation_p.D138N NM_004562 NP_004553 O60260 PRKN2_HUMAN Homo sapiens parkinson protein 2, E3 ubiquitin protein ligase (parkin) (PARK2), transcript variant 1, mRNA. 464 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 breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 39 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) GGCTACACGTCGAACCAGTGG 0.592 PMS2 5395 broad.mit.edu 37 7 6027045 6027045 + Missense_Mutation SNP T T C TCGA-06-6699-01A-11D-1845-08 TCGA-06-6699-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90ba858d-e3bb-40d8-98ee-eeb127c58409 d5b55d58-8b00-41db-8a67-414f0577fc59 g.chr7:6027045T>C uc003spl.3 - 10 1438 c.1351A>G c.(1351-1353)Agg>Ggg p.R451G PMS2_uc003spj.3_Missense_Mutation_p.R345G|PMS2_uc003spk.3_Missense_Mutation_p.R316G|PMS2_uc011jwl.2_Missense_Mutation_p.R316G|PMS2_uc010ktg.3_Missense_Mutation_p.R140G|PMS2_uc010kte.3_Intron|PMS2_uc010ktf.2_Missense_Mutation_p.R451G NM_000535 NP_000526 P54278 PMS2_HUMAN Homo sapiens PMS2 postmeiotic segregation increased 2 (S. cerevisiae) (PMS2), transcript variant 1, mRNA. 451 mismatch repair|reciprocal meiotic recombination|somatic hypermutation of immunoglobulin genes MutLalpha complex ATP binding|ATPase activity|endonuclease activity|protein binding|single base insertion or deletion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(11)|lung(13)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 46 Ovarian(82;0.0694) UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15) AGCATACCCCTTTTCTGTCCT 0.532 """Mis, N, F""" """colorectal, endometrial, ovarian, medulloblastoma, glioma""" Direct reversal of damage;Mismatch excision repair (MMR) Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome MLXIPL 51085 broad.mit.edu 37 7 73010591 73010591 + Silent SNP C C A TCGA-06-6699-01A-11D-1845-08 TCGA-06-6699-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90ba858d-e3bb-40d8-98ee-eeb127c58409 d5b55d58-8b00-41db-8a67-414f0577fc59 g.chr7:73010591C>A uc003tyn.1 - 12 1998 c.1950G>T c.(1948-1950)cgG>cgT p.R650R MLXIPL_uc003tyj.1_Silent_p.R29R|MLXIPL_uc003tyk.1_Silent_p.R648R|MLXIPL_uc003tym.1_Silent_p.R650R|MLXIPL_uc003tyl.1_Silent_p.R648R|MLXIPL_uc003tyo.1_Non-coding_Transcript|MLXIPL_uc003typ.1_Silent_p.R556R NM_032951 NP_116569 Q9NP71 WBS14_HUMAN Homo sapiens MLX interacting protein-like (MLXIPL), transcript variant 1, mRNA. 650 anatomical structure morphogenesis|energy reserve metabolic process|glucose mediated signaling pathway|intracellular protein kinase cascade|negative regulation of cell cycle arrest|negative regulation of oxidative phosphorylation|negative regulation of peptidyl-serine phosphorylation|positive regulation of cell proliferation|positive regulation of fatty acid biosynthetic process|positive regulation of glycolysis|positive regulation of transcription from RNA polymerase II promoter|triglyceride homeostasis cytosol|transcription factor complex carbohydrate response element binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding cervix(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 13 Lung NSC(55;0.0659)|all_lung(88;0.152) GTGTGATACGCCGGTTCTCGG 0.627 PCLO 27445 broad.mit.edu 37 7 82595385 82595385 + Frame_Shift_Del DEL T T - TCGA-06-6699-01A-11D-1845-08 TCGA-06-6699-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90ba858d-e3bb-40d8-98ee-eeb127c58409 d5b55d58-8b00-41db-8a67-414f0577fc59 g.chr7:82595385delT uc003uhx.2 - 3 4008 c.3719delA c.