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 PER3 8863 broad.mit.edu 37 1 7845624 7845624 + Silent SNP C G G TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr1:7845624C>G uc001aoo.2 + 2 427 c.252C>G c.(250-252)CTC>CTG p.L84L PER3_uc009vmg.1_Silent_p.L84L|PER3_uc009vmh.1_Silent_p.L84L|PER3_uc001aop.2_Silent_p.L84L|PER3_uc010nzw.1_5'UTR|PER3_uc001aon.2_Silent_p.L84L NM_016831 NP_058515 P56645 PER3_HUMAN period 3 84 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus signal transducer activity ovary(1)|pancreas(1)|skin(1) 3 Ovarian(185;0.0634)|all_lung(157;0.178) all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649) ACTATGCTCTCCGCTGTGTCC 0.473 13 60 --- --- --- --- PASS CLSTN1 22883 broad.mit.edu 37 1 9811556 9811556 + Silent SNP G A A rs140241620 TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr1:9811556G>A uc001aqh.2 - 5 1383 c.624C>T c.(622-624)GAC>GAT p.D208D CLSTN1_uc001aqi.2_Silent_p.D198D|CLSTN1_uc010oag.1_Silent_p.D208D NM_001009566 NP_001009566 O94985 CSTN1_HUMAN calsyntenin 1 isoform 1 208 Cadherin 2.|Extracellular (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) TAAAGGGCACGTCTGGAGTGA 0.532 16 116 --- --- --- --- PASS MTHFR 4524 broad.mit.edu 37 1 11863045 11863045 + Missense_Mutation SNP C G G TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr1:11863045C>G uc001atc.1 - 2 313 c.129G>C c.(127-129)GAG>GAC p.E43D MTHFR_uc001atb.1_Missense_Mutation_p.E66D|MTHFR_uc001atd.1_RNA|MTHFR_uc009vnd.1_RNA NM_005957 NP_005948 P42898 MTHR_HUMAN 5,10-methylenetetrahydrofolate reductase 43 blood circulation|folic acid metabolic process cytosol methylenetetrahydrofolate reductase (NADPH) activity|protein binding 0 Ovarian(185;0.249) Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649) Benazepril(DB00542)|Cyanocobalamin(DB00115)|Folic Acid(DB00158)|L-Methionine(DB00134)|Menadione(DB00170)|Methotrexate(DB00563)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|Raltitrexed(DB00293)|Riboflavin(DB00140)|S-Adenosylmethionine(DB00118)|Tetrahydrofolic acid(DB00116) CCCGGAGTCTCTCATGCCGCT 0.587 13 52 --- --- --- --- PASS AADACL3 126767 broad.mit.edu 37 1 12785627 12785627 + Silent SNP G A A TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr1:12785627G>A uc009vnn.1 + 4 950 c.717G>A c.(715-717)GAG>GAA p.E239E AADACL3_uc001aug.1_Silent_p.E169E NM_001103170 NP_001096640 Q5VUY0 ADCL3_HUMAN arylacetamide deacetylase-like 3 isoform 1 239 hydrolase activity 0 Ovarian(185;0.249) Lung NSC(185;8.27e-05)|all_lung(284;9.47e-05)|Renal(390;0.000147)|Colorectal(325;0.000583)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649) GGTTTAAGGAGAGGGGTTACC 0.502 41 165 --- --- --- --- PASS RNF186 54546 broad.mit.edu 37 1 20141334 20141334 + Missense_Mutation SNP C G G TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr1:20141334C>G uc001bcr.2 - 1 438 c.261G>C c.(259-261)AAG>AAC p.K87N NM_019062 NP_061935 Q9NXI6 RN186_HUMAN ring finger protein 186 87 integral to membrane zinc ion binding 0 Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00459)|Lung NSC(340;0.00475)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|COAD - Colon adenocarcinoma(152;1.07e-05)|BRCA - Breast invasive adenocarcinoma(304;7.77e-05)|Kidney(64;0.000162)|GBM - Glioblastoma multiforme(114;0.00036)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) CGGCGGTGACCTTGCGGCACA 0.672 18 82 --- --- --- --- PASS EPHB2 2048 broad.mit.edu 37 1 23111401 23111401 + Missense_Mutation SNP G A A TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr1:23111401G>A uc009vqj.1 + 3 788 c.643G>A c.(643-645)GAG>AAG p.E215K EPHB2_uc001bge.2_Missense_Mutation_p.E215K|EPHB2_uc001bgf.2_Missense_Mutation_p.E215K|EPHB2_uc010odu.1_Missense_Mutation_p.E215K NM_017449 NP_059145 P29323 EPHB2_HUMAN ephrin receptor EphB2 isoform 1 precursor 215 Extracellular (Potential).|Cys-rich. 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) GTCGGGGGCTGAGAGCACATC 0.627 Hereditary_Prostate_Cancer 21 56 --- --- --- --- PASS MED18 54797 broad.mit.edu 37 1 28661072 28661072 + Missense_Mutation SNP G T T TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr1:28661072G>T uc001bpt.3 + 3 463 c.218G>T c.(217-219)CGA>CTA p.R73L MED18_uc009vtg.2_Missense_Mutation_p.R73L NM_017638 NP_060108 Q9BUE0 MED18_HUMAN mediator complex subunit 18 73 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent mediator complex identical protein binding 0 Colorectal(325;0.000147)|Lung NSC(340;0.000818)|all_lung(284;0.000996)|Renal(390;0.00357)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|all_neural(195;0.0557)|Ovarian(437;0.113) OV - Ovarian serous cystadenocarcinoma(117;2.36e-22)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0141)|READ - Rectum adenocarcinoma(331;0.0649) CTCAGGGCCCGACGCTCTATG 0.572 97 329 --- --- --- --- PASS TINAGL1 64129 broad.mit.edu 37 1 32050834 32050834 + Nonsense_Mutation SNP C T T TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr1:32050834C>T uc001bta.2 + 8 1066 c.940C>T c.(940-942)CGA>TGA p.R314* TINAGL1_uc001bsz.2_Nonsense_Mutation_p.R169*|TINAGL1_uc010ogj.1_Nonsense_Mutation_p.R283*|TINAGL1_uc010ogk.1_Nonsense_Mutation_p.R314* NM_022164 NP_071447 Q9GZM7 TINAL_HUMAN tubulointerstitial nephritis antigen-like 1 314 endosome transport|immune response|proteolysis extracellular region cysteine-type endopeptidase activity|extracellular matrix structural constituent|polysaccharide binding|scavenger receptor activity 0 Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104) STAD - Stomach adenocarcinoma(196;0.0526)|READ - Rectum adenocarcinoma(331;0.145) GATGCACAGCCGAGCCATGGG 0.617 60 78 --- --- --- --- PASS ZC3H12A 80149 broad.mit.edu 37 1 37948776 37948776 + Missense_Mutation SNP G A A TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr1:37948776G>A uc001cbb.3 + 6 1514 c.1364G>A c.(1363-1365)GGA>GAA p.G455E ZC3H12A_uc001cbc.1_Missense_Mutation_p.G250E NM_025079 NP_079355 Q5D1E8 ZC12A_HUMAN zinc finger CCCH-type containing 12A 455 angiogenesis|apoptosis|cell differentiation cytoplasm|nucleus|plasma membrane endonuclease activity|metal ion binding ovary(2) 2 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) GGGGTTCGAGGAGGAGGCCCT 0.647 26 43 --- --- --- --- PASS RLF 6018 broad.mit.edu 37 1 40661370 40661370 + Missense_Mutation SNP G A A TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr1:40661370G>A uc001cfc.3 + 4 572 c.541G>A c.(541-543)GAA>AAA p.E181K NM_012421 NP_036553 Q13129 RLF_HUMAN rearranged L-myc fusion 181 chromosome organization|DNA integration|DNA mediated transformation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent DNA binding|protein binding|zinc ion binding ovary(2)|pancreas(1) 3 Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461) TGTTACCAAGGAAGGGGTGTG 0.378 46 59 --- --- --- --- PASS PPCS 79717 broad.mit.edu 37 1 42925442 42925442 + Missense_Mutation SNP G C C TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr1:42925442G>C uc001chl.2 + 3 845 c.781G>C c.(781-783)GAG>CAG p.E261Q PPCS_uc001chk.2_Missense_Mutation_p.E88Q NM_024664 NP_078940 Q9HAB8 PPCS_HUMAN phosphopantothenoylcysteine synthetase isoform 261 coenzyme biosynthetic process|pantothenate metabolic process cytosol phosphopantothenate--cysteine ligase activity 0 Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0333) TAATATCCTTGAGTCACGACA 0.403 88 165 --- --- --- --- PASS DMBX1 127343 broad.mit.edu 37 1 46972718 46972718 + Missense_Mutation SNP C A A TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr1:46972718C>A uc001cpx.2 + 1 51 c.36C>A c.(34-36)CAC>CAA p.H12Q DMBX1_uc001cpw.2_Missense_Mutation_p.H12Q NM_147192 NP_671725 Q8NFW5 DMBX1_HUMAN diencephalon/mesencephalon homeobox 1 isoform b 12 Interacts with OXT2 and is required for repressor activity (By similarity). brain development|developmental growth|negative regulation of transcription, DNA-dependent nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 Acute lymphoblastic leukemia(166;0.155) ACTCACTGCACGCCATGAACT 0.622 18 103 --- --- --- --- PASS ZYG11B 79699 broad.mit.edu 37 1 53279333 53279333 + Silent SNP C T T TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr1:53279333C>T uc001cuj.2 + 11 2016 c.1821C>T c.(1819-1821)GCC>GCT p.A607A ZYG11B_uc009vzg.2_RNA|ZYG11B_uc010onj.1_Silent_p.A528A|ZYG11B_uc009vzh.2_Silent_p.A29A NM_024646 NP_078922 Q9C0D3 ZY11B_HUMAN zyg-11 homolog B 607 protein binding upper_aerodigestive_tract(2)|ovary(1)|pancreas(1) 4 GAATTATTGCCCATTTAATAT 0.408 27 165 --- --- --- --- PASS TMEM48 55706 broad.mit.edu 37 1 54262595 54262595 + Missense_Mutation SNP G A A TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr1:54262595G>A uc001cvs.2 - 12 1686 c.1445C>T c.(1444-1446)CCA>CTA p.P482L TMEM48_uc010onu.1_Missense_Mutation_p.P442L|TMEM48_uc001cvt.2_Missense_Mutation_p.P359L|TMEM48_uc009vzk.2_RNA|TMEM48_uc010onv.1_Missense_Mutation_p.P147L NM_018087 NP_060557 Q9BTX1 NDC1_HUMAN transmembrane protein 48 482 Cytoplasmic (Potential). mRNA transport|nuclear pore complex assembly|nuclear pore distribution|protein transport|transmembrane transport nuclear membrane|nuclear pore protein binding|structural constituent of nuclear pore ovary(1)|pancreas(1) 2 CCACAATCTTGGCCCCCTTCT 0.408 83 96 --- --- --- --- PASS LEPR 3953 broad.mit.edu 37 1 66064402 66064402 + Silent SNP G T T TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr1:66064402G>T uc001dci.2 + 8 1111 c.909G>T c.(907-909)TCG>TCT p.S303S LEPR_uc001dcg.2_Silent_p.S303S|LEPR_uc001dch.2_Silent_p.S303S|LEPR_uc009waq.2_Intron|LEPR_uc001dcj.2_Silent_p.S303S|LEPR_uc001dck.2_Silent_p.S303S NM_002303 NP_002294 P48357 LEPR_HUMAN leptin receptor isoform 1 303 Extracellular (Potential).|Fibronectin type-III 1. energy reserve metabolic process|multicellular organismal development extracellular region|integral to membrane|plasma membrane cytokine receptor activity p.S303L(1) skin(1) 1 OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094) CTGGGTCTTCGTATGAGGTTC 0.418 57 64 --- --- --- --- PASS LEPR 3953 broad.mit.edu 37 1 66102258 66102258 + Missense_Mutation SNP T A A TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr1:66102258T>A uc001dci.2 + 20 3260 c.3058T>A c.(3058-3060)TTG>ATG p.L1020M LEPR_uc009waq.2_3'UTR NM_002303 NP_002294 P48357 LEPR_HUMAN leptin receptor isoform 1 1020 Cytoplasmic (Potential). energy reserve metabolic process|multicellular organismal development extracellular region|integral to membrane|plasma membrane cytokine receptor activity skin(1) 1 OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094) AAATTCTCCGTTGAAGGATTC 0.413 46 171 --- --- --- --- PASS IL23R 149233 broad.mit.edu 37 1 67724363 67724363 + Missense_Mutation SNP A C C TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr1:67724363A>C uc001ddo.2 + 11 1527 c.1442A>C c.(1441-1443)AAC>ACC p.N481T IL23R_uc009waz.2_Missense_Mutation_p.N278T|IL23R_uc010opi.1_RNA|IL23R_uc010opj.1_Missense_Mutation_p.N79T|IL23R_uc010opk.1_3'UTR|IL23R_uc010opl.1_Missense_Mutation_p.N63T|IL23R_uc010opm.1_RNA|IL23R_uc001ddq.2_Missense_Mutation_p.N227T|IL23R_uc010opn.1_Missense_Mutation_p.N326T|IL23R_uc001ddr.2_RNA|IL23R_uc010ops.1_Missense_Mutation_p.N278T|IL23R_uc010opt.1_Missense_Mutation_p.N122T|IL23R_uc010opu.1_Missense_Mutation_p.N177T|IL23R_uc010opv.1_Missense_Mutation_p.N239T|IL23R_uc010opw.1_Missense_Mutation_p.N116T|IL23R_uc010opx.1_Missense_Mutation_p.N122T|IL23R_uc010opy.1_Missense_Mutation_p.N248T|IL23R_uc010opz.1_Missense_Mutation_p.N122T|IL23R_uc010oqa.1_Missense_Mutation_p.N122T|IL23R_uc010oqb.1_Missense_Mutation_p.N310T|IL23R_uc010oqc.1_Missense_Mutation_p.N197T|IL23R_uc010oqd.1_Missense_Mutation_p.N116T|IL23R_uc010oqe.1_Missense_Mutation_p.N79T|IL23R_uc010oqf.1_Missense_Mutation_p.N79T|IL23R_uc010oqg.1_Missense_Mutation_p.N79T|IL23R_uc010oqh.1_Missense_Mutation_p.N122T|IL23R_uc001dds.2_Missense_Mutation_p.N226T|IL23R_uc001ddt.2_Missense_Mutation_p.N79T NM_144701 NP_653302 Q5VWK5 IL23R_HUMAN interleukin 23 receptor precursor 481 Cytoplasmic (Potential). N -> D (in Ref. 2; AAY18347). inflammatory response|negative regulation of interleukin-10 production|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of interleukin-12 production|positive regulation of memory T cell differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|response to interferon-gamma|response to lipopolysaccharide interleukin-23 receptor complex receptor activity 0 CCTGATCTCAACACTGGATAT 0.393 61 81 --- --- --- --- PASS C1orf173 127254 broad.mit.edu 37 1 75036970 75036970 + Missense_Mutation SNP C T T TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr1:75036970C>T uc001dgg.2 - 14 4643 c.4424G>A c.(4423-4425)CGA>CAA p.R1475Q NM_001002912 NP_001002912 Q5RHP9 CA173_HUMAN hypothetical protein LOC127254 1475 Glu-rich. ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1) 5 TAATCCTAATCGGAATTTTTC 0.562 90 162 --- --- --- --- PASS C1orf173 127254 broad.mit.edu 37 1 75102088 75102088 + Missense_Mutation SNP A G G TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr1:75102088A>G uc001dgg.2 - 6 698 c.479T>C c.(478-480)ATG>ACG p.M160T C1orf173_uc001dgi.3_5'Flank NM_001002912 NP_001002912 Q5RHP9 CA173_HUMAN hypothetical protein LOC127254 160 ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1) 5 TGGAGGCTGCATATTTCCTGG 0.403 62 289 --- --- --- --- PASS CCDC18 343099 broad.mit.edu 37 1 93712473 93712473 + Missense_Mutation SNP G A A TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr1:93712473G>A uc001dpq.2 + 23 3682 c.3514G>A c.(3514-3516)GAG>AAG p.E1172K CCDC18_uc009wdl.1_Missense_Mutation_p.E689K NM_206886 NP_996769 Q5T9S5 CCD18_HUMAN sarcoma antigen NY-SAR-41 1053 Potential. ovary(2)|breast(2)|pancreas(1) 5 all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203) all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967) AGGTACTCTGGAGAAATCAGA 0.239 33 58 --- --- --- --- PASS ABCA4 24 broad.mit.edu 37 1 94466451 94466451 + Silent SNP C A A TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr1:94466451C>A uc001dqh.2 - 47 6524 c.6420G>T c.(6418-6420)CTG>CTT p.L2140L NM_000350 NP_000341 P78363 ABCA4_HUMAN ATP-binding cassette, sub-family A member 4 2140 ABC transporter 2.|Cytoplasmic. phototransduction, visible light|visual perception integral to plasma membrane|membrane fraction ATP binding|ATPase activity, coupled to transmembrane movement of substances ovary(4)|skin(4)|central_nervous_system(2)|upper_aerodigestive_tract(1)|breast(1) 12 all_lung(203;0.000757)|Lung NSC(277;0.00335) all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171) CCATGATGGCCAGCCGGGTAC 0.582 26 112 --- --- --- --- PASS COL11A1 1301 broad.mit.edu 37 1 103356059 103356059 + Missense_Mutation SNP C A A TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr1:103356059C>A uc001dul.2 - 58 4622 c.4304G>T c.(4303-4305)GGA>GTA p.G1435V COL11A1_uc001duk.2_Missense_Mutation_p.G631V|COL11A1_uc001dum.2_Missense_Mutation_p.G1447V|COL11A1_uc001dun.2_Missense_Mutation_p.G1396V|COL11A1_uc009weh.2_Missense_Mutation_p.G1319V NM_001854 NP_001845 P12107 COBA1_HUMAN alpha 1 type XI collagen isoform A 1435 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) GCCAGGAGGTCCCTAAATAAT 0.333 11 13 --- --- --- --- PASS AMY2B 280 broad.mit.edu 37 1 104122003 104122003 + Missense_Mutation SNP A G G TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr1:104122003A>G uc001duq.2 + 12 2033 c.1417A>G c.(1417-1419)ATT>GTT p.I473V AMY2B_uc010ouo.1_RNA|LOC648740_uc001dur.2_Missense_Mutation_p.I473V|AMY2B_uc001dus.1_Intron NM_020978 NP_066188 P19961 AMY2B_HUMAN amylase, pancreatic, alpha-2B precursor 473 carbohydrate metabolic process|digestion extracellular region alpha-amylase activity|metal ion binding 0 all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451) Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112) TGGAGATAAAATTAATGGCAA 0.343 119 495 --- --- --- --- PASS SPAG17 200162 broad.mit.edu 37 1 118550726 118550726 + Missense_Mutation SNP A T T TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr1:118550726A>T uc001ehk.2 - 31 4596 c.4528T>A c.(4528-4530)TGC>AGC p.C1510S NM_206996 NP_996879 Q6Q759 SPG17_HUMAN sperm associated antigen 17 1510 cilium|flagellar axoneme|microtubule upper_aerodigestive_tract(2)|ovary(2)|large_intestine(1)|skin(1) 6 Esophageal squamous(2;0.0106) all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01) Lung(183;0.0858) GTGGCACAGCAGCTACTGTCC 0.512 16 97 --- --- --- --- PASS RBM8A 9939 broad.mit.edu 37 1 145508257 145508257 + Missense_Mutation SNP G C C TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr1:145508257G>C uc001ent.1 + 3 207 c.178G>C c.(178-180)GAT>CAT p.D60H NBPF10_uc001emp.3_Intron|RBM8A_uc001enu.1_Missense_Mutation_p.D59H|RBM8A_uc001enw.1_5'Flank NM_005105 NP_005096 Q9Y5S9 RBM8A_HUMAN RNA binding motif protein 8A 60 mRNA 3'-end processing|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|termination of RNA polymerase II transcription catalytic step 2 spliceosome|cytosol|exon-exon junction complex|nuclear speck mRNA binding|nucleotide binding|protein binding 0 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) CGTGGAGCAGGATGGCGATGA 0.493 76 52 --- --- --- --- PASS FLG2 388698 broad.mit.edu 37 1 152327971 152327971 + Missense_Mutation SNP C T T TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr1:152327971C>T uc001ezw.3 - 3 2364 c.2291G>A c.(2290-2292)AGA>AAA p.R764K uc001ezv.2_Intron NM_001014342 NP_001014364 Q5D862 FILA2_HUMAN filaggrin family member 2 764 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) CTGACCTGATCTAGACTCATG 0.507 423 349 --- --- --- --- PASS OR6Y1 391112 broad.mit.edu 37 1 158517648 158517648 + Missense_Mutation SNP C T T TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr1:158517648C>T uc010pil.1 - 1 248 c.248G>A c.(247-249)AGC>AAC p.S83N NM_001005189 NP_001005189 Q8NGX8 OR6Y1_HUMAN olfactory receptor, family 6, subfamily Y, 83 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 all_hematologic(112;0.0378) CATCTTGGGGCTGATGACTGT 0.458 118 68 --- --- --- --- PASS IGSF8 93185 broad.mit.edu 37 1 160064721 160064721 + Missense_Mutation SNP C A A TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr1:160064721C>A uc001fva.2 - 2 425 c.380G>T c.(379-381)TGC>TTC p.C127F IGSF8_uc001fuz.2_Missense_Mutation_p.C127F|IGSF8_uc009wtf.2_Missense_Mutation_p.C127F NM_052868 NP_443100 Q969P0 IGSF8_HUMAN immunoglobulin superfamily, member 8 127 Ig-like C2-type 1.|Extracellular (Potential). cell proliferation|cellular component movement|nervous system development|single fertilization|skeletal muscle tissue development integral to membrane protein binding 0 all_cancers(52;1.11e-16)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246) GGGGGTGTGGCACTCATAAAT 0.652 56 37 --- --- --- --- PASS ATP1A2 477 broad.mit.edu 37 1 160093179 160093179 + Silent SNP C T T TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr1:160093179C>T uc001fvc.2 + 4 486 c.354C>T c.(352-354)GCC>GCT p.A118A ATP1A2_uc001fvb.2_Silent_p.A118A|ATP1A2_uc010piz.1_5'Flank NM_000702 NP_000693 P50993 AT1A2_HUMAN Na+/K+ -ATPase alpha 2 subunit proprotein 118 Extracellular (Potential). ATP biosynthetic process ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity central_nervous_system(3)|ovary(2)|skin(2) 7 all_cancers(52;1.11e-16)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246) TCCAGGCTGCCATGGAGGATG 0.612 196 96 --- --- --- --- PASS SLC19A2 10560 broad.mit.edu 37 1 169437891 169437891 + Missense_Mutation SNP G T T TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr1:169437891G>T uc001gge.3 - 4 1418 c.1214C>A c.(1213-1215)ACG>AAG p.T405K SLC19A2_uc001ggf.3_Missense_Mutation_p.T204K NM_006996 NP_008927 O60779 S19A2_HUMAN solute carrier family 19, member 2 405 Helical; (Potential). thiamine-containing compound metabolic process integral to membrane|plasma membrane folic acid binding|folic acid transporter activity|reduced folate carrier activity|thiamine uptake transmembrane transporter activity 0 all_hematologic(923;0.208) CGTTGCTATCGTGATGAGTAA 0.363 81 45 --- --- --- --- PASS EDEM3 80267 broad.mit.edu 37 1 184690515 184690515 + Missense_Mutation SNP C T T TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr1:184690515C>T uc010pok.1 - 9 1120 c.859G>A c.(859-861)GGA>AGA p.G287R EDEM3_uc010pol.1_RNA|EDEM3_uc010pom.1_Missense_Mutation_p.G287R|EDEM3_uc001gqy.2_Missense_Mutation_p.G210R NM_025191 NP_079467 Q9BZQ6 EDEM3_HUMAN ER degradation enhancer, mannosidase alpha-like 287 post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein endoplasmic reticulum lumen|endoplasmic reticulum membrane calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding skin(1) 1 GCTCCAACTCCACTATCTATG 0.279 48 47 --- --- --- --- PASS ASPM 259266 broad.mit.edu 37 1 197070287 197070287 + Missense_Mutation SNP G C C TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr1:197070287G>C uc001gtu.2 - 18 8351 c.8094C>G c.(8092-8094)TTC>TTG p.F2698L ASPM_uc001gtv.2_Intron|ASPM_uc001gtw.3_Missense_Mutation_p.F546L NM_018136 NP_060606 Q8IZT6 ASPM_HUMAN asp (abnormal spindle)-like, microcephaly 2698 IQ 30. mitosis cytoplasm|nucleus calmodulin binding ovary(4)|central_nervous_system(2) 6 GCATTCGATAGAATGACTGAA 0.348 81 38 --- --- --- --- PASS CDK18 5129 broad.mit.edu 37 1 205496951 205496951 + Silent SNP C T T rs139419406 byFrequency TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr1:205496951C>T uc001hcr.2 + 9 1068 c.849C>T c.(847-849)CTC>CTT p.L283L CDK18_uc001hcp.2_Silent_p.L253L|CDK18_uc001hcq.2_Silent_p.L253L|CDK18_uc010prj.1_Silent_p.L164L|CDK18_uc001hcs.2_Silent_p.L164L|CDK18_uc009xbm.1_Silent_p.L178L|CDK18_uc001hct.2_5'Flank NM_212503 NP_997668 Q07002 CDK18_HUMAN PCTAIRE protein kinase 3 isoform a 251 Protein kinase. ATP binding|cyclin-dependent protein kinase activity|protein binding|signal transducer activity stomach(2) 2 TCCGGGGCCTCGCCTACTGTC 0.622 16 153 --- --- --- --- PASS CTSE 1510 broad.mit.edu 37 1 206331026 206331026 + Silent SNP C T T TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr1:206331026C>T uc001hdu.2 + 9 1150 c.1032C>T c.(1030-1032)TTC>TTT p.F344F CTSE_uc001hdv.2_Missense_Mutation_p.S297L|CTSE_uc010prs.1_Missense_Mutation_p.S222L NM_001910 NP_001901 P14091 CATE_HUMAN cathepsin E isoform a preproprotein 349 antigen processing and presentation of exogenous peptide antigen via MHC class II|digestion|proteolysis endosome aspartic-type endopeptidase activity ovary(1) 1 BRCA - Breast invasive adenocarcinoma(75;0.0754) CACAGGACTTCGTGGATGGAA 0.557 307 160 --- --- --- --- PASS USH2A 7399 broad.mit.edu 37 1 216498934 216498934 + Missense_Mutation SNP G C C TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr1:216498934G>C uc001hku.1 - 6 1243 c.856C>G c.(856-858)CTG>GTG p.L286V USH2A_uc001hkv.2_Missense_Mutation_p.L286V NM_206933 NP_996816 O75445 USH2A_HUMAN usherin isoform B 286 Laminin N-terminal.|Extracellular (Potential). 