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 PRDM16 63976 broad.mit.edu 37 1 3328212 3328212 + Missense_Mutation SNP G T T TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr1:3328212G>T uc001akf.2 + 9 1531 c.1451G>T c.(1450-1452)GGC>GTC p.G484V PRDM16_uc001akc.2_Missense_Mutation_p.G484V|PRDM16_uc001akd.2_Missense_Mutation_p.G484V|PRDM16_uc001ake.2_Missense_Mutation_p.G484V|PRDM16_uc009vlh.2_Missense_Mutation_p.G185V NM_022114 NP_071397 Q9HAZ2 PRD16_HUMAN PR domain containing 16 isoform 1 484 Pro-rich. brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent transcriptional repressor complex protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding lung(3)|ovary(1)|breast(1)|central_nervous_system(1)|skin(1) 7 all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111) all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134) Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137) GCCAGCCTGGGCTTCAACGAG 0.687 T EVI1 MDS|AML 17 24 --- --- --- --- PASS CLSTN1 22883 broad.mit.edu 37 1 9791432 9791432 + Silent SNP C A A TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr1:9791432C>A uc001aqh.2 - 18 3339 c.2580G>T c.(2578-2580)GCG>GCT p.A860A CLSTN1_uc001aqi.2_Silent_p.A850A|CLSTN1_uc010oag.1_Silent_p.A841A|CLSTN1_uc001aqf.2_Silent_p.A96A NM_001009566 NP_001009566 O94985 CSTN1_HUMAN calsyntenin 1 isoform 1 860 Helical; (Potential). homophilic cell adhesion cell junction|cell projection|endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus|postsynaptic membrane calcium ion binding skin(1) 1 all_lung(157;0.222) all_lung(284;4.03e-05)|Lung NSC(185;6.93e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;8.36e-08)|COAD - Colon adenocarcinoma(227;1.93e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|STAD - Stomach adenocarcinoma(132;0.00644)|READ - Rectum adenocarcinoma(331;0.0419) TCACAACTGTCGCAGTGCTGG 0.627 13 19 --- --- --- --- PASS MTOR 2475 broad.mit.edu 37 1 11187830 11187830 + Missense_Mutation SNP A C C TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr1:11187830A>C uc001asd.2 - 44 6188 c.6067T>G c.(6067-6069)TGG>GGG p.W2023G MTOR_uc001asc.2_Missense_Mutation_p.W228G NM_004958 NP_004949 P42345 MTOR_HUMAN FK506 binding protein 12-rapamycin associated 2023 cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex ATP binding|phosphoprotein binding|protein serine/threonine kinase activity central_nervous_system(7)|lung(6)|ovary(6)|skin(3)|kidney(3)|large_intestine(2)|breast(2) 29 ATCTCATGCCAGAGGATGGCC 0.517 10 105 --- --- --- --- PASS EPHB2 2048 broad.mit.edu 37 1 23240007 23240007 + Missense_Mutation SNP A T T TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr1:23240007A>T uc009vqj.1 + 16 3050 c.2905A>T c.(2905-2907)AAC>TAC p.N969Y EPHB2_uc001bge.2_Missense_Mutation_p.N970Y|EPHB2_uc001bgf.2_Missense_Mutation_p.N969Y|EPHB2_uc010odu.1_Missense_Mutation_p.N911Y NM_017449 NP_059145 P29323 EPHB2_HUMAN ephrin receptor EphB2 isoform 1 precursor 969 Cytoplasmic (Potential).|SAM. axon guidance integral to plasma membrane ATP binding|transmembrane-ephrin receptor activity ovary(3)|lung(1)|pancreas(1) 5 Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258) UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153) AAAAATCCTGAACAGTATCCA 0.557 Hereditary_Prostate_Cancer 8 20 --- --- --- --- PASS HMGB4 127540 broad.mit.edu 37 1 34330035 34330035 + Missense_Mutation SNP G T T TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr1:34330035G>T uc001bxp.2 + 2 1986 c.243G>T c.(241-243)AAG>AAT p.K81N CSMD2_uc001bxm.1_Intron|CSMD2_uc001bxn.1_Intron|HMGB4_uc001bxq.2_Missense_Mutation_p.K7N NM_145205 NP_660206 Q8WW32 HMGB4_HUMAN HMG2 like isoform 1 81 nucleus DNA binding 0 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211) ATGTTGGCAAGAGGAAGAAAC 0.493 6 96 --- --- --- --- PASS SNIP1 79753 broad.mit.edu 37 1 38019758 38019758 + Missense_Mutation SNP C A A TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr1:38019758C>A uc001cbi.2 - 1 146 c.73G>T c.(73-75)GCG>TCG p.A25S SNIP1_uc010oid.1_RNA|DNALI1_uc001cbj.2_5'Flank|DNALI1_uc010oie.1_5'Flank NM_024700 NP_078976 Q8TAD8 SNIP1_HUMAN Smad nuclear interacting protein 25 production of miRNAs involved in gene silencing by miRNA nucleus protein binding upper_aerodigestive_tract(1)|lung(1) 2 Myeloproliferative disorder(586;0.0393) ACCACCCCCGCCGGCAGCACC 0.672 7 4 --- --- --- --- PASS CDC20 991 broad.mit.edu 37 1 43825396 43825396 + Missense_Mutation SNP G A A TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr1:43825396G>A uc001cix.2 + 4 432 c.331G>A c.(331-333)GAA>AAA p.E111K CDC20_uc001ciy.2_Missense_Mutation_p.E111K NM_001255 NP_001246 Q12834 CDC20_HUMAN cell division cycle 20 111 activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of synapse maturation|positive regulation of synaptic plasticity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle cytosol|nucleoplasm|spindle enzyme binding|protein C-terminus binding 0 all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0333) TTTATGCCAGGAACATCAGAA 0.502 60 94 --- --- --- --- PASS CYP4X1 260293 broad.mit.edu 37 1 47504418 47504418 + Missense_Mutation SNP G T T TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr1:47504418G>T uc001cqt.2 + 7 1112 c.862G>T c.(862-864)GAT>TAT p.D288Y CYP4X1_uc001cqr.2_Missense_Mutation_p.D287Y|CYP4X1_uc001cqs.2_Missense_Mutation_p.D223Y NM_178033 NP_828847 Q8N118 CP4X1_HUMAN cytochrome P450, family 4, subfamily X, 288 endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding ovary(1)|skin(1) 2 GGATTTTCTGGATATTGTCCT 0.423 12 25 --- --- --- --- PASS C1orf173 127254 broad.mit.edu 37 1 75055611 75055611 + Missense_Mutation SNP T C C TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr1:75055611T>C uc001dgg.2 - 12 2099 c.1880A>G c.(1879-1881)GAT>GGT p.D627G uc001dgh.2_Intron|C1orf173_uc001dgi.3_Missense_Mutation_p.D421G NM_001002912 NP_001002912 Q5RHP9 CA173_HUMAN hypothetical protein LOC127254 627 Glu-rich. ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1) 5 TCTTGGCTTATCATTTTCACT 0.453 3 67 --- --- --- --- PASS EVI5 7813 broad.mit.edu 37 1 92979449 92979449 + Nonsense_Mutation SNP C A A TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr1:92979449C>A uc001dox.2 - 18 2207 c.2197G>T c.(2197-2199)GGA>TGA p.G733* EVI5_uc010otf.1_Nonsense_Mutation_p.G744* NM_005665 NP_005656 O60447 EVI5_HUMAN ecotropic viral integration site 5 733 Targeting to the centrosomes.|Interaction with AURKB and INCENP. cell cycle|cell division|cell proliferation|multicellular organismal development microtubule organizing center|nucleus|spindle protein binding|Rab GTPase activator activity ovary(1)|breast(1) 2 all_lung(203;0.00146)|Lung NSC(277;0.00565)|all_neural(321;0.185)|Melanoma(281;0.193)|Glioma(108;0.203) Epithelial(280;8.09e-25)|OV - Ovarian serous cystadenocarcinoma(397;1.27e-22)|all cancers(265;1.74e-21)|GBM - Glioblastoma multiforme(16;0.00233)|BRCA - Breast invasive adenocarcinoma(282;0.211) TCATCATCTCCTATTAAATGG 0.408 4 28 --- --- --- --- PASS COL11A1 1301 broad.mit.edu 37 1 103355028 103355028 + Nonsense_Mutation SNP C A A TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr1:103355028C>A uc001dul.2 - 59 4765 c.4447G>T c.(4447-4449)GGA>TGA p.G1483* COL11A1_uc001duk.2_Nonsense_Mutation_p.G679*|COL11A1_uc001dum.2_Nonsense_Mutation_p.G1495*|COL11A1_uc001dun.2_Nonsense_Mutation_p.G1444*|COL11A1_uc009weh.2_Nonsense_Mutation_p.G1367* NM_001854 NP_001845 P12107 COBA1_HUMAN alpha 1 type XI collagen isoform A 1483 Triple-helical region. collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1) 12 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) CCTTTTGCTCCTGGAGATCCT 0.383 24 27 --- --- --- --- PASS CSF1 1435 broad.mit.edu 37 1 110466223 110466223 + Missense_Mutation SNP G T T TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr1:110466223G>T uc001dyu.2 + 6 1393 c.980G>T c.(979-981)AGG>ATG p.R327M CSF1_uc001dyt.2_Missense_Mutation_p.R327M|CSF1_uc001dyv.3_Intron|CSF1_uc001dyw.3_Missense_Mutation_p.R327M NM_172212 NP_757351 P09603 CSF1_HUMAN colony stimulating factor 1 isoform a precursor 327 Lumenal (Potential). cell proliferation|developmental process involved in reproduction|macrophage differentiation|monocyte activation|osteoclast differentiation|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of cellular protein metabolic process|positive regulation of gene expression|positive regulation of macrophage derived foam cell differentiation|positive regulation of macrophage differentiation|positive regulation of monocyte differentiation|positive regulation of mononuclear cell proliferation|positive regulation of protein kinase activity extracellular space|integral to membrane|perinuclear region of cytoplasm|plasma membrane|receptor complex cytokine activity|growth factor activity|macrophage colony-stimulating factor receptor binding|protein homodimerization activity ovary(1) 1 all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Acute lymphoblastic leukemia(138;0.204) Lung(183;0.0238)|Colorectal(144;0.112)|all cancers(265;0.117)|Epithelial(280;0.127)|LUSC - Lung squamous cell carcinoma(189;0.135) TCCCCCTCCAGGCCAGGAGGG 0.592 OREG0013645 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 16 22 --- --- --- --- PASS CTTNBP2NL 55917 broad.mit.edu 37 1 112999425 112999425 + Missense_Mutation SNP A T T TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr1:112999425A>T uc001ebx.2 + 6 1539 c.1311A>T c.(1309-1311)TTA>TTT p.L437F CTTNBP2NL_uc001ebz.2_5'Flank NM_018704 NP_061174 Q9P2B4 CT2NL_HUMAN CTTNBP2 N-terminal like 437 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) CTAAGCGTTTATTGGGGTCAT 0.552 51 110 --- --- --- --- PASS THEM4 117145 broad.mit.edu 37 1 151861829 151861829 + Missense_Mutation SNP C T T TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr1:151861829C>T uc001ezj.1 - 3 486 c.307G>A c.(307-309)GAA>AAA p.E103K THEM4_uc001ezk.1_RNA NM_053055 NP_444283 Q5T1C6 THEM4_HUMAN thioesterase superfamily member 4 103 insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling cytosol|ruffle membrane 0 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14) LUSC - Lung squamous cell carcinoma(543;0.181) GACATTTGTTCTTCTTTCATA 0.453 21 31 --- --- --- --- PASS S100A11 6282 broad.mit.edu 37 1 152006196 152006196 + Silent SNP A G G TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr1:152006196A>G uc001ezn.2 - 2 204 c.84T>C c.(82-84)GAT>GAC p.D28D uc001ezm.1_Intron NM_005620 NP_005611 P31949 S10AB_HUMAN S100 calcium binding protein A11 28 1; low affinity (Potential).|EF-hand 1. negative regulation of cell proliferation|negative regulation of DNA replication|signal transduction cytoplasm|nucleus|ruffle calcium ion binding|calcium-dependent protein binding|protein homodimerization activity|S100 beta binding 0 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.246) AGTTATAACCATCCTTTCCAG 0.473 29 50 --- --- --- --- PASS FLG2 388698 broad.mit.edu 37 1 152328465 152328465 + Silent SNP G T T TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr1:152328465G>T uc001ezw.3 - 3 1870 c.1797C>A c.(1795-1797)GGC>GGA p.G599G uc001ezv.2_Intron NM_001014342 NP_001014364 Q5D862 FILA2_HUMAN filaggrin family member 2 599 Ser-rich. calcium ion binding|structural molecule activity ovary(10)|skin(5)|upper_aerodigestive_tract(1)|breast(1) 17 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) ATTGTCCTGAGCCAGACCCAT 0.522 76 122 --- --- --- --- PASS YY1AP1 55249 broad.mit.edu 37 1 155657886 155657886 + Missense_Mutation SNP G T T TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr1:155657886G>T uc001fln.2 - 2 178 c.154C>A c.(154-156)CTC>ATC p.L52I YY1AP1_uc010pgi.1_Missense_Mutation_p.L124I|YY1AP1_uc001flh.2_Missense_Mutation_p.L124I|YY1AP1_uc009wqt.2_5'UTR|YY1AP1_uc001flk.2_5'UTR|YY1AP1_uc001fll.2_Intron|YY1AP1_uc009wqv.2_5'UTR|YY1AP1_uc001flm.2_5'UTR|YY1AP1_uc001fli.2_5'UTR|YY1AP1_uc009wqu.2_5'UTR|YY1AP1_uc001flj.2_5'UTR|YY1AP1_uc009wqw.2_5'UTR|YY1AP1_uc001flo.2_Intron|YY1AP1_uc001flp.2_Intron|YY1AP1_uc010pgj.1_Missense_Mutation_p.L52I|YY1AP1_uc009wqx.2_Missense_Mutation_p.L124I|YY1AP1_uc010pgk.1_Missense_Mutation_p.L124I|DAP3_uc001flq.2_5'Flank|DAP3_uc001flr.2_5'Flank|DAP3_uc001fls.2_5'Flank|DAP3_uc010pgl.1_5'Flank|DAP3_uc001flt.2_5'Flank|DAP3_uc001flu.2_5'Flank|DAP3_uc010pgm.1_5'Flank NM_139118 NP_620829 Q9H869 YYAP1_HUMAN YY1-associated protein isoform 2 52 regulation of cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus protein binding ovary(2)|skin(1) 3 Hepatocellular(266;0.0997)|all_hematologic(923;0.145) AGAGCGATGAGAGTACAGGGA 0.642 5 35 --- --- --- --- PASS ARHGEF11 9826 broad.mit.edu 37 1 156926247 156926247 + Missense_Mutation SNP C A A TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr1:156926247C>A uc001fqo.2 - 18 2556 c.1516G>T c.(1516-1518)GAC>TAC p.D506Y ARHGEF11_uc001fqn.2_Missense_Mutation_p.D546Y|ARHGEF11_uc001fqp.1_Missense_Mutation_p.D35Y NM_014784 NP_055599 O15085 ARHGB_HUMAN Rho guanine nucleotide exchange factor (GEF) 11 506 actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction cytosol|Golgi apparatus|plasma membrane G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity ovary(3)|skin(2)|pleura(1)|lung(1)|kidney(1)|pancreas(1) 9 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) AGCCACTTGTCCTTGTCAGGA 0.383 55 33 --- --- --- --- PASS OR10T2 128360 broad.mit.edu 37 1 158369188 158369188 + Silent SNP C T T TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr1:158369188C>T uc010pih.1 - 1 69 c.69G>A c.(67-69)GAG>GAA p.E23E NM_001004475 NP_001004475 Q8NGX3 O10T2_HUMAN olfactory receptor, family 10, subfamily T, 23 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|central_nervous_system(1) 3 all_hematologic(112;0.0378) GCAGCTGGAGCTCCCCCAGGC 0.478 6 24 --- --- --- --- PASS NUF2 83540 broad.mit.edu 37 1 163295923 163295923 + Missense_Mutation SNP G T T TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr1:163295923G>T uc001gcq.1 + 2 382 c.82G>T c.(82-84)GGT>TGT p.G28C NUF2_uc001gcp.2_Missense_Mutation_p.G28C|NUF2_uc001gcr.1_Missense_Mutation_p.G28C|NUF2_uc009wvc.1_Missense_Mutation_p.G28C NM_145697 NP_663735 Q9BZD4 NUF2_HUMAN NUF2, NDC80 kinetochore complex component 28 Interaction with the N-terminus of NDC80. cell division|chromosome segregation|mitotic prometaphase condensed chromosome kinetochore|cytosol|Ndc80 complex|nucleus protein binding ovary(3)|skin(1) 4 all_hematologic(923;0.101) AGGAGCTGATGGTAAAAACCT 0.358 5 67 --- --- --- --- PASS MAEL 84944 broad.mit.edu 37 1 166990397 166990397 + Missense_Mutation SNP G T T TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr1:166990397G>T uc001gdy.1 + 11 1188 c.1117G>T c.(1117-1119)GGT>TGT p.G373C MAEL_uc001gdz.1_Missense_Mutation_p.G342C|MAEL_uc009wvf.1_RNA NM_032858 NP_116247 Q96JY0 MAEL_HUMAN maelstrom homolog 373 cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|multicellular organismal development|piRNA metabolic process|spermatogenesis piP-body DNA binding skin(1) 1 CACACCCATTGGTAAGCAACT 0.363 5 42 --- --- --- --- PASS POU2F1 5451 broad.mit.edu 37 1 167301757 167301757 + Missense_Mutation SNP G A A TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr1:167301757G>A uc001gec.2 + 3 205 c.43G>A c.(43-45)GGA>AGA p.G15R POU2F1_uc010plg.1_RNA|POU2F1_uc001ged.2_5'UTR|POU2F1_uc001gee.2_Missense_Mutation_p.G15R|POU2F1_uc010plh.1_Missense_Mutation_p.G15R|POU2F1_uc001gef.2_Missense_Mutation_p.G27R NM_002697 NP_002688 P14859 PO2F1_HUMAN POU class 2 homeobox 1 15 negative regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter nucleoplasm protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(2)|skin(2)|breast(1) 5 TATGGAGAGTGGAGATGGCAA 0.373 4 55 --- --- --- --- PASS BAT2L2 23215 broad.mit.edu 37 1 171509367 171509367 + Missense_Mutation SNP C T T TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr1:171509367C>T uc010pmg.1 + 16 3022 c.2756C>T c.(2755-2757)CCT>CTT p.P919L BAT2L2_uc010pmh.1_5'UTR NM_015172 NP_055987 Q9Y520 PRC2C_HUMAN HBxAg transactivated protein 2 919 protein C-terminus binding 0 GAAAGTCAGCCTTCCCGGAAA 0.453 12 70 --- --- --- --- PASS PAPPA2 60676 broad.mit.edu 37 1 176564488 176564488 + Missense_Mutation SNP T A A TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr1:176564488T>A uc001gkz.2 + 3 2912 c.1748T>A c.(1747-1749)CTT>CAT p.L583H PAPPA2_uc001gky.1_Missense_Mutation_p.L583H|PAPPA2_uc009www.2_RNA NM_020318 NP_064714 Q9BXP8 PAPP2_HUMAN pappalysin 2 isoform 1 583 Metalloprotease. cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1) 16 CGGGTTGTGCTTGTGAACTGT 0.597 74 54 --- --- --- --- PASS FAM5B 57795 broad.mit.edu 37 1 177247876 177247876 + Missense_Mutation SNP G A A TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr1:177247876G>A uc001glf.2 + 7 1502 c.1190G>A c.(1189-1191)TGC>TAC p.C397Y FAM5B_uc010pna.1_Missense_Mutation_p.C147Y|FAM5B_uc001glg.2_Missense_Mutation_p.C292Y NM_021165 NP_066988 Q9C0B6 FAM5B_HUMAN family with sequence similarity 5, member B 397 extracellular region skin(3)|ovary(2)|upper_aerodigestive_tract(1) 6 TTCAACCTCTGCAAGCGCTGC 0.617 48 48 --- --- --- --- PASS C1orf125 126859 broad.mit.edu 37 1 179462086 179462086 + Missense_Mutation SNP G C C TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr1:179462086G>C uc001gmo.2 + 20 2515 c.2388G>C c.(2386-2388)AAG>AAC p.K796N C1orf125_uc009wxg.2_RNA|C1orf125_uc001gmp.2_Missense_Mutation_p.K796N|C1orf125_uc009wxh.2_RNA NM_144696 NP_653297 Q5T1B0 AXDN1_HUMAN hypothetical protein LOC126859 isoform 1 796 0 ATAAGTTGAAGGTAATAACTC 0.279 26 35 --- --- --- --- PASS TDRD5 163589 broad.mit.edu 37 1 179632621 179632621 + Nonsense_Mutation SNP C T T TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr1:179632621C>T uc001gnf.1 + 15 2732 c.2482C>T c.(2482-2484)CAA>TAA p.Q828* TDRD5_uc010pnp.1_Nonsense_Mutation_p.Q882*|TDRD5_uc001gnh.1_Nonsense_Mutation_p.Q383* NM_173533 NP_775804 Q8NAT2 TDRD5_HUMAN tudor domain containing 5 828 DNA methylation involved in gamete generation|P granule organization|spermatid development chromatoid body|pi-body nucleic acid binding ovary(2)|skin(2)|central_nervous_system(1) 5 AAACAGGACTCAAAAGGTAAA 0.348 19 26 --- --- --- --- PASS SMG7 9887 broad.mit.edu 37 1 183518931 183518931 + Missense_Mutation SNP G T T TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr1:183518931G>T uc001gqg.2 + 19 2978 c.2856G>T c.(2854-2856)GAG>GAT p.E952D SMG7_uc001gqf.2_Missense_Mutation_p.E956D|SMG7_uc001gqh.2_Missense_Mutation_p.E906D|SMG7_uc001gqi.2_Missense_Mutation_p.E864D|SMG7_uc010poc.1_Missense_Mutation_p.E960D NM_173156 NP_775179 Q92540 SMG7_HUMAN SMG-7 homolog isoform 1 952 Ser-rich. mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation cytoplasm|intermediate filament cytoskeleton|nucleus protein phosphatase 2A binding upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 3 TGTTCAATGAGGTATATGGGA 0.418 5 85 --- --- --- --- PASS C1orf26 54823 broad.mit.edu 37 1 185143653 185143653 + Missense_Mutation SNP A G G TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr1:185143653A>G uc001grg.3 + 5 488 c.374A>G c.(373-375)CAT>CGT p.H125R C1orf26_uc001grh.3_Missense_Mutation_p.H125R NM_001105518 NP_001098988 Q5T5J6 SWT1_HUMAN hypothetical protein LOC54823 125 0 AAAGACATACATAAATGTGTA 0.328 20 19 --- --- --- --- PASS PLA2G4A 5321 broad.mit.edu 37 1 186946790 186946790 + Silent SNP T C C TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr1:186946790T>C uc001gsc.2 + 16 2035 c.1830T>C c.(1828-1830)TAT>TAC p.Y610Y PLA2G4A_uc010pos.1_Silent_p.Y550Y NM_024420 NP_077734 P47712 PA24A_HUMAN cytosolic phospholipase A2, group IVA 610 PLA2c. phospholipid catabolic process|platelet activating factor biosynthetic process|platelet activation cytosol|endoplasmic reticulum membrane calcium ion binding|calcium-dependent phospholipid binding|lysophospholipase activity lung(2)|breast(1) 3 Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Medrysone(DB00253)|Quinacrine(DB01103) TTGATCCTTATGTGTTTGATC 0.413 9 66 --- --- --- --- PASS KIF21B 23046 broad.mit.edu 37 1 200946367 200946367 + Missense_Mutation SNP T A A TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr1:200946367T>A uc001gvs.1 - 31 4615 c.4298A>T c.(4297-4299)AAT>ATT p.N1433I KIF21B_uc001gvr.1_Missense_Mutation_p.N1420I|KIF21B_uc009wzl.1_Missense_Mutation_p.N1433I|KIF21B_uc010ppn.1_Missense_Mutation_p.N1420I NM_017596 NP_060066 O75037 KI21B_HUMAN kinesin family member 21B 1433 WD 3. microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity ovary(3)|skin(3) 6 GCGGACGGCATTGCCCGAGGC 0.637 8 75 --- --- --- --- PASS KDM5B 10765 broad.mit.edu 37 1 202711560 202711560 + Missense_Mutation SNP A G G TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr1:202711560A>G uc001gyf.2 - 18 2664 c.2548T>C c.(2548-2550)TAT>CAT p.Y850H KDM5B_uc009xag.2_Missense_Mutation_p.Y886H|KDM5B_uc001gyg.1_Missense_Mutation_p.Y692H NM_006618 NP_006609 Q9UGL1 KDM5B_HUMAN jumonji, AT rich interactive domain 1B 850 negative regulation of transcription, DNA-dependent nucleolus DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding ovary(2)|breast(2)|urinary_tract(1) 5 GGAAGAGCATACAGCTGTGTT 0.433 12 78 --- --- --- --- PASS PIGR 5284 broad.mit.edu 37 1 207107865 207107865 + Silent SNP G T T TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr1:207107865G>T uc001hez.2 - 6 1789 c.1605C>A c.(1603-1605)ACC>ACA p.T535T PIGR_uc009xbz.2_Silent_p.T535T NM_002644 NP_002635 P01833 PIGR_HUMAN polymeric immunoglobulin receptor precursor 535 Ig-like V-type 5.|Extracellular (Potential). extracellular region|integral to plasma membrane protein binding ovary(1)|central_nervous_system(1)|skin(1) 3 CATCAGCCCTGGTCACCAGGT 0.612 14 62 --- --- --- --- PASS PIGR 5284 broad.mit.edu 37 1 207107996 207107996 + Nonsense_Mutation SNP C A A TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr1:207107996C>A uc001hez.2 - 6 1658 c.1474G>T c.(1474-1476)GAG>TAG p.E492* PIGR_uc009xbz.2_Nonsense_Mutation_p.E492* NM_002644 NP_002635 P01833 PIGR_HUMAN polymeric immunoglobulin receptor precursor 492 Ig-like V-type 5.|Extracellular (Potential). extracellular region|integral to plasma membrane protein binding ovary(1)|central_nervous_system(1)|skin(1) 3 CAGTATTTCTCGTACGAGGAG 0.562 4 44 --- --- --- --- PASS USH2A 7399 broad.mit.edu 37 1 215848148 215848148 + Missense_Mutation SNP C A A TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr1:215848148C>A uc001hku.1 - 63 13492 c.13105G>T c.(13105-13107)GCC>TCC p.A4369S NM_206933 NP_996816 O75445 USH2A_HUMAN usherin isoform B 4369 Extracellular (Potential).|Fibronectin type-III 29. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1) 26 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) ATTTGAGTGGCACTGACGGCC 0.483 HNSCC(13;0.011) 22 22 --- --- --- --- PASS USH2A 7399 broad.mit.edu 37 1 215848713 215848713 + Missense_Mutation SNP G T T TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr1:215848713G>T uc001hku.1 - 63 12927 c.12540C>A c.(12538-12540)AAC>AAA p.N4180K NM_206933 NP_996816 O75445 USH2A_HUMAN usherin isoform B 4180 Extracellular (Potential).|Fibronectin type-III 27. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1) 26 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) TTCCATTTGGGTTAACAGGCT 0.488 HNSCC(13;0.011) 29 56 --- --- --- --- PASS USH2A 7399 broad.mit.edu 37 1 216405331 216405331 + Missense_Mutation SNP T A A TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr1:216405331T>A uc001hku.1 - 14 3344 c.2957A>T c.(2956-2958)AAA>ATA p.K986I USH2A_uc001hkv.2_Missense_Mutation_p.K986I NM_206933 NP_996816 O75445 USH2A_HUMAN usherin isoform B 986 Extracellular (Potential).|Laminin EGF-like 9. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1) 26 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) GTAATGGTCTTTGCATTGGTC 0.393 HNSCC(13;0.011) 21 137 --- --- --- --- PASS OBSCN 84033 broad.mit.edu 37 1 228437810 228437810 + Missense_Mutation SNP G T T TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr1:228437810G>T uc009xez.1 + 14 4222 c.4178G>T c.(4177-4179)AGC>ATC p.S1393I OBSCN_uc001hsn.2_Missense_Mutation_p.S1393I NM_001098623 NP_001092093 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and 1393 Poly-Ser.|Ig-like 14. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1) 28 Prostate(94;0.0405) CTGAGCTCCAGCTCGAAAGTT 0.672 6 84 --- --- --- --- PASS KIAA1804 84451 broad.mit.edu 37 1 233507859 233507859 + Missense_Mutation SNP G T T TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr1:233507859G>T uc001hvt.3 + 6 1889 c.1628G>T c.(1627-1629)AGT>ATT p.S543I KIAA1804_uc001hvs.1_Missense_Mutation_p.S543I NM_032435 NP_115811 Q5TCX8 M3KL4_HUMAN mixed lineage kinase 4 543 activation of JUN kinase activity|protein autophosphorylation ATP binding|MAP kinase kinase kinase activity|protein homodimerization activity lung(5)|central_nervous_system(2)|skin(1) 8 all_cancers(173;0.000405)|all_epithelial(177;0.0345)|Prostate(94;0.122) AGCAGTTCCAGTCCCCCGAGC 0.567 5 45 --- --- --- --- PASS WDR64 128025 broad.mit.edu 37 1 241901793 241901793 + Splice_Site SNP T C C TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr1:241901793T>C uc001hze.1 + 10 1498 c.1291_splice c.e10+2 p.G431_splice WDR64_uc001hzf.1_Splice_Site_p.G151_splice B1ANS9 WDR64_HUMAN RecName: Full=WD repeat-containing protein 64; skin(1) 1 Ovarian(103;0.103) all_cancers(173;0.0121) OV - Ovarian serous cystadenocarcinoma(106;0.0116) TTATTACGGGTAAGTGTACCC 0.368 7 27 --- --- --- --- PASS ZNF670 93474 broad.mit.edu 37 1 247202712 247202712 + Splice_Site SNP C A A TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr1:247202712C>A uc001icd.1 - 2 301 c.130_splice c.e2+1 p.G44_splice ZNF695_uc001ica.2_Intron|ZNF695_uc001icb.1_Intron NM_033213 NP_149990 Q9BS34 ZN670_HUMAN zinc finger protein 670 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518) all_cancers(173;0.0266) OV - Ovarian serous cystadenocarcinoma(106;0.00427) GTTATTCTTACCTACAGAAGC 0.313 13 35 --- --- --- --- PASS VN1R5 317705 broad.mit.edu 37 1 247419472 247419472 + Silent SNP T A A TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr1:247419472T>A uc010pyu.1 + 1 99 c.99T>A c.(97-99)CCT>CCA p.P33P NM_173858 NP_776257 Q7Z5H4 VN1R5_HUMAN vomeronasal 1 receptor 5 33 Cytoplasmic (Potential). response to pheromone integral to membrane|plasma membrane pheromone receptor activity 0 all_cancers(71;5.7e-05)|all_epithelial(71;1.03e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661) all_cancers(173;0.0314) OV - Ovarian serous cystadenocarcinoma(106;0.00854) TTAATTTTCCTTCTAAGATGA 0.333 7 58 --- --- --- --- PASS OR2C3 81472 broad.mit.edu 37 1 247695176 247695176 + Missense_Mutation SNP C A A TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr1:247695176C>A uc009xgy.2 - 2 1000 c.638G>T c.(637-639)GGG>GTG p.G213V C1orf150_uc009xgw.2_Intron|C1orf150_uc001ida.3_Intron|C1orf150_uc001idb.3_Intron|C1orf150_uc009xgx.2_Intron|LOC148824_uc001idd.2_5'Flank NM_198074 NP_932340 Q8N628 OR2C3_HUMAN olfactory receptor, family 2, subfamily C, 213 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.0242) OV - Ovarian serous cystadenocarcinoma(106;0.0241) CAGGATGAGCCCCAGAGGCAG 0.547 26 18 --- --- --- --- PASS OR13G1 441933 broad.mit.edu 37 1 247835814 247835814 + Missense_Mutation SNP T A A TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr1:247835814T>A uc001idi.1 - 1 530 c.530A>T c.(529-531)GAG>GTG p.E177V NM_001005487 NP_001005487 Q8NGZ3 O13G1_HUMAN olfactory receptor, family 13, subfamily G, 177 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.017) TGGGGGTATCTCACAGAAGAA 0.468 17 83 --- --- --- --- PASS OR2M2 391194 broad.mit.edu 37 1 248343551 248343551 + Silent SNP C A A TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr1:248343551C>A uc010pzf.1 + 1 264 c.264C>A c.(262-264)GGC>GGA p.G88G NM_001004688 NP_001004688 Q96R28 OR2M2_HUMAN olfactory receptor, family 2, subfamily M, 88 Extracellular (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) ACCTGTCTGGCAGCAAGTCCA 0.478 21 171 --- --- --- --- PASS OR2M3 127062 broad.mit.edu 37 1 248366465 248366465 + Silent SNP G C C TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr1:248366465G>C uc010pzg.1 + 1 96 c.96G>C c.(94-96)CTG>CTC p.L32L NM_001004689 NP_001004689 Q8NG83 OR2M3_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(1)|skin(1) 2 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) TTCTGGTCCTGGCCATCTTTT 0.532 25 125 --- --- --- --- PASS OR2T4 127074 broad.mit.edu 37 1 248525048 248525048 + Missense_Mutation SNP C A A TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr1:248525048C>A uc001ieh.1 + 1 166 c.166C>A c.(166-168)CCA>ACA p.P56T NM_001004696 NP_001004696 Q8NH00 OR2T4_HUMAN olfactory receptor, family 2, subfamily T, 56 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1) 1 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) ATCCAAACATCCAGCACTACT 0.483 15 102 --- --- --- --- PASS OR2T4 127074 broad.mit.edu 37 1 248525049 248525049 + Missense_Mutation SNP C T T TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr1:248525049C>T uc001ieh.1 + 1 167 c.167C>T c.(166-168)CCA>CTA p.P56L NM_001004696 NP_001004696 Q8NH00 OR2T4_HUMAN olfactory receptor, family 2, subfamily T, 56 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1) 1 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) TCCAAACATCCAGCACTACTT 0.483 15 103 --- --- --- --- PASS OR2T3 343173 broad.mit.edu 37 1 248637406 248637406 + Missense_Mutation SNP T C C TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr1:248637406T>C uc001iel.1 + 1 755 c.755T>C c.(754-756)ATA>ACA p.I252T NM_001005495 NP_001005495 Q8NH03 OR2T3_HUMAN olfactory receptor, family 2, subfamily T, 252 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) CACATGATCATAGTGCTGCTG 0.547 42 111 --- --- --- --- PASS MYT1L 23040 broad.mit.edu 37 2 1926334 1926334 + Missense_Mutation SNP C A A TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr2:1926334C>A uc002qxe.2 - 10 2034 c.1207G>T c.(1207-1209)GAT>TAT p.D403Y MYT1L_uc002qxd.2_Missense_Mutation_p.D403Y|MYT1L_uc010ewl.1_RNA NM_015025 NP_055840 Q9UL68 MYT1L_HUMAN myelin transcription factor 1-like 403 cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(5)|central_nervous_system(1) 6 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.037)|all_epithelial(98;0.241) OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244) TGACACCCATCCTCCTTCGCA 0.582 7 50 --- --- --- --- PASS NBAS 51594 broad.mit.edu 37 2 15374743 15374743 + Silent SNP C A A TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr2:15374743C>A uc002rcc.1 - 46 6098 c.6072G>T c.(6070-6072)GTG>GTT p.V2024V NBAS_uc002rcb.1_5'UTR|NBAS_uc010exl.1_Silent_p.V1096V|NBAS_uc002rcd.1_RNA NM_015909 NP_056993 A2RRP1 NBAS_HUMAN neuroblastoma-amplified protein 2024 ovary(2)|liver(1)|skin(1) 4 GGCCAACTGCCACCTCTAGCA 0.433 6 29 --- --- --- --- PASS CAD 790 broad.mit.edu 37 2 27454372 27454372 + Missense_Mutation SNP C T T TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr2:27454372C>T uc002rji.2 + 16 2486 c.2324C>T c.(2323-2325)GCC>GTC p.A775V CAD_uc010eyw.2_Missense_Mutation_p.A712V NM_004341 NP_004332 P27708 PYR1_HUMAN carbamoylphosphate synthetase 2/aspartate 775 CPSase (Carbamoyl-phosphate synthase).|CPSase A. 'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process cytosol|neuronal cell body|nuclear matrix|terminal button aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity ovary(4)|large_intestine(2)|kidney(2)|lung(1)|pancreas(1) 10 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) L-Aspartic Acid(DB00128)|L-Glutamine(DB00130) TTTGAGGAGGCCTTCCAGAAG 0.547 5 28 --- --- --- --- PASS C2orf16 84226 broad.mit.edu 37 2 27799968 27799968 + Missense_Mutation SNP A C C TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr2:27799968A>C uc002rkz.3 + 1 580 c.529A>C c.(529-531)AAA>CAA p.K177Q NM_032266 NP_115642 Q68DN1 CB016_HUMAN hypothetical protein LOC84226 177 large_intestine(1) 1 Acute lymphoblastic leukemia(172;0.155) TACTGTAGAGAAATCTGTGGG 0.418 5 46 --- --- --- --- PASS SUPT7L 9913 broad.mit.edu 37 2 27876565 27876565 + Missense_Mutation SNP C T T TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr2:27876565C>T uc002rlh.1 - 6 1375 c.1032G>A c.(1030-1032)ATG>ATA p.M344I SUPT7L_uc002rli.1_Missense_Mutation_p.M344I|SUPT7L_uc010ymf.1_Missense_Mutation_p.M209I|SUPT7L_uc002rlj.1_Missense_Mutation_p.M342I|SUPT7L_uc010ezh.1_Missense_Mutation_p.M342I NM_014860 NP_055675 O94864 ST65G_HUMAN SPTF-associated factor 65 gamma 344 histone H3 acetylation|maintenance of protein location in nucleus|regulation of transcription, DNA-dependent|transcription, DNA-dependent STAGA complex transcription coactivator activity skin(2) 2 Acute lymphoblastic leukemia(172;0.155) CTTGAGGCTCCATTTTCACAT 0.483 86 133 --- --- --- --- PASS CLIP4 79745 broad.mit.edu 37 2 29404610 29404610 + Missense_Mutation SNP G A A TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr2:29404610G>A uc002rmv.2 + 16 2208 c.1969G>A c.(1969-1971)GAG>AAG p.E657K CLIP4_uc002rmw.2_RNA NM_024692 NP_078968 Q8N3C7 CLIP4_HUMAN CAP-GLY domain containing linker protein family, 657 CAP-Gly 3. ovary(1) 1 Acute lymphoblastic leukemia(172;0.155) GCTTGGACTTGAGCTCCGAAG 0.537 28 54 --- --- --- --- PASS ABCG8 64241 broad.mit.edu 37 2 44078879 44078879 + Missense_Mutation SNP A G G TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr2:44078879A>G uc002rtq.2 + 4 569 c.479A>G c.(478-480)AAC>AGC p.N160S ABCG8_uc010yoa.1_Missense_Mutation_p.N160S NM_022437 NP_071882 Q9H221 ABCG8_HUMAN ATP-binding cassette sub-family G member 8 160 ABC transporter.|Cytoplasmic (Potential). cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption apical plasma membrane|integral to membrane ATP binding|ATPase activity|protein heterodimerization activity skin(3)|ovary(1) 4 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) CTGCTCCCCAACTTGACTGTG 0.602 10 83 --- --- --- --- PASS SRBD1 55133 broad.mit.edu 37 2 45616719 45616719 + Missense_Mutation SNP G T T TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr2:45616719G>T uc002rus.2 - 21 2794 c.2718C>A c.(2716-2718)TTC>TTA p.F906L SRBD1_uc010yoc.1_Missense_Mutation_p.F425L NM_018079 NP_060549 Q8N5C6 SRBD1_HUMAN S1 RNA binding domain 1 906 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process hydrolase activity, acting on ester bonds|RNA binding central_nervous_system(1) 1 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154) TGCTTCTCTTGAAATCAGGTT 0.353 7 37 --- --- --- --- PASS USP34 9736 broad.mit.edu 37 2 61546343 61546343 + Missense_Mutation SNP C A A TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr2:61546343C>A uc002sbe.2 - 22 3155 c.3133G>T c.(3133-3135)GGT>TGT p.G1045C NM_014709 NP_055524 Q70CQ2 UBP34_HUMAN ubiquitin specific protease 34 1045 positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity ovary(8)|breast(5)|skin(3)|lung(2)|prostate(1) 19 Epithelial(17;0.229) GTTTCCATACCCATAGCATGT 0.333 15 39 --- --- --- --- PASS DCTN1 1639 broad.mit.edu 37 2 74593124 74593124 + Missense_Mutation SNP C T T TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr2:74593124C>T uc002skx.2 - 24 3093 c.2782G>A c.(2782-2784)GCT>ACT p.A928T SLC4A5_uc002skl.2_5'Flank|DCTN1_uc002skt.1_5'Flank|DCTN1_uc002skv.2_Missense_Mutation_p.A794T|DCTN1_uc002sku.2_Missense_Mutation_p.A794T|DCTN1_uc002skw.1_Missense_Mutation_p.A904T|DCTN1_uc010ffd.2_Missense_Mutation_p.A908T|DCTN1_uc002sky.2_Missense_Mutation_p.A891T NM_004082 NP_004073 Q14203 DCTN1_HUMAN dynactin 1 isoform 1 928 cell death|G2/M transition of mitotic cell cycle|mitosis|nervous system development centrosome|cytosol|kinetochore|microtubule|spindle pole motor activity|protein binding ovary(3)|skin(2) 5 AGGGCAGCAGCCCGCAGTTCA 0.512 21 25 --- --- --- --- PASS REG3A 5068 broad.mit.edu 37 2 79384706 79384706 + Missense_Mutation SNP C T T TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr2:79384706C>T uc002sod.1 - 4 707 c.452G>A c.(451-453)AGA>AAA p.R151K REG3A_uc002soe.1_Missense_Mutation_p.R151K|REG3A_uc002sof.1_Missense_Mutation_p.R151K NM_138938 NP_620355 Q06141 REG3A_HUMAN pancreatitis-associated protein precursor 151 C-type lectin. acute-phase response|cell proliferation|heterophilic cell-cell adhesion|multicellular organismal development cytoplasm|extracellular space|soluble fraction sugar binding skin(1) 1 ACCTGTGCTTCTCGACAGGCT 0.517 7 84 --- --- --- --- PASS CTNNA2 1496 broad.mit.edu 37 2 80096942 80096942 + Missense_Mutation SNP G T T TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr2:80096942G>T uc010ysh.1 + 4 471 c.466G>T c.(466-468)GTG>TTG p.V156L CTNNA2_uc010yse.1_Missense_Mutation_p.V156L|CTNNA2_uc010ysf.1_Missense_Mutation_p.V156L|CTNNA2_uc010ysg.1_Missense_Mutation_p.V156L NM_004389 NP_004380 P26232 CTNA2_HUMAN catenin, alpha 2 isoform 1 156 axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity actin cytoskeleton|axon|cytosol cadherin binding|structural constituent of cytoskeleton pancreas(4)|lung(3)|breast(1)|skin(1) 9 ACCACTGCAGGTGGAAGAGGC 0.353 18 52 --- --- --- --- PASS LRRTM1 347730 broad.mit.edu 37 2 80530054 80530054 + Silent SNP G C C TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr2:80530054G>C uc002sok.1 - 2 1161 c.891C>G c.(889-891)CCC>CCG p.P297P CTNNA2_uc010yse.1_Intron|CTNNA2_uc010ysf.1_Intron|CTNNA2_uc010ysg.1_Intron|CTNNA2_uc010ysh.1_Intron|CTNNA2_uc010ysi.1_5'Flank|LRRTM1_uc002soj.3_RNA NM_178839 NP_849161 Q86UE6 LRRT1_HUMAN leucine rich repeat transmembrane neuronal 1 297 LRR 9.|Lumenal (Potential). axon|endoplasmic reticulum membrane|growth cone|integral to membrane ovary(3)|upper_aerodigestive_tract(1)|skin(1) 5 TGAGGATCCGGGGCTCGATGT 0.622 HNSCC(69;0.2) 5 26 --- --- --- --- PASS PTCD3 55037 broad.mit.edu 37 2 86359468 86359468 + Missense_Mutation SNP G A A TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr2:86359468G>A uc002sqw.2 + 17 1360 c.1294G>A c.(1294-1296)GCC>ACC p.A432T PTCD3_uc002sqx.1_Missense_Mutation_p.A22T NM_017952 NP_060422 Q96EY7 PTCD3_HUMAN pentatricopeptide repeat domain 3 precursor 432 PPR 7. mitochondrion protein binding ovary(1) 1 TCTAGAACTTGCCTACCAAGT 0.378 27 100 --- --- --- --- PASS Unknown 0 broad.mit.edu 37 2 89416871 89416871 + RNA SNP A C C TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr2:89416871A>C uc010ytr.1 - 42 c.4731T>G uc002stl.2_Intron Parts of antibodies, mostly variable regions. TAAGTTGCAAAATCTTCAGGC 0.507 28 73 --- --- --- --- PASS Unknown 0 broad.mit.edu 37 2 90078209 90078209 + RNA SNP G C C TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr2:90078209G>C uc010fhm.2 + 14 c.1599G>C Parts of antibodies, mostly variable regions. TCCCAGACAGGTTCAGTGGCA 0.547 18 42 --- --- --- --- PASS SLC5A7 60482 broad.mit.edu 37 2 108608572 108608572 + Silent SNP C T T TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr2:108608572C>T uc002tdv.2 + 3 465 c.189C>T c.(187-189)GTC>GTT p.V63V SLC5A7_uc010ywm.1_5'UTR|SLC5A7_uc010fjj.2_Silent_p.V63V|SLC5A7_uc010ywn.1_5'UTR NM_021815 NP_068587 Q9GZV3 SC5A7_HUMAN solute carrier family 5 (choline transporter), 63 Helical; (Potential). acetylcholine biosynthetic process|neurotransmitter secretion integral to membrane|plasma membrane choline:sodium symporter activity ovary(2)|central_nervous_system(1)|skin(1) 4 Choline(DB00122) CTACCTGGGTCGGAGGAGGGT 0.368 20 38 --- --- --- --- PASS GLI2 2736 broad.mit.edu 37 2 121708906 121708906 + Silent SNP C T T TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr2:121708906C>T uc010flp.2 + 3 372 c.342C>T c.(340-342)CCC>CCT p.P114P GLI2_uc010yyu.1_Silent_p.P114P|GLI2_uc002tmq.1_Intron|GLI2_uc002tmr.1_Intron|GLI2_uc002tmt.3_Intron|GLI2_uc002tmu.3_Intron|GLI2_uc002tmv.1_Intron|GLI2_uc010flo.1_5'UTR|GLI2_uc002tmw.1_Silent_p.P114P NM_005270 NP_005261 P10070 GLI2_HUMAN GLI-Kruppel family member GLI2 114 axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis nucleus|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(8)|lung(2)|breast(1)|central_nervous_system(1)|pancreas(1) 13 Renal(3;0.0496) Prostate(154;0.0623) GGGAGTCCCCCTTCAACGCCC 0.657 12 32 --- --- --- --- PASS LRP1B 53353 broad.mit.edu 37 2 141245278 141245278 + Missense_Mutation SNP C A A TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr2:141245278C>A uc002tvj.1 - 58 10123 c.9151G>T c.(9151-9153)GAT>TAT p.D3051Y NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 3051 Extracellular (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) TCTCTGTAATCAAAGTCTATA 0.299 TSP Lung(27;0.18) 10 27 --- --- --- --- PASS LRP1B 53353 broad.mit.edu 37 2 141260667 141260667 + Silent SNP G T T TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr2:141260667G>T uc002tvj.1 - 54 9499 c.8527C>A c.(8527-8529)CGA>AGA p.R2843R NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 2843 Extracellular (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) CCACACTGTCGATATCCTAGA 0.398 TSP Lung(27;0.18) 9 27 --- --- --- --- PASS LRP1B 53353 broad.mit.edu 37 2 141806660 141806660 + Missense_Mutation SNP C T T TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr2:141806660C>T uc002tvj.1 - 11 2656 c.1684G>A c.(1684-1686)GAC>AAC p.D562N LRP1B_uc010fnl.1_Intron NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 562 Extracellular (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) GCGTGAAAGTCTAAAGCACGA 0.438 TSP Lung(27;0.18) 14 89 --- --- --- --- PASS ZEB2 9839 broad.mit.edu 37 2 145157345 145157345 + Missense_Mutation SNP G T T TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr2:145157345G>T uc002tvu.2 - 8 1889 c.1409C>A c.(1408-1410)ACT>AAT p.T470N ZEB2_uc002tvv.2_Missense_Mutation_p.T464N|ZEB2_uc010zbm.1_Missense_Mutation_p.T441N|ZEB2_uc010fnp.2_Intron|ZEB2_uc010fnq.1_Missense_Mutation_p.T499N NM_014795 NP_055610 O60315 ZEB2_HUMAN zinc finger homeobox 1b 470 SMAD-MH2 binding domain (By similarity). cytoplasm|nucleolus phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding ovary(5)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1) 9 BRCA - Breast invasive adenocarcinoma(221;0.112) CCTGGAAACAGTATTGTCCAC 0.418 9 53 --- --- --- --- PASS MBD5 55777 broad.mit.edu 37 2 149227994 149227994 + Missense_Mutation SNP A T T TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr2:149227994A>T uc002twm.3 + 9 3470 c.2482A>T c.(2482-2484)ATT>TTT p.I828F MBD5_uc010zbs.1_RNA|MBD5_uc010fns.2_Missense_Mutation_p.I828F|MBD5_uc002twn.1_Missense_Mutation_p.I269F NM_018328 NP_060798 Q9P267 MBD5_HUMAN methyl-CpG binding domain protein 5 828 chromosome|nucleus chromatin binding|DNA binding skin(3)|ovary(2) 5 BRCA - Breast invasive adenocarcinoma(221;0.0569) ACCAAACAGCATTGTTAGCAG 0.378 5 30 --- --- --- --- PASS NEB 4703 broad.mit.edu 37 2 152385743 152385743 + Missense_Mutation SNP G T T TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr2:152385743G>T uc010fnx.2 - 118 16804 c.16613C>A c.(16612-16614)GCC>GAC p.A5538D NEB_uc002txr.2_Missense_Mutation_p.A1961D|NEB_uc002txt.3_Missense_Mutation_p.A43D NM_004543 NP_004534 P20929 NEBU_HUMAN nebulin isoform 3 5538 Nebulin 151. muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1) 20 BRCA - Breast invasive adenocarcinoma(221;0.219) GACTTTGTAGGCGTCCTTGGC 0.438 10 49 --- --- --- --- PASS NEB 4703 broad.mit.edu 37 2 152402505 152402505 + Missense_Mutation SNP T A A TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr2:152402505T>A uc010fnx.2 - 107 15562 c.15371A>T c.(15370-15372)TAC>TTC p.Y5124F NEB_uc002txr.2_Missense_Mutation_p.Y1547F NM_004543 NP_004534 P20929 NEBU_HUMAN nebulin isoform 3 5124 muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1) 20 BRCA - Breast invasive adenocarcinoma(221;0.219) AGTGTATAGGTAATTAGACTT 0.338 3 4 --- --- --- --- PASS SCN1A 6323 broad.mit.edu 37 2 166848156 166848156 + Missense_Mutation SNP C T T TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr2:166848156C>T uc010zcz.1 - 26 5614 c.5596G>A c.(5596-5598)GGA>AGA p.G1866R NM_006920 NP_008851 P35498 SCN1A_HUMAN sodium channel, voltage-gated, type I, alpha 1877 voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(6)|skin(6)|large_intestine(1) 13 Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909) CCACTCTCTCCTAGAACCCGC 0.458 19 46 --- --- --- --- PASS XIRP2 129446 broad.mit.edu 37 2 167760089 167760089 + Missense_Mutation SNP T A A TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr2:167760089T>A uc002udx.2 + 1 115 c.97T>A c.(97-99)TGT>AGT p.C33S XIRP2_uc010fpn.2_Missense_Mutation_p.C33S|XIRP2_uc010fpo.2_Missense_Mutation_p.C33S|XIRP2_uc010fpp.2_Missense_Mutation_p.C33S NM_152381 NP_689594 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 isoform 1 Error:Variant_position_missing_in_A4UGR9_after_alignment actin cytoskeleton organization cell junction actin binding skin(7)|ovary(6)|pancreas(1) 14 GGACAGCCATTGTACAATTTT 0.488 4 27 --- --- --- --- PASS LASS6 253782 broad.mit.edu 37 2 169626093 169626093 + Missense_Mutation SNP C A A TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr2:169626093C>A uc002ueb.1 + 10 1200 c.1076C>A c.(1075-1077)CCC>CAC p.P359H LASS6_uc002uec.1_Missense_Mutation_p.P367H NM_203463 NP_982288 Q6ZMG9 CERS6_HUMAN longevity assurance homolog 6 359 Cytoplasmic (Potential). endoplasmic reticulum membrane|integral to membrane|nuclear membrane sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity skin(1) 1 GGAAAGAATCCCCACACTGCG 0.493 6 45 --- --- --- --- PASS LRP2 4036 broad.mit.edu 37 2 170175293 170175293 + Missense_Mutation SNP A T T TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr2:170175293A>T uc002ues.2 - 3 502 c.289T>A c.(289-291)TCA>ACA p.S97T LRP2_uc010zdf.1_Missense_Mutation_p.S97T NM_004525 NP_004516 P98164 LRP2_HUMAN low density lipoprotein-related protein 2 97 LDL-receptor class A 2.|Extracellular (Potential). hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome calcium ion binding|receptor activity|SH3 domain binding ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1) 29 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) CGTTCATCTGAGCCATCATCA 0.478 9 61 --- --- --- --- PASS NFE2L2 4780 broad.mit.edu 37 2 178098804 178098804 + Missense_Mutation SNP C T T TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr2:178098804C>T uc002ulh.3 - 2 796 c.241G>A c.(241-243)GGT>AGT p.G81S NFE2L2_uc002ulg.3_Missense_Mutation_p.G65S|NFE2L2_uc010zfa.1_Missense_Mutation_p.G65S|NFE2L2_uc002uli.3_Missense_Mutation_p.G65S|NFE2L2_uc010fra.2_Missense_Mutation_p.G65S|NFE2L2_uc010frb.2_Missense_Mutation_p.G65S NM_006164 NP_006155 Q16236 NF2L2_HUMAN nuclear factor erythroid 2-like 2 isoform 1 81 transcription from RNA polymerase II promoter centrosome|cytosol|nucleus|plasma membrane protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1) 1 Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935) AGAAATTCACCTGTCTCTTCA 0.438 Mis NSCLC|HNSCC HNSCC(56;0.16) 12 29 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179426284 179426284 + Missense_Mutation SNP T C C TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr2:179426284T>C uc010zfg.1 - 275 77095 c.76871A>G c.