(3718-3720)aagfs p.K1240fs PCLO_uc003uhv.2_Frame_Shift_Del_p.K1240fs NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA. 1179 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 AGGGGTTGGCTTTTTTTCTTC 0.383 SEMA3E 9723 broad.mit.edu 37 7 83047753 83047753 + Missense_Mutation SNP C C T TCGA-06-6699-01A-11D-1845-08 TCGA-06-6699-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90ba858d-e3bb-40d8-98ee-eeb127c58409 d5b55d58-8b00-41db-8a67-414f0577fc59 g.chr7:83047753C>T uc003uhy.2 - 4 1124 c.503G>A c.(502-504)gGc>gAc p.G168D SEMA3E_uc022agy.1_Missense_Mutation_p.G108D NM_012431 NP_001171600 O15041 SEM3E_HUMAN Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E (SEMA3E), transcript variant 1, mRNA. 168 Sema. axon guidance extracellular space|membrane receptor activity breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3) 51 Medulloblastoma(109;0.109) AGGACATCTGCCCCTTCCTCT 0.403 SLC26A5 375611 broad.mit.edu 37 7 103032068 103032068 + Splice_Site SNP C C T TCGA-06-6699-01A-11D-1845-08 TCGA-06-6699-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90ba858d-e3bb-40d8-98ee-eeb127c58409 d5b55d58-8b00-41db-8a67-414f0577fc59 g.chr7:103032068C>T uc003vbz.3 - 11 1495 c.1233_splice c.e11+1 p.Q411_splice SLC26A5_uc003vbt.2_Splice_Site_p.Q411_splice|SLC26A5_uc003vbu.2_Splice_Site_p.Q411_splice|SLC26A5_uc003vbv.2_Intron|SLC26A5_uc003vbw.3_Splice_Site|SLC26A5_uc003vby.3_Splice_Site|SLC26A5_uc010liy.3_Splice_Site|SLC26A5_uc003vbx.3_Splice_Site_p.Q411_splice NM_198999 NP_945350 P58743 S26A5_HUMAN Homo sapiens solute carrier family 26, member 5 (prestin) (SLC26A5), transcript variant a, mRNA. 411 regulation of cell shape|sensory perception of sound integral to membrane secondary active sulfate transmembrane transporter activity endometrium(5)|kidney(2)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5) 43 TATGTACATACCTGTGTCTTC 0.438 C7orf66 154907 broad.mit.edu 37 7 108524200 108524200 + Missense_Mutation SNP C C T TCGA-06-6699-01A-11D-1845-08 TCGA-06-6699-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90ba858d-e3bb-40d8-98ee-eeb127c58409 d5b55d58-8b00-41db-8a67-414f0577fc59 g.chr7:108524200C>T uc003vfo.3 - 1 260 c.212G>A c.(211-213)cGt>cAt p.R71H NM_001024607 NP_001019778 A4D0T2 CG066_HUMAN Homo sapiens chromosome 7 open reading frame 66 (C7orf66), mRNA. 71 integral to membrane breast(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2) 15 CATCATGTGACGATATTGAGC 0.418 LMBR1 64327 broad.mit.edu 37 7 156518202 156518202 + Missense_Mutation SNP G G T TCGA-06-6699-01A-11D-1845-08 TCGA-06-6699-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90ba858d-e3bb-40d8-98ee-eeb127c58409 d5b55d58-8b00-41db-8a67-414f0577fc59 g.chr7:156518202G>T uc010lqn.3 - 14 1423 c.1208C>A c.(1207-1209)tCt>tAt p.S403Y LMBR1_uc003wmv.4_Missense_Mutation_p.S210Y|LMBR1_uc003wmw.4_Missense_Mutation_p.S362Y|LMBR1_uc003wmx.4_Missense_Mutation_p.S210Y|LMBR1_uc011kvx.2_Missense_Mutation_p.S341Y NM_022458 NP_071903 Q8WVP7 LMBR1_HUMAN Homo sapiens limb region 1 homolog (mouse) (LMBR1), mRNA. 362 integral to membrane receptor activity breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|skin(1) 18 Ovarian(565;0.218) all_hematologic(28;0.0592) OV - Ovarian serous cystadenocarcinoma(82;0.00231) UCEC - Uterine corpus endometrioid carcinoma (81;0.208) GCCGACAACAGAGGACACCAT 0.413 PTPRN2 5799 broad.mit.edu 37 7 157475460 157475460 + Missense_Mutation SNP C C T TCGA-06-6699-01A-11D-1845-08 TCGA-06-6699-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90ba858d-e3bb-40d8-98ee-eeb127c58409 d5b55d58-8b00-41db-8a67-414f0577fc59 g.chr7:157475460C>T uc003wno.3 - 12 2079 c.1958G>A c.