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) AAGACTTCCAGAATCTCTCTG 0.498 HNSCC(13;0.011) 37 33 --- --- --- --- PASS HHIPL2 79802 broad.mit.edu 37 1 222717104 222717104 + Missense_Mutation SNP C T T rs147794680 TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr1:222717104C>T uc001hnh.1 - 2 807 c.749G>A c.(748-750)CGC>CAC p.R250H NM_024746 NP_079022 Q6UWX4 HIPL2_HUMAN HHIP-like 2 precursor 250 carbohydrate metabolic process extracellular region oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding ovary(1) 1 GBM - Glioblastoma multiforme(131;0.0185) TTGCTCCAGGCGACTCCCATC 0.582 16 116 --- --- --- --- PASS OBSCN 84033 broad.mit.edu 37 1 228468283 228468283 + Silent SNP C T T TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr1:228468283C>T uc009xez.1 + 30 8027 c.7983C>T c.(7981-7983)CGC>CGT p.R2661R OBSCN_uc001hsn.2_Silent_p.R2661R|OBSCN_uc001hsp.1_Silent_p.R360R|OBSCN_uc001hsq.1_5'UTR NM_001098623 NP_001092093 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and 2661 Ig-like 26. 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) CAGAGGAGCGCGGCACCCTGG 0.642 15 69 --- --- --- --- PASS RYR2 6262 broad.mit.edu 37 1 237787170 237787170 + Nonsense_Mutation SNP G T T TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr1:237787170G>T uc001hyl.1 + 39 6142 c.6022G>T c.(6022-6024)GGA>TGA p.G2008* NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 2008 Cytoplasmic (By similarity).|4 X approximate repeats. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1) 33 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) GACACATTGTGGTAAGGTCTT 0.308 74 41 --- --- --- --- PASS OR2M4 26245 broad.mit.edu 37 1 248403015 248403015 + Missense_Mutation SNP C T T rs41303133 byFrequency TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr1:248403015C>T uc010pzh.1 + 1 785 c.785C>T c.(784-786)CCA>CTA p.P262L NM_017504 NP_059974 Q96R27 OR2M4_HUMAN olfactory receptor, family 2, subfamily M, 262 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2) 2 all_cancers(71;0.000124)|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;0.0245) TACATGAGACCAGCTTCTAAA 0.522 87 48 --- --- --- --- PASS OR2G6 391211 broad.mit.edu 37 1 248685215 248685215 + Missense_Mutation SNP A G G TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr1:248685215A>G uc001ien.1 + 1 268 c.268A>G c.(268-270)AAA>GAA p.K90E NM_001013355 NP_001013373 Q5TZ20 OR2G6_HUMAN olfactory receptor, family 2, subfamily G, 90 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(1) 3 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) all_cancers(173;0.0156) OV - Ovarian serous cystadenocarcinoma(106;0.0265) TAAGAAAGACAAAACCATGAG 0.517 15 171 --- --- --- --- PASS TPO 7173 broad.mit.edu 37 2 1488494 1488494 + Missense_Mutation SNP G A A TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr2:1488494G>A uc002qww.2 + 9 1556 c.1465G>A c.(1465-1467)GCC>ACC p.A489T TPO_uc010ewj.2_RNA|TPO_uc002qwu.2_Missense_Mutation_p.A489T|TPO_uc002qwr.2_Missense_Mutation_p.A489T|TPO_uc002qwx.2_Missense_Mutation_p.A489T|TPO_uc010yio.1_Missense_Mutation_p.A316T|TPO_uc010yip.1_Missense_Mutation_p.A489T|TPO_uc002qwy.1_5'UTR|TPO_uc002qwz.2_RNA NM_000547 NP_000538 P07202 PERT_HUMAN thyroid peroxidase isoform a 489 Extracellular (Potential). cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process cell surface|cytoplasm|integral to plasma membrane calcium ion binding|heme binding|iodide peroxidase activity ovary(7)|pancreas(6)|skin(5)|lung(1)|kidney(1) 20 all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627) all_cancers(51;0.0338) all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12) Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550) CTCCACAGCCGCCTTCCGCTT 0.662 11 75 --- --- --- --- PASS GREB1 9687 broad.mit.edu 37 2 11758655 11758655 + Silent SNP G A A TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr2:11758655G>A uc002rbk.1 + 22 3954 c.3654G>A c.(3652-3654)TCG>TCA p.S1218S GREB1_uc002rbp.1_Silent_p.S216S NM_014668 NP_055483 Q4ZG55 GREB1_HUMAN growth regulation by estrogen in breast cancer 1 1218 Ser-rich. integral to membrane ovary(1) 1 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186) TCACCTCGTCGTGCTCCCAGC 0.701 6 18 --- --- --- --- PASS WDR35 57539 broad.mit.edu 37 2 20132098 20132098 + Missense_Mutation SNP T C C TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr2:20132098T>C uc002rdi.2 - 24 2910 c.2802A>G c.(2800-2802)ATA>ATG p.I934M WDR35_uc002rdj.2_Missense_Mutation_p.I923M|WDR35_uc010ext.2_Intron|WDR35_uc002rdh.2_Intron NM_001006657 NP_001006658 Q9P2L0 WDR35_HUMAN WD repeat domain 35 isoform 1 934 ovary(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GATAGAGTTCTATGGCATCAA 0.328 22 120 --- --- --- --- PASS CAD 790 broad.mit.edu 37 2 27447965 27447965 + Missense_Mutation SNP G T T TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr2:27447965G>T uc002rji.2 + 11 1636 c.1474G>T c.(1474-1476)GGG>TGG p.G492W CAD_uc010eyw.2_Missense_Mutation_p.G492W NM_004341 NP_004332 P27708 PYR1_HUMAN carbamoylphosphate synthetase 2/aspartate 492 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) GACCAAGGCCGGGGTGCTGGC 0.592 3 82 --- --- --- --- PASS GCKR 2646 broad.mit.edu 37 2 27741665 27741665 + Missense_Mutation SNP G T T rs141361209 by1000genomes TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr2:27741665G>T uc002rky.2 + 17 1499 c.1433G>T c.(1432-1434)CGT>CTT p.R478L GCKR_uc010ezd.2_Missense_Mutation_p.R476L|GCKR_uc010ylu.1_Missense_Mutation_p.R288L NM_001486 NP_001477 Q14397 GCKR_HUMAN glucokinase regulatory protein 478 SIS 2. carbohydrate metabolic process|glucose transport|negative regulation of glucokinase activity|positive regulation of gene expression|protein import into nucleus, translocation|regulation of glucose transport|response to fructose stimulus|transmembrane transport|triglyceride homeostasis|urate metabolic process cytosol|nucleoplasm fructose-6-phosphate binding|protein binding ovary(2) 2 Acute lymphoblastic leukemia(172;0.155) AAGTTCCAGCGTGAGCTAAGC 0.473 41 184 --- --- --- --- PASS BIRC6 57448 broad.mit.edu 37 2 32820187 32820187 + Missense_Mutation SNP G T T TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr2:32820187G>T uc010ezu.2 + 68 13722 c.13588G>T c.(13588-13590)GCT>TCT p.A4530S NM_016252 NP_057336 Q9NR09 BIRC6_HUMAN baculoviral IAP repeat-containing 6 4530 anti-apoptosis|apoptosis intracellular acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1) 14 Acute lymphoblastic leukemia(172;0.155) AAAATATGTGGCTGTTATGAA 0.303 11 21 --- --- --- --- PASS THADA 63892 broad.mit.edu 37 2 43768330 43768330 + Missense_Mutation SNP C G G TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr2:43768330C>G uc002rsw.3 - 21 3584 c.3232G>C c.(3232-3234)GAA>CAA p.E1078Q THADA_uc010far.2_Missense_Mutation_p.E347Q|THADA_uc002rsx.3_Missense_Mutation_p.E1078Q|THADA_uc002rsy.3_RNA|THADA_uc010fas.1_RNA|THADA_uc002rsz.2_Missense_Mutation_p.E787Q|THADA_uc010fat.1_Missense_Mutation_p.E225Q|THADA_uc002rta.2_Missense_Mutation_p.E788Q NM_001083953 NP_001077422 Q6YHU6 THADA_HUMAN thyroid adenoma associated 1078 binding ovary(2)|skin(1) 3 Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837) TCAGAAGATTCTGGCACAGGC 0.418 43 132 --- --- --- --- PASS C1D 10438 broad.mit.edu 37 2 68270067 68270067 + Nonsense_Mutation SNP G T T TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr2:68270067G>T uc002sea.3 - 5 462 c.380C>A c.(379-381)TCG>TAG p.S127* C1D_uc002seb.2_Nonsense_Mutation_p.S127*|C1D_uc002sec.2_Nonsense_Mutation_p.S127*|C1D_uc010fdc.2_Nonsense_Mutation_p.S127* NM_173177 NP_775269 Q13901 C1D_HUMAN nuclear DNA-binding protein 127 Interaction with NCOR1 and NCOR2 (By similarity). apoptosis|maturation of 5.8S rRNA|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nuclear exosome (RNase complex)|nucleolus DNA binding|RNA binding 0 TGCATTTTTCGATTTTGGTTC 0.328 12 40 --- --- --- --- PASS C2orf78 388960 broad.mit.edu 37 2 74043430 74043430 + Silent SNP C T T TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr2:74043430C>T uc002sjr.1 + 3 2201 c.2080C>T c.(2080-2082)CTA>TTA p.L694L NM_001080474 NP_001073943 A6NCI8 CB078_HUMAN hypothetical protein LOC388960 694 ovary(2) 2 GGCCCAGAAACTAGATGGTAG 0.502 48 68 --- --- --- --- PASS AUP1 550 broad.mit.edu 37 2 74756577 74756577 + Missense_Mutation SNP C T T TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr2:74756577C>T uc010yry.1 - 2 318 c.100G>A c.(100-102)GTC>ATC p.V34I AUP1_uc002sme.2_5'Flank|AUP1_uc002smf.2_Missense_Mutation_p.V34I|AUP1_uc002smg.2_RNA|AUP1_uc002smh.2_5'UTR|AUP1_uc010yrx.1_Silent_p.Q64Q|HTRA2_uc002smi.1_5'UTR|HTRA2_uc002smj.1_5'UTR|HTRA2_uc002smk.1_5'UTR|HTRA2_uc002sml.1_5'UTR|HTRA2_uc002smm.1_5'Flank|HTRA2_uc002smn.1_5'Flank|HTRA2_uc010ffl.2_5'Flank Q9Y679 AUP1_HUMAN SubName: Full=cDNA FLJ58836, highly similar to Ancient ubiquitous protein 1; 34 Helical; Signal-anchor for type III membrane protein; (Potential). endoplasmic reticulum membrane|integral to membrane|nucleus protein binding 0 CAGAACCCGACTGGCGCGTAG 0.677 3 4 --- --- --- --- PASS C2orf65 130951 broad.mit.edu 37 2 74789483 74789483 + Missense_Mutation SNP G C C TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr2:74789483G>C uc002smy.2 - 8 1259 c.1142C>G c.(1141-1143)GCC>GGC p.A381G C2orf65_uc010ysa.1_Missense_Mutation_p.A381G|C2orf65_uc010ffp.2_Intron|C2orf65_uc002smx.2_Missense_Mutation_p.A137G NM_138804 NP_620159 Q8TC57 CB065_HUMAN hypothetical protein LOC130951 381 chromatin assembly|female gamete generation|RNA processing|spermatogenesis integral to membrane ovary(1)|pancreas(1) 2 GAAGGTGCTGGCAGGAATTCT 0.557 49 135 --- --- --- --- PASS REG1B 5968 broad.mit.edu 37 2 79313628 79313628 + Silent SNP G T T TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr2:79313628G>T uc002sny.2 - 4 298 c.186C>A c.(184-186)CTC>CTA p.L62L REG1B_uc010ffv.1_Silent_p.L62L|REG1B_uc010ffw.2_3'UTR NM_006507 NP_006498 P48304 REG1B_HUMAN regenerating islet-derived 1 beta precursor 62 C-type lectin. cell proliferation extracellular region sugar binding central_nervous_system(1)|skin(1) 2 TCTGGCAATAGAGCTGTTGGA 0.498 24 106 --- --- --- --- PASS LRRTM1 347730 broad.mit.edu 37 2 80529460 80529460 + Silent SNP G A A TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr2:80529460G>A uc002sok.1 - 2 1755 c.1485C>T c.(1483-1485)AAC>AAT p.N495N 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 1 495 Cytoplasmic (Potential). axon|endoplasmic reticulum membrane|growth cone|integral to membrane ovary(3)|upper_aerodigestive_tract(1)|skin(1) 5 CCTCAATGTGGTTCGGTTTGT 0.542 HNSCC(69;0.2) 12 38 --- --- --- --- PASS LRRTM1 347730 broad.mit.edu 37 2 80529904 80529904 + Nonsense_Mutation SNP G T T TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr2:80529904G>T uc002sok.1 - 2 1311 c.1041C>A c.(1039-1041)TAC>TAA p.Y347* 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 1 347 LRRCT.|Lumenal (Potential). axon|endoplasmic reticulum membrane|growth cone|integral to membrane ovary(3)|upper_aerodigestive_tract(1)|skin(1) 5 CGCCCTGTGCGTACTCCGGGC 0.672 HNSCC(69;0.2) 8 15 --- --- --- --- PASS LRRTM1 347730 broad.mit.edu 37 2 80530704 80530704 + Missense_Mutation SNP G A A TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr2:80530704G>A uc002sok.1 - 2 511 c.241C>T c.(241-243)CGC>TGC p.R81C 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 81 Lumenal (Potential). axon|endoplasmic reticulum membrane|growth cone|integral to membrane ovary(3)|upper_aerodigestive_tract(1)|skin(1) 5 TGGCCGGCGCGCAGCTCCGAG 0.642 HNSCC(69;0.2) 17 85 --- --- --- --- PASS IL1RL1 9173 broad.mit.edu 37 2 102955449 102955449 + Missense_Mutation SNP C G G TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr2:102955449C>G uc002tbu.1 + 3 485 c.214C>G c.(214-216)CTG>GTG p.L72V IL1RL1_uc010ywa.1_5'UTR|IL18R1_uc002tbw.3_Intron|IL1RL1_uc002tbv.2_Missense_Mutation_p.L72V NM_016232 NP_057316 Q01638 ILRL1_HUMAN interleukin 1 receptor-like 1 isoform 1 72 Extracellular (Potential).|Ig-like C2-type 1. innate immune response integral to membrane interleukin-1 receptor activity|receptor signaling protein activity skin(2)|ovary(1)|central_nervous_system(1) 4 AGGCCAACTTCTGAAGTTTCT 0.433 204 206 --- --- --- --- PASS KYNU 8942 broad.mit.edu 37 2 143642976 143642976 + Missense_Mutation SNP C A A TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr2:143642976C>A uc002tvl.2 + 2 170 c.40C>A c.(40-42)CAG>AAG p.Q14K KYNU_uc002tvk.2_Missense_Mutation_p.Q14K|KYNU_uc010fnm.2_Missense_Mutation_p.Q14K NM_003937 NP_003928 Q16719 KYNU_HUMAN kynureninase (L-kynurenine hydrolase) isoform a 14 anthranilate metabolic process|NAD biosynthetic process|quinolinate biosynthetic process|response to interferon-gamma|response to vitamin B6 cytosol|mitochondrion|soluble fraction kynureninase activity|protein homodimerization activity skin(2) 2 BRCA - Breast invasive adenocarcinoma(221;0.072) L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114) TGACACAGTGCAGCGCATTGC 0.458 12 55 --- --- --- --- PASS GALNT13 114805 broad.mit.edu 37 2 155115534 155115534 + Missense_Mutation SNP G T T TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr2:155115534G>T uc002tyr.3 + 8 1425 c.858G>T c.(856-858)AGG>AGT p.R286S GALNT13_uc002tyt.3_Missense_Mutation_p.R286S|GALNT13_uc010foc.1_Missense_Mutation_p.R105S|GALNT13_uc010fod.2_Missense_Mutation_p.R39S NM_052917 NP_443149 Q8IUC8 GLT13_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide 286 Catalytic subdomain B.|Lumenal (Potential). Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding ovary(2)|pancreas(2)|central_nervous_system(1)|skin(1) 6 TTTCAACTAGGACCCCTACTA 0.348 23 39 --- --- --- --- PASS KCNJ3 3760 broad.mit.edu 37 2 155566273 155566273 + Missense_Mutation SNP C A A TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr2:155566273C>A uc002tyv.1 + 2 1056 c.861C>A c.(859-861)AGC>AGA p.S287R KCNJ3_uc010zce.1_Intron NM_002239 NP_002230 P48549 IRK3_HUMAN potassium inwardly-rectifying channel J3 287 Cytoplasmic (By similarity). synaptic transmission voltage-gated potassium channel complex G-protein activated inward rectifier potassium channel activity|protein binding upper_aerodigestive_tract(1)|pancreas(1) 2 Halothane(DB01159) CCCAGCGAAGCATGCAAACTG 0.428 18 112 --- --- --- --- PASS CYTIP 9595 broad.mit.edu 37 2 158272468 158272468 + Missense_Mutation SNP C A A rs34234589 byFrequency TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr2:158272468C>A uc002tzj.1 - 8 873 c.801G>T c.(799-801)GAG>GAT p.E267D CYTIP_uc010zcl.1_Missense_Mutation_p.E161D NM_004288 NP_004279 O60759 CYTIP_HUMAN cytohesin 1 interacting protein 267 Ser-rich. regulation of cell adhesion cell cortex|early endosome protein binding ovary(1)|kidney(1)|skin(1) 3 TGCTGGAGTCCTCAGACACAC 0.527 25 132 --- --- --- --- PASS KCNH7 90134 broad.mit.edu 37 2 163279922 163279922 + Missense_Mutation SNP G C C TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr2:163279922G>C uc002uch.1 - 9 2290 c.2078C>G c.(2077-2079)CCC>CGC p.P693R KCNH7_uc002uci.2_Missense_Mutation_p.P686R NM_033272 NP_150375 Q9NS40 KCNH7_HUMAN potassium voltage-gated channel, subfamily H, 693 Cytoplasmic (Potential). regulation of transcription, DNA-dependent integral to membrane protein binding|signal transducer activity ovary(3)|skin(2) 5 Ibutilide(DB00308) CAGAGGGTTGGGGATTTGGTG 0.438 37 258 --- --- --- --- PASS XIRP2 129446 broad.mit.edu 37 2 168105946 168105946 + Missense_Mutation SNP T G G TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr2:168105946T>G uc002udx.2 + 8 8062 c.8044T>G c.(8044-8046)TGT>GGT p.C2682G XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.C2507G|XIRP2_uc010fpq.2_Missense_Mutation_p.C2460G|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_Missense_Mutation_p.C28G NM_152381 NP_689594 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 isoform 1 2507 actin cytoskeleton organization cell junction actin binding skin(7)|ovary(6)|pancreas(1) 14 TCACCAAGAATGTAGTACCCA 0.363 24 162 --- --- --- --- PASS B3GALT1 8708 broad.mit.edu 37 2 168726198 168726198 + Missense_Mutation SNP C T T TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr2:168726198C>T uc002udz.1 + 2 1000 c.649C>T c.(649-651)CGC>TGC p.R217C NM_020981 NP_066191 Q9Y5Z6 B3GT1_HUMAN UDP-Gal:betaGlcNAc beta 217 Lumenal (Potential). lipid glycosylation|protein glycosylation Golgi membrane|integral to membrane UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity ovary(2)|pancreas(1)|skin(1) 4 TCGGGATGTCCGCAGTAAGTG 0.453 43 74 --- --- --- --- PASS LRP2 4036 broad.mit.edu 37 2 170019060 170019060 + Missense_Mutation SNP T C C TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr2:170019060T>C uc002ues.2 - 63 12022 c.11809A>G c.(11809-11811)AAT>GAT p.N3937D NM_004525 NP_004516 P98164 LRP2_HUMAN low density lipoprotein-related protein 2 3937 LDL-receptor class A 36.|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) CAATGCCCATTGCCACACTTA 0.378 89 87 --- --- --- --- PASS LRP2 4036 broad.mit.edu 37 2 170063381 170063381 + Silent SNP G A A TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr2:170063381G>A uc002ues.2 - 39 7062 c.6849C>T c.(6847-6849)ATC>ATT p.I2283I NM_004525 NP_004516 P98164 LRP2_HUMAN low density lipoprotein-related protein 2 2283 LDL-receptor class B 23.|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) CAAAAACAGTGATGCCATAAG 0.398 100 93 --- --- --- --- PASS KIAA1715 80856 broad.mit.edu 37 2 176794922 176794922 + Missense_Mutation SNP A C C TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr2:176794922A>C uc002ukc.1 - 13 1253 c.1060T>G c.(1060-1062)TTA>GTA p.L354V KIAA1715_uc010zer.1_Missense_Mutation_p.L385V|KIAA1715_uc010fqw.1_Missense_Mutation_p.L420V|KIAA1715_uc010zes.1_Missense_Mutation_p.L356V|KIAA1715_uc002ukd.1_Missense_Mutation_p.L231V|KIAA1715_uc010zet.1_RNA NM_030650 NP_085153 Q9C0E8 LNP_HUMAN Lunapark 354 Cytoplasmic (Potential). integral to membrane protein binding ovary(2)|skin(1) 3 OV - Ovarian serous cystadenocarcinoma(117;0.0793) TCGTGTTCTAAAGATTCTGAA 0.303 30 136 --- --- --- --- PASS HOXD8 3234 broad.mit.edu 37 2 176996059 176996059 + Nonsense_Mutation SNP C T T TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr2:176996059C>T uc002uko.2 + 2 1210 c.592C>T c.(592-594)CGA>TGA p.R198* uc002ukl.1_5'Flank|uc002ukm.1_5'Flank|HOXD8_uc002ukn.2_Nonsense_Mutation_p.R14*|HOXD8_uc002ukp.2_Nonsense_Mutation_p.R197* NM_019558 NP_062458 P13378 HXD8_HUMAN homeobox D8 198 Homeobox. anterior/posterior axis specification, embryo nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.195) Colorectal(32;0.0224)|READ - Rectum adenocarcinoma(9;0.0556) TCCTGGTAGACGAAGAGGAAG 0.408 36 161 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179599491 179599491 + Missense_Mutation SNP A G G TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr2:179599491A>G uc010zfg.1 - 48 11652 c.11428T>C c.(11428-11430)TGT>CGT p.C3810R TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.C471R NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 4737 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) ACTGCTTCACATGAGTAACTC 0.378 100 132 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179634798 179634798 + Missense_Mutation SNP A C C TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr2:179634798A>C uc010zfg.1 - 36 8854 c.8630T>G c.(8629-8631)CTG>CGG p.L2877R TTN_uc010zfh.1_Missense_Mutation_p.L2831R|TTN_uc010zfi.1_Missense_Mutation_p.L2831R|TTN_uc010zfj.1_Missense_Mutation_p.L2831R|TTN_uc002unb.2_Missense_Mutation_p.L2877R NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 2877 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) CTCCACAAACAGTTTTGCTTT 0.443 111 150 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179659273 179659273 + Silent SNP T C C TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr2:179659273T>C uc010zfg.1 - 8 1475 c.1251A>G c.(1249-1251)AAA>AAG p.K417K TTN_uc010zfh.1_Silent_p.K417K|TTN_uc010zfi.1_Silent_p.K417K|TTN_uc010zfj.1_Silent_p.K417K|TTN_uc002unb.2_Silent_p.K417K|TTN_uc010frg.1_Silent_p.K91K NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 417 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) CAGCATCTTGTTTCACCTAGA 0.428 30 157 --- --- --- --- PASS ZNF804A 91752 broad.mit.edu 37 2 185801309 185801309 + Missense_Mutation SNP C A A TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr2:185801309C>A uc002uph.2 + 4 1780 c.1186C>A c.(1186-1188)CCC>ACC p.P396T NM_194250 NP_919226 Q7Z570 Z804A_HUMAN zinc finger protein 804A 396 intracellular zinc ion binding ovary(6)|skin(3)|large_intestine(1)|pancreas(1) 11 TAAAAATGGTCCCGAGACATT 0.383 65 74 --- --- --- --- PASS ZSWIM2 151112 broad.mit.edu 37 2 187693061 187693061 + Missense_Mutation SNP C T T TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr2:187693061C>T uc002upu.1 - 9 1592 c.1552G>A c.(1552-1554)GTT>ATT p.V518I NM_182521 NP_872327 Q8NEG5 ZSWM2_HUMAN zinc finger, SWIM domain containing 2 518 apoptosis zinc ion binding ovary(2)|skin(1) 3 OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164) TTCTTATGAACAATAGGAGGA 0.383 16 59 --- --- --- --- PASS HECW2 57520 broad.mit.edu 37 2 197183429 197183429 + Missense_Mutation SNP C A A TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr2:197183429C>A uc002utm.1 - 9 2368 c.2185G>T c.(2185-2187)GAC>TAC p.D729Y HECW2_uc002utl.1_Missense_Mutation_p.D373Y NM_020760 NP_065811 Q9P2P5 HECW2_HUMAN HECT, C2 and WW domain containing E3 ubiquitin 729 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 TCCTCCTGGTCAGGTACAGTG 0.647 39 39 --- --- --- --- PASS FZD7 8324 broad.mit.edu 37 2 202900096 202900096 + Silent SNP G T T TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr2:202900096G>T uc002uyw.1 + 1 787 c.726G>T c.(724-726)CTG>CTT p.L242L NM_003507 NP_003498 O75084 FZD7_HUMAN frizzled 7 precursor 242 Extracellular (Potential). axonogenesis|brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|mesenchymal to epithelial transition|negative regulation of cell-substrate adhesion|negative regulation of ectodermal cell fate specification|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of phosphorylation|positive regulation of transcription, DNA-dependent|regulation of catenin import into nucleus|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway apical part of cell|cytoplasm|integral to membrane|neuron projection membrane G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding skin(2)|ovary(1)|breast(1) 4 CCAACGGCCTGATGTACTTTA 0.667 OREG0015146 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 22 92 --- --- --- --- PASS EEF1B2 1933 broad.mit.edu 37 2 207027298 207027298 + Silent SNP C T T rs2359156 TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr2:207027298C>T uc002vbf.1 + 6 641 c.483C>T c.