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 t_alt_count t_ref_count validation_status validation_method validation_tumor_sample validation_alt_allele filter CHD5 26038 broad.mit.edu 37 1 6169927 6169927 + Missense_Mutation SNP C T T TCGA-43-3394-01A-01D-0983-08 TCGA-43-3394-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx bb72e789-f8ad-4ab5-805b-a9ac21cef0e3 37a26c5a-bbbc-4403-81b3-5c5510ee3432 g.chr1:6169927C>T uc001amb.1 - 38 5606 c.5506G>A c.(5506-5508)GCC>ACC p.A1836T CHD5_uc001alz.1_Missense_Mutation_p.A693T|CHD5_uc001ama.1_RNA NM_015557 NP_056372 Q8TDI0 CHD5_HUMAN chromodomain helicase DNA binding protein 5 1836 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding central_nervous_system(3)|breast(3)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)|skin(1)|pancreas(1) 12 Ovarian(185;0.0634) all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15) Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193) TGGCTCTCGGCGAGGCACTCC 0.662 28 18 --- --- --- --- PASS RCC2 55920 broad.mit.edu 37 1 17740092 17740092 + Missense_Mutation SNP C A A TCGA-43-3394-01A-01D-0983-08 TCGA-43-3394-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx bb72e789-f8ad-4ab5-805b-a9ac21cef0e3 37a26c5a-bbbc-4403-81b3-5c5510ee3432 g.chr1:17740092C>A uc001bal.2 - 8 1195 c.1148G>T c.(1147-1149)GGG>GTG p.G383V RCC2_uc001bam.2_Missense_Mutation_p.G383V NM_001136204 NP_001129676 Q9P258 RCC2_HUMAN regulator of chromosome condensation 2 383 RCC1 5. cell division|mitotic prometaphase chromosome, centromeric region|cytosol|microtubule|nucleolus|spindle 0 Colorectal(325;0.000147)|Breast(348;0.00122)|Renal(390;0.00145)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439) UCEC - Uterine corpus endometrioid carcinoma (279;0.00492)|BRCA - Breast invasive adenocarcinoma(304;7.69e-06)|COAD - Colon adenocarcinoma(227;1.19e-05)|Kidney(64;0.000189)|KIRC - Kidney renal clear cell carcinoma(64;0.00273)|STAD - Stomach adenocarcinoma(196;0.0135)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.19) AGCCCCACGCCCAGGGAAGTC 0.587 5 59 --- --- --- --- PASS ARID1A 8289 broad.mit.edu 37 1 27105921 27105921 + Nonsense_Mutation SNP G A A TCGA-43-3394-01A-01D-0983-08 TCGA-43-3394-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx bb72e789-f8ad-4ab5-805b-a9ac21cef0e3 37a26c5a-bbbc-4403-81b3-5c5510ee3432 g.chr1:27105921G>A uc001bmv.1 + 20 5905 c.5532G>A c.(5530-5532)TGG>TGA p.W1844* ARID1A_uc001bmu.1_Nonsense_Mutation_p.W1627*|ARID1A_uc001bmx.1_Nonsense_Mutation_p.W690*|ARID1A_uc009vsm.1_Nonsense_Mutation_p.W172*|ARID1A_uc009vsn.1_Nonsense_Mutation_p.W86* NM_006015 NP_006006 O14497 ARI1A_HUMAN AT rich interactive domain 1A isoform a 1844 androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent nBAF complex|npBAF complex|SWI/SNF complex DNA binding|protein binding ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1) 142 all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242) TGCTGCACTGGCGGATTGGTG 0.577 Mis|N|F|S|D clear cell ovarian carcinoma|RCC 41 15 --- --- --- --- PASS FAM183A 440585 broad.mit.edu 37 1 43613721 43613721 + Silent SNP C A A TCGA-43-3394-01A-01D-0983-08 TCGA-43-3394-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx bb72e789-f8ad-4ab5-805b-a9ac21cef0e3 37a26c5a-bbbc-4403-81b3-5c5510ee3432 g.chr1:43613721C>A uc009vwo.2 + 1 128 c.99C>A c.(97-99)CTC>CTA p.L33L NM_001101376 NP_001094846 A6NL82 F183A_HUMAN hCG23177 33 ovary(3) 3 CCCAGAAACTCTACACGCAGT 0.607 4 29 --- --- --- --- PASS ERI3 79033 broad.mit.edu 37 1 44804965 44804965 + Missense_Mutation SNP C A A TCGA-43-3394-01A-01D-0983-08 TCGA-43-3394-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx bb72e789-f8ad-4ab5-805b-a9ac21cef0e3 37a26c5a-bbbc-4403-81b3-5c5510ee3432 g.chr1:44804965C>A uc001clt.2 - 3 482 c.241G>T c.(241-243)GCA>TCA p.A81S ERI3_uc010okv.1_Intron|ERI3_uc009vxg.2_Missense_Mutation_p.A81S|ERI3_uc010okw.1_Missense_Mutation_p.A3S|ERI3_uc001clu.2_Missense_Mutation_p.A3S NM_024066 NP_076971 O43414 ERI3_HUMAN prion protein interacting protein 81 intracellular exonuclease activity|metal ion binding|nucleic acid binding ovary(2)|large_intestine(1) 3 TGTAAAGGTGCTAGCATTGAA 0.353 61 58 --- --- --- --- PASS SSBP3 23648 broad.mit.edu 37 1 54722846 54722846 + Missense_Mutation SNP G A A TCGA-43-3394-01A-01D-0983-08 TCGA-43-3394-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx bb72e789-f8ad-4ab5-805b-a9ac21cef0e3 37a26c5a-bbbc-4403-81b3-5c5510ee3432 g.chr1:54722846G>A uc001cxe.2 - 7 759 c.461C>T c.(460-462)CCG>CTG p.P154L SSBP3_uc001cxf.2_Intron|SSBP3_uc001cxg.2_Missense_Mutation_p.P127L NM_145716 NP_663768 Q9BWW4 SSBP3_HUMAN single stranded DNA binding protein 3 isoform a 154 Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus single-stranded DNA binding 0 TGCGTATCGCGGTGACATAAA 0.517 4 3 --- --- --- --- PASS SGIP1 84251 broad.mit.edu 37 1 67147840 67147840 + Missense_Mutation SNP G A A rs143518805 byFrequency TCGA-43-3394-01A-01D-0983-08 TCGA-43-3394-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx bb72e789-f8ad-4ab5-805b-a9ac21cef0e3 37a26c5a-bbbc-4403-81b3-5c5510ee3432 g.chr1:67147840G>A uc001dcr.2 + 15 1320 c.1103G>A c.(1102-1104)CGC>CAC p.R368H SGIP1_uc010opd.1_Intron|SGIP1_uc001dcs.2_Intron|SGIP1_uc001dct.2_Intron|SGIP1_uc009wat.2_Missense_Mutation_p.R135H NM_032291 NP_115667 Q9BQI5 SGIP1_HUMAN SH3-domain GRB2-like (endophilin) interacting 368 Pro-rich. positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess AP-2 adaptor complex microtubule binding|phospholipid binding|SH3 domain binding ovary(3) 3 GGGCCTCCTCGCAATGTACTA 0.552 7 73 --- --- --- --- PASS CTTNBP2NL 55917 broad.mit.edu 37 1 112999055 112999055 + Missense_Mutation SNP C A A TCGA-43-3394-01A-01D-0983-08 TCGA-43-3394-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx bb72e789-f8ad-4ab5-805b-a9ac21cef0e3 37a26c5a-bbbc-4403-81b3-5c5510ee3432 g.chr1:112999055C>A uc001ebx.2 + 6 1169 c.941C>A c.(940-942)ACA>AAA p.T314K CTTNBP2NL_uc001ebz.2_5'Flank NM_018704 NP_061174 Q9P2B4 CT2NL_HUMAN CTTNBP2 N-terminal like 314 actin cytoskeleton protein binding central_nervous_system(2)|ovary(1) 3 all_cancers(81;0.00064)|all_epithelial(167;0.000415)|all_lung(203;0.00045)|Lung NSC(69;0.000705) Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) TTTTGCCAAACAGAGAGTTTT 0.483 32 99 --- --- --- --- PASS ASPM 259266 broad.mit.edu 37 1 197069780 197069780 + Missense_Mutation SNP C A A TCGA-43-3394-01A-01D-0983-08 TCGA-43-3394-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx bb72e789-f8ad-4ab5-805b-a9ac21cef0e3 37a26c5a-bbbc-4403-81b3-5c5510ee3432 g.chr1:197069780C>A uc001gtu.2 - 18 8858 c.8601G>T c.(8599-8601)CAG>CAT p.Q2867H ASPM_uc001gtv.2_Intron|ASPM_uc001gtw.3_Missense_Mutation_p.Q715H NM_018136 NP_060606 Q8IZT6 ASPM_HUMAN asp (abnormal spindle)-like, microcephaly 2867 IQ 32. mitosis cytoplasm|nucleus calmodulin binding ovary(4)|central_nervous_system(2) 6 TAAAATAATGCTGTAAAGTGA 0.393 20 8 --- --- --- --- PASS OR2M2 391194 broad.mit.edu 37 1 248343383 248343383 + Silent SNP G C C TCGA-43-3394-01A-01D-0983-08 TCGA-43-3394-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx bb72e789-f8ad-4ab5-805b-a9ac21cef0e3 37a26c5a-bbbc-4403-81b3-5c5510ee3432 g.chr1:248343383G>C uc010pzf.1 + 1 96 c.96G>C c.(94-96)CTG>CTC p.L32L NM_001004688 NP_001004688 Q96R28 OR2M2_HUMAN olfactory receptor, family 2, subfamily M, 32 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(3)|skin(1) 4 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0245) TTCTGGTCCTGGGCATCTTTT 0.512 71 62 --- --- --- --- PASS RNF144A 9781 broad.mit.edu 37 2 7137169 7137169 + Missense_Mutation SNP T C C TCGA-43-3394-01A-01D-0983-08 TCGA-43-3394-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx bb72e789-f8ad-4ab5-805b-a9ac21cef0e3 37a26c5a-bbbc-4403-81b3-5c5510ee3432 g.chr2:7137169T>C uc002qys.2 + 3 554 c.112T>C c.(112-114)TGC>CGC p.C38R RNF144A_uc002qyt.2_Intron NM_014746 NP_055561 P50876 R144A_HUMAN ring finger protein 144 38 RING-type 1; atypical. Golgi apparatus|integral to membrane ligase activity|zinc ion binding ovary(1)|kidney(1) 2 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) all_cancers(51;0.226) OV - Ovarian serous cystadenocarcinoma(76;0.195) CATAGCCCAGTGCCAATGCAT 0.493 25 50 --- --- --- --- PASS ALMS1 7840 broad.mit.edu 37 2 73826590 73826590 + Silent SNP A C C TCGA-43-3394-01A-01D-0983-08 TCGA-43-3394-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx bb72e789-f8ad-4ab5-805b-a9ac21cef0e3 37a26c5a-bbbc-4403-81b3-5c5510ee3432 g.chr2:73826590A>C uc002sje.1 + 19 11724 c.11613A>C c.(11611-11613)TCA>TCC p.S3871S ALMS1_uc002sjf.1_Silent_p.S3827S|ALMS1_uc002sjh.1_Silent_p.S3257S NM_015120 NP_055935 Q8TCU4 ALMS1_HUMAN Alstrom syndrome 1 3869 G2/M transition of mitotic cell cycle centrosome|cilium|cytosol|microtubule basal body|spindle pole skin(3)|ovary(2)|breast(2)|pancreas(1)|lung(1) 9 TCCTGAGCTCAAACTCTACTT 0.318 14 123 --- --- --- --- PASS C2orf55 343990 broad.mit.edu 37 2 99454634 99454634 + Missense_Mutation SNP C T T TCGA-43-3394-01A-01D-0983-08 TCGA-43-3394-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx bb72e789-f8ad-4ab5-805b-a9ac21cef0e3 37a26c5a-bbbc-4403-81b3-5c5510ee3432 g.chr2:99454634C>T uc002szf.1 - 3 481 c.187G>A c.(187-189)GTC>ATC p.V63I NM_207362 NP_997245 Q6NV74 CB055_HUMAN hypothetical protein LOC343990 63 0 ATGGCAATGACCTCATTCCTC 0.473 4 22 --- --- --- --- PASS HS6ST1 9394 broad.mit.edu 37 2 129026360 129026360 + Missense_Mutation SNP C A A TCGA-43-3394-01A-01D-0983-08 TCGA-43-3394-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx bb72e789-f8ad-4ab5-805b-a9ac21cef0e3 37a26c5a-bbbc-4403-81b3-5c5510ee3432 g.chr2:129026360C>A uc002tpt.3 - 2 646 c.612G>T c.(610-612)TGG>TGT p.W204C NM_004807 NP_004798 O60243 H6ST1_HUMAN heparan sulfate 6-O-sulfotransferase 1 204 Lumenal (Potential). heparan sulfate proteoglycan biosynthetic process, enzymatic modification integral to plasma membrane sulfotransferase activity pancreas(1) 1 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.117) ACGACGTCTTCCACGTGGCAC 0.642 9 21 --- --- --- --- PASS THSD7B 80731 broad.mit.edu 37 2 138030108 138030108 + Missense_Mutation SNP G A A TCGA-43-3394-01A-01D-0983-08 TCGA-43-3394-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx bb72e789-f8ad-4ab5-805b-a9ac21cef0e3 37a26c5a-bbbc-4403-81b3-5c5510ee3432 g.chr2:138030108G>A uc002tva.1 + 10 2179 c.2179G>A c.(2179-2181)GCC>ACC p.A727T THSD7B_uc010zbj.1_Intron|THSD7B_uc002tvb.2_Missense_Mutation_p.A617T NM_001080427 NP_001073896 thrombospondin, type I, domain containing 7B ovary(4)|central_nervous_system(2)|pancreas(1) 7 BRCA - Breast invasive adenocarcinoma(221;0.19) TTCAGGAAATGCCACAGTAAA 0.383 11 21 --- --- --- --- PASS LRP1B 53353 broad.mit.edu 37 2 142004811 142004811 + Silent SNP A T T TCGA-43-3394-01A-01D-0983-08 TCGA-43-3394-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx bb72e789-f8ad-4ab5-805b-a9ac21cef0e3 37a26c5a-bbbc-4403-81b3-5c5510ee3432 g.chr2:142004811A>T uc002tvj.1 - 5 1548 c.576T>A c.(574-576)TCT>TCA p.S192S LRP1B_uc010fnl.1_Intron NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 192 Extracellular (Potential).|EGF-like 2; calcium-binding (Potential). protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1) 50 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) TAGCCTTGCAAGATCTGTTGT 0.388 TSP Lung(27;0.18) 16 37 --- --- --- --- PASS MBD5 55777 broad.mit.edu 37 2 149240909 149240909 + Missense_Mutation SNP A G G TCGA-43-3394-01A-01D-0983-08 TCGA-43-3394-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx bb72e789-f8ad-4ab5-805b-a9ac21cef0e3 37a26c5a-bbbc-4403-81b3-5c5510ee3432 g.chr2:149240909A>G uc002twm.3 + 10 3737 c.2749A>G c.(2749-2751)AGC>GGC p.S917G MBD5_uc010zbs.1_RNA|MBD5_uc010fns.2_Missense_Mutation_p.S917G|MBD5_uc002two.2_5'Flank|MBD5_uc002twp.2_5'Flank NM_018328 NP_060798 Q9P267 MBD5_HUMAN methyl-CpG binding domain protein 5 917 chromosome|nucleus chromatin binding|DNA binding skin(3)|ovary(2) 5 BRCA - Breast invasive adenocarcinoma(221;0.0569) CTTGAACCCCAGCCTCCTCAG 0.468 52 83 --- --- --- --- PASS XIRP2 129446 broad.mit.edu 37 2 168106268 168106268 + Missense_Mutation SNP T C C TCGA-43-3394-01A-01D-0983-08 TCGA-43-3394-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx bb72e789-f8ad-4ab5-805b-a9ac21cef0e3 37a26c5a-bbbc-4403-81b3-5c5510ee3432 g.chr2:168106268T>C uc002udx.2 + 8 8384 c.8366T>C c.(8365-8367)ATA>ACA p.I2789T XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.I2614T|XIRP2_uc010fpq.2_Missense_Mutation_p.I2567T|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_Missense_Mutation_p.I135T NM_152381 NP_689594 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 isoform 1 2614 actin cytoskeleton organization cell junction actin binding skin(7)|ovary(6)|pancreas(1) 14 ACAGAATCCATACAGAAGAAC 0.408 38 48 --- --- --- --- PASS ITGA6 3655 broad.mit.edu 37 2 173356152 173356152 + Splice_Site SNP G T T TCGA-43-3394-01A-01D-0983-08 TCGA-43-3394-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx bb72e789-f8ad-4ab5-805b-a9ac21cef0e3 37a26c5a-bbbc-4403-81b3-5c5510ee3432 g.chr2:173356152G>T uc002uhp.1 + 23 3093 c.2890_splice c.e23-1 p.E964_splice ITGA6_uc010zdy.1_Splice_Site_p.E845_splice|ITGA6_uc002uho.1_Splice_Site_p.E964_splice|ITGA6_uc010fqm.1_Splice_Site_p.E595_splice NM_001079818 NP_001073286 P23229 ITA6_HUMAN integrin alpha chain, alpha 6 isoform a blood coagulation|cell adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter integrin complex protein binding|receptor activity ovary(1)|lung(1) 2 OV - Ovarian serous cystadenocarcinoma(117;0.0979) TCTCCAAACAGGAATATTCCA 0.463 4 41 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179393645 179393645 + Silent SNP T C C TCGA-43-3394-01A-01D-0983-08 TCGA-43-3394-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx bb72e789-f8ad-4ab5-805b-a9ac21cef0e3 37a26c5a-bbbc-4403-81b3-5c5510ee3432 g.chr2:179393645T>C uc010zfg.1 - 309 99353 c.99129A>G c.(99127-99129)GCA>GCG p.A33043A uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.A26738A|TTN_uc010zfi.1_Silent_p.A26671A|TTN_uc010zfj.1_Silent_p.A26546A|TTN_uc002umq.2_Silent_p.A60A NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 33970 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GAGTAGAAAATGCTTTAATCT 0.423 18 58 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179571295 179571295 + Missense_Mutation SNP T C C TCGA-43-3394-01A-01D-0983-08 TCGA-43-3394-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx bb72e789-f8ad-4ab5-805b-a9ac21cef0e3 37a26c5a-bbbc-4403-81b3-5c5510ee3432 g.chr2:179571295T>C uc010zfg.1 - 99 25798 c.25574A>G c.(25573-25575)TAC>TGC p.Y8525C TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.Y5186C NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 9452 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CACGCATCGGTATAACCCAGA 0.413 109 87 --- --- --- --- PASS GRM2 2912 broad.mit.edu 37 3 51747147 51747147 + Missense_Mutation SNP T C C TCGA-43-3394-01A-01D-0983-08 TCGA-43-3394-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx bb72e789-f8ad-4ab5-805b-a9ac21cef0e3 37a26c5a-bbbc-4403-81b3-5c5510ee3432 g.chr3:51747147T>C uc010hlv.2 + 3 1348 c.1109T>C c.(1108-1110)GTG>GCG p.V370A GRM2_uc003dbo.3_Intron|GRM2_uc010hlu.2_RNA NM_000839 NP_000830 Q14416 GRM2_HUMAN glutamate receptor, metabotropic 2 isoform a 370 Extracellular (Potential). synaptic transmission integral to plasma membrane lung(1) 1 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) Acamprosate(DB00659)|Nicotine(DB00184) CTCCGGGCTGTGCCCTTTGAG 0.607 14 11 --- --- --- --- PASS FILIP1L 11259 broad.mit.edu 37 3 99567816 99567816 + Missense_Mutation SNP G A A TCGA-43-3394-01A-01D-0983-08 TCGA-43-3394-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx bb72e789-f8ad-4ab5-805b-a9ac21cef0e3 37a26c5a-bbbc-4403-81b3-5c5510ee3432 g.chr3:99567816G>A uc003dtm.2 - 5 3167 c.2704C>T c.(2704-2706)CTT>TTT p.L902F C3orf26_uc003dtk.1_Intron|C3orf26_uc003dtl.2_Intron|FILIP1L_uc003dto.2_Missense_Mutation_p.L902F|FILIP1L_uc010hpf.2_Missense_Mutation_p.L478F|FILIP1L_uc010hpg.2_Missense_Mutation_p.L662F|FILIP1L_uc003dtn.2_Missense_Mutation_p.L662F|FILIP1L_uc003dtp.1_Missense_Mutation_p.L662F NM_182909 NP_878913 Q4L180 FIL1L_HUMAN filamin A interacting protein 1-like isoform 1 902 cytoplasm|membrane|myosin complex|nucleus ovary(1) 1 TTTATATGAAGTGGCTGCCCA 0.463 88 83 --- --- --- --- PASS TFG 10342 broad.mit.edu 37 3 100447602 100447602 + Silent SNP C G G TCGA-43-3394-01A-01D-0983-08 TCGA-43-3394-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx bb72e789-f8ad-4ab5-805b-a9ac21cef0e3 37a26c5a-bbbc-4403-81b3-5c5510ee3432 g.chr3:100447602C>G uc003due.2 + 4 764 c.315C>G c.(313-315)CTC>CTG p.L105L TFG_uc003duf.2_Silent_p.L105L|TFG_uc003dug.2_Silent_p.L105L|TFG_uc003duh.2_Silent_p.L105L|TFG_uc003dui.2_Silent_p.L105L NM_006070 NP_006061 Q92734 TFG_HUMAN TRK-fused 105 Potential. positive regulation of I-kappaB kinase/NF-kappaB cascade cytoplasm signal transducer activity TFG/ALK(7) haematopoietic_and_lymphoid_tissue(7)|lung(2)|large_intestine(1)|prostate(1) 11 TGAAATATCTCCGTCGAGAAC 0.368 T NTRK1|ALK papillary thyroid|ALCL|NSCLC 24 77 --- --- --- --- PASS KIAA2018 205717 broad.mit.edu 37 3 113377278 113377278 + Missense_Mutation SNP G A A TCGA-43-3394-01A-01D-0983-08 TCGA-43-3394-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx bb72e789-f8ad-4ab5-805b-a9ac21cef0e3 37a26c5a-bbbc-4403-81b3-5c5510ee3432 g.chr3:113377278G>A uc003eam.2 - 7 3662 c.3251C>T c.