(1957-1959)gGa>gAa p.G653E PTPRN2_uc003wnp.3_Missense_Mutation_p.G636E|PTPRN2_uc003wnq.3_Missense_Mutation_p.G624E|PTPRN2_uc003wnr.3_Missense_Mutation_p.G615E|PTPRN2_uc011kwa.2_Missense_Mutation_p.G676E NM_002847 NP_002838 Q92932 PTPR2_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, N polypeptide 2 (PTPRN2), transcript variant 1, mRNA. 653 integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1) 86 all_neural(206;0.181) all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132) OV - Ovarian serous cystadenocarcinoma(82;0.00463) STAD - Stomach adenocarcinoma(7;0.0875) GCCCCCTAGTCCCGAGAGCTT 0.567 PRSS55 203074 broad.mit.edu 37 8 10396129 10396129 + Silent SNP C C T TCGA-06-6699-01A-11D-1845-08 TCGA-06-6699-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90ba858d-e3bb-40d8-98ee-eeb127c58409 d5b55d58-8b00-41db-8a67-414f0577fc59 g.chr8:10396129C>T uc003wta.3 + 4 925 c.885C>T c.(883-885)atC>atT p.I295I AK307207_uc010lru.3_Intron|PRSS55_uc022art.1_Intron|PRSS55_uc003wtb.3_Intron NM_198464 NP_940866 Q6UWB4 PRS55_HUMAN Homo sapiens protease, serine, 55 (PRSS55), transcript variant 1, mRNA. 295 Peptidase S1. proteolysis integral to membrane serine-type endopeptidase activity p.I295I(2) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1) 31 ACCTCTGGATCGAGAAAGTGA 0.532 CPA6 57094 broad.mit.edu 37 8 68396059 68396059 + Missense_Mutation SNP G G A TCGA-06-6699-01A-11D-1845-08 TCGA-06-6699-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90ba858d-e3bb-40d8-98ee-eeb127c58409 d5b55d58-8b00-41db-8a67-414f0577fc59 g.chr8:68396059G>A uc003xxq.4 - 7 1038 c.782C>T c.(781-783)tCa>tTa p.S261L CPA6_uc003xxr.4_Missense_Mutation_p.S113L|CPA6_uc003xxs.2_Missense_Mutation_p.S261L NM_020361 NP_065094 Q8N4T0 CBPA6_HUMAN Homo sapiens carboxypeptidase A6 (CPA6), mRNA. 261 proteolysis proteinaceous extracellular matrix metallocarboxypeptidase activity|zinc ion binding NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(5) 26 Epithelial(68;0.04)|OV - Ovarian serous cystadenocarcinoma(28;0.0593)|all cancers(69;0.136) GCGAAACCTTGAGTTCCTTGA 0.408 FER1L6 654463 broad.mit.edu 37 8 125131850 125131850 + Missense_Mutation SNP G G A TCGA-06-6699-01A-11D-1845-08 TCGA-06-6699-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90ba858d-e3bb-40d8-98ee-eeb127c58409 d5b55d58-8b00-41db-8a67-414f0577fc59 g.chr8:125131850G>A uc003yqw.3 + 40 5599 c.5393G>A c.(5392-5394)cGc>cAc p.R1798H AK057332_uc003yqy.1_Intron NM_001039112 NP_001034201 Q2WGJ9 FR1L6_HUMAN Homo sapiens fer-1-like 6 (C. elegans) (FER1L6), mRNA. 1798 integral to membrane NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1) 118 Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741) STAD - Stomach adenocarcinoma(47;0.00186) CCCCTCAGCCGCCCAGACACC 0.473 TG 7038 broad.mit.edu 37 8 133879248 133879248 + Missense_Mutation SNP G G A TCGA-06-6699-01A-11D-1845-08 TCGA-06-6699-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90ba858d-e3bb-40d8-98ee-eeb127c58409 d5b55d58-8b00-41db-8a67-414f0577fc59 g.chr8:133879248G>A uc003ytw.3 + 0 44 c.3G>A c.