(481-483)TGC>TGT p.C161C EEF1B2_uc002vbg.1_Silent_p.C161C|EEF1B2_uc002vbh.1_Silent_p.C161C NM_001037663 NP_001032752 P24534 EF1B_HUMAN eukaryotic translation elongation factor 1 beta 161 cytosol|eukaryotic translation elongation factor 1 complex protein binding|translation elongation factor activity 0 TAGAGGAGTGCGTCAGAAGCA 0.408 18 272 --- --- --- --- PASS ZDBF2 57683 broad.mit.edu 37 2 207169471 207169471 + Silent SNP T A A TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr2:207169471T>A uc002vbp.2 + 5 469 c.219T>A c.(217-219)ACT>ACA p.T73T NM_020923 NP_065974 Q9HCK1 ZDBF2_HUMAN zinc finger, DBF-type containing 2 73 nucleic acid binding|zinc ion binding ovary(3) 3 ATGTGAATACTGGGTCATCGT 0.388 70 53 --- --- --- --- PASS PIKFYVE 200576 broad.mit.edu 37 2 209191056 209191056 + Missense_Mutation SNP A G G TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr2:209191056A>G uc002vcz.2 + 20 3679 c.3521A>G c.(3520-3522)AAG>AGG p.K1174R PIKFYVE_uc010fun.1_Missense_Mutation_p.K855R|PIKFYVE_uc002vcy.1_Missense_Mutation_p.K1118R NM_015040 NP_055855 Q9Y2I7 FYV1_HUMAN phosphatidylinositol-3-phosphate 5-kinase type 1174 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 GCTCATTCAAAGGATGCATCA 0.473 32 41 --- --- --- --- PASS CPS1 1373 broad.mit.edu 37 2 211342491 211342491 + Splice_Site SNP G A A TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr2:211342491G>A uc010fur.2 + 1 82 c.3_splice c.e1+1 p.M1_splice LANCL1_uc010zjh.1_5'Flank|LANCL1_uc002ved.2_5'Flank|LANCL1_uc010fuq.2_5'Flank NM_001122633 NP_001116105 P31327 CPSM_HUMAN carbamoyl-phosphate synthetase 1 isoform a carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle mitochondrial nucleoid ATP binding|carbamoyl-phosphate synthase (ammonia) activity ovary(8)|central_nervous_system(3)|breast(1)|skin(1) 13 Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843) GAGGCCCATGGTGAGTCTTAA 0.378 12 44 --- --- --- --- PASS SPAG16 79582 broad.mit.edu 37 2 214878777 214878777 + Silent SNP C A A TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr2:214878777C>A uc002veq.2 + 13 1595 c.1503C>A c.(1501-1503)ACC>ACA p.T501T SPAG16_uc010fuz.1_Silent_p.T352T|SPAG16_uc002ver.2_Silent_p.T447T|SPAG16_uc010zjk.1_Silent_p.T407T NM_024532 NP_078808 Q8N0X2 SPG16_HUMAN sperm associated antigen 16 isoform 1 501 WD 4. 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) CAGACAAGACCCTGTCTATAT 0.383 35 160 --- --- --- --- PASS ABCA12 26154 broad.mit.edu 37 2 215813366 215813366 + Missense_Mutation SNP T C C TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr2:215813366T>C uc002vew.2 - 47 7278 c.7058A>G c.(7057-7059)TAT>TGT p.Y2353C ABCA12_uc002vev.2_Missense_Mutation_p.Y2035C|ABCA12_uc010zjn.1_Missense_Mutation_p.Y1280C NM_173076 NP_775099 Q86UK0 ABCAC_HUMAN ATP-binding cassette, sub-family A, member 12 2353 ABC transporter 2. cellular homeostasis|lipid transport integral to membrane ATP binding|ATPase activity ovary(6)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1) 11 Renal(323;0.127) Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011) GGCATAGAAATACAAATGTTC 0.378 3 85 --- --- --- --- PASS CHRND 1144 broad.mit.edu 37 2 233390967 233390967 + Silent SNP G A A TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr2:233390967G>A uc002vsw.2 + 1 46 c.42G>A c.(40-42)CTG>CTA p.L14L CHRND_uc010zmg.1_Silent_p.L14L|CHRND_uc010fyc.2_5'UTR|CHRND_uc010zmh.1_5'UTR NM_000751 NP_000742 Q07001 ACHD_HUMAN nicotinic acetylcholine receptor delta 14 muscle contraction|musculoskeletal movement|neuromuscular process|skeletal muscle tissue growth|synaptic transmission cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane nicotinic acetylcholine-activated cation-selective channel activity|receptor activity ovary(1)|breast(1)|skin(1) 3 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;1.89e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00078)|Lung(119;0.00579)|LUSC - Lung squamous cell carcinoma(224;0.00754) TGGCTGCCCTGGCGGTGTGTG 0.652 17 31 --- --- --- --- PASS LRRFIP1 9208 broad.mit.edu 37 2 238661985 238661985 + Nonsense_Mutation SNP A T T TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr2:238661985A>T uc002vxe.2 + 8 809 c.517A>T c.(517-519)AAG>TAG p.K173* LRRFIP1_uc002vxc.2_Nonsense_Mutation_p.K301*|LRRFIP1_uc010znm.1_Nonsense_Mutation_p.K117*|LRRFIP1_uc002vxd.2_Nonsense_Mutation_p.K149*|LRRFIP1_uc002vxf.2_Nonsense_Mutation_p.K117* NM_001137552 NP_001131024 Q32MZ4 LRRF1_HUMAN leucine rich repeat (in FLII) interacting 173 Potential. negative regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|cytoskeleton|nucleus DNA binding|double-stranded RNA binding|protein binding breast(3) 3 Breast(86;0.00257)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182) Epithelial(121;9.75e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.01e-10)|Kidney(56;4.85e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.31e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000151)|Lung(119;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0325)|COAD - Colon adenocarcinoma(134;0.228) GAAATATAAGAAGGCTATGGT 0.353 24 134 --- --- --- --- PASS MTERFD2 130916 broad.mit.edu 37 2 242035676 242035676 + Nonsense_Mutation SNP T A A TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr2:242035676T>A uc002wan.1 - 3 1463 c.970A>T c.(970-972)AGA>TGA p.R324* MTERFD2_uc010zoj.1_Nonsense_Mutation_p.R107* NM_182501 NP_872307 Q7Z6M4 MTER2_HUMAN MTERF domain containing 2 295 ovary(1) 1 all_cancers(19;4.67e-31)|all_epithelial(40;8.67e-13)|Breast(86;0.000141)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238) Epithelial(32;2.47e-32)|all cancers(36;1.79e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.59e-14)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;2.81e-06)|Lung(119;0.000509)|LUSC - Lung squamous cell carcinoma(224;0.00442)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0886) TCTGAAACTCTGAGAATGTCC 0.502 63 151 --- --- --- --- PASS ANO7 50636 broad.mit.edu 37 2 242128059 242128059 + Silent SNP C G G TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr2:242128059C>G uc002wax.2 + 1 136 c.33C>G c.(31-33)CTC>CTG p.L11L ANO7_uc002waw.2_Silent_p.L11L NM_001001891 NP_001001891 Q6IWH7 ANO7_HUMAN transmembrane protein 16G isoform NGEP long 11 Cytoplasmic (Potential). cell junction|chloride channel complex|cytosol chloride channel activity pancreas(2)|central_nervous_system(1) 3 GGGCGGGGCTCCAAGGGCCAC 0.687 15 25 --- --- --- --- PASS HDLBP 3069 broad.mit.edu 37 2 242192406 242192406 + Silent SNP G A A TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr2:242192406G>A uc002waz.2 - 11 1566 c.1338C>T c.(1336-1338)TTC>TTT p.F446F HDLBP_uc002wba.2_Silent_p.F446F|HDLBP_uc002wbb.2_Silent_p.F398F NM_203346 NP_976221 Q00341 VIGLN_HUMAN high density lipoprotein binding protein 446 KH 5. cholesterol metabolic process|lipid transport cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane lipid binding|protein binding|RNA binding breast(3)|skin(1) 4 all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928) GGTGCCTGTGGAACTTGTGGT 0.577 24 141 --- --- --- --- PASS CNTN4 152330 broad.mit.edu 37 3 3095514 3095514 + Silent SNP A G G TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr3:3095514A>G uc003bpc.2 + 23 3056 c.2835A>G c.(2833-2835)CAA>CAG p.Q945Q CNTN4_uc003bpe.2_Silent_p.Q617Q|CNTN4_uc003bpf.2_Silent_p.Q616Q|CNTN4_uc003bpg.2_Silent_p.Q201Q NM_175607 NP_783200 Q8IWV2 CNTN4_HUMAN contactin 4 isoform a precursor 945 Fibronectin type-III 4. axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity anchored to membrane|axon|extracellular region|plasma membrane protein binding large_intestine(2)|ovary(2)|lung(1)|central_nervous_system(1)|pancreas(1) 7 Ovarian(110;0.156) Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01) GGAACAGACAAAGCAGCACAT 0.408 25 44 --- --- --- --- PASS JAGN1 84522 broad.mit.edu 37 3 9934715 9934715 + Missense_Mutation SNP C A A TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr3:9934715C>A uc003btt.3 + 2 342 c.206C>A c.(205-207)GCC>GAC p.A69D CIDEC_uc003bto.2_Intron NM_032492 NP_115881 Q8N5M9 JAGN1_HUMAN jagunal homolog 1 69 Lumenal (Potential). endoplasmic reticulum membrane|integral to membrane ovary(1) 1 Medulloblastoma(99;0.227) GATCAGGTGGCCATGCCCTAT 0.512 16 69 --- --- --- --- PASS WNT7A 7476 broad.mit.edu 37 3 13916528 13916528 + Missense_Mutation SNP C T T TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr3:13916528C>T uc003bye.1 - 2 519 c.214G>A c.(214-216)GAG>AAG p.E72K NM_004625 NP_004616 O00755 WNT7A_HUMAN wingless-type MMTV integration site family, 72 E -> K (in LPHAS). activation of JUN kinase activity|anterior/posterior pattern formation|canonical Wnt receptor signaling pathway|cell proliferation in forebrain|cellular response to transforming growth factor beta stimulus|central nervous system vasculogenesis|cerebellar granule cell differentiation|dorsal/ventral pattern formation|embryonic axis specification|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic leg morphogenesis|lens fiber cell development|negative regulation of neurogenesis|palate development|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of JNK cascade|positive regulation of synaptogenesis|positive regulation of transcription from RNA polymerase II promoter|regulation of axon diameter|satellite cell activation|satellite cell maintenance involved in skeletal muscle regeneration|sex differentiation|uterus development|Wnt receptor signaling pathway involved in wound healing, spreading of epidermal cells|Wnt receptor signaling pathway, calcium modulating pathway extracellular space|plasma membrane|proteinaceous extracellular matrix cytokine activity|frizzled binding|receptor agonist activity|signal transducer activity ovary(2)|breast(1) 3 AACTGACACTCGTCCAGGCCC 0.597 30 55 --- --- --- --- PASS KIF15 56992 broad.mit.edu 37 3 44839159 44839159 + Silent SNP C T T TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr3:44839159C>T uc003cnx.3 + 9 1115 c.966C>T c.(964-966)TTC>TTT p.F322F KIF15_uc010hiq.2_Silent_p.F225F|KIF15_uc003cny.1_5'Flank NM_020242 NP_064627 Q9NS87 KIF15_HUMAN kinesin family member 15 322 blood coagulation|cell proliferation|microtubule-based movement|mitosis centrosome|cytosol|microtubule|plus-end kinesin complex|spindle ATP binding|DNA binding|microtubule motor activity ovary(1) 1 BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707) AACTTACCTTCTTACTACGGG 0.463 107 111 --- --- --- --- PASS LTF 4057 broad.mit.edu 37 3 46491504 46491504 + Silent SNP C T T TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr3:46491504C>T uc003cpq.2 - 8 935 c.897G>A c.(895-897)AAG>AAA p.K299K LTF_uc003fzr.2_Silent_p.K255K|LTF_uc010hjh.2_Silent_p.K299K|LTF_uc003cpr.2_Silent_p.K286K NM_002343 NP_002334 P02788 TRFL_HUMAN lactotransferrin precursor 299 Transferrin-like 1. cellular iron ion homeostasis|defense response to bacterium|humoral immune response|iron ion transport extracellular region|stored secretory granule ferric iron binding|heparin binding|protein binding|serine-type endopeptidase activity central_nervous_system(2)|ovary(1)|lung(1) 4 all cancers(1;7.55e-14)|GBM - Glioblastoma multiforme(1;2.1e-09)|Epithelial(1;9.25e-07)|Colorectal(1;3.81e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00129)|COAD - Colon adenocarcinoma(1;0.00308)|KIRC - Kidney renal clear cell carcinoma(197;0.0205)|Kidney(197;0.0242)|OV - Ovarian serous cystadenocarcinoma(275;0.089) Pefloxacin(DB00487) GTGACTTGTCCTTTCCAAACT 0.418 20 72 --- --- --- --- PASS KIF9 64147 broad.mit.edu 37 3 47289509 47289509 + Missense_Mutation SNP A T T TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr3:47289509A>T uc010hjp.2 - 12 1731 c.1127T>A c.(1126-1128)CTG>CAG p.L376Q KIF9_uc003cqx.2_Missense_Mutation_p.L376Q|KIF9_uc003cqy.2_Missense_Mutation_p.L376Q|KIF9_uc011bat.1_RNA|KIF9_uc011bau.1_RNA NM_001134878 NP_001128350 Q9HAQ2 KIF9_HUMAN kinesin family member 9 isoform 2 376 Potential. blood coagulation|microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity skin(1) 1 Acute lymphoblastic leukemia(5;0.164) BRCA - Breast invasive adenocarcinoma(193;0.000284)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007) GCCTCTTACCAGGCTGTCATG 0.582 105 107 --- --- --- --- PASS COL7A1 1294 broad.mit.edu 37 3 48604105 48604105 + Silent SNP C T T TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr3:48604105C>T uc003ctz.2 - 111 8293 c.8292G>A c.(8290-8292)GAG>GAA p.E2764E UCN2_uc003cty.1_5'Flank NM_000094 NP_000085 Q02388 CO7A1_HUMAN alpha 1 type VII collagen precursor 2764 Triple-helical region. cell adhesion|epidermis development basement membrane|collagen type VII protein binding|serine-type endopeptidase inhibitor activity ovary(4)|breast(3)|skin(3)|central_nervous_system(1) 11 BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) GCTCCCCTCTCTCGCCAGGAG 0.622 93 87 --- --- --- --- PASS SEMA3B 7869 broad.mit.edu 37 3 50313140 50313140 + Silent SNP G A A TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr3:50313140G>A uc003cyu.2 + 18 1952 c.1710G>A c.(1708-1710)TCG>TCA p.S570S SEMA3B_uc003cyt.2_Silent_p.S569S|SEMA3B_uc003cyv.2_Silent_p.S457S|SEMA3B_uc003cyw.2_Silent_p.S293S|SEMA3B_uc010hli.2_Silent_p.S462S|SEMA3B_uc003cyx.2_Silent_p.S456S|SEMA3B_uc003cyy.2_Silent_p.S227S|SEMA3B_uc011bdo.1_Silent_p.S227S NM_004636 NP_004627 Q13214 SEM3B_HUMAN semaphorin 3B isoform 1 precursor 570 axon guidance|cell-cell signaling endoplasmic reticulum|extracellular region|membrane receptor activity lung(2)|central_nervous_system(2)|kidney(1)|skin(1) 6 BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605) CCCAAGACTCGTCTCGTCCCG 0.657 15 33 --- --- --- --- PASS SEMA3G 56920 broad.mit.edu 37 3 52476800 52476800 + Missense_Mutation SNP G C C TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr3:52476800G>C uc003dea.1 - 2 239 c.239C>G c.(238-240)TCT>TGT p.S80C NM_020163 NP_064548 Q9NS98 SEM3G_HUMAN semaphorin sem2 precursor 80 Sema. multicellular organismal development extracellular region|membrane receptor activity ovary(2) 2 BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00173)|KIRC - Kidney renal clear cell carcinoma(197;0.00196)|OV - Ovarian serous cystadenocarcinoma(275;0.0333) CAGCCGCAGAGAGTAGAGGGC 0.632 13 8 --- --- --- --- PASS FRMD4B 23150 broad.mit.edu 37 3 69435102 69435102 + Silent SNP C A A TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr3:69435102C>A uc003dnv.2 - 1 329 c.39G>T c.(37-39)CTG>CTT p.L13L FRMD4B_uc003dnw.2_Intron|FRMD4B_uc003dny.2_Silent_p.L13L NM_015123 NP_055938 Q9Y2L6 FRM4B_HUMAN FERM domain containing 4B 13 cytoplasm|cytoskeleton binding ovary(3)|central_nervous_system(1) 4 Lung NSC(201;0.0138)|Prostate(884;0.11) BRCA - Breast invasive adenocarcinoma(55;0.000201)|Epithelial(33;0.00141)|LUSC - Lung squamous cell carcinoma(21;0.00999)|Lung(16;0.0182) TGCCGCTGAACAGCAGGTCCT 0.657 5 2 --- --- --- --- PASS OR5H14 403273 broad.mit.edu 37 3 97868308 97868308 + Missense_Mutation SNP C A A TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr3:97868308C>A uc003dsg.1 + 1 79 c.79C>A c.(79-81)CTG>ATG p.L27M NM_001005514 NP_001005514 A6NHG9 O5H14_HUMAN olfactory receptor, family 5, subfamily H, 27 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 GAAAATACCCCTGTTCCTGGC 0.418 114 453 --- --- --- --- PASS COL8A1 1295 broad.mit.edu 37 3 99514435 99514435 + Missense_Mutation SNP C A A TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr3:99514435C>A uc003dtg.1 + 5 1935 c.1690C>A c.(1690-1692)CCT>ACT p.P564T COL8A1_uc003dth.1_Missense_Mutation_p.P564T|COL8A1_uc003dti.1_Missense_Mutation_p.P565T NM_001850 NP_001841 P27658 CO8A1_HUMAN alpha 1 type VIII collagen precursor 564 Triple-helical region (COL1). angiogenesis|cell adhesion basement membrane|collagen type VIII 0 acccccaggccctccaggacc 0.488 67 42 --- --- --- --- PASS FAM55C 91775 broad.mit.edu 37 3 101535666 101535666 + Missense_Mutation SNP G T T TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr3:101535666G>T uc003dvn.2 + 7 1587 c.950G>T c.(949-951)GGC>GTC p.G317V FAM55C_uc010hpn.2_Missense_Mutation_p.G317V NM_145037 NP_659474 Q969Y0 FA55C_HUMAN hypothetical protein LOC91775 precursor 317 extracellular region ovary(1)|pancreas(1)|skin(1) 3 CTATCTCAAGGCTCAGGAACT 0.358 19 229 --- --- --- --- PASS PHLDB2 90102 broad.mit.edu 37 3 111632246 111632246 + Silent SNP C T T rs112434778 TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr3:111632246C>T uc010hqa.2 + 3 1827 c.1416C>T c.(1414-1416)ACC>ACT p.T472T PHLDB2_uc003dyc.2_Silent_p.T499T|PHLDB2_uc003dyd.2_Silent_p.T472T|PHLDB2_uc003dyg.2_Silent_p.T472T|PHLDB2_uc003dyh.2_Silent_p.T472T|PHLDB2_uc003dyi.2_Silent_p.T58T|PHLDB2_uc003dyf.3_Silent_p.T472T NM_001134438 NP_001127910 Q86SQ0 PHLB2_HUMAN pleckstrin homology-like domain, family B, 472 cytoplasm|intermediate filament cytoskeleton|plasma membrane ovary(4)|skin(2) 6 CTGGGACCACCGTGGAAGATG 0.522 90 335 --- --- --- --- PASS SIDT1 54847 broad.mit.edu 37 3 113320481 113320481 + Silent SNP C T T TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr3:113320481C>T uc003eak.2 + 11 1743 c.1092C>T c.(1090-1092)CCC>CCT p.P364P SIDT1_uc011bif.1_RNA|SIDT1_uc003eaj.1_Silent_p.P364P|SIDT1_uc011big.1_Silent_p.P117P|SIDT1_uc011bih.1_5'Flank NM_017699 NP_060169 Q9NXL6 SIDT1_HUMAN SID1 transmembrane family, member 1 precursor 364 Cytoplasmic (Potential). integral to membrane ovary(3)|pancreas(1)|skin(1) 5 CCAGCACACCCGAAGGGAGCA 0.413 21 130 --- --- --- --- PASS ATP6V1A 523 broad.mit.edu 37 3 113524219 113524219 + Missense_Mutation SNP G C C TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr3:113524219G>C uc003eao.2 + 14 1674 c.1608G>C c.(1606-1608)AAG>AAC p.K536N ATP6V1A_uc011bik.1_Missense_Mutation_p.K503N NM_001690 NP_001681 P38606 VATA_HUMAN ATPase, H+ transporting, lysosomal V1 subunit A 536 ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport cytosol|integral to plasma membrane|proton-transporting V-type ATPase, V1 domain ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism ovary(2)|skin(1) 3 CATTCTACAAGACAGTAGGGA 0.358 49 224 --- --- --- --- PASS ZDHHC23 254887 broad.mit.edu 37 3 113672693 113672693 + Missense_Mutation SNP T G G TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr3:113672693T>G uc003eau.2 + 3 607 c.308T>G c.(307-309)CTT>CGT p.L103R ZDHHC23_uc003eav.2_Missense_Mutation_p.L97R NM_173570 NP_775841 Q8IYP9 ZDH23_HUMAN zinc finger, DHHC domain containing 23 103 Helical; (Potential). integral to membrane acyltransferase activity|zinc ion binding ovary(2) 2 CCTGTCTTCCTTCATGTGGCT 0.512 8 751 --- --- --- --- PASS C3orf30 152405 broad.mit.edu 37 3 118865502 118865502 + Missense_Mutation SNP A G G TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr3:118865502A>G uc003ecb.1 + 1 506 c.466A>G c.(466-468)AGA>GGA p.R156G IGSF11_uc003eby.2_5'Flank|IGSF11_uc003ebz.2_5'Flank|IGSF11_uc010hqs.2_5'Flank|C3orf30_uc011biw.1_Missense_Mutation_p.R156G NM_152539 NP_689752 Q96M34 CC030_HUMAN hypothetical protein LOC152405 156 ovary(2) 2 GBM - Glioblastoma multiforme(114;0.222) CCAGGCTGAGAGAAGAACTTC 0.502 38 136 --- --- --- --- PASS MCM2 4171 broad.mit.edu 37 3 127327752 127327752 + Silent SNP C T T TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr3:127327752C>T uc003ejp.2 + 8 1371 c.1314C>T c.(1312-1314)GTC>GTT p.V438V MCM2_uc011bkm.1_Silent_p.V308V|MCM2_uc010hsl.2_RNA|MCM2_uc011bkn.1_Silent_p.V322V NM_004526 NP_004517 P49736 MCM2_HUMAN minichromosome maintenance complex component 2 438 cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle chromatin|MCM complex ATP binding|helicase activity|metal ion binding ovary(3)|skin(1) 4 TTGCCACTGTCATCCTAGCCA 0.527 55 312 --- --- --- --- PASS ACAD9 28976 broad.mit.edu 37 3 128612406 128612406 + Nonsense_Mutation SNP C T T rs148694290 TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr3:128612406C>T uc003ela.3 + 3 455 c.253C>T c.(253-255)CGA>TGA p.R85* ACAD9_uc010hsw.1_5'UTR|ACAD9_uc011bks.1_5'UTR|ACAD9_uc003elb.2_5'UTR NM_014049 NP_054768 Q9H845 ACAD9_HUMAN acyl-Coenzyme A dehydrogenase family, member 9 85 mitochondrion acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding ovary(2)|central_nervous_system(1) 3 AGTGGACTCCCGAAAAATTGA 0.358 4 121 --- --- --- --- PASS ZIC4 84107 broad.mit.edu 37 3 147114007 147114007 + Missense_Mutation SNP A G G TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr3:147114007A>G uc003ewd.1 - 3 593 c.320T>C c.(319-321)CTC>CCC p.L107P ZIC4_uc003ewc.1_Missense_Mutation_p.L37P|ZIC4_uc011bno.1_Missense_Mutation_p.L157P NM_032153 NP_115529 Q8N9L1 ZIC4_HUMAN zinc finger protein of the cerebellum 4 107 nucleus DNA binding|zinc ion binding upper_aerodigestive_tract(1)|central_nervous_system(1) 2 GGGCGCAGCGAGGTTCACCGT 0.711 37 41 --- --- --- --- PASS ZIC1 7545 broad.mit.edu 37 3 147128194 147128194 + Missense_Mutation SNP G T T TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr3:147128194G>T uc003ewe.2 + 1 1014 c.295G>T c.(295-297)GAC>TAC p.D99Y NM_003412 NP_003403 Q15915 ZIC1_HUMAN zinc finger protein of the cerebellum 1 99 behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|central_nervous_system(1) 2 CTCCACGCGGGACTTTCTGTT 0.701 6 50 --- --- --- --- PASS AGTR1 185 broad.mit.edu 37 3 148459455 148459455 + Missense_Mutation SNP T G G TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr3:148459455T>G uc003ewg.2 + 4 1079 c.633T>G c.(631-633)ATT>ATG p.I211M AGTR1_uc003ewh.2_Missense_Mutation_p.I211M|AGTR1_uc003ewi.2_Missense_Mutation_p.I211M|AGTR1_uc003ewj.2_Missense_Mutation_p.I211M|AGTR1_uc003ewk.2_Missense_Mutation_p.I211M NM_031850 NP_114038 P30556 AGTR1_HUMAN angiotensin II receptor, type 1 211 Helical; Name=5; (Potential). calcium-mediated signaling|cell chemotaxis|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|kidney development|low-density lipoprotein particle remodeling|positive regulation of cellular protein metabolic process|positive regulation of cholesterol esterification|positive regulation of inflammatory response|positive regulation of NAD(P)H oxidase activity|positive regulation of phospholipase A2 activity|positive regulation of reactive oxygen species metabolic process|regulation of cell growth|regulation of cell proliferation|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|Rho protein signal transduction acetyltransferase activator activity|angiotensin type I receptor activity|angiotensin type II receptor activity|bradykinin receptor binding|protein heterodimerization activity 0 LUSC - Lung squamous cell carcinoma(72;0.127)|Lung(72;0.152) Candesartan(DB00796)|Eprosartan(DB00876)|Forasartan(DB01342)|Irbesartan(DB01029)|Losartan(DB00678)|Olmesartan(DB00275)|Saprisartan(DB01347)|Spironolactone(DB00421)|Tasosartan(DB01349)|Telmisartan(DB00966)|Valsartan(DB00177) TTCTGATCATTCTTACAAGTT 0.368 31 170 --- --- --- --- PASS GPR87 53836 broad.mit.edu 37 3 151012946 151012946 + Missense_Mutation SNP G A A TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr3:151012946G>A uc003eyt.2 - 3 449 c.88C>T c.