(3250-3252)GCC>GTC p.A1084V KIAA2018_uc003eal.2_Missense_Mutation_p.A1028V NM_001009899 NP_001009899 Q68DE3 K2018_HUMAN hypothetical protein LOC205717 1084 regulation of transcription, DNA-dependent membrane|nucleus calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity skin(2)|ovary(1) 3 GGGAGAGTCGGCCTGTCTACC 0.453 43 97 --- --- --- --- PASS CLSTN2 64084 broad.mit.edu 37 3 140281051 140281051 + Missense_Mutation SNP G T T TCGA-43-3394-01A-01D-0983-08 TCGA-43-3394-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx bb72e789-f8ad-4ab5-805b-a9ac21cef0e3 37a26c5a-bbbc-4403-81b3-5c5510ee3432 g.chr3:140281051G>T uc003etn.2 + 13 2303 c.2113G>T c.(2113-2115)GAC>TAC p.D705Y NM_022131 NP_071414 Q9H4D0 CSTN2_HUMAN calsyntenin 2 precursor 705 Extracellular (Potential). homophilic cell adhesion endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane calcium ion binding skin(3)|large_intestine(2)|pancreas(1)|central_nervous_system(1) 7 GATCGGAGGGGACTTGGACCC 0.493 HNSCC(16;0.037) 25 66 --- --- --- --- PASS SLC9A9 285195 broad.mit.edu 37 3 143412129 143412129 + Missense_Mutation SNP A G G TCGA-43-3394-01A-01D-0983-08 TCGA-43-3394-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx bb72e789-f8ad-4ab5-805b-a9ac21cef0e3 37a26c5a-bbbc-4403-81b3-5c5510ee3432 g.chr3:143412129A>G uc003evn.2 - 5 736 c.554T>C c.(553-555)GTG>GCG p.V185A SLC9A9_uc011bnk.1_Missense_Mutation_p.V59A NM_173653 NP_775924 Q8IVB4 SL9A9_HUMAN solute carrier family 9 (sodium/hydrogen 185 Helical; (Potential). regulation of pH integral to membrane|late endosome membrane|recycling endosome sodium:hydrogen antiporter activity ovary(2)|skin(1) 3 CATAGCCTTCACAAAACCATA 0.378 11 64 --- --- --- --- PASS DHX36 170506 broad.mit.edu 37 3 154017707 154017707 + Missense_Mutation SNP G A A TCGA-43-3394-01A-01D-0983-08 TCGA-43-3394-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx bb72e789-f8ad-4ab5-805b-a9ac21cef0e3 37a26c5a-bbbc-4403-81b3-5c5510ee3432 g.chr3:154017707G>A uc003ezy.3 - 12 1550 c.1469C>T c.(1468-1470)GCG>GTG p.A490V DHX36_uc010hvq.2_Missense_Mutation_p.A490V|DHX36_uc003ezz.3_Missense_Mutation_p.A490V NM_020865 NP_065916 Q9H2U1 DHX36_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 36 490 Helicase C-terminal. cytoplasm|nucleus ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding skin(1) 1 LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173) GACCAGTATCGCACCATCCTA 0.358 7 71 --- --- --- --- PASS IFT80 57560 broad.mit.edu 37 3 159995188 159995188 + Missense_Mutation SNP T G G TCGA-43-3394-01A-01D-0983-08 TCGA-43-3394-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx bb72e789-f8ad-4ab5-805b-a9ac21cef0e3 37a26c5a-bbbc-4403-81b3-5c5510ee3432 g.chr3:159995188T>G uc011boy.1 - 18 2438 c.2005A>C c.(2005-2007)AGT>CGT p.S669R IFT80_uc003fda.2_RNA|IFT80_uc003fdb.1_Missense_Mutation_p.S532R|IFT80_uc003fdd.1_Missense_Mutation_p.S352R|IFT80_uc003fde.1_Missense_Mutation_p.S532R NM_020800 NP_065851 Q9P2H3 IFT80_HUMAN WD repeat domain 56 669 cilium axoneme|microtubule basal body ovary(1) 1 Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523) ATGTTCCCACTAAACAGTAGT 0.328 47 81 --- --- --- --- PASS MECOM 2122 broad.mit.edu 37 3 168810803 168810803 + Missense_Mutation SNP C A A TCGA-43-3394-01A-01D-0983-08 TCGA-43-3394-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx bb72e789-f8ad-4ab5-805b-a9ac21cef0e3 37a26c5a-bbbc-4403-81b3-5c5510ee3432 g.chr3:168810803C>A uc003ffi.3 - 13 2812 c.2543G>T c.(2542-2544)CGA>CTA p.R848L MECOM_uc010hwk.1_Missense_Mutation_p.R862L|MECOM_uc003ffj.3_Missense_Mutation_p.R913L|MECOM_uc011bpi.1_Missense_Mutation_p.R840L|MECOM_uc003ffn.3_Missense_Mutation_p.R848L|MECOM_uc003ffk.2_Missense_Mutation_p.R839L|MECOM_uc003ffl.2_Missense_Mutation_p.R999L|MECOM_uc011bpj.1_Missense_Mutation_p.R1036L|MECOM_uc011bpk.1_Missense_Mutation_p.R838L NM_005241 NP_005232 Q03112 EVI1_HUMAN MDS1 and EVI1 complex locus isoform b 848 apoptosis|cell differentiation|hemopoietic stem cell proliferation|negative regulation of JNK cascade|negative regulation of programmed cell death|negative regulation of transcription, DNA-dependent|regulation of cell cycle nuclear speck DNA binding|protein binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|zinc ion binding lung(5)|skin(5)|upper_aerodigestive_tract(1)|central_nervous_system(1)|ovary(1)|pancreas(1) 14 AATGAAATTTCGAATTTCTGT 0.443 12 202 --- --- --- --- PASS ZNF718 255403 broad.mit.edu 37 4 155336 155336 + Missense_Mutation SNP A T T TCGA-43-3394-01A-01D-0983-08 TCGA-43-3394-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx bb72e789-f8ad-4ab5-805b-a9ac21cef0e3 37a26c5a-bbbc-4403-81b3-5c5510ee3432 g.chr4:155336A>T uc003fzt.3 + 8 994 c.861A>T c.(859-861)GAA>GAT p.E287D ZNF595_uc003fzu.1_Intron|ZNF718_uc010iaz.2_RNA|ZNF718_uc003fzw.3_Missense_Mutation_p.N67I NM_001039127 NP_001034216 Q3SXZ3 ZN718_HUMAN zinc finger protein 718 287 C2H2-type 5. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_cancers(4;0.0738)|all_epithelial(65;0.139) Lung(54;0.0681)|Epithelial(2;0.0838)|all cancers(2;0.135)|LUSC - Lung squamous cell carcinoma(95;0.18) AATGTGAAGAATGTGGTAAAG 0.358 13 6 --- --- --- --- PASS SLIT2 9353 broad.mit.edu 37 4 20598038 20598038 + Silent SNP T C C TCGA-43-3394-01A-01D-0983-08 TCGA-43-3394-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx bb72e789-f8ad-4ab5-805b-a9ac21cef0e3 37a26c5a-bbbc-4403-81b3-5c5510ee3432 g.chr4:20598038T>C uc003gpr.1 + 32 3525 c.3321T>C c.(3319-3321)AGT>AGC p.S1107S SLIT2_uc003gps.1_Silent_p.S1099S NM_004787 NP_004778 O94813 SLIT2_HUMAN slit homolog 2 precursor 1107 EGF-like 5; calcium-binding (Potential). apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development cell surface|cytoplasm|extracellular space|plasma membrane calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding central_nervous_system(4)|skin(4)|ovary(3) 11 TATTCTTCAGTGGCTTGTTCT 0.363 11 4 --- --- --- --- PASS PPARGC1A 10891 broad.mit.edu 37 4 23803870 23803870 + Silent SNP G A A TCGA-43-3394-01A-01D-0983-08 TCGA-43-3394-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx bb72e789-f8ad-4ab5-805b-a9ac21cef0e3 37a26c5a-bbbc-4403-81b3-5c5510ee3432 g.chr4:23803870G>A uc003gqs.2 - 11 2238 c.2118C>T c.(2116-2118)TGC>TGT p.C706C PPARGC1A_uc003gqt.2_RNA NM_013261 NP_037393 Q9UBK2 PRGC1_HUMAN peroxisome proliferator-activated receptor 706 RRM. androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mitochondrion organization|mRNA processing|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|RNA splicing|temperature homeostasis|transcription initiation from RNA polymerase II promoter DNA-directed RNA polymerase II, core complex androgen receptor binding|DNA binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|RNA binding|RNA polymerase II transcription cofactor activity|transcription factor binding ovary(2)|lung(2)|kidney(2)|skin(2) 8 Breast(46;0.0503) GATTTACTGTGCACTCCTCAA 0.418 33 22 --- --- --- --- PASS ATP8A1 10396 broad.mit.edu 37 4 42445668 42445668 + Missense_Mutation SNP C A A TCGA-43-3394-01A-01D-0983-08 TCGA-43-3394-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx bb72e789-f8ad-4ab5-805b-a9ac21cef0e3 37a26c5a-bbbc-4403-81b3-5c5510ee3432 g.chr4:42445668C>A uc003gwr.2 - 33 3269 c.3037G>T c.(3037-3039)GGG>TGG p.G1013W ATP8A1_uc003gwq.2_Missense_Mutation_p.G239W|ATP8A1_uc003gws.2_Missense_Mutation_p.G998W NM_006095 NP_006086 Q9Y2Q0 AT8A1_HUMAN ATPase, aminophospholipid transporter (APLT), 1013 Helical; (Potential). ATP biosynthetic process chromaffin granule membrane|integral to membrane|plasma membrane aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity skin(2)|central_nervous_system(1) 3 Phosphatidylserine(DB00144) GCGATGCTCCCCCATATCGCT 0.448 12 15 --- --- --- --- PASS GABRG1 2565 broad.mit.edu 37 4 46043218 46043218 + Silent SNP A T T TCGA-43-3394-01A-01D-0983-08 TCGA-43-3394-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx bb72e789-f8ad-4ab5-805b-a9ac21cef0e3 37a26c5a-bbbc-4403-81b3-5c5510ee3432 g.chr4:46043218A>T uc003gxb.2 - 9 1337 c.1185T>A c.(1183-1185)TCT>TCA p.S395S NM_173536 NP_775807 Q8N1C3 GBRG1_HUMAN gamma-aminobutyric acid A receptor, gamma 1 395 Cytoplasmic (Probable). gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity ovary(2) 2 Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23) CTTGCGGCACAGAAATATTAT 0.408 11 22 --- --- --- --- PASS NPY1R 4886 broad.mit.edu 37 4 164247222 164247222 + Missense_Mutation SNP A C C TCGA-43-3394-01A-01D-0983-08 TCGA-43-3394-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx bb72e789-f8ad-4ab5-805b-a9ac21cef0e3 37a26c5a-bbbc-4403-81b3-5c5510ee3432 g.chr4:164247222A>C uc003iqm.1 - 2 751 c.485T>G c.(484-486)ATT>AGT p.I162S NPY1R_uc011cjj.1_Intron NM_000909 NP_000900 P25929 NPY1R_HUMAN neuropeptide Y receptor Y1 162 Helical; Name=4; (Potential). inhibition of adenylate cyclase activity by G-protein signaling pathway|outflow tract morphogenesis integral to plasma membrane protein binding lung(1)|pancreas(1) 2 all_hematologic(180;0.166) Prostate(90;0.0959)|all_neural(102;0.223) AAGGACCCAAATCACAGCAAT 0.433 27 14 --- --- --- --- PASS CLCN3 1182 broad.mit.edu 37 4 170610338 170610338 + Missense_Mutation SNP C A A TCGA-43-3394-01A-01D-0983-08 TCGA-43-3394-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx bb72e789-f8ad-4ab5-805b-a9ac21cef0e3 37a26c5a-bbbc-4403-81b3-5c5510ee3432 g.chr4:170610338C>A uc003isi.2 + 5 1072 c.563C>A c.(562-564)CCA>CAA p.P188Q CLCN3_uc003ish.2_Missense_Mutation_p.P188Q|CLCN3_uc011cjz.1_Missense_Mutation_p.P171Q|CLCN3_uc011cka.1_Missense_Mutation_p.P188Q|CLCN3_uc003isj.1_Missense_Mutation_p.P161Q NM_001829 NP_001820 P51790 CLCN3_HUMAN chloride channel 3 isoform b 188 endosomal lumen acidification cell surface|early endosome membrane|Golgi membrane|integral to membrane|late endosome membrane|transport vesicle membrane antiporter activity|ATP binding|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|voltage-gated chloride channel activity breast(2)|ovary(1) 3 Prostate(90;0.00601)|Renal(120;0.0183) GBM - Glioblastoma multiforme(119;0.0233)|LUSC - Lung squamous cell carcinoma(193;0.131) GATAAATGTCCACAGTGGAAA 0.398 4 45 --- --- --- --- PASS ODZ3 55714 broad.mit.edu 37 4 183664445 183664445 + Missense_Mutation SNP G C C TCGA-43-3394-01A-01D-0983-08 TCGA-43-3394-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx bb72e789-f8ad-4ab5-805b-a9ac21cef0e3 37a26c5a-bbbc-4403-81b3-5c5510ee3432 g.chr4:183664445G>C uc003ivd.1 + 18 3539 c.3502G>C c.(3502-3504)GAT>CAT p.D1168H ODZ3_uc003ive.1_Missense_Mutation_p.D574H NM_001080477 NP_001073946 Q9P273 TEN3_HUMAN odz, odd Oz/ten-m homolog 3 1168 Extracellular (Potential). signal transduction integral to membrane 0 all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184) all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487) TGGTCAAGCTGATGGTAACAA 0.547 24 17 --- --- --- --- PASS FAT1 2195 broad.mit.edu 37 4 187541799 187541799 + Nonsense_Mutation SNP G A A TCGA-43-3394-01A-01D-0983-08 TCGA-43-3394-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx bb72e789-f8ad-4ab5-805b-a9ac21cef0e3 37a26c5a-bbbc-4403-81b3-5c5510ee3432 g.chr4:187541799G>A uc003izf.2 - 10 6129 c.5941C>T c.(5941-5943)CAG>TAG p.Q1981* NM_005245 NP_005236 Q14517 FAT1_HUMAN FAT tumor suppressor 1 precursor 1981 Extracellular (Potential).|Cadherin 18. actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding ovary(10)|central_nervous_system(1)|pancreas(1) 12 TAGACATCCTGGGTAAACTTT 0.433 HNSCC(5;0.00058) 77 60 --- --- --- --- PASS C5orf38 153571 broad.mit.edu 37 5 2752747 2752747 + Nonsense_Mutation SNP C G G TCGA-43-3394-01A-01D-0983-08 TCGA-43-3394-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx bb72e789-f8ad-4ab5-805b-a9ac21cef0e3 37a26c5a-bbbc-4403-81b3-5c5510ee3432 g.chr5:2752747C>G uc003jdc.2 + 2 329 c.212C>G c.(211-213)TCA>TGA p.S71* C5orf38_uc011cmg.1_Nonsense_Mutation_p.S71*|C5orf38_uc011cmh.1_Intron|C5orf38_uc011cmi.1_Intron|C5orf38_uc011cmj.1_Intron NM_178569 NP_848664 Q86SI9 CEI_HUMAN hypothetical protein LOC153571 precursor 71 extracellular region 0 GBM - Glioblastoma multiforme(108;0.205) TTTGTGTTGTCAAAACACTGG 0.507 60 74 --- --- --- --- PASS C1QTNF3 114899 broad.mit.edu 37 5 34024067 34024067 + Missense_Mutation SNP C A A TCGA-43-3394-01A-01D-0983-08 TCGA-43-3394-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx bb72e789-f8ad-4ab5-805b-a9ac21cef0e3 37a26c5a-bbbc-4403-81b3-5c5510ee3432 g.chr5:34024067C>A uc003jin.2 - 5 615 c.528G>T c.(526-528)GAG>GAT p.E176D C1QTNF3_uc003jim.2_Missense_Mutation_p.E56D|C1QTNF3_uc003jio.2_Missense_Mutation_p.E249D NM_030945 NP_112207 Q9BXJ4 C1QT3_HUMAN C1q and tumor necrosis factor related protein 3 176 C1q. collagen 0 all_lung(31;0.0207) CATACACTTCCTCAACATCCT 0.408 5 81 --- --- --- --- PASS HEATR7B2 133558 broad.mit.edu 37 5 40998213 40998213 + Missense_Mutation SNP C A A TCGA-43-3394-01A-01D-0983-08 TCGA-43-3394-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx bb72e789-f8ad-4ab5-805b-a9ac21cef0e3 37a26c5a-bbbc-4403-81b3-5c5510ee3432 g.chr5:40998213C>A uc003jmj.3 - 42 5189 c.4699G>T c.(4699-4701)GCT>TCT p.A1567S HEATR7B2_uc003jmi.3_Missense_Mutation_p.A1122S NM_173489 NP_775760 Q7Z745 HTRB2_HUMAN HEAT repeat family member 7B2 1567 binding ovary(6)|central_nervous_system(2) 8 GCAGCCTCAGCTGCTCTCTGG 0.463 83 257 --- --- --- --- PASS DIMT1L 27292 broad.mit.edu 37 5 61688006 61688006 + Missense_Mutation SNP G T T TCGA-43-3394-01A-01D-0983-08 TCGA-43-3394-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx bb72e789-f8ad-4ab5-805b-a9ac21cef0e3 37a26c5a-bbbc-4403-81b3-5c5510ee3432 g.chr5:61688006G>T uc003jta.2 - 10 913 c.784C>A c.(784-786)CAT>AAT p.H262N NM_014473 NP_055288 Q9UNQ2 DIMT1_HUMAN dimethyladenosine transferase 262 nucleolus RNA binding|rRNA (adenine-N6,N6-)-dimethyltransferase activity central_nervous_system(1) 1 Lung NSC(810;8.94e-06)|Prostate(74;0.0235)|Ovarian(174;0.051)|Breast(144;0.077) Lung(70;0.122) ACAATATTATGGACTGAACAG 0.313 4 37 --- --- --- --- PASS UTP15 84135 broad.mit.edu 37 5 72864310 72864310 + Silent SNP A G G TCGA-43-3394-01A-01D-0983-08 TCGA-43-3394-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx bb72e789-f8ad-4ab5-805b-a9ac21cef0e3 37a26c5a-bbbc-4403-81b3-5c5510ee3432 g.chr5:72864310A>G uc003kcw.1 + 4 472 c.249A>G c.(247-249)GCA>GCG p.A83A UTP15_uc011cso.1_Silent_p.A64A|UTP15_uc011csp.1_5'UTR|UTP15_uc010ize.1_Silent_p.A83A|ANKRA2_uc003kcu.1_5'Flank|ANKRA2_uc003kcv.2_5'Flank NM_032175 NP_115551 Q8TED0 UTP15_HUMAN UTP15, U3 small nucleolar ribonucleoprotein, 83 WD 2. rRNA processing cytoplasm|nucleolus 0 Lung NSC(167;0.00405)|Ovarian(174;0.0129) OV - Ovarian serous cystadenocarcinoma(47;7.76e-55) AAGACACAGCATACTGTGCTA 0.423 36 16 --- --- --- --- PASS ANKRD34B 340120 broad.mit.edu 37 5 79854626 79854626 + Missense_Mutation SNP A G G TCGA-43-3394-01A-01D-0983-08 TCGA-43-3394-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx bb72e789-f8ad-4ab5-805b-a9ac21cef0e3 37a26c5a-bbbc-4403-81b3-5c5510ee3432 g.chr5:79854626A>G uc010jam.2 - 4 1563 c.1213T>C c.(1213-1215)TCA>CCA p.S405P ANKRD34B_uc003kgw.2_Missense_Mutation_p.S405P|ANKRD34B_uc010jan.2_Missense_Mutation_p.S405P NM_001004441 NP_001004441 A5PLL1 AN34B_HUMAN ankyrin repeat domain 34B 405 cytoplasm|nucleus pancreas(1) 1 Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.113) OV - Ovarian serous cystadenocarcinoma(54;2.17e-46)|Epithelial(54;5.64e-41)|all cancers(79;3.24e-36) TTGGACTCTGACAATTGGGAA 0.478 25 14 --- --- --- --- PASS MSH3 4437 broad.mit.edu 37 5 79968171 79968171 + Nonsense_Mutation SNP G T T TCGA-43-3394-01A-01D-0983-08 TCGA-43-3394-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx bb72e789-f8ad-4ab5-805b-a9ac21cef0e3 37a26c5a-bbbc-4403-81b3-5c5510ee3432 g.chr5:79968171G>T uc003kgz.2 + 5 1154 c.901G>T c.(901-903)GGA>TGA p.G301* NM_002439 NP_002430 P20585 MSH3_HUMAN mutS homolog 3 301 maintenance of DNA repeat elements|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|somatic recombination of immunoglobulin gene segments MutSbeta complex|nuclear chromosome ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|enzyme binding|loop DNA binding|Y-form DNA binding lung(2)|ovary(1)|breast(1) 4 Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244) OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33) GGTGGCAAAAGGATATAAGGT 0.433 MMR 7 30 --- --- --- --- PASS APC 324 broad.mit.edu 37 5 112174187 112174187 + Missense_Mutation SNP A G G TCGA-43-3394-01A-01D-0983-08 TCGA-43-3394-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx bb72e789-f8ad-4ab5-805b-a9ac21cef0e3 37a26c5a-bbbc-4403-81b3-5c5510ee3432 g.chr5:112174187A>G uc010jby.2 + 16 3276 c.2896A>G c.(2896-2898)AGT>GGT p.S966G APC_uc011cvt.1_Missense_Mutation_p.S948G|APC_uc003kpz.3_Missense_Mutation_p.S966G|APC_uc003kpy.3_Missense_Mutation_p.S966G|APC_uc010jbz.2_Missense_Mutation_p.S683G|APC_uc010jca.2_Missense_Mutation_p.S266G NM_001127511 NP_001120983 P25054 APC_HUMAN adenomatous polyposis coli 966 Ser-rich.|Responsible for down-regulation through a process mediated by direct ubiquitination. canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity p.?