(76870-76872)GAG>GGG p.E25624G uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.E19319G|TTN_uc010zfi.1_Missense_Mutation_p.E19252G|TTN_uc010zfj.1_Missense_Mutation_p.E19127G NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 26551 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) TTCTTTATACTCAAGATGATA 0.403 7 25 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179472319 179472319 + Missense_Mutation SNP C T T rs72646808 by1000genomes TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr2:179472319C>T uc010zfg.1 - 226 45616 c.45392G>A c.(45391-45393)CGC>CAC p.R15131H uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.R8826H|TTN_uc010zfi.1_Missense_Mutation_p.R8759H|TTN_uc010zfj.1_Missense_Mutation_p.R8634H NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 16058 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) AGGTACAGGGCGACCAGTCAC 0.448 24 161 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179553856 179553856 + Silent SNP A T T TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr2:179553856A>T uc010zfg.1 - 122 28511 c.28287T>A c.(28285-28287)GCT>GCA p.A9429A TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Silent_p.A6090A|TTN_uc010fre.1_Silent_p.A540A NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 10356 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) TCTTAGGCAGAGCTGGCACTT 0.458 8 51 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179581848 179581848 + Missense_Mutation SNP G T T TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr2:179581848G>T uc010zfg.1 - 85 22105 c.21881C>A c.(21880-21882)TCT>TAT p.S7294Y TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.S3955Y NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 8221 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) AGCAGAACAAGAGTCTTTTCC 0.448 7 26 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179590510 179590510 + Missense_Mutation SNP T C C TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr2:179590510T>C uc010zfg.1 - 67 17031 c.16807A>G c.(16807-16809)ACT>GCT p.T5603A TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.T2264A NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 6530 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) AATTTTACAGTACAAACACAA 0.378 7 73 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179598616 179598616 + Missense_Mutation SNP G T T TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr2:179598616G>T uc010zfg.1 - 50 11992 c.11768C>A c.(11767-11769)CCT>CAT p.P3923H TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.P584H NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 4850 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) AAAGGTTGGAGGTTCTAGTTA 0.368 12 32 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179616020 179616020 + Missense_Mutation SNP G T T TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr2:179616020G>T uc002unb.2 - 46 11331 c.11107C>A c.(11107-11109)CAA>AAA p.Q3703K TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron NM_133379 NP_596870 Q8WZ42 TITIN_HUMAN titin isoform novex-3 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment 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) CTTAAACGTTGCAACTTCACT 0.343 11 51 --- --- --- --- PASS CWC22 57703 broad.mit.edu 37 2 180815259 180815259 + Missense_Mutation SNP C A A TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr2:180815259C>A uc010frh.1 - 19 2420 c.2120G>T c.(2119-2121)AGT>ATT p.S707I CWC22_uc002uno.2_Missense_Mutation_p.S229I|CWC22_uc002unp.2_Missense_Mutation_p.S707I NM_020943 NP_065994 Q9HCG8 CWC22_HUMAN CWC22 spliceosome-associated protein homolog 707 Ser-rich. catalytic step 2 spliceosome protein binding|RNA binding 0 GCTATGACTACTGATGGATGA 0.408 5 14 --- --- --- --- PASS CWC22 57703 broad.mit.edu 37 2 180815448 180815448 + Missense_Mutation SNP C A A TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr2:180815448C>A uc010frh.1 - 19 2231 c.1931G>T c.(1930-1932)CGG>CTG p.R644L CWC22_uc002uno.2_Missense_Mutation_p.R166L|CWC22_uc002unp.2_Missense_Mutation_p.R644L NM_020943 NP_065994 Q9HCG8 CWC22_HUMAN CWC22 spliceosome-associated protein homolog 644 catalytic step 2 spliceosome protein binding|RNA binding 0 GAGATGCTCCCGCAGTTCATC 0.358 27 45 --- --- --- --- PASS SSFA2 6744 broad.mit.edu 37 2 182787078 182787078 + Missense_Mutation SNP C T T TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr2:182787078C>T uc002uoi.2 + 16 3936 c.3614C>T c.(3613-3615)CCA>CTA p.P1205L SSFA2_uc002uoh.2_Missense_Mutation_p.P1205L|SSFA2_uc002uoj.2_Missense_Mutation_p.P1183L|SSFA2_uc002uok.2_RNA|SSFA2_uc010zfo.1_Missense_Mutation_p.P1030L|SSFA2_uc002uol.2_Missense_Mutation_p.P1052L|SSFA2_uc002uom.2_Missense_Mutation_p.P669L NM_001130445 NP_001123917 P28290 SSFA2_HUMAN sperm specific antigen 2 isoform 1 1205 cytoplasm|plasma membrane actin binding breast(1)|central_nervous_system(1) 2 OV - Ovarian serous cystadenocarcinoma(117;0.0856) CCATCAATGCCAGCTGCTGAG 0.443 6 32 --- --- --- --- PASS FRZB 2487 broad.mit.edu 37 2 183699610 183699610 + Missense_Mutation SNP C A A TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr2:183699610C>A uc002upa.1 - 6 1162 c.944G>T c.(943-945)GGC>GTC p.G315V NM_001463 NP_001454 Q92765 SFRP3_HUMAN frizzled-related protein precursor 315 Ser-rich. brain development|cochlea morphogenesis|gonad development|mammary gland involution|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cartilage development|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of hepatocyte differentiation|positive regulation of apoptosis|positive regulation of fat cell differentiation|skeletal system development|vasculature development|Wnt receptor signaling pathway cytoplasm|extracellular space|membrane PDZ domain binding|Wnt receptor activity|Wnt-protein binding ovary(2)|lung(1)|central_nervous_system(1) 4 OV - Ovarian serous cystadenocarcinoma(117;0.109)|Epithelial(96;0.231) CGAGTTCCTGCCAGACTTCTG 0.433 17 46 --- --- --- --- PASS SLC39A10 57181 broad.mit.edu 37 2 196599666 196599666 + Silent SNP G T T TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr2:196599666G>T uc002utg.3 + 10 2611 c.2397G>T c.(2395-2397)GGG>GGT p.G799G SLC39A10_uc002uth.3_Silent_p.G799G|SLC39A10_uc010zgp.1_Silent_p.G349G NM_001127257 NP_001120729 Q9ULF5 S39AA_HUMAN solute carrier family 39 (zinc transporter), 799 zinc ion transport integral to membrane metal ion transmembrane transporter activity pancreas(1)|skin(1) 2 OV - Ovarian serous cystadenocarcinoma(117;0.221) GTCCTGTGGGGCAATTCATCC 0.363 31 65 --- --- --- --- PASS DNAH7 56171 broad.mit.edu 37 2 196619071 196619071 + Silent SNP A T T TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr2:196619071A>T uc002utj.3 - 63 11855 c.11754T>A c.(11752-11754)CCT>CCA p.P3918P DNAH7_uc002uti.3_Silent_p.P401P NM_018897 NP_061720 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 3918 ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity skin(10)|ovary(2) 12 CATCCTCAGGAGGATGCTTGT 0.438 16 45 --- --- --- --- PASS HECW2 57520 broad.mit.edu 37 2 197194300 197194300 + Silent SNP T A A TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr2:197194300T>A uc002utm.1 - 5 753 c.570A>T c.(568-570)TCA>TCT p.S190S HECW2_uc002utl.1_5'UTR NM_020760 NP_065811 Q9P2P5 HECW2_HUMAN HECT, C2 and WW domain containing E3 ubiquitin 190 C2. protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm ubiquitin-protein ligase activity skin(5)|ovary(5)|lung(4)|pancreas(2)|central_nervous_system(1)|kidney(1) 18 CATTCTTACCTGACAATGTAA 0.398 15 59 --- --- --- --- PASS PLCL1 5334 broad.mit.edu 37 2 198949214 198949214 + Nonsense_Mutation SNP A T T TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr2:198949214A>T uc010fsp.2 + 2 1264 c.973A>T c.(973-975)AAA>TAA p.K325* PLCL1_uc002uuv.3_Nonsense_Mutation_p.K246* NM_001114661 NP_001108133 Q15111 PLCL1_HUMAN RecName: Full=Inactive phospholipase C-like protein 1; Short=PLC-L1; AltName: Full=Phospholipase C-deleted in lung carcinoma; AltName: Full=Phospholipase C-related but catalytically inactive protein; Short=PRIP; 325 intracellular signal transduction|lipid metabolic process cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity ovary(1)|skin(1) 2 Quinacrine(DB01103) ACAGATATCTAAAAACAAAGA 0.398 15 46 --- --- --- --- PASS C2orf69 205327 broad.mit.edu 37 2 200789838 200789838 + Missense_Mutation SNP G T T TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr2:200789838G>T uc010zhb.1 + 2 570 c.387G>T c.(385-387)TGG>TGT p.W129C NM_153689 NP_710156 Q8N8R5 CB069_HUMAN hypothetical protein LOC205327 precursor 129 extracellular region central_nervous_system(1) 1 GGGAAAACTGGAGTCTAGAAA 0.343 4 26 --- --- --- --- PASS ZDBF2 57683 broad.mit.edu 37 2 207176006 207176006 + Nonsense_Mutation SNP A T T TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr2:207176006A>T uc002vbp.2 + 5 7004 c.6754A>T c.(6754-6756)AAA>TAA p.K2252* NM_020923 NP_065974 Q9HCK1 ZDBF2_HUMAN zinc finger, DBF-type containing 2 2252 Poly-Lys. nucleic acid binding|zinc ion binding ovary(3) 3 TCTGAAGAAGAAAAAATCTGT 0.413 8 12 --- --- --- --- PASS PIKFYVE 200576 broad.mit.edu 37 2 209163433 209163433 + Missense_Mutation SNP C T T TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr2:209163433C>T uc002vcz.2 + 8 1138 c.980C>T c.(979-981)TCT>TTT p.S327F PIKFYVE_uc010fun.1_Missense_Mutation_p.S8F|PIKFYVE_uc002vcy.1_Missense_Mutation_p.S327F|PIKFYVE_uc002vcv.2_Missense_Mutation_p.S230F|PIKFYVE_uc002vcw.2_Missense_Mutation_p.S327F|PIKFYVE_uc002vcx.2_Missense_Mutation_p.S241F NM_015040 NP_055855 Q9Y2I7 FYV1_HUMAN phosphatidylinositol-3-phosphate 5-kinase type 327 cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi early endosome membrane|membrane raft 1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding ovary(5)|kidney(2)|pancreas(1)|central_nervous_system(1)|skin(1) 10 TATGAGACATCTGTCAGTCCC 0.438 3 17 --- --- --- --- PASS SPAG16 79582 broad.mit.edu 37 2 214181983 214181983 + Missense_Mutation SNP G C C TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr2:214181983G>C uc002veq.2 + 5 531 c.439G>C c.(439-441)GTT>CTT p.V147L SPAG16_uc010fuz.1_Intron|SPAG16_uc002ver.2_Missense_Mutation_p.V93L|SPAG16_uc010zjk.1_Missense_Mutation_p.V53L|SPAG16_uc002veo.2_Missense_Mutation_p.V147L|SPAG16_uc002vep.1_Intron|SPAG16_uc002ves.1_Missense_Mutation_p.V116L NM_024532 NP_078808 Q8N0X2 SPG16_HUMAN sperm associated antigen 16 isoform 1 147 cilium assembly cilium axoneme|flagellar axoneme ovary(1)|skin(1) 2 Renal(323;0.00461) UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599) ACTTAGAACTGTTGGGAATGT 0.333 12 26 --- --- --- --- PASS ALPP 250 broad.mit.edu 37 2 233245187 233245187 + Missense_Mutation SNP G T T TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr2:233245187G>T uc002vsq.2 + 7 1015 c.850G>T c.(850-852)GTG>TTG p.V284L ALPP_uc002vsr.2_5'Flank NM_001632 NP_001623 P05187 PPB1_HUMAN placental alkaline phosphatase preproprotein 284 anchored to membrane|cell surface|integral to membrane|plasma membrane alkaline phosphatase activity|metal ion binding ovary(1) 1 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196) GGACCCGTCTGTGACCCATCT 0.637 5 80 --- --- --- --- PASS CNTN6 27255 broad.mit.edu 37 3 1443184 1443184 + Missense_Mutation SNP G T T TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr3:1443184G>T uc003boz.2 + 21 3039 c.2772G>T c.(2770-2772)GAG>GAT p.E924D CNTN6_uc011asj.1_Missense_Mutation_p.E852D|CNTN6_uc003bpa.2_Missense_Mutation_p.E924D NM_014461 NP_055276 Q9UQ52 CNTN6_HUMAN contactin 6 precursor 924 Fibronectin type-III 4. axon guidance|cell adhesion|central nervous system development|Notch signaling pathway anchored to membrane|plasma membrane skin(3)|lung(2)|breast(2)|pancreas(1) 8 all_cancers(2;0.000164)|all_epithelial(2;0.107) Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139) TGAACTGGGAGCATGTAAAAA 0.358 7 18 --- --- --- --- PASS THUMPD3 25917 broad.mit.edu 37 3 9426217 9426217 + Nonsense_Mutation SNP G T T TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr3:9426217G>T uc003bro.3 + 10 1517 c.1369G>T c.(1369-1371)GGA>TGA p.G457* LOC440944_uc003brm.2_Intron|THUMPD3_uc003brn.3_Nonsense_Mutation_p.G457* NM_001114092 NP_001107564 Q9BV44 THUM3_HUMAN THUMP domain containing 3 457 methyltransferase activity|protein binding|RNA binding ovary(1) 1 Medulloblastoma(99;0.227) OV - Ovarian serous cystadenocarcinoma(96;0.101) GGCGTTATCTGGAATGCGACA 0.428 6 147 --- --- --- --- PASS COLQ 8292 broad.mit.edu 37 3 15512050 15512050 + Missense_Mutation SNP C A A TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr3:15512050C>A uc003bzx.2 - 11 836 c.710G>T c.(709-711)GGC>GTC p.G237V COLQ_uc003bzv.2_Missense_Mutation_p.G227V|COLQ_uc003bzz.2_Missense_Mutation_p.G228V|COLQ_uc010heo.2_Missense_Mutation_p.G203V|COLQ_uc003cac.1_RNA|COLQ_uc003cae.1_Missense_Mutation_p.G96V|COLQ_uc003cad.1_RNA NM_005677 NP_005668 Q9Y215 COLQ_HUMAN acetylcholinesterase collagen-like tail subunit 237 Heparan sulfate proteoglycan binding (Potential).|Collagen-like 1. acetylcholine catabolic process in synaptic cleft|asymmetric protein localization basal lamina|cell junction|collagen|extracellular space|synaptic cleft 0 TACCTGCTTGCCTCGTTTTCC 0.547 23 28 --- --- --- --- PASS SCN11A 11280 broad.mit.edu 37 3 38938418 38938418 + Nonsense_Mutation SNP C T T TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr3:38938418C>T uc011ays.1 - 14 2520 c.2321G>A c.(2320-2322)TGG>TAG p.W774* SCN11A_uc010hhn.1_5'Flank NM_014139 NP_054858 Q9UI33 SCNBA_HUMAN sodium channel, voltage-gated, type XI, alpha 774 II. response to drug voltage-gated sodium channel complex voltage-gated sodium channel activity skin(6)|ovary(1)|haematopoietic_and_lymphoid_tissue(1)|pancreas(1) 9 Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226) Cocaine(DB00907) CATACATTCCCACATATTTTC 0.443 20 21 --- --- --- --- PASS ZBTB47 92999 broad.mit.edu 37 3 42703103 42703103 + Missense_Mutation SNP C T T TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr3:42703103C>T uc003clu.1 + 2 574 c.472C>T c.(472-474)CAC>TAC p.H158Y NM_145166 NP_660149 Q9UFB7 ZBT47_HUMAN zinc finger protein 651 158 C2H2-type 4. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 KIRC - Kidney renal clear cell carcinoma(284;0.216) CACCATGGCCCACGTGCGTAA 0.527 10 27 --- --- --- --- PASS CCR1 1230 broad.mit.edu 37 3 46244987 46244987 + Missense_Mutation SNP C A A TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr3:46244987C>A uc003cph.1 - 2 889 c.818G>T c.(817-819)TGT>TTT p.C273F CCR3_uc003cpg.1_Intron NM_001295 NP_001286 P32246 CCR1_HUMAN chemokine (C-C motif) receptor 1 273 Extracellular (Potential). cell adhesion|cell-cell signaling|cytokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cyclic nucleotide second messenger|immune response|inflammatory response integral to plasma membrane C-C chemokine receptor activity skin(2)|pancreas(1) 3 BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203) GCTCTGCTCACACTCATGGGT 0.458 6 28 --- --- --- --- PASS ADAMTS9 56999 broad.mit.edu 37 3 64601826 64601826 + Missense_Mutation SNP C A A TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr3:64601826C>A uc003dmg.2 - 20 2866 c.2834G>T c.(2833-2835)AGT>ATT p.S945I ADAMTS9_uc011bfo.1_Missense_Mutation_p.S917I|ADAMTS9_uc003dmh.1_Missense_Mutation_p.S774I|ADAMTS9_uc003dmk.1_Missense_Mutation_p.S945I|ADAMTS9_uc011bfp.1_5'UTR NM_182920 NP_891550 Q9P2N4 ATS9_HUMAN ADAM metallopeptidase with thrombospondin type 1 945 TSP type-1 3. glycoprotein catabolic process|multicellular organismal development|proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(2)|urinary_tract(1)|skin(1) 4 Lung NSC(201;0.00682) BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221) ACTACATTCACTCCTGCTGGC 0.428 26 95 --- --- --- --- PASS EIF4E3 317649 broad.mit.edu 37 3 71739215 71739215 + Missense_Mutation SNP C G G TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr3:71739215C>G uc003dov.3 - 6 582 c.574G>C c.(574-576)GAA>CAA p.E192Q EIF4E3_uc011bgc.1_Missense_Mutation_p.E86Q|EIF4E3_uc003dox.2_Missense_Mutation_p.E86Q|EIF4E3_uc011bgd.1_Missense_Mutation_p.E86Q|EIF4E3_uc010hoc.2_Missense_Mutation_p.E86Q NM_001134651 NP_001128123 Q8N5X7 IF4E3_HUMAN eukaryotic translation initiation factor 4E 192 regulation of translation cytoplasm|mRNA cap binding complex translation initiation factor activity 0 Prostate(10;0.0166) BRCA - Breast invasive adenocarcinoma(55;2.56e-05)|Epithelial(33;2.9e-05)|Lung(16;9.28e-05)|LUSC - Lung squamous cell carcinoma(21;0.00227) TAGATCTTTTCTAAAACAGTC 0.383 9 30 --- --- --- --- PASS GBE1 2632 broad.mit.edu 37 3 81719992 81719992 + Missense_Mutation SNP T G G TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr3:81719992T>G uc003dqg.2 - 4 709 c.426A>C c.(424-426)TTA>TTC p.L142F GBE1_uc011bgm.1_Missense_Mutation_p.L101F NM_000158 NP_000149 Q04446 GLGB_HUMAN glucan (1,4-alpha-), branching enzyme 1 142 glucose metabolic process|glycogen biosynthetic process cytosol 1,4-alpha-glucan branching enzyme activity|cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds ovary(3) 3 Lung NSC(201;0.0117) UCEC - Uterine corpus endometrioid carcinoma (27;0.0654)|Epithelial(33;0.00305)|LUSC - Lung squamous cell carcinoma(29;0.00646)|BRCA - Breast invasive adenocarcinoma(55;0.00813)|Lung(72;0.0129)|KIRC - Kidney renal clear cell carcinoma(39;0.212)|Kidney(39;0.247) AAAGTACCTTTAATTTGGATC 0.343 Glycogen_Storage_Disease_type_IV 3 11 --- --- --- --- PASS EPHA6 285220 broad.mit.edu 37 3 96706678 96706678 + Missense_Mutation SNP G T T TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr3:96706678G>T uc010how.1 + 3 998 c.955G>T c.(955-957)GAT>TAT p.D319Y EPHA6_uc003drp.1_Missense_Mutation_p.D319Y NM_001080448 NP_001073917 Q9UF33 EPHA6_HUMAN EPH receptor A6 isoform a 224 Extracellular (Potential). integral to plasma membrane ATP binding|ephrin receptor activity stomach(5)|lung(4)|central_nervous_system(3)|breast(1)|skin(1)|ovary(1)|kidney(1) 16 TCCAAGGGTTGATTCCTCCTC 0.488 22 192 --- --- --- --- PASS GPR15 2838 broad.mit.edu 37 3 98250924 98250924 + Missense_Mutation SNP C A A TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr3:98250924C>A uc011bgy.1 + 1 47 c.47C>A c.(46-48)ACG>AAG p.T16K NM_005290 NP_005281 P49685 GPR15_HUMAN G protein-coupled receptor 15 16 Extracellular (Potential). integral to plasma membrane purinergic nucleotide receptor activity, G-protein coupled ovary(1) 1 Lung NSC(201;7.93e-06)|all_neural(597;0.00172)|Hepatocellular(537;0.00825)|Myeloproliferative disorder(1037;0.0255) Lung(72;0.246) TACTATGCTACGAGCCCAAAC 0.438 6 34 --- --- --- --- PASS DPPA2 151871 broad.mit.edu 37 3 109028117 109028117 + Missense_Mutation SNP G A A TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr3:109028117G>A uc003dxo.2 - 4 489 c.242C>T c.(241-243)CCA>CTA p.P81L NM_138815 NP_620170 Q7Z7J5 DPPA2_HUMAN developmental pluripotency associated 2 81 nucleus nucleic acid binding ovary(2)|upper_aerodigestive_tract(1) 3 GGGAAGGGCTGGTATTTTGCA 0.418 18 122 --- --- --- --- PASS CD96 10225 broad.mit.edu 37 3 111357003 111357003 + Missense_Mutation SNP G T T TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr3:111357003G>T uc003dxw.2 + 13 1683 c.1513G>T c.(1513-1515)GTC>TTC p.V505F CD96_uc003dxx.2_Missense_Mutation_p.V489F|CD96_uc010hpy.1_Missense_Mutation_p.V488F NM_198196 NP_937839 P40200 TACT_HUMAN CD96 antigen isoform 1 precursor 505 Extracellular (Potential). cell adhesion|immune response|regulation of immune response integral to plasma membrane skin(2)|central_nervous_system(1) 3 AACTAATCACGTCCATATCAC 0.303 Opitz_Trigonocephaly_syndrome 19 74 --- --- --- --- PASS WDR52 55779 broad.mit.edu 37 3 113135435 113135435 + Missense_Mutation SNP C A A TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr3:113135435C>A uc003eae.1 - 6 656 c.610G>T c.(610-612)GGG>TGG p.G204W NM_018338 NP_060808 Q96MT7 WDR52_HUMAN WD repeat domain 52 isoform 2 204 central_nervous_system(1) 1 GGAAAACTCCCTTTTTCAGCT 0.303 13 36 --- --- --- --- PASS GAP43 2596 broad.mit.edu 37 3 115439702 115439702 + Missense_Mutation SNP A C C TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr3:115439702A>C uc003ebq.2 + 3 1076 c.690A>C c.(688-690)GAA>GAC p.E230D GAP43_uc003ebr.2_Missense_Mutation_p.E266D NM_002045 NP_002036 P17677 NEUM_HUMAN growth associated protein 43 isoform 2 230 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell differentiation|nervous system development|regulation of filopodium assembly|regulation of growth|response to wounding cell junction|filopodium membrane|growth cone membrane|synapse calmodulin binding ovary(1) 1 GBM - Glioblastoma multiforme(114;0.164) AAGAAGAGGAACCTGAGGCTG 0.512 7 252 --- --- --- --- PASS C3orf15 89876 broad.mit.edu 37 3 119462960 119462960 + Missense_Mutation SNP C G G TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr3:119462960C>G uc003ede.3 + 14 1896 c.1819C>G c.(1819-1821)CGG>GGG p.R607G C3orf15_uc010hqz.2_Missense_Mutation_p.R545G|C3orf15_uc011bjd.1_Missense_Mutation_p.R481G|C3orf15_uc011bje.1_Missense_Mutation_p.R587G NM_033364 NP_203528 Q7Z4T9 AAT1_HUMAN AAT1-alpha 443 mitochondrion protein binding ovary(2)|pancreas(1) 3 GBM - Glioblastoma multiforme(114;0.186) TGAGCGCCAGCGGCGGGTACG 0.582 13 39 --- --- --- --- PASS GPR156 165829 broad.mit.edu 37 3 119887051 119887051 + Missense_Mutation SNP G C C TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr3:119887051G>C uc011bjf.1 - 9 1273 c.1273C>G c.(1273-1275)CCT>GCT p.P425A GPR156_uc011bjg.1_Missense_Mutation_p.P421A NM_153002 NP_694547 Q8NFN8 GP156_HUMAN G protein-coupled receptor 156 425 Cytoplasmic (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity|GABA-B receptor activity ovary(1)|skin(1) 2 GBM - Glioblastoma multiforme(114;0.19) TGACCCGAAGGCCCCTGAGCA 0.627 7 22 --- --- --- --- PASS EAF2 55840 broad.mit.edu 37 3 121554135 121554135 + Missense_Mutation SNP G T T TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr3:121554135G>T uc003een.2 + 1 102 c.3G>T c.(1-3)ATG>ATT p.M1I IQCB1_uc010hre.1_5'Flank|IQCB1_uc003eek.2_5'Flank|IQCB1_uc010hrf.1_5'Flank|EAF2_uc003eem.2_RNA|EAF2_uc003eeo.2_5'UTR NM_018456 NP_060926 Q96CJ1 EAF2_HUMAN ELL associated factor 2 1 apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear speck protein binding 0 GBM - Glioblastoma multiforme(114;0.0972) GAGTAATTATGAATAGCGCAG 0.572 9 60 --- --- --- --- PASS UMPS 7372 broad.mit.edu 37 3 124462860 124462860 + Missense_Mutation SNP G C C TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr3:124462860G>C uc003ehl.3 + 6 1478 c.1372G>C c.(1372-1374)GAT>CAT p.D458H UMPS_uc003ehm.3_RNA|UMPS_uc011bka.1_Missense_Mutation_p.D280H|UMPS_uc011bkb.1_Missense_Mutation_p.D366H|UMPS_uc011bkc.1_Missense_Mutation_p.D280H|UMPS_uc003ehn.3_Missense_Mutation_p.D280H|UMPS_uc011bkd.1_Missense_Mutation_p.D183H NM_000373 NP_000364 P11172 UMPS_HUMAN uridine monophosphate synthase 458 OMPdecase. 'de novo' pyrimidine base biosynthetic process|'de novo' UMP biosynthetic process|pyrimidine nucleoside biosynthetic process cytosol|nucleus orotate phosphoribosyltransferase activity|orotidine-5'-phosphate decarboxylase activity kidney(1) 1 GBM - Glioblastoma multiforme(114;0.146) CTCAGCAGCTGATCGTCTGGA 0.428 18 72 --- --- --- --- PASS SLC12A8 84561 broad.mit.edu 37 3 124826404 124826404 + Missense_Mutation SNP G C C TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr3:124826404G>C uc003ehv.3 - 10 1737 c.1626C>G c.(1624-1626)AGC>AGG p.S542R SLC12A8_uc003ehw.3_Missense_Mutation_p.S571R|SLC12A8_uc003eht.3_Missense_Mutation_p.S343R|SLC12A8_uc003ehu.3_Missense_Mutation_p.S295R|SLC12A8_uc010hry.2_Missense_Mutation_p.S295R NM_024628 NP_078904 A0AV02 S12A8_HUMAN solute carrier family 12, member 8 542 potassium ion transport integral to membrane symporter activity 0 GAGTCCCTTCGCTCTTGGAAG 0.552 18 93 --- --- --- --- PASS IFT122 55764 broad.mit.edu 37 3 129221605 129221605 + Silent SNP G T T TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr3:129221605G>T uc003emm.2 + 20 2633 c.2427G>T c.(2425-2427)CTG>CTT p.L809L IFT122_uc003eml.2_Silent_p.L860L|IFT122_uc003emn.2_Silent_p.L750L|IFT122_uc003emo.2_Silent_p.L698L|IFT122_uc003emp.2_Silent_p.L659L|IFT122_uc010htc.2_Silent_p.L801L|IFT122_uc011bky.1_Silent_p.L600L|IFT122_uc003emq.2_Silent_p.L649L|IFT122_uc003emr.2_Silent_p.L561L|IFT122_uc011bla.1_Silent_p.L582L|IFT122_uc010hte.2_Silent_p.L135L|IFT122_uc003ems.2_Silent_p.L190L|IFT122_uc011bkx.1_Silent_p.L649L|IFT122_uc010htd.1_Silent_p.L288L NM_052989 NP_443715 Q9HBG6 IF122_HUMAN WD repeat domain 10 isoform 2 809 camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure microtubule basal body|photoreceptor connecting cilium ovary(1)|skin(1) 2 AGCCCCTGCTGCTGTGCGCTA 0.552 9 101 --- --- --- --- PASS NEK11 79858 broad.mit.edu 37 3 130852747 130852747 + Silent SNP T C C TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr3:130852747T>C uc003eny.2 + 7 920 c.594T>C c.(592-594)TAT>TAC p.Y198Y NEK11_uc003enx.2_Silent_p.Y198Y|NEK11_uc003eoa.2_Silent_p.Y198Y|NEK11_uc003enz.2_Silent_p.Y16Y|NEK11_uc010htn.2_RNA|NEK11_uc011blk.1_Silent_p.Y50Y|NEK11_uc011bll.1_Silent_p.Y198Y|NEK11_uc003enw.1_Silent_p.Y198Y|NEK11_uc011blm.1_Silent_p.Y198Y|NEK11_uc010hto.1_Silent_p.Y50Y NM_024800 NP_079076 Q8NG66 NEK11_HUMAN NIMA-related kinase 11 isoform 1 198 Protein kinase. cell cycle|intra-S DNA damage checkpoint|intracellular protein kinase cascade nucleolus ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity large_intestine(4)|stomach(1)|central_nervous_system(1) 6 CTCCCCATTATATGAGTCCTG 0.423 55 56 --- --- --- --- PASS TMEM108 66000 broad.mit.edu 37 3 133098855 133098855 + Missense_Mutation SNP C G G TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr3:133098855C>G uc003eph.2 + 4 574 c.300C>G c.(298-300)ATC>ATG p.I100M TMEM108_uc003epi.2_Missense_Mutation_p.I100M|TMEM108_uc003epj.1_Missense_Mutation_p.I100M|TMEM108_uc003epk.2_Intron|TMEM108_uc003epm.2_Missense_Mutation_p.I51M NM_023943 NP_076432 Q6UXF1 TM108_HUMAN transmembrane protein 108 precursor 100 Pro-rich.|Extracellular (Potential). integral to membrane ovary(2)|skin(2) 4 TCTCCACCATCGCTGCGACAG 0.662 5 77 --- --- --- --- PASS EPHB1 2047 broad.mit.edu 37 3 134873074 134873074 + Missense_Mutation SNP C A A TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr3:134873074C>A uc003eqt.2 + 6 1598 c.1378C>A c.(1378-1380)CCC>ACC p.P460T EPHB1_uc003equ.2_Missense_Mutation_p.P21T NM_004441 NP_004432 P54762 EPHB1_HUMAN ephrin receptor EphB1 precursor 460 Fibronectin type-III 2.|Extracellular (Potential). integral to plasma membrane ATP binding|ephrin receptor activity|protein binding lung(11)|ovary(6)|stomach(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|pancreas(1) 30 GCCGGAGCAGCCCAATGGCAT 0.557 19 143 --- --- --- --- PASS PCCB 5096 broad.mit.edu 37 3 136016830 136016830 + Missense_Mutation SNP C G G TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr3:136016830C>G uc003eqy.1 + 8 851 c.800C>G c.(799-801)GCC>GGC p.A267G PCCB_uc003eqz.1_Missense_Mutation_p.A267G|PCCB_uc011bmc.1_Missense_Mutation_p.A287G|PCCB_uc011bmd.1_Missense_Mutation_p.A184G NM_000532 NP_000523 P05166 PCCB_HUMAN propionyl Coenzyme A carboxylase, beta 267 Carboxyltransferase. fatty acid beta-oxidation mitochondrial matrix ATP binding|propionyl-CoA carboxylase activity 0 Biotin(DB00121)|L-Valine(DB00161) GATGTTGATGCCTTGTGTAAT 0.542 23 160 --- --- --- --- PASS STAG1 10274 broad.mit.edu 37 3 136082280 136082280 + Missense_Mutation SNP C A A TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr3:136082280C>A uc003era.1 - 26 3007 c.2715G>T c.(2713-2715)AAG>AAT p.K905N STAG1_uc003erb.1_Missense_Mutation_p.K905N NM_005862 NP_005853 Q8WVM7 STAG1_HUMAN stromal antigen 1 905 cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase cell junction|chromatin|chromosome, centromeric region|nucleoplasm protein binding ovary(2) 2 TCAGTGTTTCCTTAATAATAT 0.353 5 44 --- --- --- --- PASS ZBTB38 253461 broad.mit.edu 37 3 141163969 141163969 + Missense_Mutation SNP C A A TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr3:141163969C>A uc003etw.2 + 8 3721 c.2739C>A c.(2737-2739)GAC>GAA p.D913E ZBTB38_uc010hun.2_Missense_Mutation_p.D910E|ZBTB38_uc010huo.2_Missense_Mutation_p.D913E|ZBTB38_uc003ety.2_Missense_Mutation_p.D913E|ZBTB38_uc010hup.2_Missense_Mutation_p.D914E NM_001080412 NP_001073881 Q8NAP3 ZBT38_HUMAN zinc finger and BTB domain containing 38 913 positive regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(3) 3 ATTCCACTGACAAACCGTGGC 0.498 8 49 --- --- --- --- PASS ZBTB38 253461 broad.mit.edu 37 3 141164615 141164615 + Nonsense_Mutation SNP C T T TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr3:141164615C>T uc003etw.2 + 8 4367 c.3385C>T c.(3385-3387)CAG>TAG p.Q1129* ZBTB38_uc010hun.2_Nonsense_Mutation_p.Q1126*|ZBTB38_uc010huo.2_Nonsense_Mutation_p.Q1129*|ZBTB38_uc003ety.2_Nonsense_Mutation_p.Q1129*|ZBTB38_uc010hup.2_Nonsense_Mutation_p.Q1130* NM_001080412 NP_001073881 Q8NAP3 ZBT38_HUMAN zinc finger and BTB domain containing 38 1129 C2H2-type 10. positive regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(3) 3 TGCCTGCTTCCAGTGCCCCAA 0.463 13 181 --- --- --- --- PASS SLC9A9 285195 broad.mit.edu 37 3 142985708 142985708 + Missense_Mutation SNP G T T TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr3:142985708G>T uc003evn.2 - 16 1956 c.1774C>A c.(1774-1776)CAG>AAG p.Q592K NM_173653 NP_775924 Q8IVB4 SL9A9_HUMAN solute carrier family 9 (sodium/hydrogen 592 regulation of pH integral to membrane|late endosome membrane|recycling endosome sodium:hydrogen antiporter activity ovary(2)|skin(1) 3 GCTTGCTCCTGGTAATTTATG 0.488 17 80 --- --- --- --- PASS COMMD2 51122 broad.mit.edu 37 3 149459448 149459448 + Missense_Mutation SNP G T T TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr3:149459448G>T uc003exk.2 - 5 507 c.460C>A c.(460-462)CTT>ATT p.L154I COMMD2_uc003exj.1_5'Flank NM_016094 NP_057178 Q86X83 COMD2_HUMAN COMM domain containing 2 154 COMM. protein binding 0 LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048) TTTTGATTAAGGTGTAGCTTT 0.393 6 156 --- --- --- --- PASS CLRN1 7401 broad.mit.edu 37 3 150690325 150690325 + Missense_Mutation SNP A T T TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr3:150690325A>T uc003eyk.1 - 1 462 c.171T>A c.(169-171)TTT>TTA p.F57L CLRN1OS_uc011bny.1_Intron|CLRN1OS_uc003eyl.2_5'Flank NM_174878 NP_777367 P58418 CLRN1_HUMAN clarin 1 isoform a 57 equilibrioception|photoreceptor cell maintenance|response to stimulus|sensory perception of sound integral to membrane 0 LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066) TTTCACCCATAAACTTGTCCA 0.537 11 98 --- --- --- --- PASS IGSF10 285313 broad.mit.edu 37 3 151163652 151163652 + Missense_Mutation SNP C A A TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr3:151163652C>A uc011bod.1 - 4 4117 c.4117G>T c.(4117-4119)GCT>TCT p.A1373S NM_178822 NP_849144 Q6WRI0 IGS10_HUMAN immunoglobulin superfamily, member 10 precursor 1373 cell differentiation|multicellular organismal development|ossification extracellular region skin(7)|ovary(5)|central_nervous_system(1) 13 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) GGTGTCATAGCAGTGGGTGTA 0.473 30 146 --- --- --- --- PASS VEPH1 79674 broad.mit.edu 37 3 157188180 157188180 + Missense_Mutation SNP T G G TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr3:157188180T>G uc003fbj.1 - 3 594 c.277A>C c.(277-279)AAC>CAC p.N93H VEPH1_uc003fbk.1_Missense_Mutation_p.N93H|VEPH1_uc010hvu.1_Missense_Mutation_p.N93H|VEPH1_uc003fbm.2_Missense_Mutation_p.N93H|VEPH1_uc003fbn.2_Missense_Mutation_p.N93H NM_024621 NP_078897 Q14D04 MELT_HUMAN ventricular zone expressed PH domain homolog 1 93 plasma membrane breast(3)|ovary(1)|lung(1) 5 Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461) GGTCTCAGGTTATGTTCCAAG 0.458 33 45 --- --- --- --- PASS IFT80 57560 broad.mit.edu 37 3 159997010 159997010 + Missense_Mutation SNP C G G TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr3:159997010C>G uc011boy.1 - 16 2240 c.1807G>C c.(1807-1809)GAT>CAT p.D603H IFT80_uc003fda.2_RNA|IFT80_uc003fdb.1_Missense_Mutation_p.D466H|IFT80_uc003fdd.1_Missense_Mutation_p.D286H|IFT80_uc003fde.1_Missense_Mutation_p.D466H NM_020800 NP_065851 Q9P2H3 IFT80_HUMAN WD repeat domain 56 603 cilium axoneme|microtubule basal body ovary(1) 1 Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523) CTCACAGCATCTTCCCATTTT 0.343 18 71 --- --- --- --- PASS SI 6476 broad.mit.edu 37 3 164766995 164766995 + Nonsense_Mutation SNP G T T TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr3:164766995G>T uc003fei.2 - 15 1697 c.1635C>A c.(1633-1635)TGC>TGA p.C545* NM_001041 NP_001032 P14410 SUIS_HUMAN sucrase-isomaltase 545 Lumenal.|Isomaltase. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|brush border|Golgi apparatus|integral to membrane carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1) 14 Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199) Acarbose(DB00284) CAGCATCCATGCAAATTGTTT 0.328 HNSCC(35;0.089) 6 27 --- --- --- --- PASS SLITRK3 22865 broad.mit.edu 37 3 164906058 164906058 + Missense_Mutation SNP C G G TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr3:164906058C>G uc003fej.3 - 2 3005 c.2561G>C c.(2560-2562)GGG>GCG p.G854A SLITRK3_uc003fek.2_Missense_Mutation_p.G854A NM_014926 NP_055741 O94933 SLIK3_HUMAN slit and trk like 3 protein precursor 854 Cytoplasmic (Potential). integral to membrane ovary(6)|skin(3)|pancreas(1) 10 CAAGTCTCCCCCAGTTCCCCC 0.567 HNSCC(40;0.11) 19 99 --- --- --- --- PASS SLITRK3 22865 broad.mit.edu 37 3 164906748 164906748 + Missense_Mutation SNP G A A TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr3:164906748G>A uc003fej.3 - 2 2315 c.1871C>T c.(1870-1872)CCA>CTA p.P624L SLITRK3_uc003fek.2_Missense_Mutation_p.P624L NM_014926 NP_055741 O94933 SLIK3_HUMAN slit and trk like 3 protein precursor 624 Extracellular (Potential). integral to membrane ovary(6)|skin(3)|pancreas(1) 10 AGGCTGGGCTGGGGATTCTCC 0.547 HNSCC(40;0.11) 7 27 --- --- --- --- PASS ZBBX 79740 broad.mit.edu 37 3 167000262 167000262 + Nonsense_Mutation SNP G T T TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr3:167000262G>T uc003fep.2 - 19 2224 c.1901C>A c.(1900-1902)TCA>TAA p.S634* ZBBX_uc011bpc.1_Nonsense_Mutation_p.S673*|ZBBX_uc003feq.2_Nonsense_Mutation_p.S605* NM_024687 NP_078963 A8MT70 ZBBX_HUMAN zinc finger, B-box domain containing 634 intracellular zinc ion binding ovary(2) 2 ATTTGCTGTTGAAGGTCTCTG 0.343 33 151 --- --- --- --- PASS ZNF639 51193 broad.mit.edu 37 3 179052110 179052110 + Missense_Mutation SNP A G G TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr3:179052110A>G uc003fjq.1 + 6 1701 c.1358A>G c.(1357-1359)AAG>AGG p.K453R ZNF639_uc003fjr.1_Missense_Mutation_p.K453R NM_016331 NP_057415 Q9UID6 ZN639_HUMAN zinc finger protein 639 453 Interaction with CTNNA2.|C2H2-type 7. initiation of viral infection|negative regulation by host of viral transcription|negative regulation of transcription, DNA-dependent|positive regulation by host of viral transcription|positive regulation of cell growth|positive regulation of transcription, DNA-dependent nucleus protein self-association|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding 0 all_cancers(143;7.9e-17)|Ovarian(172;0.0172)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0923) CTAGATTTCAAGCATTCAGCT 0.328 9 40 --- --- --- --- PASS MCCC1 56922 broad.mit.edu 37 3 182756857 182756857 + Missense_Mutation SNP T C C TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr3:182756857T>C uc003fle.2 - 12 1471 c.1334A>G c.(1333-1335)CAG>CGG p.Q445R MCCC1_uc010hxi.2_RNA|MCCC1_uc011bqo.1_RNA|MCCC1_uc003flf.2_Missense_Mutation_p.Q328R|MCCC1_uc003flg.2_Missense_Mutation_p.Q336R|MCCC1_uc011bqp.1_Missense_Mutation_p.Q398R NM_020166 NP_064551 Q96RQ3 MCCA_HUMAN methylcrotonoyl-Coenzyme A carboxylase 1 (alpha) 445 Biotin carboxylation. biotin metabolic process|leucine catabolic process mitochondrial inner membrane|mitochondrial matrix ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|methylcrotonoyl-CoA carboxylase activity ovary(1)|central_nervous_system(1)|skin(1) 3 all_cancers(143;1.84e-14)|Ovarian(172;0.0355) all cancers(12;1.8e-44)|Epithelial(37;3.23e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;5.07e-21) Biotin(DB00121) CAATGCCGCCTGGCGATCTGC 0.512 50 38 --- --- --- --- PASS C3orf59 151963 broad.mit.edu 37 3 192635441 192635441 + Missense_Mutation SNP C A A TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr3:192635441C>A uc011bsp.1 - 1 510 c.189G>T c.(187-189)AAG>AAT p.K63N NM_178496 NP_848591 Q8IYB1 M21D2_HUMAN hypothetical protein LOC151963 63 0 all_cancers(143;1.56e-08)|Ovarian(172;0.0634) OV - Ovarian serous cystadenocarcinoma(49;2.8e-18)|LUSC - Lung squamous cell carcinoma(58;8.04e-06)|Lung(62;8.62e-06) GBM - Glioblastoma multiforme(46;3.86e-05) AGATGAAATCCTTGGCTGTGT 0.453 6 78 --- --- --- --- PASS CPN2 1370 broad.mit.edu 37 3 194062993 194062993 + Silent SNP G A A TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr3:194062993G>A uc003fts.2 - 2 529 c.439C>T c.(439-441)CTG>TTG p.L147L NM_001080513 NP_001073982 P22792 CPN2_HUMAN carboxypeptidase N, polypeptide 2 147 LRR 3. protein stabilization extracellular region enzyme regulator activity ovary(5) 5 all_cancers(143;5.31e-09)|Ovarian(172;0.0634) OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;4.65e-05) AGGGACTCCAGGGCAGCCAGG 0.612 8 32 --- --- --- --- PASS LRRC15 131578 broad.mit.edu 37 3 194080603 194080603 + Silent SNP G C C TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr3:194080603G>C uc003ftu.2 - 2 1256 c.1170C>G c.(1168-1170)GGC>GGG p.G390G LRRC15_uc003ftt.2_Silent_p.G396G NM_130830 NP_570843 Q8TF66 LRC15_HUMAN leucine rich repeat containing 15 isoform b 390 LRR 15.|Extracellular (Potential). integral to membrane ovary(3) 3 all_cancers(143;5.31e-09)|Ovarian(172;0.0634) OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;4.94e-05) TGGCCATGAGGCCATTGACGT 0.562 8 32 --- --- --- --- PASS TM4SF19 116211 broad.mit.edu 37 3 196050764 196050764 + Missense_Mutation SNP A T T TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr3:196050764A>T uc003fwl.1 - 5 679 c.554T>A c.(553-555)CTG>CAG p.L185Q TM4SF19_uc003fwj.2_RNA|uc003fwk.1_Missense_Mutation_p.Q10L|TM4SF19_uc010iad.1_Missense_Mutation_p.C184S|TM4SF19_uc011btv.1_Missense_Mutation_p.L159Q NM_138461 NP_612470 Q96DZ7 T4S19_HUMAN transmembrane 4 L six family member 19 185 Helical; (Potential). integral to membrane 0 all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Epithelial(36;3.94e-24)|all cancers(36;4.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.53e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00314) AAGCTGGAGCAGGCTGATGCA 0.572 11 73 --- --- --- --- PASS KIAA0226 9711 broad.mit.edu 37 3 197410253 197410253 + Silent SNP C T T TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr3:197410253C>T uc003fyc.2 - 13 2088 c.1905G>A c.(1903-1905)AAG>AAA p.K635K KIAA0226_uc003fyd.3_Silent_p.K590K|KIAA0226_uc003fye.1_Silent_p.K367K NM_014687 NP_055502 Q92622 RUBIC_HUMAN hypothetical protein LOC9711 isoform 2. 635 autophagy|endocytosis|negative regulation of autophagy|negative regulation of endocytosis early endosome|late endosome|lysosome protein binding 0 all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976) Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(93;0.0446) CCTCAAACTGCTTCAGGAGCC 0.597 15 53 --- --- --- --- PASS ZFYVE28 57732 broad.mit.edu 37 4 2274976 2274976 + Silent SNP C G G TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr4:2274976C>G uc003gex.1 - 10 2566 c.2247G>C c.(2245-2247)CTG>CTC p.L749L ZFYVE28_uc011bvk.1_Silent_p.L679L|ZFYVE28_uc011bvl.1_Silent_p.L719L|ZFYVE28_uc003gew.1_Silent_p.L635L NM_020972 NP_066023 Q9HCC9 LST2_HUMAN zinc finger, FYVE domain containing 28 749 negative regulation of epidermal growth factor receptor activity cytosol|early endosome membrane metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding skin(2)|ovary(1) 3 GAATACTTCTCAGGTCACTGG 0.527 4 47 --- --- --- --- PASS RGS12 6002 broad.mit.edu 37 4 3319286 3319286 + Missense_Mutation SNP G T T TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr4:3319286G>T uc003ggw.2 + 2 2293 c.1389G>T c.(1387-1389)AGG>AGT p.R463S RGS12_uc003ggu.2_Missense_Mutation_p.R463S|RGS12_uc010ics.1_Intron|RGS12_uc011bvr.1_RNA|RGS12_uc003ggv.2_Missense_Mutation_p.R463S|RGS12_uc003ggx.1_Missense_Mutation_p.R463S NM_198229 NP_937872 O14924 RGS12_HUMAN regulator of G-protein signalling 12 isoform 1 463 condensed nuclear chromosome|cytoplasm|plasma membrane GTPase activator activity|receptor signaling protein activity skin(1) 1 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) TGGGTGGGAGGGGTGCCCAGC 0.687 8 15 --- --- --- --- PASS EVC2 132884 broad.mit.edu 37 4 5699318 5699318 + Splice_Site SNP A G G TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr4:5699318A>G uc003gij.2 - 2 337 c.283_splice c.e2+1 p.V95_splice EVC2_uc011bwb.1_Splice_Site|EVC2_uc003gik.2_Splice_Site_p.V15_splice NM_147127 NP_667338 Q86UK5 LBN_HUMAN limbin integral to membrane large_intestine(3)|ovary(2) 5 AGAAAAACTCACCTGCAGTCT 0.448 13 17 --- --- --- --- PASS JAKMIP1 152789 broad.mit.edu 37 4 6080723 6080723 + Missense_Mutation SNP C A A TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr4:6080723C>A uc003giu.3 - 8 1521 c.1245G>T c.(1243-1245)GAG>GAT p.E415D JAKMIP1_uc010idb.1_Missense_Mutation_p.E415D|JAKMIP1_uc010idc.1_Intron|JAKMIP1_uc010idd.1_Missense_Mutation_p.E415D|JAKMIP1_uc011bwc.1_Missense_Mutation_p.E250D|JAKMIP1_uc003giv.3_Missense_Mutation_p.E415D|JAKMIP1_uc010ide.2_Missense_Mutation_p.E415D NM_144720 NP_653321 Q96N16 JKIP1_HUMAN janus kinase and microtubule interacting protein 415 Mediates interaction with TYK2 and GABBR1. protein transport cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex GABA receptor binding|RNA binding large_intestine(1)|pancreas(1)|ovary(1)|skin(1) 4 GCCGTTCTCTCTCCTAGAAGG 0.577 7 18 --- --- --- --- PASS PPP2R2C 5522 broad.mit.edu 37 4 6374278 6374278 + Missense_Mutation SNP C A A TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr4:6374278C>A uc003gjc.2 - 5 967 c.597G>T c.(595-597)TGG>TGT p.W199C PPP2R2C_uc003gjb.2_Missense_Mutation_p.W182C|PPP2R2C_uc011bwd.1_Missense_Mutation_p.W192C|PPP2R2C_uc011bwe.1_Missense_Mutation_p.W192C|PPP2R2C_uc003gja.2_Missense_Mutation_p.W199C|PPP2R2C_uc003gjd.1_Missense_Mutation_p.W287C NM_020416 NP_065149 Q9Y2T4 2ABG_HUMAN gamma isoform of regulatory subunit B55, protein 199 WD 3. signal transduction protein phosphatase type 2A complex protein phosphatase type 2A regulator activity ovary(1)|kidney(1)|central_nervous_system(1)|skin(1) 4 TGGCCAGGTGCCAGAGGTTGA 0.577 15 55 --- --- --- --- PASS BOD1L 259282 broad.mit.edu 37 4 13603499 13603499 + Silent SNP T C C TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr4:13603499T>C uc003gmz.1 - 10 5142 c.5025A>G c.(5023-5025)GAA>GAG p.E1675E BOD1L_uc010idr.1_Silent_p.E1012E NM_148894 NP_683692 Q8NFC6 BOD1L_HUMAN biorientation of chromosomes in cell division 1675 DNA binding ovary(5)|breast(1) 6 TAATAGTTCCTTCAACTATTT 0.393 27 129 --- --- --- --- PASS FGFBP1 9982 broad.mit.edu 37 4 15937711 15937711 + Missense_Mutation SNP G C C rs143807110 byFrequency TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr4:15937711G>C uc003gom.2 - 2 663 c.545C>G c.(544-546)TCT>TGT p.S182C NM_005130 NP_005121 Q14512 FGFP1_HUMAN fibroblast growth factor binding protein 1 182 cell-cell signaling|negative regulation of cell proliferation|signal transduction extracellular space|plasma membrane heparin binding 0 TGCTAGGCTAGAGGGGGTGGT 0.547 13 56 --- --- --- --- PASS LDB2 9079 broad.mit.edu 37 4 16504481 16504481 + Nonsense_Mutation SNP C A A TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr4:16504481C>A uc003goz.2 - 8 1223 c.907G>T c.(907-909)GGA>TGA p.G303* LDB2_uc003gpa.2_3'UTR|LDB2_uc003gpb.2_Nonsense_Mutation_p.G301*|LDB2_uc011bxh.1_Nonsense_Mutation_p.G275*|LDB2_uc010iee.2_3'UTR|LDB2_uc003goy.2_Nonsense_Mutation_p.G178*|LDB2_uc011bxi.1_3'UTR NM_001290 NP_001281 O43679 LDB2_HUMAN LIM domain binding 2 isoform a 303 LIM-binding domain (LID) (By similarity). LIM domain binding|transcription cofactor activity 0 GTTGGCTCTCCTACCACCATC 0.493 10 73 --- --- --- --- PASS SLIT2 9353 broad.mit.edu 37 4 20620527 20620527 + Silent SNP G T T TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr4:20620527G>T uc003gpr.1 + 37 4689 c.4485G>T c.(4483-4485)CTG>CTT p.L1495L SLIT2_uc003gps.1_Silent_p.L1487L NM_004787 NP_004778 O94813 SLIT2_HUMAN slit homolog 2 precursor 1495 CTCK. 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 GTGGACCGCTGAGGAGCAAGC 0.557 10 17 --- --- --- --- PASS GABRA2 2555 broad.mit.edu 37 4 46388100 46388100 + Nonsense_Mutation SNP C A A TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr4:46388100C>A uc003gxc.3 - 2 851 c.178G>T c.(178-180)GGA>TGA p.G60* GABRA2_uc010igc.2_Nonsense_Mutation_p.G60*|GABRA2_uc011bzc.1_Missense_Mutation_p.Q27H|GABRA2_uc003gxe.2_Nonsense_Mutation_p.G60*|GABRA2_uc010igd.1_Nonsense_Mutation_p.G60* NM_001114175 NP_001107647 P47869 GBRA2_HUMAN gamma-aminobutyric acid A receptor, alpha 2 60 Extracellular (Probable). gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity ovary(2)|skin(2) 4 Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) CCTCCCAGTCCTGGTCTAAGC 0.333 11 27 --- --- --- --- PASS TEC 7006 broad.mit.edu 37 4 48230636 48230636 + Translation_Start_Site SNP G A A TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr4:48230636G>A uc003gxz.2 - 2 87 c.-4C>T c.(-6--2)GACGG>GATGG NM_003215 NP_003206 P42680 TEC_HUMAN tec protein tyrosine kinase intracellular protein kinase cascade cytosol ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding lung(4)|stomach(1)|central_nervous_system(1)|breast(1)|skin(1)|ovary(1) 9 ATTCATCTCCGTCTTCTGATT 0.353 5 56 --- --- --- --- PASS CWH43 80157 broad.mit.edu 37 4 49052848 49052848 + Missense_Mutation SNP A C C TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr4:49052848A>C uc003gyv.2 + 15 2185 c.2003A>C c.(2002-2004)AAA>ACA p.K668T CWH43_uc011bzl.1_Missense_Mutation_p.K641T NM_025087 NP_079363 Q9H720 PG2IP_HUMAN cell wall biogenesis 43 C-terminal homolog 668 GPI anchor biosynthetic process integral to membrane skin(2)|ovary(1) 3 GTTTCTGAGAAAATTCATTTT 0.393 8 39 --- --- --- --- PASS LRRC66 339977 broad.mit.edu 37 4 52883611 52883611 + Missense_Mutation SNP C A A TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr4:52883611C>A uc003gzi.2 - 1 182 c.169G>T c.(169-171)GAC>TAC p.D57Y NM_001024611 NP_001019782 Q68CR7 LRC66_HUMAN leucine rich repeat containing 66 57 integral to membrane ovary(1)|central_nervous_system(1)|skin(1) 3 TGTGATATGTCCACAGGTATA 0.338 18 23 --- --- --- --- PASS KIT 3815 broad.mit.edu 37 4 55602887 55602887 + Missense_Mutation SNP G C C TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr4:55602887G>C uc010igr.2 + 19 2684 c.2597G>C c.(2596-2598)GGA>GCA p.G866A KIT_uc010igs.2_Missense_Mutation_p.G862A NM_000222 NP_000213 P10721 KIT_HUMAN v-kit Hardy-Zuckerman 4 feline sarcoma viral 866 Protein kinase.