(88-90)CCA>TCA p.P30S MED12L_uc011bnz.1_Intron|MED12L_uc003eyp.2_Intron NM_023915 NP_076404 Q9BY21 GPR87_HUMAN G protein-coupled receptor 87 30 Extracellular (Potential). integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled large_intestine(1) 1 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) TTCTTTCCTGGCCCGTCGCTC 0.483 33 353 --- --- --- --- PASS MME 4311 broad.mit.edu 37 3 154864963 154864963 + Missense_Mutation SNP C G G TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr3:154864963C>G uc010hvr.1 + 15 1658 c.1447C>G c.(1447-1449)CCT>GCT p.P483A MME_uc003fab.1_Missense_Mutation_p.P483A|MME_uc003fac.1_Missense_Mutation_p.P483A|MME_uc003fad.1_Missense_Mutation_p.P483A|MME_uc003fae.1_Missense_Mutation_p.P483A NM_007289 NP_009220 P08473 NEP_HUMAN membrane metallo-endopeptidase 483 Extracellular (Potential). cell-cell signaling|proteolysis integral to plasma membrane metal ion binding|metalloendopeptidase activity|protein binding ovary(2)|central_nervous_system(1) 3 all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122) LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135) Candoxatril(DB00616) GATCGGCTATCCTGATGACAT 0.328 16 256 --- --- --- --- PASS PLCH1 23007 broad.mit.edu 37 3 155200211 155200211 + Missense_Mutation SNP C T T TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr3:155200211C>T uc011bok.1 - 23 3905 c.3628G>A c.(3628-3630)GCT>ACT p.A1210T PLCH1_uc011boj.1_3'UTR|PLCH1_uc011bol.1_Missense_Mutation_p.A1172T NM_001130960 NP_001124432 Q4KWH8 PLCH1_HUMAN phospholipase C eta 1 isoform a 1210 lipid catabolic process|phosphatidylinositol-mediated signaling membrane calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity skin(3)|ovary(1) 4 Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114) ACTGTGAGAGCCTGATTGTTG 0.448 48 170 --- --- --- --- PASS SLITRK3 22865 broad.mit.edu 37 3 164906409 164906409 + Missense_Mutation SNP C A A TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr3:164906409C>A uc003fej.3 - 2 2654 c.2210G>T c.(2209-2211)GGT>GTT p.G737V SLITRK3_uc003fek.2_Missense_Mutation_p.G737V NM_014926 NP_055741 O94933 SLIK3_HUMAN slit and trk like 3 protein precursor 737 Cytoplasmic (Potential). integral to membrane ovary(6)|skin(3)|pancreas(1) 10 ATACACATGACCCACGGGAGG 0.453 HNSCC(40;0.11) 29 210 --- --- --- --- PASS SLITRK3 22865 broad.mit.edu 37 3 164906410 164906410 + Missense_Mutation SNP C T T TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr3:164906410C>T uc003fej.3 - 2 2653 c.2209G>A c.(2209-2211)GGT>AGT p.G737S SLITRK3_uc003fek.2_Missense_Mutation_p.G737S NM_014926 NP_055741 O94933 SLIK3_HUMAN slit and trk like 3 protein precursor 737 Cytoplasmic (Potential). integral to membrane ovary(6)|skin(3)|pancreas(1) 10 TACACATGACCCACGGGAGGG 0.458 HNSCC(40;0.11) 28 206 --- --- --- --- PASS BCHE 590 broad.mit.edu 37 3 165547936 165547936 + Missense_Mutation SNP C G G TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr3:165547936C>G uc003fem.3 - 2 1046 c.886G>C c.(886-888)GAT>CAT p.D296H BCHE_uc003fen.3_Intron NM_000055 NP_000046 P06276 CHLE_HUMAN butyrylcholinesterase precursor 296 choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic endoplasmic reticulum lumen|extracellular space|membrane acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding ovary(3)|pancreas(1) 4 Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116) TCTTGGGGATCTTTATTTCTA 0.393 42 268 --- --- --- --- PASS WDR49 151790 broad.mit.edu 37 3 167248946 167248946 + Missense_Mutation SNP C A A TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr3:167248946C>A uc003fev.1 - 9 1425 c.1119G>T c.(1117-1119)ATG>ATT p.M373I WDR49_uc003feu.1_Missense_Mutation_p.M198I|WDR49_uc011bpd.1_Missense_Mutation_p.M437I|WDR49_uc003few.1_Intron NM_178824 NP_849146 Q8IV35 WDR49_HUMAN WD repeat domain 49 373 WD 6. large_intestine(1)|ovary(1)|skin(1) 3 AGCAAAGTCTCATAACAGCAT 0.418 49 294 --- --- --- --- PASS PIK3CA 5290 broad.mit.edu 37 3 178936091 178936091 + Missense_Mutation SNP G A A rs104886003 TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr3:178936091G>A uc003fjk.2 + 10 1790 c.1633G>A c.(1633-1635)GAG>AAG p.E545K NM_006218 NP_006209 P42336 PK3CA_HUMAN phosphoinositide-3-kinase, catalytic, alpha 545 PI3K helical. E -> G (in KERSEB).|E -> A (in cancer).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells). epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity p.E545K(735)|p.E545A(75)|p.E545G(55)|p.E545?(19)|p.E545D(15)|p.E545Q(12)|p.E545V(4) breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1) 3553 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) TGAAATCACTGAGCAGGAGAA 0.353 E545K(RERFLCSQ1_LUNG)|E545K(KYSE510_OESOPHAGUS)|E545K(NCIH508_LARGE_INTESTINE)|E545K(HCC202_BREAST)|E545K(BFTC909_KIDNEY)|E545K(HCT15_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(MCF7_BREAST)|E545K(NCIH460_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(BC3C_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(TE5_OESOPHAGUS) 57 Mis colorectal|gastric|gliobastoma|breast HNSCC(19;0.045)|TSP Lung(28;0.18) 38 107 --- --- --- --- PASS TTC14 151613 broad.mit.edu 37 3 180327770 180327770 + Missense_Mutation SNP G C C TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr3:180327770G>C uc003fkk.2 + 12 1885 c.1753G>C c.(1753-1755)GAA>CAA p.E585Q TTC14_uc003fkl.2_3'UTR|TTC14_uc003fkm.2_Missense_Mutation_p.E585Q NM_133462 NP_597719 Q96N46 TTC14_HUMAN tetratricopeptide repeat domain 14 isoform a 585 RNA binding ovary(1) 1 all_cancers(143;9.31e-15)|Ovarian(172;0.0212) OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558) ATCTTCACTTGAAATACCGGA 0.383 23 872 --- --- --- --- PASS FXR1 8087 broad.mit.edu 37 3 180630511 180630511 + Missense_Mutation SNP G T T TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr3:180630511G>T uc003fkq.2 + 1 60 c.38G>T c.(37-39)GGG>GTG p.G13V FXR1_uc003fkp.2_5'UTR|FXR1_uc003fkr.2_Missense_Mutation_p.G13V|FXR1_uc011bqj.1_5'UTR|FXR1_uc003fks.2_5'UTR|FXR1_uc011bqk.1_Missense_Mutation_p.G13V|FXR1_uc011bql.1_5'Flank NM_005087 NP_005078 P51114 FXR1_HUMAN fragile X mental retardation-related protein 1 13 apoptosis|cell differentiation|muscle organ development nucleolus|polysome breast(1) 1 all_cancers(143;6.07e-14)|Ovarian(172;0.0212) Epithelial(37;3.05e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.4e-22) GGCTCTAACGGGGCTTTCTAC 0.522 OREG0015934 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 70 352 --- --- --- --- PASS MCCC1 56922 broad.mit.edu 37 3 182789018 182789018 + Missense_Mutation SNP C G G rs149268368 by1000genomes TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr3:182789018C>G uc003fle.2 - 6 756 c.619G>C c.(619-621)GTC>CTC p.V207L MCCC1_uc010hxi.2_RNA|MCCC1_uc011bqo.1_RNA|MCCC1_uc003flf.2_Missense_Mutation_p.V90L|MCCC1_uc003flg.2_Missense_Mutation_p.V98L|MCCC1_uc011bqp.1_Missense_Mutation_p.V160L|MCCC1_uc011bqq.1_Missense_Mutation_p.V98L NM_020166 NP_064551 Q96RQ3 MCCA_HUMAN methylcrotonoyl-Coenzyme A carboxylase 1 (alpha) 207 Biotin carboxylation.|ATP-grasp. 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) CCACCCCGGACGGCTTTAATC 0.443 58 237 --- --- --- --- PASS MCF2L2 23101 broad.mit.edu 37 3 182948794 182948794 + Missense_Mutation SNP C A A TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr3:182948794C>A uc003fli.1 - 16 1964 c.1874G>T c.(1873-1875)CGT>CTT p.R625L MCF2L2_uc003flj.1_Missense_Mutation_p.R625L|MCF2L2_uc011bqr.1_RNA NM_015078 NP_055893 Q86YR7 MF2L2_HUMAN Rho family guanine-nucleotide exchange factor 625 DH. regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity ovary(2)|large_intestine(2)|breast(1) 5 all_cancers(143;1.26e-12)|Ovarian(172;0.0355) all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21) AAGCAAGTCACGTATAATGCG 0.393 28 150 --- --- --- --- PASS FETUB 26998 broad.mit.edu 37 3 186358324 186358324 + Silent SNP C A A TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr3:186358324C>A uc010hyq.2 + 2 336 c.75C>A c.(73-75)GCC>GCA p.A25A FETUB_uc011brz.1_Intron|FETUB_uc003fqn.2_Silent_p.A25A|FETUB_uc003fqo.2_5'UTR|FETUB_uc010hyr.2_Silent_p.A25A|FETUB_uc010hys.2_5'UTR|FETUB_uc003fqp.3_Silent_p.A25A NM_014375 NP_055190 Q9UGM5 FETUB_HUMAN fetuin B precursor 25 Cystatin fetuin-B-type 1. extracellular space cysteine-type endopeptidase inhibitor activity ovary(1)|lung(1) 2 all_cancers(143;6.64e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;5.73e-20) GBM - Glioblastoma multiforme(93;0.0479) CCCAGCTGGCCCTCAACCCCT 0.587 204 667 --- --- --- --- PASS MASP1 5648 broad.mit.edu 37 3 186980461 186980461 + Silent SNP G T T TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr3:186980461G>T uc003frh.1 - 3 617 c.285C>A c.(283-285)ACC>ACA p.T95T MASP1_uc003fri.2_Silent_p.T95T|MASP1_uc003frj.2_Silent_p.T64T|MASP1_uc003frk.1_Silent_p.T95T|MASP1_uc011bse.1_Silent_p.T69T NM_001879 NP_001870 P48740 MASP1_HUMAN mannan-binding lectin serine protease 1 isoform 95 Interaction with FCN2.|Interaction with MBL2.|Homodimerization (By similarity).|CUB 1. complement activation, lectin pathway|negative regulation of complement activation|proteolysis extracellular space calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity ovary(2)|breast(1)|liver(1) 4 all_cancers(143;5.33e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;3.49e-18) GBM - Glioblastoma multiforme(93;0.0366) CTGTGTCTGTGGTCTCCCTGC 0.542 20 97 --- --- --- --- PASS RTP2 344892 broad.mit.edu 37 3 187419842 187419842 + Missense_Mutation SNP G C C TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr3:187419842G>C uc003fro.1 - 1 504 c.75C>G c.(73-75)GAC>GAG p.D25E NM_001004312 NP_001004312 Q5QGT7 RTP2_HUMAN receptor transporting protein 2 25 Cytoplasmic (Potential). protein insertion into membrane cell surface|integral to membrane|plasma membrane olfactory receptor binding 0 all_cancers(143;4.06e-12)|Ovarian(172;0.0418) OV - Ovarian serous cystadenocarcinoma(80;1.76e-18) GBM - Glioblastoma multiforme(93;0.0515) GCTCCCAGCTGTCCGCTGGCT 0.577 146 603 --- --- --- --- PASS LPP 4026 broad.mit.edu 37 3 188584118 188584118 + Missense_Mutation SNP T G G TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr3:188584118T>G uc003frs.1 + 9 1787 c.1541T>G c.(1540-1542)TTC>TGC p.F514C LPP_uc011bsg.1_Missense_Mutation_p.F367C|LPP_uc011bsi.1_Missense_Mutation_p.F514C|LPP_uc011bsj.1_Missense_Mutation_p.F351C NM_005578 NP_005569 Q93052 LPP_HUMAN LIM domain containing preferred translocation 514 LIM zinc-binding 2. cell adhesion cytoplasm|focal adhesion|nucleus protein binding|zinc ion binding HMGA2/LPP(161) soft_tissue(134)|bone(27)|lung(2)|ovary(1)|breast(1) 165 all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088) all_lung(153;0.00139)|Lung NSC(153;0.00202) GBM - Glioblastoma multiforme(93;0.00602) GGGATCCCATTCACTGTGGAT 0.562 T HMGA2|MLL|C12orf9 lipoma|leukemia 45 176 --- --- --- --- PASS GP5 2814 broad.mit.edu 37 3 194118433 194118433 + Silent SNP C T T TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr3:194118433C>T uc003ftv.1 - 2 610 c.579G>A c.(577-579)CAG>CAA p.Q193Q NM_004488 NP_004479 P40197 GPV_HUMAN glycoprotein V (platelet) precursor 193 Extracellular (Potential).|LRR 5. blood coagulation, intrinsic pathway|cell adhesion|platelet activation integral to plasma membrane skin(2)|breast(1) 3 all_cancers(143;6.64e-09)|Ovarian(172;0.0634) Melanoma(1037;0.211) OV - Ovarian serous cystadenocarcinoma(49;7.38e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;4.06e-05) CGAGCTTAGCCTGTGCTCCAA 0.567 57 333 --- --- --- --- PASS GP5 2814 broad.mit.edu 37 3 194118476 194118476 + Missense_Mutation SNP C T T TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr3:194118476C>T uc003ftv.1 - 2 567 c.536G>A c.(535-537)GGA>GAA p.G179E NM_004488 NP_004479 P40197 GPV_HUMAN glycoprotein V (platelet) precursor 179 Extracellular (Potential).|LRR 5. blood coagulation, intrinsic pathway|cell adhesion|platelet activation integral to plasma membrane skin(2)|breast(1) 3 all_cancers(143;6.64e-09)|Ovarian(172;0.0634) Melanoma(1037;0.211) OV - Ovarian serous cystadenocarcinoma(49;7.38e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;4.06e-05) CAGGTTGTTTCCCGATAAATC 0.537 54 295 --- --- --- --- PASS TNK2 10188 broad.mit.edu 37 3 195605216 195605216 + Silent SNP G A A TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr3:195605216G>A uc003fvu.1 - 9 1707 c.1164C>T c.(1162-1164)GCC>GCT p.A388A TNK2_uc003fvs.1_Silent_p.A420A|TNK2_uc003fvt.1_Silent_p.A451A|TNK2_uc010hzw.1_RNA|TNK2_uc003fvv.1_Silent_p.A218A NM_005781 NP_005772 Q07912 ACK1_HUMAN tyrosine kinase, non-receptor, 2 isoform 1 388 SH3. Missing (in Ref. 4; AAH08884). positive regulation of peptidyl-tyrosine phosphorylation|protein ubiquitination|small GTPase mediated signal transduction adherens junction|cytoplasmic vesicle membrane|endosome|nucleus ATP binding|GTPase inhibitor activity|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding ovary(3)|central_nervous_system(3)|lung(2)|stomach(1)|skin(1) 10 all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;0.000757) Adenosine triphosphate(DB00171) CTGTGGGCTGGGCCTGGAGGA 0.602 127 359 --- --- --- --- PASS PIGG 54872 broad.mit.edu 37 4 494382 494382 + Silent SNP C A A TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr4:494382C>A uc003gak.3 + 2 488 c.352C>A c.(352-354)CGA>AGA p.R118R PIGG_uc003gaj.3_Silent_p.R118R|PIGG_uc011bux.1_RNA|PIGG_uc010ibf.2_Silent_p.R118R|PIGG_uc003gal.3_Silent_p.R29R|ZNF721_uc003gag.2_5'Flank|ZNF721_uc010ibe.2_5'Flank|ZNF721_uc003gah.1_5'Flank|PIGG_uc003gai.2_RNA|PIGG_uc011buw.1_5'UTR|PIGG_uc003gam.2_Silent_p.R29R|PIGG_uc003gan.2_Silent_p.R29R NM_001127178 NP_001120650 Q5H8A4 PIGG_HUMAN phosphatidylinositol glycan anchor biosynthesis, 118 Lumenal (Potential). C-terminal protein lipidation|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|integral to membrane CP2 mannose-ethanolamine phosphotransferase activity central_nervous_system(2)|ovary(1)|skin(1) 4 TACTATGCCTCGAATCAAGGT 0.408 3 80 --- --- --- --- PASS SLIT2 9353 broad.mit.edu 37 4 20255601 20255601 + Missense_Mutation SNP C T T TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr4:20255601C>T uc003gpr.1 + 1 367 c.163C>T c.(163-165)CGC>TGC p.R55C SLIT2_uc003gps.1_Missense_Mutation_p.R55C NM_004787 NP_004778 O94813 SLIT2_HUMAN slit homolog 2 precursor 55 LRRNT. 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 GAATATCCCCCGCAACACCGA 0.672 18 93 --- --- --- --- PASS PDS5A 23244 broad.mit.edu 37 4 39875994 39875994 + Missense_Mutation SNP C G G TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr4:39875994C>G uc003guv.3 - 20 2732 c.2192G>C c.(2191-2193)GGT>GCT p.G731A PDS5A_uc010ifo.2_Missense_Mutation_p.G691A NM_001100399 NP_001093869 Q29RF7 PDS5A_HUMAN PDS5, regulator of cohesion maintenance, homolog 731 cell division|mitosis|negative regulation of DNA replication chromatin|nucleus identical protein binding 0 GTGTGGAGTACCCCTCTTTGC 0.343 4 74 --- --- --- --- PASS CHRNA9 55584 broad.mit.edu 37 4 40339267 40339267 + Missense_Mutation SNP G A A TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr4:40339267G>A uc003gva.1 + 3 267 c.251G>A c.(250-252)CGC>CAC p.R84H NM_017581 NP_060051 Q9UGM1 ACHA9_HUMAN cholinergic receptor, nicotinic, alpha 9 84 Extracellular (Potential). elevation of cytosolic calcium ion concentration|synaptic transmission cell junction|postsynaptic membrane calcium channel activity|receptor activity breast(3)|skin(3)|central_nervous_system(1) 7 Nicotine(DB00184) TTGTGGATCCGCCAAATCTGG 0.483 16 32 --- --- --- --- PASS KCTD8 386617 broad.mit.edu 37 4 44176896 44176896 + Missense_Mutation SNP G T T TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr4:44176896G>T uc003gwu.2 - 2 1617 c.1333C>A c.(1333-1335)CAG>AAG p.Q445K NM_198353 NP_938167 Q6ZWB6 KCTD8_HUMAN potassium channel tetramerisation domain 445 cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex voltage-gated potassium channel activity central_nervous_system(2)|ovary(1) 3 TTAAAATCCTGAATACACTTT 0.388 HNSCC(17;0.042) 147 122 --- --- --- --- PASS KIT 3815 broad.mit.edu 37 4 55593614 55593614 + Silent SNP T A A TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr4:55593614T>A uc010igr.2 + 11 1767 c.1680T>A c.(1678-1680)GTT>GTA p.V560V KIT_uc010igs.2_Silent_p.V556V|KIT_uc010igt.1_Silent_p.V9V NM_000222 NP_000213 P10721 KIT_HUMAN v-kit Hardy-Zuckerman 4 feline sarcoma viral 560 Cytoplasmic (Potential). Missing (in GIST; somatic mutation). 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 p.V560D(113)|p.V560del(44)|p.W557_E561del(36)|p.V560G(23)|p.V560_L576del(22)|p.V560E(18)|p.K558_E562del(16)|p.V559_E561del(15)|p.K558_V560del(13)|p.K558_V560>N(12)|p.V559_G565del(11)|p.W557_V560>C(11)|p.K558_G565>R(11)|p.Q556_V560del(10)|p.V559_V560del(9)|p.K558_D572del(9)|p.V559_T574del(6)|p.W557_Q575del(6)|p.Q556_V560>H(6)|p.K558_I563del(5)|p.Q556_D572del(5)|p.K558_V560>I(5)|p.W557_V560>F(4)|p.V555_P573del(4)|p.V555_I571del(4)|p.W557_V560del(4)|p.M552_D572del(4)|p.V555_V560del(4)|p.V560_I571del(3)|p.Q556_D572>H(3)|p.Y553_T574>S(3)|p.V560_E561del(3)|p.E554_D572>A(3)|p.Q556_L576del(3)|p.W557_E562del(3)|p.V555_D572del(3)|p.Q556_T574del(3)|p.K558_E561del(3)|p.Y553_E561>LK(2)|p.M552_E561>K(2)|p.V559_D572del(2)|p.W557_P573>S(2)|p.W557_T574del(2)|p.P551_V569del(2)|p.V560_Y578del(2)|p.V560A(2)|p.Y553_E561del(2)|p.Q556_N564>R(2)|p.V555_E562del(2)|p.V555_Q575del(2)|p.W557_D572del(2)|p.W557_N564del(2)|p.V559_E562del(2)|p.K558_N564del(2)|p.W557_I571del(2)|p.K558_Y570>N(2)|p.V559_N566>D(2)|p.Q556_N564>H(2)|p.K558_Q575del(1)|p.V555_Y570del(1)|p.M552_T574>TESA(1)|p.Q556_D572>PS(1)|p.Q556_I563del(1)|p.W557_I563>FP(1)|p.M552_V560del(1)|p.K558_N564>R(1)|p.K558_E561>NP(1)|p.V559_P573>A(1)|p.K558_D572>N(1)|p.E554_N564>D(1)|p.V559_L576del(1)|p.P551_E561>Q(1)|p.Y553_P573del(1)|p.K550_V560>L(1)|p.V555_V560>H(1)|p.W557_T575>CP(1)|p.E554_Y570del(1)|p.E554_E561del(1)|p.Q556_N566>SNNLQLY(1)|p.E554_I571del(1)|p.V560_Y568del(1)|p.V555_V560>T(1)|p.V555_V560>V(1)|p.W557_E561>PS(1)|p.Q556_L576>H(1)|p.K558_G565>A(1)|p.Q556_P573del(1)|p.K558_L576>NV(1)|p.E554_E562del(1)|p.Q556_V560>TTF(1)|p.K558_V560>R(1)|p.W557_I563>T(1)|p.K558_T574>NRS(1)|p.V559_I571del(1)|p.E554_D572del(1)|p.W557_Y570del(1)|p.V560V(1)|p.P551_V569>L(1)|p.K558_P573del(1)|p.Q556_N564del(1)|p.E554_V560>K(1)|p.E554_V560>D(1)|p.V559_S590del(1)|p.V555_N566>D(1)|p.V559_N564del(1)|p.Q556_V560>HNLQLY(1)|p.K558_L576del(1)|p.Y553_L576>NCLHLYSSQ(1)|p.K558_V560>M(1)|p.E561del(1)|p.V555_I563del(1)|p.M552_Y570del(1)|p.K558_P573>R(1)|p.V555_G565del(1)|p.V560_N566del(1)|p.K558_G565del(1)|p.Q556_V560>F(1)|p.M552_I563del(1)|p.Q556_E561del(1)|p.V560_D572del(1)|p.V555_N564del(1)|p.Q556_E561>HH(1)|p.K550_Y568del(1)|p.E554_N564del(1)|p.V559_V569del(1)|p.Q556_E561>P(1) 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) GGAAGGTTGTTGAGGAGATAA 0.388 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 24 122 --- --- --- --- PASS WDFY3 23001 broad.mit.edu 37 4 85750301 85750301 + Nonsense_Mutation SNP G C C TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr4:85750301G>C uc003hpd.2 - 9 1220 c.812C>G c.(811-813)TCA>TGA p.S271* WDFY3_uc003hpf.2_Nonsense_Mutation_p.S271* NM_014991 NP_055806 Q8IZQ1 WDFY3_HUMAN WD repeat and FYVE domain containing 3 isoform 271 cytoplasmic part|extrinsic to membrane|nuclear envelope 1-phosphatidylinositol binding|metal ion binding|protein binding ovary(2)|central_nervous_system(1) 3 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000808) CAGGTCATCTGATTGCTGCAT 0.348 63 98 --- --- --- --- PASS IBSP 3381 broad.mit.edu 37 4 88731824 88731824 + Missense_Mutation SNP A G G TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr4:88731824A>G uc003hqx.3 + 6 411 c.313A>G c.(313-315)ACC>GCC p.T105A NM_004967 NP_004958 P21815 SIAL_HUMAN integrin-binding sialoprotein precursor 105 Asp/Glu-rich (acidic). biomineral tissue development|cell adhesion|ossification 0 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000333)|COAD - Colon adenocarcinoma(81;0.154) GGCTGAGAATACCACACTTTC 0.413 28 150 --- --- --- --- PASS HERC6 55008 broad.mit.edu 37 4 89363384 89363384 + Splice_Site SNP A G G TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr4:89363384A>G uc011cdi.1 + 23 3026 c.2843_splice c.e23-2 p.F948_splice HERC6_uc011cdj.1_Splice_Site_p.F912_splice|HERC6_uc011cdk.1_Splice_Site|HERC6_uc011cdl.1_Splice_Site NM_017912 NP_060382 Q8IVU3 HERC6_HUMAN hect domain and RLD 6 isoform 1 protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytosol ubiquitin-protein ligase activity lung(3)|ovary(1)|kidney(1) 5 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000222) ATTCCTTTCTAGTTTTCCTTA 0.294 11 14 --- --- --- --- PASS HERC3 8916 broad.mit.edu 37 4 89591092 89591092 + Missense_Mutation SNP G A A TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr4:89591092G>A uc003hrw.1 + 15 1881 c.1715G>A c.(1714-1716)AGG>AAG p.R572K HERC3_uc011cdn.1_Missense_Mutation_p.R454K|HERC3_uc011cdo.1_Missense_Mutation_p.R16K NM_014606 NP_055421 Q15034 HERC3_HUMAN hect domain and RLD 3 572 protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasmic membrane-bounded vesicle ubiquitin-protein ligase activity lung(2)|prostate(1)|skin(1) 4 OV - Ovarian serous cystadenocarcinoma(123;0.000319) TATCTACTGAGGGGAAGAAAG 0.388 85 86 --- --- --- --- PASS DAPP1 27071 broad.mit.edu 37 4 100774445 100774445 + Silent SNP G C C TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr4:100774445G>C uc003hvf.3 + 4 519 c.429G>C c.(427-429)CGG>CGC p.R143R DAPP1_uc011cek.1_Intron|DAPP1_uc010ilh.2_Silent_p.R143R NM_014395 NP_055210 Q9UN19 DAPP1_HUMAN dual adaptor of phosphotyrosine and 143 signal transduction cytoplasm|plasma membrane phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|protein tyrosine phosphatase activity 0 OV - Ovarian serous cystadenocarcinoma(123;7.04e-09) AATCTGTCCGGGTTCACACAG 0.448 13 26 --- --- --- --- PASS GSTCD 79807 broad.mit.edu 37 4 106647744 106647744 + Silent SNP C A A TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr4:106647744C>A uc003hxz.3 + 4 975 c.903C>A c.(901-903)ATC>ATA p.I301I GSTCD_uc003hxx.2_Silent_p.I301I|GSTCD_uc003hxy.3_Silent_p.I214I|GSTCD_uc011cfb.1_5'UTR|GSTCD_uc010ils.1_Silent_p.I301I NM_001031720 NP_001026890 Q8NEC7 GSTCD_HUMAN glutathione S-transferase, C-terminal domain 301 GST C-terminal. cytoplasm rRNA methyltransferase activity breast(1)|central_nervous_system(1) 2 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;3.15e-07)|READ - Rectum adenocarcinoma(30;0.139) AGGTAATTATCAGCAGGAAAT 0.264 5 12 --- --- --- --- PASS ENPEP 2028 broad.mit.edu 37 4 111398008 111398008 + Missense_Mutation SNP G C C TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr4:111398008G>C uc003iab.3 + 1 780 c.438G>C c.