(1)|p.S966R(1) large_intestine(2123)|stomach(123)|soft_tissue(55)|small_intestine(34)|breast(26)|pancreas(25)|urinary_tract(20)|lung(19)|thyroid(18)|liver(13)|central_nervous_system(10)|ovary(9)|skin(7)|upper_aerodigestive_tract(6)|adrenal_gland(6)|bone(6)|NS(5)|prostate(4)|endometrium(3)|kidney(1)|oesophagus(1)|biliary_tract(1) 2515 all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133) OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191) TAGTTTAAATAGTGTCAGTAG 0.328 12 D|Mis|N|F|S colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS Hereditary_Desmoid_Disease|Familial_Adenomatous_Polyposis|Turcot_syndrome TSP Lung(16;0.13) 16 11 --- --- --- --- PASS KCNN2 3781 broad.mit.edu 37 5 113831666 113831666 + Silent SNP C A A TCGA-43-3394-01A-01D-0983-08 TCGA-43-3394-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx bb72e789-f8ad-4ab5-805b-a9ac21cef0e3 37a26c5a-bbbc-4403-81b3-5c5510ee3432 g.chr5:113831666C>A uc003kqo.2 + 8 1984 c.1527C>A c.(1525-1527)ACC>ACA p.T509T KCNN2_uc003kqp.2_Silent_p.T161T|KCNN2_uc010jcg.2_RNA|uc003kqr.1_Intron NM_021614 NP_067627 Q9H2S1 KCNN2_HUMAN small conductance calcium-activated potassium 509 integral to membrane calmodulin binding|small conductance calcium-activated potassium channel activity ovary(2) 2 all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206) OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195) GGATTGTTACCCTGGAAACAA 0.448 36 35 --- --- --- --- PASS SLC27A6 28965 broad.mit.edu 37 5 128320972 128320972 + Missense_Mutation SNP C G G rs142869983 byFrequency TCGA-43-3394-01A-01D-0983-08 TCGA-43-3394-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx bb72e789-f8ad-4ab5-805b-a9ac21cef0e3 37a26c5a-bbbc-4403-81b3-5c5510ee3432 g.chr5:128320972C>G uc003kuy.2 + 3 1024 c.628C>G c.(628-630)CAT>GAT p.H210D SLC27A6_uc003kuz.2_Missense_Mutation_p.H210D NM_014031 NP_054750 Q9Y2P4 S27A6_HUMAN solute carrier family 27 (fatty acid 210 long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process integral to membrane|sarcolemma fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding 0 all_cancers(142;0.0483)|Prostate(80;0.055) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186) ACGCAGCCACCATGTTGTCTC 0.423 17 17 --- --- --- --- PASS ACSL6 23305 broad.mit.edu 37 5 131296315 131296315 + Splice_Site SNP C T T TCGA-43-3394-01A-01D-0983-08 TCGA-43-3394-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx bb72e789-f8ad-4ab5-805b-a9ac21cef0e3 37a26c5a-bbbc-4403-81b3-5c5510ee3432 g.chr5:131296315C>T uc010jdo.1 - 19 1866 c.1783_splice c.e19-1 p.A595_splice ACSL6_uc003kvv.1_Splice_Site|ACSL6_uc003kvx.1_Splice_Site_p.A620_splice|ACSL6_uc003kvy.1_Splice_Site_p.A620_splice|ACSL6_uc003kwb.2_Splice_Site_p.A585_splice|ACSL6_uc003kvz.1_Splice_Site_p.A520_splice|ACSL6_uc003kwa.1_Splice_Site_p.A606_splice|ACSL6_uc003kvw.1_Splice_Site_p.A241_splice|ACSL6_uc010jdn.1_Splice_Site_p.A610_splice NM_015256 NP_056071 Q9UKU0 ACSL6_HUMAN acyl-CoA synthetase long-chain family member 6 fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane|plasma membrane ATP binding|long-chain fatty acid-CoA ligase activity upper_aerodigestive_tract(1)|ovary(1)|skin(1) 3 all_cancers(142;0.107)|Breast(839;0.198)|Lung NSC(810;0.216)|all_lung(232;0.248) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) CCAAAAAGGCCTGCAGTGCTC 0.433 13 13 --- --- --- --- PASS PCDHB5 26167 broad.mit.edu 37 5 140517005 140517005 + Silent SNP C T T TCGA-43-3394-01A-01D-0983-08 TCGA-43-3394-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx bb72e789-f8ad-4ab5-805b-a9ac21cef0e3 37a26c5a-bbbc-4403-81b3-5c5510ee3432 g.chr5:140517005C>T uc003liq.2 + 1 2206 c.1989C>T c.(1987-1989)GAC>GAT p.D663D NM_015669 NP_056484 Q9Y5E4 PCDB5_HUMAN protocadherin beta 5 precursor 663 Cadherin 6.|Extracellular (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding|protein binding skin(3)|ovary(2) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TCCTGGTGGACGGCTTCTCCC 0.716 16 9 --- --- --- --- PASS THG1L 54974 broad.mit.edu 37 5 157159978 157159978 + Silent SNP G A A TCGA-43-3394-01A-01D-0983-08 TCGA-43-3394-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx bb72e789-f8ad-4ab5-805b-a9ac21cef0e3 37a26c5a-bbbc-4403-81b3-5c5510ee3432 g.chr5:157159978G>A uc003lxd.2 + 2 420 c.294G>A c.(292-294)GTG>GTA p.V98V THG1L_uc011ddu.1_5'UTR NM_017872 NP_060342 Q9NWX6 THG1_HUMAN interphase cytoplasmic foci protein 45 98 protein homotetramerization|tRNA modification mitochondrion GTP binding|metal ion binding|tRNA guanylyltransferase activity 0 Renal(175;0.00488) Medulloblastoma(196;0.0523) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) AGGATATTGTGATCGCGTATG 0.448 41 23 --- --- --- --- PASS EBF1 1879 broad.mit.edu 37 5 158522656 158522656 + Missense_Mutation SNP A G G TCGA-43-3394-01A-01D-0983-08 TCGA-43-3394-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx bb72e789-f8ad-4ab5-805b-a9ac21cef0e3 37a26c5a-bbbc-4403-81b3-5c5510ee3432 g.chr5:158522656A>G uc010jip.2 - 4 685 c.383T>C c.(382-384)GTG>GCG p.V128A EBF1_uc011ddw.1_5'UTR|EBF1_uc011ddx.1_Missense_Mutation_p.V128A|EBF1_uc003lxl.3_Missense_Mutation_p.V128A NM_024007 NP_076870 Q9UH73 COE1_HUMAN early B-cell factor 128 multicellular organismal development nucleus DNA binding|metal ion binding HMGA2/EBF1(2) soft_tissue(2)|ovary(1)|central_nervous_system(1)|pancreas(1) 5 Renal(175;0.00196) Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) AATGAGGCGCACGTAGAAATC 0.478 T HMGA2 lipoma 10 22 --- --- --- --- PASS CDHR2 54825 broad.mit.edu 37 5 176011260 176011260 + Nonsense_Mutation SNP G T T TCGA-43-3394-01A-01D-0983-08 TCGA-43-3394-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx bb72e789-f8ad-4ab5-805b-a9ac21cef0e3 37a26c5a-bbbc-4403-81b3-5c5510ee3432 g.chr5:176011260G>T uc003mem.1 + 18 2194 c.2128G>T c.(2128-2130)GGA>TGA p.G710* CDHR2_uc003men.1_Nonsense_Mutation_p.G710* NM_017675 NP_060145 Q9BYE9 CDHR2_HUMAN protocadherin LKC precursor 710 Cadherin 7.|Extracellular (Potential). homophilic cell adhesion|negative regulation of cell growth apical plasma membrane|cell junction|integral to membrane calcium ion binding|protein binding ovary(2) 2 GGAGGATCCAGGTATGTGCTC 0.577 4 32 --- --- --- --- PASS CANX 821 broad.mit.edu 37 5 179155595 179155595 + Missense_Mutation SNP G T T TCGA-43-3394-01A-01D-0983-08 TCGA-43-3394-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx bb72e789-f8ad-4ab5-805b-a9ac21cef0e3 37a26c5a-bbbc-4403-81b3-5c5510ee3432 g.chr5:179155595G>T uc003mkk.2 + 15 1906 c.1729G>T c.(1729-1731)GAT>TAT p.D577Y CANX_uc011dgp.1_Missense_Mutation_p.D612Y|CANX_uc003mkl.2_Missense_Mutation_p.D577Y|CANX_uc011dgq.1_Missense_Mutation_p.D469Y NM_001746 NP_001737 P27824 CALX_HUMAN calnexin precursor 577 Cytoplasmic (Potential). post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|protein secretion endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane|melanosome calcium ion binding|sugar binding|unfolded protein binding 0 all_cancers(89;0.000129)|all_epithelial(37;5.59e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218) all_cancers(40;0.0413)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Reteplase(DB00015)|Tenecteplase(DB00031) TCAATAGGAGGATGAAATTTT 0.343 13 6 --- --- --- --- PASS TRIM15 89870 broad.mit.edu 37 6 30131465 30131465 + Missense_Mutation SNP C T T TCGA-43-3394-01A-01D-0983-08 TCGA-43-3394-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx bb72e789-f8ad-4ab5-805b-a9ac21cef0e3 37a26c5a-bbbc-4403-81b3-5c5510ee3432 g.chr6:30131465C>T uc010jrx.2 + 1 483 c.4C>T c.(4-6)CCC>TCC p.P2S TRIM10_uc003npn.2_5'Flank|TRIM10_uc003npo.3_5'Flank NM_033229 NP_150232 Q9C019 TRI15_HUMAN tripartite motif protein 15 2 mesodermal cell fate determination intracellular zinc ion binding 0 CACCGTGATGCCCGCAACCCC 0.622 5 11 --- --- --- --- PASS TNXB 7148 broad.mit.edu 37 6 32046816 32046816 + Missense_Mutation SNP C T T TCGA-43-3394-01A-01D-0983-08 TCGA-43-3394-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx bb72e789-f8ad-4ab5-805b-a9ac21cef0e3 37a26c5a-bbbc-4403-81b3-5c5510ee3432 g.chr6:32046816C>T uc003nzl.2 - 11 4571 c.4369G>A c.(4369-4371)GTG>ATG p.V1457M NM_019105 NP_061978 P22105 TENX_HUMAN tenascin XB isoform 1 precursor 1544 actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding 0 TCACCTGTCACGCCCACGGCG 0.657 5 22 --- --- --- --- PASS IMPG1 3617 broad.mit.edu 37 6 76744468 76744468 + Missense_Mutation SNP A G G TCGA-43-3394-01A-01D-0983-08 TCGA-43-3394-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx bb72e789-f8ad-4ab5-805b-a9ac21cef0e3 37a26c5a-bbbc-4403-81b3-5c5510ee3432 g.chr6:76744468A>G uc003pik.1 - 3 468 c.338T>C c.(337-339)TTT>TCT p.F113S NM_001563 NP_001554 Q17R60 IMPG1_HUMAN interphotoreceptor matrix proteoglycan 1 113 visual perception proteinaceous extracellular matrix extracellular matrix structural constituent|receptor activity ovary(2)|skin(1) 3 Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222) GCGATCCAGAAAGATCCGATA 0.493 9 43 --- --- --- --- PASS MDN1 23195 broad.mit.edu 37 6 90428865 90428865 + Missense_Mutation SNP T A A TCGA-43-3394-01A-01D-0983-08 TCGA-43-3394-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx bb72e789-f8ad-4ab5-805b-a9ac21cef0e3 37a26c5a-bbbc-4403-81b3-5c5510ee3432 g.chr6:90428865T>A uc003pnn.1 - 41 6163 c.6047A>T c.(6046-6048)TAT>TTT p.Y2016F NM_014611 NP_055426 Q9NU22 MDN1_HUMAN MDN1, midasin homolog 2016 protein complex assembly|regulation of protein complex assembly nucleus ATP binding|ATPase activity|unfolded protein binding ovary(8)|skin(2) 10 all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246) BRCA - Breast invasive adenocarcinoma(108;0.0193) CTGAACATCATAGGGAGTGAT 0.403 11 33 --- --- --- --- PASS AIM1 202 broad.mit.edu 37 6 106967119 106967119 + Missense_Mutation SNP C A A TCGA-43-3394-01A-01D-0983-08 TCGA-43-3394-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx bb72e789-f8ad-4ab5-805b-a9ac21cef0e3 37a26c5a-bbbc-4403-81b3-5c5510ee3432 g.chr6:106967119C>A uc003prh.2 + 2 1299 c.812C>A c.(811-813)ACC>AAC p.T271N NM_001624 NP_001615 Q9Y4K1 AIM1_HUMAN absent in melanoma 1 271 sugar binding breast(4)|ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|skin(1) 9 Breast(9;0.0138)|all_epithelial(6;0.169) all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473) Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305) all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858) AACACTGCCACCAAAATCTCC 0.413 5 46 --- --- --- --- PASS ICA1 3382 broad.mit.edu 37 7 8198264 8198264 + Missense_Mutation SNP G T T TCGA-43-3394-01A-01D-0983-08 TCGA-43-3394-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx bb72e789-f8ad-4ab5-805b-a9ac21cef0e3 37a26c5a-bbbc-4403-81b3-5c5510ee3432 g.chr7:8198264G>T uc003srm.2 - 7 665 c.598C>A c.(598-600)CTT>ATT p.L200I ICA1_uc010ktr.2_Missense_Mutation_p.L200I|ICA1_uc003srl.2_Missense_Mutation_p.L188I|ICA1_uc003srn.3_Missense_Mutation_p.L126I|ICA1_uc003srp.3_Missense_Mutation_p.L199I|ICA1_uc010kts.2_RNA|ICA1_uc003srq.2_Missense_Mutation_p.L200I|ICA1_uc003srr.2_Missense_Mutation_p.L199I|ICA1_uc003sro.3_Missense_Mutation_p.L200I|ICA1_uc011jxg.1_Missense_Mutation_p.L200I|ICA1_uc003srs.1_Missense_Mutation_p.L200I NM_022307 NP_071682 Q05084 ICA69_HUMAN islet cell autoantigen 1 200 AH. neurotransmitter transport cell junction|cytosol|Golgi membrane|nucleus|secretory granule membrane|synaptic vesicle membrane|transport vesicle membrane central_nervous_system(1) 1 Ovarian(82;0.0612) UCEC - Uterine corpus endometrioid carcinoma (126;0.246) TTTTTTGCAAGGCGCACTTGT 0.393 28 33 --- --- --- --- PASS HDAC9 9734 broad.mit.edu 37 7 18767237 18767237 + Missense_Mutation SNP C T T TCGA-43-3394-01A-01D-0983-08 TCGA-43-3394-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx bb72e789-f8ad-4ab5-805b-a9ac21cef0e3 37a26c5a-bbbc-4403-81b3-5c5510ee3432 g.chr7:18767237C>T uc003suh.2 + 12 1798 c.1757C>T c.(1756-1758)TCT>TTT p.S586F HDAC9_uc003sue.2_Missense_Mutation_p.S586F|HDAC9_uc011jyd.1_Missense_Mutation_p.S586F|HDAC9_uc003sui.2_Missense_Mutation_p.S589F|HDAC9_uc003suj.2_Missense_Mutation_p.S545F|HDAC9_uc003sua.1_Missense_Mutation_p.S564F|HDAC9_uc010kue.1_Missense_Mutation_p.S241F NM_058176 NP_478056 Q9UKV0 HDAC9_HUMAN histone deacetylase 9 isoform 1 586 B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity lung(2)|central_nervous_system(2)|kidney(1) 5 all_lung(11;0.187) Valproic Acid(DB00313) CGTGCGCTCTCTGTGCGCCAA 0.542 6 26 --- --- --- --- PASS DNAH11 8701 broad.mit.edu 37 7 21912964 21912964 + Silent SNP A C C TCGA-43-3394-01A-01D-0983-08 TCGA-43-3394-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx bb72e789-f8ad-4ab5-805b-a9ac21cef0e3 37a26c5a-bbbc-4403-81b3-5c5510ee3432 g.chr7:21912964A>C uc003svc.2 + 75 12092 c.12061A>C c.(12061-12063)AGA>CGA p.R4021R NM_003777 NP_003768 Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 4021 AAA 6 (By similarity). microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1) 15 AGGAAGCCACAGAGATTACAG 0.438 Kartagener_syndrome 16 24 --- --- --- --- PASS INHBA 3624 broad.mit.edu 37 7 41739630 41739630 + Missense_Mutation SNP C G G TCGA-43-3394-01A-01D-0983-08 TCGA-43-3394-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx bb72e789-f8ad-4ab5-805b-a9ac21cef0e3 37a26c5a-bbbc-4403-81b3-5c5510ee3432 g.chr7:41739630C>G uc003thq.2 - 1 578 c.343G>C c.(343-345)GAA>CAA p.E115Q LOC285954_uc003tht.3_Intron|INHBA_uc003thr.2_Missense_Mutation_p.E115Q|LOC285954_uc003ths.2_Intron NM_002192 NP_002183 P08476 INHBA_HUMAN inhibin beta A precursor 115 cell cycle arrest|cell surface receptor linked signaling pathway|defense response|erythrocyte differentiation|eyelid development in camera-type eye|G1/S transition of mitotic cell cycle|growth|hair follicle development|hemoglobin biosynthetic process|hemopoietic progenitor cell differentiation|induction of apoptosis|male gonad development|negative regulation of B cell differentiation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|odontogenesis|ovarian follicle development|palate development|positive regulation of erythrocyte differentiation|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation|positive regulation of transcription from RNA polymerase II promoter|progesterone secretion|regulation of activin receptor signaling pathway activin A complex|inhibin A complex cytokine activity|follistatin binding|growth factor activity|hormone activity|identical protein binding|signal transducer activity lung(5)|ovary(1) 6 TCCATAAGTTCATTCATTTCT 0.552 TSP Lung(11;0.080) 21 293 --- --- --- --- PASS ABCA13 154664 broad.mit.edu 37 7 48312439 48312439 + Missense_Mutation SNP A G G TCGA-43-3394-01A-01D-0983-08 TCGA-43-3394-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx bb72e789-f8ad-4ab5-805b-a9ac21cef0e3 37a26c5a-bbbc-4403-81b3-5c5510ee3432 g.chr7:48312439A>G uc003toq.2 + 17 3201 c.3176A>G c.(3175-3177)CAC>CGC p.H1059R ABCA13_uc010kyr.2_Missense_Mutation_p.H562R NM_152701 NP_689914 Q86UQ4 ABCAD_HUMAN ATP binding cassette, sub-family A (ABC1), 1059 transport integral to membrane ATP binding|ATPase activity ovary(5)|central_nervous_system(4)|skin(1) 10 GAAGTGATCCACACTACTTTG 0.373 13 14 --- --- --- --- PASS SEMA3D 223117 broad.mit.edu 37 7 84702397 84702397 + Missense_Mutation SNP T A A TCGA-43-3394-01A-01D-0983-08 TCGA-43-3394-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx bb72e789-f8ad-4ab5-805b-a9ac21cef0e3 37a26c5a-bbbc-4403-81b3-5c5510ee3432 g.chr7:84702397T>A uc003uic.2 - 4 416 c.376A>T c.(376-378)ACA>TCA p.T126S SEMA3D_uc010led.2_Missense_Mutation_p.T126S|SEMA3D_uc010lee.1_Missense_Mutation_p.T126S NM_152754 NP_689967 O95025 SEM3D_HUMAN semaphorin 3D precursor 126 Sema. cell differentiation|nervous system development extracellular region|membrane receptor activity ovary(3)|large_intestine(2) 5 GCACATTCTGTCTGTTGGGCA 0.333 9 29 --- --- --- --- PASS HBP1 26959 broad.mit.edu 37 7 106830702 106830702 + Missense_Mutation SNP C T T TCGA-43-3394-01A-01D-0983-08 TCGA-43-3394-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx bb72e789-f8ad-4ab5-805b-a9ac21cef0e3 37a26c5a-bbbc-4403-81b3-5c5510ee3432 g.chr7:106830702C>T uc003vdy.2 + 8 1193 c.1007C>T c.(1006-1008)CCT>CTT p.P336L HBP1_uc011klv.1_Missense_Mutation_p.P346L|HBP1_uc003vdz.2_Missense_Mutation_p.P336L|HBP1_uc003vea.2_Missense_Mutation_p.P336L|HBP1_uc003veb.1_Missense_Mutation_p.P336L NM_012257 NP_036389 O60381 HBP1_HUMAN HMG-box transcription factor 1 336 AXH. cell cycle arrest|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway nucleus DNA binding skin(1) 1 GTATGTCTACCTCCTGGACAC 0.348 70 98 --- --- --- --- PASS CBLL1 79872 broad.mit.edu 37 7 107399420 107399420 + Missense_Mutation SNP A G G TCGA-43-3394-01A-01D-0983-08 TCGA-43-3394-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx bb72e789-f8ad-4ab5-805b-a9ac21cef0e3 37a26c5a-bbbc-4403-81b3-5c5510ee3432 g.chr7:107399420A>G uc003veq.2 + 6 1603 c.1273A>G c.(1273-1275)AAT>GAT p.N425D CBLL1_uc011kme.1_Missense_Mutation_p.N304D|CBLL1_uc011kmf.1_Missense_Mutation_p.N424D NM_024814 NP_079090 Q75N03 HAKAI_HUMAN Cas-Br-M (murine) ecotropic retroviral 425 Pro-rich. cell-cell adhesion|negative regulation of cell adhesion|positive regulation of cell migration|positive regulation of endocytosis protein binding|ubiquitin-protein ligase activity|zinc ion binding ovary(2)|skin(2)|lung(1) 5 TCACCATTATAATCCTAACTC 0.507 49 111 --- --- --- --- PASS LAMB4 22798 broad.mit.edu 37 7 107756483 107756483 + Missense_Mutation SNP C G G TCGA-43-3394-01A-01D-0983-08 TCGA-43-3394-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx bb72e789-f8ad-4ab5-805b-a9ac21cef0e3 37a26c5a-bbbc-4403-81b3-5c5510ee3432 g.chr7:107756483C>G uc010ljo.1 - 3 242 c.158G>C c.