(1-3)atG>atA p.M1I NM_003235 NP_003226 P01266 THYG_HUMAN Homo sapiens thyroglobulin (TG), mRNA. 1 hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation extracellular space hormone activity NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8) 168 Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735) BRCA - Breast invasive adenocarcinoma(115;0.000701) KIRC - Kidney renal clear cell carcinoma(542;0.0546) CCAGGAAAATGGCCCTGGTCC 0.592 PTPDC1 138639 broad.mit.edu 37 9 96860365 96860365 + Missense_Mutation SNP C C A TCGA-06-6699-01A-11D-1845-08 TCGA-06-6699-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90ba858d-e3bb-40d8-98ee-eeb127c58409 d5b55d58-8b00-41db-8a67-414f0577fc59 g.chr9:96860365C>A uc010mrj.2 + 5 1619 c.1517C>A c.(1516-1518)aCa>aAa p.T506K PTPDC1_uc004auf.2_Missense_Mutation_p.T452K|PTPDC1_uc004aug.2_Missense_Mutation_p.T452K|PTPDC1_uc004auh.2_Missense_Mutation_p.T504K|PTPDC1_uc010mri.2_Missense_Mutation_p.T504K NM_001253829 NP_001240758 A2A3K4 PTPC1_HUMAN Homo sapiens protein tyrosine phosphatase domain containing 1 (PTPDC1), transcript variant 3, mRNA. 452 protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 32 GTTCGCAGCACACTTTCTTTC 0.483 CIZ1 25792 broad.mit.edu 37 9 130952718 130952718 + Missense_Mutation SNP A A G TCGA-06-6699-01A-11D-1845-08 TCGA-06-6699-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90ba858d-e3bb-40d8-98ee-eeb127c58409 d5b55d58-8b00-41db-8a67-414f0577fc59 g.chr9:130952718A>G uc011mas.2 - 2 431 c.266T>C c.(265-267)cTc>cCc p.L89P CIZ1_uc004btr.3_Missense_Mutation_p.L59P|CIZ1_uc004bts.3_Missense_Mutation_p.L59P|CIZ1_uc011maq.2_Missense_Mutation_p.L59P|CIZ1_uc004btu.3_Missense_Mutation_p.L59P|CIZ1_uc004btt.3_Missense_Mutation_p.L59P|CIZ1_uc011mar.2_Intron|CIZ1_uc004btw.3_Missense_Mutation_p.L59P|CIZ1_uc004btv.3_Missense_Mutation_p.L59P|CIZ1_uc004btx.2_Missense_Mutation_p.L59P NM_012127 NP_036259 Q9ULV3 CIZ1_HUMAN Homo sapiens CDKN1A interacting zinc finger protein 1 (CIZ1), transcript variant 1, mRNA. 59 nucleus nucleic acid binding|protein binding|zinc ion binding NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|liver(1)|lung(9)|ovary(3)|prostate(2)|urinary_tract(2) 35 CTGCGGGGGGAGCCCCCTGTG 0.582 TUBBP5 643224 broad.mit.edu 37 9 141070064 141070064 + Translation_Start_Site SNP G G A TCGA-06-6699-01A-11D-1845-08 TCGA-06-6699-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90ba858d-e3bb-40d8-98ee-eeb127c58409 d5b55d58-8b00-41db-8a67-414f0577fc59 g.chr9:141070064G>A uc010ncq.3 + 3 1144 c.304G>A c.(304-306)Gtg>Atg p.V102M Homo sapiens tubulin, beta pseudogene 5 (TUBBP5), non-coding RNA. TGGCAGGTACGTGCCCCGCGC 0.716 FRMPD4 9758 broad.mit.edu 37 X 12516825 12516825 + Missense_Mutation SNP C C T TCGA-06-6699-01A-11D-1845-08 TCGA-06-6699-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90ba858d-e3bb-40d8-98ee-eeb127c58409 d5b55d58-8b00-41db-8a67-414f0577fc59 g.chrX:12516825C>T uc004cuz.2 + 1 574 c.68C>T c.