(436-438)GAG>GAC p.E146D NM_001977 NP_001968 Q07075 AMPE_HUMAN glutamyl aminopeptidase 146 Extracellular (Potential). cell migration|cell proliferation|cell-cell signaling|proteolysis integral to plasma membrane aminopeptidase activity|metalloexopeptidase activity|zinc ion binding skin(3)|ovary(1)|breast(1) 5 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.0031) L-Glutamic Acid(DB00142) GGCTCCCGGAGCTGAAGAGGC 0.627 36 205 --- --- --- --- PASS MIR1243 100302188 broad.mit.edu 37 4 114028085 114028085 + RNA SNP G T T TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr4:114028085G>T hsa-mir-1243|MI0006373 + c.67G>T ANK2_uc003ibd.3_Intron|ANK2_uc003ibe.3_Intron|ANK2_uc003ibf.3_Intron|ANK2_uc003ibc.2_Intron|ANK2_uc011cgb.1_Intron 0 ACTTTGCTTTGGTAATAAATC 0.338 16 62 --- --- --- --- PASS ANK2 287 broad.mit.edu 37 4 114279820 114279820 + Missense_Mutation SNP C T T TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr4:114279820C>T uc003ibe.3 + 38 10146 c.10046C>T c.(10045-10047)CCT>CTT p.P3349L ANK2_uc003ibd.3_Intron|ANK2_uc003ibf.3_Intron|ANK2_uc011cgc.1_Intron|ANK2_uc003ibg.3_Intron|ANK2_uc003ibh.3_Intron|ANK2_uc011cgd.1_Missense_Mutation_p.P651L|ANK2_uc011cgb.1_Missense_Mutation_p.P3364L NM_001148 NP_001139 Q01484 ANK2_HUMAN ankyrin 2 isoform 1 3316 axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding|protein binding central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1) 14 Ovarian(17;0.0448)|Hepatocellular(203;0.218) OV - Ovarian serous cystadenocarcinoma(123;4.92e-05) TCCAAACTCCCTGTCAAAGTA 0.473 44 159 --- --- --- --- PASS NDST4 64579 broad.mit.edu 37 4 115749013 115749013 + Missense_Mutation SNP G T T TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr4:115749013G>T uc003ibu.2 - 14 3257 c.2578C>A c.(2578-2580)CTG>ATG p.L860M NDST4_uc010imw.2_RNA NM_022569 NP_072091 Q9H3R1 NDST4_HUMAN heparan sulfate N-deacetylase/N-sulfotransferase 860 Lumenal (Potential).|Heparan sulfate N-sulfotransferase 4. Golgi membrane|integral to membrane [heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity skin(3)|ovary(1) 4 Ovarian(17;0.156) OV - Ovarian serous cystadenocarcinoma(123;0.000562) CACGATGGCAGAGGCTGTCCC 0.403 25 82 --- --- --- --- PASS CCNA2 890 broad.mit.edu 37 4 122744726 122744726 + Missense_Mutation SNP C G G TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr4:122744726C>G uc003iec.3 - 1 363 c.58G>C c.(58-60)GCA>CCA p.A20P NM_001237 NP_001228 P20248 CCNA2_HUMAN cyclin A 20 cell division|mitosis|mitotic cell cycle G2/M transition DNA damage checkpoint|Ras protein signal transduction|regulation of cyclin-dependent protein kinase activity cytoplasm|nucleoplasm protein kinase binding ovary(1) 1 TGCTGCAATGCTAGCAGCGCC 0.697 4 17 --- --- --- --- PASS RXFP1 59350 broad.mit.edu 37 4 159573058 159573058 + Missense_Mutation SNP G T T TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr4:159573058G>T uc003ipz.2 + 18 2207 c.2125G>T c.(2125-2127)GGT>TGT p.G709C RXFP1_uc011cja.1_Missense_Mutation_p.G604C|RXFP1_uc010iqo.2_Missense_Mutation_p.G661C|RXFP1_uc011cjb.1_Missense_Mutation_p.G607C|RXFP1_uc010iqk.2_Missense_Mutation_p.G577C|RXFP1_uc011cjc.1_Missense_Mutation_p.G628C|RXFP1_uc011cjd.1_Missense_Mutation_p.G628C|RXFP1_uc010iql.2_Missense_Mutation_p.G553C|RXFP1_uc011cje.1_Missense_Mutation_p.G736C|RXFP1_uc010iqm.2_Missense_Mutation_p.G676C|RXFP1_uc011cjf.1_Missense_Mutation_p.G578C|RXFP1_uc010iqn.2_Missense_Mutation_p.G654C NM_021634 NP_067647 Q9HBX9 RXFP1_HUMAN relaxin/insulin-like family peptide receptor 1 709 Cytoplasmic (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity|metal ion binding 0 all_hematologic(180;0.24) Renal(120;0.0854) COAD - Colon adenocarcinoma(41;0.0219) GGACAGCAAAGGTCAGAAAAC 0.418 22 138 --- --- --- --- PASS NAF1 92345 broad.mit.edu 37 4 164050062 164050062 + Missense_Mutation SNP C T T TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr4:164050062C>T uc003iqj.2 - 8 1666 c.1472G>A c.(1471-1473)GGA>GAA p.G491E NAF1_uc010iqw.1_Intron NM_138386 NP_612395 Q96HR8 NAF1_HUMAN nuclear assembly factor 1 homolog isoform a 491 rRNA processing|snRNA pseudouridine synthesis cytoplasm|nucleus|small nucleolar ribonucleoprotein complex protein binding|snoRNA binding ovary(2) 2 all_hematologic(180;0.166) Prostate(90;0.109) ATAGTAAGGTCCAAAATGAGA 0.254 8 45 --- --- --- --- PASS KIAA1430 57587 broad.mit.edu 37 4 186085284 186085284 + Missense_Mutation SNP C A A TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr4:186085284C>A uc003ixf.3 - 4 1517 c.1370G>T c.(1369-1371)CGT>CTT p.R457L NM_020827 NP_065878 Q9P2B7 K1430_HUMAN hypothetical protein LOC57587 457 0 all_lung(41;1.19e-13)|Lung NSC(41;3.16e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00872)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243) all cancers(43;9.44e-26)|Epithelial(43;2.64e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.66e-11)|Colorectal(24;6.03e-05)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.000331)|COAD - Colon adenocarcinoma(29;0.000427)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00924)|READ - Rectum adenocarcinoma(43;0.165) TTGTTCTGAACGTTTCATACC 0.403 24 74 --- --- --- --- PASS ZFP42 132625 broad.mit.edu 37 4 188924142 188924142 + Missense_Mutation SNP C G G TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr4:188924142C>G uc003izg.1 + 3 426 c.181C>G c.(181-183)CAG>GAG p.Q61E ZFP42_uc003izh.1_Missense_Mutation_p.Q61E|ZFP42_uc003izi.1_Missense_Mutation_p.Q61E NM_174900 NP_777560 Q96MM3 ZFP42_HUMAN zinc finger protein 42 61 female gonad development|male gonad development|meiosis cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|skin(1) 2 all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227) OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157) GCCTGGCCCTCAGGCTCTCGG 0.522 3 127 --- --- --- --- PASS KIAA0947 23379 broad.mit.edu 37 5 5462573 5462573 + Silent SNP A G G TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr5:5462573A>G uc003jdm.3 + 13 3348 c.3126A>G c.(3124-3126)CCA>CCG p.P1042P NM_015325 NP_056140 Q9Y2F5 K0947_HUMAN hypothetical protein LOC23379 1042 ovary(1)|central_nervous_system(1) 2 CCAGCACACCACAAAATGCTA 0.468 89 241 --- --- --- --- PASS FASTKD3 79072 broad.mit.edu 37 5 7868063 7868063 + Missense_Mutation SNP A G G TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr5:7868063A>G uc003jeb.2 - 2 271 c.134T>C c.(133-135)TTG>TCG p.L45S 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 45 apoptosis|cellular respiration mitochondrion ATP binding|protein kinase activity ovary(2)|breast(1)|pancreas(1) 4 TCGTGAACACAACCAAGGGCA 0.423 27 169 --- --- --- --- PASS MARCH6 10299 broad.mit.edu 37 5 10390501 10390501 + Silent SNP T C C TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr5:10390501T>C uc003jet.1 + 6 648 c.465T>C c.(463-465)TGT>TGC p.C155C MARCH6_uc011cmu.1_Silent_p.C107C|MARCH6_uc003jeu.1_5'UTR|MARCH6_uc011cmv.1_Silent_p.C50C NM_005885 NP_005876 O60337 MARH6_HUMAN membrane-associated ring finger (C3HC4) 6 155 Helical; (Potential). protein K48-linked ubiquitination integral to endoplasmic reticulum membrane ubiquitin conjugating enzyme binding|ubiquitin-protein ligase activity|zinc ion binding ovary(1)|breast(1) 2 GCACACTGTGTGCATTCATCA 0.458 35 336 --- --- --- --- PASS CDH10 1008 broad.mit.edu 37 5 24535829 24535829 + Missense_Mutation SNP G C C TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr5:24535829G>C uc003jgr.1 - 4 961 c.629C>G c.(628-630)TCT>TGT p.S210C CDH10_uc011cnu.1_RNA NM_006727 NP_006718 Q9Y6N8 CAD10_HUMAN cadherin 10, type 2 preproprotein 210 Cadherin 2.|Extracellular (Potential). adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(6)|pancreas(4)|breast(2) 12 STAD - Stomach adenocarcinoma(35;0.0556) AGGCTCCACAGAGAAATAGGG 0.438 HNSCC(23;0.051) 15 132 --- --- --- --- PASS ZFR 51663 broad.mit.edu 37 5 32390503 32390503 + Missense_Mutation SNP C G G TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr5:32390503C>G uc003jhr.1 - 12 2100 c.2020G>C c.(2020-2022)GAA>CAA p.E674Q ZFR_uc011cny.1_5'Flank NM_016107 NP_057191 Q96KR1 ZFR_HUMAN zinc finger RNA binding protein 674 multicellular organismal development chromosome|cytoplasm|nucleus DNA binding|RNA binding|zinc ion binding 0 STAD - Stomach adenocarcinoma(35;0.19) TGATGTTGTTCTTCCTCCATT 0.478 50 157 --- --- --- --- PASS UGT3A1 133688 broad.mit.edu 37 5 35954348 35954348 + Missense_Mutation SNP C T T TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr5:35954348C>T uc003jjv.1 - 7 1685 c.1528G>A c.(1528-1530)GTG>ATG p.V510M UGT3A1_uc003jjw.1_RNA NM_152404 NP_689617 Q6NUS8 UD3A1_HUMAN UDP glycosyltransferase 3 family, polypeptide A1 510 Cytoplasmic (Potential). integral to membrane glucuronosyltransferase activity ovary(2)|central_nervous_system(1) 3 all_lung(31;0.000197) Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) CACCTGGCCACCACACCCAGC 0.582 21 47 --- --- --- --- PASS LIFR 3977 broad.mit.edu 37 5 38496550 38496550 + Missense_Mutation SNP C T T TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr5:38496550C>T uc010ive.1 - 13 2151 c.1819G>A c.(1819-1821)GTA>ATA p.V607I LIFR_uc003jli.2_Missense_Mutation_p.V607I NM_001127671 NP_001121143 P42702 LIFR_HUMAN leukemia inhibitory factor receptor precursor 607 Extracellular (Potential).|Fibronectin type-III 4. positive regulation of cell proliferation extracellular region|integral to plasma membrane ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity ovary(3)|large_intestine(1) 4 all_lung(31;0.00021) TTAGCCACTACGCTGATGATG 0.413 T PLAG1 salivary adenoma 64 241 --- --- --- --- PASS C7 730 broad.mit.edu 37 5 40945391 40945391 + Missense_Mutation SNP G T T TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr5:40945391G>T uc003jmh.2 + 7 773 c.659G>T c.(658-660)CGG>CTG p.R220L C7_uc011cpn.1_Intron NM_000587 NP_000578 P10643 CO7_HUMAN complement component 7 precursor 220 MACPF. R -> Q (in C7D). complement activation, alternative pathway|complement activation, classical pathway|cytolysis extracellular region|membrane attack complex 0 Ovarian(839;0.0112) TCATCTAGTCGGAAGCGCTCC 0.313 13 38 --- --- --- --- PASS C6 729 broad.mit.edu 37 5 41153960 41153960 + Missense_Mutation SNP C G G TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr5:41153960C>G uc003jmk.2 - 15 2452 c.2242G>C c.(2242-2244)GGG>CGG p.G748R C6_uc003jml.1_Missense_Mutation_p.G748R NM_000065 NP_000056 P13671 CO6_HUMAN complement component 6 precursor 748 C5b-binding domain.|Sushi 2. complement activation, classical pathway|cytolysis|innate immune response membrane attack complex protein binding ovary(3)|central_nervous_system(2)|skin(2) 7 Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157) CAGGAATTCCCCTGGCATGTG 0.468 43 134 --- --- --- --- PASS ITGA2 3673 broad.mit.edu 37 5 52340858 52340858 + Missense_Mutation SNP A T T TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr5:52340858A>T uc003joy.2 + 4 466 c.323A>T c.(322-324)GAG>GTG p.E108V ITGA2_uc011cqa.1_RNA|ITGA2_uc011cqb.1_RNA|ITGA2_uc011cqc.1_Missense_Mutation_p.E32V|ITGA2_uc011cqd.1_RNA|ITGA2_uc011cqe.1_RNA NM_002203 NP_002194 P17301 ITA2_HUMAN integrin alpha 2 precursor 108 Extracellular (Potential).|FG-GAP 2. axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis integrin complex collagen binding|identical protein binding|receptor activity lung(1) 1 Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181) AATGTTACTGAGATGAAAACC 0.348 25 72 --- --- --- --- PASS GPR98 84059 broad.mit.edu 37 5 90055301 90055301 + Missense_Mutation SNP A T T TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr5:90055301A>T uc003kju.2 + 58 12112 c.12016A>T c.(12016-12018)ATC>TTC p.I4006F GPR98_uc003kjt.2_Missense_Mutation_p.I1712F|GPR98_uc003kjv.2_Missense_Mutation_p.I1606F NM_032119 NP_115495 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 precursor 4006 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) TATTTCCTTGATCAGTGTTGC 0.328 4 19 --- --- --- --- PASS ADAMTS19 171019 broad.mit.edu 37 5 129019847 129019847 + Missense_Mutation SNP A T T TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr5:129019847A>T uc003kvb.1 + 18 2681 c.2681A>T c.(2680-2682)CAC>CTC p.H894L ADAMTS19_uc010jdh.1_RNA NM_133638 NP_598377 Q8TE59 ATS19_HUMAN ADAM metallopeptidase with thrombospondin type 1 894 Spacer. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(5)|breast(2)|lung(1)|skin(1) 9 all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) OV - Ovarian serous cystadenocarcinoma(64;0.222) TATGGTCTTCACTATGAATAC 0.438 24 140 --- --- --- --- PASS P4HA2 8974 broad.mit.edu 37 5 131531134 131531134 + Missense_Mutation SNP C G G TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr5:131531134C>G uc003kwh.2 - 13 1975 c.1411G>C c.(1411-1413)GAT>CAT p.D471H P4HA2_uc003kwg.2_Missense_Mutation_p.D469H|P4HA2_uc003kwi.2_Missense_Mutation_p.D469H|P4HA2_uc003kwk.2_Missense_Mutation_p.D469H|P4HA2_uc003kwl.2_Missense_Mutation_p.D471H|P4HA2_uc003kwj.2_Missense_Mutation_p.D469H NM_004199 NP_004190 O15460 P4HA2_HUMAN prolyl 4-hydroxylase, alpha II subunit isoform 1 471 Fe2OG dioxygenase. endoplasmic reticulum lumen electron carrier activity|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|protein binding 0 all_cancers(142;0.103)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) L-Proline(DB00172)|Succinic acid(DB00139) GCCCCCAGATCAGGGAAGACG 0.493 8 75 --- --- --- --- PASS SEPT8 23176 broad.mit.edu 37 5 132096546 132096546 + Missense_Mutation SNP C A A TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr5:132096546C>A uc003kxr.2 - 9 1472 c.1234G>T c.(1234-1236)GCC>TCC p.A412S SEPT8_uc003kxs.1_Missense_Mutation_p.A412S|SEPT8_uc003kxu.2_Missense_Mutation_p.A412S|SEPT8_uc011cxi.1_Missense_Mutation_p.A410S|SEPT8_uc003kxv.2_Missense_Mutation_p.A410S|SEPT8_uc003kxt.2_Missense_Mutation_p.A352S NM_001098811 NP_001092281 Q92599 SEPT8_HUMAN septin 8 isoform a 412 Potential. cell cycle septin complex GTP binding|protein binding ovary(2) 2 all_cancers(142;0.0751)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) GCGTGCAAGGCCTGCGACTGC 0.647 10 172 --- --- --- --- PASS PCDHB8 56128 broad.mit.edu 37 5 140558302 140558302 + Silent SNP C A A TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr5:140558302C>A uc011dai.1 + 1 873 c.687C>A c.(685-687)GTC>GTA p.V229V PCDHB16_uc003liv.2_5'Flank NM_019120 NP_061993 Q9UN66 PCDB8_HUMAN protocadherin beta 8 precursor 229 Cadherin 2.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding skin(4) 4 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CTGCTCAGGTCTACATTGAAG 0.512 19 305 --- --- --- --- PASS PCDHB12 56124 broad.mit.edu 37 5 140590088 140590088 + Missense_Mutation SNP G A A TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr5:140590088G>A uc003liz.2 + 1 1798 c.1609G>A c.(1609-1611)GGC>AGC p.G537S PCDHB12_uc011dak.1_Missense_Mutation_p.G200S NM_018932 NP_061755 Q9Y5F1 PCDBC_HUMAN protocadherin beta 12 precursor 537 Extracellular (Potential).|Cadherin 5. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding skin(2)|ovary(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CACAGACCACGGCTCCCCGGC 0.677 22 60 --- --- --- --- PASS PCDHGA3 56112 broad.mit.edu 37 5 140724442 140724442 + Missense_Mutation SNP T C C TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr5:140724442T>C uc003ljm.1 + 1 842 c.842T>C c.(841-843)CTA>CCA p.L281P PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc010jfx.1_Missense_Mutation_p.L41P|PCDHGA3_uc011dap.1_Missense_Mutation_p.L281P NM_018916 NP_061739 Q9Y5H0 PCDG3_HUMAN protocadherin gamma subfamily A, 3 isoform 1 281 Cadherin 3.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCTTATATTCTAGATAAAATG 0.448 4 53 --- --- --- --- PASS PCDHGA4 56111 broad.mit.edu 37 5 140734863 140734863 + Silent SNP C A A TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr5:140734863C>A uc003ljq.1 + 1 96 c.96C>A c.(94-96)CTC>CTA p.L32L PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljp.1_Silent_p.L32L NM_018917 NP_061740 Q9Y5G9 PCDG4_HUMAN protocadherin gamma subfamily A, 4 isoform 1 32 Cadherin 1.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AACAGATTCTCTACTCGGTGT 0.637 36 46 --- --- --- --- PASS POU4F3 5459 broad.mit.edu 37 5 145719834 145719834 + Missense_Mutation SNP G A A TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr5:145719834G>A uc003loa.2 + 2 933 c.844G>A c.(844-846)GCG>ACG p.A282T NM_002700 NP_002691 Q15319 PO4F3_HUMAN POU class 4 homeobox 3 282 Homeobox. sensory perception of sound|visual perception nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) CACGTCCATCGCGGCGCCGGA 0.592 9 41 --- --- --- --- PASS FAT2 2196 broad.mit.edu 37 5 150925891 150925891 + Silent SNP G A A rs148379892 TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr5:150925891G>A uc003lue.3 - 9 4810 c.4797C>T c.(4795-4797)AGC>AGT p.S1599S GM2A_uc011dcs.1_Intron NM_001447 NP_001438 Q9NYQ8 FAT2_HUMAN FAT tumor suppressor 2 precursor 1599 Extracellular (Potential).|Cadherin 14. epithelial cell migration|homophilic cell adhesion cell-cell adherens junction|integral to membrane|nucleus calcium ion binding ovary(4)|upper_aerodigestive_tract(1)|skin(1) 6 Medulloblastoma(196;0.0912)|all_hematologic(541;0.104) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) AGAAACCTTCGCTGTTCCCTG 0.458 10 51 --- --- --- --- PASS FAT2 2196 broad.mit.edu 37 5 150929057 150929057 + Nonsense_Mutation SNP G A A TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr5:150929057G>A uc003lue.3 - 8 4601 c.4588C>T c.(4588-4590)CAG>TAG p.Q1530* GM2A_uc011dcs.1_Intron NM_001447 NP_001438 Q9NYQ8 FAT2_HUMAN FAT tumor suppressor 2 precursor 1530 Extracellular (Potential).|Cadherin 13. epithelial cell migration|homophilic cell adhesion cell-cell adherens junction|integral to membrane|nucleus calcium ion binding ovary(4)|upper_aerodigestive_tract(1)|skin(1) 6 Medulloblastoma(196;0.0912)|all_hematologic(541;0.104) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) GGTATTTCCTGGTCTCGGACC 0.498 18 36 --- --- --- --- PASS EBF1 1879 broad.mit.edu 37 5 158141174 158141174 + Missense_Mutation SNP C A A TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr5:158141174C>A uc010jip.2 - 12 1444 c.1142G>T c.(1141-1143)AGG>ATG p.R381M EBF1_uc011ddw.1_Missense_Mutation_p.R249M|EBF1_uc011ddx.1_Missense_Mutation_p.R382M|EBF1_uc003lxl.3_Missense_Mutation_p.R350M NM_024007 NP_076870 Q9UH73 COE1_HUMAN early B-cell factor 381 multicellular organismal development nucleus DNA binding|metal ion binding HMGA2/EBF1(2) soft_tissue(2)|ovary(1)|central_nervous_system(1)|pancreas(1) 5 Renal(175;0.00196) Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) ATCCGCAGCCCTTTTGAGTAT 0.473 T HMGA2 lipoma 23 209 --- --- --- --- PASS CCNJL 79616 broad.mit.edu 37 5 159680579 159680579 + Missense_Mutation SNP C G G TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr5:159680579C>G uc003lyb.1 - 7 1366 c.1114G>C c.(1114-1116)GGG>CGG p.G372R CCNJL_uc011dee.1_Missense_Mutation_p.G324R|CCNJL_uc003lyc.1_RNA NM_024565 NP_078841 Q8IV13 CCNJL_HUMAN cyclin J-like 372 nucleus 0 Renal(175;0.00196) Medulloblastoma(196;0.0354)|all_neural(177;0.116) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) CCTGTACTCCCCGAGAGCAGG 0.632 16 66 --- --- --- --- PASS GABRB2 2561 broad.mit.edu 37 5 160837994 160837994 + Missense_Mutation SNP C A A TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr5:160837994C>A uc003lys.1 - 6 746 c.528G>T c.(526-528)TTG>TTT p.L176F GABRB2_uc011deh.1_Missense_Mutation_p.L15F|GABRB2_uc003lyr.1_Missense_Mutation_p.L176F|GABRB2_uc003lyt.1_Missense_Mutation_p.L176F|GABRB2_uc010jiu.1_Missense_Mutation_p.L113F NM_021911 NP_068711 P47870 GBRB2_HUMAN gamma-aminobutyric acid (GABA) A receptor, beta 176 Extracellular (Probable). gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|GABA-A receptor activity 0 Renal(175;0.00259) Medulloblastoma(196;0.021)|all_neural(177;0.0463) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683) TCTCAATTTCCAAGGTGCAGT 0.478 10 110 --- --- --- --- PASS FLT4 2324 broad.mit.edu 37 5 180043372 180043372 + Missense_Mutation SNP C T T TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr5:180043372C>T uc003mma.3 - 23 3293 c.3214G>A c.(3214-3216)GGC>AGC p.G1072S FLT4_uc003mlz.3_Missense_Mutation_p.G1072S NM_002020 NP_002011 P35916 VGFR3_HUMAN fms-related tyrosine kinase 4 isoform 2 1072 Cytoplasmic (Potential).|Protein kinase. positive regulation of cell proliferation integral to plasma membrane ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity lung(7)|skin(2)|ovary(2)|stomach(1)|central_nervous_system(1)|breast(1)|kidney(1) 15 all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114) all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.134) Sorafenib(DB00398)|Sunitinib(DB01268) CTCACACTGCCCTTGCGGACG 0.607 Congenital_Hereditary_Lymphedema 21 43 --- --- --- --- PASS FLT4 2324 broad.mit.edu 37 5 180056733 180056733 + Nonsense_Mutation SNP G C C TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr5:180056733G>C uc003mma.3 - 6 858 c.779C>G c.(778-780)TCA>TGA p.S260* FLT4_uc003mlz.3_Nonsense_Mutation_p.S260*|FLT4_uc003mmb.1_5'Flank|FLT4_uc011dgy.1_Nonsense_Mutation_p.S260*|FLT4_uc011dgz.1_Nonsense_Mutation_p.S260*|FLT4_uc011dha.1_3'UTR NM_002020 NP_002011 P35916 VGFR3_HUMAN fms-related tyrosine kinase 4 isoform 2 260 Ig-like C2-type 3.|Extracellular (Potential). positive regulation of cell proliferation integral to plasma membrane ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity lung(7)|skin(2)|ovary(2)|stomach(1)|central_nervous_system(1)|breast(1)|kidney(1) 15 all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114) all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.134) Sorafenib(DB00398)|Sunitinib(DB01268) GGTGACACCTGAGTTAAACTC 0.587 Congenital_Hereditary_Lymphedema 5 18 --- --- --- --- PASS BTNL9 153579 broad.mit.edu 37 5 180474980 180474980 + Missense_Mutation SNP G A A TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr5:180474980G>A uc003mmt.2 + 3 394 c.163G>A c.(163-165)GTG>ATG p.V55M BTNL9_uc011dhi.1_Translation_Start_Site NM_152547 NP_689760 Q6UXG8 BTNL9_HUMAN butyrophilin-like 9 precursor 55 Extracellular (Potential).|Ig-like V-type. integral to membrane ovary(1)|central_nervous_system(1) 2 all_cancers(89;2.45e-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) CGGGGAGGAGGTGGAGTTCCC 0.557 20 37 --- --- --- --- PASS HUS1B 135458 broad.mit.edu 37 6 656563 656563 + Missense_Mutation SNP C A A TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr6:656563C>A uc003mtg.2 - 1 402 c.382G>T c.(382-384)GTG>TTG p.V128L EXOC2_uc003mtd.2_Intron|EXOC2_uc003mte.2_Intron|EXOC2_uc011dho.1_Intron NM_148959 NP_683762 Q8NHY5 HUS1B_HUMAN HUS1 checkpoint protein B 128 0 Ovarian(93;0.0733) Breast(5;0.00139)|all_lung(73;0.0691)|all_hematologic(90;0.0895) OV - Ovarian serous cystadenocarcinoma(45;0.041)|BRCA - Breast invasive adenocarcinoma(62;0.0965) TCGTGCACCACGCTGCGAGCG 0.741 6 30 --- --- --- --- PASS PECI 10455 broad.mit.edu 37 6 4131009 4131009 + Silent SNP G A A TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr6:4131009G>A uc003mwf.2 - 3 341 c.304C>T c.