(157-159)AGA>ACA p.R53T LAMB4_uc003vey.2_Missense_Mutation_p.R53T NM_007356 NP_031382 A4D0S4 LAMB4_HUMAN laminin, beta 4 precursor 53 Laminin N-terminal. cell adhesion basement membrane ovary(4)|breast(2)|large_intestine(1)|skin(1) 8 TTTCTGGGCTCTGCTCAGCCC 0.493 34 63 --- --- --- --- PASS PRSS37 136242 broad.mit.edu 37 7 141536910 141536910 + Splice_Site SNP A T T TCGA-43-3394-01A-01D-0983-08 TCGA-43-3394-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx bb72e789-f8ad-4ab5-805b-a9ac21cef0e3 37a26c5a-bbbc-4403-81b3-5c5510ee3432 g.chr7:141536910A>T uc003vws.1 - 4 939 c.567_splice c.e4+1 p.G189_splice PRSS37_uc011krk.1_Splice_Site_p.G176_splice|PRSS37_uc011krl.1_Splice_Site_p.G188_splice|PRSS37_uc003vwt.1_Splice_Site_p.G176_splice NM_001008270 NP_001008271 A4D1T9 PRS37_HUMAN protease, serine, 37 precursor proteolysis extracellular region serine-type endopeptidase activity skin(1) 1 AGATAAGATTACCCCAAAAAT 0.328 28 36 --- --- --- --- PASS OR2A14 135941 broad.mit.edu 37 7 143826669 143826669 + Missense_Mutation SNP C A A TCGA-43-3394-01A-01D-0983-08 TCGA-43-3394-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx bb72e789-f8ad-4ab5-805b-a9ac21cef0e3 37a26c5a-bbbc-4403-81b3-5c5510ee3432 g.chr7:143826669C>A uc011kua.1 + 1 464 c.464C>A c.(463-465)GCT>GAT p.A155D NM_001001659 NP_001001659 Q96R47 O2A14_HUMAN olfactory receptor, family 2, subfamily A, 155 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 Melanoma(164;0.0783) TTCCTCCTGGCTCTGGTCCCT 0.537 10 229 --- --- --- --- PASS PTK2B 2185 broad.mit.edu 37 8 27315846 27315846 + Silent SNP G T T TCGA-43-3394-01A-01D-0983-08 TCGA-43-3394-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx bb72e789-f8ad-4ab5-805b-a9ac21cef0e3 37a26c5a-bbbc-4403-81b3-5c5510ee3432 g.chr8:27315846G>T uc003xfn.1 + 36 3658 c.2850G>T c.(2848-2850)CTG>CTT p.L950L PTK2B_uc003xfo.1_Silent_p.L950L|PTK2B_uc003xfp.1_Silent_p.L950L|PTK2B_uc003xfq.1_Silent_p.L908L NM_173174 NP_775266 Q14289 FAK2_HUMAN PTK2B protein tyrosine kinase 2 beta isoform a 950 Focal adhesion targeting (FAT).|Interaction with TGFB1I1 (By similarity). apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly cytosol ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity lung(3)|ovary(1)|skin(1) 5 Ovarian(32;2.72e-05) UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229) ACAAAGACCTGGCAGAGCTCA 0.557 9 7 --- --- --- --- PASS CSMD3 114788 broad.mit.edu 37 8 113418786 113418786 + Missense_Mutation SNP C A A TCGA-43-3394-01A-01D-0983-08 TCGA-43-3394-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx bb72e789-f8ad-4ab5-805b-a9ac21cef0e3 37a26c5a-bbbc-4403-81b3-5c5510ee3432 g.chr8:113418786C>A uc003ynu.2 - 35 5935 c.5776G>T c.(5776-5778)GCC>TCC p.A1926S CSMD3_uc003yns.2_Missense_Mutation_p.A1128S|CSMD3_uc003ynt.2_Missense_Mutation_p.A1886S|CSMD3_uc011lhx.1_Missense_Mutation_p.A1822S NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 1926 Sushi 10.|Extracellular (Potential). integral to membrane|plasma membrane ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1) 63 TTCCACTGGGCCAAAGAATTG 0.343 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 4 40 --- --- --- --- PASS ATAD2 29028 broad.mit.edu 37 8 124340506 124340506 + Missense_Mutation SNP C G G TCGA-43-3394-01A-01D-0983-08 TCGA-43-3394-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx bb72e789-f8ad-4ab5-805b-a9ac21cef0e3 37a26c5a-bbbc-4403-81b3-5c5510ee3432 g.chr8:124340506C>G uc003yqh.3 - 25 3900 c.3792G>C c.(3790-3792)TTG>TTC p.L1264F ATAD2_uc011lii.1_Missense_Mutation_p.L1055F|ATAD2_uc003yqi.3_RNA NM_014109 NP_054828 Q6PL18 ATAD2_HUMAN ATPase family, AAA domain containing 2 1264 regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrion|nucleus ATP binding|ATPase activity ovary(2) 2 Lung NSC(37;1.25e-09)|Ovarian(258;0.00838) STAD - Stomach adenocarcinoma(47;0.00288) TCTTGTCTCTCAATTCTGTAC 0.328 6 31 --- --- --- --- PASS FREM1 158326 broad.mit.edu 37 9 14823222 14823222 + Missense_Mutation SNP C T T TCGA-43-3394-01A-01D-0983-08 TCGA-43-3394-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx bb72e789-f8ad-4ab5-805b-a9ac21cef0e3 37a26c5a-bbbc-4403-81b3-5c5510ee3432 g.chr9:14823222C>T uc003zlm.2 - 13 2863 c.2273G>A c.(2272-2274)GGC>GAC p.G758D FREM1_uc010mic.2_RNA NM_144966 NP_659403 Q5H8C1 FREM1_HUMAN FRAS1 related extracellular matrix 1 precursor 758 CSPG 4. cell communication|multicellular organismal development basement membrane|integral to membrane metal ion binding|sugar binding ovary(2)|breast(2)|pancreas(1) 5 GBM - Glioblastoma multiforme(50;3.53e-06) CAAAGTACCGCCATGTTGGTT 0.443 55 33 --- --- --- --- PASS C9orf79 286234 broad.mit.edu 37 9 90500689 90500689 + Silent SNP G A A TCGA-43-3394-01A-01D-0983-08 TCGA-43-3394-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx bb72e789-f8ad-4ab5-805b-a9ac21cef0e3 37a26c5a-bbbc-4403-81b3-5c5510ee3432 g.chr9:90500689G>A uc004app.3 + 4 1322 c.1287G>A c.(1285-1287)GGG>GGA p.G429G C9orf79_uc004apo.1_Silent_p.G241G NM_178828 NP_849150 Q6ZUB1 CI079_HUMAN chromosome 9 open reading frame 79 429 integral to membrane ovary(3) 3 CAACCGTGGGGAACCACTTAC 0.572 31 75 --- --- --- --- PASS FAM125B 89853 broad.mit.edu 37 9 129184187 129184187 + Silent SNP G A A TCGA-43-3394-01A-01D-0983-08 TCGA-43-3394-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx bb72e789-f8ad-4ab5-805b-a9ac21cef0e3 37a26c5a-bbbc-4403-81b3-5c5510ee3432 g.chr9:129184187G>A uc004bqh.1 + 7 798 c.717G>A c.(715-717)ACG>ACA p.T239T FAM125B_uc011lzy.1_Silent_p.T224T|FAM125B_uc010mxd.2_Silent_p.T232T NM_033446 NP_258257 Q9H7P6 F125B_HUMAN hypothetical protein LOC89853 isoform 1 239 protein transport late endosome membrane 0 GCACCCGGACGGACTACGAGT 0.562 33 64 --- --- --- --- PASS GARNL3 84253 broad.mit.edu 37 9 130145740 130145740 + Missense_Mutation SNP T C C TCGA-43-3394-01A-01D-0983-08 TCGA-43-3394-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx bb72e789-f8ad-4ab5-805b-a9ac21cef0e3 37a26c5a-bbbc-4403-81b3-5c5510ee3432 g.chr9:130145740T>C uc011mae.1 + 23 2586 c.2185T>C c.(2185-2187)TGC>CGC p.C729R GARNL3_uc011mad.1_Missense_Mutation_p.C707R|GARNL3_uc010mxi.2_5'UTR NM_032293 NP_115669 Q5VVW2 GARL3_HUMAN GTPase activating Rap/RanGAP domain-like 3 729 CNH. regulation of small GTPase mediated signal transduction intracellular GTPase activator activity|small GTPase regulator activity ovary(1)|central_nervous_system(1)|skin(1) 3 TAAAAAGGTTTGCCCCTTTAA 0.373 11 10 --- --- --- --- PASS RXRA 6256 broad.mit.edu 37 9 137300876 137300876 + Missense_Mutation SNP A T T TCGA-43-3394-01A-01D-0983-08 TCGA-43-3394-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx bb72e789-f8ad-4ab5-805b-a9ac21cef0e3 37a26c5a-bbbc-4403-81b3-5c5510ee3432 g.chr9:137300876A>T uc004cfb.2 + 4 683 c.521A>T c.(520-522)AAC>ATC p.N174I RXRA_uc004cfc.1_Missense_Mutation_p.N77I NM_002957 NP_002948 P19793 RXRA_HUMAN retinoid X receptor, alpha 174 NR C4-type.|Nuclear receptor. cellular lipid metabolic process|cholesterol metabolic process|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid|vitamin metabolic process nuclear chromatin|nucleoplasm enzyme binding|ligand-regulated transcription factor activity|protein heterodimerization activity|retinoic acid-responsive element binding|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|transcription coactivator activity|vitamin D receptor binding|zinc ion binding upper_aerodigestive_tract(1)|ovary(1) 2 OV - Ovarian serous cystadenocarcinoma(145;4.66e-08)|Epithelial(140;6.72e-08)|all cancers(34;2.22e-07) Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926) TGCCGCGACAACAAGGACTGC 0.622 17 43 --- --- --- --- PASS LCN6 158062 broad.mit.edu 37 9 139641878 139641878 + Missense_Mutation SNP G T T rs150825099 byFrequency TCGA-43-3394-01A-01D-0983-08 TCGA-43-3394-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx bb72e789-f8ad-4ab5-805b-a9ac21cef0e3 37a26c5a-bbbc-4403-81b3-5c5510ee3432 g.chr9:139641878G>T uc004ciy.2 - 2 273 c.228C>A c.(226-228)CAC>CAA p.H76Q LCN10_uc004ciw.2_RNA|uc004ciz.1_RNA NM_198946 NP_945184 P62502 LCN6_HUMAN lipocalin 6 precursor 76 single fertilization extracellular region binding 0 all_cancers(76;0.0882)|all_epithelial(76;0.228) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.32e-06)|Epithelial(140;7.83e-05) CCACTCACCCGTGCTGAGAGG 0.627 13 12 --- --- --- --- PASS NRG3 10718 broad.mit.edu 37 10 84745280 84745280 + Silent SNP G T T TCGA-43-3394-01A-01D-0983-08 TCGA-43-3394-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx bb72e789-f8ad-4ab5-805b-a9ac21cef0e3 37a26c5a-bbbc-4403-81b3-5c5510ee3432 g.chr10:84745280G>T uc001kco.2 + 9 2037 c.2010G>T c.(2008-2010)CTG>CTT p.L670L NRG3_uc010qlz.1_Silent_p.L669L|NRG3_uc001kcp.2_Silent_p.L473L|NRG3_uc001kcq.2_Silent_p.L320L|NRG3_uc001kcr.2_Silent_p.L344L NM_001010848 NP_001010848 P56975 NRG3_HUMAN neuregulin 3 isoform 1 694 Cytoplasmic (Potential). regulation of cell growth extracellular region|integral to plasma membrane growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity lung(5)|breast(1) 6 GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09) TTCTCCCCCTGAGTCCCACAG 0.478 15 37 --- --- --- --- PASS PIK3AP1 118788 broad.mit.edu 37 10 98386609 98386609 + Missense_Mutation SNP C T T TCGA-43-3394-01A-01D-0983-08 TCGA-43-3394-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx bb72e789-f8ad-4ab5-805b-a9ac21cef0e3 37a26c5a-bbbc-4403-81b3-5c5510ee3432 g.chr10:98386609C>T uc001kmq.2 - 10 1653 c.1525G>A c.(1525-1527)GAA>AAA p.E509K PIK3AP1_uc001kmo.2_Missense_Mutation_p.E108K|PIK3AP1_uc001kmp.2_Missense_Mutation_p.E331K NM_152309 NP_689522 Q6ZUJ8 BCAP_HUMAN phosphoinositide-3-kinase adaptor protein 1 509 cytoplasm|plasma membrane upper_aerodigestive_tract(3)|ovary(1)|skin(1) 5 Colorectal(252;0.0442) Epithelial(162;6.29e-08)|all cancers(201;3.18e-06) ACATCTTCTTCCTGACCAAGA 0.537 13 33 --- --- --- --- PASS PDZD7 79955 broad.mit.edu 37 10 102781698 102781698 + Missense_Mutation SNP C A A TCGA-43-3394-01A-01D-0983-08 TCGA-43-3394-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx bb72e789-f8ad-4ab5-805b-a9ac21cef0e3 37a26c5a-bbbc-4403-81b3-5c5510ee3432 g.chr10:102781698C>A uc001kso.1 - 6 939 c.724G>T c.(724-726)GAC>TAC p.D242Y PDZD7_uc001ksn.2_Missense_Mutation_p.D242Y NM_024895 NP_079171 Q9H5P4 PDZD7_HUMAN PDZ domain containing 7 242 PDZ 2. cilium|nucleus protein binding ovary(1)|breast(1)|central_nervous_system(1) 3 Epithelial(162;6.98e-09)|all cancers(201;3.55e-07) CCACCATGGTCCACTCTGAGG 0.627 6 19 --- --- --- --- PASS OR56B1 387748 broad.mit.edu 37 11 5758307 5758307 + Silent SNP G T T TCGA-43-3394-01A-01D-0983-08 TCGA-43-3394-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx bb72e789-f8ad-4ab5-805b-a9ac21cef0e3 37a26c5a-bbbc-4403-81b3-5c5510ee3432 g.chr11:5758307G>T uc001mbt.1 + 1 561 c.561G>T c.(559-561)CTG>CTT p.L187L TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.1_Intron|OR56B1_uc001mbs.1_Silent_p.L187L|OR56B1_uc009yev.1_Silent_p.L187L NM_001005180 NP_001005180 Q8NGI3 O56B1_HUMAN olfactory receptor, family 56, subfamily B, 187 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|skin(1) 2 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.086) Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.184) AACACTGCCTGTGCTCTAACC 0.498 6 38 --- --- --- --- PASS OR52E6 390078 broad.mit.edu 37 11 5862830 5862830 + Missense_Mutation SNP G T T TCGA-43-3394-01A-01D-0983-08 TCGA-43-3394-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx bb72e789-f8ad-4ab5-805b-a9ac21cef0e3 37a26c5a-bbbc-4403-81b3-5c5510ee3432 g.chr11:5862830G>T uc010qzq.1 - 1 298 c.298C>A c.(298-300)CTT>ATT p.L100I TRIM5_uc001mbq.1_Intron NM_001005167 NP_001005167 Q96RD3 O52E6_HUMAN olfactory receptor, family 52, subfamily E, 100 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1) 1 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;2.55e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) ATCTGAGAAAGGTAGCCTCCA 0.453 27 116 --- --- --- --- PASS NLRP10 338322 broad.mit.edu 37 11 7982580 7982580 + Silent SNP A G G TCGA-43-3394-01A-01D-0983-08 TCGA-43-3394-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx bb72e789-f8ad-4ab5-805b-a9ac21cef0e3 37a26c5a-bbbc-4403-81b3-5c5510ee3432 g.chr11:7982580A>G uc001mfv.1 - 2 596 c.579T>C c.(577-579)GGT>GGC p.G193G NM_176821 NP_789791 Q86W26 NAL10_HUMAN NLR family, pyrin domain containing 10 193 NACHT. ATP binding lung(4)|ovary(2)|pancreas(1)|kidney(1)|skin(1) 9 Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189) GGTACAGAGTACCGGTGGCCC 0.527 8 13 --- --- --- --- PASS ALKBH3 221120 broad.mit.edu 37 11 43923170 43923170 + Silent SNP G A A TCGA-43-3394-01A-01D-0983-08 TCGA-43-3394-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx bb72e789-f8ad-4ab5-805b-a9ac21cef0e3 37a26c5a-bbbc-4403-81b3-5c5510ee3432 g.chr11:43923170G>A uc001mxs.2 + 8 1007 c.564G>A c.(562-564)GTG>GTA p.V188V ALKBH3_uc009ykp.2_RNA|ALKBH3_uc001mxt.2_RNA|ALKBH3_uc009ykq.2_Silent_p.V41V NM_139178 NP_631917 Q96Q83 ALKB3_HUMAN AlkB homolog 3 188 Fe2OG dioxygenase. DNA dealkylation involved in DNA repair|oxidative single-stranded DNA demethylation mitochondrion|nucleoplasm damaged DNA binding|DNA-N1-methyladenine dioxygenase activity|ferrous iron binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen 0 Vitamin C(DB00126) AGGACAGCGTGGACTGGCACA 0.493 Direct_reversal_of_damage 28 47 --- --- --- --- PASS OR4S2 219431 broad.mit.edu 37 11 55418886 55418886 + Silent SNP C T T TCGA-43-3394-01A-01D-0983-08 TCGA-43-3394-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx bb72e789-f8ad-4ab5-805b-a9ac21cef0e3 37a26c5a-bbbc-4403-81b3-5c5510ee3432 g.chr11:55418886C>T uc001nhs.1 + 1 507 c.507C>T c.(505-507)CCC>CCT p.P169P NM_001004059 NP_001004059 Q8NH73 OR4S2_HUMAN olfactory receptor, family 4, subfamily S, 169 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|ovary(1) 3 all_epithelial(135;0.0748) TTTGTGGACCCAATGAGATAG 0.443 51 72 --- --- --- --- PASS AHNAK 79026 broad.mit.edu 37 11 62301162 62301162 + Nonsense_Mutation SNP T A A TCGA-43-3394-01A-01D-0983-08 TCGA-43-3394-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx bb72e789-f8ad-4ab5-805b-a9ac21cef0e3 37a26c5a-bbbc-4403-81b3-5c5510ee3432 g.chr11:62301162T>A uc001ntl.2 - 5 1027 c.727A>T c.(727-729)AAG>TAG p.K243* AHNAK_uc001ntk.1_Intron NM_001620 NP_001611 Q09666 AHNK_HUMAN AHNAK nucleoprotein isoform 1 243 nervous system development nucleus protein binding ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1) 19 Melanoma(852;0.155) ACCTGGAGCTTCGAGTGGCCA 0.607 14 49 --- --- --- --- PASS PCNXL3 399909 broad.mit.edu 37 11 65402891 65402891 + Missense_Mutation SNP G A A TCGA-43-3394-01A-01D-0983-08 TCGA-43-3394-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx bb72e789-f8ad-4ab5-805b-a9ac21cef0e3 37a26c5a-bbbc-4403-81b3-5c5510ee3432 g.chr11:65402891G>A uc001oey.2 + 31 5156 c.5156G>A c.(5155-5157)CGG>CAG p.R1719Q PCNXL3_uc001oez.2_Missense_Mutation_p.R606Q NM_032223 NP_115599 Q9H6A9 PCX3_HUMAN pecanex-like 3 1719 integral to membrane 0 ATGCTCAACCGGCGCCACCTC 0.667 6 13 --- --- --- --- PASS GDPD5 81544 broad.mit.edu 37 11 75160079 75160079 + Missense_Mutation SNP C A A TCGA-43-3394-01A-01D-0983-08 TCGA-43-3394-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx bb72e789-f8ad-4ab5-805b-a9ac21cef0e3 37a26c5a-bbbc-4403-81b3-5c5510ee3432 g.chr11:75160079C>A uc001owo.3 - 10 1194 c.657G>T c.(655-657)ATG>ATT p.M219I GDPD5_uc001owp.3_Missense_Mutation_p.M219I|GDPD5_uc001own.3_5'UTR|GDPD5_uc009yuc.2_Missense_Mutation_p.M81I|GDPD5_uc009yud.2_Missense_Mutation_p.M100I|GDPD5_uc009yue.1_Missense_Mutation_p.M107I NM_030792 NP_110419 Q8WTR4 GDPD5_HUMAN glycerophosphodiester phosphodiesterase domain 219 Extracellular (Potential). glycerol metabolic process|lipid metabolic process|nervous system development endomembrane system|growth cone|integral to membrane|perinuclear region of cytoplasm glycerophosphodiester phosphodiesterase activity ovary(1) 1 CTTTCTTCTCCATGATGCAGG 0.617 5 8 --- --- --- --- PASS MED17 9440 broad.mit.edu 37 11 93528152 93528152 + Missense_Mutation SNP G A A TCGA-43-3394-01A-01D-0983-08 TCGA-43-3394-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx bb72e789-f8ad-4ab5-805b-a9ac21cef0e3 37a26c5a-bbbc-4403-81b3-5c5510ee3432 g.chr11:93528152G>A uc001pem.3 + 6 1213 c.938G>A c.(937-939)CGG>CAG p.R313Q NM_004268 NP_004259 Q9NVC6 MED17_HUMAN mediator complex subunit 17 313 androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex|transcription factor complex ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding ovary(1) 1 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) CAGCTCTCTCGGGAAGCTGTT 0.403 8 57 --- --- --- --- PASS FAM55D 54827 broad.mit.edu 37 11 114465423 114465423 + Missense_Mutation SNP G T T TCGA-43-3394-01A-01D-0983-08 TCGA-43-3394-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx bb72e789-f8ad-4ab5-805b-a9ac21cef0e3 37a26c5a-bbbc-4403-81b3-5c5510ee3432 g.chr11:114465423G>T uc001ppc.2 - 2 240 c.59C>A c.(58-60)TCC>TAC p.S20Y FAM55D_uc001ppd.2_5'UTR NM_001077639 NP_001071107 Q6UWF7 FA55D_HUMAN hypothetical protein LOC54827 isoform 1 20 extracellular region ovary(2)|skin(2) 4 all_cancers(61;8.53e-16)|all_epithelial(67;1.71e-08)|all_hematologic(158;3.05e-05)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0194)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906) BRCA - Breast invasive adenocarcinoma(274;2.82e-06)|Epithelial(105;0.000129)|all cancers(92;0.000938) AATGATCCAGGAGGCTAATAT 0.299 20 46 --- --- --- --- PASS DSCAML1 57453 broad.mit.edu 37 11 117335863 117335863 + Silent SNP C G G TCGA-43-3394-01A-01D-0983-08 TCGA-43-3394-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx bb72e789-f8ad-4ab5-805b-a9ac21cef0e3 37a26c5a-bbbc-4403-81b3-5c5510ee3432 g.chr11:117335863C>G uc001prh.1 - 17 3242 c.3240G>C c.