|Cytoplasmic (Potential). male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway extracellular space|integral to membrane ATP binding|protein binding|receptor signaling protein tyrosine kinase activity soft_tissue(3273)|haematopoietic_and_lymphoid_tissue(1572)|skin(99)|testis(49)|bone(21)|genital_tract(18)|kidney(17)|ovary(16)|salivary_gland(15)|large_intestine(11)|thymus(6)|lung(6)|central_nervous_system(4)|NS(3)|eye(2)|endometrium(2)|breast(1)|stomach(1)|autonomic_ganglia(1)|pancreas(1) 5118 all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101) LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209) Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171) Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268) TGTGTCTCAGGAAGCAGCCCC 0.473 1 Mis|O GIST|AML|TGCT|mastocytosis|mucosal melanoma GIST|epithelioma Piebald trait Mast_Cell_disease_Familial_Clustering_of|Piebaldism|Gastrointestinal_Stromal_Tumors_Sporadic_Multiple_Primary|Familial_Gastrointestinal_Stromal_Tumors 35 96 --- --- --- --- PASS EXOC1 55763 broad.mit.edu 37 4 56768606 56768606 + Missense_Mutation SNP G T T TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr4:56768606G>T uc003hbe.1 + 18 2592 c.2434G>T c.(2434-2436)GTC>TTC p.V812F EXOC1_uc003hbf.1_Missense_Mutation_p.V812F|EXOC1_uc003hbg.1_Missense_Mutation_p.V797F NM_018261 NP_060731 Q9NV70 EXOC1_HUMAN exocyst complex component 1 isoform 1 812 exocytosis|protein transport exocyst protein binding ovary(2)|skin(2)|lung(1)|central_nervous_system(1) 6 Glioma(25;0.08)|all_neural(26;0.101) ACTTCGTAAAGTCATTAAGGA 0.388 8 109 --- --- --- --- PASS EPHA5 2044 broad.mit.edu 37 4 66189906 66189906 + Missense_Mutation SNP C T T rs149835568 TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr4:66189906C>T uc003hcy.2 - 18 3233 c.3040G>A c.(3040-3042)GGT>AGT p.G1014S EPHA5_uc003hcx.2_Missense_Mutation_p.G946S|EPHA5_uc003hcz.2_Missense_Mutation_p.G992S|EPHA5_uc011cah.1_Missense_Mutation_p.G1015S|EPHA5_uc011cai.1_Missense_Mutation_p.G993S NM_004439 NP_004430 P54756 EPHA5_HUMAN ephrin receptor EphA5 isoform a precursor 1014 Cytoplasmic (Potential).|SAM. cAMP-mediated signaling|neuron development dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum ATP binding|transmembrane-ephrin receptor activity lung(19)|stomach(2)|ovary(2)|central_nervous_system(1) 24 TTCTGGTGACCGACAAGAGTC 0.428 TSP Lung(17;0.13) 12 17 --- --- --- --- PASS TMPRSS11D 9407 broad.mit.edu 37 4 68725388 68725388 + Missense_Mutation SNP C T T TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr4:68725388C>T uc003hdq.2 - 2 82 c.17G>A c.(16-18)CGT>CAT p.R6H LOC550112_uc003hdl.3_Intron|TMPRSS11D_uc011caj.1_Intron NM_004262 NP_004253 O60235 TM11D_HUMAN transmembrane protease, serine 11D 6 Cytoplasmic (Potential). proteolysis|respiratory gaseous exchange extracellular region|integral to plasma membrane serine-type endopeptidase activity ovary(1) 1 CGAAGTTACACGTGCTGGCCT 0.413 14 34 --- --- --- --- PASS AMBN 258 broad.mit.edu 37 4 71469636 71469636 + Missense_Mutation SNP G T T rs141521373 TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr4:71469636G>T uc003hfl.2 + 12 871 c.796G>T c.(796-798)GCA>TCA p.A266S NM_016519 NP_057603 Q9NP70 AMBN_HUMAN ameloblastin precursor 266 bone mineralization|cell adhesion|cell proliferation|odontogenesis of dentine-containing tooth proteinaceous extracellular matrix growth factor activity|structural constituent of tooth enamel ovary(3)|skin(1) 4 Lung(101;0.235) AGAAGAAGTGGCAGTGAGTAA 0.423 8 19 --- --- --- --- PASS SLC4A4 8671 broad.mit.edu 37 4 72332198 72332198 + Missense_Mutation SNP G A A TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr4:72332198G>A uc003hfy.2 + 13 1652 c.1535G>A c.(1534-1536)GGA>GAA p.G512E SLC4A4_uc010iic.2_Missense_Mutation_p.G512E|SLC4A4_uc010iib.2_Missense_Mutation_p.G512E|SLC4A4_uc003hfz.2_Missense_Mutation_p.G512E|SLC4A4_uc003hgc.3_Missense_Mutation_p.G468E|SLC4A4_uc010iid.2_Intron|SLC4A4_uc003hga.2_Missense_Mutation_p.G390E|SLC4A4_uc003hgb.3_Missense_Mutation_p.G468E NM_001098484 NP_001091954 Q9Y6R1 S4A4_HUMAN solute carrier family 4, sodium bicarbonate 512 Helical; (Potential). basolateral plasma membrane|integral to plasma membrane inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity ovary(3)|kidney(1)|skin(1) 5 Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225) GCTGTCTCTGGAGCCATCTTT 0.403 23 40 --- --- --- --- PASS GPRIN3 285513 broad.mit.edu 37 4 90169902 90169902 + Missense_Mutation SNP T C C TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr4:90169902T>C uc003hsm.1 - 2 1879 c.1360A>G c.(1360-1362)AAG>GAG p.K454E NM_198281 NP_938022 Q6ZVF9 GRIN3_HUMAN G protein-regulated inducer of neurite outgrowth 454 ovary(3) 3 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;5.67e-05) CCTGCGAGCTTTTTAGCAGTT 0.453 6 43 --- --- --- --- PASS UNC5C 8633 broad.mit.edu 37 4 96222890 96222890 + Silent SNP G T T TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr4:96222890G>T uc003htp.1 - 3 511 c.357C>A c.(355-357)GTC>GTA p.V119V UNC5C_uc010ilc.1_Silent_p.V119V|UNC5C_uc003htq.2_Silent_p.V119V NM_003728 NP_003719 O95185 UNC5C_HUMAN unc5C precursor 119 Extracellular (Potential).|Ig-like. apoptosis|axon guidance|brain development integral to membrane netrin receptor activity ovary(3)|pancreas(1) 4 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;8.72e-10) TCACTTCCCGGACAATGAGAC 0.448 5 17 --- --- --- --- PASS METAP1 23173 broad.mit.edu 37 4 99960601 99960601 + Missense_Mutation SNP G A A TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr4:99960601G>A uc003huf.3 + 5 534 c.417G>A c.(415-417)ATG>ATA p.M139I METAP1_uc003hug.2_RNA NM_015143 NP_055958 P53582 AMPM1_HUMAN methionyl aminopeptidase 1 139 N-terminal protein amino acid modification|peptidyl-methionine modification|proteolysis|regulation of translation cytoplasm aminopeptidase activity|metal ion binding|metalloexopeptidase activity|protein binding 0 OV - Ovarian serous cystadenocarcinoma(123;3.12e-07) TAGAAGGGATGCGACTTGTAT 0.363 15 48 --- --- --- --- PASS FAT4 79633 broad.mit.edu 37 4 126239869 126239869 + Missense_Mutation SNP G A A TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr4:126239869G>A uc003ifj.3 + 1 2303 c.2303G>A c.(2302-2304)GGT>GAT p.G768D NM_024582 NP_078858 Q6V0I7 FAT4_HUMAN FAT tumor suppressor homolog 4 precursor 768 Cadherin 7.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2) 18 GCTACTGATGGTGGCAATTTA 0.438 42 23 --- --- --- --- PASS FAT4 79633 broad.mit.edu 37 4 126369935 126369935 + Silent SNP C T T TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr4:126369935C>T uc003ifj.3 + 9 7764 c.7764C>T c.(7762-7764)ACC>ACT p.T2588T FAT4_uc011cgp.1_Silent_p.T886T|FAT4_uc003ifi.1_Silent_p.T66T NM_024582 NP_078858 Q6V0I7 FAT4_HUMAN FAT tumor suppressor homolog 4 precursor 2588 Extracellular (Potential).|Cadherin 25. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2) 18 TTGTCACCACCATCACAGGAT 0.333 13 28 --- --- --- --- PASS SLC10A7 84068 broad.mit.edu 37 4 147247142 147247142 + Missense_Mutation SNP C A A rs147461877 byFrequency TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr4:147247142C>A uc010ioz.2 - 6 696 c.442G>T c.(442-444)GTT>TTT p.V148F SLC10A7_uc003ikr.2_Missense_Mutation_p.V148F|SLC10A7_uc010ipa.2_Missense_Mutation_p.V135F|SLC10A7_uc003iks.2_RNA NM_001029998 NP_001025169 Q0GE19 NTCP7_HUMAN solute carrier family 10 (sodium/bile acid 148 Helical; (Potential). integral to membrane bile acid:sodium symporter activity 0 all_hematologic(180;0.151) GGTGTTATAACGATGCCCTGA 0.358 6 10 --- --- --- --- PASS DCLK2 166614 broad.mit.edu 37 4 151153526 151153526 + Missense_Mutation SNP G T T TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr4:151153526G>T uc003ilm.3 + 9 1437 c.1337G>T c.(1336-1338)CGA>CTA p.R446L DCLK2_uc003iln.3_Missense_Mutation_p.R445L|DCLK2_uc003ilo.3_Missense_Mutation_p.R463L|DCLK2_uc003ilp.3_RNA NM_001040260 NP_001035350 Q8N568 DCLK2_HUMAN doublecortin-like kinase 2 isoform a 446 Protein kinase. intracellular signal transduction cytoplasm|cytoskeleton ATP binding|protein serine/threonine kinase activity ovary(3) 3 all_hematologic(180;0.151) ATACTGCGCCGAGTGAAACAT 0.448 44 73 --- --- --- --- PASS KLKB1 3818 broad.mit.edu 37 4 187172721 187172721 + Missense_Mutation SNP G C C TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr4:187172721G>C uc003iyy.2 + 9 1020 c.949G>C c.(949-951)GTT>CTT p.V317L KLKB1_uc011clc.1_Missense_Mutation_p.V115L|KLKB1_uc011cld.1_Missense_Mutation_p.V279L NM_000892 NP_000883 P03952 KLKB1_HUMAN plasma kallikrein B1 precursor 317 Apple 4. blood coagulation, intrinsic pathway|Factor XII activation|fibrinolysis|plasminogen activation|positive regulation of fibrinolysis cytoplasm|extracellular space|plasma membrane serine-type endopeptidase activity ovary(1) 1 all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243) OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168) AGGAGTGAATGTTTGCCAAGA 0.363 3 30 --- --- --- --- PASS ADAMTS16 170690 broad.mit.edu 37 5 5186325 5186325 + Silent SNP T C C TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr5:5186325T>C uc003jdl.2 + 5 1062 c.924T>C c.(922-924)CAT>CAC p.H308H ADAMTS16_uc003jdk.1_Silent_p.H308H|ADAMTS16_uc003jdj.1_Silent_p.H308H NM_139056 NP_620687 Q8TE57 ATS16_HUMAN ADAM metallopeptidase with thrombospondin type 1 308 Peptidase M12B. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(3)|lung(2)|large_intestine(1)|breast(1)|pancreas(1) 8 ACCATGGCCATGAAAATATCA 0.453 13 36 --- --- --- --- PASS FASTKD3 79072 broad.mit.edu 37 5 7867883 7867883 + Missense_Mutation SNP C A A TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr5:7867883C>A uc003jeb.2 - 2 451 c.314G>T c.(313-315)AGA>ATA p.R105I FASTKD3_uc011cmp.1_Intron|FASTKD3_uc003jec.2_Intron|MTRR_uc010itn.1_5'Flank|MTRR_uc003jee.3_5'Flank|MTRR_uc003jed.2_5'Flank|MTRR_uc003jef.3_5'Flank|MTRR_uc003jeg.3_5'Flank|MTRR_uc010ito.2_5'Flank NM_024091 NP_076996 Q14CZ7 FAKD3_HUMAN FAST kinase domains 3 105 apoptosis|cellular respiration mitochondrion ATP binding|protein kinase activity ovary(2)|breast(1)|pancreas(1) 4 GTTGCTCAGTCTCCTGTAAAA 0.438 10 27 --- --- --- --- PASS DNAH5 1767 broad.mit.edu 37 5 13735337 13735337 + Nonsense_Mutation SNP G T T TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr5:13735337G>T uc003jfd.2 - 68 11706 c.11664C>A c.(11662-11664)TAC>TAA p.Y3888* DNAH5_uc003jfc.2_Nonsense_Mutation_p.Y56* NM_001369 NP_001360 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 3888 microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1) 31 Lung NSC(4;0.00476) TGTGCTCCTCGTACAGCCCTC 0.458 Kartagener_syndrome 15 37 --- --- --- --- PASS DNAH5 1767 broad.mit.edu 37 5 13864711 13864711 + Missense_Mutation SNP T A A TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr5:13864711T>A uc003jfd.2 - 28 4433 c.4391A>T c.(4390-4392)CAG>CTG p.Q1464L NM_001369 NP_001360 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 1464 Potential.|Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1) 31 Lung NSC(4;0.00476) CAAAAAAGCCTGCCAGTCCTT 0.502 Kartagener_syndrome 5 38 --- --- --- --- PASS MYO10 4651 broad.mit.edu 37 5 16818205 16818205 + Silent SNP G A A TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr5:16818205G>A uc003jft.3 - 3 660 c.192C>T c.(190-192)GGC>GGT p.G64G MYO10_uc003jfu.2_Silent_p.G31G|MYO10_uc003jfv.2_Silent_p.G64G NM_012334 NP_036466 Q9HD67 MYO10_HUMAN myosin X 64 Myosin head-like. axon guidance|signal transduction myosin complex actin binding|ATP binding|motor activity ovary(2)|pancreas(1) 3 TGTCATCCACGCCCTCCTCGT 0.463 5 30 --- --- --- --- PASS CDH12 1010 broad.mit.edu 37 5 21975358 21975358 + Missense_Mutation SNP G A A TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr5:21975358G>A uc010iuc.2 - 3 826 c.368C>T c.(367-369)CCT>CTT p.P123L CDH12_uc011cno.1_Missense_Mutation_p.P123L|CDH12_uc003jgk.2_Missense_Mutation_p.P123L NM_004061 NP_004052 P55289 CAD12_HUMAN cadherin 12, type 2 preproprotein 123 Cadherin 1.|Extracellular (Potential). adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2) 2 AGTGTAGAAAGGTTTCTCTTC 0.443 HNSCC(59;0.17) 11 50 --- --- --- --- PASS SPEF2 79925 broad.mit.edu 37 5 35705881 35705881 + Missense_Mutation SNP C T T TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr5:35705881C>T uc003jjo.2 + 18 2747 c.2636C>T c.(2635-2637)ACG>ATG p.T879M SPEF2_uc003jjq.3_Missense_Mutation_p.T874M|SPEF2_uc003jjp.1_Missense_Mutation_p.T365M NM_024867 NP_079143 Q9C093 SPEF2_HUMAN KPL2 protein isoform 1 879 Potential. nucleobase, nucleoside, nucleotide and nucleic acid metabolic process ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity skin(2)|ovary(1)|central_nervous_system(1) 4 all_lung(31;7.56e-05) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) GAAATTCTTACGACTGAAATA 0.269 6 24 --- --- --- --- PASS DDX4 54514 broad.mit.edu 37 5 55110787 55110787 + Missense_Mutation SNP C A A TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr5:55110787C>A uc003jqg.3 + 20 1848 c.1774C>A c.(1774-1776)CCA>ACA p.P592T DDX4_uc010ivz.2_Missense_Mutation_p.P572T|DDX4_uc003jqh.3_Missense_Mutation_p.P558T|DDX4_uc003jqj.2_Missense_Mutation_p.P443T NM_001136034 NP_001129506 Q9NQI0 DDX4_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 4 isoform 592 Helicase C-terminal. multicellular organismal development|sperm motility perinuclear region of cytoplasm|pi-body|piP-body ATP binding|ATP-dependent helicase activity|nucleic acid binding ovary(1)|skin(1) 2 Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223) TGGAAAGTGCCCAGTTCTTGT 0.403 16 43 --- --- --- --- PASS MAP3K1 4214 broad.mit.edu 37 5 56184162 56184162 + Missense_Mutation SNP A G G TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr5:56184162A>G uc003jqw.3 + 19 4868 c.4367A>G c.(4366-4368)AAT>AGT p.N1456S NM_005921 NP_005912 Q13233 M3K1_HUMAN mitogen-activated protein kinase kinase kinase 1456 Protein kinase. cellular response to mechanical stimulus|innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway cytosol ATP binding|zinc ion binding ovary(1)|skin(1) 2 Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223) OV - Ovarian serous cystadenocarcinoma(10;6.08e-40) AAACACTCCAATCATCTTGCT 0.388 8 23 --- --- --- --- PASS TRIM23 373 broad.mit.edu 37 5 64905270 64905270 + Missense_Mutation SNP C T T TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr5:64905270C>T uc003jty.2 - 6 930 c.844G>A c.(844-846)GAG>AAG p.E282K TRIM23_uc003jtw.2_Missense_Mutation_p.E282K|TRIM23_uc003jtx.2_Missense_Mutation_p.E282K NM_001656 NP_001647 P36406 TRI23_HUMAN ADP-ribosylation factor domain protein 1 isoform 282 interspecies interaction between organisms|small GTPase mediated signal transduction Golgi membrane|lysosomal membrane enzyme activator activity|GDP binding|GTP binding|GTPase activity|protein binding|ubiquitin-protein ligase activity|zinc ion binding ovary(3)|lung(1) 4 Lung NSC(167;3.24e-06)|Prostate(74;0.0138)|Breast(144;0.0433)|Ovarian(174;0.0545)|Colorectal(97;0.234) Lung(70;0.00473) CGGGCATTCTCTGCAGTCCCT 0.313 8 17 --- --- --- --- PASS ERBB2IP 55914 broad.mit.edu 37 5 65342183 65342183 + Silent SNP C A A TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr5:65342183C>A uc003juk.1 + 18 1913 c.1605C>A c.(1603-1605)ACC>ACA p.T535T ERBB2IP_uc003juh.1_Silent_p.T531T|ERBB2IP_uc003jui.1_Silent_p.T535T|ERBB2IP_uc003juj.1_Silent_p.T535T|ERBB2IP_uc011cqx.1_Silent_p.T535T|ERBB2IP_uc011cqy.1_Silent_p.T535T|ERBB2IP_uc011cqz.1_Intron|ERBB2IP_uc010iwx.1_Silent_p.T531T|ERBB2IP_uc003jul.1_Silent_p.T531T NM_018695 NP_061165 Q96RT1 LAP2_HUMAN ERBB2 interacting protein isoform 2 535 basal protein localization|cell adhesion|cell cycle|cell growth|epidermal growth factor receptor signaling pathway|establishment or maintenance of epithelial cell apical/basal polarity|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization basement membrane|cytoplasm|hemidesmosome|nucleus ErbB-2 class receptor binding|integrin binding|structural constituent of cytoskeleton ovary(3)|lung(2)|central_nervous_system(2) 7 Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234) UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191) TTACTTAGACCTCAGAAAGTA 0.289 30 58 --- --- --- --- PASS GPR98 84059 broad.mit.edu 37 5 89989742 89989742 + Missense_Mutation SNP G C C TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr5:89989742G>C uc003kju.2 + 33 7265 c.7169G>C c.(7168-7170)AGT>ACT p.S2390T GPR98_uc003kjt.2_Missense_Mutation_p.S96T|GPR98_uc003kjv.2_5'UTR NM_032119 NP_115495 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 precursor 2390 Extracellular (Potential). cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity ovary(11)|central_nervous_system(3)|pancreas(2) 16 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) TTGTTCTACAGTACTTCCGAC 0.438 5 11 --- --- --- --- PASS GPR98 84059 broad.mit.edu 37 5 90368330 90368330 + Silent SNP G A A TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr5:90368330G>A uc003kju.2 + 86 18315 c.18219G>A c.(18217-18219)GTG>GTA p.V6073V GPR98_uc003kjt.2_Silent_p.V3779V|GPR98_uc003kjw.2_Silent_p.V1734V|GPR98_uc003kjx.2_Silent_p.V101V NM_032119 NP_115495 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 precursor 6073 Helical; (Potential). cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity ovary(11)|central_nervous_system(3)|pancreas(2) 16 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) CGTGCCTCGTGGTGGTGTTCG 0.463 42 74 --- --- --- --- PASS CHD1 1105 broad.mit.edu 37 5 98232003 98232003 + Missense_Mutation SNP T G G TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr5:98232003T>G uc003knf.2 - 11 1785 c.1637A>C c.(1636-1638)CAA>CCA p.Q546P NM_001270 NP_001261 O14646 CHD1_HUMAN chromodomain helicase DNA binding protein 1 546 Helicase ATP-binding. regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding lung(2)|ovary(1)|breast(1)|pancreas(1) 5 all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117) COAD - Colon adenocarcinoma(37;0.0717) Epirubicin(DB00445) AATTTCCCTTTGCCAGGAAGT 0.363 11 23 --- --- --- --- PASS FER 2241 broad.mit.edu 37 5 108207163 108207163 + Missense_Mutation SNP G C C TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr5:108207163G>C uc003kop.1 + 7 1147 c.763G>C c.(763-765)GAT>CAT p.D255H FER_uc011cve.1_Missense_Mutation_p.D195H|FER_uc011cvf.1_RNA|FER_uc011cvg.1_Missense_Mutation_p.D80H NM_005246 NP_005237 P16591 FER_HUMAN fer (fps/fes related) tyrosine kinase 255 Important for interaction with membranes containing phosphoinositides. intracellular signal transduction|peptidyl-tyrosine phosphorylation cytoplasm|nucleus ATP binding|non-membrane spanning protein tyrosine kinase activity lung(2)|stomach(1)|ovary(1)|kidney(1) 5 all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152) OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174) TGAACAGATAGATCCTAGTAC 0.323 14 22 --- --- --- --- PASS WDR36 134430 broad.mit.edu 37 5 110461440 110461440 + Missense_Mutation SNP G A A TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr5:110461440G>A uc003kpd.2 + 22 2770 c.2653G>A c.(2653-2655)GAC>AAC p.D885N WDR36_uc010jbu.2_RNA NM_139281 NP_644810 Q8NI36 WDR36_HUMAN WD repeat domain 36 885 response to stimulus|rRNA processing|visual perception small-subunit processome ovary(1)|skin(1) 2 all_cancers(142;2.72e-05)|all_epithelial(76;4.4e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0418)|Ovarian(225;0.0443)|Colorectal(57;0.0465)|all_lung(232;0.0508)|Breast(839;0.244) OV - Ovarian serous cystadenocarcinoma(64;1.39e-08)|Epithelial(69;1.82e-07)|all cancers(49;2.04e-05)|COAD - Colon adenocarcinoma(37;0.111) GATGATGCTGGACAGAAAGCG 0.453 11 40 --- --- --- --- PASS KCNN2 3781 broad.mit.edu 37 5 113822787 113822787 + Missense_Mutation SNP T A A TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr5:113822787T>A uc003kqo.2 + 6 1752 c.1295T>A c.(1294-1296)CTA>CAA p.L432Q KCNN2_uc003kqp.2_Missense_Mutation_p.L84Q|KCNN2_uc010jcg.2_RNA|uc003kqr.1_Intron NM_021614 NP_067627 Q9H2S1 KCNN2_HUMAN small conductance calcium-activated potassium 432 Calmodulin-binding (By similarity). 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) GAAACATGGCTAATTTACAAA 0.333 22 34 --- --- --- --- PASS FBN2 2201 broad.mit.edu 37 5 127702111 127702111 + Missense_Mutation SNP C A A TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr5:127702111C>A uc003kuu.2 - 17 2700 c.2261G>T c.(2260-2262)GGC>GTC p.G754V FBN2_uc003kuv.2_Missense_Mutation_p.G721V NM_001999 NP_001990 P35556 FBN2_HUMAN fibrillin 2 precursor 754 TB 3. G -> S (in CCA). bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation microfibril calcium ion binding|extracellular matrix structural constituent ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1) 15 all_cancers(142;0.0216)|Prostate(80;0.0551) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146) ACTACAAAGGCCGTGGAATTC 0.323 7 10 --- --- --- --- PASS SLC27A6 28965 broad.mit.edu 37 5 128320941 128320941 + Silent SNP C A A TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr5:128320941C>A uc003kuy.2 + 3 993 c.597C>A c.(595-597)ACC>ACA p.T199T SLC27A6_uc003kuz.2_Silent_p.T199T NM_014031 NP_054750 Q9Y2P4 S27A6_HUMAN solute carrier family 27 (fatty acid 199 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) AACTGAGCACCTCACCTGATG 0.433 19 23 --- --- --- --- PASS IL4 3565 broad.mit.edu 37 5 132015524 132015524 + Missense_Mutation SNP A G G TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr5:132015524A>G uc003kxk.1 + 3 672 c.302A>G c.(301-303)AAG>AGG p.K101R IL4_uc003kxl.1_Missense_Mutation_p.K85R NM_000589 NP_000580 P05112 IL4_HUMAN interleukin 4 isoform 1 precursor 101 B cell differentiation|cellular defense response|chemotaxis|cholesterol metabolic process|connective tissue growth factor biosynthetic process|negative regulation of apoptosis|negative regulation of osteoclast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of B cell proliferation|positive regulation of interleukin-13 production|positive regulation of isotype switching to IgE isotypes|positive regulation of isotype switching to IgG isotypes|positive regulation of MHC class II biosynthetic process|positive regulation of T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|T-helper 2 cell cytokine production extracellular space cytokine activity|growth factor activity|interleukin-4 receptor binding 0 all_cancers(142;2.81e-05)|all_lung(232;1.47e-05)|Lung NSC(810;2.31e-05)|all_neural(839;0.0459)|Ovarian(839;0.0481)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) GBM - Glioblastoma multiforme(465;0.00245) CACAGGCACAAGCAGCTGATC 0.622 15 33 --- --- --- --- PASS FBXL21 26223 broad.mit.edu 37 5 135276949 135276949 + Silent SNP C T T TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr5:135276949C>T uc010jec.1 + 5 915 c.894C>T c.(892-894)CAC>CAT p.H298H FBXL21_uc003lbc.2_Intron NM_012159 NP_036291 Q9UKT6 FXL21_HUMAN F-box and leucine-rich repeat protein 21 298 rhythmic process ubiquitin ligase complex ubiquitin-protein ligase activity lung(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) TTGTTATGCACTTCTTTCTAT 0.368 20 32 --- --- --- --- PASS MIR886 100126299 broad.mit.edu 37 5 135416216 135416216 + RNA SNP A T T TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr5:135416216A>T hsa-mir-886|MI0005527 - c.82A>T 0 GCGGGTCTCGAACCCCAGCAC 0.458 6 26 --- --- --- --- PASS NRG2 9542 broad.mit.edu 37 5 139267090 139267090 + Missense_Mutation SNP C G G rs146573130 byFrequency TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr5:139267090C>G uc003lex.1 - 2 932 c.707G>C c.(706-708)CGG>CCG p.R236P NRG2_uc003lev.1_Missense_Mutation_p.R236P|NRG2_uc003lew.1_Missense_Mutation_p.R236P|NRG2_uc003ley.1_Missense_Mutation_p.R236P NM_004883 NP_004874 O14511 NRG2_HUMAN neuregulin 2 isoform 1 236 Extracellular (Potential). embryo development extracellular region|integral to membrane|plasma membrane growth factor activity pancreas(2)|breast(2)|ovary(1)|skin(1) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CAACTTGGGCCGGGTGGCTGT 0.587 7 4 --- --- --- --- PASS PCDHA2 56146 broad.mit.edu 37 5 140176274 140176274 + Silent SNP C A A TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr5:140176274C>A uc003lhd.2 + 1 1831 c.1725C>A c.(1723-1725)GGC>GGA p.G575G PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhc.1_Silent_p.G575G|PCDHA2_uc011czy.1_Silent_p.G575G NM_018905 NP_061728 Q9Y5H9 PCDA2_HUMAN protocadherin alpha 2 isoform 1 precursor 575 Extracellular (Potential). homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding|protein binding ovary(4) 4 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCGCTGCTGGCGCAGTGAGTG 0.672 30 55 --- --- --- --- PASS PCDHA3 56145 broad.mit.edu 37 5 140180879 140180879 + Missense_Mutation SNP T A A TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr5:140180879T>A uc003lhf.2 + 1 97 c.97T>A c.(97-99)TAC>AAC p.Y33N PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA2_uc011czy.1_Intron|PCDHA3_uc011czz.1_Missense_Mutation_p.Y33N NM_018906 NP_061729 Q9Y5H8 PCDA3_HUMAN protocadherin alpha 3 isoform 1 precursor 33 Cadherin 1.|Extracellular (Potential). homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding|protein binding ovary(6)|skin(2) 8 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCAGCTCCACTACTCCGTCTC 0.657 10 27 --- --- --- --- PASS PCDHA4 56144 broad.mit.edu 37 5 140188675 140188675 + Missense_Mutation SNP C G G TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr5:140188675C>G uc003lhi.2 + 1 2004 c.1903C>G c.(1903-1905)CGT>GGT p.R635G PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhh.1_Missense_Mutation_p.R635G|PCDHA4_uc011daa.1_Missense_Mutation_p.R635G NM_018907 NP_061730 Q9UN74 PCDA4_HUMAN protocadherin alpha 4 isoform 1 precursor 635 Cadherin 6.|Extracellular (Potential). homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding ovary(4)|skin(2) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CAGCACAACGCGTGCCCTGGA 0.687 30 46 --- --- --- --- PASS PCDHA13 56136 broad.mit.edu 37 5 140263823 140263823 + Missense_Mutation SNP C A A TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr5:140263823C>A uc003lif.2 + 1 1970 c.1970C>A c.(1969-1971)CCC>CAC p.P657H PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Missense_Mutation_p.P657H|PCDHA13_uc003lid.2_Missense_Mutation_p.P657H NM_018904 NP_061727 Q9Y5I0 PCDAD_HUMAN protocadherin alpha 13 isoform 1 precursor 657 Cadherin 6.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(3)|skin(2)|central_nervous_system(1) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CACGGTGAGCCCGCGCTGACG 0.692 16 32 --- --- --- --- PASS PCDHB9 56127 broad.mit.edu 37 5 140567751 140567751 + Missense_Mutation SNP G A A TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr5:140567751G>A uc003liw.1 + 1 859 c.859G>A c.(859-861)GAT>AAT p.D287N NM_019119 NP_061992 Q9Y5E1 PCDB9_HUMAN protocadherin beta 9 precursor 287 Extracellular (Potential).|Cadherin 3. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TGCTTCTGAAGATATTTTAAC 0.338 5 12 --- --- --- --- PASS SH3TC2 79628 broad.mit.edu 37 5 148427424 148427424 + Splice_Site SNP C A A TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr5:148427424C>A uc003lpu.2 - 3 431 c.279_splice c.e3+1 p.K93_splice SH3TC2_uc003lpp.1_Splice_Site|SH3TC2_uc003lpt.2_Splice_Site|SH3TC2_uc010jgx.2_Splice_Site_p.K93_splice|SH3TC2_uc003lpv.1_Splice_Site|SH3TC2_uc011dbz.1_Splice_Site|SH3TC2_uc003lpw.1_Missense_Mutation_p.V94L NM_024577 NP_078853 Q8TF17 S3TC2_HUMAN SH3 domain and tetratricopeptide repeats 2 binding ovary(2) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ttcatgctcacCTTAAACAGC 0.299 19 34 --- --- --- --- PASS NDST1 3340 broad.mit.edu 37 5 149912589 149912589 + Missense_Mutation SNP A C C TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr5:149912589A>C uc003lsk.3 + 4 1593 c.1091A>C c.(1090-1092)CAC>CCC p.H364P NDST1_uc011dcj.1_Missense_Mutation_p.H364P|NDST1_uc003lsl.2_Missense_Mutation_p.H364P NM_001543 NP_001534 P52848 NDST1_HUMAN N-deacetylase/N-sulfotransferase (heparan 364 Heparan sulfate N-deacetylase 1.|Lumenal (Potential). H -> Q (in Ref. 4; AAH12888). heparan sulfate proteoglycan biosynthetic process|inflammatory response Golgi membrane|integral to membrane [heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity breast(1)|skin(1) 2 all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) AAATTCTTCCACACAGGTAAG 0.572 21 37 --- --- --- --- PASS C5orf4 10826 broad.mit.edu 37 5 154200021 154200021 + Missense_Mutation SNP C A A TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr5:154200021C>A uc003lvs.3 - 9 1028 c.857G>T c.(856-858)TGC>TTC p.C286F C5orf4_uc003lvq.2_5'Flank|C5orf4_uc003lvr.2_Missense_Mutation_p.A26S|C5orf4_uc011dde.1_Missense_Mutation_p.C263F NM_032385 NP_115761 Q96IV6 CE004_HUMAN hypothetical protein LOC10826 286 fatty acid biosynthetic process integral to membrane iron ion binding|oxidoreductase activity ovary(1) 1 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.0999) KIRC - Kidney renal clear cell carcinoma(527;0.00112) CACCCCATAGCACTGGTTGAA 0.562 14 30 --- --- --- --- PASS DOCK2 1794 broad.mit.edu 37 5 169461420 169461420 + Missense_Mutation SNP C A A TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr5:169461420C>A uc003maf.2 + 35 3565 c.3485C>A c.(3484-3486)GCA>GAA p.A1162E DOCK2_uc011der.1_RNA|DOCK2_uc010jjm.2_Missense_Mutation_p.A654E NM_004946 NP_004937 Q92608 DOCK2_HUMAN dedicator of cytokinesis 2 1162 DHR-2.|Interaction with CRKL. actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction cytoskeleton|cytosol|endomembrane system|membrane electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding ovary(5)|pancreas(2) 7 Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) GAATGTGCTGCAGAGCACCCA 0.592 19 30 --- --- --- --- PASS COL23A1 91522 broad.mit.edu 37 5 177690210 177690210 + Missense_Mutation SNP G T T rs112924647 TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr5:177690210G>T uc003mje.2 - 9 996 c.638C>A c.(637-639)GCG>GAG p.A213E COL23A1_uc010jkt.2_Silent_p.R61R NM_173465 NP_775736 Q86Y22 CONA1_HUMAN collagen, type XXIII, alpha 1 213 Extracellular (Potential).|Collagen-like 1.|Gly-rich. collagen|integral to membrane|plasma membrane protein binding central_nervous_system(1)|skin(1) 2 all_cancers(89;0.00188)|Renal(175;0.000159)|Lung NSC(126;0.00814)|all_lung(126;0.0129) all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) OV - Ovarian serous cystadenocarcinoma(192;0.153)|all cancers(165;0.172) CTCTCTTACCGCTGGGCCTTG 0.552 6 25 --- --- --- --- PASS TBC1D9B 23061 broad.mit.edu 37 5 179305398 179305398 + Missense_Mutation SNP G T T TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr5:179305398G>T uc003mlh.2 - 10 1730 c.1693C>A c.(1693-1695)CCT>ACT p.P565T TBC1D9B_uc003mli.2_Missense_Mutation_p.P565T|TBC1D9B_uc003mlj.2_Missense_Mutation_p.P565T NM_198868 NP_942568 Q66K14 TBC9B_HUMAN TBC1 domain family, member 9B (with GRAM domain) 565 Rab-GAP TBC. integral to membrane|intracellular calcium ion binding|Rab GTPase activator activity breast(1)|skin(1) 2 all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243) all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) TGGAAGGCAGGGTGCTCGGGC 0.642 4 8 --- --- --- --- PASS BTNL8 79908 broad.mit.edu 37 5 180338406 180338406 + Missense_Mutation SNP G T T TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr5:180338406G>T uc003mmp.2 + 3 699 c.465G>T c.(463-465)CAG>CAT p.Q155H BTNL8_uc003mmq.2_Missense_Mutation_p.Q155H|BTNL8_uc011dhg.1_Missense_Mutation_p.Q30H|BTNL8_uc010jll.2_Missense_Mutation_p.Q155H|BTNL8_uc010jlm.2_Missense_Mutation_p.Q39H|BTNL8_uc011dhh.1_5'UTR NM_001040462 NP_001035552 Q6UX41 BTNL8_HUMAN butyrophilin-like 8 isoform 2 precursor 155 Ig-like V-type 2.|Extracellular (Potential). integral to membrane upper_aerodigestive_tract(1)|skin(1) 2 all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114) all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) TACTCTGTCAGTCCTCGGGCT 0.532 54 93 --- --- --- --- PASS PRPF4B 8899 broad.mit.edu 37 6 4032634 4032634 + Missense_Mutation SNP C T T TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr6:4032634C>T uc003mvv.2 + 2 974 c.883C>T c.(883-885)CCA>TCA p.P295S PRPF4B_uc011dhv.1_RNA NM_003913 NP_003904 Q13523 PRP4B_HUMAN serine/threonine-protein kinase PRP4K 295 Arg/Lys-rich (basic). catalytic step 2 spliceosome ATP binding|protein binding|protein serine/threonine kinase activity breast(5) 5 Ovarian(93;0.0925) all_hematologic(90;0.0895) ATCCAGATCCCCAGTTGATTT 0.333 51 135 --- --- --- --- PASS F13A1 2162 broad.mit.edu 37 6 6266881 6266881 + Missense_Mutation SNP A T T TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr6:6266881A>T uc003mwv.2 - 4 604 c.481T>A c.(481-483)TAT>AAT p.Y161N F13A1_uc011dib.1_Missense_Mutation_p.Y98N NM_000129 NP_000120 P00488 F13A_HUMAN coagulation factor XIII A1 subunit precursor 161 peptide cross-linking|platelet activation|platelet degranulation extracellular region|platelet alpha granule lumen acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity ovary(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|pancreas(1)|skin(1) 6 Ovarian(93;0.0816) all_hematologic(90;0.152) L-Glutamine(DB00130) ACAGCAACATACATGCGGAAT 0.502 18 31 --- --- --- --- PASS CAGE1 285782 broad.mit.edu 37 6 7365779 7365779 + Missense_Mutation SNP C A A TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr6:7365779C>A uc003mxi.2 - 7 2347 c.1626G>T c.(1624-1626)AAG>AAT p.K542N CAGE1_uc003mxh.2_RNA|CAGE1_uc003mxj.2_Missense_Mutation_p.K460N|CAGE1_uc003mxk.1_Missense_Mutation_p.K460N NM_205864 NP_995586 Q8TC20 CAGE1_HUMAN cancer antigen 1 678 0 Ovarian(93;0.0418) CTCTGATACTCTTGGCTTCAT 0.368 4 34 --- --- --- --- PASS NHLRC1 378884 broad.mit.edu 37 6 18121939 18121939 + Missense_Mutation SNP C G G TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr6:18121939C>G uc003ncl.1 - 1 913 c.899G>C c.(898-900)AGT>ACT p.S300T NM_198586 NP_940988 Q6VVB1 NHLC1_HUMAN NHL repeat containing 1 300 NHL 4. proteasomal ubiquitin-dependent protein catabolic process|protein polyubiquitination endoplasmic reticulum|nucleus protein binding|ubiquitin-protein ligase activity|zinc ion binding 0 Ovarian(93;0.016)|Breast(50;0.0245) all_hematologic(90;0.165) all cancers(50;0.0451)|Epithelial(50;0.0493) AAGCTGCATACTTGAGCTAAA 0.572 16 50 --- --- --- --- PASS HIST1H4C 8364 broad.mit.edu 37 6 26104290 26104290 + Missense_Mutation SNP G T T TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr6:26104290G>T uc003ngi.2 + 1 115 c.115G>T c.(115-117)GCT>TCT p.A39S NM_003542 NP_003533 P62805 H4_HUMAN histone cluster 1, H4c 39 CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance nucleoplasm|nucleosome DNA binding|protein binding 0 TCGCCGTTTGGCTCGGCGCGG 0.542 9 35 --- --- --- --- PASS HIST1H3E 8353 broad.mit.edu 37 6 26225436 26225436 + Silent SNP C A A TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr6:26225436C>A uc003nhb.2 + 2 414 c.54C>A c.(52-54)CGC>CGA p.R18R HIST1H3E_uc003nhc.3_Silent_p.R18R NM_021018 NP_066298 P68431 H31_HUMAN histone cluster 1, H3f 18 blood coagulation|nucleosome assembly|regulation of gene silencing|S phase nucleoplasm|nucleosome DNA binding|protein binding 0 all_hematologic(11;0.0223)|Acute lymphoblastic leukemia(11;0.0351) AAGCACCGCGCAAACAGCTGG 0.592 14 36 --- --- --- --- PASS ZNF391 346157 broad.mit.edu 37 6 27368915 27368915 + Nonsense_Mutation SNP A T T TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr6:27368915A>T uc003njf.1 + 3 1284 c.766A>T c.(766-768)AAA>TAA p.K256* NM_001076781 NP_001070249 Q9UJN7 ZN391_HUMAN zinc finger protein 391 256 C2H2-type 6. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding pancreas(2)|skin(1) 3 TAAATGTGGAAAAGCTTTCAG 0.443 10 25 --- --- --- --- PASS OR14J1 442191 broad.mit.edu 37 6 29275320 29275320 + Missense_Mutation SNP C A A TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr6:29275320C>A uc011dln.1 + 1 854 c.854C>A c.(853-855)CCA>CAA p.P285Q NM_030946 NP_112208 Q9UGF5 O14J1_HUMAN olfactory receptor, family 5, subfamily U member 285 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 ACACTCAATCCAGTCATTTAT 0.408 22 68 --- --- --- --- PASS KIFC1 3833 broad.mit.edu 37 6 33371295 33371295 + Missense_Mutation SNP C A A TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr6:33371295C>A uc003oef.3 + 5 788 c.338C>A c.(337-339)CCT>CAT p.P113H KIFC1_uc011drf.1_Missense_Mutation_p.P113H NM_002263 NP_002254 Q9BW19 KIFC1_HUMAN kinesin family member C1 113 blood coagulation|cell division|microtubule-based movement|mitotic sister chromatid segregation early endosome|microtubule|microtubule associated complex|microtubule organizing center|nucleus|spindle ATP binding|microtubule motor activity 0 CCTGCTGTTCCTGTCCAGAAG 0.488 5 60 --- --- --- --- PASS DNAH8 1769 broad.mit.edu 37 6 38802366 38802366 + Missense_Mutation SNP G T T TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr6:38802366G>T uc003ooe.1 + 30 4263 c.3663G>T c.(3661-3663)ATG>ATT p.M1221I NM_001371 NP_001362 dynein, axonemal, heavy polypeptide 8 skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1) 21 AAGGACCTATGGTTCCAAATA 0.308 27 68 --- --- --- --- PASS KCNK5 8645 broad.mit.edu 37 6 39162006 39162006 + Silent SNP G T T TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr6:39162006G>T uc003oon.2 - 4 937 c.573C>A c.(571-573)ATC>ATA p.I191I NM_003740 NP_003731 O95279 KCNK5_HUMAN potassium channel, subfamily K, member 5 191 excretion integral to plasma membrane potassium channel activity|voltage-gated ion channel activity central_nervous_system(1)|skin(1) 2 AGAGGCCCTCGATGTAGTTCC 0.562 18 50 --- --- --- --- PASS LRFN2 57497 broad.mit.edu 37 6 40399687 40399687 + Missense_Mutation SNP G C C TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr6:40399687G>C uc003oph.1 - 2 1631 c.1166C>G c.(1165-1167)ACT>AGT p.T389S NM_020737 NP_065788 Q9ULH4 LRFN2_HUMAN leucine rich repeat and fibronectin type III 389 Extracellular (Potential). cell junction|integral to membrane|postsynaptic membrane ovary(2)|skin(1) 3 Ovarian(28;0.0418)|Colorectal(47;0.196) GGGGGGTGCAGTGCGGCTGGT 0.667 5 22 --- --- --- --- PASS TDRD6 221400 broad.mit.edu 37 6 46656980 46656980 + Missense_Mutation SNP T A A TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr6:46656980T>A uc003oyj.2 + 1 1115 c.1115T>A c.(1114-1116)GTG>GAG p.V372E TDRD6_uc010jze.2_Missense_Mutation_p.V366E NM_001010870 NP_001010870 O60522 TDRD6_HUMAN tudor domain containing 6 372 cell differentiation|multicellular organismal development|spermatogenesis chromatoid body nucleic acid binding breast(3)|ovary(2)|skin(1) 6 Lung(136;0.192) ATGCCGGTGGTGACCTACCCT 0.547 14 56 --- --- --- --- PASS CRISP1 167 broad.mit.edu 37 6 49816007 49816007 + Missense_Mutation SNP C A A TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr6:49816007C>A uc003ozw.2 - 4 280 c.201G>T c.(199-201)TGG>TGT p.W67C CRISP1_uc003ozx.2_Missense_Mutation_p.W67C NM_001131 NP_001122 P54107 CRIS1_HUMAN acidic epididymal glycoprotein-like 1 isoform 1 67 fusion of sperm to egg plasma membrane extracellular space 0 Lung NSC(77;0.0358) CCTCTTCACTCCAACTCTGTA 0.328 8 34 --- --- --- --- PASS DEFB112 245915 broad.mit.edu 37 6 50011464 50011464 + Missense_Mutation SNP C G G TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr6:50011464C>G uc011dws.1 - 2 166 c.166G>C c.(166-168)GCG>CCG p.A56P NM_001037498 NP_001032587 Q30KQ8 DB112_HUMAN beta-defensin 112 precursor 56 defense response to bacterium extracellular region central_nervous_system(1) 1 Lung NSC(77;0.042) CCTCCAATCGCTGTACATGAC 0.438 15 53 --- --- --- --- PASS PKHD1 5314 broad.mit.edu 37 6 51907739 51907739 + Silent SNP G C C TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr6:51907739G>C uc003pah.1 - 27 3291 c.3015C>G c.(3013-3015)GCC>GCG p.A1005A PKHD1_uc003pai.2_Silent_p.A1005A NM_138694 NP_619639 P08F94 PKHD1_HUMAN fibrocystin isoform 1 1005 IPT/TIG 4.|Extracellular (Potential). cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body protein binding|receptor activity lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1) 44 Lung NSC(77;0.0605) TGGCACTGATGGCAAGACCAG 0.473 34 48 --- --- --- --- PASS PKHD1 5314 broad.mit.edu 37 6 51907740 51907740 + Missense_Mutation SNP G T T TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr6:51907740G>T uc003pah.1 - 27 3290 c.3014C>A c.(3013-3015)GCC>GAC p.A1005D PKHD1_uc003pai.2_Missense_Mutation_p.A1005D NM_138694 NP_619639 P08F94 PKHD1_HUMAN fibrocystin isoform 1 1005 IPT/TIG 4.|Extracellular (Potential). cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body protein binding|receptor activity lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1) 44 Lung NSC(77;0.0605) GGCACTGATGGCAAGACCAGA 0.473 34 49 --- --- --- --- PASS GSTA1 2938 broad.mit.edu 37 6 52661110 52661110 + Nonsense_Mutation SNP C A A TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr6:52661110C>A uc003paz.2 - 4 254 c.142G>T c.(142-144)GGA>TGA p.G48* NM_145740 NP_665683 P08263 GSTA1_HUMAN glutathione S-transferase alpha 1 48 GST N-terminal. glutathione metabolic process|xenobiotic metabolic process cytosol glutathione transferase activity ovary(1) 1 Lung NSC(77;0.118) Amsacrine(DB00276)|Busulfan(DB01008)|Glutathione(DB00143) ATCAAATATCCATCTTTAGAA 0.403 5 119 --- --- --- --- PASS DST 667 broad.mit.edu 37 6 56394534 56394534 + Silent SNP T C C TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr6:56394534T>C uc003pdf.2 - 60 10978 c.10950A>G c.(10948-10950)TTA>TTG p.L3650L DST_uc003pcz.3_Silent_p.L3472L|DST_uc011dxj.1_Silent_p.L3501L|DST_uc011dxk.1_Silent_p.L3512L|DST_uc003pcy.3_Silent_p.L3146L NM_001144769 NP_001138241 Q03001 DYST_HUMAN dystonin isoform 2 5558 Spectrin 9. cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1) 14 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) CAGCCTGGTGTAAATGTTTAT 0.299 9 21 --- --- --- --- PASS EEF1A1 1915 broad.mit.edu 37 6 74228328 74228328 + Missense_Mutation SNP C A A TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr6:74228328C>A uc003phi.2 - 5 815 c.778G>T c.(778-780)GGT>TGT p.G260C EEF1A1_uc003phd.2_5'UTR|EEF1A1_uc003phe.2_Missense_Mutation_p.G250C|EEF1A1_uc003phf.2_Missense_Mutation_p.G260C|EEF1A1_uc003phg.2_Missense_Mutation_p.G260C|EEF1A1_uc003phh.2_Missense_Mutation_p.G106C|EEF1A1_uc003phj.2_Missense_Mutation_p.G260C|EEF1A1_uc003phk.2_Missense_Mutation_p.G260C|EEF1A1_uc003phl.2_Intron|EEF1A1_uc003phm.1_Intron NM_001402 NP_001393 P68104 EF1A1_HUMAN eukaryotic translation elongation factor 1 alpha 260 cytosol|eukaryotic translation elongation factor 1 complex GTP binding|GTPase activity|protein binding|translation elongation factor activity 0 GGAACAGTACCAATACCTAAA 0.413 OREG0003895 type=REGULATORY REGION|Gene=D16891|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 5 38 --- --- --- --- PASS COL12A1 1303 broad.mit.edu 37 6 75825592 75825592 + Silent SNP A T T TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr6:75825592A>T uc003phs.2 - 49 7771 c.7605T>A c.(7603-7605)GCT>GCA p.A2535A COL12A1_uc003pht.2_Silent_p.A1371A NM_004370 NP_004361 Q99715 COCA1_HUMAN collagen, type XII, alpha 1 long isoform 2535 TSP N-terminal.|Nonhelical region (NC3). cell adhesion|collagen fibril organization|skeletal system development collagen type XII|extracellular space extracellular matrix structural constituent conferring tensile strength ovary(6)|large_intestine(1)|breast(1)|skin(1) 9 CTTGTACAGAAGCAAAATTCT 0.363 16 80 --- --- --- --- PASS HTR1E 3354 broad.mit.edu 37 6 87726039 87726039 + Silent SNP G T T TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr6:87726039G>T uc003pli.2 + 2 1690 c.987G>T c.(985-987)CTG>CTT p.L329L NM_000865 NP_000856 P28566 5HT1E_HUMAN 5-hydroxytryptamine (serotonin) receptor 1E 329 Helical; Name=7; (By similarity). G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission integral to plasma membrane protein binding|serotonin binding|serotonin receptor activity ovary(2)|skin(1) 3 all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819) BRCA - Breast invasive adenocarcinoma(108;0.055) Eletriptan(DB00216) CCGACTTTCTGACGTGGCTCG 0.443 23 91 --- --- --- --- PASS CNR1 1268 broad.mit.edu 37 6 88853983 88853983 + Missense_Mutation SNP C A A TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr6:88853983C>A uc011dzq.1 - 2 4574 c.1011G>T c.(1009-1011)ATG>ATT p.M337I CNR1_uc010kbz.2_Missense_Mutation_p.M337I|CNR1_uc011dzr.1_Missense_Mutation_p.M337I|CNR1_uc011dzs.1_Missense_Mutation_p.M337I|CNR1_uc003pmq.3_Missense_Mutation_p.M337I|CNR1_uc011dzt.1_Missense_Mutation_p.M337I|CNR1_uc010kca.2_Missense_Mutation_p.M304I NM_001160260 NP_001153732 P21554 CNR1_HUMAN cannabinoid receptor 1 isoform a 337 Cytoplasmic (Potential). G-protein signaling, coupled to cAMP nucleotide second messenger integral to plasma membrane cannabinoid receptor activity|protein binding skin(2) 2 all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011) BRCA - Breast invasive adenocarcinoma(108;0.15) Marinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155) ACCTAATGTCCATGCGGGCTT 0.557 23 64 --- --- --- --- PASS EPHA7 2045 broad.mit.edu 37 6 93969136 93969136 + Silent SNP A T T TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr6:93969136A>T uc003poe.2 - 10 2101 c.1860T>A c.(1858-1860)GCT>GCA p.A620A EPHA7_uc003pof.2_Silent_p.A615A|EPHA7_uc011eac.1_Silent_p.A616A NM_004440 NP_004431 Q15375 EPHA7_HUMAN ephrin receptor EphA7 precursor 620 Cytoplasmic (Potential). integral to plasma membrane ATP binding|ephrin receptor activity lung(8)|ovary(7)|upper_aerodigestive_tract(3)|central_nervous_system(3)|skin(3)|large_intestine(2)|stomach(1)|pancreas(1) 28 all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142) BRCA - Breast invasive adenocarcinoma(108;0.0847) ATTGATGGACAGCTCTATTTG 0.433 8 60 --- --- --- --- PASS BEND3 57673 broad.mit.edu 37 6 107391211 107391211 + Missense_Mutation SNP T A A TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr6:107391211T>A uc003prs.2 - 5 1834 c.1184A>T c.(1183-1185)CAG>CTG p.Q395L NM_001080450 NP_001073919 Q5T5X7 BEND3_HUMAN BEN domain containing 3 395 BEN 2. ovary(3) 3 AGTGAGGTCCTGCGTGTCCAC 0.632 12 57 --- --- --- --- PASS FRK 2444 broad.mit.edu 37 6 116288787 116288787 + Silent SNP A T T TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr6:116288787A>T uc003pwi.1 - 4 1173 c.726T>A c.(724-726)TCT>TCA p.S242S NM_002031 NP_002022 P42685 FRK_HUMAN fyn-related kinase 242 ATP (By similarity).|Protein kinase. negative regulation of cell proliferation cytoplasm|nucleus ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding ovary(3)|lung(3) 6 all_cancers(87;0.00559)|all_epithelial(87;0.00738)|Colorectal(196;0.0465) all cancers(137;0.0128)|OV - Ovarian serous cystadenocarcinoma(136;0.0209)|GBM - Glioblastoma multiforme(226;0.0459)|Epithelial(106;0.0625) CAAACTGACCAGATCCCAATC 0.458 15 84 --- --- --- --- PASS ROS1 6098 broad.mit.edu 37 6 117714485 117714485 + Splice_Site SNP C G G rs150002762 TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr6:117714485C>G uc003pxp.1 - 11 1364 c.1165_splice c.e11-1 p.V389_splice ROS1_uc011ebi.1_Splice_Site|GOPC_uc003pxq.1_Intron NM_002944 NP_002935 P08922 ROS_HUMAN proto-oncogene c-ros-1 protein precursor transmembrane receptor protein tyrosine kinase signaling pathway membrane fraction|sodium:potassium-exchanging ATPase complex ATP binding|transmembrane receptor protein tyrosine kinase activity lung(8)|ovary(6)|central_nervous_system(3)|skin(3)|stomach(2)|breast(2)|large_intestine(1) 25 all_cancers(87;0.00846)|all_epithelial(87;0.0242) GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137) AGACACATACCTAAAAAAATA 0.368 T GOPC|ROS1 glioblastoma|NSCLC 5 139 --- --- --- --- PASS MAN1A1 4121 broad.mit.edu 37 6 119514988 119514988 + Missense_Mutation SNP T A A TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr6:119514988T>A uc003pym.1 - 9 1722 c.1280A>T c.