(304-306)CTG>TTG p.L102L PECI_uc003mwc.2_5'UTR|PECI_uc003mwd.2_Silent_p.L72L|PECI_uc003mwe.2_5'UTR|PECI_uc010jnr.1_RNA NM_206836 NP_996667 O75521 ECI2_HUMAN peroxisomal D3,D2-enoyl-CoA isomerase isoform 2 102 ACB. fatty acid metabolic process mitochondrion|peroxisomal matrix dodecenoyl-CoA delta-isomerase activity|fatty-acyl-CoA binding 0 Ovarian(93;0.0925) all_hematologic(90;0.0895) ACCTTGGGCAGGCTGCCAAGG 0.438 30 173 --- --- --- --- PASS GMPR 2766 broad.mit.edu 37 6 16290709 16290709 + Silent SNP T C C TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr6:16290709T>C uc003nbs.2 + 8 828 c.714T>C c.(712-714)TTT>TTC p.F238F NM_006877 NP_006868 P36959 GMPR1_HUMAN guanosine monophosphate reductase 238 nucleotide metabolic process|purine base metabolic process|purine-containing compound salvage|response to cold cytosol GMP reductase activity|metal ion binding ovary(1) 1 Breast(50;0.0427)|Ovarian(93;0.103) all_hematologic(90;0.0895) GAGCAGATTTTGTCATGCTGG 0.512 231 322 --- --- --- --- PASS HIST1H2AM 8336 broad.mit.edu 37 6 27860915 27860915 + Missense_Mutation SNP C T T TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr6:27860915C>T uc003nkb.1 - 1 49 c.13G>A c.(13-15)GGC>AGC p.G5S HIST1H3J_uc003nka.2_5'Flank|HIST1H2BO_uc003nkc.1_5'Flank NM_003514 NP_003505 P0C0S8 H2A1_HUMAN histone cluster 1, H2am 5 nucleosome assembly nucleosome|nucleus DNA binding|enzyme binding ovary(2) 2 CCCTGCTTGCCACGTCCAGAC 0.577 22 43 --- --- --- --- PASS HIST1H2BO 8348 broad.mit.edu 37 6 27861469 27861469 + Missense_Mutation SNP G A A TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr6:27861469G>A uc003nkc.1 + 1 267 c.229G>A c.(229-231)GAG>AAG p.E77K HIST1H3J_uc003nka.2_5'Flank|HIST1H2AM_uc003nkb.1_5'Flank NM_003527 NP_003518 P23527 H2B1O_HUMAN histone cluster 1, H2bo 77 nucleosome assembly nucleosome|nucleus DNA binding 0 CATCGCTGGCGAGGCTTCCCG 0.617 63 102 --- --- --- --- PASS ZKSCAN4 387032 broad.mit.edu 37 6 28213023 28213023 + Silent SNP A G G TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr6:28213023A>G uc003nks.1 - 5 1753 c.1509T>C c.(1507-1509)ATT>ATC p.I503I ZKSCAN4_uc011dlb.1_Silent_p.I348I NM_019110 NP_061983 Q969J2 ZKSC4_HUMAN zinc finger with KRAB and SCAN domains 4 503 C2H2-type 6. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1) 1 TCTGATGTTCAATAAGACTTC 0.433 78 110 --- --- --- --- PASS C6orf134 79969 broad.mit.edu 37 6 30610730 30610730 + Missense_Mutation SNP G A A TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr6:30610730G>A uc003nqu.2 + 10 960 c.910G>A c.(910-912)GCC>ACC p.A304T C6orf134_uc003nqr.3_Missense_Mutation_p.A304T|C6orf134_uc003rdc.2_Missense_Mutation_p.A304T|C6orf134_uc003nqs.3_Missense_Mutation_p.A281T|C6orf134_uc003rdd.2_Missense_Mutation_p.A281T|C6orf134_uc003nqt.2_Intron|C6orf134_uc011dmm.1_Missense_Mutation_p.A269T|C6orf134_uc003nqv.2_Missense_Mutation_p.A292T NM_024909 NP_079185 Q5SQI0 ATAT_HUMAN hypothetical protein LOC79969 isoform 2 304 tubulin N-acetyltransferase activity 0 ACACCCTACCGCCCGCCTTCT 0.622 29 208 --- --- --- --- PASS TNXB 7148 broad.mit.edu 37 6 32023670 32023670 + Nonsense_Mutation SNP C A A TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr6:32023670C>A uc003nzl.2 - 24 8627 c.8425G>T c.(8425-8427)GAG>TAG p.E2809* NM_019105 NP_061978 P22105 TENX_HUMAN tenascin XB isoform 1 precursor 2867 Fibronectin type-III 20. actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding 0 CGCCGCCCCTCGTGGAGGCCG 0.637 12 49 --- --- --- --- PASS ITPR3 3710 broad.mit.edu 37 6 33638469 33638469 + Silent SNP G T T TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr6:33638469G>T uc011drk.1 + 20 2682 c.2463G>T c.(2461-2463)GCG>GCT p.A821A NM_002224 NP_002215 Q14573 ITPR3_HUMAN inositol 1,4,5-triphosphate receptor, type 3 821 Cytoplasmic (Potential). activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding ovary(6)|lung(5)|central_nervous_system(5)|breast(2)|kidney(1) 19 ACCTCAACGCGTCCCGAGATG 0.587 30 115 --- --- --- --- PASS FANCE 2178 broad.mit.edu 37 6 35423605 35423605 + Silent SNP G T T TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr6:35423605G>T uc003oko.1 + 2 515 c.330G>T c.(328-330)CCG>CCT p.P110P FANCE_uc010jvw.1_Silent_p.P110P NM_021922 NP_068741 Q9HB96 FANCE_HUMAN Fanconi anemia, complementation group E 110 DNA repair nucleoplasm protein binding ovary(1)|lung(1)|skin(1) 3 CATCGCTGCCGGAAAGTGGGC 0.617 N|F|S AML|leukemia Involved_in_tolerance_or_repair_of_DNA_crosslinks Fanconi_Anemia 19 63 --- --- --- --- PASS DNAH8 1769 broad.mit.edu 37 6 38838312 38838312 + Missense_Mutation SNP C T T TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr6:38838312C>T uc003ooe.1 + 47 6913 c.6313C>T c.(6313-6315)CCA>TCA p.P2105S 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 GATTAACCATCCACCCTGGAA 0.388 35 46 --- --- --- --- PASS DNAH8 1769 broad.mit.edu 37 6 38913256 38913256 + Silent SNP G A A TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr6:38913256G>A uc003ooe.1 + 78 11970 c.11370G>A c.(11368-11370)CTG>CTA p.L3790L DNAH8_uc003oog.1_Silent_p.L239L|uc003oof.1_Intron 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 GAGCAGCTCTGGACCTGAAAG 0.448 52 105 --- --- --- --- PASS KCNK16 83795 broad.mit.edu 37 6 39290233 39290233 + Silent SNP A G G TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr6:39290233A>G uc003ooq.2 - 1 98 c.84T>C c.(82-84)GGT>GGC p.G28G KCNK16_uc003oor.3_Silent_p.G28G|KCNK16_uc010jwy.2_Silent_p.G28G|KCNK16_uc011dtz.1_Silent_p.G28G NM_032115 NP_115491 Q96T55 KCNKG_HUMAN potassium channel, subfamily K, member 16 28 Helical; (Potential). integral to membrane potassium channel activity|voltage-gated ion channel activity ovary(2)|skin(1) 3 AGATAGTGGCACCGAGCAGCA 0.637 6 23 --- --- --- --- PASS TDRD6 221400 broad.mit.edu 37 6 46659204 46659204 + Silent SNP G T T TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr6:46659204G>T uc003oyj.2 + 1 3339 c.3339G>T c.(3337-3339)GTG>GTT p.V1113V TDRD6_uc010jze.2_Silent_p.V1107V NM_001010870 NP_001010870 O60522 TDRD6_HUMAN tudor domain containing 6 1113 cell differentiation|multicellular organismal development|spermatogenesis chromatoid body nucleic acid binding breast(3)|ovary(2)|skin(1) 6 Lung(136;0.192) AAGTGGTGGTGTGGTTTCAGG 0.368 97 143 --- --- --- --- PASS FBXO9 26268 broad.mit.edu 37 6 52945894 52945894 + Missense_Mutation SNP C T T TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr6:52945894C>T uc003pbo.2 + 6 617 c.566C>T c.(565-567)TCA>TTA p.S189L FBXO9_uc003pbk.2_Missense_Mutation_p.S145L|FBXO9_uc003pbl.2_Missense_Mutation_p.S179L|FBXO9_uc003pbm.2_Missense_Mutation_p.S69L|FBXO9_uc003pbn.2_Missense_Mutation_p.S69L NM_012347 NP_036479 Q9UK97 FBX9_HUMAN F-box only protein 9 isoform 1 189 F-box. ubiquitin ligase complex ubiquitin-protein ligase activity pancreas(1) 1 Lung NSC(77;0.103) ATTCACATATCAGGTGTGAAT 0.388 53 80 --- --- --- --- PASS GFRAL 389400 broad.mit.edu 37 6 55216280 55216280 + Missense_Mutation SNP G T T TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr6:55216280G>T uc003pcm.1 + 5 686 c.600G>T c.(598-600)CAG>CAT p.Q200H NM_207410 NP_997293 Q6UXV0 GFRAL_HUMAN GDNF family receptor alpha like precursor 200 Extracellular (Potential). integral to membrane receptor activity ovary(1)|breast(1) 2 Lung NSC(77;0.0875)|Renal(3;0.122) LUSC - Lung squamous cell carcinoma(124;0.23) CTTGTCAGCAGTCCAAAGAAG 0.438 42 199 --- --- --- --- PASS PRIM2 5558 broad.mit.edu 37 6 57472429 57472429 + Silent SNP A G G TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr6:57472429A>G uc003pdx.2 + 13 1305 c.1218A>G c.(1216-1218)GGA>GGG p.G406G NM_000947 NP_000938 P49643 PRI2_HUMAN DNA primase polypeptide 2 406 DNA replication, synthesis of RNA primer|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication alpha DNA polymerase:primase complex|nucleoplasm 4 iron, 4 sulfur cluster binding|DNA binding|DNA primase activity|metal ion binding 0 Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193) TCTCTCCTGGAGGGATAAGCC 0.448 7 52 --- --- --- --- PASS OOEP 441161 broad.mit.edu 37 6 74104640 74104640 + Translation_Start_Site SNP C T T TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr6:74104640C>T uc003pgv.3 - 1 177 c.-316G>A c.(-318--314)CCGTG>CCATG DDX43_uc011dyn.1_RNA|DDX43_uc003pgw.2_Silent_p.H4H NM_001080507 NP_001073976 A6NGQ2 OOEP_HUMAN oocyte expressed protein homolog cytoplasm 0 TGTCCCACCACGGAGGAGCTC 0.632 21 98 --- --- --- --- PASS SENP6 26054 broad.mit.edu 37 6 76388391 76388391 + Silent SNP C T T TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr6:76388391C>T uc003pid.3 + 15 2560 c.1941C>T c.(1939-1941)TTC>TTT p.F647F SENP6_uc003pie.3_Silent_p.F640F|SENP6_uc010kbf.2_RNA|SENP6_uc003pic.2_Silent_p.F640F|SENP6_uc003pif.1_Silent_p.F538F NM_015571 NP_056386 Q9GZR1 SENP6_HUMAN SUMO1/sentrin specific peptidase 6 isoform 1 647 proteolysis cytoplasm|nucleus cysteine-type peptidase activity breast(2)|urinary_tract(1)|ovary(1)|lung(1)|skin(1) 6 all_hematologic(105;0.189) ACACCATCTTCATTGGCCCAG 0.299 167 111 --- --- --- --- PASS SIM1 6492 broad.mit.edu 37 6 100838798 100838798 + Missense_Mutation SNP G T T TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr6:100838798G>T uc003pqj.3 - 11 1947 c.1740C>A c.(1738-1740)AAC>AAA p.N580K SIM1_uc010kcu.2_Missense_Mutation_p.N580K NM_005068 NP_005059 P81133 SIM1_HUMAN single-minded homolog 1 580 Single-minded C-terminal. cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity ovary(4) 4 all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13) BRCA - Breast invasive adenocarcinoma(108;0.0774) GCTGTAATCTGTTCTCTTCTT 0.448 100 87 --- --- --- --- PASS SIM1 6492 broad.mit.edu 37 6 100838801 100838801 + Silent SNP C T T TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr6:100838801C>T uc003pqj.3 - 11 1944 c.1737G>A c.(1735-1737)GAG>GAA p.E579E SIM1_uc010kcu.2_Silent_p.E579E NM_005068 NP_005059 P81133 SIM1_HUMAN single-minded homolog 1 579 Single-minded C-terminal. cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity p.E579D(1) ovary(4) 4 all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13) BRCA - Breast invasive adenocarcinoma(108;0.0774) GTAATCTGTTCTCTTCTTCTT 0.448 30 161 --- --- --- --- PASS GRIK2 2898 broad.mit.edu 37 6 102337543 102337543 + Missense_Mutation SNP C T T TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr6:102337543C>T uc003pqp.3 + 11 1802 c.1553C>T c.(1552-1554)GCT>GTT p.A518V GRIK2_uc003pqn.2_Missense_Mutation_p.A518V|GRIK2_uc003pqo.3_Missense_Mutation_p.A518V|GRIK2_uc010kcw.2_Missense_Mutation_p.A518V NM_021956 NP_068775 Q13002 GRIK2_HUMAN glutamate receptor, ionotropic, kainate 2 518 Glutamate binding (By similarity).|Extracellular (Potential). glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity cell junction|postsynaptic membrane extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity ovary(2)|pancreas(1)|breast(1)|skin(1) 5 all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14) all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206) L-Glutamic Acid(DB00142) GCTCCACTGGCTATTACCTAT 0.353 39 175 --- --- --- --- PASS SESN1 27244 broad.mit.edu 37 6 109321750 109321750 + Missense_Mutation SNP C T T TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr6:109321750C>T uc003pst.3 - 4 588 c.496G>A c.(496-498)GAA>AAA p.E166K SESN1_uc003psu.2_Missense_Mutation_p.E225K NM_014454 NP_055269 Q9Y6P5 SESN1_HUMAN sestrin 1 166 cell cycle arrest|negative regulation of cell proliferation|response to DNA damage stimulus nucleus ovary(1) 1 all_cancers(87;6.45e-05)|Acute lymphoblastic leukemia(125;3.55e-10)|all_hematologic(75;1.68e-07)|all_epithelial(87;0.0106)|Colorectal(196;0.0637) Epithelial(106;0.0014)|BRCA - Breast invasive adenocarcinoma(108;0.00146)|all cancers(137;0.0031)|OV - Ovarian serous cystadenocarcinoma(136;0.0117) TTGTTAAGTTCTCCTAAATTC 0.403 34 287 --- --- --- --- PASS PPIL6 285755 broad.mit.edu 37 6 109757363 109757363 + Missense_Mutation SNP T C C TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr6:109757363T>C uc003ptg.3 - 2 229 c.175A>G c.(175-177)ATA>GTA p.I59V PPIL6_uc010kdo.2_Intron|PPIL6_uc010kdp.2_Missense_Mutation_p.I59V NM_173672 NP_775943 Q8IXY8 PPIL6_HUMAN peptidylprolyl isomerase-like 6 isoform 1 59 protein folding peptidyl-prolyl cis-trans isomerase activity 0 all_cancers(87;1.1e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000144)|all_lung(197;0.0221)|Colorectal(196;0.0488)|Lung SC(18;0.0548) Epithelial(106;0.00684)|BRCA - Breast invasive adenocarcinoma(108;0.00889)|all cancers(137;0.0106)|OV - Ovarian serous cystadenocarcinoma(136;0.0259) GGAACTAATATAGGATCTTCA 0.328 411 122 --- --- --- --- PASS RFX6 222546 broad.mit.edu 37 6 117248364 117248364 + Missense_Mutation SNP C T T TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr6:117248364C>T uc003pxm.2 + 17 2123 c.2060C>T c.(2059-2061)CCC>CTC p.P687L NM_173560 NP_775831 Q8HWS3 RFX6_HUMAN regulatory factor X, 6 687 glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation nucleus protein binding|transcription regulatory region DNA binding ovary(1)|pancreas(1)|skin(1) 3 CCCATTTATCCCACTCTCCCT 0.522 30 245 --- --- --- --- PASS CENPW 387103 broad.mit.edu 37 6 126661455 126661455 + Missense_Mutation SNP G C C TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr6:126661455G>C uc003qao.2 + 1 203 c.36G>C c.(34-36)CAG>CAC p.Q12H CENPW_uc003qap.3_RNA NM_001012507 NP_001012525 Q5EE01 CENPW_HUMAN hypothetical protein LOC387103 12 chromosome, centromeric region|nucleus DNA binding 0 AGAGGAAGCAGATAAAGCGGA 0.532 82 59 --- --- --- --- PASS ENPP1 5167 broad.mit.edu 37 6 132198239 132198239 + Missense_Mutation SNP C A A rs79079368 byFrequency TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr6:132198239C>A uc011ecf.1 + 18 1851 c.1831C>A c.(1831-1833)CTG>ATG p.L611M ENPP1_uc003qcy.2_Missense_Mutation_p.L241M NM_006208 NP_006199 P22413 ENPP1_HUMAN ectonucleotide pyrophosphatase/phosphodiesterase 611 Extracellular (Potential). 3'-phosphoadenosine 5'-phosphosulfate metabolic process|biomineral tissue development|cellular phosphate ion homeostasis|cellular response to insulin stimulus|generation of precursor metabolites and energy|immune response|inorganic diphosphate transport|negative regulation of cell growth|negative regulation of fat cell differentiation|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of protein autophosphorylation|nucleoside triphosphate catabolic process|phosphate metabolic process|sequestering of triglyceride|water-soluble vitamin metabolic process basolateral plasma membrane|cell surface|extracellular space|integral to membrane ATP binding|insulin receptor binding|metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|protein homodimerization activity|scavenger receptor activity upper_aerodigestive_tract(2)|ovary(2) 4 Breast(56;0.0505) GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022) Amifostine(DB01143)|Ribavirin(DB00811) AGTGCACCCCCTGGTACAGTG 0.463 16 117 --- --- --- --- PASS AHI1 54806 broad.mit.edu 37 6 135769594 135769594 + Missense_Mutation SNP T C C TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr6:135769594T>C uc003qgi.2 - 12 1844 c.1460A>G c.(1459-1461)AAT>AGT p.N487S AHI1_uc003qgg.2_5'UTR|AHI1_uc003qgh.2_Missense_Mutation_p.N487S|AHI1_uc003qgj.2_Missense_Mutation_p.N487S|AHI1_uc003qgk.3_RNA|AHI1_uc003qgl.3_Missense_Mutation_p.N487S NM_001134831 NP_001128303 Q8N157 AHI1_HUMAN Abelson helper integration site 1 isoform a 487 adherens junction|cilium|microtubule basal body ovary(1)|kidney(1)|central_nervous_system(1) 3 Breast(56;0.239)|Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991) GATGTTTGCATTTCCATTGGC 0.348 24 200 --- --- --- --- PASS MAP3K5 4217 broad.mit.edu 37 6 136934373 136934373 + Missense_Mutation SNP C T T rs114243010 by1000genomes TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr6:136934373C>T uc003qhc.2 - 17 2661 c.2300G>A c.(2299-2301)CGT>CAT p.R767H MAP3K5_uc011edj.1_Missense_Mutation_p.R14H|MAP3K5_uc011edk.1_Missense_Mutation_p.R612H NM_005923 NP_005914 Q99683 M3K5_HUMAN mitogen-activated protein kinase kinase kinase 767 Protein kinase. activation of JUN kinase activity|activation of MAPKK activity|cellular response to hydrogen peroxide|induction of apoptosis by extracellular signals|interspecies interaction between organisms ATP binding|caspase activator activity|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein phosphatase binding ovary(2)|skin(2)|lung(1) 5 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569) CCATTTGGAACGAAGGAGAGC 0.318 17 185 --- --- --- --- PASS RPS6KA2 6196 broad.mit.edu 37 6 166923830 166923830 + Missense_Mutation SNP C T T TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr6:166923830C>T uc003qvb.1 - 4 533 c.314G>A c.(313-315)AGA>AAA p.R105K RPS6KA2_uc011ego.1_Missense_Mutation_p.R16K|RPS6KA2_uc010kkl.1_Missense_Mutation_p.R16K|RPS6KA2_uc003qvc.1_Missense_Mutation_p.R113K|RPS6KA2_uc003qvd.1_Missense_Mutation_p.R130K|MIR1913_hsa-mir-1913|MI0008334_5'Flank NM_021135 NP_066958 Q15349 KS6A2_HUMAN ribosomal protein S6 kinase, 90kDa, polypeptide 105 Protein kinase 1. 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) CATCTTCGATCTCACTCGGTC 0.398 4 123 --- --- --- --- PASS TTYH3 80727 broad.mit.edu 37 7 2686580 2686580 + Missense_Mutation SNP C T T TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr7:2686580C>T uc003smp.2 + 2 404 c.217C>T c.(217-219)CGC>TGC p.R73C TTYH3_uc010ksn.2_5'Flank|TTYH3_uc003smq.2_5'Flank NM_025250 NP_079526 Q9C0H2 TTYH3_HUMAN tweety 3 73 Cytoplasmic (Potential). chloride channel complex|plasma membrane chloride channel activity 0 Ovarian(82;0.0112) OV - Ovarian serous cystadenocarcinoma(56;2.04e-14) CTGCCGGCGGCGCAAGAGCGA 0.617 4 17 --- --- --- --- PASS SDK1 221935 broad.mit.edu 37 7 4116674 4116674 + Missense_Mutation SNP C T T TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr7:4116674C>T uc003smx.2 + 21 3194 c.3055C>T c.(3055-3057)CTC>TTC p.L1019F SDK1_uc010kso.2_Missense_Mutation_p.L295F NM_152744 NP_689957 Q7Z5N4 SDK1_HUMAN sidekick 1 precursor 1019 Fibronectin type-III 4. cell adhesion integral to membrane large_intestine(3)|ovary(2)|skin(1) 6 all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194) UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15) CGACTCTCGTCTCACGCACAC 0.572 5 48 --- --- --- --- PASS HDAC9 9734 broad.mit.edu 37 7 18684299 18684299 + Missense_Mutation SNP G A A TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr7:18684299G>A uc003suh.2 + 8 950 c.909G>A c.(907-909)ATG>ATA p.M303I HDAC9_uc003sue.2_Missense_Mutation_p.M303I|HDAC9_uc011jyd.1_Missense_Mutation_p.M303I|HDAC9_uc003sui.2_Missense_Mutation_p.M306I|HDAC9_uc003suj.2_Missense_Mutation_p.M262I|HDAC9_uc011jya.1_Missense_Mutation_p.M300I|HDAC9_uc003sua.1_Missense_Mutation_p.M281I|HDAC9_uc011jyb.1_Missense_Mutation_p.M259I|HDAC9_uc003sud.1_Missense_Mutation_p.M303I|HDAC9_uc011jyc.1_Missense_Mutation_p.M262I|HDAC9_uc003suf.1_Missense_Mutation_p.M334I|HDAC9_uc010kud.1_Missense_Mutation_p.M306I|HDAC9_uc011jye.1_Missense_Mutation_p.M275I|HDAC9_uc011jyf.1_Missense_Mutation_p.M226I|HDAC9_uc010kue.1_Missense_Mutation_p.M46I NM_058176 NP_478056 Q9UKV0 HDAC9_HUMAN histone deacetylase 9 isoform 1 303 Interaction with MAPK10 (By similarity). B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity lung(2)|central_nervous_system(2)|kidney(1) 5 all_lung(11;0.187) Valproic Acid(DB00313) AACAGCAAATGGTTTCACAGC 0.373 28 66 --- --- --- --- PASS STK31 56164 broad.mit.edu 37 7 23757152 23757152 + Missense_Mutation SNP T A A TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr7:23757152T>A uc003sws.3 + 4 270 c.203T>A c.(202-204)GTT>GAT p.V68D STK31_uc003swt.3_Missense_Mutation_p.V45D|STK31_uc011jze.1_Missense_Mutation_p.V68D|STK31_uc010kuq.2_Missense_Mutation_p.V45D NM_031414 NP_113602 Q9BXU1 STK31_HUMAN serine/threonine kinase 31 isoform a 68 ATP binding|nucleic acid binding|protein serine/threonine kinase activity skin(3)|lung(2)|ovary(2)|stomach(2) 9 CTGTCTGAAGTTTGCCCCCAG 0.353 24 41 --- --- --- --- PASS TAX1BP1 8887 broad.mit.edu 37 7 27833973 27833973 + Missense_Mutation SNP C T T TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr7:27833973C>T uc003szl.2 + 11 1600 c.1442C>T c.(1441-1443)ACG>ATG p.T481M TAX1BP1_uc011jzo.1_Missense_Mutation_p.T481M|TAX1BP1_uc003szk.2_Missense_Mutation_p.T481M|TAX1BP1_uc011jzp.1_Missense_Mutation_p.T324M NM_006024 NP_006015 Q86VP1 TAXB1_HUMAN Tax1 (human T-cell leukemia virus type I) 481 Potential. anti-apoptosis|apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production cytosol identical protein binding|kinase binding|zinc ion binding breast(1) 1 GBM - Glioblastoma multiforme(3;0.0823) ACAAAGAAAACGGGGAATCAG 0.353 18 79 --- --- --- --- PASS NOD1 10392 broad.mit.edu 37 7 30492316 30492316 + Silent SNP G A A TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr7:30492316G>A uc003tav.2 - 6 1240 c.717C>T c.(715-717)TTC>TTT p.F239F NOD1_uc010kvs.2_Intron NM_006092 NP_006083 Q9Y239 NOD1_HUMAN nucleotide-binding oligomerization domain 239 NACHT. activation of MAPK activity|detection of bacterium|induction of apoptosis|inflammatory response|innate immune response|interleukin-8 biosynthetic process|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein oligomerization|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 basolateral plasma membrane|cytosol ATP binding|CARD domain binding|caspase activator activity|peptidoglycan binding|protein homodimerization activity ovary(1)|skin(1) 2 TGAAGCAGCTGAACATGCGGC 0.597 46 103 --- --- --- --- PASS TXNDC3 51314 broad.mit.edu 37 7 37890021 37890021 + Missense_Mutation SNP G T T TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr7:37890021G>T uc003tfn.2 + 4 447 c.75G>T c.(73-75)CAG>CAT p.Q25H NM_016616 NP_057700 Q8N427 TXND3_HUMAN thioredoxin domain containing 3 25 Thioredoxin. cell differentiation|cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|multicellular organismal development|spermatogenesis|UTP biosynthetic process cytoplasm|microtubule cytoskeleton ATP binding|nucleoside diphosphate kinase activity ovary(1)|breast(1)|central_nervous_system(1) 3 AGATGTTGCAGAACAAAGGCT 0.502 Kartagener_syndrome 91 188 --- --- --- --- PASS AMPH 273 broad.mit.edu 37 7 38431426 38431426 + Missense_Mutation SNP G T T TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr7:38431426G>T uc003tgu.2 - 19 1870 c.1801C>A c.(1801-1803)CCA>ACA p.P601T AMPH_uc003tgv.2_Missense_Mutation_p.P559T|AMPH_uc003tgt.2_Missense_Mutation_p.P486T|AMPH_uc003tgw.1_Missense_Mutation_p.P624T|AMPH_uc010kxl.1_RNA NM_001635 NP_001626 P49418 AMPH_HUMAN amphiphysin isoform 1 601 endocytosis|synaptic transmission actin cytoskeleton|cell junction|synaptic vesicle membrane ovary(3)|liver(1)|skin(1) 5 CCCATGGCTGGTGCAGAAGGC 0.597 16 61 --- --- --- --- PASS HECW1 23072 broad.mit.edu 37 7 43351583 43351583 + Silent SNP C A A TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr7:43351583C>A uc003tid.1 + 4 854 c.249C>A c.