(67-69)cCg>cTg p.P23L FRMPD4_uc011mij.2_Missense_Mutation_p.P15L NM_014728 NP_055543 Q14CM0 FRPD4_HUMAN Homo sapiens FERM and PDZ domain containing 4 (FRMPD4), mRNA. 23 positive regulation of synapse structural plasticity cytoskeleton|dendritic spine phosphatidylinositol-4,5-bisphosphate binding|protein binding breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3) 22 TCAGGCTGGCCGCCTCCCTCG 0.512 CDKL5 6792 broad.mit.edu 37 X 18622187 18622187 + Silent SNP C C A TCGA-06-6699-01A-11D-1845-08 TCGA-06-6699-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90ba858d-e3bb-40d8-98ee-eeb127c58409 d5b55d58-8b00-41db-8a67-414f0577fc59 g.chrX:18622187C>A uc004cym.3 + 11 1396 c.1143C>A c.(1141-1143)acC>acA p.T381T CDKL5_uc004cyn.3_Silent_p.T381T|CDKL5_uc022btn.1_Silent_p.T372T NM_003159 NP_003150 O76039 CDKL5_HUMAN Homo sapiens cyclin-dependent kinase-like 5 (CDKL5), transcript variant I, mRNA. 381 neuron migration|positive regulation of axon extension|positive regulation of dendrite morphogenesis|positive regulation of Rac GTPase activity|protein autophosphorylation dendrite cytoplasm|dendritic growth cone|nucleus ATP binding|cyclin-dependent protein kinase activity|Rac GTPase binding NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1) 44 Hepatocellular(33;0.183) CACTGCACACCAAAACCTACC 0.507 SYP 6855 broad.mit.edu 37 X 49048188 49048188 + Silent SNP G G A TCGA-06-6699-01A-11D-1845-08 TCGA-06-6699-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90ba858d-e3bb-40d8-98ee-eeb127c58409 d5b55d58-8b00-41db-8a67-414f0577fc59 g.chrX:49048188G>A uc004dmz.1 - 5 664 c.648C>T c.(646-648)gtC>gtT p.V216V SYP_uc011mmz.1_Silent_p.V98V NM_003179 NP_003170 P08247 SYPH_HUMAN Homo sapiens synaptophysin (SYP), mRNA. 216 MARVEL. regulation of long-term neuronal synaptic plasticity|regulation of short-term neuronal synaptic plasticity|synaptic vesicle maturation|synaptic vesicle membrane organization cell junction|integral to synaptic vesicle membrane|synaptosome calcium ion binding|cholesterol binding|transporter activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1) 15 all_lung(315;0.00016) ACAGGTTGCCGACCCAGAGCA 0.677 FOXP3 50943 broad.mit.edu 37 X 49112252 49112252 + Missense_Mutation SNP G G A rs2232369 TCGA-06-6699-01A-11D-1845-08 TCGA-06-6699-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90ba858d-e3bb-40d8-98ee-eeb127c58409 d5b55d58-8b00-41db-8a67-414f0577fc59 g.chrX:49112252G>A uc004dnf.4 - 6 847 c.659C>T c.(658-660)gCg>gTg p.A220V FOXP3_uc011mnb.2_Missense_Mutation_p.A243V|FOXP3_uc011mnc.2_Missense_Mutation_p.A220V|FOXP3_uc004dne.4_Missense_Mutation_p.A185V|FOXP3_uc022bwa.1_Missense_Mutation_p.A170V NM_014009 NP_054728 Q9BZS1 FOXP3_HUMAN Homo sapiens forkhead box P3 (FOXP3), transcript variant 1, mRNA. 220 B cell homeostasis|cerebellum development|chromatin remodeling|embryo development|myeloid cell homeostasis|negative regulation of activated T cell proliferation|negative regulation of chronic inflammatory response|negative regulation of CREB transcription factor activity|negative regulation of cytokine secretion|negative regulation of histone acetylation|negative regulation of histone deacetylation|negative regulation of interferon-gamma biosynthetic process|negative regulation of interferon-gamma production|negative regulation of interleukin-10 production|negative regulation of interleukin-2 biosynthetic process|negative regulation of interleukin-2 production|negative regulation of interleukin-4 production|negative regulation of interleukin-5 