(1279-1281)GAC>GTC p.D427V NM_005907 NP_005898 P33908 MA1A1_HUMAN mannosidase, alpha, class 1A, member 1 427 Lumenal (Potential). post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum|ER-Golgi intermediate compartment|Golgi membrane|integral to membrane|membrane fraction calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity ovary(2)|central_nervous_system(1)|skin(1) 4 all_epithelial(87;0.173) OV - Ovarian serous cystadenocarcinoma(136;0.0612)|GBM - Glioblastoma multiforme(226;0.0702)|all cancers(137;0.115) ATCTGTCTTGTCAGACATTAA 0.383 8 39 --- --- --- --- PASS C6orf170 221322 broad.mit.edu 37 6 121577251 121577251 + Silent SNP A G G TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr6:121577251A>G uc003pyo.1 - 16 1982 c.1914T>C c.(1912-1914)TCT>TCC p.S638S C6orf170_uc003pyq.1_RNA|C6orf170_uc003pyp.1_Silent_p.S157S NM_152730 NP_689943 Q96NH3 BROMI_HUMAN hypothetical protein LOC221322 638 multicellular organismal development cilium|cytoplasm Rab GTPase activator activity central_nervous_system(2)|ovary(1) 3 GBM - Glioblastoma multiforme(226;0.00521) CCTTTGCTATAGATTCATGCA 0.338 8 20 --- --- --- --- PASS GJA1 2697 broad.mit.edu 37 6 121768886 121768886 + Missense_Mutation SNP G C C TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr6:121768886G>C uc003pyr.2 + 2 1143 c.893G>C c.(892-894)TGC>TCC p.C298S GJA1_uc011ebo.1_Missense_Mutation_p.C199S|GJA1_uc011ebp.1_Missense_Mutation_p.C86S NM_000165 NP_000156 P17302 CXA1_HUMAN connexin 43 298 Cytoplasmic (Potential). cell-cell signaling|cellular membrane organization|gap junction assembly|heart development|muscle contraction|positive regulation of I-kappaB kinase/NF-kappaB cascade connexon complex|Golgi-associated vesicle membrane|integral to plasma membrane|membrane raft ion transmembrane transporter activity|signal transducer activity ovary(2) 2 GBM - Glioblastoma multiforme(226;0.00252) Carvedilol(DB01136) AATTCTTCTTGCCGCAATTAC 0.493 28 68 --- --- --- --- PASS FABP7 2173 broad.mit.edu 37 6 123101603 123101603 + Missense_Mutation SNP T C C TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr6:123101603T>C uc003pzf.2 + 2 535 c.241T>C c.(241-243)TGT>CGT p.C81R FABP7_uc003pzd.2_Missense_Mutation_p.C81R|FABP7_uc003pze.1_Missense_Mutation_p.C81R NM_001446 NP_001437 O15540 FABP7_HUMAN fatty acid binding protein 7, brain 81 negative regulation of cell proliferation cytoplasm lipid binding|transporter activity 0 GBM - Glioblastoma multiforme(226;0.226) Alpha-Linolenic Acid(DB00132)|gamma-Homolinolenic acid(DB00154)|Icosapent(DB00159) TGATAGAAACTGTAAGGTGAG 0.413 10 37 --- --- --- --- PASS CLVS2 134829 broad.mit.edu 37 6 123376952 123376952 + Missense_Mutation SNP T G G TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr6:123376952T>G uc003pzi.1 + 5 1546 c.677T>G c.(676-678)ATA>AGA p.I226R NM_001010852 NP_001010852 Q5SYC1 CLVS2_HUMAN retinaldehyde binding protein 1-like 2 226 CRAL-TRIO. lysosome organization clathrin-coated vesicle|early endosome membrane|trans-Golgi network phosphatidylinositol-3,5-bisphosphate binding|transporter activity ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1) 5 CATTTATAGATATTTTTGCAT 0.433 14 31 --- --- --- --- PASS THEMIS 387357 broad.mit.edu 37 6 128134372 128134372 + Missense_Mutation SNP C A A rs144858181 TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr6:128134372C>A uc003qbi.2 - 5 1733 c.1414G>T c.(1414-1416)GTG>TTG p.V472L THEMIS_uc010kfa.2_Missense_Mutation_p.V375L|THEMIS_uc011ebt.1_Missense_Mutation_p.V472L|THEMIS_uc010kfb.2_Missense_Mutation_p.V437L NM_001010923 NP_001010923 Q8N1K5 THMS1_HUMAN thymocyte selection pathway associated isoform 472 CABIT 2. negative T cell selection|positive T cell selection|T cell receptor signaling pathway cytoplasm|nucleus ovary(2)|skin(2) 4 GCAGCCAACACGTCCTCTTCA 0.483 5 22 --- --- --- --- PASS THEMIS 387357 broad.mit.edu 37 6 128150997 128150997 + Missense_Mutation SNP T A A TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr6:128150997T>A uc003qbi.2 - 4 652 c.333A>T c.(331-333)AGA>AGT p.R111S THEMIS_uc010kfa.2_Missense_Mutation_p.R14S|THEMIS_uc011ebt.1_Missense_Mutation_p.R111S|THEMIS_uc010kfb.2_Missense_Mutation_p.R76S NM_001010923 NP_001010923 Q8N1K5 THMS1_HUMAN thymocyte selection pathway associated isoform 111 CABIT 1. negative T cell selection|positive T cell selection|T cell receptor signaling pathway cytoplasm|nucleus ovary(2)|skin(2) 4 GATGCCCTAGTCTACTTGGTC 0.383 12 34 --- --- --- --- PASS LAMA2 3908 broad.mit.edu 37 6 129759879 129759879 + Silent SNP T G G TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr6:129759879T>G uc003qbn.2 + 42 6162 c.6057T>G c.(6055-6057)ACT>ACG p.T2019T LAMA2_uc003qbo.2_Silent_p.T2019T NM_000426 NP_000417 P24043 LAMA2_HUMAN laminin alpha 2 subunit isoform a precursor 2019 Domain II and I.|Potential. cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity ovary(8)|breast(1)|skin(1) 10 OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245) TGAATGACACTTTGGGAAAGT 0.368 10 57 --- --- --- --- PASS TMEM200A 114801 broad.mit.edu 37 6 130762800 130762800 + Silent SNP A G G rs141922342 byFrequency TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr6:130762800A>G uc003qca.2 + 3 2104 c.1233A>G c.(1231-1233)GCA>GCG p.A411A TMEM200A_uc010kfh.2_Silent_p.A411A|TMEM200A_uc010kfi.2_Silent_p.A411A|TMEM200A_uc003qcb.2_Silent_p.A411A NM_052913 NP_443145 Q86VY9 T200A_HUMAN transmembrane protein 200A 411 Cytoplasmic (Potential). integral to membrane ovary(1) 1 GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12) CTGTTCAGGCAGAACAACGGA 0.478 18 43 --- --- --- --- PASS TXLNB 167838 broad.mit.edu 37 6 139609763 139609763 + Missense_Mutation SNP C A A TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr6:139609763C>A uc011eds.1 - 2 439 c.274G>T c.(274-276)GCA>TCA p.A92S NM_153235 NP_694967 Q8N3L3 TXLNB_HUMAN taxilin beta 92 cytoplasm large_intestine(1)|ovary(1) 2 OV - Ovarian serous cystadenocarcinoma(155;0.000185)|GBM - Glioblastoma multiforme(68;0.000235) GGTGATTCTGCATTCTCAGGC 0.547 23 41 --- --- --- --- PASS SHPRH 257218 broad.mit.edu 37 6 146264293 146264293 + Missense_Mutation SNP A T T TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr6:146264293A>T uc003qlf.2 - 9 2623 c.2224T>A c.(2224-2226)TCT>ACT p.S742T SHPRH_uc003qld.2_Missense_Mutation_p.S742T|SHPRH_uc003qle.2_Missense_Mutation_p.S742T|SHPRH_uc003qlg.1_Missense_Mutation_p.S298T|SHPRH_uc003qlj.1_Missense_Mutation_p.S631T NM_001042683 NP_001036148 Q149N8 SHPRH_HUMAN SNF2 histone linker PHD RING helicase isoform a 742 Helicase ATP-binding; second part. DNA repair|nucleosome assembly nucleosome|nucleus ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding ovary(1)|kidney(1)|central_nervous_system(1) 3 Ovarian(120;0.0365) OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124) ACTCGAAGAGATGACGACCTC 0.438 13 42 --- --- --- --- PASS SYNE1 23345 broad.mit.edu 37 6 152644691 152644691 + Missense_Mutation SNP T C C TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr6:152644691T>C uc010kiw.2 - 82 16441 c.15839A>G c.(15838-15840)CAG>CGG p.Q5280R SYNE1_uc003qot.3_Missense_Mutation_p.Q5209R|SYNE1_uc003qou.3_Missense_Mutation_p.Q5280R|SYNE1_uc010kiz.2_Missense_Mutation_p.Q1035R NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 5280 Cytoplasmic (Potential). cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2) 45 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) GGCTCCATCCTGGAGCATGCT 0.562 HNSCC(10;0.0054) 4 15 --- --- --- --- PASS SLC22A2 6582 broad.mit.edu 37 6 160671686 160671686 + Silent SNP T A A TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr6:160671686T>A uc003qtf.2 - 3 737 c.567A>T c.(565-567)GCA>GCT p.A189A SLC22A2_uc003qte.1_Silent_p.A189A|SLC22A2_uc003qth.1_Silent_p.A189A NM_003058 NP_003049 O15244 S22A2_HUMAN solute carrier family 22 member 2 189 Helical; (Potential). body fluid secretion|neurotransmitter biosynthetic process|neurotransmitter secretion integral to plasma membrane|membrane fraction neurotransmitter transporter activity|organic cation transmembrane transporter activity breast(1)|skin(1) 2 Breast(66;0.000776)|Ovarian(120;0.0303) OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06) GAACTCCAGCTGCAGCATTTA 0.433 26 33 --- --- --- --- PASS RPS6KA2 6196 broad.mit.edu 37 6 166952269 166952269 + Missense_Mutation SNP C G G TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr6:166952269C>G uc003qvb.1 - 2 322 c.103G>C c.(103-105)GAA>CAA p.E35Q RPS6KA2_uc011ego.1_5'UTR|RPS6KA2_uc010kkl.1_5'UTR|RPS6KA2_uc003qvc.1_Missense_Mutation_p.E43Q|RPS6KA2_uc003qvd.1_Missense_Mutation_p.E60Q NM_021135 NP_066958 Q15349 KS6A2_HUMAN ribosomal protein S6 kinase, 90kDa, polypeptide 35 axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|magnesium ion binding|protein serine/threonine kinase activity ovary(2)|lung(2)|skin(2)|large_intestine(1)|central_nervous_system(1) 8 Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105) OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05) ACGACGCCTTCTTCCTGCAAG 0.557 13 59 --- --- --- --- PASS TCP10 6953 broad.mit.edu 37 6 167791471 167791471 + Missense_Mutation SNP C A A TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr6:167791471C>A uc003qvv.1 - 4 601 c.389G>T c.(388-390)TGG>TTG p.W130L TCP10_uc003qvu.2_Missense_Mutation_p.W130L|TCP10_uc003qvw.2_Missense_Mutation_p.W106L NM_004610 NP_004601 Q12799 TCP10_HUMAN t-complex 10 157 cytosol breast(1) 1 Breast(66;1.53e-05)|Ovarian(120;0.024) OV - Ovarian serous cystadenocarcinoma(33;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)|GBM - Glioblastoma multiforme(31;0.0386) GTTAGATGACCATCTTTGTCC 0.493 18 71 --- --- --- --- PASS MLLT4 4301 broad.mit.edu 37 6 168352705 168352705 + Missense_Mutation SNP C G G TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr6:168352705C>G uc003qwd.2 + 29 4789 c.4647C>G c.(4645-4647)AGC>AGG p.S1549R MLLT4_uc003qwb.1_Missense_Mutation_p.S1534R|MLLT4_uc003qwc.1_Missense_Mutation_p.S1550R|MLLT4_uc003qwg.1_Missense_Mutation_p.S859R NM_001040001 NP_001035090 P55196 AFAD_HUMAN myeloid/lymphoid or mixed-lineage leukemia 1550 Potential. adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction adherens junction|cell-cell junction|cytosol|nucleus protein C-terminus binding ovary(2)|lung(1)|kidney(1)|central_nervous_system(1) 5 Breast(66;1.07e-05)|Ovarian(120;0.024) Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117) CGGACCGCAGCGCCGAGGAGA 0.498 T MLL AL 5 19 --- --- --- --- PASS DNAH11 8701 broad.mit.edu 37 7 21630856 21630856 + Silent SNP G T T TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr7:21630856G>T uc003svc.2 + 14 2359 c.2328G>T c.(2326-2328)ACG>ACT p.T776T NM_003777 NP_003768 Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 776 Stem (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 TCAAACAGACGCTCCTGGAAG 0.448 Kartagener_syndrome 10 17 --- --- --- --- PASS DNAH11 8701 broad.mit.edu 37 7 21775367 21775367 + Missense_Mutation SNP C A A TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr7:21775367C>A uc003svc.2 + 47 7602 c.7571C>A c.(7570-7572)ACA>AAA p.T2524K NM_003777 NP_003768 Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 2524 AAA 3 (By similarity).|ATP (Potential). 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 GTGGGAAAAACAGTCTTTGTA 0.433 Kartagener_syndrome 18 34 --- --- --- --- PASS FAM188B 84182 broad.mit.edu 37 7 30915170 30915170 + Nonsense_Mutation SNP G T T TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr7:30915170G>T uc003tbt.2 + 15 1947 c.1870G>T c.(1870-1872)GAG>TAG p.E624* FAM188B_uc010kwe.2_Nonsense_Mutation_p.E595*|AQP1_uc011kac.1_5'UTR|FAM188B_uc003tbu.2_Nonsense_Mutation_p.E144* NM_032222 NP_115598 Q4G0A6 F188B_HUMAN hypothetical protein LOC84182 624 0 CGATGTGGTTGAGCTGGATTC 0.468 56 89 --- --- --- --- PASS RALA 5898 broad.mit.edu 37 7 39730117 39730117 + Missense_Mutation SNP G A A TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr7:39730117G>A uc003thd.2 + 3 551 c.251G>A c.(250-252)CGA>CAA p.R84Q NM_005402 NP_005393 P11233 RALA_HUMAN ras related v-ral simian leukemia viral oncogene 84 actin cytoskeleton reorganization|cell cycle|chemotaxis|cytokinesis|exocytosis|interspecies interaction between organisms|membrane raft localization|nerve growth factor receptor signaling pathway|positive regulation of filopodium assembly|Ras protein signal transduction|regulation of exocytosis cell surface|cleavage furrow|cytosol|midbody|plasma membrane Edg-2 lysophosphatidic acid receptor binding|GTP binding|GTPase activity lung(1)|skin(1) 2 AACTACTTCCGAAGTGGGGAG 0.463 18 35 --- --- --- --- PASS C7orf10 79783 broad.mit.edu 37 7 40899991 40899991 + Silent SNP C T T TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr7:40899991C>T uc003thn.1 + 14 1275 c.1230C>T c.(1228-1230)CAC>CAT p.H410H C7orf10_uc003thm.1_Silent_p.H406H|C7orf10_uc003tho.1_Silent_p.H362H|C7orf10_uc003thp.1_RNA NM_024728 NP_079004 Q9HAC7 CG010_HUMAN dermal papilla derived protein 13 417 transferase activity ovary(2) 2 ACACAACGCACATCCTGAAGG 0.577 14 48 --- --- --- --- PASS SUN3 256979 broad.mit.edu 37 7 48026964 48026964 + Missense_Mutation SNP C A A TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr7:48026964C>A uc003tof.2 - 11 1134 c.1037G>T c.(1036-1038)CGA>CTA p.R346L SUN3_uc010kyq.2_Missense_Mutation_p.R258L|SUN3_uc003tog.2_Missense_Mutation_p.R346L|SUN3_uc011kcf.1_Missense_Mutation_p.R334L NM_152782 NP_689995 Q8TAQ9 SUN3_HUMAN Sad1 and UNC84 domain containing 1 346 SUN. integral to membrane central_nervous_system(1) 1 GACCCTGAATCGATATAAACA 0.383 4 76 --- --- --- --- PASS SRCRB4D 136853 broad.mit.edu 37 7 76033672 76033672 + Missense_Mutation SNP G C C TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr7:76033672G>C uc003ufb.2 - 2 433 c.85C>G c.(85-87)CCT>GCT p.P29A ZP3_uc003ufc.3_Intron NM_080744 NP_542782 Q8WTU2 SRB4D_HUMAN scavenger receptor cysteine rich domain 29 extracellular region|membrane scavenger receptor activity pancreas(1) 1 AGGAAGGGAGGGGCAGCACTC 0.507 3 20 --- --- --- --- PASS HGF 3082 broad.mit.edu 37 7 81331913 81331913 + Missense_Mutation SNP T A A TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr7:81331913T>A uc003uhl.2 - 18 2336 c.2171A>T c.(2170-2172)AAG>ATG p.K724M HGF_uc003uhm.2_Missense_Mutation_p.K719M NM_000601 NP_000592 P14210 HGF_HUMAN hepatocyte growth factor isoform 1 724 epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling platelet alpha granule lumen growth factor activity|serine-type endopeptidase activity ovary(2)|central_nervous_system(2) 4 CTGTGGTACCTTATATGTTAA 0.368 35 27 --- --- --- --- PASS C7orf63 79846 broad.mit.edu 37 7 89874839 89874839 + Missense_Mutation SNP C A A TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr7:89874839C>A uc010lep.2 + 1 352 c.101C>A c.(100-102)ACG>AAG p.T34K C7orf63_uc003ukf.2_RNA|C7orf63_uc003ukg.2_5'UTR|C7orf63_uc011khj.1_Missense_Mutation_p.T34K|C7orf63_uc010leo.2_Missense_Mutation_p.T34K NM_001039706 NP_001034795 A5D8W1 CG063_HUMAN hypothetical protein LOC79846 isoform 1 34 binding ovary(1) 1 GGGGTGGTGACGGAGGACGAT 0.622 61 65 --- --- --- --- PASS CDK14 5218 broad.mit.edu 37 7 90419888 90419888 + Silent SNP G A A TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr7:90419888G>A uc003uky.2 + 5 687 c.465G>A c.(463-465)AAG>AAA p.K155K CDK14_uc003ukt.1_Silent_p.K109K|CDK14_uc003ukv.1_Silent_p.K109K|CDK14_uc003uku.1_Silent_p.K109K|CDK14_uc003ukx.1_RNA|CDK14_uc003ukz.1_Silent_p.K137K|CDK14_uc010les.1_Silent_p.K109K|CDK14_uc011khl.1_Silent_p.R26R NM_012395 NP_036527 O94921 CDK14_HUMAN PFTAIRE protein kinase 1 155 Protein kinase. cell division|G2/M transition of mitotic cell cycle|regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway cytoplasmic cyclin-dependent protein kinase holoenzyme complex|nucleus|plasma membrane ATP binding|cyclin binding|cyclin-dependent protein kinase activity lung(3)|ovary(1) 4 TTTCTCACAGGGTAAATGGGA 0.358 14 20 --- --- --- --- PASS HEPACAM2 253012 broad.mit.edu 37 7 92848755 92848755 + Nonsense_Mutation SNP G T T TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr7:92848755G>T uc003umm.2 - 2 112 c.89C>A c.(88-90)TCG>TAG p.S30* HEPACAM2_uc003uml.2_Nonsense_Mutation_p.S18*|HEPACAM2_uc010lff.2_Nonsense_Mutation_p.S18*|HEPACAM2_uc011khy.1_Nonsense_Mutation_p.S53* NM_001039372 NP_001034461 A8MVW5 HECA2_HUMAN HEPACAM family member 2 isoform 1 30 integral to membrane ovary(3)|breast(1)|kidney(1) 5 CTTCAGCCCCGAGCAAGCACC 0.517 5 114 --- --- --- --- PASS COL1A2 1278 broad.mit.edu 37 7 94058503 94058503 + Nonsense_Mutation SNP G T T TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr7:94058503G>T uc003ung.1 + 51 4186 c.3715G>T c.(3715-3717)GAA>TAA p.E1239* COL1A2_uc011kib.1_Intron NM_000089 NP_000080 P08123 CO1A2_HUMAN alpha 2 type I collagen precursor 1239 Fibrillar collagen NC1. axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway collagen type I|extracellular space|plasma membrane extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging COL1A2/PLAG1(3) soft_tissue(3)|central_nervous_system(3)|ovary(2)|skin(1) 9 all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08) STAD - Stomach adenocarcinoma(171;0.0031) Collagenase(DB00048) TCTGTAGTTTGAATATAATGT 0.383 HNSCC(75;0.22) 17 21 --- --- --- --- PASS TRRAP 8295 broad.mit.edu 37 7 98601940 98601940 + Nonsense_Mutation SNP C A A TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr7:98601940C>A uc003upp.2 + 67 10604 c.10395C>A c.(10393-10395)TGC>TGA p.C3465* TRRAP_uc011kis.1_Nonsense_Mutation_p.C3436*|TRRAP_uc003upr.2_Nonsense_Mutation_p.C3171* NM_003496 NP_003487 Q9Y4A5 TRRAP_HUMAN transformation/transcription domain-associated 3465 histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity ovary(9)|large_intestine(8)|central_nervous_system(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(1)|lung(1)|liver(1) 37 all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274) STAD - Stomach adenocarcinoma(171;0.215) AGGAAAAGTGCCGGTTCTTGA 0.428 5 161 --- --- --- --- PASS C7orf51 222950 broad.mit.edu 37 7 100086350 100086350 + Missense_Mutation SNP C A A TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr7:100086350C>A uc003uvd.1 + 4 1165 c.1006C>A c.(1006-1008)CCA>ACA p.P336T C7orf51_uc003uve.1_Missense_Mutation_p.P118T NM_173564 NP_775835 Q6ZVC0 CG051_HUMAN hypothetical protein FLJ37538 336 Pro-rich. skin(1) 1 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) GCACCGGCCTCCACTCCTGGC 0.667 27 18 --- --- --- --- PASS ACHE 43 broad.mit.edu 37 7 100490928 100490928 + Missense_Mutation SNP G C C TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr7:100490928G>C uc003uxd.2 - 1 1082 c.926C>G c.(925-927)GCG>GGG p.A309G ACHE_uc003uxe.2_Missense_Mutation_p.A309G|ACHE_uc003uxf.2_Missense_Mutation_p.A309G|ACHE_uc003uxg.2_Missense_Mutation_p.A309G|ACHE_uc003uxh.2_Missense_Mutation_p.A309G|ACHE_uc003uxi.2_Missense_Mutation_p.A309G|ACHE_uc003uxj.1_Missense_Mutation_p.A428G NM_000665 NP_000656 P22303 ACES_HUMAN acetylcholinesterase isoform E4-E6 precursor 309 acetylcholine catabolic process in synaptic cleft|amyloid precursor protein metabolic process|cell adhesion|cell proliferation|choline metabolic process|DNA replication|muscle organ development|neurotransmitter biosynthetic process|osteoblast development|positive regulation of protein secretion|regulation of axonogenesis|regulation of dendrite morphogenesis|response to wounding|synapse assembly anchored to membrane|axon|basal lamina|cell junction|cell surface|dendrite|endoplasmic reticulum lumen|extracellular space|Golgi apparatus|neuromuscular junction|nucleus|perinuclear region of cytoplasm|postsynaptic membrane|presynaptic membrane|synaptic cleft acetylcholine binding|acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|collagen binding|laminin-1 binding|protein homodimerization activity|serine hydrolase activity skin(2) 2 Lung NSC(181;0.041)|all_lung(186;0.0581) Ambenonium(DB01122)|Atropine(DB00572)|Choline(DB00122)|Decamethonium(DB01245)|Demecarium bromide(DB00944)|Donepezil(DB00843)|Edrophonium(DB01010)|Ephedrine(DB01364)|Galantamine(DB00674)|Gallamine Triethiodide(DB00483)|Isoflurophate(DB00677)|Neostigmine(DB01400)|Physostigmine(DB00981)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Tacrine(DB00382)|Tubocurarine(DB01199) CAGGACCTGCGCTGGTCGTGT 0.622 11 9 --- --- --- --- PASS PSMC2 5701 broad.mit.edu 37 7 103004624 103004624 + Missense_Mutation SNP C A A TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr7:103004624C>A uc003vbs.2 + 8 696 c.626C>A c.(625-627)CCC>CAC p.P209H SLC26A5_uc003vbt.1_Intron|SLC26A5_uc003vbu.1_Intron|SLC26A5_uc003vbv.1_Intron|PSMC2_uc011klo.1_Missense_Mutation_p.P72H NM_002803 NP_002794 P35998 PRS7_HUMAN proteasome 26S ATPase subunit 2 209 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction mitochondrion|nucleus|proteasome complex ATP binding|ATPase activity|protein binding 0 ATTGAGCCTCCCAAGGGCGTG 0.478 5 43 --- --- --- --- PASS SLC13A1 6561 broad.mit.edu 37 7 122774567 122774567 + Missense_Mutation SNP G T T TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr7:122774567G>T uc003vkm.2 - 8 854 c.829C>A c.(829-831)CGT>AGT p.R277S SLC13A1_uc010lks.2_Missense_Mutation_p.R153S NM_022444 NP_071889 Q9BZW2 S13A1_HUMAN solute carrier family 13 (sodium/sulfate 277 integral to membrane|plasma membrane sodium:sulfate symporter activity ovary(2) 2 Succinic acid(DB00139) TTGAGGCAACGACAGTCAGGA 0.483 39 23 --- --- --- --- PASS PLXNA4 91584 broad.mit.edu 37 7 131817907 131817907 + Silent SNP G A A TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr7:131817907G>A uc003vra.3 - 31 5719 c.5490C>T c.(5488-5490)AAC>AAT p.N1830N PLXNA4_uc003vqz.3_Silent_p.N115N NM_020911 NP_065962 Q9HCM2 PLXA4_HUMAN plexin A4 isoform 1 1830 Cytoplasmic (Potential). integral to membrane|intracellular|plasma membrane ovary(1) 1 CCAGGTATGCGTTCATGTCTT 0.507 28 56 --- --- --- --- PASS KIAA1549 57670 broad.mit.edu 37 7 138591710 138591710 + Nonsense_Mutation SNP C A A TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr7:138591710C>A uc011kql.1 - 6 3464 c.3415G>T c.(3415-3417)GAG>TAG p.E1139* KIAA1549_uc003vuk.3_Nonsense_Mutation_p.E1089*|KIAA1549_uc011kqj.1_Nonsense_Mutation_p.E1139* NM_020910 NP_065961 Q9HCM3 K1549_HUMAN hypothetical protein LOC57670 isoform 1 1139 integral to membrane KIAA1549/BRAF(229) central_nervous_system(229)|pancreas(1) 230 AAACTGAACTCCACCACACTC 0.537 O BRAF pilocytic astrocytoma 46 56 --- --- --- --- PASS MGAM 8972 broad.mit.edu 37 7 141722156 141722156 + Nonsense_Mutation SNP G T T TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr7:141722156G>T uc003vwy.2 + 7 853 c.799G>T c.(799-801)GGA>TGA p.G267* NM_004668 NP_004659 O43451 MGA_HUMAN maltase-glucoamylase 267 Lumenal (Potential).|Maltase. polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity ovary(2) 2 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) GTATGGCCTGGGAGAGCATGT 0.502 66 75 --- --- --- --- PASS EPHB6 2051 broad.mit.edu 37 7 142562440 142562440 + Silent SNP A T T TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr7:142562440A>T uc011kst.1 + 7 1669 c.882A>T c.(880-882)GTA>GTT p.V294V EPHB6_uc011ksu.1_Silent_p.V294V|EPHB6_uc003wbs.2_Silent_p.V2V|EPHB6_uc003wbt.2_5'UTR|EPHB6_uc003wbu.2_Silent_p.V2V|EPHB6_uc003wbv.2_5'Flank NM_004445 NP_004436 O15197 EPHB6_HUMAN ephrin receptor EphB6 precursor 294 Extracellular (Potential).|Cys-rich. extracellular region|integral to plasma membrane ATP binding|ephrin receptor activity lung(8)|large_intestine(4)|central_nervous_system(3)|stomach(1)|skin(1)|ovary(1)|pancreas(1) 19 Melanoma(164;0.059) AGTGGATGGTAGCTGTCGGGG 0.657 9 11 --- --- --- --- PASS TRPV5 56302 broad.mit.edu 37 7 142609900 142609900 + Missense_Mutation SNP G T T TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr7:142609900G>T uc003wby.1 - 13 1800 c.1536C>A c.(1534-1536)TTC>TTA p.F512L NM_019841 NP_062815 Q9NQA5 TRPV5_HUMAN transient receptor potential cation channel, 512 Helical; (Potential). protein tetramerization apical plasma membrane|integral to plasma membrane calcium channel activity ovary(3)|central_nervous_system(2)|skin(1) 6 Melanoma(164;0.059) CCTCTGTCTGGAAAATGATAT 0.463 9 83 --- --- --- --- PASS OR2A7 401427 broad.mit.edu 37 7 143956017 143956017 + Missense_Mutation SNP T A A TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr7:143956017T>A uc011kuc.1 - 1 705 c.705A>T c.(703-705)AAA>AAT p.K235N OR2A9P_uc003wec.1_Intron|uc003wed.2_5'Flank NM_001005328 NP_001005328 Q96R45 OR2A7_HUMAN olfactory receptor, family 2, subfamily A, 235 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 Melanoma(164;0.14) TGCAGAAGGCTTTCCTCTGAA 0.478 8 81 --- --- --- --- PASS ZNF746 155061 broad.mit.edu 37 7 149191124 149191124 + Missense_Mutation SNP T C C TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr7:149191124T>C uc003wfw.2 - 3 633 c.362A>G c.(361-363)TAC>TGC p.Y121C ZNF746_uc010lpi.2_Missense_Mutation_p.Y121C NM_152557 NP_689770 Q6NUN9 ZN746_HUMAN zinc finger protein 746 isoform 2 121 KRAB. negative regulation of transcription, DNA-dependent|neuron death|regulation of cell death|transcription, DNA-dependent cytoplasm|nucleus transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding ovary(2)|breast(1) 3 Melanoma(164;0.165) OV - Ovarian serous cystadenocarcinoma(82;0.00358) CACGTGCTTGTAGAGCTCCTT 0.532 7 130 --- --- --- --- PASS SSPO 23145 broad.mit.edu 37 7 149478003 149478003 + Silent SNP C T T TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr7:149478003C>T uc010lpk.2 + 13 1774 c.1774C>T c.(1774-1776)CTG>TTG p.L592L SSPO_uc010lpl.1_Intron NM_198455 NP_940857 A2VEC9 SSPO_HUMAN SCO-spondin precursor 592 VWFD 2. cell adhesion extracellular space peptidase inhibitor activity 0 Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) CCGCTACAGCCTGGTGCAGGT 0.642 15 7 --- --- --- --- PASS GBX1 2636 broad.mit.edu 37 7 150846205 150846205 + Missense_Mutation SNP T C C TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr7:150846205T>C uc011kvg.1 - 2 795 c.563A>G c.(562-564)GAT>GGT p.D188G NM_001098834 NP_001092304 Q14549 GBX1_HUMAN gastrulation brain homeo box 1 188 nuclear chromosome sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 OV - Ovarian serous cystadenocarcinoma(82;0.00989) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) CTTCTCCTCATCTGAGCTGTA 0.572 55 181 --- --- --- --- PASS ASB10 136371 broad.mit.edu 37 7 150883938 150883938 + Silent SNP G T T TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr7:150883938G>T uc003wjm.1 - 1 541 c.415C>A c.(415-417)CGA>AGA p.R139R ASB10_uc003wjl.1_Silent_p.R139R|ASB10_uc003wjn.1_Intron NM_001142459 NP_001135931 Q8WXI3 ASB10_HUMAN ankyrin repeat and SOCS box-containing 10 94 intracellular signal transduction 0 OV - Ovarian serous cystadenocarcinoma(82;0.00448) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) TCCCTCCATCGCTCTGGGTCG 0.642 10 8 --- --- --- --- PASS ASB10 136371 broad.mit.edu 37 7 150884185 150884185 + Missense_Mutation SNP C G G TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr7:150884185C>G uc003wjm.1 - 1 294 c.168G>C c.(166-168)AAG>AAC p.K56N ASB10_uc003wjl.1_Missense_Mutation_p.K56N|ASB10_uc003wjn.1_Intron NM_001142459 NP_001135931 Q8WXI3 ASB10_HUMAN ankyrin repeat and SOCS box-containing 10 11 intracellular signal transduction 0 OV - Ovarian serous cystadenocarcinoma(82;0.00448) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) CTCCCTGCCCCTTGCACTCTT 0.562 4 1 --- --- --- --- PASS GALNT11 63917 broad.mit.edu 37 7 151791434 151791434 + Missense_Mutation SNP C T T TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr7:151791434C>T uc010lqg.1 + 2 352 c.122C>T c.(121-123)CCC>CTC p.P41L GALNT11_uc011kvm.1_Intron|GALNT11_uc003wku.2_Missense_Mutation_p.P41L|GALNT11_uc003wkv.1_Missense_Mutation_p.P41L|GALNT11_uc011kvn.1_RNA NM_022087 NP_071370 Q8NCW6 GLT11_HUMAN N-acetylgalactosaminyltransferase 11 41 Lumenal (Potential). Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding 0 all_neural(206;0.187) all_hematologic(28;0.0592)|Prostate(32;0.214) OV - Ovarian serous cystadenocarcinoma(82;0.00168) UCEC - Uterine corpus endometrioid carcinoma (81;0.177)|BRCA - Breast invasive adenocarcinoma(188;0.0932) AAGAATGTGCCCGTCAAGGGG 0.473 6 106 --- --- --- --- PASS MLL3 58508 broad.mit.edu 37 7 151851428 151851428 + Silent SNP C A A TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr7:151851428C>A uc003wla.2 - 47 12282 c.12063G>T c.(12061-12063)CTG>CTT p.L4021L MLL3_uc003wkz.2_Silent_p.L3139L|MLL3_uc003wkx.2_Silent_p.L179L|MLL3_uc003wky.2_Silent_p.L1585L NM_170606 NP_733751 Q8NEZ4 MLL3_HUMAN myeloid/lymphoid or mixed-lineage leukemia 3 4021 intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent DNA binding|protein binding|zinc ion binding large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1) 63 all_neural(206;0.187) all_hematologic(28;0.0592)|Prostate(32;0.0906) OV - Ovarian serous cystadenocarcinoma(82;0.00715) UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462) TGACCAATGACAGATCTGGAT 0.488 N medulloblastoma 34 82 --- --- --- --- PASS MLL3 58508 broad.mit.edu 37 7 151962250 151962250 + Missense_Mutation SNP G A A TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr7:151962250G>A uc003wla.2 - 8 1276 c.1057C>T c.(1057-1059)CTC>TTC p.L353F NM_170606 NP_733751 Q8NEZ4 MLL3_HUMAN myeloid/lymphoid or mixed-lineage leukemia 3 353 PHD-type 1.|RING-type. intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent DNA binding|protein binding|zinc ion binding large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1) 63 all_neural(206;0.187) all_hematologic(28;0.0592)|Prostate(32;0.0906) OV - Ovarian serous cystadenocarcinoma(82;0.00715) UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462) TGATCTAAGAGGTCTCCCGGG 0.403 N medulloblastoma 8 202 --- --- --- --- PASS ARHGEF10 9639 broad.mit.edu 37 8 1851599 1851599 + Missense_Mutation SNP C A A TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr8:1851599C>A uc003wpr.2 + 16 1981 c.1803C>A c.(1801-1803)AAC>AAA p.N601K ARHGEF10_uc003wpq.1_Missense_Mutation_p.N625K|ARHGEF10_uc003wps.2_Missense_Mutation_p.N563K|ARHGEF10_uc003wpt.2_Missense_Mutation_p.N477K|ARHGEF10_uc003wpv.2_Missense_Mutation_p.N334K|ARHGEF10_uc010lre.2_Missense_Mutation_p.N281K NM_014629 NP_055444 O15013 ARHGA_HUMAN Rho guanine nucleotide exchange factor 10 626 centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis centrosome|cytosol|soluble fraction kinesin binding|Rho guanyl-nucleotide exchange factor activity large_intestine(1) 1 Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834) COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718) AAGCCATAAACGAAAGATACC 0.393 13 47 --- --- --- --- PASS CSMD1 64478 broad.mit.edu 37 8 2796240 2796240 + Missense_Mutation SNP C T T TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr8:2796240C>T uc011kwk.1 - 70 10955 c.10565G>A c.(10564-10566)GGC>GAC p.G3522D CSMD1_uc011kwj.1_Missense_Mutation_p.G2836D|CSMD1_uc010lrg.2_Missense_Mutation_p.G1413D NM_033225 NP_150094 Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 precursor 3522 Cytoplasmic (Potential). integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) CCCAGCATAGCCATTGTATTG 0.418 7 17 --- --- --- --- PASS CSMD1 64478 broad.mit.edu 37 8 2965277 2965277 + Missense_Mutation SNP C A A TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr8:2965277C>A uc011kwk.1 - 45 7191 c.6801G>T c.(6799-6801)CAG>CAT p.Q2267H CSMD1_uc011kwj.1_Missense_Mutation_p.Q1659H|CSMD1_uc010lrg.2_Missense_Mutation_p.Q335H NM_033225 NP_150094 Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 precursor 2267 Extracellular (Potential).|Sushi 13. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) GCATTTCTGCCTGTGGAACCG 0.358 8 53 --- --- --- --- PASS BLK 640 broad.mit.edu 37 8 11403590 11403590 + Silent SNP G T T TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr8:11403590G>T uc003wty.2 + 3 734 c.153G>T c.(151-153)CCG>CCT p.P51P BLK_uc003wtz.2_5'UTR NM_001715 NP_001706 P51451 BLK_HUMAN B lymphoid tyrosine kinase 51 intracellular protein kinase cascade|positive regulation of insulin secretion ATP binding|non-membrane spanning protein tyrosine kinase activity large_intestine(1)|stomach(1)|ovary(1) 3 STAD - Stomach adenocarcinoma(15;0.00391) COAD - Colon adenocarcinoma(149;0.207) CTCCTCCACCGCCCGATGAAC 0.547 18 117 --- --- --- --- PASS PCM1 5108 broad.mit.edu 37 8 17822100 17822100 + Missense_Mutation SNP C G G TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr8:17822100C>G uc003wyi.3 + 18 3100 c.2678C>G c.(2677-2679)TCT>TGT p.S893C PCM1_uc011kyh.1_Missense_Mutation_p.S893C|PCM1_uc003wyj.3_Missense_Mutation_p.S894C NM_006197 NP_006188 Q15154 PCM1_HUMAN pericentriolar material 1 893 centrosome organization|cilium assembly|G2/M transition of mitotic cell cycle|interkinetic nuclear migration|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome centriolar satellite|cytosol|nuclear membrane|pericentriolar material identical protein binding PCM1/JAK2(30) haematopoietic_and_lymphoid_tissue(30)|breast(4)|ovary(2) 36 Colorectal(111;0.0789) TGGGGAGGGTCTACCCAGTGT 0.393 T RET|JAK2 papillary thyroid|CML|MPD 5 41 --- --- --- --- PASS INTS10 55174 broad.mit.edu 37 8 19700393 19700393 + Missense_Mutation SNP G T T TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr8:19700393G>T uc003wzj.2 + 14 1805 c.1674G>T c.(1672-1674)AAG>AAT p.K558N NM_018142 NP_060612 Q9NVR2 INT10_HUMAN integrator complex subunit 10 558 snRNA processing integrator complex protein binding ovary(1) 1 Colorectal(111;0.057)|COAD - Colon adenocarcinoma(73;0.215) GTACCAGCAAGGCTATCATGC 0.348 20 53 --- --- --- --- PASS DOCK5 80005 broad.mit.edu 37 8 25258515 25258515 + Missense_Mutation SNP A T T TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr8:25258515A>T uc003xeg.2 + 47 4996 c.4859A>T c.(4858-4860)GAG>GTG p.E1620V PPP2R2A_uc003xek.2_Intron|DOCK5_uc003xej.2_RNA NM_024940 NP_079216 Q9H7D0 DOCK5_HUMAN dedicator of cytokinesis 5 1620 DHR-2. cytoplasm GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity ovary(3) 3 all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143) UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828) CCGCTGCATGAGCGGTTGTCT 0.483 13 104 --- --- --- --- PASS TEX15 56154 broad.mit.edu 37 8 30700808 30700808 + Nonsense_Mutation SNP G C C TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr8:30700808G>C uc003xil.2 - 1 5726 c.5726C>G c.(5725-5727)TCA>TGA p.S1909* NM_031271 NP_112561 Q9BXT5 TEX15_HUMAN testis expressed 15 1909 ovary(3)|upper_aerodigestive_tract(2)|skin(2) 7 KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111) CTTCTTTTGTGAGTATTTTTT 0.323 10 46 --- --- --- --- PASS CHD7 55636 broad.mit.edu 37 8 61693855 61693855 + Missense_Mutation SNP G T T TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr8:61693855G>T uc003xue.2 + 3 2439 c.1962G>T c.(1960-1962)AAG>AAT p.K654N NM_017780 NP_060250 Q9P2D1 CHD7_HUMAN chromodomain helicase DNA binding protein 7 654 Lys-rich. central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent nucleus ATP binding|chromatin binding|DNA binding|helicase activity p.556_871dup(1) ovary(4)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|pancreas(1) 9 all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477) BRCA - Breast invasive adenocarcinoma(89;0.143) AAGACCCGAAGGAACCGAAAG 0.438 8 20 --- --- --- --- PASS C8orf34 116328 broad.mit.edu 37 8 69688635 69688635 + Missense_Mutation SNP G T T TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr8:69688635G>T uc010lyz.2 + 11 1197 c.1148G>T c.(1147-1149)GGA>GTA p.G383V C8orf34_uc003xyb.2_Missense_Mutation_p.G358V NM_052958 NP_443190 Q49A92 CH034_HUMAN hypothetical protein LOC116328 383 signal transduction cAMP-dependent protein kinase regulator activity large_intestine(1) 1 Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502) TACTTCTAGGGAGAAGCCTCC 0.398 9 50 --- --- --- --- PASS ZFHX4 79776 broad.mit.edu 37 8 77765818 77765818 + Missense_Mutation SNP G C C TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr8:77765818G>C uc003yav.2 + 10 6913 c.6526G>C c.(6526-6528)GAT>CAT p.D2176H ZFHX4_uc003yau.1_Missense_Mutation_p.D2221H|ZFHX4_uc003yaw.1_Missense_Mutation_p.D2176H NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN zinc finger homeodomain 4 2176 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(8)|large_intestine(4)|breast(2)|lung(1) 15 BRCA - Breast invasive adenocarcinoma(89;0.0895) TTACAAATCTGATGCATCATT 0.373 HNSCC(33;0.089) 14 47 --- --- --- --- PASS ZNF704 619279 broad.mit.edu 37 8 81555340 81555340 + Missense_Mutation SNP C A A TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr8:81555340C>A uc003yby.1 - 8 1289 c.1057G>T c.(1057-1059)GGC>TGC p.G353C NM_001033723 NP_001028895 Q6ZNC4 ZN704_HUMAN zinc finger protein 704 353 intracellular zinc ion binding 0 all_cancers(3;8.53e-08)|all_epithelial(4;4.59e-10)|Breast(3;2.56e-06)|Lung NSC(7;2.58e-06)|all_lung(9;9.4e-06) BRCA - Breast invasive adenocarcinoma(6;0.00401)|Epithelial(68;0.00448)|all cancers(69;0.0277) TCTCCTGTGCCCACCGGATGA 0.527 5 22 --- --- --- --- PASS WWP1 11059 broad.mit.edu 37 8 87423938 87423938 + Missense_Mutation SNP C G G TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr8:87423938C>G uc003ydt.2 + 9 1176 c.896C>G c.(895-897)ACC>AGC p.T299S WWP1_uc010mai.2_Missense_Mutation_p.T75S NM_007013 NP_008944 Q9H0M0 WWP1_HUMAN WW domain containing E3 ubiquitin protein ligase 299 central nervous system development|entry of virus into host cell|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|signal transduction cytoplasm|nucleus|plasma membrane|ubiquitin ligase complex protein binding|ubiquitin-protein ligase activity lung(1)|liver(1) 2 ATTCCTTCTACCAGTGCAGAA 0.393 13 28 --- --- --- --- PASS DCAF4L2 138009 broad.mit.edu 37 8 88885776 88885776 + Missense_Mutation SNP G A A TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr8:88885776G>A uc003ydz.2 - 1 521 c.424C>T c.(424-426)CTT>TTT p.L142F NM_152418 NP_689631 Q8NA75 DC4L2_HUMAN WD repeat domain 21C 142 ovary(1) 1 CACAGCAGAAGGTGGGAATCC 0.567 4 50 --- --- --- --- PASS SLC26A7 115111 broad.mit.edu 37 8 92378817 92378817 + Missense_Mutation SNP C A A TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr8:92378817C>A uc003yex.2 + 15 1776 c.1498C>A c.(1498-1500)CAG>AAG p.Q500K SLC26A7_uc003yey.2_RNA|SLC26A7_uc003yez.2_Missense_Mutation_p.Q500K|SLC26A7_uc003yfa.2_Missense_Mutation_p.Q500K NM_052832 NP_439897 Q8TE54 S26A7_HUMAN solute carrier family 26, member 7 isoform a 500 STAS.|Cytoplasmic (Potential). basolateral plasma membrane|integral to membrane|recycling endosome membrane anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity ovary(2) 2 BRCA - Breast invasive adenocarcinoma(11;0.00802) GGAAACCCTGCAGCAGGTGAA 0.318 9 17 --- --- --- --- PASS UBR5 51366 broad.mit.edu 37 8 103284843 103284843 + Missense_Mutation SNP T C C TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr8:103284843T>C uc003ykr.1 - 48 6920 c.6887A>G c.(6886-6888)TAT>TGT p.Y2296C UBR5_uc003yks.1_Missense_Mutation_p.Y2296C NM_015902 NP_056986 O95071 UBR5_HUMAN ubiquitin protein ligase E3 component n-recognin 2296 cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus nucleus|soluble fraction protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding lung(16)|ovary(4)|large_intestine(3)|breast(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1) 28 all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05) OV - Ovarian serous cystadenocarcinoma(57;0.000442) AATGGCTGTATAAAAACTTCG 0.408 17 35 --- --- --- --- PASS CSMD3 114788 broad.mit.edu 37 8 113569084 113569084 + Missense_Mutation SNP C A A TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr8:113569084C>A uc003ynu.2 - 25 4301 c.4142G>T c.(4141-4143)TGC>TTC p.C1381F CSMD3_uc003yns.2_Missense_Mutation_p.C653F|CSMD3_uc003ynt.2_Missense_Mutation_p.C1341F|CSMD3_uc011lhx.1_Missense_Mutation_p.C1277F NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 1381 Extracellular (Potential).|Sushi 7. 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 GCCTGGATTGCATCCATAAAT 0.483 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 8 43 --- --- --- --- PASS CSMD3 114788 broad.mit.edu 37 8 113697808 113697808 + Missense_Mutation SNP G C C TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr8:113697808G>C uc003ynu.2 - 15 2468 c.2309C>G c.(2308-2310)TCC>TGC p.S770C CSMD3_uc003yns.2_Missense_Mutation_p.S42C|CSMD3_uc003ynt.2_Missense_Mutation_p.S730C|CSMD3_uc011lhx.1_Missense_Mutation_p.S666C NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 770 Extracellular (Potential).|CUB 4. 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 ATCAAACTGGGATTCCAGGTC 0.428 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 13 58 --- --- --- --- PASS CSMD3 114788 broad.mit.edu 37 8 114290852 114290852 + Silent SNP A G G TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr8:114290852A>G uc003ynu.2 - 3 642 c.483T>C c.(481-483)GTT>GTC p.V161V CSMD3_uc003ynt.2_Silent_p.V121V|CSMD3_uc011lhx.1_Silent_p.V161V|CSMD3_uc010mcx.1_Silent_p.V161V NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 161 Extracellular (Potential).|CUB 1. 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 CATGAGCACTAACTGCAAAAT 0.373 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 15 26 --- --- --- --- PASS PHF20L1 51105 broad.mit.edu 37 8 133856422 133856422 + Missense_Mutation SNP G A A TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr8:133856422G>A uc003ytt.2 + 20 3095 c.2770G>A c.(2770-2772)GTA>ATA p.V924I PHF20L1_uc011lja.1_Missense_Mutation_p.V898I NM_016018 NP_057102 A8MW92 P20L1_HUMAN PHD finger protein 20-like 1 isoform 1 924 nucleic acid binding|zinc ion binding ovary(2) 2 all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;4.46e-05) AGGGAATACAGTATTTGTTTA 0.408 9 43 --- --- --- --- PASS WISP1 8840 broad.mit.edu 37 8 134239682 134239682 + Missense_Mutation SNP A T T TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr8:134239682A>T uc003yub.2 + 5 909 c.833A>T c.(832-834)CAG>CTG p.Q278L WISP1_uc003yuc.2_Missense_Mutation_p.Q191L|WISP1_uc010meb.2_Missense_Mutation_p.Q106L|WISP1_uc010mec.2_Silent_p.P126P|WISP1_uc010med.2_Missense_Mutation_p.Q33L|WISP1_uc003yud.2_RNA NM_003882 NP_003873 O95388 WISP1_HUMAN WNT1 inducible signaling pathway protein 1 278 CTCK. cell adhesion|cell-cell signaling|regulation of cell growth|Wnt receptor signaling pathway extracellular region|soluble fraction insulin-like growth factor binding central_nervous_system(1)|kidney(1) 2 all_epithelial(106;5.39e-23)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0107) GCTGTGTACCAGCCAGAGGCA 0.537 16 16 --- --- --- --- PASS FAM135B 51059 broad.mit.edu 37 8 139180280 139180280 + Silent SNP G A A TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr8:139180280G>A uc003yuy.2 - 12 1287 c.1116C>T c.(1114-1116)CAC>CAT p.H372H FAM135B_uc003yux.2_Silent_p.H273H|FAM135B_uc003yuz.2_RNA NM_015912 NP_056996 Q49AJ0 F135B_HUMAN hypothetical protein LOC51059 372 ovary(7)|skin(2) 9 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) ACAGCTGGCTGTGCGTCTGTA 0.592 HNSCC(54;0.14) 20 65 --- --- --- --- PASS FAM135B 51059 broad.mit.edu 37 8 139263259 139263259 + Splice_Site SNP T A A TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr8:139263259T>A uc003yuy.2 - 6 540 c.369_splice c.e6-1 p.Q123_splice FAM135B_uc003yux.2_Splice_Site_p.Q24_splice|FAM135B_uc003yuz.2_Splice_Site NM_015912 NP_056996 Q49AJ0 F135B_HUMAN hypothetical protein LOC51059 ovary(7)|skin(2) 9 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) TCCCTCAACCTAGAAGGCAAG 0.532 HNSCC(54;0.14) 6 30 --- --- --- --- PASS HEATR7A 727957 broad.mit.edu 37 8 145278049 145278049 + Silent SNP C T T TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr8:145278049C>T uc003zbk.3 + 14 1491 c.1254C>T c.(1252-1254)GCC>GCT p.A418A HEATR7A_uc011lla.1_Silent_p.A418A|HEATR7A_uc010mft.2_Silent_p.A418A NM_032450 NP_115826 Q8NDA8 HTR7A_HUMAN HEAT repeat containing 7A isoform 1 418 HEAT 4. binding 0 GCGCCATGGCCCACCACGGCT 0.642 5 7 --- --- --- --- PASS GLIS3 169792 broad.mit.edu 37 9 3898798 3898798 + Missense_Mutation SNP G T T TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr9:3898798G>T uc003zhw.1 - 6 1750 c.1556C>A c.(1555-1557)ACA>AAA p.T519K GLIS3_uc003zhx.1_Missense_Mutation_p.T674K|GLIS3_uc010mhf.1_Missense_Mutation_p.T68K|GLIS3_uc003zhv.1_RNA|GLIS3_uc003zhy.1_Missense_Mutation_p.T452K|GLIS3_uc003zhz.1_Missense_Mutation_p.T452K|C9orf70_uc003zia.2_RNA NM_152629 NP_689842 Q8NEA6 GLIS3_HUMAN GLIS family zinc finger 3 isoform b 519 negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter DNA binding|zinc ion binding ovary(1) 1 Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148) Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148) GAGGCAATCTGTGAGCAGGTC 0.597 4 27 --- --- --- --- PASS TTC39B 158219 broad.mit.edu 37 9 15192619 15192619 + Missense_Mutation SNP C A A TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr9:15192619C>A uc003zlr.1 - 9 822 c.701G>T c.(700-702)GGT>GTT p.G234V TTC39B_uc003zlq.1_Missense_Mutation_p.G203V|TTC39B_uc011lmp.1_Missense_Mutation_p.G135V|TTC39B_uc010mie.1_Missense_Mutation_p.G232V|TTC39B_uc011lmq.1_Missense_Mutation_p.G234V|TTC39B_uc011lmr.1_Missense_Mutation_p.G165V|TTC39B_uc010mif.1_Missense_Mutation_p.G234V|TTC39B_uc003zls.1_Missense_Mutation_p.G135V|TTC39B_uc010mig.1_Missense_Mutation_p.G203V|TTC39B_uc011lms.1_RNA NM_152574 NP_689787 Q5VTQ0 TT39B_HUMAN tetratricopeptide repeat domain 39B 234 binding ovary(1) 1 AAGCTTGACACCCCCTTCAAA 0.408 28 53 --- --- --- --- PASS CDKN2A 1029 broad.mit.edu 37 9 21974677 21974677 + Missense_Mutation SNP C G G TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr9:21974677C>G uc003zpk.2 - 1 362 c.150G>C c.(148-150)CAG>CAC p.Q50H MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.2_Missense_Mutation_p.Q50H|CDKN2A_uc010miu.2_RNA|CDKN2A_uc003zpl.2_Intron NM_000077 NP_000068 P42771 CD2A1_HUMAN cyclin-dependent kinase inhibitor 2A isoform 1 50 ANK 2. Q -> R (in CMM2). 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.?(25)|p.Q50*(5)|p.Q50R(1)|p.V28_V51del(1) 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) CTCTACCCACCTGGATCGGCC 0.677 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) 45 46 --- --- --- --- PASS C9orf72 203228 broad.mit.edu 37 9 27567113 27567113 + Silent SNP C T T rs138028443 TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr9:27567113C>T uc003zqq.2 - 2 103 c.6G>A c.(4-6)TCG>TCA p.S2S C9orf72_uc003zqr.1_Silent_p.S2S NM_018325 NP_060795 Q96LT7 CI072_HUMAN hypothetical protein LOC203228 isoform a 2 ovary(3)|central_nervous_system(1) 4 all_neural(11;7.57e-10) LUSC - Lung squamous cell carcinoma(38;0.0001)|Lung(218;0.00016) GGCAAAGAGTCGACATCACTG 0.403 14 21 --- --- --- --- PASS ARID3C 138715 broad.mit.edu 37 9 34623546 34623546 + Missense_Mutation SNP G T T TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr9:34623546G>T uc011lon.1 - 4 741 c.741C>A c.