(247-249)GTC>GTA p.V83V HECW1_uc011kbi.1_Silent_p.V83V|HECW1_uc003tie.1_Silent_p.V115V NM_015052 NP_055867 Q76N89 HECW1_HUMAN NEDD4-like ubiquitin-protein ligase 1 83 protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus ubiquitin-protein ligase activity ovary(8)|lung(6)|breast(4)|skin(4)|pancreas(1) 23 CGCTCATGGTCAGCAGCTCCT 0.612 25 63 --- --- --- --- PASS URGCP 55665 broad.mit.edu 37 7 43918403 43918403 + Missense_Mutation SNP G A A TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr7:43918403G>A uc003tiw.2 - 6 716 c.659C>T c.(658-660)TCG>TTG p.S220L URGCP_uc003tiu.2_Missense_Mutation_p.S177L|URGCP_uc003tiv.2_Missense_Mutation_p.S145L|URGCP_uc003tix.2_Missense_Mutation_p.S211L|URGCP_uc003tiy.2_Missense_Mutation_p.S177L|URGCP_uc003tiz.2_Missense_Mutation_p.S177L|URGCP_uc011kbj.1_Missense_Mutation_p.S177L NM_001077663 NP_001071131 Q8TCY9 URGCP_HUMAN up-regulated gene 4 isoform 3 220 cell cycle centrosome|nucleus GTP binding ovary(2)|liver(1)|skin(1) 4 GTGGTTCTCCGAGTCAGGCAA 0.572 11 40 --- --- --- --- PASS C7orf57 136288 broad.mit.edu 37 7 48083169 48083169 + Silent SNP G A A TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr7:48083169G>A uc003toh.3 + 4 545 c.333G>A c.(331-333)CCG>CCA p.P111P C7orf57_uc003toi.3_5'UTR NM_001100159 NP_001093629 Q8NEG2 CG057_HUMAN hypothetical protein LOC136288 111 ovary(1) 1 GCAAGCCACCGACAGCCAGCC 0.423 5 18 --- --- --- --- PASS ASL 435 broad.mit.edu 37 7 65554683 65554683 + Splice_Site SNP G T T TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr7:65554683G>T uc003tuo.2 + 14 1173 c.1062_splice c.e14+1 p.Q354_splice ASL_uc003tup.2_Splice_Site_p.Q354_splice|ASL_uc003tur.2_Splice_Site_p.Q328_splice|ASL_uc003tuq.2_Splice_Site_p.Q334_splice NM_000048 NP_000039 P04424 ARLY_HUMAN argininosuccinate lyase isoform 1 arginine biosynthetic process via ornithine|arginine catabolic process|urea cycle cytosol argininosuccinate lyase activity breast(2) 2 L-Arginine(DB00125) TACGCTGCAGGCAAGACATCA 0.632 6 27 --- --- --- --- PASS WBSCR17 64409 broad.mit.edu 37 7 71177092 71177092 + Nonsense_Mutation SNP C A A TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr7:71177092C>A uc003tvy.2 + 11 1758 c.1758C>A c.(1756-1758)TGC>TGA p.C586* WBSCR17_uc003tvz.2_Nonsense_Mutation_p.C285* NM_022479 NP_071924 Q6IS24 GLTL3_HUMAN UDP-GalNAc:polypeptide 586 Ricin B-type lectin.|Lumenal (Potential). Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding skin(3)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)|central_nervous_system(1) 7 all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125) TCCGCAGCTGCACAGGTCAGA 0.632 29 122 --- --- --- --- PASS HGF 3082 broad.mit.edu 37 7 81350087 81350087 + Nonsense_Mutation SNP C T T TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr7:81350087C>T uc003uhl.2 - 10 1410 c.1245G>A c.(1243-1245)TGG>TGA p.W415* HGF_uc003uhm.2_Nonsense_Mutation_p.W410* NM_000601 NP_000592 P14210 HGF_HUMAN hepatocyte growth factor isoform 1 415 Kringle 4. 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 TGTTCTTGTCCCACATTGAAC 0.333 27 65 --- --- --- --- PASS CROT 54677 broad.mit.edu 37 7 86998748 86998748 + Missense_Mutation SNP G T T TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr7:86998748G>T uc003uit.2 + 7 849 c.604G>T c.(604-606)GTC>TTC p.V202F CROT_uc003uiu.2_Missense_Mutation_p.V230F NM_021151 NP_066974 Q9UKG9 OCTC_HUMAN peroxisomal carnitine O-octanoyltransferase 202 fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|transport peroxisomal matrix carnitine O-octanoyltransferase activity ovary(2)|lung(1) 3 Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203) L-Carnitine(DB00583) CCGAGCTTTTGTCTTTGATGT 0.433 39 232 --- --- --- --- PASS ABCB1 5243 broad.mit.edu 37 7 87170770 87170770 + Missense_Mutation SNP C A A TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr7:87170770C>A uc003uiz.1 - 19 2640 c.2222G>T c.(2221-2223)AGA>ATA p.R741I ABCB1_uc011khc.1_Missense_Mutation_p.R677I NM_000927 NP_000918 P08183 MDR1_HUMAN ATP-binding cassette, subfamily B, member 1 741 ABC transmembrane type-1 2. G2/M transition of mitotic cell cycle|stem cell proliferation apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction ATP binding|protein binding|xenobiotic-transporting ATPase activity ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1) 7 Esophageal squamous(14;0.00164) Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570) ATCATCAATTCTTGTAAAAAC 0.358 23 132 --- --- --- --- PASS ADAM22 53616 broad.mit.edu 37 7 87737555 87737555 + Missense_Mutation SNP C T T TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr7:87737555C>T uc003ujn.2 + 5 534 c.455C>T c.(454-456)TCA>TTA p.S152L ADAM22_uc003uji.1_Missense_Mutation_p.S151L|ADAM22_uc003ujj.1_Missense_Mutation_p.S152L|ADAM22_uc003ujk.1_Missense_Mutation_p.S152L|ADAM22_uc003ujl.1_Missense_Mutation_p.S152L|ADAM22_uc003ujm.2_Missense_Mutation_p.S152L|ADAM22_uc003ujo.2_Missense_Mutation_p.S152L|ADAM22_uc003ujp.1_Missense_Mutation_p.S204L NM_021723 NP_068369 Q9P0K1 ADA22_HUMAN ADAM metallopeptidase domain 22 isoform 1 152 cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis integral to membrane integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding ovary(4)|skin(2)|lung(1)|kidney(1) 8 Esophageal squamous(14;0.00202) STAD - Stomach adenocarcinoma(171;0.215) GTTGCATTGTCAACATGCCAC 0.348 16 83 --- --- --- --- PASS ZNF804B 219578 broad.mit.edu 37 7 88963235 88963235 + Silent SNP A C C TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr7:88963235A>C uc011khi.1 + 4 1477 c.939A>C c.(937-939)ACA>ACC p.T313T NM_181646 NP_857597 A4D1E1 Z804B_HUMAN zinc finger protein 804B 313 intracellular zinc ion binding ovary(5)|skin(3)|pancreas(2)|upper_aerodigestive_tract(1) 11 all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151) STAD - Stomach adenocarcinoma(171;0.0513) TTGATGAGACACTAGAAGATT 0.343 HNSCC(36;0.09) 20 76 --- --- --- --- PASS CCDC132 55610 broad.mit.edu 37 7 92978023 92978023 + Silent SNP G A A TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr7:92978023G>A uc003umo.2 + 24 2336 c.2208G>A c.(2206-2208)TTG>TTA p.L736L CCDC132_uc003umq.2_RNA|CCDC132_uc003ump.2_Silent_p.L706L|CCDC132_uc003umr.2_RNA|CCDC132_uc011khz.1_Silent_p.L456L NM_017667 NP_060137 Q96JG6 CC132_HUMAN coiled-coil domain containing 132 isoform a 736 0 all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837) STAD - Stomach adenocarcinoma(171;0.000302) TTCCCTTTAGGGTATTCTTGG 0.393 23 127 --- --- --- --- PASS CCDC132 55610 broad.mit.edu 37 7 92983001 92983001 + Missense_Mutation SNP G T T TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr7:92983001G>T uc003umo.2 + 26 2641 c.2513G>T c.(2512-2514)CGC>CTC p.R838L CCDC132_uc003umq.2_RNA|CCDC132_uc003ump.2_Missense_Mutation_p.R808L|CCDC132_uc003umr.2_RNA|CCDC132_uc011khz.1_Missense_Mutation_p.R558L NM_017667 NP_060137 Q96JG6 CC132_HUMAN coiled-coil domain containing 132 isoform a 838 0 all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837) STAD - Stomach adenocarcinoma(171;0.000302) AAGAGAGTTCGCATACCCTTG 0.348 45 193 --- --- --- --- PASS CALCR 799 broad.mit.edu 37 7 93101770 93101770 + Missense_Mutation SNP C A A TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr7:93101770C>A uc003umv.1 - 6 661 c.400G>T c.(400-402)GGT>TGT p.G134C CALCR_uc003ums.1_RNA|CALCR_uc003umt.1_RNA|CALCR_uc003umu.1_Missense_Mutation_p.G116C|CALCR_uc003umw.2_Missense_Mutation_p.G116C NM_001742 NP_001733 P30988 CALCR_HUMAN calcitonin receptor isoform 2 precursor 116 Extracellular (Potential). activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus integral to plasma membrane calcitonin binding|calcitonin binding|calcitonin receptor activity|calcitonin receptor activity|protein binding ovary(3)|lung(3)|skin(2)|pancreas(1) 9 all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207) STAD - Stomach adenocarcinoma(171;0.000244) Salmon Calcitonin(DB00017) AACCAAACACCTTTTTCATCA 0.323 36 127 --- --- --- --- PASS NRCAM 4897 broad.mit.edu 37 7 107824691 107824691 + Silent SNP C T T TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr7:107824691C>T uc003vfb.2 - 22 2769 c.2298G>A c.(2296-2298)ACG>ACA p.T766T NRCAM_uc003vfc.2_Silent_p.T750T|NRCAM_uc011kmk.1_Silent_p.T761T|NRCAM_uc003vfd.2_Silent_p.T742T|NRCAM_uc003vfe.2_Silent_p.T742T NM_001037132 NP_001032209 Q92823 NRCAM_HUMAN neuronal cell adhesion molecule isoform A 766 Fibronectin type-III 2.|Extracellular (Potential). angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly external side of plasma membrane|integral to plasma membrane ankyrin binding ovary(3)|breast(2) 5 TCACCTTCCACGTAATCACCA 0.378 23 116 --- --- --- --- PASS WNT2 7472 broad.mit.edu 37 7 116955210 116955210 + Missense_Mutation SNP G A A TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr7:116955210G>A uc003viz.2 - 3 803 c.503C>T c.(502-504)GCC>GTC p.A168V WNT2_uc003vja.2_Missense_Mutation_p.A72V NM_003391 NP_003382 P09544 WNT2_HUMAN wingless-type MMTV integration site family 168 atrial cardiac muscle tissue morphogenesis|canonical Wnt receptor signaling pathway|cardiac epithelial to mesenchymal transition|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|dorsal/ventral axis specification|iris morphogenesis|labyrinthine layer blood vessel development|lens development in camera-type eye|lung induction|mammary gland epithelium development|neuron differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of fibroblast proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, calcium modulating pathway cytoplasm|extracellular space|proteinaceous extracellular matrix cytokine activity|frizzled binding|frizzled-2 binding|signal transducer activity breast(2)|central_nervous_system(2)|ovary(1)|lung(1)|skin(1) 7 all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109) STAD - Stomach adenocarcinoma(10;0.000512) LUSC - Lung squamous cell carcinoma(290;0.133) AAATGCGCGGGCAAATTTGAT 0.433 43 139 --- --- --- --- PASS RNF148 378925 broad.mit.edu 37 7 122342406 122342406 + Missense_Mutation SNP T A A TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr7:122342406T>A uc003vkk.1 - 1 616 c.399A>T c.(397-399)CAA>CAT p.Q133H CADPS2_uc010lkp.2_Intron|CADPS2_uc010lkq.2_Intron|RNF148_uc010lkr.1_Intron NM_198085 NP_932351 Q8N7C7 RN148_HUMAN ring finger protein 148 precursor 133 PA. integral to membrane zinc ion binding 0 TGCCCGTACCTTGATAGTTGT 0.473 217 351 --- --- --- --- PASS MKRN1 23608 broad.mit.edu 37 7 140159596 140159596 + Missense_Mutation SNP C T T TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr7:140159596C>T uc003vvt.2 - 3 680 c.455G>A c.(454-456)AGA>AAA p.R152K MKRN1_uc003vvs.2_Missense_Mutation_p.R88K|MKRN1_uc011krd.1_Intron|MKRN1_uc003vvv.3_Missense_Mutation_p.R152K|MKRN1_uc003vvu.3_Missense_Mutation_p.R88K NM_013446 NP_038474 Q9UHC7 MKRN1_HUMAN makorin ring finger protein 1 isoform 1 152 ligase activity|nucleic acid binding|protein binding|zinc ion binding ovary(1) 1 Melanoma(164;0.00956) GTTTGAATTTCTTGACTCAGC 0.453 41 140 --- --- --- --- PASS CNTNAP2 26047 broad.mit.edu 37 7 147092721 147092721 + Missense_Mutation SNP A T T TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr7:147092721A>T uc003weu.1 + 10 2035 c.1519A>T c.(1519-1521)AAC>TAC p.N507Y NM_014141 NP_054860 Q9UHC6 CNTP2_HUMAN cell recognition molecule Caspr2 precursor 507 Extracellular (Potential).|Laminin G-like 2. behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex receptor binding ovary(9)|central_nervous_system(1)|pancreas(1) 11 Melanoma(164;0.153) all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794) OV - Ovarian serous cystadenocarcinoma(82;0.0319) CCAGATGAATAACTCAAGTCA 0.398 HNSCC(39;0.1) 110 211 --- --- --- --- PASS GIMAP6 474344 broad.mit.edu 37 7 150327164 150327164 + Missense_Mutation SNP C T T TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr7:150327164C>T uc003whn.2 - 2 491 c.67G>A c.(67-69)GTG>ATG p.V23M GIMAP6_uc003whm.2_Silent_p.L17L NM_024711 NP_078987 Q6P9H5 GIMA6_HUMAN GTPase, IMAP family member 6 23 GTP binding upper_aerodigestive_tract(1)|ovary(1)|skin(1) 3 OV - Ovarian serous cystadenocarcinoma(82;0.0145) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) AGCTCCAGCACAGGATCCTGG 0.453 11 359 --- --- --- --- PASS GPR124 25960 broad.mit.edu 37 8 37697643 37697643 + Missense_Mutation SNP G A A TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr8:37697643G>A uc003xkj.2 + 17 2879 c.2516G>A c.(2515-2517)GGC>GAC p.G839D GPR124_uc010lvy.2_Missense_Mutation_p.G622D NM_032777 NP_116166 Q96PE1 GP124_HUMAN G protein-coupled receptor 124 precursor 839 Helical; Name=3; (Potential). central nervous system development|endothelial cell migration|neuropeptide signaling pathway|regulation of angiogenesis|regulation of chemotaxis|sprouting angiogenesis integral to membrane|plasma membrane G-protein coupled receptor activity large_intestine(2)|ovary(2)|skin(1) 5 BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10) CCGCAGGTGGGCATCACCCTG 0.652 5 299 --- --- --- --- PASS WHSC1L1 54904 broad.mit.edu 37 8 38133958 38133958 + Nonsense_Mutation SNP G A A TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr8:38133958G>A uc003xli.2 - 23 4446 c.3928C>T c.(3928-3930)CGA>TGA p.R1310* WHSC1L1_uc011lbm.1_Nonsense_Mutation_p.R1299*|WHSC1L1_uc010lwe.2_Nonsense_Mutation_p.R1261*|WHSC1L1_uc003xlh.2_Nonsense_Mutation_p.R89* NM_023034 NP_075447 Q9BZ95 NSD3_HUMAN WHSC1L1 protein isoform long 1310 cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome histone-lysine N-methyltransferase activity|zinc ion binding breast(1) 1 Colorectal(12;0.000442)|Esophageal squamous(3;0.0725) all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065) Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511) TTGATCTTTCGTCTCTTCTGT 0.403 T NUP98 AML 20 312 --- --- --- --- PASS RP1 6101 broad.mit.edu 37 8 55539409 55539409 + Missense_Mutation SNP G T T TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr8:55539409G>T uc003xsd.1 + 4 3115 c.2967G>T c.(2965-2967)GAG>GAT p.E989D RP1_uc011ldy.1_Intron NM_006269 NP_006260 P56715 RP1_HUMAN retinitis pigmentosa RP1 protein 989 axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding skin(7)|ovary(4)|pancreas(1) 12 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) TATGTAAAGAGGGAGATAAGT 0.368 51 232 --- --- --- --- PASS ARMC1 55156 broad.mit.edu 37 8 66525598 66525598 + Missense_Mutation SNP C T T TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr8:66525598C>T uc003xvl.2 - 4 581 c.346G>A c.(346-348)GCA>ACA p.A116T ARMC1_uc011leo.1_Intron NM_018120 NP_060590 Q9NVT9 ARMC1_HUMAN armadillo repeat-containing protein 116 metal ion transport metal ion binding skin(1) 1 Epithelial(68;0.103)|OV - Ovarian serous cystadenocarcinoma(28;0.235) TCACCATCTGCCATATTGGAG 0.363 65 131 --- --- --- --- PASS C8orf84 157869 broad.mit.edu 37 8 73979670 73979670 + Missense_Mutation SNP G A A TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr8:73979670G>A uc003xzf.2 - 5 906 c.701C>T c.(700-702)GCA>GTA p.A234V NM_153225 NP_694957 Q8IVN8 RPESP_HUMAN RPE-spondin precursor 234 immune response extracellular region polysaccharide binding|scavenger receptor activity 0 ATTACCAATTGCTTGCCAATG 0.378 51 91 --- --- --- --- PASS ZFHX4 79776 broad.mit.edu 37 8 77764043 77764043 + Missense_Mutation SNP G T T TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr8:77764043G>T uc003yav.2 + 10 5138 c.4751G>T c.(4750-4752)AGT>ATT p.S1584I ZFHX4_uc003yau.1_Missense_Mutation_p.S1629I|ZFHX4_uc003yaw.1_Missense_Mutation_p.S1584I NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN zinc finger homeodomain 4 1584 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) CTGGAGCCCAGTGGTCATGTG 0.507 HNSCC(33;0.089) 41 57 --- --- --- --- PASS ZFHX4 79776 broad.mit.edu 37 8 77767662 77767662 + Silent SNP G T T TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr8:77767662G>T uc003yav.2 + 10 8757 c.8370G>T c.(8368-8370)CCG>CCT p.P2790P ZFHX4_uc003yau.1_Silent_p.P2835P|ZFHX4_uc003yaw.1_Silent_p.P2790P NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN zinc finger homeodomain 4 2790 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) ATGTGAAACCGGCTTTGTCTC 0.488 HNSCC(33;0.089) 5 50 --- --- --- --- PASS ZFHX4 79776 broad.mit.edu 37 8 77767663 77767663 + Missense_Mutation SNP G T T TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr8:77767663G>T uc003yav.2 + 10 8758 c.8371G>T c.(8371-8373)GCT>TCT p.A2791S ZFHX4_uc003yau.1_Missense_Mutation_p.A2836S|ZFHX4_uc003yaw.1_Missense_Mutation_p.A2791S NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN zinc finger homeodomain 4 2791 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) TGTGAAACCGGCTTTGTCTCC 0.493 HNSCC(33;0.089) 5 50 --- --- --- --- PASS DECR1 1666 broad.mit.edu 37 8 91029541 91029541 + Missense_Mutation SNP G T T TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr8:91029541G>T uc003yek.1 + 2 400 c.259G>T c.(259-261)GTG>TTG p.V87L DECR1_uc011lgc.1_Missense_Mutation_p.V78L|DECR1_uc011lgd.1_Intron NM_001359 NP_001350 Q16698 DECR_HUMAN 2,4-dienoyl CoA reductase 1 precursor 87 NADP. fatty acid beta-oxidation|protein homotetramerization mitochondrial matrix|nucleus|plasma membrane 2,4-dienoyl-CoA reductase (NADPH) activity|NADPH binding|oxidoreductase activity, acting on NADH or NADPH 0 BRCA - Breast invasive adenocarcinoma(11;0.00953) TGCTCAGTGCGTGATAGCCAG 0.468 11 53 --- --- --- --- PASS CDH17 1015 broad.mit.edu 37 8 95186469 95186469 + Silent SNP G A A TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr8:95186469G>A uc003ygh.2 - 6 569 c.444C>T c.(442-444)GTC>GTT p.V148V CDH17_uc011lgo.1_Intron|CDH17_uc011lgp.1_Silent_p.V148V NM_004063 NP_004054 Q12864 CAD17_HUMAN cadherin 17 precursor 148 Extracellular (Potential).|Cadherin 2. integral to membrane calcium ion binding ovary(5)|skin(1) 6 Breast(36;4.65e-06) BRCA - Breast invasive adenocarcinoma(8;0.00691) CTGTGGCATTGACATACAAGA 0.403 46 173 --- --- --- --- PASS UBR5 51366 broad.mit.edu 37 8 103298627 103298627 + Missense_Mutation SNP C A A TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr8:103298627C>A uc003ykr.1 - 38 5209 c.5176G>T c.(5176-5178)GCA>TCA p.A1726S UBR5_uc003yks.1_Missense_Mutation_p.A1726S NM_015902 NP_056986 O95071 UBR5_HUMAN ubiquitin protein ligase E3 component n-recognin 1726 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) GTACTGGCTGCTCGCTGATGC 0.468 13 21 --- --- --- --- PASS RIMS2 9699 broad.mit.edu 37 8 104778588 104778588 + Missense_Mutation SNP A C C TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr8:104778588A>C uc003ylp.2 + 3 660 c.521A>C c.(520-522)GAG>GCG p.E174A NM_001100117 NP_001093587 Q9UQ26 RIMS2_HUMAN regulating synaptic membrane exocytosis 2 205 intracellular protein transport cell junction|presynaptic membrane metal ion binding|Rab GTPase binding ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1) 15 OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229) AGAAATGAGGAGGCACCTCAG 0.443 HNSCC(12;0.0054) 34 57 --- --- --- --- PASS PKHD1L1 93035 broad.mit.edu 37 8 110416808 110416808 + Missense_Mutation SNP G A A TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr8:110416808G>A uc003yne.2 + 15 1503 c.1399G>A c.(1399-1401)GAG>AAG p.E467K NM_177531 NP_803875 Q86WI1 PKHL1_HUMAN fibrocystin L precursor 467 Extracellular (Potential). immune response cytosol|extracellular space|integral to membrane receptor activity ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1) 14 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) CTTGCTGCAGGAGTACAGATT 0.308 HNSCC(38;0.096) 13 25 --- --- --- --- PASS CSMD3 114788 broad.mit.edu 37 8 113318350 113318350 + Silent SNP G T T TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr8:113318350G>T uc003ynu.2 - 51 8116 c.7957C>A c.(7957-7959)CGA>AGA p.R2653R CSMD3_uc003yns.2_Silent_p.R1855R|CSMD3_uc003ynt.2_Silent_p.R2613R|CSMD3_uc011lhx.1_Silent_p.R2549R NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 2653 Extracellular (Potential).|Sushi 15. 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 TAGGTAACTCGCGTTCCTACC 0.388 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 61 80 --- --- --- --- PASS SAMD12 401474 broad.mit.edu 37 8 119391882 119391882 + Missense_Mutation SNP T C C TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr8:119391882T>C uc003yom.2 - 4 509 c.380A>G c.(379-381)GAG>GGG p.E127G SAMD12_uc010mda.1_Missense_Mutation_p.E127G|SAMD12_uc010mdb.1_RNA NM_207506 NP_997389 Q8N8I0 SAM12_HUMAN sterile alpha motif domain containing 12 isoform 127 SAM. ovary(1) 1 all_cancers(13;3.91e-25)|Lung NSC(37;1.13e-07)|Ovarian(258;0.0249) STAD - Stomach adenocarcinoma(47;0.00391) CCGGAGGTTCTCCTGGGCAAT 0.478 65 98 --- --- --- --- PASS FER1L6 654463 broad.mit.edu 37 8 124978246 124978246 + Splice_Site SNP G T T TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr8:124978246G>T uc003yqw.2 + 4 404 c.198_splice c.e4-1 p.R66_splice NM_001039112 NP_001034201 Q2WGJ9 FR1L6_HUMAN fer-1-like 6 integral to membrane ovary(5)|skin(5)|central_nervous_system(1) 11 Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741) STAD - Stomach adenocarcinoma(47;0.00186) TCTTTTAATAGATCAAAACTG 0.358 10 30 --- --- --- --- PASS KCNQ3 3786 broad.mit.edu 37 8 133141514 133141514 + Missense_Mutation SNP T G G TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr8:133141514T>G uc003ytj.2 - 15 2839 c.2614A>C c.(2614-2616)ATT>CTT p.I872L KCNQ3_uc010mdt.2_Missense_Mutation_p.I860L|uc003yti.2_5'Flank NM_004519 NP_004510 O43525 KCNQ3_HUMAN potassium voltage-gated channel KQT-like protein 872 axon guidance|synaptic transmission voltage-gated potassium channel complex voltage-gated potassium channel activity ovary(2)|breast(1)|central_nervous_system(1)|skin(1) 5 Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000311) CTCTTTTAAATGGGCTTATTG 0.527 13 44 --- --- --- --- PASS KCNQ3 3786 broad.mit.edu 37 8 133146582 133146582 + Missense_Mutation SNP G A A TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr8:133146582G>A uc003ytj.2 - 13 1979 c.1754C>T c.(1753-1755)TCT>TTT p.S585F KCNQ3_uc010mdt.2_Missense_Mutation_p.S585F NM_004519 NP_004510 O43525 KCNQ3_HUMAN potassium voltage-gated channel KQT-like protein 585 axon guidance|synaptic transmission voltage-gated potassium channel complex voltage-gated potassium channel activity ovary(2)|breast(1)|central_nervous_system(1)|skin(1) 5 Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000311) CCCTTTCTGAGACTTCTTGTG 0.483 32 121 --- --- --- --- PASS PHF20L1 51105 broad.mit.edu 37 8 133855011 133855011 + Missense_Mutation SNP G C C TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr8:133855011G>C uc003ytt.2 + 19 2964 c.2639G>C c.