(3238-3240)CGG>CGC p.R1080R NM_020693 NP_065744 Q8TD84 DSCL1_HUMAN Down syndrome cell adhesion molecule like 1 1020 Extracellular (Potential).|Fibronectin type-III 2. axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion cell surface|integral to membrane|plasma membrane protein homodimerization activity ovary(3)|large_intestine(2)|skin(2)|upper_aerodigestive_tract(1) 8 all_hematologic(175;0.0487) Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232) BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172) TCTGGTAGCCCCGGATGACAC 0.527 7 38 --- --- --- --- PASS OR4D5 219875 broad.mit.edu 37 11 123810699 123810699 + Missense_Mutation SNP A G G TCGA-43-3394-01A-01D-0983-08 TCGA-43-3394-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx bb72e789-f8ad-4ab5-805b-a9ac21cef0e3 37a26c5a-bbbc-4403-81b3-5c5510ee3432 g.chr11:123810699A>G uc001pzk.1 + 1 376 c.376A>G c.(376-378)ATT>GTT p.I126V NM_001001965 NP_001001965 Q8NGN0 OR4D5_HUMAN olfactory receptor, family 4, subfamily D, 126 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 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;0.0399) CTACATTGCCATTTCCCAGCC 0.512 29 38 --- --- --- --- PASS DCP1B 196513 broad.mit.edu 37 12 2055431 2055431 + Missense_Mutation SNP T C C TCGA-43-3394-01A-01D-0983-08 TCGA-43-3394-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx bb72e789-f8ad-4ab5-805b-a9ac21cef0e3 37a26c5a-bbbc-4403-81b3-5c5510ee3432 g.chr12:2055431T>C uc001qjx.1 - 9 1875 c.1795A>G c.(1795-1797)ATA>GTA p.I599V DCP1B_uc010sdy.1_Missense_Mutation_p.I497V NM_152640 NP_689853 Q8IZD4 DCP1B_HUMAN decapping enzyme Dcp1b 599 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay cytosol|nucleus hydrolase activity|protein binding skin(1) 1 OV - Ovarian serous cystadenocarcinoma(31;0.00193) TCATAGATTATATTTAAGAAG 0.388 32 7 --- --- --- --- PASS C12orf59 120939 broad.mit.edu 37 12 10337966 10337966 + Missense_Mutation SNP T C C TCGA-43-3394-01A-01D-0983-08 TCGA-43-3394-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx bb72e789-f8ad-4ab5-805b-a9ac21cef0e3 37a26c5a-bbbc-4403-81b3-5c5510ee3432 g.chr12:10337966T>C uc001qxr.2 + 3 753 c.136T>C c.(136-138)TGG>CGG p.W46R C12orf59_uc001qxq.2_Missense_Mutation_p.W26R Q4KMG9 CL059_HUMAN RecName: Full=Uncharacterized protein C12orf59; Flags: Precursor; 46 Helical; (Potential). integral to membrane ovary(1) 1 CTGGTATATATGGTAAGTTTC 0.348 16 78 --- --- --- --- PASS ETV6 2120 broad.mit.edu 37 12 12022436 12022436 + Missense_Mutation SNP G T T rs150089916 TCGA-43-3394-01A-01D-0983-08 TCGA-43-3394-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx bb72e789-f8ad-4ab5-805b-a9ac21cef0e3 37a26c5a-bbbc-4403-81b3-5c5510ee3432 g.chr12:12022436G>T uc001qzz.2 + 5 816 c.542G>T c.(541-543)CGC>CTC p.R181L ETV6_uc001raa.1_5'UTR NM_001987 NP_001978 P41212 ETV6_HUMAN ets variant 6 181 cytoplasm|nucleolus protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ETV6/NTRK3(234)|ETV6/JAK2(11) soft_tissue(85)|kidney(66)|breast(55)|salivary_gland(26)|haematopoietic_and_lymphoid_tissue(13)|ovary(2)|upper_aerodigestive_tract(1)|skin(1)|pancreas(1) 250 all_cancers(2;1.88e-12)|Acute lymphoblastic leukemia(2;6.91e-39)|all_hematologic(2;2.7e-36) CTGTTGCACCGCTCCAGGTCA 0.607 T NTRK3|RUNX1|PDGFRB|ABL1|MN1|ABL2|FACL6|CHIC2|ARNT|JAK2|EVI1|CDX2|STL|HLXB9|MDS2|PER1|SYK|TTL|FGFR3|PAX5 congenital fibrosarcoma|multiple leukemia and lymphoma| secretory breast|MDS|ALL 52 284 --- --- --- --- PASS SLCO1B1 10599 broad.mit.edu 37 12 21331930 21331930 + Missense_Mutation SNP G T T rs147421160 TCGA-43-3394-01A-01D-0983-08 TCGA-43-3394-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx bb72e789-f8ad-4ab5-805b-a9ac21cef0e3 37a26c5a-bbbc-4403-81b3-5c5510ee3432 g.chr12:21331930G>T uc001req.3 + 7 807 c.703G>T c.(703-705)GTG>TTG p.V235L NM_006446 NP_006437 Q9Y6L6 SO1B1_HUMAN solute carrier organic anion transporter family, 235 Helical; Name=5; (Potential). bile acid metabolic process|sodium-independent organic anion transport basolateral plasma membrane|integral to plasma membrane|membrane fraction bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity ovary(3)|skin(3)|pancreas(1)|central_nervous_system(1) 8 Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175) TAAAATGTACGTGGATATTGG 0.328 76 58 --- --- --- --- PASS KIF21A 55605 broad.mit.edu 37 12 39751147 39751147 + Silent SNP A T T TCGA-43-3394-01A-01D-0983-08 TCGA-43-3394-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx bb72e789-f8ad-4ab5-805b-a9ac21cef0e3 37a26c5a-bbbc-4403-81b3-5c5510ee3432 g.chr12:39751147A>T uc001rly.2 - 9 1454 c.1308T>A c.(1306-1308)CGT>CGA p.R436R KIF21A_uc001rlx.2_Silent_p.R436R|KIF21A_uc001rlz.2_Silent_p.R436R|KIF21A_uc010skl.1_Silent_p.R436R|KIF21A_uc001rma.1_Silent_p.R444R NM_017641 NP_060111 Q7Z4S6 KI21A_HUMAN kinesin family member 21A 436 Potential. microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity ovary(4)|pancreas(1)|lung(1)|skin(1) 7 Lung NSC(34;0.179)|all_lung(34;0.213) TAATTCTTACACGCAGGTTAT 0.408 14 147 --- --- --- --- PASS ADAMTS20 80070 broad.mit.edu 37 12 43824220 43824220 + Nonsense_Mutation SNP C A A TCGA-43-3394-01A-01D-0983-08 TCGA-43-3394-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx bb72e789-f8ad-4ab5-805b-a9ac21cef0e3 37a26c5a-bbbc-4403-81b3-5c5510ee3432 g.chr12:43824220C>A uc010skx.1 - 23 3316 c.3316G>T c.(3316-3318)GAG>TAG p.E1106* ADAMTS20_uc001rno.1_Nonsense_Mutation_p.E260*|ADAMTS20_uc001rnp.1_Nonsense_Mutation_p.E260* NM_025003 NP_079279 P59510 ATS20_HUMAN a disintegrin-like and metalloprotease with 1106 TSP type-1 6. proteinaceous extracellular matrix zinc ion binding central_nervous_system(5)|ovary(4)|lung(3)|large_intestine(2)|skin(2)|urinary_tract(1)|kidney(1)|pancreas(1) 19 all_cancers(12;2.6e-05)|Lung SC(27;0.184) Lung NSC(34;0.0569)|all_lung(34;0.129) GBM - Glioblastoma multiforme(48;0.0473) CTAGCTAGCTCATTGACACAT 0.383 63 36 --- --- --- --- PASS MLL2 8085 broad.mit.edu 37 12 49431879 49431879 + Missense_Mutation SNP C A A TCGA-43-3394-01A-01D-0983-08 TCGA-43-3394-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx bb72e789-f8ad-4ab5-805b-a9ac21cef0e3 37a26c5a-bbbc-4403-81b3-5c5510ee3432 g.chr12:49431879C>A uc001rta.3 - 34 9260 c.9260G>T c.(9259-9261)CGG>CTG p.R3087L NM_003482 NP_003473 O14686 MLL2_HUMAN myeloid/lymphoid or mixed-lineage leukemia 2 3087 chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent histone methyltransferase complex histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2) 41 CTCCACCCCCCGCAGCAGGGC 0.627 N|F|Mis medulloblastoma|renal HNSCC(34;0.089) 15 15 --- --- --- --- PASS KRT81 3887 broad.mit.edu 37 12 52681085 52681085 + Missense_Mutation SNP C A A TCGA-43-3394-01A-01D-0983-08 TCGA-43-3394-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx bb72e789-f8ad-4ab5-805b-a9ac21cef0e3 37a26c5a-bbbc-4403-81b3-5c5510ee3432 g.chr12:52681085C>A uc001sab.2 - 7 1098 c.1048G>T c.(1048-1050)GTG>TTG p.V350L KRT86_uc010snq.1_Intron|KRT86_uc009zmg.2_Intron|KRT81_uc001sac.2_5'UTR NM_002281 NP_002272 Q14533 KRT81_HUMAN keratin, hair, basic, 1 350 Rod.|Coil 2. keratin filament protein binding|structural molecule activity 0 BRCA - Breast invasive adenocarcinoma(357;0.189) GACTGGGCCACCGCGGCCTCC 0.607 5 17 --- --- --- --- PASS CSAD 51380 broad.mit.edu 37 12 53565181 53565181 + Nonsense_Mutation SNP G A A TCGA-43-3394-01A-01D-0983-08 TCGA-43-3394-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx bb72e789-f8ad-4ab5-805b-a9ac21cef0e3 37a26c5a-bbbc-4403-81b3-5c5510ee3432 g.chr12:53565181G>A uc001sby.2 - 7 622 c.496C>T c.(496-498)CAG>TAG p.Q166* CSAD_uc001sbw.2_Intron|CSAD_uc009zmt.2_Intron|CSAD_uc010snx.1_Nonsense_Mutation_p.Q193*|CSAD_uc001sbz.2_Nonsense_Mutation_p.Q166*|CSAD_uc009zmu.2_Intron|CSAD_uc001sca.3_RNA|CSAD_uc010sny.1_3'UTR NM_015989 NP_057073 Q9Y600 CSAD_HUMAN cysteine sulfinic acid decarboxylase 166 carboxylic acid metabolic process pyridoxal phosphate binding|sulfinoalanine decarboxylase activity ovary(1) 1 L-Cysteine(DB00151)|Pyridoxal Phosphate(DB00114) GGGTAGCGCTGATAGCGGGCC 0.622 Hereditary_Prostate_Cancer 20 17 --- --- --- --- PASS OR6C6 283365 broad.mit.edu 37 12 55688725 55688725 + Missense_Mutation SNP G T T TCGA-43-3394-01A-01D-0983-08 TCGA-43-3394-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx bb72e789-f8ad-4ab5-805b-a9ac21cef0e3 37a26c5a-bbbc-4403-81b3-5c5510ee3432 g.chr12:55688725G>T uc010sph.1 - 1 292 c.292C>A c.(292-294)CAA>AAA p.Q98K NM_001005493 NP_001005493 A6NF89 OR6C6_HUMAN olfactory receptor, family 6, subfamily C, 98 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(1)|skin(1) 2 AAAAATAATTGAGTTGCACAA 0.383 14 27 --- --- --- --- PASS PIP4K2C 79837 broad.mit.edu 37 12 57994176 57994176 + Missense_Mutation SNP G A A TCGA-43-3394-01A-01D-0983-08 TCGA-43-3394-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx bb72e789-f8ad-4ab5-805b-a9ac21cef0e3 37a26c5a-bbbc-4403-81b3-5c5510ee3432 g.chr12:57994176G>A uc001sou.2 + 7 900 c.769G>A c.(769-771)GAG>AAG p.E257K PIP4K2C_uc001sot.2_Missense_Mutation_p.E257K|PIP4K2C_uc010srs.1_Missense_Mutation_p.E239K|PIP4K2C_uc010srt.1_Missense_Mutation_p.E209K NM_001146258 NP_001139730 Q8TBX8 PI42C_HUMAN phosphatidylinositol-5-phosphate 4-kinase, type 257 PIPK. cytoplasm|membrane 1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding|identical protein binding central_nervous_system(2)|lung(1) 3 Melanoma(17;0.122) TATTGGTGAAGAGGAGAAGAA 0.413 20 26 --- --- --- --- PASS RFX4 5992 broad.mit.edu 37 12 107155033 107155033 + Missense_Mutation SNP G T T TCGA-43-3394-01A-01D-0983-08 TCGA-43-3394-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx bb72e789-f8ad-4ab5-805b-a9ac21cef0e3 37a26c5a-bbbc-4403-81b3-5c5510ee3432 g.chr12:107155033G>T uc001tlr.2 + 18 2060 c.1994G>T c.(1993-1995)AGA>ATA p.R665I RFX4_uc001tlt.2_Missense_Mutation_p.R674I|RFX4_uc001tlv.2_Missense_Mutation_p.R571I NM_213594 NP_998759 Q33E94 RFX4_HUMAN regulatory factor X4 isoform c 665 transcription, DNA-dependent nucleus DNA binding upper_aerodigestive_tract(1) 1 AGTACTCCCAGACTGCATCCT 0.512 43 100 --- --- --- --- PASS MSI1 4440 broad.mit.edu 37 12 120802555 120802555 + Missense_Mutation SNP C T T TCGA-43-3394-01A-01D-0983-08 TCGA-43-3394-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx bb72e789-f8ad-4ab5-805b-a9ac21cef0e3 37a26c5a-bbbc-4403-81b3-5c5510ee3432 g.chr12:120802555C>T uc001tye.1 - 5 335 c.271G>A c.(271-273)GAC>AAC p.D91N NM_002442 NP_002433 O43347 MSI1H_HUMAN musashi 1 91 RRM 1. nervous system development cytoplasm|nucleus nucleotide binding central_nervous_system(2)|breast(1) 3 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) ACCTTAGGGTCAATCTACAAG 0.537 31 84 --- --- --- --- PASS WDR66 144406 broad.mit.edu 37 12 122413496 122413496 + Missense_Mutation SNP G A A TCGA-43-3394-01A-01D-0983-08 TCGA-43-3394-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx bb72e789-f8ad-4ab5-805b-a9ac21cef0e3 37a26c5a-bbbc-4403-81b3-5c5510ee3432 g.chr12:122413496G>A uc009zxk.2 + 19 3053 c.2911G>A c.(2911-2913)GAC>AAC p.D971N NM_144668 NP_653269 Q8TBY9 WDR66_HUMAN WD repeat domain 66 971 calcium ion binding ovary(1)|skin(1) 2 all_neural(191;0.0496)|Medulloblastoma(191;0.0922) OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248) TCAAGGCATCGACACAATGGA 0.443 5 38 --- --- --- --- PASS GOLGA3 2802 broad.mit.edu 37 12 133398645 133398645 + Missense_Mutation SNP G T T TCGA-43-3394-01A-01D-0983-08 TCGA-43-3394-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx bb72e789-f8ad-4ab5-805b-a9ac21cef0e3 37a26c5a-bbbc-4403-81b3-5c5510ee3432 g.chr12:133398645G>T uc001ukz.1 - 2 629 c.70C>A c.(70-72)CCC>ACC p.P24T GOLGA3_uc001ula.1_Missense_Mutation_p.P24T|GOLGA3_uc001ulb.2_Missense_Mutation_p.P24T NM_005895 NP_005886 Q08378 GOGA3_HUMAN Golgi autoantigen, golgin subfamily a, 3 24 Pro-rich. intra-Golgi vesicle-mediated transport Golgi cisterna membrane|Golgi transport complex protein binding|transporter activity ovary(3)|central_nervous_system(2)|pancreas(1) 6 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0176)|Lung NSC(355;0.204) OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06) GGGGCCTCGGGGAGAGACGAG 0.647 18 34 --- --- --- --- PASS NBEA 26960 broad.mit.edu 37 13 36026233 36026233 + Silent SNP G T T TCGA-43-3394-01A-01D-0983-08 TCGA-43-3394-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx bb72e789-f8ad-4ab5-805b-a9ac21cef0e3 37a26c5a-bbbc-4403-81b3-5c5510ee3432 g.chr13:36026233G>T uc001uvb.2 + 40 6515 c.6309G>T c.(6307-6309)ACG>ACT p.T2103T NBEA_uc010abi.2_Silent_p.T759T NM_015678 NP_056493 Q8NFP9 NBEA_HUMAN neurobeachin 2103 cytosol|endomembrane system|plasma membrane|trans-Golgi network protein binding ovary(9)|large_intestine(2) 11 Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207) all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199) GATTAGGCACGGAAGAAGATG 0.313 28 21 --- --- --- --- PASS COL4A1 1282 broad.mit.edu 37 13 110861758 110861758 + Missense_Mutation SNP G T T TCGA-43-3394-01A-01D-0983-08 TCGA-43-3394-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx bb72e789-f8ad-4ab5-805b-a9ac21cef0e3 37a26c5a-bbbc-4403-81b3-5c5510ee3432 g.chr13:110861758G>T uc001vqw.3 - 11 754 c.632C>A c.(631-633)CCC>CAC p.P211H COL4A1_uc010agl.2_Missense_Mutation_p.P211H NM_001845 NP_001836 P02462 CO4A1_HUMAN alpha 1 type IV collagen preproprotein 211 Triple-helical region. angiogenesis|axon guidance extracellular matrix structural constituent|platelet-derived growth factor binding ovary(3)|lung(1)|central_nervous_system(1)|pancreas(1) 6 all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604) Breast(118;0.2) BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145) TGGAGGGCCGGGAGGGCCTGG 0.418 4 36 --- --- --- --- PASS RNASE1 6035 broad.mit.edu 37 14 21269781 21269781 + Silent SNP A G G TCGA-43-3394-01A-01D-0983-08 TCGA-43-3394-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx bb72e789-f8ad-4ab5-805b-a9ac21cef0e3 37a26c5a-bbbc-4403-81b3-5c5510ee3432 g.chr14:21269781A>G uc001vyf.2 - 2 623 c.447T>C c.(445-447)GAT>GAC p.D149D RNASE1_uc001vyg.2_Silent_p.D149D|RNASE1_uc001vyh.2_Silent_p.D149D|RNASE1_uc001vyi.2_Silent_p.D149D NM_198232 NP_937875 P07998 RNAS1_HUMAN pancreatic ribonuclease precursor 149 extracellular region nucleic acid binding|pancreatic ribonuclease activity|protein binding 0 all_cancers(95;0.00671) all_lung(585;0.235) Epithelial(56;9.21e-07)|all cancers(55;2.9e-06) GBM - Glioblastoma multiforme(265;0.0126) CCACAGAAGCATCAAAGTGGA 0.572 36 23 --- --- --- --- PASS NID2 22795 broad.mit.edu 37 14 52472511 52472511 + Missense_Mutation SNP G A A TCGA-43-3394-01A-01D-0983-08 TCGA-43-3394-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx bb72e789-f8ad-4ab5-805b-a9ac21cef0e3 37a26c5a-bbbc-4403-81b3-5c5510ee3432 g.chr14:52472511G>A uc001wzo.2 - 21 4295 c.4061C>T c.(4060-4062)CCA>CTA p.P1354L NID2_uc010tqs.1_Missense_Mutation_p.P1306L|NID2_uc010tqt.1_Missense_Mutation_p.P1354L NM_007361 NP_031387 Q14112 NID2_HUMAN nidogen 2 precursor 1354 LDL-receptor class B 5. basement membrane calcium ion binding|collagen binding pancreas(2)|breast(2)|ovary(1)|liver(1)|skin(1) 7 Breast(41;0.0639)|all_epithelial(31;0.123) TCGTTGTTCTGGGAGATACTC 0.428 22 17 --- --- --- --- PASS NRXN3 9369 broad.mit.edu 37 14 79423668 79423668 + Missense_Mutation SNP A T T TCGA-43-3394-01A-01D-0983-08 TCGA-43-3394-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx bb72e789-f8ad-4ab5-805b-a9ac21cef0e3 37a26c5a-bbbc-4403-81b3-5c5510ee3432 g.chr14:79423668A>T uc001xun.2 + 8 1731 c.1240A>T c.(1240-1242)AGC>TGC p.S414C NRXN3_uc001xum.1_RNA|NRXN3_uc010asv.1_Missense_Mutation_p.S539C NM_004796 NP_004787 Q9Y4C0 NRX3A_HUMAN neurexin 3 isoform 1 precursor 787 Laminin G-like 4.|Extracellular (Potential). axon guidance|cell adhesion integral to plasma membrane metal ion binding|receptor activity ovary(3)|upper_aerodigestive_tract(2)|pancreas(2)|central_nervous_system(1)|breast(1)|skin(1) 10 Renal(4;0.00876) BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223) GAGAGGAAAAAGCCTTAAGTT 0.498 13 41 --- --- --- --- PASS MAGEL2 54551 broad.mit.edu 37 15 23889145 23889145 + Missense_Mutation SNP G T T TCGA-43-3394-01A-01D-0983-08 TCGA-43-3394-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx bb72e789-f8ad-4ab5-805b-a9ac21cef0e3 37a26c5a-bbbc-4403-81b3-5c5510ee3432 g.chr15:23889145G>T uc001ywj.3 - 1 2031 c.1936C>A c.(1936-1938)CGC>AGC p.R646S NM_019066 NP_061939 MAGE-like protein 2 0 all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14) all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177) ACCTATTAGCGGGGAGGGGGC 0.577 10 18 --- --- --- --- PASS LPCAT4 254531 broad.mit.edu 37 15 34656452 34656452 + Silent SNP T A A TCGA-43-3394-01A-01D-0983-08 TCGA-43-3394-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx bb72e789-f8ad-4ab5-805b-a9ac21cef0e3 37a26c5a-bbbc-4403-81b3-5c5510ee3432 g.chr15:34656452T>A uc001zig.2 - 4 628 c.534A>T c.(532-534)CGA>CGT p.R178R LPCAT4_uc010bav.1_Silent_p.R178R NM_153613 NP_705841 Q643R3 LPCT4_HUMAN lysophosphatidylcholine acyltransferase 4 178 phospholipid biosynthetic process endoplasmic reticulum membrane|integral to membrane acyltransferase activity|calcium ion binding 0 CCACTCTGCGTCGAGAAGCCG 0.572 37 77 --- --- --- --- PASS TP53BP1 7158 broad.mit.edu 37 15 43714111 43714111 + Missense_Mutation SNP C A A TCGA-43-3394-01A-01D-0983-08 TCGA-43-3394-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx bb72e789-f8ad-4ab5-805b-a9ac21cef0e3 37a26c5a-bbbc-4403-81b3-5c5510ee3432 g.chr15:43714111C>A uc001zrs.2 - 19 4175 c.4027G>T c.