(739-741)GAC>GAA p.D247E NM_001017363 NP_001017363 A6NKF2 ARI3C_HUMAN AT rich interactive domain 3C (BRIGHT- like) 247 Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding ovary(1) 1 all_epithelial(49;0.102) STAD - Stomach adenocarcinoma(86;0.178) GBM - Glioblastoma multiforme(74;0.175) CCAAGGCTGGGTCCTGAGCGC 0.736 6 5 --- --- --- --- PASS RECK 8434 broad.mit.edu 37 9 36100327 36100327 + Splice_Site SNP G T T TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr9:36100327G>T uc003zyv.2 + 11 1172 c.1086_splice c.e11-1 p.R362_splice RECK_uc003zyw.2_Splice_Site_p.R234_splice|RECK_uc003zyx.2_Splice_Site NM_021111 NP_066934 O95980 RECK_HUMAN RECK protein precursor anchored to membrane|peripheral to membrane of membrane fraction|plasma membrane metalloendopeptidase inhibitor activity|serine-type endopeptidase inhibitor activity skin(2)|ovary(1) 3 LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228) TTTCTCTTTAGGCCAACAGAA 0.378 4 16 --- --- --- --- PASS CCIN 881 broad.mit.edu 37 9 36170237 36170237 + Silent SNP C A A TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr9:36170237C>A uc003zzb.3 + 1 849 c.738C>A c.(736-738)ACC>ACA p.T246T NM_005893 NP_005884 Q13939 CALI_HUMAN calicin 246 cell differentiation|multicellular organismal development|spermatogenesis cytoskeletal calyx structural constituent of cytoskeleton ovary(1)|skin(1) 2 STAD - Stomach adenocarcinoma(86;0.228) TGGAGAACACCTCATCCCATA 0.507 9 24 --- --- --- --- PASS TRPM3 80036 broad.mit.edu 37 9 73151786 73151786 + Missense_Mutation SNP A G G TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr9:73151786A>G uc004aid.2 - 25 4451 c.4207T>C c.(4207-4209)TAT>CAT p.Y1403H TRPM3_uc004ahu.2_Missense_Mutation_p.Y1245H|TRPM3_uc004ahv.2_Missense_Mutation_p.Y1205H|TRPM3_uc004ahw.2_Missense_Mutation_p.Y1275H|TRPM3_uc004ahx.2_Missense_Mutation_p.Y1262H|TRPM3_uc004ahy.2_Missense_Mutation_p.Y1265H|TRPM3_uc004ahz.2_Missense_Mutation_p.Y1252H|TRPM3_uc004aia.2_Missense_Mutation_p.Y1250H|TRPM3_uc004aib.2_Missense_Mutation_p.Y1240H|TRPM3_uc004aic.2_Intron NM_001007471 NP_001007472 Q9HCF6 TRPM3_HUMAN transient receptor potential cation channel, 1428 Cytoplasmic (Potential). integral to membrane calcium channel activity ovary(3)|pancreas(2)|central_nervous_system(2)|skin(2) 9 GCAGAGACATAGATGTCTATA 0.502 23 33 --- --- --- --- PASS TRPM6 140803 broad.mit.edu 37 9 77457212 77457212 + Missense_Mutation SNP G A A TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr9:77457212G>A uc004ajl.1 - 4 438 c.200C>T c.(199-201)TCC>TTC p.S67F TRPM6_uc004ajk.1_Missense_Mutation_p.S62F|TRPM6_uc010mpb.1_RNA|TRPM6_uc010mpc.1_Missense_Mutation_p.S67F|TRPM6_uc010mpd.1_Missense_Mutation_p.S67F|TRPM6_uc010mpe.1_Missense_Mutation_p.S67F|TRPM6_uc004ajn.1_Missense_Mutation_p.S67F NM_017662 NP_060132 Q9BX84 TRPM6_HUMAN transient receptor potential cation channel, 67 Cytoplasmic (Potential). response to toxin integral to membrane ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity lung(3)|stomach(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1) 8 GATGGTCCAGGAATAATCTAT 0.393 24 70 --- --- --- --- PASS PRUNE2 158471 broad.mit.edu 37 9 79322427 79322427 + Missense_Mutation SNP G C C TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr9:79322427G>C uc010mpk.2 - 8 4887 c.4763C>G c.(4762-4764)ACC>AGC p.T1588S NM_015225 NP_056040 Q8WUY3 PRUN2_HUMAN prune homolog 2 1588 apoptosis|G1 phase|induction of apoptosis cytoplasm metal ion binding|pyrophosphatase activity 0 GCCATCAGTGGTAATTAGTTC 0.408 16 40 --- --- --- --- PASS PRUNE2 158471 broad.mit.edu 37 9 79441626 79441626 + Missense_Mutation SNP C G G TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr9:79441626C>G uc010mpk.2 - 5 655 c.531G>C c.(529-531)ATG>ATC p.M177I PRUNE2_uc004akn.2_Missense_Mutation_p.M177I NM_015225 NP_056040 Q8WUY3 PRUN2_HUMAN prune homolog 2 177 apoptosis|G1 phase|induction of apoptosis cytoplasm metal ion binding|pyrophosphatase activity 0 ATTCCATGGTCATCCACTTGA 0.418 6 57 --- --- --- --- PASS PRUNE2 158471 broad.mit.edu 37 9 79441638 79441638 + Silent SNP A G G TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr9:79441638A>G uc010mpk.2 - 5 643 c.519T>C c.(517-519)CTT>CTC p.L173L PRUNE2_uc004akn.2_Silent_p.L173L NM_015225 NP_056040 Q8WUY3 PRUN2_HUMAN prune homolog 2 173 apoptosis|G1 phase|induction of apoptosis cytoplasm metal ion binding|pyrophosphatase activity 0 TCCACTTGAAAAGAATGCTAC 0.423 5 55 --- --- --- --- PASS PHF2 5253 broad.mit.edu 37 9 96418814 96418814 + Missense_Mutation SNP C G G TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr9:96418814C>G uc004aub.2 + 9 1231 c.1084C>G c.(1084-1086)CAG>GAG p.Q362E PHF2_uc011lug.1_Missense_Mutation_p.Q245E NM_005392 NP_005383 O75151 PHF2_HUMAN PHD finger protein 2 362 liver development|negative regulation of chromatin silencing at rDNA|transcription, DNA-dependent nucleolus histone demethylase activity (H3-K9 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding ovary(1) 1 Myeloproliferative disorder(762;0.0255) OV - Ovarian serous cystadenocarcinoma(323;9.11e-28) CAGCCTGACTCAGTTTCCCAA 0.557 35 70 --- --- --- --- PASS KIAA1529 57653 broad.mit.edu 37 9 100119949 100119949 + Missense_Mutation SNP C A A TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr9:100119949C>A uc011lut.1 + 37 4627 c.3854C>A c.(3853-3855)TCT>TAT p.S1285Y KIAA1529_uc004axe.1_Missense_Mutation_p.S1117Y|KIAA1529_uc004axg.1_Missense_Mutation_p.S1146Y|KIAA1529_uc004axh.1_RNA|KIAA1529_uc011luw.1_Missense_Mutation_p.S302Y NM_020893 NP_065944 hypothetical protein LOC57653 ovary(4)|large_intestine(2)|skin(1) 7 Acute lymphoblastic leukemia(62;0.154) TTAAATTTCTCTCTGCAACAG 0.358 6 112 --- --- --- --- PASS ANKS6 203286 broad.mit.edu 37 9 101518738 101518738 + Missense_Mutation SNP T A A TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr9:101518738T>A uc004ayu.2 - 12 2311 c.2290A>T c.(2290-2292)AGT>TGT p.S764C ANKS6_uc004ayt.2_Missense_Mutation_p.S463C|ANKS6_uc004ayv.1_Missense_Mutation_p.S227C|ANKS6_uc004ayw.1_Missense_Mutation_p.S347C|ANKS6_uc004ayx.1_RNA|ANKS6_uc004ayy.1_RNA NM_173551 NP_775822 Q68DC2 ANKS6_HUMAN ankyrin repeat and sterile alpha motif domain 764 Ser-rich. ovary(2) 2 Acute lymphoblastic leukemia(62;0.0527) GAGCCCCCACTGCTCTTGGAC 0.602 13 24 --- --- --- --- PASS CYLC2 1539 broad.mit.edu 37 9 105767117 105767117 + Silent SNP G T T TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr9:105767117G>T uc004bbs.2 + 4 391 c.321G>T c.(319-321)GTG>GTT p.V107V NM_001340 NP_001331 Q14093 CYLC2_HUMAN cylicin 2 107 31 X 3 AA repeats of K-K-X. cell differentiation|multicellular organismal development|spermatogenesis cytoskeletal calyx structural constituent of cytoskeleton skin(1) 1 all_hematologic(171;0.125) CTGTCGAGGTGGATTCTAAAG 0.363 4 19 --- --- --- --- PASS PALM2-AKAP2 445815 broad.mit.edu 37 9 112918631 112918631 + Missense_Mutation SNP C G G TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr9:112918631C>G uc004bej.3 + 9 3208 c.3028C>G c.(3028-3030)CCC>GCC p.P1010A PALM2-AKAP2_uc004bek.3_Missense_Mutation_p.P1010A|AKAP2_uc011lwi.1_Missense_Mutation_p.P868A|AKAP2_uc004bem.2_Missense_Mutation_p.P868A|AKAP2_uc011lwj.1_Missense_Mutation_p.P779A|PALM2-AKAP2_uc004ben.2_Intron NM_007203 NP_009134 Q9Y2D5 AKAP2_HUMAN PALM2-AKAP2 protein isoform 1 779 enzyme binding ovary(3)|central_nervous_system(2)|skin(1) 6 TCCTCCATCCCCCACCACTGA 0.498 8 52 --- --- --- --- PASS AKNA 80709 broad.mit.edu 37 9 117103916 117103916 + Missense_Mutation SNP G T T TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr9:117103916G>T uc004biq.3 - 20 4099 c.3964C>A c.(3964-3966)CCC>ACC p.P1322T AKNA_uc004bin.3_Missense_Mutation_p.P569T|AKNA_uc004bio.3_Missense_Mutation_p.P782T|AKNA_uc004bip.3_Missense_Mutation_p.P1241T|AKNA_uc004bir.3_Missense_Mutation_p.P1322T|AKNA_uc004bis.3_Missense_Mutation_p.P1322T|AKNA_uc010mve.2_Missense_Mutation_p.P1203T NM_030767 NP_110394 Q7Z591 AKNA_HUMAN AT-hook transcription factor 1322 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding ovary(4)|central_nervous_system(2) 6 AGTCCGGGGGGTGGGCGTGGC 0.637 4 23 --- --- --- --- PASS TNC 3371 broad.mit.edu 37 9 117810681 117810681 + Silent SNP C G G TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr9:117810681C>G uc004bjj.3 - 16 5072 c.4710G>C c.(4708-4710)CTG>CTC p.L1570L TNC_uc010mvf.2_Intron NM_002160 NP_002151 P24821 TENA_HUMAN tenascin C precursor 1570 Fibronectin type-III 11. cell adhesion|response to wounding|signal transduction extracellular space receptor binding|syndecan binding central_nervous_system(4)|upper_aerodigestive_tract(1)|ovary(1)|skin(1) 7 CCTGGGGGTCCAGCAGCTTCC 0.512 5 37 --- --- --- --- PASS ASTN2 23245 broad.mit.edu 37 9 120176822 120176822 + Missense_Mutation SNP G T T TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr9:120176822G>T uc004bjs.1 - 1 496 c.395C>A c.(394-396)GCG>GAG p.A132E ASTN2_uc004bjr.1_Missense_Mutation_p.A132E|ASTN2_uc004bjt.1_Missense_Mutation_p.A132E NM_198187 NP_937830 O75129 ASTN2_HUMAN astrotactin 2 isoform c 132 Extracellular (Potential). integral to membrane skin(4)|ovary(3)|breast(1)|kidney(1) 9 GTCCTGCACCGCGATGCGCCC 0.721 6 7 --- --- --- --- PASS RC3H2 54542 broad.mit.edu 37 9 125613661 125613661 + Nonsense_Mutation SNP C A A TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr9:125613661C>A uc010mwc.1 - 19 3413 c.3172G>T c.(3172-3174)GAG>TAG p.E1058* uc004bnb.1_5'Flank|RC3H2_uc004bnc.2_RNA|RC3H2_uc004bnd.1_Nonsense_Mutation_p.E1058* NM_001100588 NP_001094058 Q9HBD1 RC3H2_HUMAN ring finger and CCCH-type zinc finger domains 2 1058 cell surface|endomembrane system|membrane|membrane fraction|perinuclear region of cytoplasm DNA binding|zinc ion binding ovary(2)|lung(2) 4 AGCTCTAACTCGATATCCCTA 0.308 12 31 --- --- --- --- PASS TAF3 83860 broad.mit.edu 37 10 8055717 8055717 + Missense_Mutation SNP G T T TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr10:8055717G>T uc010qbd.1 + 6 2592 c.2592G>T c.(2590-2592)CAG>CAT p.Q864H NM_031923 NP_114129 Q5VWG9 TAF3_HUMAN RNA polymerase II transcription factor TAFII140 864 maintenance of protein location in nucleus|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent transcription factor TFIID complex protein binding|zinc ion binding ovary(1) 1 GGGGCAATCAGATCTGGATCT 0.517 28 41 --- --- --- --- PASS UPF2 26019 broad.mit.edu 37 10 11997498 11997498 + Silent SNP T C C TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr10:11997498T>C uc001ila.2 - 13 3057 c.2583A>G c.(2581-2583)CAA>CAG p.Q861Q UPF2_uc001ilb.2_Silent_p.Q861Q|UPF2_uc001ilc.2_Silent_p.Q861Q|UPF2_uc009xiz.1_Silent_p.Q861Q NM_080599 NP_542166 Q9HAU5 RENT2_HUMAN UPF2 regulator of nonsense transcripts homolog 861 Sufficient for interaction with UPF3A and UPF3B.|MIF4G 3.|Sufficient for interaction with EIF4A1 and EIF1. mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay exon-exon junction complex|perinuclear region of cytoplasm identical protein binding|RNA binding central_nervous_system(2)|ovary(1) 3 Renal(717;0.228) TAAATTTAGGTTGATTAACCT 0.343 12 32 --- --- --- --- PASS RPP38 10557 broad.mit.edu 37 10 15145543 15145543 + Missense_Mutation SNP G T T rs141142473 TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr10:15145543G>T uc001iny.3 + 3 943 c.230G>T c.(229-231)AGA>ATA p.R77I RPP38_uc009xjm.2_Missense_Mutation_p.R77I|RPP38_uc001inx.3_Missense_Mutation_p.R77I NM_183005 NP_892117 P78345 RPP38_HUMAN ribonuclease P/MRP 38 subunit 77 tRNA processing nucleolar ribonuclease P complex protein binding|ribonuclease P activity ovary(1) 1 AAAGAAAGCAGAGAGAAATGC 0.418 5 9 --- --- --- --- PASS NEBL 10529 broad.mit.edu 37 10 21115440 21115440 + Missense_Mutation SNP C T T TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr10:21115440C>T uc001iqi.2 - 18 2202 c.1805G>A c.(1804-1806)GGC>GAC p.G602D NEBL_uc001iqj.2_RNA|NEBL_uc001iqk.2_Intron|NEBL_uc001iql.1_RNA NM_006393 NP_006384 O76041 NEBL_HUMAN nebulette sarcomeric isoform 602 Nebulin 17. regulation of actin filament length actin binding|structural constituent of muscle ovary(2) 2 CACTGCAGTGCCAGCTCCCAC 0.343 32 42 --- --- --- --- PASS ANKRD26 22852 broad.mit.edu 37 10 27306604 27306604 + Nonsense_Mutation SNP C A A TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr10:27306604C>A uc001ith.2 - 30 4502 c.4330G>T c.(4330-4332)GAA>TAA p.E1444* ANKRD26_uc001itg.2_Nonsense_Mutation_p.E1131*|ANKRD26_uc009xku.1_Nonsense_Mutation_p.E1445* NM_014915 NP_055730 Q9UPS8 ANR26_HUMAN ankyrin repeat domain 26 1444 Potential. centrosome large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|skin(1) 4 TGTAGTTTTTCACATTTCTTT 0.343 20 16 --- --- --- --- PASS ZEB1 6935 broad.mit.edu 37 10 31809581 31809581 + Missense_Mutation SNP G A A TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr10:31809581G>A uc001ivs.3 + 7 1381 c.1318G>A c.(1318-1320)GAA>AAA p.E440K ZEB1_uc001ivr.3_Missense_Mutation_p.E222K|ZEB1_uc010qee.1_Missense_Mutation_p.E222K|ZEB1_uc010qef.1_Missense_Mutation_p.E222K|ZEB1_uc009xlj.1_Missense_Mutation_p.E366K|ZEB1_uc010qeg.1_Missense_Mutation_p.E299K|ZEB1_uc009xlk.1_Missense_Mutation_p.E222K|ZEB1_uc001ivt.3_Missense_Mutation_p.E222K|ZEB1_uc001ivu.3_Missense_Mutation_p.E441K|ZEB1_uc001ivv.3_Missense_Mutation_p.E420K|ZEB1_uc010qeh.1_Missense_Mutation_p.E373K|ZEB1_uc009xlo.1_Missense_Mutation_p.E423K|ZEB1_uc009xlp.2_Missense_Mutation_p.E424K NM_030751 NP_110378 P37275 ZEB1_HUMAN zinc finger E-box binding homeobox 1 isoform b 440 cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation cytoplasm E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding ovary(3)|central_nervous_system(2) 5 Prostate(175;0.0156) TGCATCCAAAGAACAAGAAAC 0.368 15 13 --- --- --- --- PASS ANKRD30A 91074 broad.mit.edu 37 10 37508167 37508167 + Missense_Mutation SNP C G G TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr10:37508167C>G uc001iza.1 + 34 3458 c.3359C>G c.(3358-3360)ACA>AGA p.T1120R NM_052997 NP_443723 Q9BXX3 AN30A_HUMAN ankyrin repeat domain 30A 1176 Potential. nucleus DNA binding|sequence-specific DNA binding transcription factor activity ovary(7)|breast(1)|skin(1) 9 GCTGAGAACACAATGCTCACT 0.383 45 79 --- --- --- --- PASS GDF2 2658 broad.mit.edu 37 10 48413941 48413941 + Silent SNP A T T TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr10:48413941A>T uc001jfa.1 - 2 1090 c.927T>A c.(925-927)GCT>GCA p.A309A NM_016204 NP_057288 Q9UK05 GDF2_HUMAN growth differentiation factor 2 precursor 309 activin receptor signaling pathway|BMP signaling pathway|cartilage development|cellular iron ion homeostasis|growth|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of DNA replication|negative regulation of endothelial cell proliferation|ossification|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent extracellular space cytokine activity|growth factor activity ovary(2)|skin(1) 3 TCGACCCCGCAGCCACGTGGC 0.612 11 12 --- --- --- --- PASS MAPK8 5599 broad.mit.edu 37 10 49628312 49628312 + Missense_Mutation SNP C T T TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr10:49628312C>T uc009xnz.2 + 6 789 c.565C>T c.(565-567)CGC>TGC p.R189C MAPK8_uc001jgl.2_Missense_Mutation_p.R189C|MAPK8_uc001jgm.2_Missense_Mutation_p.R189C|MAPK8_uc001jgo.2_Missense_Mutation_p.R189C|MAPK8_uc009xoa.2_Missense_Mutation_p.R189C|MAPK8_uc001jgn.2_Missense_Mutation_p.R189C|MAPK8_uc010qgk.1_Missense_Mutation_p.R189C|MAPK8_uc001jgp.2_Missense_Mutation_p.R189C|MAPK8_uc001jgq.2_Missense_Mutation_p.R189C NM_139047 NP_620635 P45983 MK08_HUMAN mitogen-activated protein kinase 8 isoform JNK1 189 Protein kinase. activation of pro-apoptotic gene products|cellular response to mechanical stimulus|induction of apoptosis by intracellular signals|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of apoptosis|negative regulation of protein binding|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of deacetylase activity|regulation of protein localization|regulation of sequence-specific DNA binding transcription factor activity|response to UV|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|histone deacetylase binding|histone deacetylase regulator activity|JUN kinase activity|protein binding central_nervous_system(3)|lung(2)|stomach(1)|ovary(1)|kidney(1) 8 Ovarian(717;0.0221)|Lung SC(717;0.113)|all_neural(218;0.116) Epithelial(53;3.46e-65)|Lung(62;0.125) TGTAGTGACTCGCTACTACAG 0.408 22 35 --- --- --- --- PASS MAPK8 5599 broad.mit.edu 37 10 49628313 49628313 + Missense_Mutation SNP G T T TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr10:49628313G>T uc009xnz.2 + 6 790 c.566G>T c.(565-567)CGC>CTC p.R189L MAPK8_uc001jgl.2_Missense_Mutation_p.R189L|MAPK8_uc001jgm.2_Missense_Mutation_p.R189L|MAPK8_uc001jgo.2_Missense_Mutation_p.R189L|MAPK8_uc009xoa.2_Missense_Mutation_p.R189L|MAPK8_uc001jgn.2_Missense_Mutation_p.R189L|MAPK8_uc010qgk.1_Missense_Mutation_p.R189L|MAPK8_uc001jgp.2_Missense_Mutation_p.R189L|MAPK8_uc001jgq.2_Missense_Mutation_p.R189L NM_139047 NP_620635 P45983 MK08_HUMAN mitogen-activated protein kinase 8 isoform JNK1 189 Protein kinase. activation of pro-apoptotic gene products|cellular response to mechanical stimulus|induction of apoptosis by intracellular signals|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of apoptosis|negative regulation of protein binding|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of deacetylase activity|regulation of protein localization|regulation of sequence-specific DNA binding transcription factor activity|response to UV|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|histone deacetylase binding|histone deacetylase regulator activity|JUN kinase activity|protein binding central_nervous_system(3)|lung(2)|stomach(1)|ovary(1)|kidney(1) 8 Ovarian(717;0.0221)|Lung SC(717;0.113)|all_neural(218;0.116) Epithelial(53;3.46e-65)|Lung(62;0.125) GTAGTGACTCGCTACTACAGA 0.408 22 35 --- --- --- --- PASS C10orf71 118461 broad.mit.edu 37 10 50530641 50530641 + Missense_Mutation SNP C G G TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr10:50530641C>G uc010qgp.1 + 3 390 c.51C>G c.(49-51)AGC>AGG p.S17R NM_199459 NP_955629 Q711Q0 CJ071_HUMAN hypothetical protein LOC118461 isoform 2 17 0 ACTCCTCCAGCATCGGCAGCG 0.552 6 15 --- --- --- --- PASS AGAP7 653268 broad.mit.edu 37 10 51465367 51465367 + Missense_Mutation SNP G C C TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr10:51465367G>C uc001jio.2 - 7 1215 c.1089C>G c.(1087-1089)ATC>ATG p.I363M PARG_uc001jih.2_Intron|uc010qha.1_Intron|uc001jin.2_Intron|uc010qhb.1_Intron|uc010qhc.1_Intron NM_001077685 NP_001071153 Q5VUJ5 AGAP7_HUMAN ArfGAP with GTPase domain, ankyrin repeat and PH 363 PH. regulation of ARF GTPase activity ARF GTPase activator activity|zinc ion binding 0 TGAGCTTGGGGATGGTGGTGC 0.517 4 96 --- --- --- --- PASS USP54 159195 broad.mit.edu 37 10 75290488 75290488 + Missense_Mutation SNP G A A TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr10:75290488G>A uc001juo.2 - 11 1438 c.1421C>T c.(1420-1422)CCC>CTC p.P474L USP54_uc001juk.2_5'UTR|USP54_uc001jul.2_5'UTR|USP54_uc001jum.2_RNA|USP54_uc001jun.2_RNA|USP54_uc001jup.2_Missense_Mutation_p.P474L|USP54_uc010qkl.1_Missense_Mutation_p.P474L NM_152586 NP_689799 Q70EL1 UBP54_HUMAN ubiquitin specific peptidase 54 474 ubiquitin-dependent protein catabolic process protein binding|ubiquitin thiolesterase activity breast(3)|lung(2)|kidney(1) 6 Prostate(51;0.0112) CGAGGCCTGGGGCTCATCGCC 0.502 9 31 --- --- --- --- PASS LRIT1 26103 broad.mit.edu 37 10 85992438 85992438 + Missense_Mutation SNP C A A TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr10:85992438C>A uc001kcz.1 - 4 1139 c.1117G>T c.(1117-1119)GCT>TCT p.A373S NM_015613 NP_056428 Q9P2V4 LRIT1_HUMAN retina specific protein PAL 373 Lumenal (Potential). integral to endoplasmic reticulum membrane 0 TTGTTGTAAGCAGCAGCTTCC 0.587 3 7 --- --- --- --- PASS PANK1 53354 broad.mit.edu 37 10 91405006 91405006 + Silent SNP C G G TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr10:91405006C>G uc001kgp.1 - 1 210 c.54G>C c.(52-54)GCG>GCC p.A18A PANK1_uc001kgn.1_5'Flank|PANK1_uc001kgo.1_5'Flank|PANK1_uc009xtu.1_5'Flank NM_148977 NP_683878 Q8TE04 PANK1_HUMAN pantothenate kinase 1 isoform alpha 18 coenzyme A biosynthetic process|pantothenate metabolic process cytosol|nucleus ATP binding|pantothenate kinase activity 0 Bezafibrate(DB01393) GACTGGTCCCCGCCACTGAGC 0.692 4 4 --- --- --- --- PASS NT5C2 22978 broad.mit.edu 37 10 104854165 104854165 + Missense_Mutation SNP C A A TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr10:104854165C>A uc001kwo.2 - 13 1047 c.861G>T c.(859-861)TTG>TTT p.L287F NT5C2_uc010qqp.1_Missense_Mutation_p.L258F|NT5C2_uc001kwq.2_Missense_Mutation_p.L287F|NT5C2_uc001kwp.2_Missense_Mutation_p.L134F NM_012229 NP_036361 P49902 5NTC_HUMAN 5'-nucleotidase, cytosolic II 287 purine base metabolic process|purine nucleotide catabolic process cytosol 5'-nucleotidase activity|metal ion binding|nucleotide binding|protein binding 0 all_hematologic(284;0.176)|Colorectal(252;0.178) Epithelial(162;1.33e-08)|all cancers(201;1.04e-07)|BRCA - Breast invasive adenocarcinoma(275;0.159) Adenosine triphosphate(DB00171)|Ribavirin(DB00811) GTGCATCCACCAAGATCAAGT 0.473 4 27 --- --- --- --- PASS GPAM 57678 broad.mit.edu 37 10 113924340 113924340 + Missense_Mutation SNP G A A TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr10:113924340G>A uc009xxy.1 - 13 1448 c.1250C>T c.(1249-1251)CCG>CTG p.P417L GPAM_uc001kzp.2_Missense_Mutation_p.P417L|GPAM_uc001kzq.1_Missense_Mutation_p.P417L NM_020918 NP_065969 Q9HCL2 GPAT1_HUMAN mitochondrial glycerol 3-phosphate 417 phospholipid biosynthetic process|triglyceride biosynthetic process integral to membrane|mitochondrial outer membrane glycerol-3-phosphate O-acyltransferase activity ovary(1)|skin(1) 2 Epithelial(162;0.0306)|all cancers(201;0.123) AGCAGACACCGGTTTCTGACT 0.368 13 25 --- --- --- --- PASS NRAP 4892 broad.mit.edu 37 10 115348836 115348836 + Silent SNP C G G TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr10:115348836C>G uc001laj.2 - 42 5255 c.5091G>C c.(5089-5091)CGG>CGC p.R1697R HABP2_uc001lai.3_3'UTR|NRAP_uc009xyb.2_Silent_p.R450R|NRAP_uc001lak.2_Silent_p.R1662R|NRAP_uc001lal.3_Silent_p.R1698R NM_198060 NP_932326 Q86VF7 NRAP_HUMAN nebulin-related anchoring protein isoform S 1697 R -> Q (in Ref. 3; CAD89899). fascia adherens|muscle tendon junction actin binding|muscle alpha-actinin binding|zinc ion binding ovary(6)|central_nervous_system(3)|upper_aerodigestive_tract(1) 10 Colorectal(252;0.0233)|Breast(234;0.188) Epithelial(162;0.00392)|all cancers(201;0.00569) CTTCTGCCCCCCGCTGCTGAA 0.562 12 14 --- --- --- --- PASS FANK1 92565 broad.mit.edu 37 10 127685989 127685989 + Silent SNP G A A TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr10:127685989G>A uc001ljh.3 + 6 578 c.474G>A c.(472-474)AGG>AGA p.R158R FANK1_uc009yan.2_Silent_p.R184R|FANK1_uc001lji.2_Silent_p.R152R NM_145235 NP_660278 Q8TC84 FANK1_HUMAN fibronectin type III and ankyrin repeat domains 158 ANK 2. cytoplasm|nucleus ovary(1) 1 all_lung(145;0.00752)|Lung NSC(174;0.0115)|Colorectal(57;0.0847)|all_neural(114;0.0936) TTTCCTTTAGGCTTGTGAAAA 0.408 12 26 --- --- --- --- PASS PPP2R2D 55844 broad.mit.edu 37 10 133769242 133769242 + Silent SNP G T T TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr10:133769242G>T uc001lks.2 + 7 1281 c.1038G>T c.(1036-1038)ACG>ACT p.T346T PPP2R2D_uc001lkr.2_Silent_p.T152T|PPP2R2D_uc001lkt.2_Silent_p.T152T|PPP2R2D_uc009yay.2_Silent_p.T214T NM_018461 NP_060931 Q66LE6 2ABD_HUMAN protein phosphatase 2, regulatory subunit B, 379 WD 6. cell division|exit from mitosis|mitosis|signal transduction cytoplasm|protein phosphatase type 2A complex protein phosphatase type 2A regulator activity skin(1) 1 all_cancers(35;2.16e-12)|all_epithelial(44;2.77e-09)|Lung NSC(174;0.00237)|all_lung(145;0.00354)|Colorectal(31;0.0124)|Breast(234;0.023)|all_neural(114;0.0299)|Melanoma(40;0.123)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;7.86e-05)|Epithelial(32;8.82e-05)|all cancers(32;0.000106)|BRCA - Breast invasive adenocarcinoma(275;0.21) ATAGAGACACGCGGAGGGATG 0.582 4 16 --- --- --- --- PASS MUC5B 727897 broad.mit.edu 37 11 1267049 1267049 + Missense_Mutation SNP C T T TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr11:1267049C>T uc009ycr.1 + 49 10814 c.10688C>T c.(10687-10689)ACG>ATG p.T3563M MUC5B_uc001ltb.2_Missense_Mutation_p.T2983M NM_017511 NP_059981 Q9HC84 MUC5B_HUMAN SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming; 2980 7 X Cys-rich subdomain repeats.|Thr-rich.|17 X approximate tandem repeats, Ser/Thr- rich. Missing (in Ref. 6; AAB61398). cell adhesion extracellular region extracellular matrix structural constituent|protein binding 0 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) ACCAGCTCTACGGCCACGCCC 0.617 11 100 --- --- --- --- PASS IGF2AS 51214 broad.mit.edu 37 11 2167579 2167579 + Missense_Mutation SNP C A A TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr11:2167579C>A uc010qxi.1 + 2 546 c.409C>A c.(409-411)CCT>ACT p.P137T IGF2_uc001lvh.2_Intron|INS-IGF2_uc001lvi.2_Intron|IGF2AS_uc001lvk.1_RNA|IGF2AS_uc001lvl.1_Intron NM_016412 NP_057496 RecName: Full=Putative insulin-like growth factor 2 antisense gene protein; Short=IGF2-AS; AltName: Full=PEG8/IGF2AS protein; 0 all_epithelial(84;0.00018)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24) Colorectal(5;0.00388)|COAD - Colon adenocarcinoma(6;0.0239) BRCA - Breast invasive adenocarcinoma(625;0.0025)|LUSC - Lung squamous cell carcinoma(625;0.082)|Lung(200;0.153) TCCGTCACCCCCTGCAGGGCG 0.677 15 21 --- --- --- --- PASS IGF2AS 51214 broad.mit.edu 37 11 2167580 2167580 + Missense_Mutation SNP C A A TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr11:2167580C>A uc010qxi.1 + 2 547 c.410C>A c.(409-411)CCT>CAT p.P137H IGF2_uc001lvh.2_Intron|INS-IGF2_uc001lvi.2_Intron|IGF2AS_uc001lvk.1_RNA|IGF2AS_uc001lvl.1_Intron NM_016412 NP_057496 RecName: Full=Putative insulin-like growth factor 2 antisense gene protein; Short=IGF2-AS; AltName: Full=PEG8/IGF2AS protein; 0 all_epithelial(84;0.00018)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24) Colorectal(5;0.00388)|COAD - Colon adenocarcinoma(6;0.0239) BRCA - Breast invasive adenocarcinoma(625;0.0025)|LUSC - Lung squamous cell carcinoma(625;0.082)|Lung(200;0.153) CCGTCACCCCCTGCAGGGCGC 0.677 15 20 --- --- --- --- PASS OR51L1 119682 broad.mit.edu 37 11 5020998 5020998 + Missense_Mutation SNP G C C TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr11:5020998G>C uc010qyu.1 + 1 786 c.786G>C c.(784-786)ATG>ATC p.M262I NM_001004755 NP_001004755 Q8NGJ5 O51L1_HUMAN olfactory receptor, family 51, subfamily L, 262 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086) Epithelial(150;1.75e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19) GGGTGTCAATGGTCCATCGCT 0.463 4 30 --- --- --- --- PASS OR52A4 390053 broad.mit.edu 37 11 5142501 5142501 + Missense_Mutation SNP A G G TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr11:5142501A>G uc001lzz.1 - 1 308 c.308T>C c.(307-309)TTT>TCT p.F103S OR52A4_uc001maa.2_RNA NM_001005222 NP_001005222 olfactory receptor, family 52, subfamily A, ovary(2) 2 Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675) Epithelial(150;1.7e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2) CCACATCTGAAAGAGGCAAGC 0.463 5 40 --- --- --- --- PASS UBQLNL 143630 broad.mit.edu 37 11 5537174 5537174 + Silent SNP C A A TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr11:5537174C>A uc001maz.3 - 1 783 c.498G>T c.(496-498)GTG>GTT p.V166V HBG2_uc001mak.1_Intron NM_145053 NP_659490 Q8IYU4 UBQLN_HUMAN ubiquilin-like 166 large_intestine(2)|skin(1) 3 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.136) CTGGGTGGCTCACTTCCAAGT 0.507 16 40 --- --- --- --- PASS FAM160A2 84067 broad.mit.edu 37 11 6238899 6238899 + Silent SNP T A A TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr11:6238899T>A uc001mcl.3 - 9 2276 c.1917A>T c.(1915-1917)CCA>CCT p.P639P FAM160A2_uc001mck.3_Silent_p.P653P|FAM160A2_uc001mcm.2_Silent_p.P639P NM_001098794 NP_001092264 Q8N612 F16A2_HUMAN hypothetical protein LOC84067 isoform 2 639 early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|protein transport FHF complex protein binding skin(2) 2 GCCATGATCCTGGCACTCCAT 0.443 8 18 --- --- --- --- PASS FAM160A2 84067 broad.mit.edu 37 11 6243821 6243821 + Missense_Mutation SNP T A A TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr11:6243821T>A uc001mcl.3 - 6 1401 c.1042A>T c.(1042-1044)ATC>TTC p.I348F FAM160A2_uc001mck.3_Missense_Mutation_p.I348F|FAM160A2_uc001mcm.2_Missense_Mutation_p.I348F NM_001098794 NP_001092264 Q8N612 F16A2_HUMAN hypothetical protein LOC84067 isoform 2 348 early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|protein transport FHF complex protein binding skin(2) 2 GTACTGGCGATCATCTCCTCC 0.502 9 29 --- --- --- --- PASS CCKBR 887 broad.mit.edu 37 11 6290904 6290904 + Nonsense_Mutation SNP G T T TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr11:6290904G>T uc001mcp.2 + 2 350 c.157G>T c.(157-159)GAG>TAG p.E53* CCKBR_uc001mcq.2_5'UTR|CCKBR_uc001mcr.2_Nonsense_Mutation_p.E53*|CCKBR_uc001mcs.2_Nonsense_Mutation_p.E53* NM_176875 NP_795344 P32239 GASR_HUMAN cholecystokinin B receptor 53 Extracellular (Potential). activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cell proliferation|digestion|elevation of cytosolic calcium ion concentration|feeding behavior|positive regulation of cell proliferation|sensory perception 1-phosphatidylinositol-3-kinase regulator activity|gastrin receptor activity|phosphatidylinositol phospholipase C activity|type B gastrin/cholecystokinin receptor binding lung(5)|ovary(2)|breast(1) 8 Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029) Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139) Pentagastrin(DB00183) CCCAGAATTGGAGCTGGCCAT 0.537 8 20 --- --- --- --- PASS DCHS1 8642 broad.mit.edu 37 11 6661842 6661842 + Silent SNP G T T TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr11:6661842G>T uc001mem.1 - 2 1413 c.1003C>A c.(1003-1005)CGA>AGA p.R335R NM_003737 NP_003728 Q96JQ0 PCD16_HUMAN dachsous 1 precursor 335 Extracellular (Potential).|Cadherin 3. calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(3)|large_intestine(1)|pancreas(1) 5 Medulloblastoma(188;0.00263)|all_neural(188;0.026) Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CCACCATCTCGTGCTTGCACC 0.587 12 54 --- --- --- --- PASS OR6A2 8590 broad.mit.edu 37 11 6816414 6816414 + Missense_Mutation SNP G T T TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr11:6816414G>T uc001mes.1 - 1 726 c.526C>A c.(526-528)CCC>ACC p.P176T NM_003696 NP_003687 O95222 OR6A2_HUMAN olfactory receptor, family 6, subfamily A, 176 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(3)|central_nervous_system(1)|pancreas(1) 5 Medulloblastoma(188;0.0523)|all_neural(188;0.236) Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) ATGATGTTGGGGCCACAGTAA 0.493 14 86 --- --- --- --- PASS KCNA4 3739 broad.mit.edu 37 11 30033705 30033705 + Missense_Mutation SNP C A A TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr11:30033705C>A uc001msk.2 - 2 1673 c.521G>T c.(520-522)TGT>TTT p.C174F NM_002233 NP_002224 P22459 KCNA4_HUMAN potassium voltage-gated channel, shaker-related 174 voltage-gated potassium channel complex potassium ion binding|protein binding|voltage-gated potassium channel activity ovary(2)|central_nervous_system(1)|pancreas(1) 4 ACGTTCACAACAGTCACTGTA 0.502 7 24 --- --- --- --- PASS PAX6 5080 broad.mit.edu 37 11 31822244 31822244 + Missense_Mutation SNP G A A TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr11:31822244G>A uc001mtd.3 - 6 1408 c.518C>T c.(517-519)ACG>ATG p.T173M PAX6_uc001mte.3_Missense_Mutation_p.T173M|PAX6_uc001mtg.3_Missense_Mutation_p.T187M|PAX6_uc001mtf.3_Missense_Mutation_p.T173M|PAX6_uc001mth.3_Missense_Mutation_p.T173M|PAX6_uc009yjr.2_Missense_Mutation_p.T173M NM_001127612 NP_001121084 P26367 PAX6_HUMAN paired box gene 6 isoform a 173 Gln/Gly-rich. blood vessel development|central nervous system development|cornea development in camera-type eye|glucose homeostasis|iris morphogenesis|negative regulation of neurogenesis|neuron fate commitment|pancreatic A cell development|positive regulation of transcription, DNA-dependent|response to wounding|visual perception cytoplasm|nuclear chromatin R-SMAD binding|RNA polymerase II core promoter sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|ubiquitin-protein ligase activity lung(4)|ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1) 9 Lung SC(675;0.225) TTTACCTTGCGTAGGTTGCCC 0.572 Wilms_tumor-Aniridia-ambiguous_Genitals-mental_Retardation 41 74 --- --- --- --- PASS FOLH1 2346 broad.mit.edu 37 11 49214371 49214371 + Missense_Mutation SNP C A A TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr11:49214371C>A uc001ngy.2 - 4 748 c.487G>T c.(487-489)GCT>TCT p.A163S FOLH1_uc001ngz.2_Missense_Mutation_p.A163S|FOLH1_uc009yly.2_Missense_Mutation_p.A148S|FOLH1_uc009ylz.2_Missense_Mutation_p.A148S|FOLH1_uc009yma.2_5'UTR|FOLH1_uc001nha.2_Missense_Mutation_p.A148S NM_004476 NP_004467 Q04609 FOLH1_HUMAN folate hydrolase 1 isoform 1 163 Extracellular (Probable). proteolysis cytoplasm|integral to plasma membrane|membrane fraction|nucleus carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity large_intestine(1)|ovary(1)|skin(1) 3 Capromab(DB00089)|L-Glutamic Acid(DB00142) GGAGAGAAAGCACTGAAAGGT 0.348 11 41 --- --- --- --- PASS OR5D13 390142 broad.mit.edu 37 11 55541493 55541493 + Missense_Mutation SNP C A A TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr11:55541493C>A uc010ril.1 + 1 580 c.580C>A c.(580-582)CCC>ACC p.P194T NM_001001967 NP_001001967 Q8NGL4 OR5DD_HUMAN olfactory receptor, family 5, subfamily D, 194 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|pancreas(1)|skin(1) 3 all_epithelial(135;0.196) CTACTCAGACCCCTATATCAG 0.353 23 73 --- --- --- --- PASS OR5F1 338674 broad.mit.edu 37 11 55761640 55761640 + Silent SNP C T T TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr11:55761640C>T uc010riv.1 - 1 462 c.462G>A c.(460-462)CTG>CTA p.L154L NM_003697 NP_003688 O95221 OR5F1_HUMAN olfactory receptor, family 5, subfamily F, 154 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|pancreas(1) 2 Esophageal squamous(21;0.00448) CCATGAAGTTCAGCAACCCTG 0.507 14 34 --- --- --- --- PASS OR8K5 219453 broad.mit.edu 37 11 55926940 55926940 + Missense_Mutation SNP A G G TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr11:55926940A>G uc010rja.1 - 1 854 c.854T>C c.(853-855)CTT>CCT p.L285P NM_001004058 NP_001004058 Q8NH50 OR8K5_HUMAN olfactory receptor, family 8, subfamily K, 285 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|pancreas(1)|skin(1) 4 Esophageal squamous(21;0.00693) Lung NSC(402;0.197)|all_epithelial(135;0.236) CAAAGGGTTAAGCATGGGGAT 0.343 4 43 --- --- --- --- PASS OR5T1 390155 broad.mit.edu 37 11 56043811 56043811 + Missense_Mutation SNP A T T TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr11:56043811A>T uc001nio.1 + 1 697 c.697A>T c.(697-699)ATT>TTT p.I233F NM_001004745 NP_001004745 Q8NG75 OR5T1_HUMAN olfactory receptor, family 5, subfamily T, 233 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|pancreas(1) 3 Esophageal squamous(21;0.00448) CTATGGTTTTATTCTGTTGGC 0.428 43 119 --- --- --- --- PASS OR9I1 219954 broad.mit.edu 37 11 57886523 57886523 + Missense_Mutation SNP A G G TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr11:57886523A>G uc001nml.1 - 1 394 c.394T>C c.(394-396)TAT>CAT p.Y132H OR9Q1_uc001nmj.2_Intron NM_001005211 NP_001005211 Q8NGQ6 OR9I1_HUMAN olfactory receptor, family 9, subfamily I, 132 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity pancreas(1) 1 Breast(21;0.0589) GCCACGGTATAGAGCAGTGGG 0.552 11 22 --- --- --- --- PASS OR5B12 390191 broad.mit.edu 37 11 58206843 58206843 + Missense_Mutation SNP T A A TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr11:58206843T>A uc010rkh.1 - 1 782 c.782A>T c.(781-783)AAC>ATC p.N261I NM_001004733 NP_001004733 Q96R08 OR5BC_HUMAN olfactory receptor, family 5, subfamily B, 261 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 Esophageal squamous(5;0.0027) Breast(21;0.0778) ATGGCTGGAGTTAGGTCGTAA 0.458 11 40 --- --- --- --- PASS MS4A6E 245802 broad.mit.edu 37 11 60102436 60102436 + Missense_Mutation SNP A T T TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr11:60102436A>T uc001npd.2 + 1 82 c.68A>T c.(67-69)CAA>CTA p.Q23L NM_139249 NP_640342 Q96DS6 M4A6E_HUMAN membrane-spanning 4-domains, subfamily A, member 23 Cytoplasmic (Potential). integral to membrane receptor activity 0 AACTTCTCCCAAGCAGAGAAA 0.423 36 54 --- --- --- --- PASS MS4A6E 245802 broad.mit.edu 37 11 60102450 60102450 + Nonsense_Mutation SNP G T T TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr11:60102450G>T uc001npd.2 + 1 96 c.82G>T c.(82-84)GAA>TAA p.E28* NM_139249 NP_640342 Q96DS6 M4A6E_HUMAN membrane-spanning 4-domains, subfamily A, member 28 Cytoplasmic (Potential). integral to membrane receptor activity 0 AGAGAAACCCGAACCCACCAA 0.443 25 57 --- --- --- --- PASS MS4A7 58475 broad.mit.edu 37 11 60150658 60150658 + Missense_Mutation SNP C A A TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr11:60150658C>A uc001npe.2 + 2 189 c.44C>A c.(43-45)ACA>AAA p.T15K MS4A7_uc001npf.2_Missense_Mutation_p.T15K|MS4A7_uc001npg.2_Missense_Mutation_p.T15K|MS4A7_uc001nph.2_Missense_Mutation_p.T15K|MS4A14_uc001npi.2_Intron|MS4A7_uc009ymx.1_Missense_Mutation_p.T15K NM_206939 NP_996822 Q9GZW8 MS4A7_HUMAN membrane-spanning 4-domains, subfamily A, member 15 Cytoplasmic (Potential). integral to membrane receptor activity ovary(1)|central_nervous_system(1) 2 CACAGCTTTACACCAAAGGGC 0.458 19 62 --- --- --- --- PASS NXF1 10482 broad.mit.edu 37 11 62568599 62568599 + Silent SNP G T T TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr11:62568599G>T uc001nvf.1 - 9 1009 c.873C>A c.(871-873)CCC>CCA p.P291P NXF1_uc001nvg.1_Silent_p.P291P|NXF1_uc009yog.1_Silent_p.P334P|NXF1_uc010rmh.1_Silent_p.P154P NM_006362 NP_006353 Q9UBU9 NXF1_HUMAN nuclear RNA export factor 1 isoform 1 291 Interaction with THOC4.|LRR 1. gene expression|interspecies interaction between organisms cytosol|nuclear speck nucleotide binding|protein binding skin(3) 3 TCTTCAGGTTGGGTGCCTTCT 0.453 16 28 --- --- --- --- PASS SLC22A9 114571 broad.mit.edu 37 11 63175607 63175607 + Missense_Mutation SNP T A A TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr11:63175607T>A uc001nww.2 + 8 1580 c.1312T>A c.(1312-1314)TTG>ATG p.L438M SLC22A9_uc001nwx.2_Intron NM_080866 NP_543142 Q8IVM8 S22A9_HUMAN solute carrier family 22 (organic anion/cation 438 Helical; (Potential). transmembrane transport integral to membrane breast(2)|large_intestine(1) 3 GCGTGAGGTTTTGGCAACACT 0.478 21 14 --- --- --- --- PASS MOGAT2 80168 broad.mit.edu 37 11 75442217 75442217 + Silent SNP G A A TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr11:75442217G>A uc010rru.1 + 6 891 c.891G>A c.(889-891)TCG>TCA p.S297S MOGAT2_uc010rrv.1_Silent_p.S215S NM_025098 NP_079374 Q3SYC2 MOGT2_HUMAN monoacylglycerol O-acyltransferase 2 297 glycerol metabolic process endoplasmic reticulum membrane|integral to membrane 2-acylglycerol O-acyltransferase activity ovary(2) 2 Ovarian(111;0.103) TGCATCCCTCGGAGGAGGAGG 0.572 25 32 --- --- --- --- PASS GRM5 2915 broad.mit.edu 37 11 88338018 88338018 + Missense_Mutation SNP C A A TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr11:88338018C>A uc001pcq.2 - 4 1462 c.1262G>T c.(1261-1263)GGC>GTC p.G421V GRM5_uc009yvm.2_Missense_Mutation_p.G421V NM_001143831 NP_001137303 P41594 GRM5_HUMAN glutamate receptor, metabotropic 5 isoform a 421 Extracellular (Potential). activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity central_nervous_system(4)|ovary(2)|lung(2)|breast(1) 9 Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834) Acamprosate(DB00659) TCCTGCATAGCCTGGGCAGAG 0.463 15 22 --- --- --- --- PASS NOX4 50507 broad.mit.edu 37 11 89059961 89059961 + Missense_Mutation SNP C A A TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr11:89059961C>A uc001pct.2 - 18 1939 c.1700G>T c.(1699-1701)GGG>GTG p.G567V NOX4_uc009yvr.2_Missense_Mutation_p.G542V|NOX4_uc001pcu.2_Missense_Mutation_p.G493V|NOX4_uc001pcw.2_Missense_Mutation_p.G260V|NOX4_uc001pcx.2_Missense_Mutation_p.G220V|NOX4_uc001pcv.2_Missense_Mutation_p.G527V|NOX4_uc009yvo.2_RNA|NOX4_uc010rtu.1_Missense_Mutation_p.G380V|NOX4_uc009yvp.2_Missense_Mutation_p.G331V|NOX4_uc010rtv.1_Missense_Mutation_p.G503V|NOX4_uc009yvq.2_Missense_Mutation_p.G543V NM_016931 NP_058627 Q9NPH5 NOX4_HUMAN NADPH oxidase 4 isoform a 567 Cytoplasmic (Potential).|Mediates interaction with TLR4. cell aging|cell morphogenesis|inflammatory response|negative regulation of cell proliferation|superoxide anion generation endoplasmic reticulum membrane|focal adhesion|integral to membrane|nucleus electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|nucleotide binding|oxygen sensor activity ovary(1)|central_nervous_system(1) 2 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011) AAATCTTGTCCCATATGAGTT 0.373 18 16 --- --- --- --- PASS MTNR1B 4544 broad.mit.edu 37 11 92715302 92715302 + Missense_Mutation SNP G A A TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr11:92715302G>A uc001pdk.1 + 2 1016 c.913G>A c.(913-915)GCC>ACC p.A305T NM_005959 NP_005950 P49286 MTR1B_HUMAN melatonin receptor 1B 305 Helical; Name=7; (Potential). G-protein signaling, coupled to cyclic nucleotide second messenger|glucose homeostasis|regulation of insulin secretion|synaptic transmission integral to plasma membrane melatonin receptor activity ovary(1)|central_nervous_system(1) 2 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) Ramelteon(DB00980) CTGCCTGAATGCCATTGTCTA 0.512 14 210 --- --- --- --- PASS HEPHL1 341208 broad.mit.edu 37 11 93797542 93797542 + Missense_Mutation SNP A G G TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr11:93797542A>G uc001pep.2 + 4 831 c.674A>G c.(673-675)GAG>GGG p.E225G NM_001098672 NP_001092142 Q6MZM0 HPHL1_HUMAN hephaestin-like 1 precursor 225 Plastocyanin-like 2.|Extracellular (Potential). copper ion transport integral to membrane copper ion binding|oxidoreductase activity ovary(3) 3 Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824) GTGGATCGAGAGTTTGTTATA 0.378 10 32 --- --- --- --- PASS DYNC2H1 79659 broad.mit.edu 37 11 103325989 103325989 + Missense_Mutation SNP A T T TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr11:103325989A>T uc001pho.2 + 86 12676 c.12532A>T c.(12532-12534)ACA>TCA p.T4178S DYNC2H1_uc001phn.1_Missense_Mutation_p.T4185S|DYNC2H1_uc009yxe.1_Missense_Mutation_p.T791S NM_001080463 NP_001073932 Q8NCM8 DYHC2_HUMAN dynein, cytoplasmic 2, heavy chain 1 4178 cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane ATP binding|ATPase activity|microtubule motor activity 0 Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348) BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785) CCATCCAGACACATTTCTTAA 0.383 25 31 --- --- --- --- PASS APOC3 345 broad.mit.edu 37 11 116703578 116703578 + Missense_Mutation SNP C A A TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr11:116703578C>A uc001ppt.1 + 4 324 c.278C>A c.(277-279)CCA>CAA p.P93Q NM_000040 NP_000031 P02656 APOC3_HUMAN apolipoprotein C-III precursor 93 Lipid-binding. Cdc42 protein signal transduction|cholesterol efflux|cholesterol homeostasis|chylomicron remnant clearance|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle remodeling|lipoprotein metabolic process|negative regulation of cholesterol import|negative regulation of fatty acid biosynthetic process|negative regulation of high-density lipoprotein particle clearance|negative regulation of lipoprotein lipase activity|negative regulation of low-density lipoprotein particle clearance|negative regulation of receptor-mediated endocytosis|negative regulation of triglyceride catabolic process|negative regulation of very-low-density lipoprotein particle clearance|negative regulation of very-low-density lipoprotein particle remodeling|phospholipid efflux|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle assembly chylomicron|intermediate-density lipoprotein particle|spherical high-density lipoprotein particle|very-low-density lipoprotein particle high-density lipoprotein particle receptor binding|lipase inhibitor activity|phospholipid binding 0 all_hematologic(175;0.0487) Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.62e-05)|all cancers(92;0.000165)|OV - Ovarian serous cystadenocarcinoma(223;0.148) GAGGTCAGACCAACTTCAGCC 0.572 11 10 --- --- --- --- PASS MFRP 83552 broad.mit.edu 37 11 119215587 119215587 + Missense_Mutation SNP G T T TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr11:119215587G>T uc001pwj.2 - 6 929 c.769C>A c.(769-771)CGC>AGC p.R257S MFRP_uc010rzf.1_RNA|MFRP_uc010rzg.1_Missense_Mutation_p.R257S NM_031433 NP_113621 Q9BXJ0 C1QT5_HUMAN membrane frizzled-related protein Error:Variant_position_missing_in_Q9BXJ0_after_alignment collagen 0 Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;3.84e-05) CACTCACCGCGCCCAGGGGCC 0.602 8 4 --- --- --- --- PASS UBASH3B 84959 broad.mit.edu 37 11 122678809 122678809 + Silent SNP C A A TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr11:122678809C>A uc001pyi.3 + 13 2097 c.1737C>A c.(1735-1737)TCC>TCA p.S579S NM_032873 NP_116262 Q8TF42 UBS3B_HUMAN ubiquitin associated and SH3 domain containing, 579 Protein tyrosine phosphatase (By similarity). cytoplasm|nucleus protein tyrosine phosphatase activity central_nervous_system(1) 1 Breast(109;0.00254)|Medulloblastoma(222;0.00877)|Lung NSC(97;0.0183)|all_lung(97;0.0186)|all_neural(223;0.0381)|all_hematologic(192;0.104) BRCA - Breast invasive adenocarcinoma(274;1.37e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0463) ACGCATCTTCCCTTGAAGCGT 0.463 10 328 --- --- --- --- PASS OR10G7 390265 broad.mit.edu 37 11 123909083 123909083 + Missense_Mutation SNP C A A TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr11:123909083C>A uc001pzq.1 - 1 626 c.626G>T c.(625-627)TGC>TTC p.C209F NM_001004463 NP_001004463 Q8NGN6 O10G7_HUMAN olfactory receptor, family 10, subfamily G, 209 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2) 2 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521) CAGGACAAAGCAGCCCGAGGC 0.562 37 41 --- --- --- --- PASS OR8A1 390275 broad.mit.edu 37 11 124440836 124440836 + Missense_Mutation SNP C G G TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr11:124440836C>G uc010san.1 + 1 872 c.872C>G c.(871-873)TCT>TGT p.S291C NM_001005194 NP_001005194 Q8NGG7 OR8A1_HUMAN olfactory receptor, family 8, subfamily A, 291 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0214) AATGTGGCCTCTGTGTTCTAC 0.493 6 42 --- --- --- --- PASS PANX3 116337 broad.mit.edu 37 11 124481592 124481592 + Missense_Mutation SNP T C C TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr11:124481592T>C uc001qah.2 + 1 140 c.140T>C c.