production|negative regulation of interleukin-6 production|negative regulation of isotype switching to IgE isotypes|negative regulation of NF-kappaB transcription factor activity|negative regulation of T cell cytokine production|negative regulation of tumor necrosis factor production|pattern specification process|positive regulation of CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation|positive regulation of histone acetylation|positive regulation of immature T cell proliferation in thymus|positive regulation of peripheral T cell tolerance induction|positive regulation of T cell anergy|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transforming growth factor-beta1 production|post-embryonic development|regulation of isotype switching to IgG isotypes|response to virus|T cell homeostasis|T cell receptor signaling pathway|tolerance induction to self antigen cytoplasm|nucleus|transcription factor complex chromatin binding|DNA bending activity|double-stranded DNA binding|histone acetyltransferase binding|histone deacetylase binding|NF-kappaB binding|NFAT protein binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription corepressor activity|zinc ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1) 10 Ovarian(276;0.236) AAGATGGTCCGCCTGGCAGTG 0.587 ITIH6 347365 broad.mit.edu 37 X 54777784 54777784 + Missense_Mutation SNP C C T rs146825535 TCGA-06-6699-01A-11D-1845-08 TCGA-06-6699-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90ba858d-e3bb-40d8-98ee-eeb127c58409 d5b55d58-8b00-41db-8a67-414f0577fc59 g.chrX:54777784C>T uc004dtj.2 - 11 3412 c.3382G>A c.(3382-3384)Gca>Aca p.A1128T NM_198510 NP_940912 Q6UXX5 ITH5L_HUMAN Homo sapiens inter-alpha-trypsin inhibitor heavy chain family, member 6 (ITIH6), mRNA. 1128 hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity CTTGGTGGTGCGCCAAGCAGC 0.592 TEX11 56159 broad.mit.edu 37 X 69825267 69825267 + Nonsense_Mutation SNP G G T TCGA-06-6699-01A-11D-1845-08 TCGA-06-6699-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90ba858d-e3bb-40d8-98ee-eeb127c58409 d5b55d58-8b00-41db-8a67-414f0577fc59 g.chrX:69825267G>T uc004dyl.3 - 24 2258 c.2096C>A c.(2095-2097)tCa>tAa p.S699* TEX11_uc004dyk.3_Nonsense_Mutation_p.S374*|TEX11_uc004dym.3_Nonsense_Mutation_p.S684* NM_001003811 NP_001003811 Q8IYF3 TEX11_HUMAN Homo sapiens testis expressed 11 (TEX11), transcript variant 1, mRNA. 699 protein binding breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(13)|ovary(3)|prostate(3)|skin(3) 48 Renal(35;0.156) AAAAGCTGTTGAAGCTTTTCT 0.388 IL9R 3581 broad.mit.edu 37 X 155239824 155239824 + Missense_Mutation SNP A A G TCGA-06-6699-01A-11D-1845-08 TCGA-06-6699-10A-01D-1845-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90ba858d-e3bb-40d8-98ee-eeb127c58409 d5b55d58-8b00-41db-8a67-414f0577fc59 g.chrX:155239824A>G uc004fnv.1 + 8 1495 c.1316A>G c.(1315-1317)aAc>aGc p.N439S IL9R_uc004fnu.1_3'UTR NM_002186 NP_002177 Q01113 IL9R_HUMAN Homo sapiens interleukin 9 receptor (IL9R), transcript variant 1, mRNA. 439 Poly-Asn. cell proliferation extracellular space|integral to plasma membrane interleukin-9 receptor activity p.N439S(2) NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(12)|upper_aerodigestive_tract(1) 23 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) agcagcagcaacaacaacaAC 0.642