(4027-4029)GGG>TGG p.G1343W TP53BP1_uc010udp.1_Missense_Mutation_p.G1343W|TP53BP1_uc001zrq.3_Missense_Mutation_p.G1348W|TP53BP1_uc001zrr.3_Missense_Mutation_p.G1348W|TP53BP1_uc010udq.1_Missense_Mutation_p.G1348W NM_005657 NP_005648 Q12888 TP53B_HUMAN tumor protein p53 binding protein 1 isoform 3 1343 double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter condensed chromosome kinetochore|cytoplasm|nucleoplasm p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity ovary(2)|skin(2)|large_intestine(1)|pancreas(1)|kidney(1) 7 all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728) GBM - Glioblastoma multiforme(94;1.59e-06) GGTTCTGTCCCGCTGGTTTTC 0.582 Direct_reversal_of_damage|Other_conserved_DNA_damage_response_genes 17 34 --- --- --- --- PASS MYO5C 55930 broad.mit.edu 37 15 52564918 52564918 + Silent SNP G A A TCGA-43-3394-01A-01D-0983-08 TCGA-43-3394-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx bb72e789-f8ad-4ab5-805b-a9ac21cef0e3 37a26c5a-bbbc-4403-81b3-5c5510ee3432 g.chr15:52564918G>A uc010bff.2 - 6 746 c.609C>T c.(607-609)GCC>GCT p.A203A MYO5C_uc010uga.1_RNA|MYO5C_uc010ugb.1_RNA|MYO5C_uc010ugc.1_Silent_p.A166A NM_018728 NP_061198 Q9NQX4 MYO5C_HUMAN myosin VC 203 Myosin head-like. myosin complex actin binding|ATP binding|calmodulin binding|motor activity ovary(7)|central_nervous_system(3)|large_intestine(2)|skin(2) 14 all cancers(107;0.0137) CATTTCCAACGGCCTAAAAAA 0.353 5 50 --- --- --- --- PASS ADAM10 102 broad.mit.edu 37 15 58902590 58902590 + Missense_Mutation SNP C T T TCGA-43-3394-01A-01D-0983-08 TCGA-43-3394-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx bb72e789-f8ad-4ab5-805b-a9ac21cef0e3 37a26c5a-bbbc-4403-81b3-5c5510ee3432 g.chr15:58902590C>T uc002afd.1 - 14 2375 c.1931G>A c.(1930-1932)CGG>CAG p.R644Q ADAM10_uc010bgc.1_RNA|ADAM10_uc010ugz.1_Missense_Mutation_p.R343Q|ADAM10_uc002afe.1_Intron|ADAM10_uc002aff.1_Missense_Mutation_p.R181Q NM_001110 NP_001101 O14672 ADA10_HUMAN ADAM metallopeptidase domain 10 precursor 644 Extracellular (Potential).|Cys-rich. cell-cell signaling|constitutive protein ectodomain proteolysis|epidermal growth factor receptor signaling pathway|in utero embryonic development|integrin-mediated signaling pathway|monocyte activation|negative regulation of cell adhesion|Notch receptor processing|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of T cell chemotaxis|protein phosphorylation|response to tumor necrosis factor cell surface|endomembrane system|Golgi-associated vesicle|integral to membrane|nucleus|plasma membrane integrin binding|metalloendopeptidase activity|protein homodimerization activity|protein kinase binding|SH3 domain binding|zinc ion binding skin(2) 2 GBM - Glioblastoma multiforme(80;0.202) TAATCTGCACCGCATGAAAAC 0.453 26 42 --- --- --- --- PASS IL16 3603 broad.mit.edu 37 15 81585143 81585143 + Missense_Mutation SNP C G G TCGA-43-3394-01A-01D-0983-08 TCGA-43-3394-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx bb72e789-f8ad-4ab5-805b-a9ac21cef0e3 37a26c5a-bbbc-4403-81b3-5c5510ee3432 g.chr15:81585143C>G uc002bgh.3 + 12 2043 c.1667C>G c.(1666-1668)TCT>TGT p.S556C IL16_uc002bgc.2_RNA|IL16_uc010blq.1_Missense_Mutation_p.S556C|IL16_uc002bge.3_RNA|IL16_uc010unp.1_Missense_Mutation_p.S598C|IL16_uc002bgg.2_Missense_Mutation_p.S556C|IL16_uc002bgi.1_5'UTR|IL16_uc002bgj.2_Missense_Mutation_p.S50C|IL16_uc002bgk.2_5'Flank NM_172217 NP_757366 Q14005 IL16_HUMAN interleukin 16 isoform 2 556 immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|extracellular space|nucleus|plasma membrane cytokine activity ovary(2)|lung(1)|skin(1) 4 GTGGTGCTTTCTATAGCATCC 0.612 3 18 --- --- --- --- PASS ANPEP 290 broad.mit.edu 37 15 90347487 90347487 + Missense_Mutation SNP G T T TCGA-43-3394-01A-01D-0983-08 TCGA-43-3394-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx bb72e789-f8ad-4ab5-805b-a9ac21cef0e3 37a26c5a-bbbc-4403-81b3-5c5510ee3432 g.chr15:90347487G>T uc002bop.3 - 6 1468 c.1176C>A c.(1174-1176)CAC>CAA p.H392Q NM_001150 NP_001141 P15144 AMPN_HUMAN membrane alanine aminopeptidase precursor 392 Extracellular.|Metalloprotease. Zinc; catalytic (By similarity). angiogenesis|cell differentiation|interspecies interaction between organisms cytosol|ER-Golgi intermediate compartment|integral to plasma membrane aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding ovary(3)|skin(1) 4 Lung NSC(78;0.0221)|all_lung(78;0.0448) BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169) Ezetimibe(DB00973) GGTCTACCTGGTGGGCCAGCT 0.642 38 46 --- --- --- --- PASS TMEM204 79652 broad.mit.edu 37 16 1584307 1584307 + Missense_Mutation SNP G A A TCGA-43-3394-01A-01D-0983-08 TCGA-43-3394-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx bb72e789-f8ad-4ab5-805b-a9ac21cef0e3 37a26c5a-bbbc-4403-81b3-5c5510ee3432 g.chr16:1584307G>A uc002cmc.2 + 2 429 c.31G>A c.(31-33)GTG>ATG p.V11M IFT140_uc002clz.2_Intron|IFT140_uc002cmb.2_Intron|TMEM204_uc002cmd.2_Missense_Mutation_p.V11M|TMEM204_uc010brr.1_Missense_Mutation_p.V11M NM_024600 NP_078876 Q9BSN7 TM204_HUMAN transmembrane protein 204 11 Helical; (Potential). response to stress adherens junction|integral to membrane 0 Hepatocellular(780;0.219) GGCCGCGGCCGTGCTGGTGGC 0.682 4 27 --- --- --- --- PASS PPL 5493 broad.mit.edu 37 16 4934186 4934186 + Silent SNP C A A TCGA-43-3394-01A-01D-0983-08 TCGA-43-3394-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx bb72e789-f8ad-4ab5-805b-a9ac21cef0e3 37a26c5a-bbbc-4403-81b3-5c5510ee3432 g.chr16:4934186C>A uc002cyd.1 - 22 4560 c.4470G>T c.(4468-4470)CTG>CTT p.L1490L NM_002705 NP_002696 O60437 PEPL_HUMAN periplakin 1490 Potential. keratinization cytoskeleton|desmosome|mitochondrion|nucleus protein binding|structural constituent of cytoskeleton ovary(4)|central_nervous_system(1)|skin(1) 6 CCGCCTTCTCCAGTGCAGCCA 0.637 4 30 --- --- --- --- PASS TNRC6A 27327 broad.mit.edu 37 16 24801321 24801321 + Missense_Mutation SNP C A A TCGA-43-3394-01A-01D-0983-08 TCGA-43-3394-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx bb72e789-f8ad-4ab5-805b-a9ac21cef0e3 37a26c5a-bbbc-4403-81b3-5c5510ee3432 g.chr16:24801321C>A uc002dmm.2 + 6 1472 c.1358C>A c.(1357-1359)CCA>CAA p.P453Q TNRC6A_uc010bxs.2_Missense_Mutation_p.P200Q|TNRC6A_uc010vcc.1_Missense_Mutation_p.P200Q|TNRC6A_uc002dmn.2_Missense_Mutation_p.P200Q|TNRC6A_uc002dmo.2_Missense_Mutation_p.P200Q NM_014494 NP_055309 Q8NDV7 TNR6A_HUMAN trinucleotide repeat containing 6A 453 Sufficient for interaction with EIF2C2.|Sufficient for interaction with EIF2C1, EIF2C3 and EIF2C4. negative regulation of translation involved in gene silencing by miRNA cytoplasmic mRNA processing body|micro-ribonucleoprotein complex nucleotide binding|RNA binding ovary(2) 2 GBM - Glioblastoma multiforme(48;0.0394) ATGACTGGACCAAATAACACT 0.438 10 15 --- --- --- --- PASS GTF3C1 2975 broad.mit.edu 37 16 27504600 27504600 + Missense_Mutation SNP T A A TCGA-43-3394-01A-01D-0983-08 TCGA-43-3394-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx bb72e789-f8ad-4ab5-805b-a9ac21cef0e3 37a26c5a-bbbc-4403-81b3-5c5510ee3432 g.chr16:27504600T>A uc002dov.1 - 17 2836 c.2796A>T c.(2794-2796)GAA>GAT p.E932D GTF3C1_uc002dou.2_Missense_Mutation_p.E932D NM_001520 NP_001511 Q12789 TF3C1_HUMAN general transcription factor IIIC, polypeptide 932 transcription factor TFIIIC complex DNA binding|protein binding ovary(2)|pancreas(1)|breast(1)|skin(1) 5 CGTTCAGAAATTCCTCCAGGT 0.552 4 12 --- --- --- --- PASS PHKG2 5261 broad.mit.edu 37 16 30768035 30768035 + Missense_Mutation SNP G A A TCGA-43-3394-01A-01D-0983-08 TCGA-43-3394-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx bb72e789-f8ad-4ab5-805b-a9ac21cef0e3 37a26c5a-bbbc-4403-81b3-5c5510ee3432 g.chr16:30768035G>A uc002dzk.1 + 9 1019 c.926G>A c.(925-927)CGG>CAG p.R309Q PHKG2_uc002dzi.1_Missense_Mutation_p.R313Q|PHKG2_uc002dzj.1_Missense_Mutation_p.R207Q NM_000294 NP_000285 P15735 PHKG2_HUMAN phosphorylase kinase, gamma 2 (testis) 309 Calmodulin-binding (domain-N) (By similarity). glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process cytosol ATP binding|calmodulin binding|phosphorylase kinase activity ovary(1) 1 Colorectal(24;0.198) CAGCGGTTCCGGGTAAGCCTG 0.627 10 53 --- --- --- --- PASS C16orf93 90835 broad.mit.edu 37 16 30771646 30771646 + Missense_Mutation SNP G T T TCGA-43-3394-01A-01D-0983-08 TCGA-43-3394-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx bb72e789-f8ad-4ab5-805b-a9ac21cef0e3 37a26c5a-bbbc-4403-81b3-5c5510ee3432 g.chr16:30771646G>T uc002dzm.2 - 4 759 c.428C>A c.(427-429)GCG>GAG p.A143E C16orf93_uc002dzn.2_Missense_Mutation_p.A143E|C16orf93_uc002dzo.2_Missense_Mutation_p.A106E|C16orf93_uc002dzp.2_Missense_Mutation_p.A143E|RNF40_uc002dzq.2_5'Flank|RNF40_uc010caa.2_5'Flank|RNF40_uc010cab.2_5'Flank|RNF40_uc010vfa.1_5'Flank|RNF40_uc002dzr.2_5'Flank|RNF40_uc010vfb.1_5'Flank NM_001014979 NP_001014979 A1A4V9 CP093_HUMAN hypothetical protein LOC90835 143 0 GGCACAAGCCGCTGACGTCTG 0.617 7 25 --- --- --- --- PASS PLCG2 5336 broad.mit.edu 37 16 81953096 81953096 + Missense_Mutation SNP G T T TCGA-43-3394-01A-01D-0983-08 TCGA-43-3394-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx bb72e789-f8ad-4ab5-805b-a9ac21cef0e3 37a26c5a-bbbc-4403-81b3-5c5510ee3432 g.chr16:81953096G>T uc002fgt.2 + 20 2214 c.2062G>T c.(2062-2064)GGC>TGC p.G688C PLCG2_uc010chg.1_Missense_Mutation_p.G688C NM_002661 NP_002652 P16885 PLCG2_HUMAN phospholipase C, gamma 2 688 SH2 2. intracellular signal transduction|phospholipid catabolic process|platelet activation plasma membrane phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity large_intestine(4)|lung(2)|ovary(1)|skin(1) 8 CAGGGCTAGGGGCAAGGTAAA 0.483 13 28 --- --- --- --- PASS PLCG2 5336 broad.mit.edu 37 16 81953097 81953097 + Missense_Mutation SNP G T T TCGA-43-3394-01A-01D-0983-08 TCGA-43-3394-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx bb72e789-f8ad-4ab5-805b-a9ac21cef0e3 37a26c5a-bbbc-4403-81b3-5c5510ee3432 g.chr16:81953097G>T uc002fgt.2 + 20 2215 c.2063G>T c.(2062-2064)GGC>GTC p.G688V PLCG2_uc010chg.1_Missense_Mutation_p.G688V NM_002661 NP_002652 P16885 PLCG2_HUMAN phospholipase C, gamma 2 688 SH2 2. intracellular signal transduction|phospholipid catabolic process|platelet activation plasma membrane phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity large_intestine(4)|lung(2)|ovary(1)|skin(1) 8 AGGGCTAGGGGCAAGGTAAAG 0.488 12 28 --- --- --- --- PASS MYH4 4622 broad.mit.edu 37 17 10360876 10360876 + Silent SNP G T T TCGA-43-3394-01A-01D-0983-08 TCGA-43-3394-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx bb72e789-f8ad-4ab5-805b-a9ac21cef0e3 37a26c5a-bbbc-4403-81b3-5c5510ee3432 g.chr17:10360876G>T uc002gmn.2 - 16 1869 c.1758C>A c.(1756-1758)GCC>GCA p.A586A uc002gml.1_Intron NM_017533 NP_060003 Q9Y623 MYH4_HUMAN myosin, heavy polypeptide 4, skeletal muscle 586 Myosin head-like. muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle ovary(10)|skin(2)|central_nervous_system(1) 13 CCACGGTGCCGGCATAGTGCA 0.527 27 21 --- --- --- --- PASS NF1 4763 broad.mit.edu 37 17 29653203 29653203 + Missense_Mutation SNP A T T TCGA-43-3394-01A-01D-0983-08 TCGA-43-3394-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx bb72e789-f8ad-4ab5-805b-a9ac21cef0e3 37a26c5a-bbbc-4403-81b3-5c5510ee3432 g.chr17:29653203A>T uc002hgg.2 + 37 5534 c.5201A>T c.(5200-5202)GAA>GTA p.E1734V NF1_uc002hgh.2_Missense_Mutation_p.E1713V|NF1_uc002hgi.1_Missense_Mutation_p.E746V|NF1_uc010cso.2_5'UTR NM_001042492 NP_001035957 P21359 NF1_HUMAN neurofibromin isoform 1 1734 CRAL-TRIO. actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus protein binding|Ras GTPase activator activity soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1) 330 all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659) UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146) TTGGCTTTAGAAGAGGACCTG 0.423 D|Mis|N|F|S|O neurofibroma|glioma neurofibroma|glioma Neurofibromatosis_type_1 TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088) 34 45 --- --- --- --- PASS COL1A1 1277 broad.mit.edu 37 17 48266736 48266736 + Splice_Site SNP A G G rs113739104 TCGA-43-3394-01A-01D-0983-08 TCGA-43-3394-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx bb72e789-f8ad-4ab5-805b-a9ac21cef0e3 37a26c5a-bbbc-4403-81b3-5c5510ee3432 g.chr17:48266736A>G uc002iqm.2 - 39 2955 c.2829_splice c.e39+1 p.A943_splice NM_000088 NP_000079 P02452 CO1A1_HUMAN alpha 1 type I collagen preproprotein axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception collagen type I|extracellular space|plasma membrane identical protein binding|platelet-derived growth factor binding COL1A1/PDGFB(372) soft_tissue(372)|central_nervous_system(7)|skin(1)|breast(1)|pancreas(1) 382 Collagenase(DB00048)|Palifermin(DB00039) GCTGGCACTTACAGCAGGACC 0.642 T PDGFB|USP6 dermatofibrosarcoma protuberans|aneurysmal bone cyst Osteogenesis imperfecta 16 40 --- --- --- --- PASS PCTP 58488 broad.mit.edu 37 17 53851197 53851197 + Missense_Mutation SNP G T T TCGA-43-3394-01A-01D-0983-08 TCGA-43-3394-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx bb72e789-f8ad-4ab5-805b-a9ac21cef0e3 37a26c5a-bbbc-4403-81b3-5c5510ee3432 g.chr17:53851197G>T uc002iul.3 + 4 561 c.452G>T c.(451-453)CGG>CTG p.R151L PCTP_uc002ium.3_Missense_Mutation_p.R79L|PCTP_uc010dcg.2_Intron|PCTP_uc010dch.2_RNA NM_021213 NP_067036 Q9UKL6 PPCT_HUMAN phosphatidylcholine transfer protein isoform 1 151 START. cytosol phosphatidylcholine binding|phosphatidylcholine transmembrane transporter activity lung(1) 1 BRCA - Breast invasive adenocarcinoma(1;0.00207) GGGGTGATCCGGGTGAAGCAA 0.612 14 16 --- --- --- --- PASS PRKCA 5578 broad.mit.edu 37 17 64299001 64299001 + Missense_Mutation SNP C T T TCGA-43-3394-01A-01D-0983-08 TCGA-43-3394-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx bb72e789-f8ad-4ab5-805b-a9ac21cef0e3 37a26c5a-bbbc-4403-81b3-5c5510ee3432 g.chr17:64299001C>T uc002jfp.1 + 1 76 c.32C>T c.(31-33)ACG>ATG p.T11M PRKCA_uc002jfo.1_Translation_Start_Site NM_002737 NP_002728 P17252 KPCA_HUMAN protein kinase C, alpha 11 activation of phospholipase C activity|energy reserve metabolic process|induction of apoptosis by extracellular signals|intracellular signal transduction|mRNA metabolic process|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of blood vessel endothelial cell migration|regulation of insulin secretion|response to interleukin-1|synaptic transmission cytosol|endoplasmic reticulum|membrane fraction|nucleoplasm|plasma membrane ATP binding|enzyme binding|histone kinase activity (H3-T6 specific)|protein kinase C activity|zinc ion binding central_nervous_system(4)|large_intestine(1)|stomach(1)|lung(1)|breast(1)|ovary(1) 9 BRCA - Breast invasive adenocarcinoma(6;4.68e-09) Phosphatidylserine(DB00144)|Vitamin E(DB00163) AACGACTCCACGGCGTCTCAG 0.592 15 18 --- --- --- --- PASS RNMT 8731 broad.mit.edu 37 18 13752338 13752338 + Missense_Mutation SNP A G G TCGA-43-3394-01A-01D-0983-08 TCGA-43-3394-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx bb72e789-f8ad-4ab5-805b-a9ac21cef0e3 37a26c5a-bbbc-4403-81b3-5c5510ee3432 g.chr18:13752338A>G uc002ksk.1 + 9 1338 c.1271A>G c.(1270-1272)AAT>AGT p.N424S RNMT_uc002ksl.1_Missense_Mutation_p.N424S|RNMT_uc002ksm.1_Missense_Mutation_p.N424S|RNMT_uc010dlk.2_Missense_Mutation_p.N424S|RNMT_uc010xae.1_RNA NM_003799 NP_003790 O43148 MCES_HUMAN RNA (guanine-7-) methyltransferase 424 mRNA capping|transcription from RNA polymerase II promoter|viral reproduction nucleoplasm mRNA (guanine-N7-)-methyltransferase activity|RNA binding 0 TATCCTGCAAATGAGAGTTCT 0.338 12 15 --- --- --- --- PASS FHOD3 80206 broad.mit.edu 37 18 34298246 34298246 + Missense_Mutation SNP G T T TCGA-43-3394-01A-01D-0983-08 TCGA-43-3394-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx bb72e789-f8ad-4ab5-805b-a9ac21cef0e3 37a26c5a-bbbc-4403-81b3-5c5510ee3432 g.chr18:34298246G>T uc002kzt.1 + 15 2506 c.2409G>T c.(2407-2409)ATG>ATT p.M803I FHOD3_uc002kzs.1_Missense_Mutation_p.M820I|FHOD3_uc010dmz.1_Missense_Mutation_p.M535I|FHOD3_uc010dna.1_Missense_Mutation_p.M123I NM_025135 NP_079411 Q2V2M9 FHOD3_HUMAN formin homology 2 domain containing 3 803 actin cytoskeleton organization cytoplasm|cytoskeleton actin binding skin(3)|large_intestine(2)|breast(2)|ovary(1) 8 all_epithelial(2;0.0181)|Colorectal(2;0.0195) TCCAAGACATGGATTTCACTG 0.582 4 41 --- --- --- --- PASS TCEB3B 51224 broad.mit.edu 37 18 44560772 44560772 + Silent SNP A T T TCGA-43-3394-01A-01D-0983-08 TCGA-43-3394-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx bb72e789-f8ad-4ab5-805b-a9ac21cef0e3 37a26c5a-bbbc-4403-81b3-5c5510ee3432 g.chr18:44560772A>T uc002lcr.1 - 1 1217 c.864T>A c.(862-864)GCT>GCA p.A288A KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.2_Intron|KATNAL2_uc002lcp.3_Intron NM_016427 NP_057511 Q8IYF1 ELOA2_HUMAN elongin A2 288 regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter integral to membrane|nucleus DNA binding ovary(2)|large_intestine(1)|pancreas(1) 4 GGCCGCTGCCAGCTTGCCCCC 0.612 38 31 --- --- --- --- PASS MED16 10025 broad.mit.edu 37 19 872083 872083 + Silent SNP C A A TCGA-43-3394-01A-01D-0983-08 TCGA-43-3394-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx bb72e789-f8ad-4ab5-805b-a9ac21cef0e3 37a26c5a-bbbc-4403-81b3-5c5510ee3432 g.chr19:872083C>A uc002lqd.1 - 12 2092 c.1941G>T c.