(139-141)TTG>TCG p.L47S NM_052959 NP_443191 Q96QZ0 PANX3_HUMAN pannexin 3 47 Helical; (Potential). protein hexamerization gap junction|integral to membrane gap junction hemi-channel activity|ion channel activity 0 all_hematologic(175;0.215) Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0219) GGCTCCCCCTTGTTGCTGATG 0.602 10 21 --- --- --- --- PASS GLB1L2 89944 broad.mit.edu 37 11 134212647 134212647 + Splice_Site SNP G T T TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr11:134212647G>T uc001qhp.2 + 2 275 c.87_splice c.e2-1 p.R29_splice NM_138342 NP_612351 Q8IW92 GLBL2_HUMAN galactosidase, beta 1-like 2 precursor carbohydrate metabolic process extracellular region cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds ovary(1)|pancreas(1)|skin(1) 3 all_hematologic(175;0.127) all_cancers(12;2.85e-18)|all_epithelial(12;1.21e-12)|all_lung(97;0.000276)|Lung NSC(97;0.000518)|Breast(109;0.00122)|Medulloblastoma(222;0.0399)|all_neural(223;0.0412)|Esophageal squamous(93;0.0844) Epithelial(10;1.37e-11)|all cancers(11;2.2e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000885)|Lung(977;0.223) TGTCTTTCCAGGCTGGACTGG 0.637 10 10 --- --- --- --- PASS IQSEC3 440073 broad.mit.edu 37 12 247987 247987 + Silent SNP G T T TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr12:247987G>T uc001qhw.1 + 1 555 c.549G>T c.(547-549)CGG>CGT p.R183R IQSEC3_uc001qhu.1_Silent_p.R183R|IQSEC3_uc001qht.1_Silent_p.R268R|uc001qhv.1_Intron NM_015232 NP_056047 Q9UPP2 IQEC3_HUMAN IQ motif and Sec7 domain 3 486 regulation of ARF protein signal transduction cytoplasm ARF guanyl-nucleotide exchange factor activity central_nervous_system(2)|large_intestine(1)|skin(1) 4 all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031) OV - Ovarian serous cystadenocarcinoma(31;0.00456) LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179) TGGCTTTCCGGGACGTCACGG 0.567 7 7 --- --- --- --- PASS SLC6A13 6540 broad.mit.edu 37 12 330116 330116 + Nonstop_Mutation SNP A G G TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr12:330116A>G uc001qic.1 - 15 1860 c.1807T>C c.(1807-1809)TAG>CAG p.*603Q SLC6A13_uc009zdj.1_Nonstop_Mutation_p.*593Q|SLC6A13_uc010sdl.1_Nonstop_Mutation_p.*511Q NM_016615 NP_057699 Q9NSD5 S6A13_HUMAN solute carrier family 6 (neurotransmitter 603 neurotransmitter secretion integral to plasma membrane gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity 0 all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142) OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239) CCTGCCCCCTAGCAGTGAGAC 0.677 4 12 --- --- --- --- PASS LAG3 3902 broad.mit.edu 37 12 6884475 6884475 + Missense_Mutation SNP G T T TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr12:6884475G>T uc001qqt.3 + 5 1167 c.818G>T c.(817-819)GGA>GTA p.G273V LAG3_uc001qqs.2_Missense_Mutation_p.G273V|LAG3_uc001qqu.2_Missense_Mutation_p.G103V NM_002286 NP_002277 P18627 LAG3_HUMAN lymphocyte-activation protein 3 precursor 273 Extracellular (Potential).|Ig-like C2-type 2. integral to membrane antigen binding|MHC class II protein binding 0 GTGTACGCTGGAGCAGGTTCC 0.627 26 58 --- --- --- --- PASS TAS2R19 259294 broad.mit.edu 37 12 11174863 11174863 + Missense_Mutation SNP C A A TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr12:11174863C>A uc010shj.1 - 1 308 c.308G>T c.(307-309)AGC>ATC p.S103I PRR4_uc009zhp.2_Intron|PRH1_uc001qzb.3_Intron|PRH1_uc001qzc.2_Intron|PRB4_uc001qzf.1_Intron|PRH1_uc001qzj.2_Intron NM_176888 NP_795369 P59542 T2R19_HUMAN taste receptor, type 2, member 19 103 Helical; Name=3; (Potential). sensory perception of taste integral to membrane G-protein coupled receptor activity skin(1) 1 ACAAAATATGCTGAGGCTAGC 0.408 24 72 --- --- --- --- PASS PRB2 653247 broad.mit.edu 37 12 11546701 11546701 + Missense_Mutation SNP T A A TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr12:11546701T>A uc010shk.1 - 3 346 c.311A>T c.(310-312)CAA>CTA p.Q104L NM_006248 NP_006239 proline-rich protein BstNI subfamily 2 0 all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09) OV - Ovarian serous cystadenocarcinoma(49;0.185) CTTGTCTCCTTGTGGGGGTGG 0.617 9 450 --- --- --- --- PASS SLCO1B3 28234 broad.mit.edu 37 12 21069129 21069129 + Missense_Mutation SNP C G G TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr12:21069129C>G uc001rek.2 + 15 2183 c.2057C>G c.(2056-2058)ACA>AGA p.T686R SLCO1B3_uc001rel.2_Missense_Mutation_p.T686R|SLCO1B3_uc010sil.1_Intron|LST-3TM12_uc010sim.1_Intron NM_019844 NP_062818 Q9NPD5 SO1B3_HUMAN solute carrier organic anion transporter family, 686 Cytoplasmic (Potential). bile acid metabolic process|sodium-independent organic anion transport basolateral plasma membrane|cytoplasm|integral to plasma membrane bile acid transmembrane transporter activity|organic anion transmembrane transporter activity large_intestine(2)|ovary(1)|skin(1) 4 Esophageal squamous(101;0.149) TCTGCTGGAACAGATAGTAAA 0.353 13 29 --- --- --- --- PASS ITPR2 3709 broad.mit.edu 37 12 26775186 26775186 + Missense_Mutation SNP T C C TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr12:26775186T>C uc001rhg.2 - 25 3692 c.3275A>G c.(3274-3276)CAG>CGG p.Q1092R NM_002223 NP_002214 Q14571 ITPR2_HUMAN inositol 1,4,5-triphosphate receptor, type 2 1092 Cytoplasmic (Potential). activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity kidney(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1) 14 Colorectal(261;0.0847) CTTAAATGCCTGTAAAACCTC 0.488 3 42 --- --- --- --- PASS CCDC91 55297 broad.mit.edu 37 12 28515395 28515395 + Missense_Mutation SNP G T T TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr12:28515395G>T uc001riq.2 + 6 617 c.601G>T c.(601-603)GAC>TAC p.D201Y CCDC91_uc001rio.2_Missense_Mutation_p.D171Y|CCDC91_uc009zjk.2_RNA|CCDC91_uc001rip.1_Missense_Mutation_p.D201Y|CCDC91_uc001rir.2_Missense_Mutation_p.D39Y|CCDC91_uc009zjl.2_Missense_Mutation_p.D39Y NM_018318 NP_060788 Q7Z6B0 CCD91_HUMAN GGA binding partner 201 Potential. protein transport Golgi apparatus|membrane central_nervous_system(1) 1 Acute lymphoblastic leukemia(23;0.00718)|all_hematologic(23;0.0113)|Lung SC(9;0.184) AGAATTGGAAGACATGAGGAA 0.303 6 4 --- --- --- --- PASS ABCD2 225 broad.mit.edu 37 12 39967558 39967558 + Nonsense_Mutation SNP C A A TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr12:39967558C>A uc001rmb.2 - 9 2389 c.1963G>T c.(1963-1965)GGA>TGA p.G655* NM_005164 NP_005155 Q9UBJ2 ABCD2_HUMAN ATP-binding cassette, sub-family D, member 2 655 ABC transporter. fatty acid metabolic process|transport ATP-binding cassette (ABC) transporter complex|integral to plasma membrane|peroxisomal membrane ATP binding|ATPase activity|protein binding ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)|central_nervous_system(1)|skin(1) 6 AAGGAAATTCCAGCCCCTTTT 0.368 10 67 --- --- --- --- PASS CNTN1 1272 broad.mit.edu 37 12 41318436 41318436 + Missense_Mutation SNP C A A TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr12:41318436C>A uc001rmm.1 + 6 591 c.478C>A c.(478-480)CCC>ACC p.P160T CNTN1_uc009zjy.1_Missense_Mutation_p.P160T|CNTN1_uc001rmn.1_Missense_Mutation_p.P149T|CNTN1_uc001rmo.2_Missense_Mutation_p.P160T NM_001843 NP_001834 Q12860 CNTN1_HUMAN contactin 1 isoform 1 precursor 160 Ig-like C2-type 2. axon guidance|cell adhesion|Notch signaling pathway anchored to membrane|membrane fraction|plasma membrane lung(4)|ovary(3)|large_intestine(1)|skin(1) 9 all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716) Lung NSC(34;0.0211)|all_lung(34;0.0294) TCTCTGTGACCCCCCATACCA 0.383 8 28 --- --- --- --- PASS RPAP3 79657 broad.mit.edu 37 12 48090107 48090107 + Missense_Mutation SNP T G G TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr12:48090107T>G uc001rpr.2 - 5 613 c.497A>C c.(496-498)AAT>ACT p.N166T RPAP3_uc010slk.1_Missense_Mutation_p.N7T|RPAP3_uc001rps.2_Missense_Mutation_p.N166T NM_024604 NP_078880 Q9H6T3 RPAP3_HUMAN RNA polymerase II associated protein 3 isoform 166 TPR 2. binding ovary(1) 1 Lung SC(27;0.192) CAACACGGGATTATATGGATC 0.358 17 50 --- --- --- --- PASS MIR1291 100302221 broad.mit.edu 37 12 49048286 49048286 + RNA SNP C T T TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr12:49048286C>T hsa-mir-1291|MI0006353 - c.28C>T C12orf41_uc001rrw.2_Intron|C12orf41_uc001rrz.2_Intron|C12orf41_uc001rrx.2_Intron|C12orf41_uc001rry.2_Intron|C12orf41_uc001rru.2_Intron|C12orf41_uc001rrv.2_Intron|SNORA34_uc001rsa.1_RNA 0 AACTGCTGGTCTTCAGTCAGG 0.478 7 29 --- --- --- --- PASS MCRS1 10445 broad.mit.edu 37 12 49952448 49952448 + Missense_Mutation SNP G T T TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr12:49952448G>T uc001ruk.1 - 15 1558 c.1367C>A c.(1366-1368)GCT>GAT p.A456D MCRS1_uc001rui.1_Missense_Mutation_p.A469D|MCRS1_uc001ruj.1_Missense_Mutation_p.A443D|MCRS1_uc001rul.1_Missense_Mutation_p.A456D|MCRS1_uc009zlj.1_Missense_Mutation_p.A265D|MCRS1_uc001rum.1_Missense_Mutation_p.A443D NM_006337 NP_006328 Q96EZ8 MCRS1_HUMAN microspherule protein 1 isoform 1 456 DNA recombination|DNA repair|protein modification process|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|Ino80 complex|MLL1 complex|nucleolus protein binding large_intestine(1) 1 GATCTTGGCAGCCTCAGCCCT 0.602 22 30 --- --- --- --- PASS KRT3 3850 broad.mit.edu 37 12 53189723 53189723 + Missense_Mutation SNP G T T TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr12:53189723G>T uc001say.2 - 1 170 c.104C>A c.(103-105)TCT>TAT p.S35Y NM_057088 NP_476429 P12035 K2C3_HUMAN keratin 3 35 Gly-rich.|Head. epithelial cell differentiation|intermediate filament cytoskeleton organization keratin filament structural molecule activity 0 AGCTCCCCCAGAGTGGGCCAC 0.647 10 25 --- --- --- --- PASS EIF4B 1975 broad.mit.edu 37 12 53410353 53410353 + Missense_Mutation SNP C A A TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr12:53410353C>A uc001sbh.3 + 2 316 c.110C>A c.(109-111)CCA>CAA p.P37Q EIF4B_uc009zmp.1_RNA|EIF4B_uc010snu.1_Missense_Mutation_p.P37Q|EIF4B_uc010snv.1_Missense_Mutation_p.P37Q|EIF4B_uc001sbi.2_5'UTR NM_001417 NP_001408 P23588 IF4B_HUMAN eukaryotic translation initiation factor 4B 37 insulin receptor signaling pathway|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation cytosol|eukaryotic translation initiation factor 4F complex nucleotide binding|translation initiation factor activity breast(1)|kidney(1) 2 GTTTCCAAACCAGTCAGCTGG 0.423 7 54 --- --- --- --- PASS NEUROD4 58158 broad.mit.edu 37 12 55421039 55421039 + Missense_Mutation SNP C A A TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr12:55421039C>A uc001sgp.3 + 2 1194 c.816C>A c.(814-816)GAC>GAA p.D272E NM_021191 NP_067014 Q9HD90 NDF4_HUMAN neurogenic differentiation 4 272 amacrine cell differentiation|positive regulation of cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding ovary(3)|skin(1) 4 GGTCTCCTGACCTAGAAAAAT 0.522 41 146 --- --- --- --- PASS OR10P1 121130 broad.mit.edu 37 12 56031355 56031355 + Missense_Mutation SNP T C C TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr12:56031355T>C uc010spq.1 + 1 680 c.680T>C c.(679-681)CTA>CCA p.L227P NM_206899 NP_996782 Q8NGE3 O10P1_HUMAN olfactory receptor, family 10, subfamily P, 227 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|pancreas(1) 2 GGTGCCATCCTAGCAATGGCC 0.552 19 53 --- --- --- --- PASS KIF5A 3798 broad.mit.edu 37 12 57957891 57957891 + Nonsense_Mutation SNP G T T TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr12:57957891G>T uc001sor.1 + 4 500 c.292G>T c.(292-294)GGA>TGA p.G98* KIF5A_uc010srr.1_Intron NM_004984 NP_004975 Q12840 KIF5A_HUMAN kinesin family member 5A 98 Kinesin-motor. blood coagulation|cell death|microtubule-based movement|synaptic transmission cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm ATP binding|microtubule motor activity ovary(2)|skin(1) 3 CACTCGCCAGGGAAAGCTGCA 0.488 4 33 --- --- --- --- PASS CAND1 55832 broad.mit.edu 37 12 67700314 67700314 + Missense_Mutation SNP G C C TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr12:67700314G>C uc001stn.2 + 10 3303 c.2866G>C c.(2866-2868)GGA>CGA p.G956R CAND1_uc001sto.2_Missense_Mutation_p.G466R NM_018448 NP_060918 Q86VP6 CAND1_HUMAN TIP120 protein 956 HEAT 22. cell differentiation|negative regulation of catalytic activity|protein ubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|ubiquitin ligase complex protein binding central_nervous_system(1)|skin(1) 2 GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196) GBM - Glioblastoma multiforme(28;0.0279) TGAATGTCTAGGAAAACTCAC 0.393 17 35 --- --- --- --- PASS RAB3IP 117177 broad.mit.edu 37 12 70150440 70150440 + Missense_Mutation SNP G T T TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr12:70150440G>T uc001svp.2 + 3 1002 c.555G>T c.(553-555)CAG>CAT p.Q185H RAB3IP_uc001svl.1_Missense_Mutation_p.Q169H|RAB3IP_uc001svm.2_Missense_Mutation_p.Q169H|RAB3IP_uc001svn.2_Missense_Mutation_p.Q169H|RAB3IP_uc001svo.2_RNA|RAB3IP_uc001svq.2_Missense_Mutation_p.Q185H|RAB3IP_uc001svr.2_RNA|RAB3IP_uc001svs.2_RNA NM_175623 NP_783322 Q96QF0 RAB3I_HUMAN RAB3A interacting protein isoform alpha 2 185 Potential. cilium assembly|Golgi to plasma membrane transport|protein localization to organelle|protein transport actin cortical patch|centrosome|cytosol|lamellipodium|microtubule basal body|nucleus guanyl-nucleotide exchange factor activity|protein binding ovary(1) 1 Esophageal squamous(21;0.187) Lung(24;0.000381)|OV - Ovarian serous cystadenocarcinoma(12;0.00168)|STAD - Stomach adenocarcinoma(21;0.00694) CAAAAGCTCAGAGGGTAAGAA 0.373 8 57 --- --- --- --- PASS LGR5 8549 broad.mit.edu 37 12 71833879 71833879 + Missense_Mutation SNP G C C TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr12:71833879G>C uc001swl.2 + 1 67 c.19G>C c.(19-21)GGT>CGT p.G7R TSPAN8_uc001swk.1_Intron|LGR5_uc001swm.2_Missense_Mutation_p.G7R|LGR5_uc001swn.1_RNA NM_003667 NP_003658 O75473 LGR5_HUMAN leucine-rich repeat-containing G protein-coupled 7 integral to plasma membrane protein-hormone receptor activity lung(4)|skin(3)|ovary(1)|pancreas(1) 9 CTCCCGGCTCGGTGTGCTCCT 0.711 4 9 --- --- --- --- PASS TRHDE 29953 broad.mit.edu 37 12 72893378 72893378 + Missense_Mutation SNP A T T TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr12:72893378A>T uc001sxa.2 + 6 1580 c.1550A>T c.(1549-1551)GAT>GTT p.D517V NM_013381 NP_037513 Q9UKU6 TRHDE_HUMAN thyrotropin-releasing hormone degrading enzyme 517 Extracellular (Potential). cell-cell signaling|proteolysis|signal transduction integral to plasma membrane aminopeptidase activity|metallopeptidase activity|zinc ion binding ovary(2)|skin(1) 3 CAGGCAACAGATATTGACAGG 0.423 11 17 --- --- --- --- PASS NAV3 89795 broad.mit.edu 37 12 78513023 78513023 + Missense_Mutation SNP C A A TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr12:78513023C>A uc001syp.2 + 15 3220 c.3047C>A c.(3046-3048)ACC>AAC p.T1016N NAV3_uc001syo.2_Missense_Mutation_p.T1016N|NAV3_uc010sub.1_Missense_Mutation_p.T516N|NAV3_uc009zsf.2_Missense_Mutation_p.T24N NM_014903 NP_055718 Q8IVL0 NAV3_HUMAN neuron navigator 3 1016 nuclear outer membrane ATP binding|nucleoside-triphosphatase activity large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1) 17 TTAGGGAAAACCGATGATGCC 0.388 HNSCC(70;0.22) 29 94 --- --- --- --- PASS MYF5 4617 broad.mit.edu 37 12 81112685 81112685 + Missense_Mutation SNP C G G TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr12:81112685C>G uc001szg.2 + 3 758 c.623C>G c.(622-624)TCC>TGC p.S208C NM_005593 NP_005584 P13349 MYF5_HUMAN myogenic factor 5 208 muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development nucleoplasm DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity ovary(1) 1 GATTGCTTATCCAACATAGTG 0.453 18 53 --- --- --- --- PASS SLC6A15 55117 broad.mit.edu 37 12 85255584 85255584 + Missense_Mutation SNP T A A TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr12:85255584T>A uc001szv.2 - 12 2513 c.2020A>T c.(2020-2022)ACA>TCA p.T674S SLC6A15_uc010sul.1_Missense_Mutation_p.T567S|SLC6A15_uc001szw.1_3'UTR NM_182767 NP_877499 Q9H2J7 S6A15_HUMAN solute carrier family 6, member 15 isoform 1 674 Cytoplasmic (Potential). cellular nitrogen compound metabolic process|leucine transport|proline transport integral to plasma membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity pancreas(2)|ovary(1) 3 ATGAGGCTTGTATCATCGCCC 0.423 18 60 --- --- --- --- PASS ALX1 8092 broad.mit.edu 37 12 85674127 85674127 + Missense_Mutation SNP C T T TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr12:85674127C>T uc001tae.3 + 1 92 c.88C>T c.(88-90)CAC>TAC p.H30Y NM_006982 NP_008913 Q15699 ALX1_HUMAN cartilage paired-class homeoprotein 1 30 brain development|cartilage condensation|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter sequence-specific DNA binding transcription factor activity|transcription corepressor activity ovary(1)|central_nervous_system(1) 2 GBM - Glioblastoma multiforme(134;0.134) TCCTCTGGAGCACGTTATGGA 0.552 9 56 --- --- --- --- PASS SLC25A3 5250 broad.mit.edu 37 12 98989309 98989309 + Missense_Mutation SNP C A A TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr12:98989309C>A uc001tfo.2 + 3 376 c.256C>A c.(256-258)CTA>ATA p.L86I SLC25A3_uc001tfm.2_Intron|SLC25A3_uc001tfn.2_Intron|SLC25A3_uc001tfp.2_Intron|SLC25A3_uc001tfq.2_5'UTR|SLC25A3_uc001tfr.2_Missense_Mutation_p.L86I|SLC25A3_uc001tfs.2_5'UTR|SLC25A3_uc009ztn.2_Intron|SLC25A3_uc001tft.2_Intron NM_005888 NP_005879 Q00325 MPCP_HUMAN solute carrier family 25 member 3 isoform a 86 Helical; Name=1; (Potential).|Solcar 1. generation of precursor metabolites and energy integral to plasma membrane|mitochondrial inner membrane phosphate carrier activity|symporter activity 0 Lung NSC(355;4.08e-05)|Breast(359;0.00191)|Colorectal(145;0.00205)|Myeloproliferative disorder(1001;0.0255) GBM - Glioblastoma multiforme(134;1.36e-23)|BRCA - Breast invasive adenocarcinoma(302;0.000115) ATTGGTTCCTCTAGATCTGGT 0.398 5 67 --- --- --- --- PASS SCYL2 55681 broad.mit.edu 37 12 100732317 100732317 + Silent SNP G A A TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr12:100732317G>A uc001thn.2 + 18 2207 c.2157G>A c.(2155-2157)TTG>TTA p.L719L NM_017988 NP_060458 Q6P3W7 SCYL2_HUMAN SCY1-like 2 protein 719 Necessary for interaction with AP2 complex and clathrin, interaction with clathrin is necessary for its targeting to the TGN and endosomal membranes. endosome to lysosome transport|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of clathrin-mediated endocytosis|positive regulation of receptor internalization clathrin-coated vesicle|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm ATP binding|protein kinase activity|receptor binding lung(3)|ovary(2)|skin(1) 6 CTAAGGACTTGACAGACACAC 0.323 17 35 --- --- --- --- PASS SLC17A8 246213 broad.mit.edu 37 12 100806574 100806574 + Missense_Mutation SNP C A A rs138338989 TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr12:100806574C>A uc010svi.1 + 10 1526 c.1213C>A c.(1213-1215)CTG>ATG p.L405M SLC17A8_uc009ztx.2_Missense_Mutation_p.L355M NM_139319 NP_647480 Q8NDX2 VGLU3_HUMAN solute carrier family 17 (sodium-dependent 405 Helical; (Potential). neurotransmitter transport|sensory perception of sound|sodium ion transport cell junction|integral to membrane|synaptic vesicle membrane|synaptosome L-glutamate transmembrane transporter activity|symporter activity ovary(3) 3 AACCTTACTCCTGGTGGTTGG 0.423 11 53 --- --- --- --- PASS NUP37 79023 broad.mit.edu 37 12 102468805 102468805 + Missense_Mutation SNP G T T TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr12:102468805G>T uc001tjc.2 - 8 906 c.841C>A c.(841-843)CAA>AAA p.Q281K NM_024057 NP_076962 Q8NFH4 NUP37_HUMAN nucleoporin 37kDa 281 carbohydrate metabolic process|cell division|chromosome segregation|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytosol|Nup107-160 complex protein binding ovary(1) 1 TGATGAATTTGAAACTGGCTT 0.348 15 26 --- --- --- --- PASS RNFT2 84900 broad.mit.edu 37 12 117287248 117287248 + Missense_Mutation SNP T C C TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr12:117287248T>C uc009zwn.2 + 11 1563 c.1330T>C c.(1330-1332)TAC>CAC p.Y444H RNFT2_uc001twb.3_Intron|RNFT2_uc001twa.3_Intron|RNFT2_uc001twc.3_Missense_Mutation_p.Y192H|RNFT2_uc001twd.2_5'Flank NM_001109903 NP_001103373 Q96EX2 RNFT2_HUMAN transmembrane protein 118 isoform 1 444 Extracellular (Potential). integral to membrane zinc ion binding 0 all_neural(191;0.117)|Medulloblastoma(191;0.163) BRCA - Breast invasive adenocarcinoma(302;0.034) CTTCCAGGTGTACTAGGACCG 0.667 5 6 --- --- --- --- PASS NOS1 4842 broad.mit.edu 37 12 117672400 117672400 + Nonsense_Mutation SNP C A A TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr12:117672400C>A uc001twm.1 - 21 3891 c.3205G>T c.(3205-3207)GAA>TAA p.E1069* NM_000620 NP_000611 P29475 NOS1_HUMAN nitric oxide synthase 1, neuronal 1069 FAD-binding FR-type. multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding ovary(3)|skin(3)|pancreas(1) 7 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.0561) L-Citrulline(DB00155) TCCAGCAGTTCCACTTTCACC 0.607 8 30 --- --- --- --- PASS SLC15A4 121260 broad.mit.edu 37 12 129299466 129299466 + Nonsense_Mutation SNP G T T TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr12:129299466G>T uc001uhu.2 - 2 749 c.696C>A c.(694-696)TGC>TGA p.C232* SLC15A4_uc001uhv.2_RNA|MGC16384_uc001uhw.2_5'Flank NM_145648 NP_663623 Q8N697 S15A4_HUMAN solute carrier family 15, member 4 232 Helical; (Potential). oligopeptide transport|protein transport integral to membrane|lysosomal membrane peptide:hydrogen symporter activity 0 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.69e-06)|Epithelial(86;1.17e-05)|all cancers(50;5.07e-05) CAAGGCCGACGCAGACAGTGG 0.517 31 81 --- --- --- --- PASS TMEM132D 121256 broad.mit.edu 37 12 129569127 129569127 + Missense_Mutation SNP G A A TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr12:129569127G>A uc009zyl.1 - 6 1892 c.1564C>T c.(1564-1566)CCC>TCC p.P522S TMEM132D_uc001uia.2_Missense_Mutation_p.P60S NM_133448 NP_597705 Q14C87 T132D_HUMAN transmembrane protein 132D precursor 522 Extracellular (Potential). integral to membrane ovary(10)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1) 14 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.0934)|Breast(359;0.133) OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246) GGAAGCCGGGGCACCCACACC 0.577 6 20 --- --- --- --- PASS TMEM132D 121256 broad.mit.edu 37 12 129822289 129822289 + Missense_Mutation SNP G C C TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr12:129822289G>C uc009zyl.1 - 4 1517 c.1189C>G c.(1189-1191)CAG>GAG p.Q397E NM_133448 NP_597705 Q14C87 T132D_HUMAN transmembrane protein 132D precursor 397 Extracellular (Potential). integral to membrane ovary(10)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1) 14 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.0934)|Breast(359;0.133) OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246) GTGACCAGCTGTGTGGCTGGC 0.572 16 91 --- --- --- --- PASS PABPC3 5042 broad.mit.edu 37 13 25671601 25671601 + Missense_Mutation SNP T C C TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr13:25671601T>C uc001upy.2 + 1 1326 c.1265T>C c.(1264-1266)ATT>ACT p.I422T NM_030979 NP_112241 Q9H361 PABP3_HUMAN poly(A) binding protein, cytoplasmic 3 422 mRNA metabolic process cytoplasm nucleotide binding|poly(A) RNA binding ovary(3)|skin(1) 4 Lung SC(185;0.0225)|Breast(139;0.0602) all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241) CCTAGCCAAATTGCTCGACTA 0.537 48 98 --- --- --- --- PASS BRCA2 675 broad.mit.edu 37 13 32911471 32911471 + Missense_Mutation SNP G C C rs80358544 TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr13:32911471G>C uc001uub.1 + 11 3206 c.2979G>C c.(2977-2979)TGG>TGC p.W993C NM_000059 NP_000050 P51587 BRCA2_HUMAN breast cancer 2, early onset 993 Interaction with NPM1. cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding ovary(20)|endometrium(8)|lung(7)|breast(7)|oesophagus(5)|large_intestine(4)|central_nervous_system(3)|pancreas(3)|skin(2)|upper_aerodigestive_tract(1)|cervix(1)|salivary_gland(1)|liver(1)|kidney(1) 64 Lung SC(185;0.0262) all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704) TGAACAAATGGGCAGGACTCT 0.333 D|Mis|N|F|S breast|ovarian|pancreatic breast|ovarian|pancreatic|leukemia (FANCB|FANCD1) Direct_reversal_of_damage|Homologous_recombination Fanconi_Anemia_type_D1_bi-allelic_BRCA2_mutations|Fanconi_Anemia|Pancreatic_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_BRCA2_type|Hereditary_Prostate_Cancer|Li-Fraumeni_syndrome TCGA Ovarian(8;0.087) 18 32 --- --- --- --- PASS HTR2A 3356 broad.mit.edu 37 13 47409740 47409740 + Missense_Mutation SNP C A A TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr13:47409740C>A uc001vbq.2 - 3 782 c.648G>T c.(646-648)CAG>CAT p.Q216H HTR2A_uc001vbr.2_Missense_Mutation_p.Q116H|HTR2A_uc010acr.2_Missense_Mutation_p.Q216H NM_000621 NP_000612 P28223 5HT2A_HUMAN 5-hydroxytryptamine receptor 2A isoform 1 216 Extracellular (By similarity). ERK1 and ERK2 cascade|phosphatidylinositol 3-kinase cascade|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission integral to plasma membrane 1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|serotonin binding|serotonin receptor activity ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 6 all_lung(13;7.2e-10)|Lung NSC(96;3.77e-07)|Breast(56;2.06e-05)|Prostate(109;0.00116)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|Myeloproliferative disorder(33;0.0333) GBM - Glioblastoma multiforme(144;4.67e-05)|COAD - Colon adenocarcinoma(199;0.224) Aripiprazole(DB01238)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cisapride(DB00604)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyclobenzaprine(DB00924)|Cyproheptadine(DB00434)|Dihydroergotamine(DB00320)|Donepezil(DB00843)|Epinastine(DB00751)|Ergotamine(DB00696)|Fluvoxamine(DB00176)|Mesoridazine(DB00933)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Olanzapine(DB00334)|Paliperidone(DB01267)|Paroxetine(DB00715)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246) TCGAATCGTCCTGTAGCCCAA 0.403 6 44 --- --- --- --- PASS PCDH8 5100 broad.mit.edu 37 13 53422133 53422133 + Missense_Mutation SNP C A A TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr13:53422133C>A uc001vhi.2 - 1 642 c.439G>T c.(439-441)GGT>TGT p.G147C PCDH8_uc001vhj.2_Missense_Mutation_p.G147C NM_002590 NP_002581 O95206 PCDH8_HUMAN protocadherin 8 isoform 1 precursor 147 Extracellular (Potential).|Cadherin 2. cell-cell signaling|homophilic cell adhesion cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane calcium ion binding breast(1) 1 Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173) GBM - Glioblastoma multiforme(99;2.19e-08) ACTGCCGCACCCTCGGACACC 0.716 10 6 --- --- --- --- PASS DOCK9 23348 broad.mit.edu 37 13 99489835 99489835 + Silent SNP C A A TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr13:99489835C>A uc001vnt.2 - 39 4216 c.4161G>T c.(4159-4161)CTG>CTT p.L1387L DOCK9_uc001vnw.2_Silent_p.L1386L|DOCK9_uc001vnv.1_RNA|DOCK9_uc010tir.1_Silent_p.L1387L|DOCK9_uc001vnq.2_5'UTR|DOCK9_uc001vnr.2_Silent_p.L30L|DOCK9_uc010tin.1_Silent_p.L30L|DOCK9_uc001vns.2_5'UTR|DOCK9_uc010tio.1_Silent_p.L79L|DOCK9_uc010tip.1_Silent_p.L97L|DOCK9_uc001vnu.1_5'UTR|DOCK9_uc010tiq.1_Silent_p.L365L NM_015296 NP_056111 Q9BZ29 DOCK9_HUMAN dedicator of cytokinesis 9 isoform a 1387 blood coagulation cytosol|endomembrane system|membrane GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity central_nervous_system(1) 1 all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) ATGACTGGTGCAGAACATCTG 0.478 10 21 --- --- --- --- PASS BIVM 54841 broad.mit.edu 37 13 103492203 103492203 + Missense_Mutation SNP T A A TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr13:103492203T>A uc001vps.2 + 11 2179 c.1500T>A c.(1498-1500)GAT>GAA p.D500E BIVM_uc010agc.2_Missense_Mutation_p.D278E|ERCC5_uc001vpu.1_Intron|BIVM_uc001vpv.2_Missense_Mutation_p.D271E NM_017693 NP_060163 Q86UB2 BIVM_HUMAN basic, immunoglobulin-like variable motif 500 cytoplasm|nucleus 0 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211) GTGATTACGATGGGAATGATT 0.403 29 59 --- --- --- --- PASS BIVM 54841 broad.mit.edu 37 13 103492204 103492204 + Missense_Mutation SNP G T T TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr13:103492204G>T uc001vps.2 + 11 2180 c.1501G>T c.(1501-1503)GGG>TGG p.G501W BIVM_uc010agc.2_Missense_Mutation_p.G279W|ERCC5_uc001vpu.1_Intron|BIVM_uc001vpv.2_Missense_Mutation_p.G272W NM_017693 NP_060163 Q86UB2 BIVM_HUMAN basic, immunoglobulin-like variable motif 501 cytoplasm|nucleus 0 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211) TGATTACGATGGGAATGATTG 0.403 30 57 --- --- --- --- PASS ABHD13 84945 broad.mit.edu 37 13 108882199 108882199 + Silent SNP A C C TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr13:108882199A>C uc001vqq.2 + 2 898 c.633A>C c.(631-633)TCA>TCC p.S211S NM_032859 NP_116248 Q7L211 ABHDD_HUMAN abhydrolase domain containing 13 211 integral to membrane hydrolase activity ovary(2)|upper_aerodigestive_tract(1) 3 all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104) ATAGGATTTCAGCCATTATGG 0.388 17 16 --- --- --- --- PASS RASA3 22821 broad.mit.edu 37 13 114784270 114784270 + Missense_Mutation SNP C A A rs151265782 TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr13:114784270C>A uc001vui.2 - 10 1042 c.911G>T c.(910-912)CGG>CTG p.R304L RASA3_uc010tkk.1_Missense_Mutation_p.R272L|RASA3_uc001vuj.2_5'UTR|RASA3_uc010tkl.1_RNA NM_007368 NP_031394 Q14644 RASA3_HUMAN RAS p21 protein activator 3 304 intracellular signal transduction|negative regulation of Ras protein signal transduction cytoplasm|intrinsic to internal side of plasma membrane calcium-release channel activity|metal ion binding|Ras GTPase activator activity lung(3)|skin(1) 4 Lung NSC(43;0.00814)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.016)|all_epithelial(44;0.00577)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.188) BRCA - Breast invasive adenocarcinoma(86;0.128) CAGCAGGTCCCGCAGAGGGCT 0.612 15 15 --- --- --- --- PASS OXA1L 5018 broad.mit.edu 37 14 23239049 23239049 + Missense_Mutation SNP G C C TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr14:23239049G>C uc001wgn.2 + 4 669 c.669G>C c.(667-669)CAG>CAC p.Q223H OXA1L_uc001wgo.2_RNA|OXA1L_uc010akc.2_Missense_Mutation_p.Q223H|OXA1L_uc001wgp.2_Missense_Mutation_p.Q147H|OXA1L_uc001wgq.2_5'UTR NM_005015 NP_005006 Q15070 OXA1L_HUMAN oxidase (cytochrome c) assembly 1-like 163 Mitochondrial intermembrane (Potential). aerobic respiration|mitochondrial proton-transporting ATP synthase complex assembly|mitochondrial respiratory chain complex I assembly|negative regulation of ATPase activity|negative regulation of oxidoreductase activity|protein insertion into membrane|protein tetramerization integral to mitochondrial membrane|mitochondrial respiratory chain|protein complex protein homodimerization activity|ribosome binding central_nervous_system(1) 1 all_cancers(95;8.44e-05) GBM - Glioblastoma multiforme(265;0.0096) TGACGGGCCAGCGAGAGGCAG 0.483 13 428 --- --- --- --- PASS HOMEZ 57594 broad.mit.edu 37 14 23745067 23745067 + Missense_Mutation SNP G C C TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr14:23745067G>C uc001wja.2 - 2 1518 c.1370C>G c.(1369-1371)CCT>CGT p.P457R HOMEZ_uc001wjb.2_Missense_Mutation_p.P459R NM_020834 NP_065885 Q8IX15 HOMEZ_HUMAN homeodomain leucine zipper protein 457 Pro-rich. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 all_cancers(95;5.54e-06) GBM - Glioblastoma multiforme(265;0.00643) TGGGGGTGGAGGGATCGGCAG 0.557 5 18 --- --- --- --- PASS DHRS4L1 728635 broad.mit.edu 37 14 24517437 24517437 + Splice_Site SNP T A A TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr14:24517437T>A uc010alc.2 + 6 488 c.488_splice c.e6+2 p.G163_splice DHRS4L1_uc010tnu.1_RNA NM_001082488 NP_001075957 P0CG22 DR4L1_HUMAN dehydrogenase/reductase (SDR family) member 4 binding|oxidoreductase activity 0 GAAACGAGGGTACAGAGAGTG 0.527 7 35 --- --- --- --- PASS G2E3 55632 broad.mit.edu 37 14 31055950 31055950 + Missense_Mutation SNP G A A TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr14:31055950G>A uc001wqk.2 + 3 218 c.64G>A c.(64-66)GAC>AAC p.D22N G2E3_uc010tpe.1_5'UTR|G2E3_uc010tpf.1_5'UTR NM_017769 NP_060239 Q7L622 G2E3_HUMAN G2/M-phase specific E3 ubiquitin ligase 22 apoptosis|multicellular organismal development|protein modification process Golgi apparatus|nucleolus acid-amino acid ligase activity|protein binding|zinc ion binding ovary(2)|skin(1) 3 AAAACATGATGACTGTCCTAA 0.274 6 19 --- --- --- --- PASS SEC23A 10484 broad.mit.edu 37 14 39514366 39514366 + Splice_Site SNP C A A TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr14:39514366C>A uc001wup.1 - 16 2122 c.1899_splice c.e16+1 p.E633_splice SEC23A_uc010tqa.1_Splice_Site_p.E519_splice|SEC23A_uc010tqb.1_Splice_Site_p.E604_splice NM_006364 NP_006355 Q15436 SC23A_HUMAN SEC23-related protein A COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine COPII vesicle coat|cytosol|Golgi membrane|smooth endoplasmic reticulum membrane protein binding|zinc ion binding ovary(4)|upper_aerodigestive_tract(1) 5 Hepatocellular(127;0.213) Lung(238;0.00047)|LUAD - Lung adenocarcinoma(48;0.000565) GBM - Glioblastoma multiforme(112;0.0151) GTCCCTCTTACCTCTGGTGGT 0.333 7 37 --- --- --- --- PASS FSCB 84075 broad.mit.edu 37 14 44975700 44975700 + Missense_Mutation SNP A G G TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr14:44975700A>G uc001wvn.2 - 1 800 c.491T>C c.(490-492)ATA>ACA p.I164T NM_032135 NP_115511 Q5H9T9 FSCB_HUMAN fibrous sheath CABYR binding protein 164 cilium lung(3)|breast(3)|ovary(2)|central_nervous_system(1) 9 GBM - Glioblastoma multiforme(112;0.128) AATAACCACTATTTCTGATTC 0.428 15 75 --- --- --- --- PASS C14orf106 55320 broad.mit.edu 37 14 45687519 45687519 + Silent SNP A G G TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr14:45687519A>G uc001wwf.2 - 12 3267 c.2808T>C c.(2806-2808)ACT>ACC p.T936T NM_018353 NP_060823 Q6P0N0 M18BP_HUMAN chromosome 14 open reading frame 106 936 cell division|CenH3-containing nucleosome assembly at centromere|mitosis chromosome, centromeric region|nucleoplasm DNA binding 0 GCTTCTTCTTAGTGACATGTT 0.428 4 37 --- --- --- --- PASS MDGA2 161357 broad.mit.edu 37 14 47530539 47530539 + Missense_Mutation SNP C A A TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr14:47530539C>A uc001wwj.3 - 7 1427 c.1231G>T c.(1231-1233)GAT>TAT p.D411Y MDGA2_uc001wwi.3_Missense_Mutation_p.D182Y|MDGA2_uc010ani.2_5'UTR NM_001113498 NP_001106970 Q7Z553 MDGA2_HUMAN MAM domain containing 1 isoform 1 411 Ig-like 4. spinal cord motor neuron differentiation anchored to membrane|plasma membrane ovary(4)|large_intestine(1)|pancreas(1) 6 GTCCCAAAATCCGTGAATTTT 0.418 19 66 --- --- --- --- PASS NIN 51199 broad.mit.edu 37 14 51223968 51223968 + Missense_Mutation SNP G T T TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr14:51223968G>T uc001wym.2 - 18 3971 c.3780C>A c.(3778-3780)GAC>GAA p.D1260E NIN_uc001wyi.2_Missense_Mutation_p.D1260E|NIN_uc001wyj.2_Intron|NIN_uc001wyk.2_Intron|NIN_uc010tqp.1_Missense_Mutation_p.D1266E|NIN_uc001wyo.2_Missense_Mutation_p.D1260E NM_182946 NP_891991 Q8N4C6 NIN_HUMAN ninein isoform 5 1260 Potential. centrosome localization centrosome|microtubule calcium ion binding|GTP binding|protein binding skin(3)|ovary(1)|kidney(1)|central_nervous_system(1) 6 all_epithelial(31;0.00244)|Breast(41;0.127) CCTGAAGGCAGTCATTTTCTC 0.433 T PDGFRB MPD 12 77 --- --- --- --- PASS NID2 22795 broad.mit.edu 37 14 52520461 52520461 + Missense_Mutation SNP G T T TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr14:52520461G>T uc001wzo.2 - 5 1499 c.1265C>A c.(1264-1266)CCC>CAC p.P422H NID2_uc010tqs.1_Missense_Mutation_p.P422H|NID2_uc010tqt.1_Missense_Mutation_p.P422H|NID2_uc001wzp.2_Missense_Mutation_p.P422H NM_007361 NP_031387 Q14112 NID2_HUMAN nidogen 2 precursor 422 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) ATCTGGGTAGGGCTGGATGCT 0.547 7 34 --- --- --- --- PASS SLC10A1 6554 broad.mit.edu 37 14 70245071 70245071 + Nonsense_Mutation SNP C A A TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr14:70245071C>A uc001xlr.2 - 4 1056 c.922G>T c.(922-924)GAG>TAG p.E308* NM_003049 NP_003040 Q14973 NTCP_HUMAN solute carrier family 10, member 1 308 bile acid metabolic process|organic anion transport integral to plasma membrane bile acid:sodium symporter activity ovary(1) 1 all cancers(60;0.00228)|BRCA - Breast invasive adenocarcinoma(234;0.0137)|OV - Ovarian serous cystadenocarcinoma(108;0.0226) TTGAATTTCTCATAGCACCAA 0.448 6 118 --- --- --- --- PASS RGS6 9628 broad.mit.edu 37 14 72944990 72944990 + Missense_Mutation SNP C A A TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr14:72944990C>A uc001xna.3 + 12 1330 c.807C>A c.(805-807)AAC>AAA p.N269K RGS6_uc010ttn.1_Missense_Mutation_p.N269K|RGS6_uc001xmx.3_Missense_Mutation_p.N269K|RGS6_uc010tto.1_RNA|RGS6_uc001xmy.3_Missense_Mutation_p.N269K|RGS6_uc010ttp.1_Missense_Mutation_p.N200K|RGS6_uc001xmz.1_Missense_Mutation_p.N130K NM_004296 NP_004287 P49758 RGS6_HUMAN regulator of G-protein signalling 6 269 G protein gamma. G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway cytoplasm|heterotrimeric G-protein complex GTPase activator activity|signal transducer activity upper_aerodigestive_tract(1)|lung(1)|skin(1) 3 all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476) CATTTTTGAACGCACAGATCG 0.343 5 20 --- --- --- --- PASS PROX2 283571 broad.mit.edu 37 14 75329286 75329286 + Missense_Mutation SNP C T T TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr14:75329286C>T uc001xqr.1 - 1 1252 c.1252G>A c.(1252-1254)GAA>AAA p.E418K PROX2_uc001xqq.1_Intron NM_001080408 NP_001073877 Q3B8N5 PROX2_HUMAN prospero homeobox 2 418 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding 0 KIRC - Kidney renal clear cell carcinoma(43;0.238) BRCA - Breast invasive adenocarcinoma(234;0.00652) CCTCTCTGTTCCATCTTCACC 0.468 7 60 --- --- --- --- PASS C14orf145 145508 broad.mit.edu 37 14 80993276 80993276 + Missense_Mutation SNP C A A TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr14:80993276C>A uc001xux.2 - 22 3180 c.3009G>T c.(3007-3009)AGG>AGT p.R1003S C14orf145_uc010asz.1_RNA NM_152446 NP_689659 Q6ZU80 CE128_HUMAN hypothetical protein LOC145508 1003 centriole|spindle pole 0 BRCA - Breast invasive adenocarcinoma(234;0.0586) TTCTGCGAACCCTGTATTTGG 0.348 7 19 --- --- --- --- PASS TRIP11 9321 broad.mit.edu 37 14 92488010 92488010 + Missense_Mutation SNP C T T TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr14:92488010C>T uc001xzy.2 - 4 1266 c.478G>A c.(478-480)GAT>AAT p.D160N NM_004239 NP_004230 Q15643 TRIPB_HUMAN thyroid hormone receptor interactor 11 160 Potential. transcription from RNA polymerase II promoter cytoskeleton|Golgi apparatus|membrane|nucleus protein binding|transcription coactivator activity ovary(6)|skin(2)|kidney(2)|central_nervous_system(1)|lung(1)|breast(1) 13 COAD - Colon adenocarcinoma(157;0.223) TCCATGTCATCGTCATGGAAA 0.438 T PDGFRB AML 15 25 --- --- --- --- PASS ATG2B 55102 broad.mit.edu 37 14 96775918 96775918 + Missense_Mutation SNP C A A TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr14:96775918C>A uc001yfi.2 - 29 4540 c.4175G>T c.(4174-4176)GGT>GTT p.G1392V NM_018036 NP_060506 Q96BY7 ATG2B_HUMAN ATG2 autophagy related 2 homolog B 1392 ovary(1)|kidney(1)|skin(1) 3 all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155) Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244) GGATGATCGACCACTGGAATC 0.368 8 45 --- --- --- --- PASS MIR655 724025 broad.mit.edu 37 14 101515983 101515983 + RNA SNP C T T TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr14:101515983C>T hsa-mir-655|MI0003677 + c.97C>T MIR487A_hsa-mir-487a|MI0002471_5'Flank 0 ATATCAGACTCTGCCTCGGAG 0.517 7 11 --- --- --- --- PASS RAGE 5891 broad.mit.edu 37 14 102698904 102698904 + Missense_Mutation SNP C A A TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr14:102698904C>A uc001ylm.2 - 9 1060 c.834G>T c.(832-834)CAG>CAT p.Q278H RAGE_uc010txv.1_Missense_Mutation_p.Q248H|RAGE_uc001yln.2_Missense_Mutation_p.Q96H|RAGE_uc001ylh.2_RNA|RAGE_uc001yli.2_RNA|RAGE_uc001yll.2_RNA|RAGE_uc001ylj.2_RNA|RAGE_uc001ylk.2_RNA NM_014226 NP_055041 Q9UQ07 MOK_HUMAN MAPK/MAK/MRK overlapping kinase 278 Protein kinase. signal transduction Golgi apparatus ATP binding|cyclin-dependent protein kinase activity|protein binding ovary(2)|breast(1)|central_nervous_system(1) 4 GCTGCAGGGCCTGGTGGGCGG 0.572 22 44 --- --- --- --- PASS ADAM6 8755 broad.mit.edu 37 14 106494219 106494219 + RNA SNP G A A TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr14:106494219G>A uc010tyt.1 - 1760 c.34779C>T Parts of antibodies, mostly variable regions. 0 AGGTGTCCTTGGTGATGGTGA 0.522 16 46 --- --- --- --- PASS ADAM6 8755 broad.mit.edu 37 14 106494220 106494220 + RNA SNP G T T TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr14:106494220G>T uc010tyt.1 - 1760 c.34778C>A Parts of antibodies, mostly variable regions. 0 GGTGTCCTTGGTGATGGTGAG 0.517 16 44 --- --- --- --- PASS ADAM6 8755 broad.mit.edu 37 14 106963072 106963072 + RNA SNP G T T TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr14:106963072G>T uc010tyt.1 - 207 c.9612C>A Parts of antibodies, mostly variable regions. 0 TGAAAGGTGTGATCCATCCCA 0.542 25 63 --- --- --- --- PASS NIPA1 123606 broad.mit.edu 37 15 23048951 23048951 + Missense_Mutation SNP C G G TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr15:23048951C>G uc001yvc.2 - 5 893 c.868G>C c.(868-870)GAC>CAC p.D290H NIPA1_uc001yvd.2_Missense_Mutation_p.D120H|NIPA1_uc001yve.2_Missense_Mutation_p.D215H NM_144599 NP_653200 Q7RTP0 NIPA1_HUMAN non-imprinted in Prader-Willi/Angelman syndrome 290 Extracellular (Potential). cell death early endosome|integral to membrane|plasma membrane 0 all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488) all cancers(64;4.18e-06)|Epithelial(43;3.97e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00165) CCCAAGAAGTCCACCAGGCCC 0.557 13 7 --- --- --- --- PASS RASGRP1 10125 broad.mit.edu 37 15 38794623 38794623 + Splice_Site SNP C T T TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr15:38794623C>T uc001zke.3 - 12 1607 c.1429_splice c.e12-1 p.S477_splice RASGRP1_uc010bbe.2_Splice_Site|RASGRP1_uc010bbf.2_Splice_Site_p.S304_splice|RASGRP1_uc010bbg.2_Splice_Site_p.S304_splice|RASGRP1_uc001zkd.3_Splice_Site_p.S442_splice NM_005739 NP_005730 O95267 GRP1_HUMAN RAS guanyl releasing protein 1 isoform a cell differentiation|platelet activation|Ras protein signal transduction|regulation of small GTPase mediated signal transduction cytosol|endoplasmic reticulum membrane|Golgi membrane|membrane fraction|plasma membrane calcium ion binding|guanyl-nucleotide exchange factor activity|lipid binding|protein binding large_intestine(1)|ovary(1) 2 all_cancers(109;6.38e-17)|all_epithelial(112;5.51e-15)|Lung NSC(122;2.12e-11)|all_lung(180;5.63e-10)|Melanoma(134;0.0574) GBM - Glioblastoma multiforme(113;1.97e-07)|BRCA - Breast invasive adenocarcinoma(123;0.00248) TGAAGACAGACTGTGAAAAAG 0.398 7 21 --- --- --- --- PASS PAK6 56924 broad.mit.edu 37 15 40564857 40564857 + Missense_Mutation SNP C A A TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr15:40564857C>A uc010bbl.2 + 6 1731 c.1291C>A c.(1291-1293)CGC>AGC p.R431S PAK6_uc010bbm.2_Missense_Mutation_p.R431S|PAK6_uc001zky.3_Missense_Mutation_p.R431S|PAK6_uc010bbn.2_Missense_Mutation_p.R431S|PAK6_uc001zlb.2_Missense_Mutation_p.R431S NM_001128628 NP_001122100 Q9NQU5 PAK6_HUMAN p21-activated kinase 6 431 Protein kinase. ATP binding|protein binding|protein serine/threonine kinase activity lung(5)|large_intestine(1)|ovary(1)|skin(1) 8 all_cancers(109;1.13e-18)|all_epithelial(112;1.62e-15)|Lung NSC(122;5.67e-11)|all_lung(180;1.41e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0823)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;1.51e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0544) GCACTCGGGCCGCCAGGTGGC 0.662 3 6 --- --- --- --- PASS TMEM87A 25963 broad.mit.edu 37 15 42519099 42519099 + Silent SNP C A A TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr15:42519099C>A uc010udd.1 - 15 1467 c.1308G>T c.(1306-1308)CGG>CGT p.R436R NM_015497 NP_056312 Q8NBN3 TM87A_HUMAN transmembrane protein 87A isoform 1 436 integral to membrane ovary(1) 1 all_cancers(109;4.28e-16)|all_epithelial(112;1.04e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152) GBM - Glioblastoma multiforme(94;1.03e-06) CCCACAGCTCCCGCCAGTCCT 0.443 5 55 --- --- --- --- PASS TGM7 116179 broad.mit.edu 37 15 43574172 43574172 + Missense_Mutation SNP C G G TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr15:43574172C>G uc001zrf.1 - 9 1226 c.1221G>C c.(1219-1221)TGG>TGC p.W407C NM_052955 NP_443187 Q96PF1 TGM7_HUMAN transglutaminase 7 407 peptide cross-linking acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity ovary(2) 2 all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;9.14e-07) L-Glutamine(DB00130) CCCCAAGGAGCCAAATGACTT 0.587 5 22 --- --- --- --- PASS CYP19A1 1588 broad.mit.edu 37 15 51503140 51503140 + Missense_Mutation SNP G T T TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr15:51503140G>T uc001zyz.3 - 11 1628 c.1377C>A c.(1375-1377)CAC>CAA p.H459Q CYP19A1_uc001zza.3_Missense_Mutation_p.H459Q NM_031226 NP_112503 P11511 CP19A_HUMAN cytochrome P450, family 19 459 estrogen biosynthetic process|xenobiotic metabolic process endoplasmic reticulum membrane|membrane fraction aromatase activity|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity skin(3) 3 all cancers(107;0.000372)|GBM - Glioblastoma multiforme(94;0.0128) Aminoglutethimide(DB00357)|Anastrozole(DB01217)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Diethylstilbestrol(DB00255)|Exemestane(DB00990)|Letrozole(DB01006)|Testolactone(DB00894)|Testosterone(DB00624) ATGTCTTCACGTGGAATCGTC 0.468 15 27 --- --- --- --- PASS ADAM10 102 broad.mit.edu 37 15 58891797 58891797 + Missense_Mutation SNP C A A TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr15:58891797C>A uc002afd.1 - 15 2596 c.2152G>T c.(2152-2154)GGC>TGC p.G718C ADAM10_uc010bgc.1_RNA|ADAM10_uc010ugz.1_Missense_Mutation_p.G417C|ADAM10_uc002afe.1_Intron NM_001110 NP_001101 O14672 ADA10_HUMAN ADAM metallopeptidase domain 10 precursor 718 Cytoplasmic (Potential). 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) ATATTCTTACCTGGAAGTGGT 0.348 5 88 --- --- --- --- PASS DPP8 54878 broad.mit.edu 37 15 65771329 65771329 + Missense_Mutation SNP C T T TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr15:65771329C>T uc002aov.2 - 11 2971 c.1393G>A c.(1393-1395)GAG>AAG p.E465K DPP8_uc002aow.2_Missense_Mutation_p.E465K|DPP8_uc010uiv.1_RNA|DPP8_uc002aox.2_Missense_Mutation_p.E449K|DPP8_uc002aoy.2_Missense_Mutation_p.E465K|DPP8_uc002aoz.2_Missense_Mutation_p.E449K|DPP8_uc010bhj.2_Missense_Mutation_p.E465K|DPP8_uc002apa.2_Missense_Mutation_p.E362K|DPP8_uc010bhk.1_Intron NM_130434 NP_569118 Q6V1X1 DPP8_HUMAN dipeptidyl peptidase 8 isoform 1 465 immune response|proteolysis cytoplasm|membrane|nucleus aminopeptidase activity|dipeptidyl-peptidase activity|serine-type peptidase activity ovary(1) 1 AAAATAAACTCAATTTCCTCT 0.308 5 12 --- --- --- --- PASS LCTL 197021 broad.mit.edu 37 15 66857146 66857146 + Silent SNP G A A TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr15:66857146G>A uc002aqc.2 - 2 282 c.150C>T c.(148-150)TAC>TAT p.Y50Y LCTL_uc002aqd.3_Intron|LCTL_uc010bhw.2_5'UTR NM_207338 NP_997221 Q6UWM7 LCTL_HUMAN lactase-like precursor 50 Extracellular (Potential). carbohydrate metabolic process endoplasmic reticulum membrane|integral to membrane cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds ovary(2) 2 CCTCCGTCTGGTAGGCAGAAC 0.647 8 40 --- --- --- --- PASS FAH 2184 broad.mit.edu 37 15 80478522 80478522 + Nonsense_Mutation SNP A T T TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr15:80478522A>T uc002bfj.2 + 15 1313 c.1231A>T c.(1231-1233)AAA>TAA p.K411* FAH_uc002bfk.1_Nonsense_Mutation_p.K411*|FAH_uc002bfm.1_Nonsense_Mutation_p.K411*|FAH_uc002bfn.1_Nonsense_Mutation_p.K341* NM_000137 NP_000128 P16930 FAAA_HUMAN fumarylacetoacetase 411 L-phenylalanine catabolic process|tyrosine catabolic process cytosol fumarylacetoacetase activity|metal ion binding 0 GTGTGCTGGAAAAGTGCTGCC 0.562 Tyrosinemia_type_1 20 30 --- --- --- --- PASS CPEB1 64506 broad.mit.edu 37 15 83218354 83218354 + Missense_Mutation SNP G T T TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr15:83218354G>T uc002bit.2 - 9 1587 c.1450C>A c.(1450-1452)CAG>AAG p.Q484K CPEB1_uc002biq.2_Missense_Mutation_p.Q344K|CPEB1_uc002bir.2_Missense_Mutation_p.Q349K|CPEB1_uc002bis.2_Missense_Mutation_p.Q344K|CPEB1_uc010uod.1_Missense_Mutation_p.Q193K|CPEB1_uc010uoe.1_Missense_Mutation_p.Q422K|CPEB1_uc002biu.2_Missense_Mutation_p.Q446K|CPEB1_uc010uof.1_Missense_Mutation_p.Q344K|CPEB1_uc002biv.2_Missense_Mutation_p.Q419K|CPEB1_uc002bip.2_Missense_Mutation_p.Q193K NM_001079533 NP_001073001 Q9BZB8 CPEB1_HUMAN cytoplasmic polyadenylation element binding 424 Necessary for stress granule assembly and correct localization in dcp1 bodies. mRNA processing|regulation of translation cell junction|cytoplasmic mRNA processing body|dendrite|postsynaptic density|postsynaptic membrane nucleotide binding|RNA binding ovary(1)|breast(1) 2 BRCA - Breast invasive adenocarcinoma(143;0.229) TCAAGCCTCTGAGATGGGCTC 0.552 26 31 --- --- --- --- PASS ACAN 176 broad.mit.edu 37 15 89400176 89400176 + Missense_Mutation SNP G A A TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr15:89400176G>A uc010upo.1 + 12 4734 c.4360G>A c.(4360-4362)GGA>AGA p.G1454R ACAN_uc010upp.1_Missense_Mutation_p.G1454R|ACAN_uc002bna.2_RNA NM_013227 NP_037359 E7EX88 E7EX88_HUMAN aggrecan isoform 2 precursor 1454 cell adhesion hyaluronic acid binding|sugar binding ovary(2)|central_nervous_system(1) 3 Lung NSC(78;0.0392)|all_lung(78;0.077) BRCA - Breast invasive adenocarcinoma(143;0.146) GCTTCCTTCTGGAGAAGTTCT 0.517 60 102 --- --- --- --- PASS CRTC3 64784 broad.mit.edu 37 15 91157683 91157683 + Splice_Site SNP A G G TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr15:91157683A>G uc002bpp.2 + 7 684 c.578_splice c.e7-2 p.G193_splice CRTC3_uc002bpo.2_Splice_Site_p.G193_splice NM_022769 NP_073606 Q6UUV7 CRTC3_HUMAN transducer of regulated CREB protein 3 isoform interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus CRTC3/MAML2(26) salivary_gland(26)|ovary(1) 27 Melanoma(11;0.00551)|Lung NSC(78;0.0931)|all_lung(78;0.163) BRCA - Breast invasive adenocarcinoma(143;0.0745) CTTTCCCGCTAGGTTTCTGTG 0.333 T MAML2 salivary gland mucoepidermoid 19 32 --- --- --- --- PASS ARRDC4 91947 broad.mit.edu 37 15 98512595 98512595 + Missense_Mutation SNP G T T TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr15:98512595G>T uc010bom.2 + 5 1027 c.868G>T c.(868-870)GAC>TAC p.D290Y ARRDC4_uc002bui.3_Missense_Mutation_p.D203Y NM_183376 NP_899232 Q8NCT1 ARRD4_HUMAN arrestin domain containing 4 290 signal transduction 0 Melanoma(26;0.00539)|Lung NSC(78;0.0125)|all_lung(78;0.0222) OV - Ovarian serous cystadenocarcinoma(32;0.0417) TATCAGAGTGGACTATTCCTT 0.403 6 39 --- --- --- --- PASS LRRK1 79705 broad.mit.edu 37 15 101598339 101598339 + Missense_Mutation SNP G A A TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr15:101598339G>A uc002bwr.2 + 29 4991 c.4672G>A c.(4672-4674)GAG>AAG p.E1558K LRRK1_uc010usb.1_RNA|LRRK1_uc010usc.1_RNA|LRRK1_uc002bws.2_RNA NM_024652 NP_078928 Q38SD2 LRRK1_HUMAN leucine-rich repeat kinase 1 1558 small GTPase mediated signal transduction mitochondrion ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity ovary(4)|lung(4)|central_nervous_system(3)|large_intestine(1) 12 Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094) OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23) TGGAAAAGAGGAGTCCAGGTA 0.448 5 21 --- --- --- --- PASS PKD1 5310 broad.mit.edu 37 16 2156207 2156207 + Missense_Mutation SNP C A A TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr16:2156207C>A uc002cos.1 - 19 7797 c.7588G>T c.(7588-7590)GGC>TGC p.G2530C PKD1_uc002cot.1_Missense_Mutation_p.G2530C|PKD1_uc010bse.1_5'Flank NM_001009944 NP_001009944 P98161 PKD1_HUMAN polycystin 1 isoform 1 precursor 2530 Extracellular (Potential).|REJ. calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway basolateral plasma membrane|integral to plasma membrane protein domain specific binding|sugar binding central_nervous_system(2)|skin(1) 3 GAGAGGCTGCCCTTGTAGACA 0.692 4 1 --- --- --- --- PASS USP7 7874 broad.mit.edu 37 16 8993508 8993508 + Missense_Mutation SNP C A A TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr16:8993508C>A uc002czl.2 - 22 2615 c.2416G>T c.(2416-2418)GAT>TAT p.D806Y USP7_uc010uyk.1_Missense_Mutation_p.D707Y|USP7_uc002czj.2_RNA|USP7_uc010uyj.1_Missense_Mutation_p.D707Y|USP7_uc002czk.2_Missense_Mutation_p.D790Y NM_003470 NP_003461 Q93009 UBP7_HUMAN ubiquitin specific peptidase 7 806 interspecies interaction between organisms|multicellular organismal development|protein deubiquitination|regulation of sequence-specific DNA binding transcription factor activity|ubiquitin-dependent protein catabolic process cytoplasm|PML body cysteine-type endopeptidase activity|p53 binding|protein C-terminus binding|transcription factor binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity ovary(3) 3 AATCCAGGATCATTAGGGATT 0.373 13 34 --- --- --- --- PASS GRIN2A 2903 broad.mit.edu 37 16 9862768 9862768 + Silent SNP C A A TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr16:9862768C>A uc002czo.3 - 12 3083 c.2535G>T c.(2533-2535)CTG>CTT p.L845L GRIN2A_uc010uym.1_Silent_p.L845L|GRIN2A_uc010uyn.1_Silent_p.L688L|GRIN2A_uc002czr.3_Silent_p.L845L NM_001134407 NP_001127879 Q12879 NMDE1_HUMAN N-methyl-D-aspartate receptor subunit 2A isoform 845 Cytoplasmic (Potential). response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding skin(32)|NS(5)|ovary(4)|large_intestine(1)|lung(1)|breast(1)|kidney(1) 45 Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) AACAGAAGCGCAGCTTCCAGT 0.577 9 37 --- --- --- --- PASS SMG1 23049 broad.mit.edu 37 16 18826808 18826808 + Missense_Mutation SNP G T T TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr16:18826808G>T uc002dfm.2 - 59 10831 c.10468C>A c.(10468-10470)CAG>AAG p.Q3490K SMG1_uc010bwb.2_Missense_Mutation_p.Q3350K|SMG1_uc010bwa.2_Missense_Mutation_p.Q2221K NM_015092 NP_055907 Q96Q15 SMG1_HUMAN PI-3-kinase-related kinase SMG-1 3490 DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation cytoplasm|nucleus ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity breast(5)|stomach(4)|lung(4)|kidney(2)|ovary(1) 16 GTGATTTCCTGGAGCATTTCA 0.383 5 61 --- --- --- --- PASS SMG1 23049 broad.mit.edu 37 16 18856853 18856853 + Missense_Mutation SNP C A A TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr16:18856853C>A uc002dfm.2 - 39 6480 c.6117G>T c.(6115-6117)TGG>TGT p.W2039C SMG1_uc010bwb.2_Missense_Mutation_p.W1899C|SMG1_uc010bwa.2_Missense_Mutation_p.W770C|SMG1_uc002dfo.3_Missense_Mutation_p.W337C NM_015092 NP_055907 Q96Q15 SMG1_HUMAN PI-3-kinase-related kinase SMG-1 2039 DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation cytoplasm|nucleus ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity breast(5)|stomach(4)|lung(4)|kidney(2)|ovary(1) 16 TATCCTGAAACCATTTTTCAT 0.458 23 40 --- --- --- --- PASS GPR139 124274 broad.mit.edu 37 16 20043574 20043574 + Missense_Mutation SNP A G G TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr16:20043574A>G uc002dgu.1 - 2 707 c.545T>C c.(544-546)GTC>GCC p.V182A GPR139_uc010vaw.1_Missense_Mutation_p.V89A NM_001002911 NP_001002911 Q6DWJ6 GP139_HUMAN G protein-coupled receptor 139 182 Helical; Name=5; (Potential). integral to membrane|plasma membrane ovary(2) 2 CCAGATGAGGACGTGATGCAC 0.488 11 21 --- --- --- --- PASS CHP2 63928 broad.mit.edu 37 16 23768853 23768853 + Silent SNP C G G TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr16:23768853C>G uc002dmb.1 + 7 963 c.540C>G c.(538-540)TCC>TCG p.S180S NM_022097 NP_071380 O43745 CHP2_HUMAN hepatocellular carcinoma antigen gene 520 180 EF-hand 4. calcium ion binding central_nervous_system(1) 1 GBM - Glioblastoma multiforme(48;0.0144) TCCCTCAGTCCTTAGAGAAGA 0.522 49 113 --- --- --- --- PASS SEZ6L2 26470 broad.mit.edu 37 16 29906726 29906726 + Missense_Mutation SNP C G G TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr16:29906726C>G uc002duq.3 - 5 947 c.707G>C c.(706-708)GGA>GCA p.G236A uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|SEZ6L2_uc002dup.3_Missense_Mutation_p.G166A|SEZ6L2_uc002dur.3_Missense_Mutation_p.G166A|SEZ6L2_uc002dus.3_Intron|SEZ6L2_uc010vec.1_Missense_Mutation_p.G236A|SEZ6L2_uc010ved.1_Missense_Mutation_p.G192A NM_201575 NP_963869 Q6UXD5 SE6L2_HUMAN seizure related 6 homolog (mouse)-like 2 isoform 236 CUB 1.|Extracellular (Potential). endoplasmic reticulum membrane|integral to membrane|plasma membrane ovary(1)|skin(1) 2 GCCTGGGGATCCCCCACCAGC 0.627 7 12 --- --- --- --- PASS ITGAL 3683 broad.mit.edu 37 16 30522395 30522395 + Silent SNP G T T TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr16:30522395G>T uc002dyi.3 + 24 2900 c.2724G>T c.(2722-2724)CTG>CTT p.L908L ITGAL_uc002dyj.3_Silent_p.L824L|ITGAL_uc010vev.1_Silent_p.L142L NM_002209 NP_002200 P20701 ITAL_HUMAN integrin alpha L isoform a precursor 908 Extracellular (Potential). blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell integrin complex cell adhesion molecule binding|receptor activity ovary(3)|lung(3)|central_nervous_system(3)|breast(1) 10 Efalizumab(DB00095) CAGACCTCCTGGAGGACAACT 0.562 26 39 --- --- --- --- PASS FBXL19 54620 broad.mit.edu 37 16 30941629 30941629 + Missense_Mutation SNP G T T TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr16:30941629G>T uc002eab.2 + 7 1243 c.1085G>T c.(1084-1086)GGC>GTC p.G362V FBXL19_uc002dzz.1_Missense_Mutation_p.G50V|FBXL19_uc002eaa.1_Missense_Mutation_p.G261V NM_001099784 NP_001093254 Q6PCT2 FXL19_HUMAN F-box and leucine-rich repeat protein 19 362 DNA binding|zinc ion binding ovary(2)|lung(1)|breast(1) 4 GGCAGCTCTGGCGAGAAGGAG 0.736 6 7 --- --- --- --- PASS MMP2 4313 broad.mit.edu 37 16 55530863 55530863 + Missense_Mutation SNP C A A TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr16:55530863C>A uc002ehz.3 + 10 1809 c.1498C>A c.(1498-1500)CGT>AGT p.R500S MMP2_uc010vhd.1_Missense_Mutation_p.R424S|MMP2_uc010ccc.2_Missense_Mutation_p.R450S|MMP2_uc002eia.3_5'UTR NM_004530 NP_004521 P08253 MMP2_HUMAN matrix metalloproteinase 2 isoform a 500 Required for inhibitor TIMP2 binding.|Hemopexin-like 1. angiogenesis|collagen catabolic process|proteolysis extracellular space|membrane|nucleus|proteinaceous extracellular matrix metalloendopeptidase activity|protein binding|zinc ion binding large_intestine(3)|ovary(3)|lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1) 11 Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189) UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786) Marimastat(DB00786)|Sulindac(DB00605) TGTGACGCCACGTGACAAGCC 0.602 11 21 --- --- --- --- PASS TMCO7 79613 broad.mit.edu 37 16 69074319 69074319 + Missense_Mutation SNP A T T TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr16:69074319A>T uc002ewi.3 + 17 3115 c.3103A>T c.(3103-3105)ACT>TCT p.T1035S NM_024562 NP_078838 Q9C0B7 TMCO7_HUMAN transmembrane and coiled-coil domains 7 1035 integral to membrane binding 0 Ovarian(137;0.0568) OV - Ovarian serous cystadenocarcinoma(108;0.0446)|Epithelial(162;0.198) CCAGAAAGCTACTGAGGTCAG 0.483 9 4 --- --- --- --- PASS ZNF23 7571 broad.mit.edu 37 16 71483409 71483409 + Silent SNP T C C TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr16:71483409T>C uc002faf.2 - 6 1333 c.519A>G c.(517-519)TTA>TTG p.L173L ZNF23_uc002fad.2_Silent_p.L115L|ZNF23_uc002fae.2_Silent_p.L115L|ZNF23_uc010vmf.1_Silent_p.L115L|ZNF23_uc002fag.2_Silent_p.L115L|ZNF23_uc002fah.2_Silent_p.L173L|ZNF23_uc002fai.2_Silent_p.L212L NM_145911 NP_666016 P17027 ZNF23_HUMAN zinc finger protein 23 173 C2H2-type 1; degenerate. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Ovarian(137;0.00768) BRCA - Breast invasive adenocarcinoma(221;0.0686) AGGGCTCTACTAATTCTTCAC 0.403 15 25 --- --- --- --- PASS DHX38 9785 broad.mit.edu 37 16 72141386 72141386 + Silent SNP G T T TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr16:72141386G>T uc002fcb.2 + 20 3103 c.2748G>T c.(2746-2748)CCG>CCT p.P916P DHX38_uc010vmp.1_Silent_p.P228P NM_014003 NP_054722 Q92620 PRP16_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 38 916 mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription catalytic step 2 spliceosome|nucleoplasm ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding skin(1) 1 Ovarian(137;0.125) ACCCGCCCCCGGAGGACAACA 0.632 15 11 --- --- --- --- PASS ZFHX3 463 broad.mit.edu 37 16 72821528 72821528 + Missense_Mutation SNP C A A TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr16:72821528C>A uc002fck.2 - 10 11320 c.10647G>T c.(10645-10647)GAG>GAT p.E3549D uc002fcj.1_Intron|ZFHX3_uc002fcl.2_Missense_Mutation_p.E2635D NM_006885 NP_008816 Q15911 ZFHX3_HUMAN zinc finger homeobox 3 isoform A 3549 C2H2-type 22. muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation transcription factor complex enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding ovary(2)|skin(2) 4 Ovarian(137;0.13) GCAAGGCCGACTCGAGATGTT 0.458 43 78 --- --- --- --- PASS LDHD 197257 broad.mit.edu 37 16 75149456 75149456 + Missense_Mutation SNP A T T TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr16:75149456A>T uc002fdm.2 - 2 222 c.175T>A c.(175-177)TCG>ACG p.S59T LDHD_uc002fdn.2_Missense_Mutation_p.S59T NM_153486 NP_705690 Q86WU2 LDHD_HUMAN D-lactate dehydrogenase isoform 1 precursor 59 D-lactate dehydrogenase (cytochrome) activity|flavin adenine dinucleotide binding|protein binding 0 CTGTGCACCGACTCATCGCGC 0.647 3 4 --- --- --- --- PASS WWOX 51741 broad.mit.edu 37 16 78198080 78198080 + Missense_Mutation SNP G T T TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr16:78198080G>T uc002ffk.2 + 5 535 c.410G>T c.(409-411)GGG>GTG p.G137V WWOX_uc010vnk.1_Missense_Mutation_p.G24V|WWOX_uc002ffl.2_Missense_Mutation_p.G137V|WWOX_uc010che.2_Intron|WWOX_uc002ffj.1_Missense_Mutation_p.G137V NM_016373 NP_057457 Q9NZC7 WWOX_HUMAN WW domain-containing oxidoreductase isoform 1 137 NADP (By similarity).|Interaction with MAPT (By similarity). apoptosis|negative regulation of Wnt receptor signaling pathway|steroid metabolic process|Wnt receptor signaling pathway Golgi apparatus|mitochondrion|nucleus coenzyme binding|oxidoreductase activity|protein dimerization activity 0 all_cancers(2;1.97e-181)|all_epithelial(2;3.85e-160)|all_lung(2;2.03e-39)|Lung NSC(2;7.16e-35)|Colorectal(2;6.96e-21)|all_hematologic(2;1.13e-16)|Melanoma(2;5.16e-06)|all_neural(2;8.84e-06)|Renal(2;5.26e-05)|Medulloblastoma(2;0.00498)|Breast(2;0.00631)|Lung SC(2;0.0261)|Prostate(104;0.167) UCEC - Uterine corpus endometrioid carcinoma (2;0.012)|Epithelial(1;2.65e-39)|all cancers(1;3.26e-34)|STAD - Stomach adenocarcinoma(1;5.1e-20)|COAD - Colon adenocarcinoma(1;1.04e-11)|Colorectal(1;3.4e-11)|OV - Ovarian serous cystadenocarcinoma(1;1.01e-10)|BRCA - Breast invasive adenocarcinoma(1;0.00196)|Kidney(780;0.232) TAAACCATAGGGTTCGAAACC 0.448 10 16 --- --- --- --- PASS ATP2C2 9914 broad.mit.edu 37 16 84486818 84486818 + Nonsense_Mutation SNP G T T TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr16:84486818G>T uc002fhx.2 + 19 1995 c.1906G>T c.(1906-1908)GAG>TAG p.E636* ATP2C2_uc010chj.2_Nonsense_Mutation_p.E636*|ATP2C2_uc002fhy.2_Nonsense_Mutation_p.E653*|ATP2C2_uc002fhz.2_Nonsense_Mutation_p.E485* NM_014861 NP_055676 O75185 AT2C2_HUMAN ATPase, Ca++ transporting, type 2C, member 2 636 Extracellular (Potential). ATP biosynthetic process Golgi membrane|integral to membrane ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding breast(1)|central_nervous_system(1) 2 GGAGAAGGGCGAGCTGGCCGA 0.622 3 15 --- --- --- --- PASS OR1G1 8390 broad.mit.edu 37 17 3030761 3030761 + Missense_Mutation SNP C T T TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr17:3030761C>T uc002fvc.1 - 1 85 c.85G>A c.(85-87)GGG>AGG p.G29R NM_003555 NP_003546 P47890 OR1G1_HUMAN olfactory receptor, family 1, subfamily G, 29 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 AGGAAGGACCCAAAGAGGGGC 0.493 48 49 --- --- --- --- PASS DNAH2 146754 broad.mit.edu 37 17 7644287 7644287 + Missense_Mutation SNP C G G TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr17:7644287C>G uc002giu.1 + 10 1680 c.1666C>G c.(1666-1668)CGT>GGT p.R556G DNAH2_uc002git.2_Missense_Mutation_p.R638G|DNAH2_uc010vuk.1_Missense_Mutation_p.R556G NM_020877 NP_065928 Q9P225 DYH2_HUMAN dynein heavy chain domain 3 556 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(6)|skin(6)|central_nervous_system(1) 13 all_cancers(10;4.66e-07)|Prostate(122;0.081) CATCCTCCGGCGTCGCATCGA 0.607 26 33 --- --- --- --- PASS GAS7 8522 broad.mit.edu 37 17 9923211 9923211 + Missense_Mutation SNP G T T TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr17:9923211G>T uc002gmg.1 - 2 348 c.187C>A c.(187-189)CCT>ACT p.P63T GAS7_uc010vvd.1_Missense_Mutation_p.P15T|GAS7_uc002gmi.2_5'UTR|GAS7_uc002gmj.1_Missense_Mutation_p.P3T|GAS7_uc010coh.1_Missense_Mutation_p.P3T NM_201433 NP_958839 O60861 GAS7_HUMAN growth arrest-specific 7 isoform c 63 cell cycle arrest cytoplasm sequence-specific DNA binding transcription factor activity lung(1)|pancreas(1) 2 ACCATTCCAGGCTTCTGTTGG 0.532 T MLL AML* 8 21 --- --- --- --- PASS MYH8 4626 broad.mit.edu 37 17 10303705 10303705 + Splice_Site SNP A G G TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr17:10303705A>G uc002gmm.2 - 27 3830 c.3735_splice c.e27+1 p.K1245_splice uc002gml.1_Intron NM_002472 NP_002463 P13535 MYH8_HUMAN myosin, heavy chain 8, skeletal muscle, muscle filament sliding cytosol|muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle skin(6)|ovary(3)|breast(2) 11 AGTATTGGGTACCTTGGCTTT 0.433 Trismus-Pseudocamptodactyly_Syndrome_with_Cardiac_Myxoma_and_Freckling 5 119 --- --- --- --- PASS MYH4 4622 broad.mit.edu 37 17 10360881 10360881 + Missense_Mutation SNP A C C TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr17:10360881A>C uc002gmn.2 - 16 1864 c.1753T>G c.(1753-1755)TAT>GAT p.Y585D uc002gml.1_Intron NM_017533 NP_060003 Q9Y623 MYH4_HUMAN myosin, heavy polypeptide 4, skeletal muscle 585 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 GTGCCGGCATAGTGCACCAGT 0.522 52 21 --- --- --- --- PASS MYH2 4620 broad.mit.edu 37 17 10432170 10432170 + Missense_Mutation SNP G T T TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr17:10432170G>T uc010coi.2 - 27 3709 c.3581C>A c.(3580-3582)ACA>AAA p.T1194K uc002gml.1_Intron|MYH2_uc002gmp.3_Missense_Mutation_p.T1194K|MYH2_uc010coj.2_Intron NM_001100112 NP_001093582 Q9UKX2 MYH2_HUMAN myosin heavy chain IIa 1194 Potential. muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle ovary(5)|pancreas(4)|skin(3)|lung(1)|kidney(1) 14 GGTGGCCGCTGTGGCTTCATG 0.577 15 71 --- --- --- --- PASS DNAH9 1770 broad.mit.edu 37 17 11572467 11572467 + Missense_Mutation SNP G A A TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr17:11572467G>A uc002gne.2 + 16 2886 c.2818G>A c.(2818-2820)GGA>AGA p.G940R DNAH9_uc010coo.2_Missense_Mutation_p.G234R NM_001372 NP_001363 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 isoform 2 940 Stem (By similarity). cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1) 20 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) TCTGGAGTCTGGAGTGAAGGG 0.483 8 120 --- --- --- --- PASS ZNF18 7566 broad.mit.edu 37 17 11896038 11896038 + Missense_Mutation SNP G A A TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr17:11896038G>A uc002gng.1 - 4 714 c.109C>T c.(109-111)CCT>TCT p.P37S ZNF18_uc002gnh.1_Missense_Mutation_p.P37S|ZNF18_uc002gni.1_Missense_Mutation_p.P37S NM_144680 NP_653281 P17022 ZNF18_HUMAN zinc finger protein 18 37 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(1) 1 Colorectal(4;3.33e-05)|COAD - Colon adenocarcinoma(4;0.000494)|READ - Rectum adenocarcinoma(10;0.233) GCGGTCTCAGGGCTGGAGAGT 0.582 38 23 --- --- --- --- PASS MAP2K4 6416 broad.mit.edu 37 17 11984822 11984822 + Missense_Mutation SNP C A A TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr17:11984822C>A uc002gnj.2 + 3 437 c.368C>A c.(367-369)CCA>CAA p.P123Q MAP2K4_uc002gnk.2_Missense_Mutation_p.P134Q|MAP2K4_uc010vvi.1_Missense_Mutation_p.P5Q|MAP2K4_uc010vvj.1_Intron|MIR744_hsa-mir-744|MI0005559_5'Flank NM_003010 NP_003001 P45985 MP2K4_HUMAN mitogen-activated protein kinase kinase 4 123 Protein kinase. cellular response to mechanical stimulus|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol ATP binding|JUN kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.?(1) large_intestine(14)|breast(12)|lung(8)|ovary(8)|pancreas(8)|stomach(2)|central_nervous_system(1)|biliary_tract(1)|testis(1)|endometrium(1)|urinary_tract(1)|skin(1) 58 all_cancers(5;0.0413)|Breast(5;0.000625)|all_epithelial(5;0.00978)|all_lung(20;0.0449)|Lung NSC(33;0.163) Epithelial(2;4.12e-09)|all cancers(2;6.86e-07)|BRCA - Breast invasive adenocarcinoma(2;8.74e-07)|Colorectal(4;5.32e-05)|COAD - Colon adenocarcinoma(4;0.0039)|READ - Rectum adenocarcinoma(10;0.0681) GTCCACAAACCAAGTGGGCAA 0.413 D|Mis|N pancreatic|breast|colorectal 5 48 --- --- --- --- PASS MYOCD 93649 broad.mit.edu 37 17 12664015 12664015 + Nonsense_Mutation SNP G T T TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr17:12664015G>T uc002gnn.2 + 12 2535 c.2236G>T c.(2236-2238)GAA>TAA p.E746* MYOCD_uc002gno.2_Nonsense_Mutation_p.E794*|MYOCD_uc002gnq.2_Nonsense_Mutation_p.E470* NM_153604 NP_705832 Q8IZQ8 MYCD_HUMAN myocardin isoform 2 746 cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation nucleus nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding central_nervous_system(2)|skin(2)|ovary(1) 5 UCEC - Uterine corpus endometrioid carcinoma (92;0.0969) CGTGCTTATTGAAAGCGGAGG 0.458 5 7 --- --- --- --- PASS NOS2 4843 broad.mit.edu 37 17 26084309 26084309 + Missense_Mutation SNP G A A TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr17:26084309G>A uc002gzu.2 - 27 3689 c.3425C>T c.(3424-3426)GCG>GTG p.A1142V NM_000625 NP_000616 P35228 NOS2_HUMAN nitric oxide synthase 2A 1142 arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process cytosol|nucleus arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding skin(2)|ovary(1)|breast(1) 4 Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155) GGGCTGCACCGCCACCCTGTC 0.532 OREG0024267 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 13 31 --- --- --- --- PASS TRAF4 9618 broad.mit.edu 37 17 27075299 27075299 + Missense_Mutation SNP C T T TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr17:27075299C>T uc002hcs.2 + 5 590 c.482C>T c.(481-483)CCC>CTC p.P161L TRAF4_uc002hcq.1_Intron NM_004295 NP_004286 Q9BUZ4 TRAF4_HUMAN TNF receptor-associated factor 4 161 TRAF-type 2. apoptosis|positive regulation of JNK cascade|positive regulation of protein homodimerization activity|positive regulation of protein kinase activity|regulation of apoptosis|signal transduction cytoskeleton|nucleus|perinuclear region of cytoplasm|tight junction DNA binding|ubiquitin-protein ligase activity|WW domain binding|zinc ion binding upper_aerodigestive_tract(1)|lung(1) 2 Lung NSC(42;0.01) Epithelial(11;3.26e-05)|all cancers(11;0.000272)|OV - Ovarian serous cystadenocarcinoma(11;0.235) GGTATGTGCCCCCAGGAGAGT 0.602 11 26 --- --- --- --- PASS UNC45B 146862 broad.mit.edu 37 17 33498366 33498366 + Nonsense_Mutation SNP C A A TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr17:33498366C>A uc002hja.2 + 13 1818 c.1721C>A c.(1720-1722)TCG>TAG p.S574* UNC45B_uc002hjb.2_Nonsense_Mutation_p.S572*|UNC45B_uc002hjc.2_Nonsense_Mutation_p.S572*|UNC45B_uc010cto.2_Nonsense_Mutation_p.S493* NM_173167 NP_775259 Q8IWX7 UN45B_HUMAN cardiomyopathy associated 4 isoform 1 574 cell differentiation|muscle organ development cytosol binding ovary(3)|central_nervous_system(2)|breast(1) 6 Ovarian(249;0.17) ATCCTGTACTCGGTGGCCACC 0.557 OREG0024327 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 51 --- --- --- --- PASS UNC45B 146862 broad.mit.edu 37 17 33501267 33501267 + Nonsense_Mutation SNP A T T TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr17:33501267A>T uc002hja.2 + 14 1940 c.1843A>T c.(1843-1845)AAG>TAG p.K615* UNC45B_uc002hjb.2_Nonsense_Mutation_p.K613*|UNC45B_uc002hjc.2_Nonsense_Mutation_p.K613*|UNC45B_uc010cto.2_Nonsense_Mutation_p.K534* NM_173167 NP_775259 Q8IWX7 UN45B_HUMAN cardiomyopathy associated 4 isoform 1 615 cell differentiation|muscle organ development cytosol binding ovary(3)|central_nervous_system(2)|breast(1) 6 Ovarian(249;0.17) TCAGGACAAGAAGGACTTTAT 0.502 25 86 --- --- --- --- PASS CWC25 54883 broad.mit.edu 37 17 36959000 36959000 + Silent SNP C A A TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr17:36959000C>A uc002hqu.2 - 9 1269 c.1116G>T c.(1114-1116)CGG>CGT p.R372R CWC25_uc010wdv.1_Silent_p.R309R|CWC25_uc010wdw.1_RNA|PIP4K2B_uc002hqs.2_5'Flank|PIP4K2B_uc010wdt.1_5'Flank NM_017748 NP_060218 Q9NXE8 CWC25_HUMAN coiled-coil domain containing 49 372 Potential. 0 GCCTCTGCTCCCGTTCCTCAT 0.522 24 74 --- --- --- --- PASS WIPF2 147179 broad.mit.edu 37 17 38421393 38421393 + Missense_Mutation SNP G T T TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr17:38421393G>T uc002hug.1 + 5 1205 c.965G>T c.(964-966)GGA>GTA p.G322V WIPF2_uc002huh.1_Missense_Mutation_p.G172V|WIPF2_uc010cww.1_Missense_Mutation_p.G172V|WIPF2_uc002hui.1_Missense_Mutation_p.G322V|WIPF2_uc010cwx.1_Intron|WIPF2_uc010cwy.1_Missense_Mutation_p.G322V NM_133264 NP_573571 Q8TF74 WIPF2_HUMAN WIRE protein 322 cytoplasm|cytoskeleton actin binding upper_aerodigestive_tract(1)|ovary(1)|pancreas(1) 3 CCCAGTCGGGGAGCAGGTAAG 0.522 HNSCC(43;0.11) 9 37 --- --- --- --- PASS KRT33B 3884 broad.mit.edu 37 17 39521219 39521219 + Silent SNP G A A TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr17:39521219G>A uc002hwl.2 - 6 954 c.909C>T c.(907-909)AGC>AGT p.S303S NM_002279 NP_002270 Q14525 KT33B_HUMAN type I hair keratin 3B 303 Coil 2.|Rod. intermediate filament protein binding|structural molecule activity 0 Breast(137;0.000496) AGCGGGCCTCGCTCTCTGTCA 0.582 12 38 --- --- --- --- PASS PTRF 284119 broad.mit.edu 37 17 40574766 40574766 + Missense_Mutation SNP A T T TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr17:40574766A>T uc002hzo.2 - 1 509 c.350T>A c.(349-351)GTC>GAC p.V117D PTRF_uc010wgi.1_Missense_Mutation_p.V99D NM_012232 NP_036364 Q6NZI2 PTRF_HUMAN polymerase I and transcript release factor 117 regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription initiation from RNA polymerase I promoter caveola|cytosol|endoplasmic reticulum|microsome|mitochondrion|nucleoplasm protein binding|rRNA primary transcript binding breast(1) 1 all_cancers(22;0.00146)|Breast(137;0.00116)|all_epithelial(22;0.0134) BRCA - Breast invasive adenocarcinoma(366;0.193) GTTGACGCTGACCTTGCGCAC 0.667 3 5 --- --- --- --- PASS IGF2BP1 10642 broad.mit.edu 37 17 47120878 47120878 + Missense_Mutation SNP G T T TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr17:47120878G>T uc002iom.2 + 10 1500 c.1166G>T c.(1165-1167)AGC>ATC p.S389I IGF2BP1_uc010dbj.2_Missense_Mutation_p.S250I NM_006546 NP_006537 Q9NZI8 IF2B1_HUMAN insulin-like growth factor 2 mRNA binding 389 Necessary for interaction with ELAVL4 and binding to TAU mRNA (By similarity). CRD-mediated mRNA stabilization|negative regulation of translation|regulation of mRNA stability involved in response to stress CRD-mediated mRNA stability complex|cytosol|dendritic spine|lamellipodium|nucleus|plasma membrane|stress granule mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity kidney(1) 1 CCTCCCAGCAGCGTTACTGGG 0.577 10 35 --- --- --- --- PASS PPP1R9B 84687 broad.mit.edu 37 17 48216853 48216853 + Nonsense_Mutation SNP C A A TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr17:48216853C>A uc002iqh.3 - 8 1963 c.1960G>T c.(1960-1962)GAG>TAG p.E654* NM_032595 NP_115984 Q96SB3 NEB2_HUMAN protein phosphatase 1, regulatory subunit 9B 652 Interacts with TGN38 (By similarity). cell cycle arrest|cell differentiation|cell migration|filopodium assembly|negative regulation of cell growth|nervous system development|regulation of cell growth by extracellular stimulus|regulation of cell proliferation|regulation of exit from mitosis|RNA splicing adherens junction|cytoskeleton|dendritic spine|filopodium|lamellipodium|nucleoplasm|protein phosphatase type 1 complex|ruffle membrane|synapse actin binding|protein phosphatase 1 binding|protein phosphatase inhibitor activity 0 AGTGCATCCTCGTTCTCCGCT 0.612 5 157 --- --- --- --- PASS TMEM100 55273 broad.mit.edu 37 17 53798268 53798268 + Missense_Mutation SNP C A A TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr17:53798268C>A uc002iuj.3 - 2 475 c.164G>T c.(163-165)CGC>CTC p.R55L TMEM100_uc002iuk.3_Missense_Mutation_p.R55L NM_018286 NP_060756 Q9NV29 TM100_HUMAN transmembrane protein 100 55 integral to membrane 0 GATGATGCAGCGGTAGCAGGA 0.537 35 66 --- --- --- --- PASS ANKFN1 162282 broad.mit.edu 37 17 54520245 54520245 + Missense_Mutation SNP A T T TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr17:54520245A>T uc002iun.1 + 9 1094 c.1059A>T c.(1057-1059)AAA>AAT p.K353N NM_153228 NP_694960 Q8N957 ANKF1_HUMAN ankyrin-repeat and fibronectin type III domain 353 Fibronectin type-III. large_intestine(1)|ovary(1) 2 ACAATATGAAAGGATGGGGAC 0.458 13 54 --- --- --- --- PASS HELZ 9931 broad.mit.edu 37 17 65162609 65162609 + Missense_Mutation SNP G T T TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr17:65162609G>T uc010wqk.1 - 15 2067 c.1880C>A c.(1879-1881)CCA>CAA p.P627Q HELZ_uc002jfv.3_RNA|HELZ_uc002jfx.3_Missense_Mutation_p.P627Q NM_014877 NP_055692 helicase with zinc finger domain ovary(1)|pancreas(1) 2 all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13) AGGACTCCATGGTATGGTGGG 0.358 5 84 --- --- --- --- PASS PITPNC1 26207 broad.mit.edu 37 17 65688927 65688927 + Missense_Mutation SNP G T T TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr17:65688927G>T uc002jgc.2 + 9 1269 c.922G>T c.(922-924)GAC>TAC p.D308Y PITPNC1_uc002jgb.2_3'UTR NM_012417 NP_036549 Q9UKF7 PITC1_HUMAN phosphatidylinositol transfer protein, 308 signal transduction cytoplasm lipid binding|phosphatidylinositol transporter activity|protein binding p.D308D(1) skin(1) 1 all_cancers(12;3.03e-10) BRCA - Breast invasive adenocarcinoma(8;2.08e-08)|Colorectal(3;0.198) CACACTTCCAGACCCTGAGAA 0.502 35 122 --- --- --- --- PASS BPTF 2186 broad.mit.edu 37 17 65955663 65955663 + Missense_Mutation SNP C A A TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr17:65955663C>A uc002jgf.2 + 24 7994 c.7933C>A c.(7933-7935)CTG>ATG p.L2645M BPTF_uc002jge.2_Missense_Mutation_p.L2628M|BPTF_uc002jgg.2_Missense_Mutation_p.L302M|BPTF_uc002jgh.2_Missense_Mutation_p.L104M NM_182641 NP_872579 Q12830 BPTF_HUMAN bromodomain PHD finger transcription factor 2771 brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|NURF complex sequence-specific DNA binding|transcription factor binding|zinc ion binding ovary(2)|skin(2) 4 all_cancers(12;6e-11) BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24) ACAGGAAGAGCTGAAGAGAGA 0.418 32 89 --- --- --- --- PASS C17orf80 55028 broad.mit.edu 37 17 71232591 71232591 + Missense_Mutation SNP G A A TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr17:71232591G>A uc002jjm.3 + 3 1164 c.970G>A c.(970-972)GAA>AAA p.E324K C17orf80_uc010wqu.1_Missense_Mutation_p.E324K|C17orf80_uc010dfj.2_Missense_Mutation_p.E324K|C17orf80_uc002jjk.1_Missense_Mutation_p.E324K|C17orf80_uc002jjl.3_Missense_Mutation_p.E324K NM_017941 NP_060411 Q9BSJ5 CQ080_HUMAN lung cancer-related protein 8 isoform a 324 Extracellular (Potential). integral to membrane skin(1) 1 LUSC - Lung squamous cell carcinoma(166;0.197) AGAAAAGCAGGAACGGACTGT 0.463 4 35 --- --- --- --- PASS BTBD17 388419 broad.mit.edu 37 17 72352885 72352885 + Missense_Mutation SNP G T T TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr17:72352885G>T uc002jkn.2 - 3 1348 c.1348C>A c.(1348-1350)CGC>AGC p.R450S NM_001080466 NP_001073935 A6NE02 BTBDH_HUMAN BTB (POZ) domain containing 17 precursor 450 extracellular region 0 TCGGAGTTGCGCCGCTGCAGG 0.677 4 10 --- --- --- --- PASS UNK 85451 broad.mit.edu 37 17 73780809 73780809 + Missense_Mutation SNP C G G TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr17:73780809C>G uc002jpm.2 + 2 76 c.76C>G c.(76-78)CCG>GCG p.P26A UNK_uc002jpn.2_RNA|UNK_uc002jpo.2_RNA NM_001080419 NP_001073888 Q9C0B0 UNK_HUMAN zinc finger CCCH-type domain containing 5 Error:Variant_position_missing_in_Q9C0B0_after_alignment nucleic acid binding|zinc ion binding 0 all cancers(21;2.61e-06)|Epithelial(20;7.39e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|LUSC - Lung squamous cell carcinoma(166;0.154) AAAATTCCAGCCGGACATAGA 0.642 10 13 --- --- --- --- PASS ACOX1 51 broad.mit.edu 37 17 73945424 73945424 + Silent SNP C A A TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr17:73945424C>A uc002jqf.2 - 12 1892 c.1602G>T c.(1600-1602)GTG>GTT p.V534V ACOX1_uc010wsq.1_Silent_p.V496V|ACOX1_uc002jqe.2_Silent_p.V534V|ACOX1_uc010wsr.1_Silent_p.V466V NM_007292 NP_009223 Q15067 ACOX1_HUMAN acyl-Coenzyme A oxidase 1 isoform b 534 VV -> GL (in Ref. 1; AAA19113 and 2; AAA18595). fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|prostaglandin metabolic process|very long-chain fatty acid metabolic process peroxisomal matrix acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity|flavin adenine dinucleotide binding|protein N-terminus binding ovary(1) 1 GCTTAACTACCACATAGTGGC 0.358 5 105 --- --- --- --- PASS ACOX1 51 broad.mit.edu 37 17 73969781 73969781 + Nonsense_Mutation SNP G A A TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr17:73969781G>A uc002jqf.2 - 3 645 c.355C>T c.(355-357)CAG>TAG p.Q119* ACOX1_uc010wsq.1_Intron|ACOX1_uc002jqe.2_Intron|ACOX1_uc010wsr.1_5'UTR NM_007292 NP_009223 Q15067 ACOX1_HUMAN acyl-Coenzyme A oxidase 1 isoform b 119 Q -> E (in Ref. 4; AAB30019). fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|prostaglandin metabolic process|very long-chain fatty acid metabolic process peroxisomal matrix acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity|flavin adenine dinucleotide binding|protein N-terminus binding ovary(1) 1 TTCTCTTTCTGAGCAGTGGTG 0.483 22 48 --- --- --- --- PASS HGS 9146 broad.mit.edu 37 17 79667556 79667556 + Missense_Mutation SNP C T T TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr17:79667556C>T uc002kbg.2 + 19 2019 c.1942C>T c.(1942-1944)CCC>TCC p.P648S MRPL12_uc002kbh.1_5'Flank|SLC25A10_uc010wut.1_5'Flank NM_004712 NP_004703 O14964 HGS_HUMAN hepatocyte growth factor-regulated tyrosine 648 Interaction with NF2.|Gln-rich. cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of JAK-STAT cascade|regulation of protein catabolic process cytosol|early endosome membrane|multivesicular body membrane metal ion binding|protein domain specific binding ovary(1) 1 all_neural(118;0.0878)|all_lung(278;0.23) BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0955) GCAGGCGGCCCCCCAGGCCCA 0.652 7 20 --- --- --- --- PASS COLEC12 81035 broad.mit.edu 37 18 335079 335079 + Silent SNP G A A TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr18:335079G>A uc002kkm.2 - 6 1694 c.1479C>T c.(1477-1479)CCC>CCT p.P493P NM_130386 NP_569057 Q5KU26 COL12_HUMAN collectin sub-family member 12 493 Collagen-like 2.|Extracellular (Potential). carbohydrate mediated signaling|innate immune response|phagocytosis, recognition|protein homooligomerization collagen|integral to membrane galactose binding|low-density lipoprotein particle binding|metal ion binding|pattern recognition receptor activity|scavenger receptor activity ovary(1)|pancreas(1) 2 all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426) CACGCTCTCCGGGGGGACCAG 0.672 4 17 --- --- --- --- PASS CHST9 83539 broad.mit.edu 37 18 24496619 24496619 + Missense_Mutation SNP T A A TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr18:24496619T>A uc002kwd.2 - 5 1134 c.936A>T c.(934-936)AAA>AAT p.K312N C18orf16_uc002kwb.2_Intron|C18orf16_uc010xbm.1_Intron|CHST9_uc002kwc.2_Missense_Mutation_p.K227N|CHST9_uc002kwe.2_Missense_Mutation_p.K312N NM_031422 NP_113610 Q7L1S5 CHST9_HUMAN GalNAc-4-sulfotransferase 2 312 Lumenal (Potential). carbohydrate biosynthetic process|glycosaminoglycan metabolic process|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process extracellular region|Golgi membrane|integral to membrane N-acetylgalactosamine 4-O-sulfotransferase activity ovary(2)|skin(1) 3 all_lung(6;0.0145)|Ovarian(20;0.124) TTGGTCGATATTTCTTGATAA 0.398 31 72 --- --- --- --- PASS DTNA 1837 broad.mit.edu 37 18 32398154 32398154 + Missense_Mutation SNP T A A TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr18:32398154T>A uc010dmn.1 + 7 737 c.736T>A c.(736-738)TGC>AGC p.C246S DTNA_uc002kxu.2_Missense_Mutation_p.C246S|DTNA_uc010xbx.1_Intron|DTNA_uc002kxv.3_Missense_Mutation_p.C246S|DTNA_uc002kxw.2_Missense_Mutation_p.C246S|DTNA_uc002kxx.2_Missense_Mutation_p.C246S|DTNA_uc010dmj.2_Missense_Mutation_p.C246S|DTNA_uc002kxz.2_Missense_Mutation_p.C246S|DTNA_uc002kxy.2_Missense_Mutation_p.C246S|DTNA_uc010dmk.1_RNA|DTNA_uc010dml.2_Missense_Mutation_p.C246S|DTNA_uc002kyb.3_Missense_Mutation_p.C246S|DTNA_uc010dmm.2_Missense_Mutation_p.C246S|DTNA_uc010xby.1_5'UTR|DTNA_uc010dmo.2_5'Flank|DTNA_uc002kyd.3_5'Flank|DTNA_uc010xbz.1_5'Flank|DTNA_uc010xca.1_5'Flank|DTNA_uc002kye.2_5'Flank NM_001390 NP_001381 Q9Y4J8 DTNA_HUMAN dystrobrevin alpha isoform 1 246 Interaction with MAGEE1 (By similarity).|ZZ-type. neuromuscular synaptic transmission|signal transduction|striated muscle contraction cell junction|cytoplasm|synapse calcium ion binding|protein binding|zinc ion binding 0 GTGTTCCTACTGCCACAGTGA 0.468 21 61 --- --- --- --- PASS ELP2 55250 broad.mit.edu 37 18 33726217 33726217 + Missense_Mutation SNP G T T TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr18:33726217G>T uc002kzk.1 + 11 1008 c.998G>T c.(997-999)CGA>CTA p.R333L ELP2_uc010xcg.1_Missense_Mutation_p.R398L|ELP2_uc002kzl.1_RNA|ELP2_uc002kzm.1_Missense_Mutation_p.R307L|ELP2_uc010xch.1_Intron|ELP2_uc002kzn.1_Intron|ELP2_uc002kzo.1_Missense_Mutation_p.R263L NM_018255 NP_060725 Q6IA86 ELP2_HUMAN elongator protein 2 333 regulation of transcription from RNA polymerase II promoter Golgi apparatus|transcription elongation factor complex breast(2)|ovary(1)|skin(1) 4 GTACAGGTTCGAGTAGGTGAA 0.398 5 120 --- --- --- --- PASS C18orf10 25941 broad.mit.edu 37 18 34380196 34380196 + Missense_Mutation SNP C A A TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr18:34380196C>A uc002kzw.1 - 5 889 c.461G>T c.(460-462)GGG>GTG p.G154V C18orf10_uc002kzv.1_Missense_Mutation_p.G154V|C18orf10_uc010xci.1_Missense_Mutation_p.G119V|C18orf10_uc002kzx.1_Missense_Mutation_p.G111V|C18orf10_uc002kzy.3_Missense_Mutation_p.G154V NM_015476 NP_056291 Q68CL5 TPGS2_HUMAN tubulin polyglutamylase complex subunit 2 154 cytoplasm|microtubule skin(1) 1 GCAAACTTTCCCACTGCCATT 0.478 7 158 --- --- --- --- PASS ATP5A1 498 broad.mit.edu 37 18 43664494 43664494 + Missense_Mutation SNP T A A rs146748835 TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr18:43664494T>A uc002lbr.1 - 11 1646 c.1556A>T c.(1555-1557)CAC>CTC p.H519L ATP5A1_uc010dnl.1_Missense_Mutation_p.H469L|ATP5A1_uc002lbs.1_Missense_Mutation_p.H469L|ATP5A1_uc002lbt.1_Missense_Mutation_p.H519L NM_004046 NP_004037 P25705 ATPA_HUMAN ATP synthase, H+ transporting, mitochondrial F1 519 ATP hydrolysis coupled proton transport|embryo development|lipid metabolic process|negative regulation of endothelial cell proliferation|respiratory electron transport chain mitochondrial matrix|plasma membrane ATP binding|eukaryotic cell surface binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|MHC class I protein binding|proton-transporting ATPase activity, rotational mechanism 0 CAAGGCTTGGTGCTGGCTGAC 0.373 6 34 --- --- --- --- PASS NETO1 81832 broad.mit.edu 37 18 70526196 70526196 + Missense_Mutation SNP G T T TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr18:70526196G>T uc002lkw.2 - 4 618 c.334C>A c.(334-336)CCA>ACA p.P112T NETO1_uc002lkx.1_Missense_Mutation_p.P111T|NETO1_uc002lky.1_Missense_Mutation_p.P112T|NETO1_uc002lkz.2_Missense_Mutation_p.P111T NM_138966 NP_620416 Q8TDF5 NETO1_HUMAN neuropilin- and tolloid-like protein 1 isoform 3 112 CUB 1.|Extracellular (Potential). memory|regulation of long-term neuronal synaptic plasticity|visual learning cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane receptor activity ovary(2)|skin(2) 4 Esophageal squamous(42;0.129) READ - Rectum adenocarcinoma(1;0.0487) CCAATTATTGGAGAAAAGCCA 0.373 5 75 --- --- --- --- PASS TSHZ1 10194 broad.mit.edu 37 18 73000059 73000059 + Silent SNP C A A TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr18:73000059C>A uc002lly.2 + 2 3125 c.2562C>A c.(2560-2562)ATC>ATA p.I854I NM_005786 NP_005777 Q6ZSZ6 TSH1_HUMAN teashirt family zinc finger 1 899 Homeobox; atypical. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211) Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246) ACCTTCTCATCCTGCAGGCCC 0.602 6 17 --- --- --- --- PASS DIRAS1 148252 broad.mit.edu 37 19 2717615 2717615 + Missense_Mutation SNP C A A TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr19:2717615C>A uc002lwf.3 - 2 348 c.190G>T c.(190-192)GGC>TGC p.G64C NM_145173 NP_660156 O95057 DIRA1_HUMAN DIRAS family, GTP-binding RAS-like 1 64 GTP (By similarity). small GTPase mediated signal transduction intracellular|plasma membrane GTP binding|GTPase activity ovary(1) 1 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) TGGTGGCTGCCGGTGGTGTCT 0.627 8 18 --- --- --- --- PASS ARRDC5 645432 broad.mit.edu 37 19 4902594 4902594 + Missense_Mutation SNP G T T TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr19:4902594G>T uc002mbm.2 - 1 286 c.286C>A c.(286-288)CCA>ACA p.P96T NM_001080523 NP_001073992 A6NEK1 ARRD5_HUMAN arrestin domain containing 5 96 signal transduction 0 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0257) CCCTCCACTGGGAATGTCTTT 0.473 5 66 --- --- --- --- PASS INSR 3643 broad.mit.edu 37 19 7152890 7152890 + Missense_Mutation SNP T C C TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr19:7152890T>C uc002mgd.1 - 10 2187 c.2078A>G c.(2077-2079)GAT>GGT p.D693G INSR_uc002mge.1_Missense_Mutation_p.D693G|INSR_uc002mgf.2_Missense_Mutation_p.D693G NM_000208 NP_000199 P06213 INSR_HUMAN insulin receptor isoform Long precursor 693 Fibronectin type-III 1. activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus caveola|endosome membrane|insulin receptor complex|microsome ATP binding|GTP binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|PTB domain binding|receptor signaling protein tyrosine kinase activity|SH2 domain binding ovary(4)|lung(3)|central_nervous_system(2)|large_intestine(1)|stomach(1)|skin(1) 12 Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) CTTCTGAGAATCTTCAGACTC 0.532 21 77 --- --- --- --- PASS MUC16 94025 broad.mit.edu 37 19 9071136 9071136 + Missense_Mutation SNP T G G TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr19:9071136T>G uc002mkp.2 - 3 16514 c.16310A>C c.(16309-16311)CAA>CCA p.Q5437P NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 5439 Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 GACAGAGGATTGTGATTTATG 0.507 14 214 --- --- --- --- PASS MUC16 94025 broad.mit.edu 37 19 9074850 9074850 + Missense_Mutation SNP C T T TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr19:9074850C>T uc002mkp.2 - 3 12800 c.12596G>A c.(12595-12597)GGC>GAC p.G4199D NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 4201 Thr-rich.|Extracellular (Potential).|Ser-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 CTTCCCCAGGCCAGAGGTCTC 0.498 5 69 --- --- --- --- PASS RAD23A 5886 broad.mit.edu 37 19 13059563 13059563 + Missense_Mutation SNP G T T rs4987203 byFrequency TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr19:13059563G>T uc002mvw.1 + 5 645 c.536G>T c.(535-537)CGG>CTG p.R179L RAD23A_uc002mvx.1_Missense_Mutation_p.R179L|RAD23A_uc002mvz.1_Missense_Mutation_p.R179L|RAD23A_uc002mwa.1_Missense_Mutation_p.R179L|RAD23A_uc002mvy.1_Missense_Mutation_p.R14L|RAD23A_uc010xmw.1_Missense_Mutation_p.R14L NM_005053 NP_005044 P54725 RD23A_HUMAN UV excision repair protein RAD23 homolog A 179 UBA 1. interspecies interaction between organisms|nucleotide-excision repair|positive regulation of viral genome replication|proteasomal ubiquitin-dependent protein catabolic process|regulation of proteasomal ubiquitin-dependent protein catabolic process nucleus|proteasome complex damaged DNA binding|polyubiquitin binding|single-stranded DNA binding central_nervous_system(1) 1 GAGCGAGAGCGGGTCGTGGCC 0.622 NER 21 54 --- --- --- --- PASS LPHN1 22859 broad.mit.edu 37 19 14288365 14288365 + Missense_Mutation SNP C A A TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr19:14288365C>A uc010xnn.1 - 3 558 c.262G>T c.(262-264)GCC>TCC p.A88S LPHN1_uc010xno.1_Missense_Mutation_p.A88S NM_001008701 NP_001008701 O94910 LPHN1_HUMAN latrophilin 1 isoform 1 precursor 88 SUEL-type lectin.|Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|sugar binding ovary(2)|lung(2)|central_nervous_system(1) 5 ATCTTGAAGGCGTCCGGCAGG 0.567 27 91 --- --- --- --- PASS SLC1A6 6511 broad.mit.edu 37 19 15083565 15083565 + Missense_Mutation SNP A T T TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr19:15083565A>T uc002naa.1 - 1 166 c.158T>A c.(157-159)CTG>CAG p.L53Q SLC1A6_uc010dzu.1_Missense_Mutation_p.L53Q|SLC1A6_uc010xod.1_Silent_p.P57P|SLC1A6_uc002nab.2_Missense_Mutation_p.L53Q|SLC1A6_uc002nac.2_Missense_Mutation_p.L53Q|SLC1A6_uc002nad.1_Missense_Mutation_p.L53Q NM_005071 NP_005062 P48664 EAA4_HUMAN solute carrier family 1 (high affinity 53 Cytoplasmic (Potential). synaptic transmission integral to plasma membrane|membrane fraction high-affinity glutamate transmembrane transporter activity|L-aspartate transmembrane transporter activity|sodium:dicarboxylate symporter activity pancreas(3)|ovary(2)|skin(1) 6 L-Glutamic Acid(DB00142) GTTTCGGCGCAGGAAGCGCAG 0.657 4 20 --- --- --- --- PASS C19orf44 84167 broad.mit.edu 37 19 16611672 16611672 + Missense_Mutation SNP G T T TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr19:16611672G>T uc002neh.1 + 2 142 c.69G>T c.