(1939-1941)CGG>CGT p.R647R MED16_uc010drw.1_Intron|MED16_uc002lqe.2_Silent_p.R636R|MED16_uc002lqf.2_Silent_p.R636R NM_005481 NP_005472 Q9Y2X0 MED16_HUMAN mediator complex subunit 16 647 WD 4. androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex receptor activity|thyroid hormone receptor binding|thyroid hormone receptor coactivator activity|vitamin D receptor binding 0 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137) 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) AGGTGCCGTCCCGCAGAAAGC 0.662 6 7 --- --- --- --- PASS CLEC17A 388512 broad.mit.edu 37 19 14720890 14720890 + Missense_Mutation SNP A G G TCGA-43-3394-01A-01D-0983-08 TCGA-43-3394-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx bb72e789-f8ad-4ab5-805b-a9ac21cef0e3 37a26c5a-bbbc-4403-81b3-5c5510ee3432 g.chr19:14720890A>G uc010dzn.1 + 14 1096 c.1019A>G c.(1018-1020)GAG>GGG p.E340G CLEC17A_uc002mzh.1_Silent_p.R286R|CLEC17A_uc010xnt.1_RNA|CLEC17A_uc010xnu.1_3'UTR|CLEC17A_uc010dzo.1_Silent_p.R303R Q6ZS10 CL17A_HUMAN SubName: Full=CLEC17A protein; 340 C-type lectin.|Extracellular (Potential). cell surface|integral to membrane fucose binding|mannose binding|metal ion binding|receptor activity 0 tgggagccaGAGGAACCCAAT 0.229 13 34 --- --- --- --- PASS EMR2 30817 broad.mit.edu 37 19 14883240 14883240 + Missense_Mutation SNP C T T TCGA-43-3394-01A-01D-0983-08 TCGA-43-3394-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx bb72e789-f8ad-4ab5-805b-a9ac21cef0e3 37a26c5a-bbbc-4403-81b3-5c5510ee3432 g.chr19:14883240C>T uc002mzp.1 - 5 725 c.269G>A c.(268-270)GGG>GAG p.G90E EMR2_uc010xnw.1_Missense_Mutation_p.G90E|EMR2_uc002mzo.1_Missense_Mutation_p.G90E|EMR2_uc002mzq.1_Missense_Mutation_p.G90E|EMR2_uc002mzr.1_Missense_Mutation_p.G90E|EMR2_uc002mzs.1_Missense_Mutation_p.G90E|EMR2_uc002mzt.1_Missense_Mutation_p.G90E|EMR2_uc002mzu.1_Missense_Mutation_p.G90E|EMR2_uc010xnx.1_RNA|EMR2_uc010xny.1_RNA NM_013447 NP_038475 Q9UHX3 EMR2_HUMAN egf-like module containing, mucin-like, hormone 90 Extracellular (Potential).|EGF-like 2; calcium-binding. cell adhesion|neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity lung(2)|ovary(1)|skin(1) 4 GTCGTAGCTCCCCTCTGTGTT 0.517 28 50 --- --- --- --- PASS EMR2 30817 broad.mit.edu 37 19 14884827 14884827 + Missense_Mutation SNP T A A TCGA-43-3394-01A-01D-0983-08 TCGA-43-3394-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx bb72e789-f8ad-4ab5-805b-a9ac21cef0e3 37a26c5a-bbbc-4403-81b3-5c5510ee3432 g.chr19:14884827T>A uc002mzp.1 - 4 578 c.122A>T c.(121-123)AAT>ATT p.N41I EMR2_uc010xnw.1_Missense_Mutation_p.N41I|EMR2_uc002mzo.1_Missense_Mutation_p.N41I|EMR2_uc002mzq.1_Missense_Mutation_p.N41I|EMR2_uc002mzr.1_Missense_Mutation_p.N41I|EMR2_uc002mzs.1_Missense_Mutation_p.N41I|EMR2_uc002mzt.1_Missense_Mutation_p.N41I|EMR2_uc002mzu.1_Missense_Mutation_p.N41I|EMR2_uc010xnx.1_5'Flank|EMR2_uc010xny.1_RNA NM_013447 NP_038475 Q9UHX3 EMR2_HUMAN egf-like module containing, mucin-like, hormone 41 Extracellular (Potential).|EGF-like 1. cell adhesion|neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity lung(2)|ovary(1)|skin(1) 4 GGCGGTGGCATTGACACACGA 0.587 14 67 --- --- --- --- PASS C19orf2 8725 broad.mit.edu 37 19 30505964 30505964 + Silent SNP A G G TCGA-43-3394-01A-01D-0983-08 TCGA-43-3394-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx bb72e789-f8ad-4ab5-805b-a9ac21cef0e3 37a26c5a-bbbc-4403-81b3-5c5510ee3432 g.chr19:30505964A>G uc002nsr.2 + 11 1626 c.1596A>G c.(1594-1596)CAA>CAG p.Q532Q C19orf2_uc002nsq.2_Intron|C19orf2_uc002nss.2_Silent_p.Q492Q|C19orf2_uc002nst.2_Silent_p.Q456Q NM_003796 NP_003787 O94763 RMP_HUMAN RPB5-mediating protein isoform a 532 protein folding|regulation of transcription from RNA polymerase II promoter|response to virus DNA-directed RNA polymerase II, core complex|prefoldin complex transcription corepressor activity|unfolded protein binding ovary(1)|kidney(1) 2 Ovarian(5;0.000902)|Breast(6;0.0203)|Esophageal squamous(110;0.195) Hepatocellular(1079;0.137)|Renal(1328;0.228) STAD - Stomach adenocarcinoma(5;5.36e-06)|Lung(7;0.0144)|LUAD - Lung adenocarcinoma(5;0.115) STAD - Stomach adenocarcinoma(1328;0.18) CCAGATTGCAACAGAAAGACT 0.393 24 63 --- --- --- --- PASS ZNF536 9745 broad.mit.edu 37 19 30935022 30935022 + Missense_Mutation SNP C A A TCGA-43-3394-01A-01D-0983-08 TCGA-43-3394-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx bb72e789-f8ad-4ab5-805b-a9ac21cef0e3 37a26c5a-bbbc-4403-81b3-5c5510ee3432 g.chr19:30935022C>A uc002nsu.1 + 2 691 c.553C>A c.(553-555)CTG>ATG p.L185M ZNF536_uc010edd.1_Missense_Mutation_p.L185M NM_014717 NP_055532 O15090 ZN536_HUMAN zinc finger protein 536 185 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding ovary(7)|large_intestine(2)|skin(2) 11 Esophageal squamous(110;0.0834) GCTGGGCAACCTGGGCAAGGG 0.667 6 13 --- --- --- --- PASS PEPD 5184 broad.mit.edu 37 19 33902627 33902627 + Nonsense_Mutation SNP C A A TCGA-43-3394-01A-01D-0983-08 TCGA-43-3394-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx bb72e789-f8ad-4ab5-805b-a9ac21cef0e3 37a26c5a-bbbc-4403-81b3-5c5510ee3432 g.chr19:33902627C>A uc002nur.3 - 11 904 c.769G>T c.(769-771)GGA>TGA p.G257* PEPD_uc010xrr.1_Nonsense_Mutation_p.G216*|PEPD_uc010xrs.1_Nonsense_Mutation_p.G193* NM_000285 NP_000276 P12955 PEPD_HUMAN prolidase isoform 1 257 cellular amino acid metabolic process|collagen catabolic process|proteolysis aminopeptidase activity|dipeptidase activity|manganese ion binding|metallocarboxypeptidase activity ovary(2) 2 Esophageal squamous(110;0.137) CCGGCGTGTCCGTAGTGTAGC 0.597 9 14 --- --- --- --- PASS ZNF30 90075 broad.mit.edu 37 19 35435155 35435155 + Nonsense_Mutation SNP G T T TCGA-43-3394-01A-01D-0983-08 TCGA-43-3394-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx bb72e789-f8ad-4ab5-805b-a9ac21cef0e3 37a26c5a-bbbc-4403-81b3-5c5510ee3432 g.chr19:35435155G>T uc010edp.1 + 5 1663 c.1285G>T c.(1285-1287)GAA>TAA p.E429* ZNF30_uc002nxf.2_Nonsense_Mutation_p.E348*|ZNF30_uc010edq.1_Nonsense_Mutation_p.E430*|ZNF30_uc010edr.1_Nonsense_Mutation_p.E430* NM_194325 NP_919306 P17039 ZNF30_HUMAN zinc finger protein 30 isoform b 429 C2H2-type 12. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|central_nervous_system(1) 2 all_lung(56;8.38e-08)|Lung NSC(56;1.31e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0849) GBM - Glioblastoma multiforme(1328;0.0265) GAAACCCTATGAATGTAAGGA 0.463 50 41 --- --- --- --- PASS NLRP5 126206 broad.mit.edu 37 19 56565112 56565112 + Missense_Mutation SNP C A A rs61737647 by1000genomes TCGA-43-3394-01A-01D-0983-08 TCGA-43-3394-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx bb72e789-f8ad-4ab5-805b-a9ac21cef0e3 37a26c5a-bbbc-4403-81b3-5c5510ee3432 g.chr19:56565112C>A uc002qmj.2 + 13 3237 c.3237C>A c.(3235-3237)GAC>GAA p.D1079E NLRP5_uc002qmi.2_Missense_Mutation_p.D1060E NM_153447 NP_703148 P59047 NALP5_HUMAN NACHT, LRR and PYD containing protein 5 1079 LRR 12. mitochondrion|nucleolus ATP binding ovary(3)|skin(2)|kidney(1)|central_nervous_system(1) 7 Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0326) CCCTGGGTGACGGTGGGGTTG 0.612 14 16 --- --- --- --- PASS SNPH 9751 broad.mit.edu 37 20 1277858 1277858 + Silent SNP T A A TCGA-43-3394-01A-01D-0983-08 TCGA-43-3394-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx bb72e789-f8ad-4ab5-805b-a9ac21cef0e3 37a26c5a-bbbc-4403-81b3-5c5510ee3432 g.chr20:1277858T>A uc002wes.2 + 4 356 c.120T>A c.(118-120)TCT>TCA p.S40S SNPH_uc002wet.2_Silent_p.S84S NM_014723 NP_055538 O15079 SNPH_HUMAN syntaphilin 40 Poly-Ser. synaptic vesicle docking involved in exocytosis cell junction|integral to membrane|synapse|synaptosome syntaxin-1 binding ovary(2) 2 GCAGCAATTCTGGCTCCTACA 0.637 10 15 --- --- --- --- PASS RBL1 5933 broad.mit.edu 37 20 35668651 35668651 + Missense_Mutation SNP C G G TCGA-43-3394-01A-01D-0983-08 TCGA-43-3394-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx bb72e789-f8ad-4ab5-805b-a9ac21cef0e3 37a26c5a-bbbc-4403-81b3-5c5510ee3432 g.chr20:35668651C>G uc002xgi.2 - 14 1887 c.1808G>C c.(1807-1809)GGA>GCA p.G603A RBL1_uc010zvt.1_RNA|RBL1_uc002xgj.1_Missense_Mutation_p.G603A NM_002895 NP_002886 P28749 RBL1_HUMAN retinoblastoma-like protein 1 isoform a 603 Pocket; binds T and E1A.|Spacer. cell cycle|chromatin modification|interspecies interaction between organisms|regulation of cell cycle|regulation of lipid kinase activity|transcription, DNA-dependent transcription factor binding lung(5)|skin(3)|ovary(2) 10 Myeloproliferative disorder(115;0.00878) CTGCACATTTCCTCCATTTCC 0.388 35 25 --- --- --- --- PASS C20orf111 51526 broad.mit.edu 37 20 42825791 42825791 + Missense_Mutation SNP G C C TCGA-43-3394-01A-01D-0983-08 TCGA-43-3394-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx bb72e789-f8ad-4ab5-805b-a9ac21cef0e3 37a26c5a-bbbc-4403-81b3-5c5510ee3432 g.chr20:42825791G>C uc002xlk.2 - 4 917 c.780C>G c.(778-780)TTC>TTG p.F260L NM_016470 NP_057554 Q9NX31 CT111_HUMAN oxidative stress responsive 1 260 0 Myeloproliferative disorder(115;0.028) COAD - Colon adenocarcinoma(18;0.00189) CATCATCCACGAAGACTCGAG 0.493 25 19 --- --- --- --- PASS TTC3 7267 broad.mit.edu 37 21 38568325 38568325 + Missense_Mutation SNP C G G TCGA-43-3394-01A-01D-0983-08 TCGA-43-3394-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx bb72e789-f8ad-4ab5-805b-a9ac21cef0e3 37a26c5a-bbbc-4403-81b3-5c5510ee3432 g.chr21:38568325C>G uc002yvz.2 + 42 5672 c.5567C>G c.(5566-5568)CCA>CGA p.P1856R TTC3_uc002ywa.2_Missense_Mutation_p.P1856R|TTC3_uc002ywb.2_Missense_Mutation_p.P1856R|TTC3_uc010gnf.2_Missense_Mutation_p.P1621R|TTC3_uc002ywc.2_Missense_Mutation_p.P1546R NM_001001894 NP_001001894 P53804 TTC3_HUMAN tetratricopeptide repeat domain 3 1856 protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process nucleus protein binding|ubiquitin-protein ligase activity|zinc ion binding skin(3)|ovary(2)|lung(2)|breast(2) 9 Myeloproliferative disorder(46;0.0412) GTGGTATTCCCATGTTACAAC 0.428 8 27 --- --- --- --- PASS KCNJ15 3772 broad.mit.edu 37 21 39672221 39672221 + Silent SNP T C C TCGA-43-3394-01A-01D-0983-08 TCGA-43-3394-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx bb72e789-f8ad-4ab5-805b-a9ac21cef0e3 37a26c5a-bbbc-4403-81b3-5c5510ee3432 g.chr21:39672221T>C uc002ywv.2 + 4 1340 c.1038T>C c.(1036-1038)TCT>TCC p.S346S KCNJ15_uc002yww.2_Silent_p.S346S|KCNJ15_uc002ywx.2_Silent_p.S346S NM_002243 NP_002234 Q99712 IRK15_HUMAN potassium inwardly-rectifying channel J15 346 Cytoplasmic (By similarity). synaptic transmission integral to plasma membrane inward rectifier potassium channel activity ovary(2)|skin(2)|breast(1)|central_nervous_system(1) 6 GTGCAGATTCTGAGAAACAGC 0.438 20 31 --- --- --- --- PASS PCNT 5116 broad.mit.edu 37 21 47746346 47746346 + Missense_Mutation SNP A G G TCGA-43-3394-01A-01D-0983-08 TCGA-43-3394-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx bb72e789-f8ad-4ab5-805b-a9ac21cef0e3 37a26c5a-bbbc-4403-81b3-5c5510ee3432 g.chr21:47746346A>G uc002zji.3 + 2 217 c.110A>G c.(109-111)AAG>AGG p.K37R PCNT_uc002zjj.2_5'UTR|C21orf58_uc011afx.1_5'Flank|C21orf58_uc002zjf.2_5'Flank|C21orf58_uc010gqj.1_5'Flank|C21orf58_uc002zjg.1_5'Flank NM_006031 NP_006022 O95613 PCNT_HUMAN pericentrin 37 cilium assembly|G2/M transition of mitotic cell cycle cytosol|microtubule calmodulin binding ovary(4)|breast(2)|pancreas(2) 8 Breast(49;0.112) TCGGAGAAAAAGACGGCGAAG 0.512 17 28 --- --- --- --- PASS CERK 64781 broad.mit.edu 37 22 47085971 47085971 + Missense_Mutation SNP G T T TCGA-43-3394-01A-01D-0983-08 TCGA-43-3394-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx bb72e789-f8ad-4ab5-805b-a9ac21cef0e3 37a26c5a-bbbc-4403-81b3-5c5510ee3432 g.chr22:47085971G>T uc003bia.2 - 12 1566 c.1459C>A c.(1459-1461)CAC>AAC p.H487N CERK_uc010hae.2_Missense_Mutation_p.H289N NM_022766 NP_073603 Q8TCT0 CERK1_HUMAN ceramide kinase 487 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|ceramide metabolic process integral to membrane of membrane fraction|membrane|nucleus ATP binding|ceramide kinase activity|diacylglycerol kinase activity|magnesium ion binding skin(1) 1 Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)|Lung SC(80;0.164) UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)|BRCA - Breast invasive adenocarcinoma(115;0.171) CAGGAGGGGTGGCTGCTGCAA 0.612 10 22 --- --- --- --- PASS WWC3 55841 broad.mit.edu 37 X 10096089 10096089 + Missense_Mutation SNP A T T TCGA-43-3394-01A-01D-0983-08 TCGA-43-3394-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx bb72e789-f8ad-4ab5-805b-a9ac21cef0e3 37a26c5a-bbbc-4403-81b3-5c5510ee3432 g.chrX:10096089A>T uc004csx.3 + 16 2366 c.2168A>T c.(2167-2169)CAT>CTT p.H723L WWC3_uc010nds.2_Missense_Mutation_p.H387L|WWC3_uc010ndt.2_RNA NM_015691 NP_056506 Q9ULE0 WWC3_HUMAN WWC family member 3 723 ovary(4) 4 CTGCGCTGGCATTCCGTGCAG 0.562 34 8 --- --- --- --- PASS FAM47C 442444 broad.mit.edu 37 X 37026510 37026510 + Silent SNP G T T TCGA-43-3394-01A-01D-0983-08 TCGA-43-3394-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx bb72e789-f8ad-4ab5-805b-a9ac21cef0e3 37a26c5a-bbbc-4403-81b3-5c5510ee3432 g.chrX:37026510G>T uc004ddl.1 + 1 41 c.27G>T c.(25-27)CGG>CGT p.R9R NM_001013736 NP_001013758 Q5HY64 FA47C_HUMAN hypothetical protein LOC442444 9 ovary(3) 3 CGCAGGACCGGCCCAGTTCCC 0.657 7 2 --- --- --- --- PASS SYN1 6853 broad.mit.edu 37 X 47464427 47464427 + Missense_Mutation SNP C T T TCGA-43-3394-01A-01D-0983-08 TCGA-43-3394-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx bb72e789-f8ad-4ab5-805b-a9ac21cef0e3 37a26c5a-bbbc-4403-81b3-5c5510ee3432 g.chrX:47464427C>T uc004die.2 - 5 853 c.724G>A c.(724-726)GAA>AAA p.E242K SYN1_uc004did.2_Missense_Mutation_p.E242K NM_006950 NP_008881 P17600 SYN1_HUMAN synapsin I isoform Ia 242 C; actin-binding and synaptic-vesicle binding. cell junction|Golgi apparatus actin binding|ATP binding|ligase activity|transporter activity ovary(1) 1 GGGAATTCTTCTGTCCCCAGT 0.458 11 3 --- --- --- --- PASS ZC4H2 55906 broad.mit.edu 37 X 64137714 64137714 + Silent SNP G T T TCGA-43-3394-01A-01D-0983-08 TCGA-43-3394-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx bb72e789-f8ad-4ab5-805b-a9ac21cef0e3 37a26c5a-bbbc-4403-81b3-5c5510ee3432 g.chrX:64137714G>T uc004dvu.2 - 5 712 c.624C>A c.(622-624)GCC>GCA p.A208A ZC4H2_uc004dvv.2_Silent_p.A185A|ZC4H2_uc011mov.1_Silent_p.A185A|ZC4H2_uc011mow.1_Missense_Mutation_p.P154Q|ZC4H2_uc004dvw.1_3'UTR NM_018684 NP_061154 Q9NQZ6 ZC4H2_HUMAN zinc finger, C4H2 domain containing 208 metal ion binding|protein binding ovary(1) 1 ACCGACTCTTGGCCTTGCAAA 0.483 6 9 --- --- --- --- PASS XIST 7503 broad.mit.edu 37 X 73069537 73069537 + RNA SNP G T T TCGA-43-3394-01A-01D-0983-08 TCGA-43-3394-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx bb72e789-f8ad-4ab5-805b-a9ac21cef0e3 37a26c5a-bbbc-4403-81b3-5c5510ee3432 g.chrX:73069537G>T uc004ebm.1 - 1 c.3052C>A NR_001564 Homo sapiens cDNA: FLJ21545 fis, clone COL06195. 0 CTGAAGATCAGCAATGCCAAG 0.383 11 10 --- --- --- --- PASS APOOL 139322 broad.mit.edu 37 X 84310882 84310882 + Missense_Mutation SNP G T T TCGA-43-3394-01A-01D-0983-08 TCGA-43-3394-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx bb72e789-f8ad-4ab5-805b-a9ac21cef0e3 37a26c5a-bbbc-4403-81b3-5c5510ee3432 g.chrX:84310882G>T uc004eem.2 + 5 359 c.345G>T c.(343-345)ATG>ATT p.M115I APOOL_uc010nmp.2_Intron NM_198450 NP_940852 Q6UXV4 APOOL_HUMAN apolipoprotein O-like precursor 115 extracellular region 0 TTCCGAAAATGGGAGTTATTA 0.343 3 5 --- --- --- --- PASS SATL1 340562 broad.mit.edu 37 X 84362449 84362449 + Missense_Mutation SNP G C C TCGA-43-3394-01A-01D-0983-08 TCGA-43-3394-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx bb72e789-f8ad-4ab5-805b-a9ac21cef0e3 37a26c5a-bbbc-4403-81b3-5c5510ee3432 g.chrX:84362449G>C uc011mqx.1 - 1 1526 c.1526C>G c.(1525-1527)CCA>CGA p.P509R SATL1_uc004een.2_Missense_Mutation_p.P509R NM_001163541 NP_001157013 Q86VE3 SATL1_HUMAN spermidine/spermine N1-acetyl transferase-like 1 322 Gln-rich. N-acetyltransferase activity breast(2) 2 GCTCCTGCCTGGTTGACTCAG 0.542 22 12 --- --- --- --- PASS TEX13A 56157 broad.mit.edu 37 X 104464730 104464730 + Missense_Mutation SNP G T T TCGA-43-3394-01A-01D-0983-08 TCGA-43-3394-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx bb72e789-f8ad-4ab5-805b-a9ac21cef0e3 37a26c5a-bbbc-4403-81b3-5c5510ee3432 g.chrX:104464730G>T uc004ema.2 - 2 464 c.352C>A c.(352-354)CAG>AAG p.Q118K IL1RAPL2_uc004elz.1_Intron|TEX13A_uc004emb.2_Missense_Mutation_p.Q118K NM_031274 NP_112564 Q9BXU3 TX13A_HUMAN testis expressed sequence 13A 118 intracellular zinc ion binding ovary(2) 2 TCCGTCTCCTGCTGCTCCCTG 0.607 10 5 --- --- --- --- PASS CXorf61 203413 broad.mit.edu 37 X 115593951 115593951 + Missense_Mutation SNP G A A TCGA-43-3394-01A-01D-0983-08 TCGA-43-3394-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx bb72e789-f8ad-4ab5-805b-a9ac21cef0e3 37a26c5a-bbbc-4403-81b3-5c5510ee3432 g.chrX:115593951G>A uc004eqj.1 - 1 187 c.67C>T c.(67-69)CGC>TGC p.R23C NM_001017978 NP_001017978 Q5H943 KKLC1_HUMAN chromosome X open reading frame 61 23 Extracellular (Potential). integral to membrane|plasma membrane 0 ACCTGAAAGCGGCGATATTTC 0.418 48 25 --- --- --- --- PASS OCRL 4952 broad.mit.edu 37 X 128723821 128723821 + Splice_Site SNP G T T TCGA-43-3394-01A-01D-0983-08 TCGA-43-3394-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx bb72e789-f8ad-4ab5-805b-a9ac21cef0e3 37a26c5a-bbbc-4403-81b3-5c5510ee3432 g.chrX:128723821G>T uc004euq.2 + 23 2635 c.2470_splice c.e23-1 p.V824_splice OCRL_uc004eur.2_Splice_Site_p.V816_splice|OCRL_uc010nrb.2_Intron NM_000276 NP_000267 Q01968 OCRL_HUMAN phosphatidylinositol polyphosphate 5-phosphatase regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction clathrin-coated vesicle|cytosol|early endosome|Golgi stack|Golgi-associated vesicle GTPase activator activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding lung(2)|ovary(1)|kidney(1) 4 TTTAAAAACAGGTGATCTCCC 0.403 33 13 --- --- --- --- PASS ZNF449 203523 broad.mit.edu 37 X 134494173 134494173 + Missense_Mutation SNP G T T TCGA-43-3394-01A-01D-0983-08 TCGA-43-3394-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx bb72e789-f8ad-4ab5-805b-a9ac21cef0e3 37a26c5a-bbbc-4403-81b3-5c5510ee3432 g.chrX:134494173G>T uc004eys.2 + 5 894 c.729G>T c.(727-729)GAG>GAT p.E243D ZNF449_uc004eyt.2_Missense_Mutation_p.E123D|ZNF449_uc004eyu.2_Missense_Mutation_p.E49D NM_152695 NP_689908 Q6P9G9 ZN449_HUMAN zinc finger protein 449 243 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2) 2 Acute lymphoblastic leukemia(192;6.56e-05) AAAAAATGGAGACTATGTATC 0.373 51 15 --- --- --- --- PASS MCF2 4168 broad.mit.edu 37 X 138699860 138699860 + Missense_Mutation SNP G T T TCGA-43-3394-01A-01D-0983-08 TCGA-43-3394-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx bb72e789-f8ad-4ab5-805b-a9ac21cef0e3 37a26c5a-bbbc-4403-81b3-5c5510ee3432 g.chrX:138699860G>T uc004fau.2 - 8 1105 c.811C>A c.(811-813)CTA>ATA p.L271I MCF2_uc004fav.2_Missense_Mutation_p.L271I|MCF2_uc011mwl.1_Missense_Mutation_p.L232I|MCF2_uc010nsh.1_Missense_Mutation_p.L271I|MCF2_uc011mwm.1_Missense_Mutation_p.L232I|MCF2_uc011mwn.1_Missense_Mutation_p.L416I|MCF2_uc004faw.2_Missense_Mutation_p.L331I|MCF2_uc011mwo.1_Missense_Mutation_p.L331I NM_005369 NP_005360 P10911 MCF2_HUMAN MCF.2 cell line derived transforming sequence 271 Spectrin. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytoskeleton|cytosol|membrane|membrane fraction protein binding|Rho guanyl-nucleotide exchange factor activity lung(1)|pleura(1) 2 Acute lymphoblastic leukemia(192;0.000127) TTTGATAATAGCTCCTGATTA 0.343 61 31 --- --- --- --- PASS SLITRK4 139065 broad.mit.edu 37 X 142718645 142718645 + Nonsense_Mutation SNP T A A TCGA-43-3394-01A-01D-0983-08 TCGA-43-3394-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx bb72e789-f8ad-4ab5-805b-a9ac21cef0e3 37a26c5a-bbbc-4403-81b3-5c5510ee3432 g.chrX:142718645T>A uc004fbx.2 - 2 656 c.280A>T c.(280-282)AAA>TAA p.K94* SLITRK4_uc004fby.2_Nonsense_Mutation_p.K94* NM_173078 NP_775101 Q8IW52 SLIK4_HUMAN slit and trk like 4 protein precursor 94 Extracellular (Potential).|LRR 2. integral to membrane upper_aerodigestive_tract(1)|large_intestine(1) 2 Acute lymphoblastic leukemia(192;6.56e-05) TTCTGCAGTTTATTATTCCCC 0.358 32 18 --- --- --- --- PASS CNGA2 1260 broad.mit.edu 37 X 150911817 150911817 + Missense_Mutation SNP A G G TCGA-43-3394-01A-01D-0983-08 TCGA-43-3394-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx bb72e789-f8ad-4ab5-805b-a9ac21cef0e3 37a26c5a-bbbc-4403-81b3-5c5510ee3432 g.chrX:150911817A>G uc004fey.1 + 7 1066 c.842A>G c.(841-843)TAC>TGC p.Y281C NM_005140 NP_005131 Q16280 CNGA2_HUMAN cyclic nucleotide gated channel alpha 2 281 Helical; Name=H4; (Potential). response to stimulus|sensory perception of smell intracellular cyclic nucleotide activated cation channel complex cAMP binding|intracellular cAMP activated cation channel activity breast(3) 3 Acute lymphoblastic leukemia(192;6.56e-05) CTTGTCCTCTACATCTTGGTC 0.502 44 24 --- --- --- --- PASS IL9R 3581 broad.mit.edu 37 X 155235767 155235767 + Missense_Mutation SNP G C C TCGA-43-3394-01A-01D-0983-08 TCGA-43-3394-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx bb72e789-f8ad-4ab5-805b-a9ac21cef0e3 37a26c5a-bbbc-4403-81b3-5c5510ee3432 g.chrX:155235767G>C uc004fnv.1 + 7 980 c.801G>C c.(799-801)TGG>TGC p.W267C IL9R_uc010nvn.2_Missense_Mutation_p.W246C|IL9R_uc004fnu.1_Missense_Mutation_p.W302C NM_002186 NP_002177 Q01113 IL9R_HUMAN interleukin 9 receptor precursor 267 Extracellular (Potential). cell proliferation extracellular space|integral to plasma membrane interleukin-9 receptor activity 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) TCCCACCCTGGGGGTGGCCAG 0.637 9 19 --- --- --- --- PASS LOC388692 388692 broad.mit.edu 37 1 149281933 149281934 + RNA INS - AGT AGT rs150270984 by1000genomes TCGA-43-3394-01A-01D-0983-08 TCGA-43-3394-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx bb72e789-f8ad-4ab5-805b-a9ac21cef0e3 37a26c5a-bbbc-4403-81b3-5c5510ee3432 g.chr1:149281933_149281934insAGT uc010pbf.1 + 1 c.2458_2459insAGT NR_027002 Homo sapiens cDNA FLJ13580 fis, clone PLACE1008851. 0 AAGATCTGTTGAGTAGGAACAT 0.342 5 3 --- --- --- --- PTPN18 26469 broad.mit.edu 37 2 131129929 131129934 + In_Frame_Del DEL GACGGG - - rs112040677 TCGA-43-3394-01A-01D-0983-08 TCGA-43-3394-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx bb72e789-f8ad-4ab5-805b-a9ac21cef0e3 37a26c5a-bbbc-4403-81b3-5c5510ee3432 g.chr2:131129929_131129934delGACGGG uc002trc.2 + 13 1214_1219 c.1113_1118delGACGGG c.(1111-1119)CAGACGGGG>CAG p.TG378del PTPN18_uc002trd.2_In_Frame_Del_p.TG357del|PTPN18_uc002trb.2_In_Frame_Del_p.TG271del|PTPN18_uc002tre.2_In_Frame_Del_p.TG29del NM_014369 NP_055184 Q99952 PTN18_HUMAN protein tyrosine phosphatase, non-receptor type 378_379 Missing (in Ref. 1; CAA56105). cytoplasm|nucleus non-membrane spanning protein tyrosine phosphatase activity ovary(3)|kidney(1) 4 Colorectal(110;0.1) gtgggacgcagacggggacggggacg 0.568 4 2 --- --- --- --- THSD7B 80731 broad.mit.edu 37 2 137990482 137990483 + Frame_Shift_Ins INS - C C TCGA-43-3394-01A-01D-0983-08 TCGA-43-3394-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx bb72e789-f8ad-4ab5-805b-a9ac21cef0e3 37a26c5a-bbbc-4403-81b3-5c5510ee3432 g.chr2:137990482_137990483insC uc002tva.1 + 8 1836_1837 c.1836_1837insC c.(1834-1839)TGTCCCfs p.C612fs THSD7B_uc010zbj.1_Intron|THSD7B_uc002tvb.2_Frame_Shift_Ins_p.C502fs NM_001080427 NP_001073896 thrombospondin, type I, domain containing 7B ovary(4)|central_nervous_system(2)|pancreas(1) 7 BRCA - Breast invasive adenocarcinoma(221;0.19) GAAAGCCATGTCCCCCTAGTCA 0.460 34 21 --- --- --- --- CCR3 1232 broad.mit.edu 37 3 46307342 46307343 + Frame_Shift_Ins INS - A A TCGA-43-3394-01A-01D-0983-08 TCGA-43-3394-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx bb72e789-f8ad-4ab5-805b-a9ac21cef0e3 37a26c5a-bbbc-4403-81b3-5c5510ee3432 g.chr3:46307342_46307343insA uc003cpg.1 + 4 1236_1237 c.693_694insA c.(691-696)AGTAAAfs p.S231fs CCR3_uc003cpi.1_Frame_Shift_Ins_p.S231fs|CCR3_uc003cpj.1_Frame_Shift_Ins_p.S231fs|CCR3_uc003cpk.1_Frame_Shift_Ins_p.S252fs|CCR3_uc010hjb.1_Frame_Shift_Ins_p.S249fs|CCR3_uc003cpl.1_Frame_Shift_Ins_p.S264fs NM_178329 NP_847899 P51677 CCR3_HUMAN CC chemokine receptor 3 isoform 1 231_232 Cytoplasmic (Potential). cell adhesion|cellular defense response|chemotaxis|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cAMP nucleotide second messenger|inflammatory response|interspecies interaction between organisms|positive regulation of angiogenesis integral to plasma membrane ovary(3)|lung(3)|breast(1)|kidney(1) 8 BRCA - Breast invasive adenocarcinoma(193;0.00119)|KIRC - Kidney renal clear cell carcinoma(197;0.0183)|Kidney(197;0.0216) GGTGCCCCAGTAAAAAAAAGTA 0.465 21 20 --- --- --- --- FRS3 10817 broad.mit.edu 37 6 41738856 41738856 + Frame_Shift_Del DEL G - - TCGA-43-3394-01A-01D-0983-08 TCGA-43-3394-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx bb72e789-f8ad-4ab5-805b-a9ac21cef0e3 37a26c5a-bbbc-4403-81b3-5c5510ee3432 g.chr6:41738856delG uc003orc.1 - 7 1224 c.980delC c.(979-981)CCAfs p.P327fs NM_006653 NP_006644 O43559 FRS3_HUMAN fibroblast growth factor receptor substrate 3 327 fibroblast growth factor receptor signaling pathway plasma membrane fibroblast growth factor receptor binding|insulin receptor binding ovary(2) 2 Ovarian(28;0.0355)|Colorectal(47;0.121) Epithelial(12;8.38e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152) AGGGGGCAGTGGGGGCAGGTT 0.677 18 10 --- --- --- --- C6orf153 88745 broad.mit.edu 37 6 42989414 42989419 + In_Frame_Del DEL GCCGGG - - rs3833662 TCGA-43-3394-01A-01D-0983-08 TCGA-43-3394-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx bb72e789-f8ad-4ab5-805b-a9ac21cef0e3 37a26c5a-bbbc-4403-81b3-5c5510ee3432 g.chr6:42989414_42989419delGCCGGG uc003otp.1 + 1 30_35 c.22_27delGCCGGG c.(22-27)GCCGGGdel p.AG14del NM_033112 NP_149103 Q96EU6 RRP36_HUMAN hypothetical protein LOC88745 14_15 ribosomal small subunit biogenesis|rRNA processing nucleolus 0 Colorectal(64;0.00237)|all cancers(41;0.0034)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0539)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188) TAACTAccgcgccggggccggggccg 0.529 3 3 --- --- --- --- TMEM184A 202915 broad.mit.edu 37 7 1586653 1586654 + In_Frame_Ins INS - GCC GCC rs140579959 by1000genomes TCGA-43-3394-01A-01D-0983-08 TCGA-43-3394-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx bb72e789-f8ad-4ab5-805b-a9ac21cef0e3 37a26c5a-bbbc-4403-81b3-5c5510ee3432 g.chr7:1586653_1586654insGCC uc003skv.3 - 9 1493_1494 c.1176_1177insGGC c.(1174-1179)insGGC p.392_393insG TMEM184A_uc003skt.3_In_Frame_Ins_p.371_372insG|TMEM184A_uc003skw.3_In_Frame_Ins_p.197_198insG NM_001097620 NP_001091089 Q6ZMB5 T184A_HUMAN transmembrane protein 184A 392_393 integral to membrane 0 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.88e-15) CTCCCGCCGGAGCCGCCGCTGG 0.708 9 4 --- --- --- --- SSPO 23145 broad.mit.edu 37 7 149512845 149512846 + Frame_Shift_Ins INS - AGGTGGTC AGGTGGTC rs146626309 by1000genomes TCGA-43-3394-01A-01D-0983-08 TCGA-43-3394-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx bb72e789-f8ad-4ab5-805b-a9ac21cef0e3 37a26c5a-bbbc-4403-81b3-5c5510ee3432 g.chr7:149512845_149512846insAGGTGGTC uc010lpk.2 + 77 10852_10853 c.10852_10853insAGGTGGTC c.(10852-10854)GAGfs p.E3618fs NM_198455 NP_940857 A2VEC9 SSPO_HUMAN SCO-spondin precursor 3618 cell adhesion extracellular space peptidase inhibitor activity 0 Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) GGAACCCGGAGAGGTGGTCACT 0.653 5 3 --- --- --- --- RGS22 26166 broad.mit.edu 37 8 101076179 101076181 + In_Frame_Del DEL CTT - - TCGA-43-3394-01A-01D-0983-08 TCGA-43-3394-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx bb72e789-f8ad-4ab5-805b-a9ac21cef0e3 37a26c5a-bbbc-4403-81b3-5c5510ee3432 g.chr8:101076179_101076181delCTT uc003yjb.1 - 8 1010_1012 c.815_817delAAG c.(814-819)GAAGGA>GGA p.E272del RGS22_uc003yja.1_In_Frame_Del_p.E91del|RGS22_uc003yjc.1_In_Frame_Del_p.E260del|RGS22_uc011lgz.1_RNA|RGS22_uc010mbo.1_RNA NM_015668 NP_056483 Q8NE09 RGS22_HUMAN regulator of G-protein signaling 22 272 Poly-Glu. negative regulation of signal transduction cytoplasm|plasma membrane GTPase activator activity|signal transducer activity ovary(3)|skin(2)|breast(1)|central_nervous_system(1) 7 Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169) tcttcttctccttcttcttcttc 0.325 44 82 --- --- --- --- CDKN2A 1029 broad.mit.edu 37 9 21974819 21974819 + Frame_Shift_Del DEL G - - TCGA-43-3394-01A-01D-0983-08 TCGA-43-3394-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx bb72e789-f8ad-4ab5-805b-a9ac21cef0e3 37a26c5a-bbbc-4403-81b3-5c5510ee3432 g.chr9:21974819delG uc003zpk.2 - 1 220 c.8delC c.(7-9)CCGfs p.P3fs MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.2_Frame_Shift_Del_p.P3fs|CDKN2A_uc010miu.2_RNA|CDKN2A_uc003zpl.2_Intron NM_000077 NP_000068 P42771 CD2A1_HUMAN cyclin-dependent kinase inhibitor 2A isoform 1 3 cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence cytosol|nucleus cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein binding|protein kinase binding p.0?(1112)|p.?(24)|p.P3_P11del(2) haematopoietic_and_lymphoid_tissue(647)|skin(419)|upper_aerodigestive_tract(414)|central_nervous_system(381)|lung(325)|pancreas(244)|oesophagus(230)|urinary_tract(225)|pleura(94)|liver(91)|soft_tissue(79)|bone(77)|ovary(76)|biliary_tract(71)|stomach(46)|breast(46)|kidney(39)|NS(28)|thyroid(24)|cervix(23)|meninges(18)|genital_tract(15)|endometrium(13)|prostate(11)|autonomic_ganglia(10)|salivary_gland(10)|large_intestine(9)|adrenal_gland(6)|eye(4)|vulva(2)|small_intestine(1) 3678 all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172) all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05) CCCCGCCGCCGGCTCCATGCT 0.781 17 Uveal_Melanoma_Familial|Familial_Malignant_Melanoma_and_Tumors_of_the_Nervous_System|Hereditary_Melanoma HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07) 5 3 --- --- --- --- LRRC16B 90668 broad.mit.edu 37 14 24534457 24534457 + Frame_Shift_Del DEL G - - TCGA-43-3394-01A-01D-0983-08 TCGA-43-3394-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx bb72e789-f8ad-4ab5-805b-a9ac21cef0e3 37a26c5a-bbbc-4403-81b3-5c5510ee3432 g.chr14:24534457delG uc001wlj.2 + 33 3528 c.3371delG c.(3370-3372)CGGfs p.R1124fs LRRC16B_uc001wlk.2_Frame_Shift_Del_p.R220fs NM_138360 NP_612369 Q8ND23 LR16B_HUMAN leucine rich repeat containing 16B 1124 ovary(2)|breast(2)|pancreas(1) 5 GBM - Glioblastoma multiforme(265;0.019) GGTGGGGGCCGGGGACCTTCC 0.637 4 2 --- --- --- --- BCL8 606 broad.mit.edu 37 15 20871163 20871164 + RNA INS - AA AA rs142973274 TCGA-43-3394-01A-01D-0983-08 TCGA-43-3394-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx bb72e789-f8ad-4ab5-805b-a9ac21cef0e3 37a26c5a-bbbc-4403-81b3-5c5510ee3432 g.chr15:20871163_20871164insAA uc010tzd.1 - 4 c.1923_1924insTT Homo sapiens mRNA; cDNA DKFZp686P1536 (from clone DKFZp686P1536). 0 CTTATAGAGCCAGAGGCAAGTG 0.550 4 2 --- --- --- --- TP53 7157 broad.mit.edu 37 17 7576904 7576904 + Frame_Shift_Del DEL G - - TCGA-43-3394-01A-01D-0983-08 TCGA-43-3394-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx bb72e789-f8ad-4ab5-805b-a9ac21cef0e3 37a26c5a-bbbc-4403-81b3-5c5510ee3432 g.chr17:7576904delG uc002gim.2 - 9 1136 c.942delC c.(940-942)TCCfs p.S314fs TP53_uc002gig.1_Intron|TP53_uc002gih.2_Frame_Shift_Del_p.S314fs|TP53_uc010cne.1_RNA|TP53_uc010cnf.1_Frame_Shift_Del_p.S182fs|TP53_uc010cng.1_Frame_Shift_Del_p.S182fs|TP53_uc002gii.1_Frame_Shift_Del_p.S182fs|TP53_uc010cnh.1_Frame_Shift_Del_p.S314fs|TP53_uc010cni.1_Frame_Shift_Del_p.S314fs|TP53_uc002gij.2_Frame_Shift_Del_p.S314fs NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 314 Bipartite nuclear localization signal.|Interaction with HIPK1 (By similarity).|Interaction with CARM1. S -> F (in a sporadic cancer; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.0?(7)|p.S315fs*22(2)|p.S315fs*30(1)|p.?(1)|p.S314F(1)|p.S314fs*25(1)|p.L308fs*15(1) large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1) 22245 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) GCTGGGGAGAGGAGCTGGTGT 0.478 111 Mis|N|F breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types Other_conserved_DNA_damage_response_genes Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 18 27 --- --- --- --- GIPC3 126326 broad.mit.edu 37 19 3590186 3590187 + Frame_Shift_Ins INS - A A TCGA-43-3394-01A-01D-0983-08 TCGA-43-3394-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx bb72e789-f8ad-4ab5-805b-a9ac21cef0e3 37a26c5a-bbbc-4403-81b3-5c5510ee3432 g.chr19:3590186_3590187insA uc002lyd.3 + 6 964_965 c.937_938insA c.(937-939)TAGfs p.*313fs NM_133261 NP_573568 Q8TF64 GIPC3_HUMAN GIPC PDZ domain containing family, member 3 313 breast(1) 1 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0025)|STAD - Stomach adenocarcinoma(1328;0.18) GGCCTGTGGCTAGTTTGCCCTG 0.421 4 2 --- --- --- --- IL12RB1 3594 broad.mit.edu 37 19 18186558 18186558 + Splice_Site DEL C - - TCGA-43-3394-01A-01D-0983-08 TCGA-43-3394-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx bb72e789-f8ad-4ab5-805b-a9ac21cef0e3 37a26c5a-bbbc-4403-81b3-5c5510ee3432 g.chr19:18186558delC uc002nhw.1 - 7 764 c.700_splice c.e7+1 p.E234_splice IL12RB1_uc010xqb.1_Splice_Site_p.E234_splice|IL12RB1_uc002nhx.1_Splice_Site_p.E274_splice|IL12RB1_uc002nhy.2_Splice_Site_p.E234_splice NM_005535 NP_005526 P42701 I12R1_HUMAN interleukin 12 receptor, beta 1 isoform 1 cellular response to interferon-gamma|interleukin-12-mediated signaling pathway|positive regulation of activated T cell proliferation|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of memory T cell 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 interleukin-12 receptor complex|interleukin-23 receptor complex cytokine receptor activity pancreas(1) 1 AGTGATCTTACCAGGGGGAAC 0.428 21 18 --- --- --- --- Unknown 0 broad.mit.edu 37 19 37673417 37673417 + RNA DEL A - - TCGA-43-3394-01A-01D-0983-08 TCGA-43-3394-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx bb72e789-f8ad-4ab5-805b-a9ac21cef0e3 37a26c5a-bbbc-4403-81b3-5c5510ee3432 g.chr19:37673417delA uc002ofp.1 - 1 c.1504delT Homo sapiens cDNA FLJ33255 fis, clone ASTRO2005553. GAAGGGAGGTAATGGGTGAGC 0.433 4 2 --- --- --- --- Unknown 0 broad.mit.edu 37 21 43720386 43720387 + RNA DEL GT - - TCGA-43-3394-01A-01D-0983-08 TCGA-43-3394-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx bb72e789-f8ad-4ab5-805b-a9ac21cef0e3 37a26c5a-bbbc-4403-81b3-5c5510ee3432 g.chr21:43720386_43720387delGT uc002zau.2 + 1 c.1283_1284delGT Homo sapiens EST from clone 208499, full insert. ACAGGGGCTGgtgtgtgtgtgt 0.317 4 2 --- --- --- --- Unknown 0 broad.mit.edu 37 22 17229222 17229223 + RNA DEL CC - - TCGA-43-3394-01A-01D-0983-08 TCGA-43-3394-10A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx bb72e789-f8ad-4ab5-805b-a9ac21cef0e3 37a26c5a-bbbc-4403-81b3-5c5510ee3432 g.chr22:17229222_17229223delCC uc002zlu.2 - 1 c.106_107delGG Homo sapiens cDNA clone IMAGE:3920443, partial cds. tccccggactccgtctgctgtt 0.000 5 3 --- --- --- ---