(67-69)TTG>TTT p.L23F MED26_uc002nee.2_Intron|C19orf44_uc002nef.1_Missense_Mutation_p.L23F|C19orf44_uc002neg.2_Missense_Mutation_p.L23F|C19orf44_uc010eai.1_RNA NM_032207 NP_115583 Q9H6X5 CS044_HUMAN hypothetical protein LOC84167 23 0 ATGTTTCCTTGGAAGATTCAA 0.413 5 84 --- --- --- --- PASS ZNF682 91120 broad.mit.edu 37 19 20117806 20117806 + Missense_Mutation SNP T C C TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr19:20117806T>C uc002noq.2 - 4 628 c.505A>G c.(505-507)ACA>GCA p.T169A ZNF682_uc002noo.2_Missense_Mutation_p.T137A|ZNF682_uc002nop.2_Missense_Mutation_p.T137A|ZNF682_uc010eck.2_Missense_Mutation_p.T93A NM_033196 NP_149973 O95780 ZN682_HUMAN zinc finger protein 682 isoform 1 169 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|pancreas(1) 2 AGTTTCTCTGTAGTATGTCTT 0.308 7 10 --- --- --- --- PASS ZNF714 148206 broad.mit.edu 37 19 21300743 21300743 + Nonsense_Mutation SNP A T T TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr19:21300743A>T uc002npo.3 + 6 1636 c.1276A>T c.(1276-1278)AAA>TAA p.K426* ZNF714_uc002npl.2_Nonsense_Mutation_p.K271*|ZNF714_uc010ecp.1_Nonsense_Mutation_p.K377*|ZNF714_uc002npn.2_RNA NM_182515 NP_872321 Q96N38 ZN714_HUMAN zinc finger protein 714 426 C2H2-type 12. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 GAAACTCTACAAATGTGAAGA 0.373 19 47 --- --- --- --- PASS ZNF99 7652 broad.mit.edu 37 19 22939151 22939151 + Silent SNP G T T TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr19:22939151G>T uc010xrh.1 - 8 2967 c.2967C>A c.(2965-2967)GCC>GCA p.A989A NM_001080409 NP_001073878 zinc finger protein 99 ovary(1)|skin(1) 2 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102) ACTGGTTAAAGGCTTTGCCAC 0.373 5 68 --- --- --- --- PASS ZNF675 171392 broad.mit.edu 37 19 23836363 23836363 + Missense_Mutation SNP C A A TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr19:23836363C>A uc002nri.2 - 4 1554 c.1372G>T c.(1372-1374)GGC>TGC p.G458C NM_138330 NP_612203 Q8TD23 ZN675_HUMAN zinc finger protein 675 458 C2H2-type 12. bone resorption|cytokine-mediated signaling pathway|hemopoiesis|I-kappaB kinase/NF-kappaB cascade|negative regulation of JNK cascade|negative regulation of osteoclast differentiation|negative regulation of protein kinase activity|negative regulation of transcription, DNA-dependent|regulation of ossification|transcription, DNA-dependent cytoplasm|nucleus DNA binding|protein binding|zinc ion binding ovary(1)|kidney(1) 2 all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206) AAAGCTTTGCCACATTCTTCA 0.353 6 40 --- --- --- --- PASS PLEKHF1 79156 broad.mit.edu 37 19 30164785 30164785 + Missense_Mutation SNP G C C TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr19:30164785G>C uc002nsh.3 + 2 141 c.39G>C c.(37-39)CAG>CAC p.Q13H PLEKHF1_uc002nsi.3_Missense_Mutation_p.Q98H NM_024310 NP_077286 Q96S99 PKHF1_HUMAN apoptosis-inducing protein D 13 apoptosis lysosome|nucleus|perinuclear region of cytoplasm metal ion binding 0 Ovarian(5;0.000567)|Breast(6;0.0602)|Esophageal squamous(110;0.239) UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|STAD - Stomach adenocarcinoma(5;1.7e-06)|Lung(7;0.0623)|LUAD - Lung adenocarcinoma(5;0.0989)|BRCA - Breast invasive adenocarcinoma(6;0.225) TCAACAGCCAGCGCATCGCGG 0.667 12 32 --- --- --- --- PASS ZNF420 147923 broad.mit.edu 37 19 37618677 37618677 + Missense_Mutation SNP C G G TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr19:37618677C>G uc002ofl.2 + 5 999 c.784C>G c.(784-786)CAG>GAG p.Q262E NM_144689 NP_653290 Q8TAQ5 ZN420_HUMAN zinc finger protein 420 262 C2H2-type 5. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) GGCCTTTACTCAGAATTCACA 0.388 24 62 --- --- --- --- PASS RASGRP4 115727 broad.mit.edu 37 19 38911579 38911579 + Missense_Mutation SNP G T T TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr19:38911579G>T uc002oir.2 - 4 560 c.346C>A c.(346-348)CTG>ATG p.L116M RASGRP4_uc010efz.1_RNA|RASGRP4_uc010ega.1_RNA|RASGRP4_uc010xua.1_Missense_Mutation_p.L116M|RASGRP4_uc010xub.1_Missense_Mutation_p.L116M|RASGRP4_uc010xuc.1_Missense_Mutation_p.L116M|RASGRP4_uc010xud.1_Missense_Mutation_p.L116M|RASGRP4_uc010xue.1_Missense_Mutation_p.L116M|RASGRP4_uc010egb.2_Missense_Mutation_p.L116M NM_170604 NP_733749 Q8TDF6 GRP4_HUMAN RAS guanyl releasing protein 4 isoform a 116 N-terminal Ras-GEF. activation of phospholipase C activity|cell growth|cell proliferation|myeloid cell differentiation|positive regulation of Ras protein signal transduction|regulation of G-protein coupled receptor protein signaling pathway|response to extracellular stimulus|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway cytoplasm|membrane fraction|plasma membrane|soluble fraction diacylglycerol binding|GTP-dependent protein binding|metal ion binding|Ras guanyl-nucleotide exchange factor activity pancreas(1)|lung(1)|skin(1) 3 all_cancers(60;4.21e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) AGCCGTCTCAGCTCCTGGGTG 0.577 17 44 --- --- --- --- PASS RYR1 6261 broad.mit.edu 37 19 38993342 38993342 + Missense_Mutation SNP G A A TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr19:38993342G>A uc002oit.2 + 48 7940 c.7810G>A c.(7810-7812)GAG>AAG p.E2604K RYR1_uc002oiu.2_Missense_Mutation_p.E2604K|RYR1_uc002oiv.1_5'UTR NM_000540 NP_000531 P21817 RYR1_HUMAN skeletal muscle ryanodine receptor isoform 1 2604 Cytoplasmic.|6 X approximate repeats. muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1) 12 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) TGACGTCATCGAGGACTGCCT 0.458 6 12 --- --- --- --- PASS MAP4K1 11184 broad.mit.edu 37 19 39100635 39100635 + Silent SNP G T T TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr19:39100635G>T uc002oix.1 - 12 949 c.841C>A c.(841-843)CGA>AGA p.R281R MAP4K1_uc002oiw.1_5'Flank|MAP4K1_uc002oiy.1_Silent_p.R281R|MAP4K1_uc010xug.1_5'UTR NM_007181 NP_009112 Q92918 M4K1_HUMAN mitogen-activated protein kinase kinase kinase 281 activation of JUN kinase activity|peptidyl-serine phosphorylation ATP binding|MAP kinase kinase kinase kinase activity|protein binding|small GTPase regulator activity skin(4)|lung(3)|ovary(1) 8 all_cancers(60;6.42e-06)|Ovarian(47;0.103) Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272) ATCAGGCCTCGATTCAGCCCA 0.577 16 30 --- --- --- --- PASS FCGBP 8857 broad.mit.edu 37 19 40368472 40368472 + Silent SNP G A A TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr19:40368472G>A uc002omp.3 - 28 12884 c.12876C>T c.(12874-12876)ACC>ACT p.T4292T NM_003890 NP_003881 Q9Y6R7 FCGBP_HUMAN Fc fragment of IgG binding protein precursor 4292 VWFD 10. extracellular region protein binding ovary(4)|skin(4)|central_nervous_system(1) 9 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) CATGGCAGGTGGTGAAGGGGC 0.627 13 61 --- --- --- --- PASS FCGBP 8857 broad.mit.edu 37 19 40433521 40433521 + Missense_Mutation SNP T A A TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr19:40433521T>A uc002omp.3 - 2 756 c.748A>T c.(748-750)ACC>TCC p.T250S NM_003890 NP_003881 Q9Y6R7 FCGBP_HUMAN Fc fragment of IgG binding protein precursor 250 IgGFc-binding. extracellular region protein binding ovary(4)|skin(4)|central_nervous_system(1) 9 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) ACATAGTGGGTGCCCCAGGCA 0.582 13 23 --- --- --- --- PASS ATP1A3 478 broad.mit.edu 37 19 42486229 42486229 + Missense_Mutation SNP C A A TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr19:42486229C>A uc002osg.2 - 9 1177 c.1023G>T c.(1021-1023)ATG>ATT p.M341I ATP1A3_uc010xwf.1_Missense_Mutation_p.M352I|ATP1A3_uc010xwg.1_Missense_Mutation_p.M311I|ATP1A3_uc010xwh.1_Missense_Mutation_p.M354I|ATP1A3_uc002osh.2_Missense_Mutation_p.M341I NM_152296 NP_689509 P13637 AT1A3_HUMAN Na+/K+ -ATPase alpha 3 subunit 341 Cytoplasmic (Potential). ATP biosynthetic process endoplasmic reticulum|Golgi apparatus ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity ovary(1)|pancreas(1) 2 tcttccGGGCCATGCGCTTGG 0.478 18 59 --- --- --- --- PASS PSG1 5669 broad.mit.edu 37 19 43375969 43375969 + Missense_Mutation SNP C T T TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr19:43375969C>T uc002ovb.2 - 3 797 c.659G>A c.(658-660)CGG>CAG p.R220Q PSG3_uc002ouf.2_Intron|PSG1_uc002oug.1_Missense_Mutation_p.R220Q|PSG11_uc002ouw.2_Intron|PSG7_uc002ous.1_Intron|PSG7_uc002out.1_Intron|PSG10_uc002ouv.1_Intron|PSG1_uc002oun.2_RNA|PSG1_uc002our.1_Missense_Mutation_p.R220Q|PSG1_uc010eio.1_Missense_Mutation_p.R220Q|PSG1_uc002oux.1_Missense_Mutation_p.R149Q|PSG1_uc002ouy.1_Missense_Mutation_p.R220Q|PSG1_uc002ouz.1_Missense_Mutation_p.R220Q|PSG1_uc002ova.1_Intron|PSG1_uc002ovc.2_Intron|PSG1_uc002ovd.1_Missense_Mutation_p.R220Q NM_006905 NP_008836 P11464 PSG1_HUMAN pregnancy specific beta-1-glycoprotein 1 220 Ig-like C2-type 1. female pregnancy extracellular region ovary(2) 2 Prostate(69;0.00682) CACTGGGTTCCGTATTTCACA 0.517 8 294 --- --- --- --- PASS PSG7 5676 broad.mit.edu 37 19 43430142 43430142 + Silent SNP G A A TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr19:43430142G>A uc002ovl.3 - 6 1128 c.1026C>T c.(1024-1026)ACC>ACT p.T342T PSG3_uc002ouf.2_Intron|PSG11_uc002ouw.2_Silent_p.T255T|PSG7_uc002ous.1_RNA|PSG7_uc002out.1_Silent_p.T68T|PSG10_uc002ouv.1_Intron|PSG6_uc002ovh.1_Intron|PSG6_uc002ovi.2_Intron|PSG6_uc010xwk.1_Intron|PSG11_uc002ovk.1_Silent_p.T255T|PSG7_uc010xwl.1_Silent_p.T220T NM_002783 NP_002774 Q13046 PSG7_HUMAN pregnancy specific beta-1-glycoprotein 7 342 Ig-like C2-type 3. female pregnancy extracellular region 0 Prostate(69;0.00682) AATGGTAATAGGTGAATGAAG 0.478 44 150 --- --- --- --- PASS BCAM 4059 broad.mit.edu 37 19 45317915 45317915 + Nonsense_Mutation SNP G T T TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr19:45317915G>T uc002ozu.2 + 8 1020 c.976G>T c.(976-978)GGA>TGA p.G326* BCAM_uc002ozt.1_Nonsense_Mutation_p.G326* NM_005581 NP_005572 P50895 BCAM_HUMAN basal cell adhesion molecule isoform 1 326 Extracellular (Potential).|Ig-like C2-type 1. cell-matrix adhesion integral to plasma membrane laminin binding|laminin receptor activity skin(1) 1 Lung NSC(12;0.000789)|all_lung(12;0.00218) Ovarian(192;0.0728)|all_neural(266;0.112) GACCCTGGAGGGAGTGACCCG 0.632 12 27 --- --- --- --- PASS RSPH6A 81492 broad.mit.edu 37 19 46313920 46313920 + Missense_Mutation SNP C G G TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr19:46313920C>G uc002pdm.2 - 2 972 c.829G>C c.(829-831)GCG>CCG p.A277P RSPH6A_uc002pdl.2_Missense_Mutation_p.A13P NM_030785 NP_110412 Q9H0K4 RSH6A_HUMAN radial spokehead-like 1 277 intracellular ovary(1)|central_nervous_system(1) 2 GTGAACAGCGCCTTCTGTTTC 0.632 22 62 --- --- --- --- PASS HRC 3270 broad.mit.edu 37 19 49658431 49658431 + Missense_Mutation SNP G A A TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr19:49658431G>A uc002pmv.2 - 1 251 c.64C>T c.(64-66)CTC>TTC p.L22F TRPM4_uc002pmw.2_5'Flank|TRPM4_uc010emu.2_5'Flank|TRPM4_uc010yak.1_5'Flank|TRPM4_uc002pmx.2_5'Flank|TRPM4_uc010emv.2_5'Flank|TRPM4_uc010yal.1_5'Flank NM_002152 NP_002143 P23327 SRCH_HUMAN histidine rich calcium binding protein 22 muscle contraction sarcoplasmic reticulum lumen calcium ion binding ovary(1) 1 all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392) all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622) GCCGGGGGGAGGAGCAGGCTG 0.667 11 15 --- --- --- --- PASS KLK15 55554 broad.mit.edu 37 19 51329879 51329879 + Missense_Mutation SNP C T T TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr19:51329879C>T uc002ptl.2 - 4 647 c.616G>A c.(616-618)GAG>AAG p.E206K KLK1_uc002ptk.1_5'Flank|KLK1_uc010ycg.1_5'Flank|KLK15_uc002ptm.2_Intron|KLK15_uc002ptn.2_Intron|KLK15_uc002pto.2_Missense_Mutation_p.E205K|KLK15_uc010ych.1_RNA|KLK15_uc010yci.1_Intron|KLK15_uc010eod.2_Intron NM_017509 NP_059979 Q9H2R5 KLK15_HUMAN kallikrein-related peptidase 15 isoform 4 206 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity lung(1)|breast(1) 2 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.0143) GCTCTGACCTCACAGGATTCT 0.582 11 56 --- --- --- --- PASS KLK5 25818 broad.mit.edu 37 19 51452188 51452188 + Silent SNP G A A TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr19:51452188G>A uc002pue.2 - 5 737 c.519C>T c.(517-519)AAC>AAT p.N173N KLK5_uc002puf.2_Silent_p.N173N|KLK5_uc002pug.2_Silent_p.N173N NM_001077491 NP_001070959 Q9Y337 KLK5_HUMAN kallikrein-related peptidase 5 preproprotein 173 Peptidase S1. epidermis development|positive regulation of G-protein coupled receptor protein signaling pathway|proteolysis extracellular space protein binding|serine-type endopeptidase activity 0 all_neural(266;0.026) OV - Ovarian serous cystadenocarcinoma(262;0.00379)|GBM - Glioblastoma multiforme(134;0.00888) GAGAGGAGACGTTGATGGGTC 0.537 8 30 --- --- --- --- PASS ZNF613 79898 broad.mit.edu 37 19 52448633 52448633 + Silent SNP C T T TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr19:52448633C>T uc002pxz.1 + 6 1920 c.1497C>T c.(1495-1497)CTC>CTT p.L499L ZNF613_uc002pya.1_Silent_p.L463L NM_001031721 NP_001026891 Q6PF04 ZN613_HUMAN zinc finger protein 613 isoform 1 499 C2H2-type 11. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 all_neural(266;0.117) GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.0183) AATCATGTCTCAACAGACATC 0.448 15 33 --- --- --- --- PASS ZNF677 342926 broad.mit.edu 37 19 53741317 53741317 + Silent SNP G T T TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr19:53741317G>T uc002qbf.1 - 5 848 c.663C>A c.(661-663)ATC>ATA p.I221I ZNF677_uc002qbg.1_Silent_p.I221I NM_182609 NP_872415 Q86XU0 ZN677_HUMAN zinc finger protein 677 221 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 GBM - Glioblastoma multiforme(134;0.00352) AGGAACTATTGATAGACTTCT 0.343 8 32 --- --- --- --- PASS NLRP12 91662 broad.mit.edu 37 19 54314451 54314451 + Missense_Mutation SNP G T T TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr19:54314451G>T uc002qch.3 - 3 682 c.462C>A c.(460-462)AGC>AGA p.S154R NLRP12_uc010eqw.2_5'Flank|NLRP12_uc002qci.3_Missense_Mutation_p.S154R|NLRP12_uc002qcj.3_Missense_Mutation_p.S154R|NLRP12_uc002qck.3_RNA|NLRP12_uc010eqx.2_Missense_Mutation_p.S154R NM_144687 NP_653288 P59046 NAL12_HUMAN NLR family, pyrin domain containing 12 isoform 154 negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB cytoplasm ATP binding|caspase activator activity|protein binding ovary(4)|upper_aerodigestive_tract(2)|lung(1) 7 Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.026) TGTACCGGTGGCTGAGGTTGA 0.617 25 62 --- --- --- --- PASS ZNF667 63934 broad.mit.edu 37 19 56953379 56953379 + Missense_Mutation SNP G T T TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr19:56953379G>T uc002qnd.2 - 5 1147 c.985C>A c.(985-987)CCT>ACT p.P329T ZNF667_uc010etl.2_Missense_Mutation_p.P111T|ZNF667_uc002qne.2_Missense_Mutation_p.P329T|ZNF667_uc010etm.2_Missense_Mutation_p.P272T NM_022103 NP_071386 Q5HYK9 ZN667_HUMAN zinc finger protein 667 329 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding pancreas(1) 1 Colorectal(82;0.000256)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0615) CATTTAAAAGGATTCTCTAAA 0.368 15 66 --- --- --- --- PASS ZNF835 90485 broad.mit.edu 37 19 57175029 57175029 + Missense_Mutation SNP G T T TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr19:57175029G>T uc010ygo.1 - 2 1604 c.1604C>A c.(1603-1605)CCT>CAT p.P535H ZNF835_uc010ygn.1_Missense_Mutation_p.P513H NM_001005850 NP_001005850 zinc finger protein 835 pancreas(3)|skin(1) 4 TGAGAGCCCAGGTGTTGAGTC 0.602 5 77 --- --- --- --- PASS PEG3 5178 broad.mit.edu 37 19 57326183 57326183 + Silent SNP C A A TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr19:57326183C>A uc002qnu.2 - 7 3978 c.3627G>T c.(3625-3627)CGG>CGT p.R1209R ZIM2_uc010ygq.1_Intron|ZIM2_uc010ygr.1_Intron|ZIM2_uc002qnr.2_Intron|ZIM2_uc002qnq.2_Intron|ZIM2_uc010etp.2_Intron|ZIM2_uc010ygs.1_Intron|PEG3_uc002qnt.2_Silent_p.R1180R|PEG3_uc002qnv.2_Silent_p.R1209R|PEG3_uc002qnw.2_Silent_p.R1085R|PEG3_uc002qnx.2_Silent_p.R1083R|PEG3_uc010etr.2_Silent_p.R1209R NM_001146186 NP_001139658 Q9GZU2 PEG3_HUMAN paternally expressed 3 isoform 1 1209 apoptosis|viral reproduction cytoplasm|nucleus nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1) 12 Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0269) CACGATTCCTCCGTGGCTTCA 0.493 28 70 --- --- --- --- PASS PEG3 5178 broad.mit.edu 37 19 57327459 57327459 + Missense_Mutation SNP G T T TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr19:57327459G>T uc002qnu.2 - 7 2702 c.2351C>A c.(2350-2352)TCT>TAT p.S784Y ZIM2_uc010ygq.1_Intron|ZIM2_uc010ygr.1_Intron|ZIM2_uc002qnr.2_Intron|ZIM2_uc002qnq.2_Intron|ZIM2_uc010etp.2_Intron|ZIM2_uc010ygs.1_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.S755Y|PEG3_uc002qnv.2_Missense_Mutation_p.S784Y|PEG3_uc002qnw.2_Missense_Mutation_p.S660Y|PEG3_uc002qnx.2_Missense_Mutation_p.S658Y|PEG3_uc010etr.2_Missense_Mutation_p.S784Y NM_001146186 NP_001139658 Q9GZU2 PEG3_HUMAN paternally expressed 3 isoform 1 784 apoptosis|viral reproduction cytoplasm|nucleus nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1) 12 Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0269) AGCTTCCACAGAGGCTAAGCT 0.428 6 142 --- --- --- --- PASS ZIM3 114026 broad.mit.edu 37 19 57646983 57646983 + Missense_Mutation SNP T G G TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr19:57646983T>G uc002qnz.1 - 5 1108 c.722A>C c.(721-723)CAT>CCT p.H241P NM_052882 NP_443114 Q96PE6 ZIM3_HUMAN zinc finger, imprinted 3 241 C2H2-type 3. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding pancreas(1)|skin(1) 2 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) CATTTTCTGATGTTGAAAGAG 0.373 13 58 --- --- --- --- PASS ZSCAN4 201516 broad.mit.edu 37 19 58187877 58187877 + Missense_Mutation SNP C A A TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr19:58187877C>A uc002qpu.2 + 3 1061 c.364C>A c.(364-366)CTG>ATG p.L122M NM_152677 NP_689890 Q8NAM6 ZSCA4_HUMAN zinc finger and SCAN domain containing 4 122 SCAN box. telomere maintenance via telomere lengthening|viral reproduction nuclear chromosome, telomeric region DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1) 1 Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) CATAGAAGACCTGACTGATGA 0.423 15 39 --- --- --- --- PASS PANK2 80025 broad.mit.edu 37 20 3888926 3888926 + Splice_Site SNP G A A TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr20:3888926G>A uc002wkc.2 + 2 987 c.981_splice c.e2+1 p.T327_splice PANK2_uc002wkb.2_Splice_Site_p.T36_splice|PANK2_uc010gbd.1_Splice_Site|PANK2_uc002wkd.2_Intron|PANK2_uc002wke.2_Splice_Site_p.T36_splice|PANK2_uc002wkf.2_Intron NM_153638 NP_705902 Q9BZ23 PANK2_HUMAN pantothenate kinase 2 isoform 1 preproprotein cell death|coenzyme A biosynthetic process|pantothenate metabolic process mitochondrial intermembrane space|nucleus ATP binding|pantothenate kinase activity|protein binding 0 TTTTCTCACAGTATGCATTTT 0.348 6 16 --- --- --- --- PASS ASXL1 171023 broad.mit.edu 37 20 31022723 31022723 + Silent SNP A T T TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr20:31022723A>T uc002wxs.2 + 12 2634 c.2208A>T c.(2206-2208)ACA>ACT p.T736T ASXL1_uc010geb.2_Silent_p.T627T NM_015338 NP_056153 Q8IXJ9 ASXL1_HUMAN additional sex combs like 1 isoform 1 736 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent PR-DUB complex metal ion binding|protein binding haematopoietic_and_lymphoid_tissue(239)|large_intestine(6)|central_nervous_system(2)|ovary(1) 248 AGAGGGCTACAGTTGGACTCA 0.592 F|N|Mis MDS|CMML 6 25 --- --- --- --- PASS DNMT3B 1789 broad.mit.edu 37 20 31381363 31381363 + Missense_Mutation SNP G A A rs138596278 TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr20:31381363G>A uc002wyc.2 + 10 1409 c.1088G>A c.(1087-1089)CGT>CAT p.R363H DNMT3B_uc010ztx.1_Intron|DNMT3B_uc010zty.1_Intron|DNMT3B_uc002wyd.2_Intron|DNMT3B_uc002wye.2_Intron|DNMT3B_uc010gee.2_Intron|DNMT3B_uc010gef.2_Intron|DNMT3B_uc010ztz.1_Intron|DNMT3B_uc010zua.1_Intron|DNMT3B_uc002wyf.2_Intron|DNMT3B_uc002wyg.2_Missense_Mutation_p.R62H NM_006892 NP_008823 Q9UBC3 DNM3B_HUMAN DNA cytosine-5 methyltransferase 3 beta isoform 363 negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation metal ion binding|protein binding|transcription corepressor activity lung(3)|ovary(2) 5 tcgaaggtgcgtcgtgcaggc 0.134 6 19 --- --- --- --- PASS CTNNBL1 56259 broad.mit.edu 37 20 36375010 36375010 + Splice_Site SNP A T T TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr20:36375010A>T uc010zvw.1 + 4 556 c.465_splice c.e4+2 p.T155_splice CTNNBL1_uc002xhh.2_5'UTR|CTNNBL1_uc010zvv.1_Missense_Mutation_p.D129V NM_030877 NP_110517 Q8WYA6 CTBL1_HUMAN beta catenin-like 1 apoptosis|positive regulation of apoptosis|somatic diversification of immunoglobulins nucleus enzyme binding ovary(2) 2 Myeloproliferative disorder(115;0.00878) GATAATACAGATATCCTTTCA 0.498 5 54 --- --- --- --- PASS CHD6 84181 broad.mit.edu 37 20 40068760 40068760 + Missense_Mutation SNP C T T TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr20:40068760C>T uc002xka.1 - 26 4065 c.3887G>A c.(3886-3888)AGG>AAG p.R1296K CHD6_uc002xkb.1_Missense_Mutation_p.R62K NM_032221 NP_115597 Q8TD26 CHD6_HUMAN chromodomain helicase DNA binding protein 6 1296 chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding ovary(6)|skin(5)|lung(2)|central_nervous_system(1) 14 Myeloproliferative disorder(115;0.00425) GGCATTGTACCTTTCATAACC 0.443 10 42 --- --- --- --- PASS SLC12A5 57468 broad.mit.edu 37 20 44675020 44675020 + Missense_Mutation SNP G T T TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr20:44675020G>T uc010zxl.1 + 14 1877 c.1801G>T c.(1801-1803)GTG>TTG p.V601L SLC12A5_uc010zxm.1_RNA|SLC12A5_uc002xrb.2_Missense_Mutation_p.V578L NM_001134771 NP_001128243 Q9H2X9 S12A5_HUMAN solute carrier family 12 (potassium-chloride 601 Cytoplasmic (Potential). potassium ion transport|sodium ion transport integral to membrane potassium:chloride symporter activity ovary(2)|large_intestine(1)|central_nervous_system(1)|skin(1) 5 Myeloproliferative disorder(115;0.0122) Bumetanide(DB00887)|Potassium Chloride(DB00761) GGCCTGTGCAGTGCAGACGCT 0.552 7 35 --- --- --- --- PASS CASS4 57091 broad.mit.edu 37 20 55027876 55027876 + Silent SNP G A A TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr20:55027876G>A uc002xxp.2 + 6 1869 c.1644G>A c.(1642-1644)GTG>GTA p.V548V CASS4_uc002xxq.3_Silent_p.V548V|CASS4_uc002xxr.2_Silent_p.V548V|CASS4_uc010zze.1_Silent_p.V494V|CASS4_uc010gio.2_Intron NM_001164116 NP_001157588 Q9NQ75 CASS4_HUMAN HEF-like protein isoform a 548 cell adhesion cytoplasm|cytoskeleton|focal adhesion two-component sensor activity ovary(2)|skin(1) 3 AAGTTCTTGTGACTGACAGTG 0.493 6 35 --- --- --- --- PASS EDN3 1908 broad.mit.edu 37 20 57896155 57896155 + Missense_Mutation SNP A T T TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr20:57896155A>T uc002yap.2 + 3 818 c.449A>T c.(448-450)CAG>CTG p.Q150L EDN3_uc002yao.1_Missense_Mutation_p.Q150L|EDN3_uc002yaq.2_Missense_Mutation_p.Q150L|EDN3_uc002yar.2_Missense_Mutation_p.Q150L|EDN3_uc002yas.2_Missense_Mutation_p.Q150L NM_000114 NP_000105 P14138 EDN3_HUMAN endothelin 3 isoform 1 preproprotein 150 cell surface receptor linked signaling pathway|inositol phosphate-mediated signaling|neutrophil chemotaxis|peptide hormone secretion|positive regulation of heart rate|positive regulation of hormone secretion|positive regulation of leukocyte chemotaxis|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of systemic arterial blood pressure by endothelin|regulation of vasoconstriction|vein smooth muscle contraction extracellular space|soluble fraction endothelin B receptor binding|hormone activity skin(1) 1 all_lung(29;0.0115) GGGAATCTGCAGCTCTCACAT 0.577 11 37 --- --- --- --- PASS RTEL1 51750 broad.mit.edu 37 20 62319501 62319501 + Silent SNP G A A rs114292675 byFrequency TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr20:62319501G>A uc002yfu.1 + 19 1948 c.1605G>A c.(1603-1605)GAG>GAA p.E535E RTEL1_uc011abc.1_RNA|RTEL1_uc002yft.1_Silent_p.E535E|RTEL1_uc011abd.1_Silent_p.E559E|RTEL1_uc011abe.1_Silent_p.E312E|RTEL1_uc002yfw.2_RNA|RTEL1_uc002yfx.1_5'Flank NM_016434 NP_057518 Q9NZ71 RTEL1_HUMAN regulator of telomere elongation helicase 1 535 DNA repair|regulation of double-strand break repair via homologous recombination|telomere maintenance nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding 0 all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13) Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107) GGTTTTCCGAGGAGTGCTTAT 0.657 8 34 --- --- --- --- PASS UMODL1 89766 broad.mit.edu 37 21 43510517 43510517 + Silent SNP G T T TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr21:43510517G>T uc002zaf.1 + 6 900 c.900G>T c.(898-900)ACG>ACT p.T300T UMODL1_uc002zad.1_Silent_p.T228T|UMODL1_uc002zae.1_Silent_p.T228T|UMODL1_uc002zag.1_Silent_p.T300T|UMODL1_uc010gow.1_Silent_p.T92T|UMODL1_uc002zai.1_5'UTR|UMODL1_uc010gox.1_RNA|UMODL1_uc010goy.1_5'UTR|UMODL1_uc002zaj.1_RNA|UMODL1_uc010goz.1_Intron NM_001004416 NP_001004416 Q5DID0 UROL1_HUMAN uromodulin-like 1 isoform 1 precursor 300 Extracellular (Potential).|EGF-like 1; calcium-binding (Potential). cytoplasm|extracellular region|integral to membrane|plasma membrane calcium ion binding|peptidase inhibitor activity ovary(2)|skin(1) 3 CTCCAGCCACGTCTCCACGGA 0.478 19 25 --- --- --- --- PASS DIP2A 23181 broad.mit.edu 37 21 47931501 47931501 + Missense_Mutation SNP G T T TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr21:47931501G>T uc002zjo.2 + 8 1259 c.1076G>T c.(1075-1077)GGG>GTG p.G359V DIP2A_uc011afy.1_Missense_Mutation_p.G295V|DIP2A_uc011afz.1_Missense_Mutation_p.G355V|DIP2A_uc002zjl.2_Missense_Mutation_p.G359V|DIP2A_uc002zjm.2_Missense_Mutation_p.G359V|DIP2A_uc010gql.2_Missense_Mutation_p.G316V|DIP2A_uc002zjn.2_Missense_Mutation_p.G359V|DIP2A_uc002zjp.1_Missense_Mutation_p.G104V NM_015151 NP_055966 Q14689 DIP2A_HUMAN disco-interacting protein 2A isoform a 359 multicellular organismal development nucleus catalytic activity|transcription factor binding ovary(2) 2 Breast(49;0.0933) Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824) GATACAACTGGGAAAGCCGTC 0.537 5 20 --- --- --- --- PASS CCT8L2 150160 broad.mit.edu 37 22 17073266 17073266 + Missense_Mutation SNP A G G TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr22:17073266A>G uc002zlp.1 - 1 435 c.175T>C c.(175-177)TTC>CTC p.F59L NM_014406 NP_055221 Q96SF2 TCPQM_HUMAN T-complex protein 1 59 cellular protein metabolic process cytoplasm anion channel activity|ATP binding|calcium-activated potassium channel activity ovary(1) 1 all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977) all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175) GTCACCAGGAACTTCTGCCGG 0.642 6 31 --- --- --- --- PASS CRYBB2 1415 broad.mit.edu 37 22 25627687 25627687 + Missense_Mutation SNP G T T TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr22:25627687G>T uc003abp.1 + 6 614 c.566G>T c.(565-567)CGT>CTT p.R189L NM_000496 NP_000487 P43320 CRBB2_HUMAN crystallin, beta B2 189 Beta/gamma crystallin 'Greek key' 4. response to stimulus|visual perception structural constituent of eye lens 0 TCCGTGCGCCGTATCCGCGAC 0.652 19 53 --- --- --- --- PASS MYO18B 84700 broad.mit.edu 37 22 26231332 26231332 + Missense_Mutation SNP C A A TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr22:26231332C>A uc003abz.1 + 17 3380 c.3130C>A c.(3130-3132)CAT>AAT p.H1044N MYO18B_uc003aca.1_Missense_Mutation_p.H925N|MYO18B_uc010guy.1_Missense_Mutation_p.H926N|MYO18B_uc010guz.1_Missense_Mutation_p.H925N|MYO18B_uc011aka.1_Missense_Mutation_p.H198N|MYO18B_uc011akb.1_Missense_Mutation_p.H557N NM_032608 NP_115997 Q8IUG5 MY18B_HUMAN myosin XVIIIB 1044 Myosin head-like. nucleus|sarcomere|unconventional myosin complex actin binding|ATP binding|motor activity ovary(5)|central_nervous_system(3)|large_intestine(2)|breast(2) 12 TGAGGAAGTCCATGTAGAGGG 0.582 7 38 --- --- --- --- PASS KREMEN1 83999 broad.mit.edu 37 22 29534767 29534767 + Missense_Mutation SNP C G G TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr22:29534767C>G uc011akm.1 + 7 1133 c.1120C>G c.(1120-1122)CCA>GCA p.P374A KREMEN1_uc003ael.2_Missense_Mutation_p.P374A|KREMEN1_uc011akn.1_Missense_Mutation_p.P257A NM_032045 NP_114434 Q96MU8 KREM1_HUMAN kringle-containing transmembrane protein 1 372 Extracellular (Potential). cell communication|regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway integral to membrane|membrane fraction protein binding ovary(3)|lung(2) 5 TCAGACTGTCCCAGGTAGCAA 0.572 5 35 --- --- --- --- PASS FBXO7 25793 broad.mit.edu 37 22 32889094 32889094 + Missense_Mutation SNP C G G TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr22:32889094C>G uc003amq.2 + 7 1253 c.970C>G c.(970-972)CTG>GTG p.L324V FBXO7_uc003amr.2_Missense_Mutation_p.L210V|FBXO7_uc003ams.2_Missense_Mutation_p.L168V|FBXO7_uc003amt.2_Missense_Mutation_p.L245V|FBXO7_uc003amu.2_Missense_Mutation_p.L210V|FBXO7_uc003amv.2_Missense_Mutation_p.L23V NM_012179 NP_036311 Q9Y3I1 FBX7_HUMAN F-box only protein 7 isoform 1 324 cell death|regulation of protein stability|ubiquitin-dependent protein catabolic process ubiquitin ligase complex protein binding|ubiquitin-protein ligase activity ovary(1) 1 CCTTTTAGCACTGAACCTACC 0.423 23 42 --- --- --- --- PASS LARGE 9215 broad.mit.edu 37 22 33712090 33712090 + Missense_Mutation SNP C T T TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr22:33712090C>T uc003and.3 - 12 2011 c.1432G>A c.(1432-1434)GCT>ACT p.A478T LARGE_uc011amd.1_Missense_Mutation_p.A277T|LARGE_uc003ane.3_Missense_Mutation_p.A478T|LARGE_uc010gwp.2_Missense_Mutation_p.A426T|LARGE_uc011ame.1_Missense_Mutation_p.A410T|LARGE_uc011amf.1_Missense_Mutation_p.A478T|LARGE_uc010gwq.1_RNA NM_004737 NP_004728 O95461 LARGE_HUMAN like-glycosyltransferase 478 Lumenal (Potential). glycosphingolipid biosynthetic process|muscle cell homeostasis|N-acetylglucosamine metabolic process|protein glycosylation integral to Golgi membrane acetylglucosaminyltransferase activity ovary(1)|central_nervous_system(1)|skin(1) 3 Lung NSC(1;0.219) GACAGCTGAGCGACCAGGGTG 0.602 4 17 --- --- --- --- PASS LARGE 9215 broad.mit.edu 37 22 34046621 34046621 + Missense_Mutation SNP G A A TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr22:34046621G>A uc003and.3 - 4 719 c.140C>T c.(139-141)TCC>TTC p.S47F LARGE_uc003ane.3_Missense_Mutation_p.S47F|LARGE_uc010gwp.2_Missense_Mutation_p.S47F|LARGE_uc011ame.1_5'UTR|LARGE_uc011amf.1_Missense_Mutation_p.S47F NM_004737 NP_004728 O95461 LARGE_HUMAN like-glycosyltransferase 47 Lumenal (Potential). glycosphingolipid biosynthetic process|muscle cell homeostasis|N-acetylglucosamine metabolic process|protein glycosylation integral to Golgi membrane acetylglucosaminyltransferase activity ovary(1)|central_nervous_system(1)|skin(1) 3 Lung NSC(1;0.219) GTGTGCCTGGGACTCCAGCGG 0.647 5 19 --- --- --- --- PASS MGAT3 4248 broad.mit.edu 37 22 39884066 39884066 + Nonsense_Mutation SNP C A A rs5995740 TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr22:39884066C>A uc003axv.3 + 2 953 c.714C>A c.(712-714)TGC>TGA p.C238* MGAT3_uc010gxy.2_Nonsense_Mutation_p.C238* NM_002409 NP_002400 Q09327 MGAT3_HUMAN mannosyl (beta-1,4-)-glycoprotein 238 Lumenal (Potential). post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity 0 Melanoma(58;0.04) TTGTGGTGTGCGAGTCCAACT 0.617 6 13 --- --- --- --- PASS EFCAB6 64800 broad.mit.edu 37 22 44068001 44068001 + Missense_Mutation SNP C T T TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr22:44068001C>T uc003bdy.1 - 15 1707 c.1492G>A c.(1492-1494)GTT>ATT p.V498I EFCAB6_uc003bdz.1_Missense_Mutation_p.V346I|EFCAB6_uc010gzi.1_Missense_Mutation_p.V346I|EFCAB6_uc010gzk.1_RNA NM_022785 NP_073622 Q5THR3 EFCB6_HUMAN CAP-binding protein complex interacting protein 498 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus calcium ion binding ovary(3)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1) 7 Ovarian(80;0.0247)|all_neural(38;0.025) GTATCATGAACAATTTCTTCC 0.373 13 29 --- --- --- --- PASS SMC1B 27127 broad.mit.edu 37 22 45779397 45779397 + Nonsense_Mutation SNP C A A TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr22:45779397C>A uc003bgc.2 - 12 2060 c.2008G>T c.(2008-2010)GAG>TAG p.E670* SMC1B_uc003bgd.2_Nonsense_Mutation_p.E670*|SMC1B_uc003bge.1_Nonsense_Mutation_p.E453* NM_148674 NP_683515 Q8NDV3 SMC1B_HUMAN SMC1 structural maintenance of chromosomes 670 Potential. chromosome organization|meiosis chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus ATP binding ovary(2) 2 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.0182) TTCTTTAACTCTTTCTCATCC 0.353 5 55 --- --- --- --- PASS CELSR1 9620 broad.mit.edu 37 22 46793652 46793652 + Missense_Mutation SNP C A A rs141922879 TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr22:46793652C>A uc003bhw.1 - 12 5620 c.5620G>T c.(5620-5622)GAC>TAC p.D1874Y CELSR1_uc011arc.1_Missense_Mutation_p.D195Y NM_014246 NP_055061 Q9NYQ6 CELR1_HUMAN cadherin EGF LAG seven-pass G-type receptor 1 1874 Extracellular (Potential).|EGF-like 5; calcium-binding. central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway integral to plasma membrane calcium ion binding|G-protein coupled receptor activity|protein dimerization activity lung(4)|breast(4)|pancreas(2)|skin(1) 11 Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766) UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171) GTACAGGGGTCGTCCACATCA 0.642 5 7 --- --- --- --- PASS CERK 64781 broad.mit.edu 37 22 47095313 47095313 + Silent SNP G T T TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr22:47095313G>T uc003bia.2 - 8 947 c.840C>A c.(838-840)CTC>CTA p.L280L CERK_uc010hae.2_Silent_p.L82L NM_022766 NP_073603 Q8TCT0 CERK1_HUMAN ceramide kinase 280 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) AGTAGCGAAGGAGTGTGCTGT 0.607 5 53 --- --- --- --- PASS MAGEB4 4115 broad.mit.edu 37 X 30261064 30261064 + Missense_Mutation SNP T C C TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chrX:30261064T>C uc004dcb.2 + 1 896 c.812T>C c.(811-813)CTG>CCG p.L271P MAGEB1_uc004dcc.2_5'Flank|MAGEB1_uc004dcd.2_5'Flank NM_002367 NP_002358 O15481 MAGB4_HUMAN melanoma antigen family B, 4 271 MAGE. ovary(1) 1 TATCAATTCCTGTGGGGTCCA 0.493 24 24 --- --- --- --- PASS GK 2710 broad.mit.edu 37 X 30719001 30719001 + Missense_Mutation SNP A G G TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chrX:30719001A>G uc004dch.3 + 11 1009 c.830A>G c.(829-831)CAG>CGG p.Q277R GK_uc010ngj.2_Missense_Mutation_p.Q271R|GK_uc004dci.3_Missense_Mutation_p.Q271R|GK_uc011mjz.1_Missense_Mutation_p.Q72R|GK_uc011mka.1_Missense_Mutation_p.Q114R|GK_uc010ngk.2_Missense_Mutation_p.Q66R NM_203391 NP_976325 P32189 GLPK_HUMAN glycerol kinase isoform a 277 glycerol-3-phosphate metabolic process|triglyceride biosynthetic process cytosol|mitochondrial outer membrane ATP binding|glycerol kinase activity central_nervous_system(1) 1 ATGTGCTTCCAGATTGGACAA 0.348 10 7 --- --- --- --- PASS FTHL17 53940 broad.mit.edu 37 X 31089888 31089888 + Missense_Mutation SNP G T T TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chrX:31089888G>T uc004dcl.1 - 1 286 c.183C>A c.(181-183)GAC>GAA p.D61E NM_031894 NP_114100 Q9BXU8 FHL17_HUMAN ferritin, heavy polypeptide-like 17 61 Ferritin-like diiron. cellular iron ion homeostasis|iron ion transport ferric iron binding|oxidoreductase activity 0 CCATTTTGTCGTCCGACAGGC 0.577 9 13 --- --- --- --- PASS CYBB 1536 broad.mit.edu 37 X 37663381 37663381 + Silent SNP T G G TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chrX:37663381T>G uc004ddr.2 + 9 1210 c.1149T>G c.(1147-1149)CCT>CCG p.P383P CYBB_uc011mke.1_RNA|CYBB_uc011mkf.1_Silent_p.P351P|CYBB_uc011mkg.1_Silent_p.P116P NM_000397 NP_000388 P04839 CY24B_HUMAN cytochrome b-245 beta polypeptide 383 Cytoplasmic (Potential).|FAD-binding FR-type. electron transport chain|inflammatory response|innate immune response|respiratory burst|superoxide anion generation NADPH oxidase complex electron carrier activity|flavin adenine dinucleotide binding|heme binding|protein heterodimerization activity|superoxide-generating NADPH oxidase activity|voltage-gated ion channel activity central_nervous_system(1)|skin(1) 2 GGAAACTACCTAAGTGAGTAA 0.418 13 12 --- --- --- --- PASS USP9X 8239 broad.mit.edu 37 X 41026799 41026799 + Missense_Mutation SNP C T T TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chrX:41026799C>T uc004dfb.2 + 17 3026 c.2393C>T c.(2392-2394)ACG>ATG p.T798M USP9X_uc004dfc.2_Missense_Mutation_p.T798M NM_001039590 NP_001034679 Q93008 USP9X_HUMAN ubiquitin specific protease 9, X-linked isoform 798 BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process cytoplasm co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity lung(3)|breast(2)|ovary(1) 6 GAGATATACACGAACCTTGGT 0.373 12 9 --- --- --- --- PASS HEPH 9843 broad.mit.edu 37 X 65474970 65474970 + Missense_Mutation SNP T G G TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chrX:65474970T>G uc011moz.1 + 16 2726 c.2666T>G c.(2665-2667)GTG>GGG p.V889G HEPH_uc004dwn.2_Missense_Mutation_p.V889G|HEPH_uc004dwo.2_Missense_Mutation_p.V619G|HEPH_uc010nkr.2_Missense_Mutation_p.V697G|HEPH_uc011mpa.1_Missense_Mutation_p.V889G|HEPH_uc010nks.2_Missense_Mutation_p.V178G NM_138737 NP_620074 Q9BQS7 HEPH_HUMAN hephaestin isoform a 886 Extracellular (Potential).|Plastocyanin-like 5. cellular iron ion homeostasis|copper ion transport|transmembrane transport integral to membrane|plasma membrane copper ion binding|oxidoreductase activity lung(5)|ovary(4) 9 TATTCTGCAGTGGATCCCATC 0.478 8 3 --- --- --- --- PASS TSIX 9383 broad.mit.edu 37 X 73046973 73046973 + RNA SNP T C C TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chrX:73046973T>C uc004ebn.2 + 1 c.34934T>C XIST_uc004ebm.1_RNA NR_003255 Homo sapiens XIST antisense RNA (non-protein coding) (TSIX), non-coding RNA. 0 CTACTTGAGTTCTGGGTTTTA 0.493 33 44 --- --- --- --- PASS SH3BGRL 6451 broad.mit.edu 37 X 80532630 80532630 + Missense_Mutation SNP C A A TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chrX:80532630C>A uc004eef.2 + 2 590 c.193C>A c.(193-195)CTG>ATG p.L65M SH3BGRL_uc011mqs.1_RNA|SH3BGRL_uc010nml.2_RNA|SH3BGRL_uc010nmm.2_Missense_Mutation_p.L102M|SH3BGRL_uc010nmn.2_Missense_Mutation_p.L102M NM_003022 NP_003013 O75368 SH3L1_HUMAN SH3 domain binding glutamic acid-rich protein 65 SH3-binding (Potential). cytoplasm|nucleus SH3 domain binding|SH3/SH2 adaptor activity ovary(1) 1 all_lung(315;5.94e-05) AGGTTACCCCCTGCCACCTCA 0.378 6 7 --- --- --- --- PASS PCDH11X 27328 broad.mit.edu 37 X 91873599 91873599 + Missense_Mutation SNP C A A TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chrX:91873599C>A uc004efk.1 + 7 4549 c.3704C>A c.(3703-3705)CCA>CAA p.P1235Q PCDH11X_uc004efl.1_Missense_Mutation_p.P1225Q|PCDH11X_uc004efo.1_Missense_Mutation_p.P1198Q|PCDH11X_uc010nmv.1_3'UTR|PCDH11X_uc004efm.1_Missense_Mutation_p.P1227Q|PCDH11X_uc004efn.1_Missense_Mutation_p.P1217Q NM_032968 NP_116750 Q9BZA7 PC11X_HUMAN protocadherin 11 X-linked isoform c 1235 Cytoplasmic (Potential). homophilic cell adhesion integral to plasma membrane calcium ion binding large_intestine(2) 2 CACCACAGCCCACCATCAGCA 0.582 31 29 --- --- --- --- PASS GPRASP1 9737 broad.mit.edu 37 X 101911570 101911570 + Missense_Mutation SNP G T T TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chrX:101911570G>T uc004ejj.3 + 5 3530 c.2729G>T c.(2728-2730)TGG>TTG p.W910L GPRASP1_uc004eji.3_Missense_Mutation_p.W910L|GPRASP1_uc010nod.2_Missense_Mutation_p.W910L NM_014710 NP_055525 Q5JY77 GASP1_HUMAN G protein-coupled receptor associated sorting 910 Glu-rich.|OPRD1-binding. cytoplasm protein binding ovary(1)|lung(1) 2 TTTGGGTCCTGGTTCTGGGAT 0.483 5 57 --- --- --- --- PASS ALG13 79868 broad.mit.edu 37 X 111003210 111003210 + Missense_Mutation SNP G T T TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chrX:111003210G>T uc011msy.1 + 27 3431 c.3397G>T c.(3397-3399)GTA>TTA p.V1133L ALG13_uc011msx.1_Missense_Mutation_p.V950L|ALG13_uc011msz.1_Missense_Mutation_p.V1055L|ALG13_uc011mta.1_Missense_Mutation_p.V950L|ALG13_uc011mtb.1_Missense_Mutation_p.V950L Q9NP73 ALG13_HUMAN SubName: Full=Asparagine-linked glycosylation 13 homolog (S. cerevisiae); 1133 dolichol-linked oligosaccharide biosynthetic process|lipid glycosylation|post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane carbohydrate binding|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity lung(1) 1 TTCTCATTATGTACCTCAGGG 0.388 9 15 --- --- --- --- PASS ENOX2 10495 broad.mit.edu 37 X 129759346 129759346 + Missense_Mutation SNP C A A TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chrX:129759346C>A uc004evw.2 - 16 2193 c.1775G>T c.(1774-1776)GGA>GTA p.G592V ENOX2_uc004evx.2_Missense_Mutation_p.G563V|ENOX2_uc004evy.2_Missense_Mutation_p.G563V|ENOX2_uc004evv.2_Missense_Mutation_p.G417V NM_182314 NP_872114 Q16206 ENOX2_HUMAN ecto-NOX disulfide-thiol exchanger 2 isoform b 592 G->V: Loss of activity. cell growth|electron transport chain|regulation of growth|transport|ultradian rhythm cytosol|external side of plasma membrane|extracellular space nucleic acid binding|nucleotide binding|protein disulfide oxidoreductase activity ovary(1) 1 CAGGCTGGCTCCAACTCCAGT 0.473 12 17 --- --- --- --- PASS MAGEC2 51438 broad.mit.edu 37 X 141291581 141291581 + Missense_Mutation SNP C G G TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chrX:141291581C>G uc004fbu.1 - 3 541 c.193G>C c.(193-195)GGT>CGT p.G65R NM_016249 NP_057333 Q9UBF1 MAGC2_HUMAN melanoma antigen family C, 2 65 cytoplasm|nucleus breast(2) 2 Acute lymphoblastic leukemia(192;6.56e-05) TCCTCAGGACCACCAAGAATC 0.413 HNSCC(46;0.14) 14 32 --- --- --- --- PASS CROCCL1 84809 broad.mit.edu 37 1 16945182 16945184 + RNA DEL AAT - - rs71803374 TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr1:16945182_16945184delAAT uc010ocf.1 - 4 c.973_975delATT CROCCL1_uc009vov.1_RNA|CROCCL1_uc001aze.2_RNA|CROCCL1_uc001azf.2_RNA Homo sapiens mRNA for FLJ00313 protein. 0 TACTGATGAAAATAATAACAGAT 0.246 7 6 --- --- --- --- Unknown 0 broad.mit.edu 37 7 150144801 150144802 + RNA INS - TC TC rs142971191 by1000genomes TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr7:150144801_150144802insTC uc003whi.1 + 4 c.1616_1617insTC uc010lps.1_RNA Homo sapiens cDNA FLJ39839 fis, clone SPLEN2014136. taacaaagatgtctgcagtgaa 0.074 3 3 --- --- --- --- P4HA3 283208 broad.mit.edu 37 11 74013462 74013462 + Frame_Shift_Del DEL G - - TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr11:74013462delG uc001ouz.2 - 3 562 c.519delC c.(517-519)CCCfs p.P173fs P4HA3_uc001ouy.3_RNA|P4HA3_uc010rrj.1_Frame_Shift_Del_p.P173fs NM_182904 NP_878907 Q7Z4N8 P4HA3_HUMAN prolyl 4-hydroxylase, alpha III subunit 173 endoplasmic reticulum lumen iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity skin(1) 1 Breast(11;2.31e-05) AGAGCCGTTTGGGGCTGTACA 0.512 94 79 --- --- --- --- ZBTB16 7704 broad.mit.edu 37 11 114112921 114112921 + Frame_Shift_Del DEL G - - TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr11:114112921delG uc001pop.2 + 5 1750 c.1486delG c.(1486-1488)GGGfs p.G496fs ZBTB16_uc001poq.2_Frame_Shift_Del_p.G496fs NM_006006 NP_005997 Q05516 ZBT16_HUMAN promyelocytic leukemia zinc finger protein 496 C2H2-type 4. apoptosis|central nervous system development|mesonephros development|myeloid cell differentiation|negative regulation of myeloid cell differentiation|negative regulation of transcription, DNA-dependent nuclear speck|PML body|transcriptional repressor complex protein homodimerization activity|zinc ion binding central_nervous_system(1)|skin(1) 2 all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438) BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018) TCTGCTGTGTGGGAAGCGCTT 0.607 22 28 --- --- --- --- ADAM6 8755 broad.mit.edu 37 14 106236825 106236825 + RNA DEL C - - TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr14:106236825delC uc010tyt.1 - 3613 c.57523delG uc001yrs.2_Intron|uc001yrt.2_Intron|uc001yrw.1_Intron|uc001yrx.1_Intron|uc001yrz.1_Intron|uc001yse.2_Intron|uc001ysf.2_Intron|uc001ysh.1_RNA|uc001ysi.1_RNA Parts of antibodies, mostly variable regions. 0 TACCTGGGCACCGTGGGCACG 0.637 85 40 --- --- --- --- ADAMTS7 11173 broad.mit.edu 37 15 79056289 79056289 + Frame_Shift_Del DEL C - - TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr15:79056289delC uc002bej.3 - 21 4783 c.4572delG c.(4570-4572)TGGfs p.W1524fs NM_014272 NP_055087 Q9UKP4 ATS7_HUMAN ADAM metallopeptidase with thrombospondin type 1 1524 TSP type-1 7. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding 0 AAGATGTGTACCAGCTGAGGC 0.706 4 2 --- --- --- --- TP53 7157 broad.mit.edu 37 17 7578458 7578458 + Frame_Shift_Del DEL G - - TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr17:7578458delG uc002gim.2 - 5 666 c.472delC c.(472-474)CGCfs p.R158fs TP53_uc002gig.1_Frame_Shift_Del_p.R158fs|TP53_uc002gih.2_Frame_Shift_Del_p.R158fs|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Frame_Shift_Del_p.R26fs|TP53_uc010cng.1_Frame_Shift_Del_p.R26fs|TP53_uc002gii.1_Frame_Shift_Del_p.R26fs|TP53_uc010cnh.1_Frame_Shift_Del_p.R158fs|TP53_uc010cni.1_Frame_Shift_Del_p.R158fs|TP53_uc002gij.2_Frame_Shift_Del_p.R158fs|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Frame_Shift_Del_p.R65fs|TP53_uc002gio.2_Frame_Shift_Del_p.R26fs|TP53_uc010vug.1_Frame_Shift_Del_p.R119fs NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 158 Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). R -> F (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> C (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions). 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.R158H(58)|p.R158L(53)|p.R158C(17)|p.R158G(10)|p.R158P(9)|p.0?(7)|p.R158R(6)|p.R158fs*12(5)|p.R158_A159insX(4)|p.R158_A159delRA(2)|p.R156_I162delRVRAMAI(2)|p.V157fs*9(2)|p.P153fs*22(2)|p.R158fs*11(2)|p.V157fs*22(2)|p.V157_C176del20(1)|p.R156_A161delRVRAMA(1)|p.V157_R158delVR(1)|p.P151_V173del23(1)|p.R158fs*24(1)|p.R156_R158delRVR(1)|p.R156fs*18(1)|p.R156_A161del(1)|p.R158_A159insXX(1)|p.V157_M160delVRAM(1)|p.R156fs*12(1)|p.R158F(1)|p.S149fs*72(1)|p.A159fs*21(1)|p.T155_A161delTRVRAMA(1)|p.G154fs*22(1)|p.R156fs*20(1)|p.V157_I162delVRAMAI(1)|p.V157fs*21(1)|p.R158fs*8(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) GCCATGGCGCGGACGCGGGTG 0.622 111 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) 13 15 --- --- --- --- NTN5 126147 broad.mit.edu 37 19 49174065 49174066 + Frame_Shift_Ins INS - T T TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c59e5971-e243-4b00-b5f0-f4bca18530d6 1cbdc2f1-d507-4fbd-a130-73b55c54e436 g.chr19:49174065_49174066insT uc002pkb.2 - 2 274_275 c.178_179insA c.(178-180)ACCfs p.T60fs SEC1_uc010xzv.1_Intron|SEC1_uc002pka.2_Intron|SEC1_uc010xzw.1_Intron|SEC1_uc010ema.2_Intron|NTN5_uc002pkc.2_Frame_Shift_Ins_p.T60fs NM_145807 NP_665806 Q8WTR8 NET5_HUMAN netrin 5 precursor 60 extracellular region large_intestine(1)|pancreas(1) 2 GCCATTGCAGGTTTCCCTGGCG 0.649 21 13 --- --- --- ---