(2638-2640)GGG>GCG p.G880A PHF20L1_uc011lja.1_Missense_Mutation_p.G854A NM_016018 NP_057102 A8MW92 P20L1_HUMAN PHD finger protein 20-like 1 isoform 1 880 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) GCAGACCCTGGGAGCTCAGAT 0.393 30 109 --- --- --- --- PASS FREM1 158326 broad.mit.edu 37 9 14737563 14737563 + Nonsense_Mutation SNP C T T TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr9:14737563C>T uc003zlm.2 - 37 6961 c.6371G>A c.(6370-6372)TGG>TAG p.W2124* FREM1_uc010mic.2_RNA|FREM1_uc003zlk.2_RNA|FREM1_uc003zll.2_Nonsense_Mutation_p.W660* NM_144966 NP_659403 Q5H8C1 FREM1_HUMAN FRAS1 related extracellular matrix 1 precursor 2124 C-type lectin. cell communication|multicellular organismal development basement membrane|integral to membrane metal ion binding|sugar binding ovary(2)|breast(2)|pancreas(1) 5 GBM - Glioblastoma multiforme(50;3.53e-06) GATCCACTCCCAGTGGCCAGC 0.448 7 14 --- --- --- --- PASS UBE2R2 54926 broad.mit.edu 37 9 33900199 33900199 + Missense_Mutation SNP C T T TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr9:33900199C>T uc003ztm.2 + 3 866 c.292C>T c.(292-294)CAT>TAT p.H98Y NM_017811 NP_060281 Q712K3 UB2R2_HUMAN ubiquitin-conjugating enzyme UBC3B 98 protein K48-linked ubiquitination|protein monoubiquitination ATP binding|ubiquitin-protein ligase activity 0 LUSC - Lung squamous cell carcinoma(29;0.0176) GBM - Glioblastoma multiforme(74;0.188) TTCGATTCTTCATCCGCCTGT 0.403 126 66 --- --- --- --- PASS KLF9 687 broad.mit.edu 37 9 73028180 73028180 + Missense_Mutation SNP C G G TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr9:73028180C>G uc004aht.2 - 1 1394 c.100G>C c.(100-102)GAG>CAG p.E34Q NM_001206 NP_001197 Q13886 KLF9_HUMAN Kruppel-like factor 9 34 regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 CGCAGCCGCTCGGCGTCCGGA 0.647 19 37 --- --- --- --- PASS TMC1 117531 broad.mit.edu 37 9 75431061 75431061 + Silent SNP T C C TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr9:75431061T>C uc004aiz.1 + 19 2238 c.1698T>C c.(1696-1698)CCT>CCC p.P566P TMC1_uc010moz.1_Silent_p.P524P|TMC1_uc004aja.1_RNA|TMC1_uc004ajb.1_RNA|TMC1_uc004ajc.1_Silent_p.P420P|TMC1_uc010mpa.1_Silent_p.P420P NM_138691 NP_619636 Q8TDI8 TMC1_HUMAN transmembrane channel-like 1 566 Cytoplasmic (Potential). sensory perception of sound integral to membrane ovary(1) 1 TCCTCTAGCCTTCATACACCG 0.458 69 112 --- --- --- --- PASS TRPM6 140803 broad.mit.edu 37 9 77377111 77377111 + Missense_Mutation SNP C G G TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr9:77377111C>G uc004ajl.1 - 26 4714 c.4476G>C c.(4474-4476)AAG>AAC p.K1492N TRPM6_uc004ajk.1_Missense_Mutation_p.K1487N|TRPM6_uc010mpb.1_RNA|TRPM6_uc010mpc.1_Intron|TRPM6_uc010mpd.1_Intron|TRPM6_uc010mpe.1_Intron|TRPM6_uc004ajj.1_Missense_Mutation_p.K448N NM_017662 NP_060132 Q9BX84 TRPM6_HUMAN transient receptor potential cation channel, 1492 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 CCTGGGCCTGCTTCTGGTGCT 0.498 66 119 --- --- --- --- PASS ZNF169 169841 broad.mit.edu 37 9 97054700 97054700 + Silent SNP C G G TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr9:97054700C>G uc004aum.1 + 3 216 c.111C>G c.(109-111)ACC>ACG p.T37T ZNF169_uc004aun.2_Silent_p.T37T|ZNF169_uc004auo.2_Silent_p.T37T NM_194320 NP_919301 Q14929 ZN169_HUMAN zinc finger protein 169 37 KRAB. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2) 2 Acute lymphoblastic leukemia(62;0.136) CTCAGAGGACCCTGTACAGGG 0.522 41 101 --- --- --- --- PASS ANP32B 10541 broad.mit.edu 37 9 100756944 100756944 + Nonsense_Mutation SNP C G G TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr9:100756944C>G uc004aya.2 + 2 435 c.86C>G c.(85-87)TCA>TGA p.S29* NM_006401 NP_006392 Q92688 AN32B_HUMAN acidic (leucine-rich) nuclear phosphoprotein 32 29 LRR 1. cytoplasm|nucleus 0 Acute lymphoblastic leukemia(62;0.0559) AATTGCAAATCAAATGATGGA 0.358 65 110 --- --- --- --- PASS ALDOB 229 broad.mit.edu 37 9 104193079 104193079 + Missense_Mutation SNP G T T TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr9:104193079G>T uc004bbk.2 - 2 173 c.91C>A c.(91-93)CTG>ATG p.L31M NM_000035 NP_000026 P05062 ALDOB_HUMAN aldolase B, fructose-bisphosphate 31 fructose 1,6-bisphosphate metabolic process|fructose catabolic process|gluconeogenesis|glycolysis|NADH oxidation|positive regulation of ATPase activity|vacuolar proton-transporting V-type ATPase complex assembly centriolar satellite|cytosol ATPase binding|cytoskeletal protein binding|fructose binding|fructose-bisphosphate aldolase activity|identical protein binding skin(1) 1 Acute lymphoblastic leukemia(62;0.0559) TCTGCAGCCAGGATCCCCTTT 0.433 26 75 --- --- --- --- PASS ZNF462 58499 broad.mit.edu 37 9 109686536 109686536 + Missense_Mutation SNP C A A TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr9:109686536C>A uc004bcz.2 + 3 632 c.343C>A c.(343-345)CGC>AGC p.R115S ZNF462_uc010mto.2_5'UTR|ZNF462_uc004bda.2_5'UTR NM_021224 NP_067047 Q96JM2 ZN462_HUMAN zinc finger protein 462 115 C2H2-type 2. transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(5) 5 GTTCTGTGTACGCTACTTCAG 0.473 44 103 --- --- --- --- PASS C9orf91 203197 broad.mit.edu 37 9 117400949 117400949 + Silent SNP C T T TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr9:117400949C>T uc004bjd.3 + 8 1009 c.792C>T c.(790-792)AAC>AAT p.N264N C9orf91_uc004bje.3_Silent_p.N243N|C9orf91_uc004bjf.3_Silent_p.N163N NM_153045 NP_694590 Q5VZI3 CI091_HUMAN hypothetical protein LOC203197 264 integral to membrane pancreas(1) 1 CTTGTCCTAACGAGAGGCCAC 0.592 20 109 --- --- --- --- PASS TRIM32 22954 broad.mit.edu 37 9 119460833 119460833 + Missense_Mutation SNP G A A TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr9:119460833G>A uc004bjx.2 + 2 970 c.812G>A c.(811-813)CGG>CAG p.R271Q ASTN2_uc004bjr.1_Intron|ASTN2_uc004bjs.1_Intron|ASTN2_uc004bjt.1_Intron|TRIM32_uc004bjw.2_Missense_Mutation_p.R271Q NM_001099679 NP_001093149 Q13049 TRI32_HUMAN tripartite motif-containing 32 271 fat cell differentiation|innate immune response|negative regulation of apoptosis|negative regulation of fibroblast proliferation|positive regulation of cell cycle|positive regulation of cell growth|positive regulation of cell migration|positive regulation of neurogenesis|positive regulation of neuron differentiation|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein catabolic process|positive regulation of proteolysis|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to tumor necrosis factor|response to UV nucleus myosin binding|protein self-association|RNA binding|Tat protein binding|transcription coactivator activity|translation initiation factor binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding central_nervous_system(2)|kidney(1) 3 AGCTTGCCTCGGGAGCTCACC 0.552 Bardet-Biedl_syndrome 23 56 --- --- --- --- PASS C9orf119 375757 broad.mit.edu 37 9 131048234 131048234 + Nonsense_Mutation SNP G T T TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr9:131048234G>T uc004bup.2 + 4 565 c.565G>T c.(565-567)GAA>TAA p.E189* C9orf119_uc010mxx.1_Nonsense_Mutation_p.E189* NM_001040011 NP_001035100 Q1ZZU3 SWI5_HUMAN hypothetical protein LOC375757 189 double-strand break repair via homologous recombination Swi5-Sfr1 complex protein binding 0 CAGTGTGGATGAACTGGAGGA 0.483 16 35 --- --- --- --- PASS SEC16A 9919 broad.mit.edu 37 9 139353940 139353940 + Silent SNP G A A TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr9:139353940G>A uc004chx.2 - 16 5568 c.5259C>T c.(5257-5259)TAC>TAT p.Y1753Y SEC16A_uc004chu.2_5'Flank|SEC16A_uc004chv.3_Silent_p.Y1143Y|SEC16A_uc004chw.2_Silent_p.Y1753Y|SEC16A_uc010nbn.2_Silent_p.Y1753Y NM_014866 NP_055681 O15027 SC16A_HUMAN SEC16 homolog A 1575 protein transport|vesicle-mediated transport endoplasmic reticulum membrane|Golgi membrane 0 Myeloproliferative disorder(178;0.0511) Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06) TTTTCTTCGTGTAAACACCAA 0.493 10 24 --- --- --- --- PASS NOTCH1 4851 broad.mit.edu 37 9 139391559 139391559 + Nonsense_Mutation SNP G C C TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr9:139391559G>C uc004chz.2 - 34 6632 c.6632C>G c.(6631-6633)TCA>TGA p.S2211* NM_017617 NP_060087 P46531 NOTC1_HUMAN notch1 preproprotein 2211 Cytoplasmic (Potential). aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity haematopoietic_and_lymphoid_tissue(791)|upper_aerodigestive_tract(29)|lung(13)|central_nervous_system(10)|breast(9)|large_intestine(1)|skin(1)|oesophagus(1)|pancreas(1) 856 all_cancers(76;0.223) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06) GGCCACGTCTGACAGGTAGCC 0.682 T|Mis|O TRB@ T-ALL HNSCC(8;0.001) 25 43 --- --- --- --- PASS C9orf173 441476 broad.mit.edu 37 9 140146913 140146913 + Missense_Mutation SNP A C C TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr9:140146913A>C uc004cmk.1 + 4 437 c.425A>C c.(424-426)CAG>CCG p.Q142P C9orf173_uc004cmj.1_Missense_Mutation_p.Q143P|C9orf173_uc011meu.1_RNA|C9orf173_uc010ncd.1_RNA|C9orf173_uc011mev.1_Missense_Mutation_p.Q142P|C9orf173_uc004cml.1_Missense_Mutation_p.Q142P|COBRA1_uc004cmm.3_5'Flank Q8N7X2 CI173_HUMAN SubName: Full=LOC441476 protein; 143 pancreas(1) 1 AGGGCATGGCAGACTTTGTGG 0.627 6 15 --- --- --- --- PASS MPP7 143098 broad.mit.edu 37 10 28420572 28420572 + Missense_Mutation SNP C A A TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr10:28420572C>A uc001iua.1 - 8 768 c.364G>T c.(364-366)GTG>TTG p.V122L MPP7_uc009xkz.1_RNA|MPP7_uc001iub.1_Missense_Mutation_p.V122L|MPP7_uc009xla.2_Missense_Mutation_p.V122L|MPP7_uc010qdv.1_RNA NM_173496 NP_775767 Q5T2T1 MPP7_HUMAN palmitoylated membrane protein 7 122 L27 2. establishment of cell polarity|positive regulation of protein complex assembly|protein localization to adherens junction|tight junction assembly MPP7-DLG1-LIN7 complex|tight junction protein complex scaffold|protein domain specific binding|protein heterodimerization activity|signaling adaptor activity ovary(1) 1 GGAGGCAACACTGGGTCGTAA 0.353 33 123 --- --- --- --- PASS ANKRD30A 91074 broad.mit.edu 37 10 37506638 37506638 + Silent SNP A G G TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr10:37506638A>G uc001iza.1 + 33 3030 c.2931A>G c.(2929-2931)CAA>CAG p.Q977Q NM_052997 NP_443723 Q9BXX3 AN30A_HUMAN ankyrin repeat domain 30A 1033 Potential. nucleus DNA binding|sequence-specific DNA binding transcription factor activity ovary(7)|breast(1)|skin(1) 9 CTTTAAACCAAGAAGAAGAGA 0.294 7 27 --- --- --- --- PASS C10orf72 196740 broad.mit.edu 37 10 50315656 50315656 + Nonsense_Mutation SNP G T T TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr10:50315656G>T uc001jhf.2 - 2 469 c.440C>A c.(439-441)TCA>TAA p.S147* C10orf72_uc001jhh.2_Nonsense_Mutation_p.S147* NM_001031746 NP_001026916 Q8IW00 CJ072_HUMAN hypothetical protein LOC196740 isoform 1 147 Ig-like.|Extracellular (Potential). integral to membrane|plasma membrane 0 TTCCGTGGCTGAGGAGCCATT 0.617 30 63 --- --- --- --- PASS C10orf72 196740 broad.mit.edu 37 10 50316010 50316010 + Missense_Mutation SNP G A A TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr10:50316010G>A uc001jhf.2 - 2 115 c.86C>T c.(85-87)TCC>TTC p.S29F C10orf72_uc001jhh.2_Missense_Mutation_p.S29F NM_001031746 NP_001026916 Q8IW00 CJ072_HUMAN hypothetical protein LOC196740 isoform 1 29 Ig-like.|Extracellular (Potential). integral to membrane|plasma membrane 0 GGGCCCCGGGGACACAGTGAC 0.627 5 13 --- --- --- --- PASS ASAH2 56624 broad.mit.edu 37 10 52005154 52005154 + Missense_Mutation SNP G C C TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr10:52005154G>C uc001jjd.2 - 2 188 c.188C>G c.(187-189)GCT>GGT p.A63G ASAH2_uc009xos.2_Missense_Mutation_p.A63G NM_019893 NP_063946 Q9NR71 ASAH2_HUMAN N-acylsphingosine amidohydrolase 2 isoform a 63 Lumenal (Potential). apoptosis|ceramide metabolic process|signal transduction integral to membrane|mitochondrion|plasma membrane ceramidase activity 0 GCGTTGGGCAGCTGTGGAGCC 0.507 18 86 --- --- --- --- PASS PCDH15 65217 broad.mit.edu 37 10 55826581 55826581 + Missense_Mutation SNP G T T TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr10:55826581G>T uc001jju.1 - 18 2551 c.2156C>A c.(2155-2157)CCT>CAT p.P719H PCDH15_uc010qhq.1_Missense_Mutation_p.P724H|PCDH15_uc010qhr.1_Missense_Mutation_p.P719H|PCDH15_uc010qhs.1_Missense_Mutation_p.P731H|PCDH15_uc010qht.1_Missense_Mutation_p.P726H|PCDH15_uc010qhu.1_Missense_Mutation_p.P719H|PCDH15_uc001jjv.1_Missense_Mutation_p.P697H|PCDH15_uc010qhv.1_Missense_Mutation_p.P719H|PCDH15_uc010qhw.1_Missense_Mutation_p.P682H|PCDH15_uc010qhx.1_Missense_Mutation_p.P648H|PCDH15_uc010qhy.1_Missense_Mutation_p.P724H|PCDH15_uc010qhz.1_Missense_Mutation_p.P719H|PCDH15_uc010qia.1_Missense_Mutation_p.P697H|PCDH15_uc010qib.1_Missense_Mutation_p.P697H|PCDH15_uc001jjw.2_Missense_Mutation_p.P719H NM_033056 NP_149045 Q96QU1 PCD15_HUMAN protocadherin 15 isoform CD1-4 precursor 719 Extracellular (Potential).|Cadherin 7. equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2) 13 Melanoma(3;0.117)|Lung SC(717;0.238) TGGCAGATAAGGATCAAACAC 0.368 HNSCC(58;0.16) 26 79 --- --- --- --- PASS TFAM 7019 broad.mit.edu 37 10 60150600 60150600 + Missense_Mutation SNP G T T TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr10:60150600G>T uc001jkf.2 + 5 649 c.517G>T c.(517-519)GCT>TCT p.A173S TFAM_uc001jkg.2_RNA|TFAM_uc001jkh.2_Intron NM_003201 NP_003192 Q00059 TFAM_HUMAN transcription factor A, mitochondrial precursor 173 HMG box 2. DNA-dependent DNA replication|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase I promoter|transcription initiation from mitochondrial promoter mitochondrial nucleoid mitochondrial light strand promoter sense binding|protein binding|sequence-specific DNA binding transcription factor activity 0 ATTCCAAGAAGCTAAGGGTGA 0.348 20 43 --- --- --- --- PASS CDH23 64072 broad.mit.edu 37 10 73461826 73461826 + Nonsense_Mutation SNP C A A TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr10:73461826C>A uc001jrx.3 + 22 2822 c.2445C>A c.(2443-2445)TAC>TAA p.Y815* CDH23_uc001jry.2_Nonsense_Mutation_p.Y431*|CDH23_uc001jrz.2_Nonsense_Mutation_p.Y431* NM_022124 NP_071407 Q9H251 CAD23_HUMAN cadherin-like 23 isoform 1 precursor 815 Cadherin 8.|Extracellular (Potential). calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound cytosol|integral to membrane|plasma membrane|stereocilium calcium ion binding|protein binding central_nervous_system(5)|large_intestine(4)|ovary(2) 11 CCCTGGTGTACAGCATCCAGC 0.652 3 64 --- --- --- --- PASS GRID1 2894 broad.mit.edu 37 10 87628773 87628773 + Missense_Mutation SNP C A A TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr10:87628773C>A uc001kdl.1 - 6 1046 c.945G>T c.(943-945)ATG>ATT p.M315I GRID1_uc009xsu.1_RNA NM_017551 NP_060021 Q9ULK0 GRID1_HUMAN glutamate receptor, ionotropic, delta 1 315 Extracellular (Potential). cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity ovary(5)|upper_aerodigestive_tract(2)|large_intestine(2)|central_nervous_system(1) 10 L-Glutamic Acid(DB00142) TGACCTGCAGCATCTGGAGGT 0.582 Multiple Myeloma(13;0.14) 24 55 --- --- --- --- PASS PAPSS2 9060 broad.mit.edu 37 10 89503199 89503199 + Missense_Mutation SNP G A A TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr10:89503199G>A uc001kex.2 + 10 1540 c.1277G>A c.(1276-1278)CGC>CAC p.R426H PAPSS2_uc001kew.2_Missense_Mutation_p.R431H NM_004670 NP_004661 O95340 PAPS2_HUMAN 3'-phosphoadenosine 5'-phosphosulfate synthase 2 426 Adenylyl-sulfate kinase. R -> C (in Ref. 1; AAC64583). 3'-phosphoadenosine 5'-phosphosulfate biosynthetic process|skeletal system development|sulfate assimilation|xenobiotic metabolic process cytosol adenylylsulfate kinase activity|ATP binding|protein binding|sulfate adenylyltransferase (ATP) activity central_nervous_system(1)|skin(1) 2 Melanoma(5;0.019)|Colorectal(252;0.123) UCEC - Uterine corpus endometrioid carcinoma (6;0.00164)|Colorectal(12;0.000323)|COAD - Colon adenocarcinoma(12;0.00124) CAGGACACTCGCCGCAGGCTC 0.582 41 125 --- --- --- --- PASS TNKS2 80351 broad.mit.edu 37 10 93619220 93619220 + Silent SNP G T T TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr10:93619220G>T uc001khp.2 + 25 3393 c.3096G>T c.(3094-3096)GGG>GGT p.G1032G NM_025235 NP_079511 Q9H2K2 TNKS2_HUMAN tankyrase, TRF1-interacting ankyrin-related 1032 PARP catalytic. positive regulation of canonical Wnt receptor signaling pathway|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein polyubiquitination|Wnt receptor signaling pathway Golgi membrane|microsome|nuclear envelope|pericentriolar material|perinuclear region of cytoplasm NAD+ ADP-ribosyltransferase activity|protein binding kidney(3)|skin(3)|ovary(1)|lung(1) 8 Colorectal(252;0.162) GTGTTTCAGGGTCTCCTTTTG 0.313 33 114 --- --- --- --- PASS CYP2C9 1559 broad.mit.edu 37 10 96701714 96701714 + Missense_Mutation SNP C G G TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr10:96701714C>G uc001kka.3 + 2 293 c.268C>G c.(268-270)CTT>GTT p.L90V CYP2C9_uc009xut.2_Missense_Mutation_p.L90V|CYP2C9_uc001kjz.2_Missense_Mutation_p.L90V NM_000771 NP_000762 P11712 CP2C9_HUMAN cytochrome P450, family 2, subfamily C, 90 exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome (S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity skin(4)|ovary(2) 6 Colorectal(252;0.0902) all cancers(201;6.93e-05) Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744) CCTGATTGATCTTGGAGAGGA 0.483 54 170 --- --- --- --- PASS TLL2 7093 broad.mit.edu 37 10 98127941 98127941 + Missense_Mutation SNP C T T TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr10:98127941C>T uc001kml.1 - 21 3178 c.2952G>A c.(2950-2952)ATG>ATA p.M984I NM_012465 NP_036597 Q9Y6L7 TLL2_HUMAN tolloid-like 2 precursor 984 CUB 5. cell differentiation|multicellular organismal development|proteolysis extracellular region calcium ion binding|metalloendopeptidase activity|zinc ion binding ovary(1)|pancreas(1)|skin(1) 3 Colorectal(252;0.0846) Epithelial(162;1.51e-07)|all cancers(201;7.59e-06) GGAATCGAATCATCAGGGAAT 0.458 21 89 --- --- --- --- PASS NOLC1 9221 broad.mit.edu 37 10 103920564 103920564 + Silent SNP A G G TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr10:103920564A>G uc001kuo.2 + 10 1690 c.1455A>G c.(1453-1455)ACA>ACG p.T485T NOLC1_uc001kup.2_Silent_p.T495T|NOLC1_uc001kuq.2_Silent_p.T486T|NOLC1_uc009xxb.1_Silent_p.T204T|NOLC1_uc001kur.2_Silent_p.T204T NM_004741 NP_004732 Q14978 NOLC1_HUMAN nucleolar and coiled-body phosphoprotein 1 485 Nuclear localization signal (Potential).|11 X 12 AA approximate repeats of an acidic serine cluster. mitosis|rRNA processing cytoplasm|nucleolus ATP binding|GTP binding|protein binding ovary(1) 1 Colorectal(252;0.122) Epithelial(162;5.19e-08)|all cancers(201;9.43e-07) AAGAGAAGACATCTAAGTCTG 0.537 18 62 --- --- --- --- PASS NT5C2 22978 broad.mit.edu 37 10 104849467 104849467 + Missense_Mutation SNP C T T TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr10:104849467C>T uc001kwo.2 - 19 1834 c.1648G>A c.(1648-1650)GAA>AAA p.E550K NT5C2_uc010qqp.1_Missense_Mutation_p.E521K|NT5C2_uc001kwq.2_Missense_Mutation_p.E550K|NT5C2_uc001kwp.2_Missense_Mutation_p.E397K NM_012229 NP_036361 P49902 5NTC_HUMAN 5'-nucleotidase, cytosolic II 550 Asp/Glu-rich (acidic). 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) tcatcatcttcgtcATGGCAG 0.383 35 96 --- --- --- --- PASS CALHM2 51063 broad.mit.edu 37 10 105207318 105207318 + Missense_Mutation SNP C T T TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr10:105207318C>T uc001kwz.2 - 3 949 c.563G>A c.(562-564)GGA>GAA p.G188E CALHM2_uc001kxa.2_Missense_Mutation_p.G188E|CALHM2_uc001kxc.2_Missense_Mutation_p.D184N|CALHM2_uc001kxb.2_Missense_Mutation_p.G188E NM_015916 NP_057000 Q9HA72 CAHM2_HUMAN calcium homeostasis modulator 2 188 Helical; (Potential). integral to membrane skin(1) 1 GAGCAGCCATCCAAAGAGCTG 0.597 5 25 --- --- --- --- PASS SORCS1 114815 broad.mit.edu 37 10 108366960 108366960 + Silent SNP A T T TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr10:108366960A>T uc001kym.2 - 23 3137 c.3129T>A c.(3127-3129)GCT>GCA p.A1043A SORCS1_uc001kyl.2_Silent_p.A1043A|SORCS1_uc009xxs.2_Silent_p.A1043A|SORCS1_uc001kyn.1_Silent_p.A1043A|SORCS1_uc001kyo.2_Silent_p.A1043A NM_052918 NP_443150 Q8WY21 SORC1_HUMAN SORCS receptor 1 isoform a 1043 Lumenal (Potential). integral to membrane neuropeptide receptor activity|protein binding breast(1)|central_nervous_system(1) 2 Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168) Epithelial(162;1.66e-05)|all cancers(201;0.000689) TGTTTTCTCCAGCTGGATCCT 0.532 6 95 --- --- --- --- PASS SORCS1 114815 broad.mit.edu 37 10 108716299 108716299 + Missense_Mutation SNP C A A TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr10:108716299C>A uc001kym.2 - 2 606 c.598G>T c.(598-600)GGG>TGG p.G200W SORCS1_uc001kyl.2_Missense_Mutation_p.G200W|SORCS1_uc009xxs.2_Missense_Mutation_p.G200W|SORCS1_uc001kyn.1_Missense_Mutation_p.G200W|SORCS1_uc001kyo.2_Missense_Mutation_p.G200W NM_052918 NP_443150 Q8WY21 SORC1_HUMAN SORCS receptor 1 isoform a 200 Lumenal (Potential). integral to membrane neuropeptide receptor activity|protein binding breast(1)|central_nervous_system(1) 2 Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168) Epithelial(162;1.66e-05)|all cancers(201;0.000689) GTGATGCTCCCCAGGTTATAG 0.403 22 79 --- --- --- --- PASS ATRNL1 26033 broad.mit.edu 37 10 117026389 117026389 + Missense_Mutation SNP G C C TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr10:117026389G>C uc001lcg.2 + 12 2274 c.1888G>C c.(1888-1890)GGG>CGG p.G630R NM_207303 NP_997186 Q5VV63 ATRN1_HUMAN attractin-like 1 precursor 630 PSI 1.|Kelch 6.|Extracellular (Potential). integral to membrane sugar binding ovary(5)|lung(1)|central_nervous_system(1) 7 all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234) Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827) TGCTGGTCCAGGGATAAAATG 0.363 26 112 --- --- --- --- PASS PNLIPRP3 119548 broad.mit.edu 37 10 118220599 118220599 + Splice_Site SNP T A A TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr10:118220599T>A uc001lcl.3 + 6 786 c.685_splice c.e6+2 p.G229_splice NM_001011709 NP_001011709 Q17RR3 LIPR3_HUMAN pancreatic lipase-related protein 3 precursor lipid catabolic process extracellular region triglyceride lipase activity ovary(1) 1 all cancers(201;0.0131) TTGAGCTTGGTAAGTTTTAAC 0.398 55 144 --- --- --- --- PASS DHX32 55760 broad.mit.edu 37 10 127542766 127542766 + Missense_Mutation SNP C T T TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr10:127542766C>T uc001ljf.1 - 4 1347 c.856G>A c.(856-858)GAG>AAG p.E286K DHX32_uc001lje.1_5'UTR|DHX32_uc001ljg.1_Missense_Mutation_p.E286K|DHX32_uc009yam.1_Intron NM_018180 NP_060650 Q7L7V1 DHX32_HUMAN DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 32 286 mitochondrion|nucleus ATP binding|helicase activity breast(2)|ovary(1)|lung(1) 4 all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936) CAGACTTTCTCAATATCCTAA 0.303 9 57 --- --- --- --- PASS MUC5B 727897 broad.mit.edu 37 11 1257660 1257660 + Silent SNP G A A TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr11:1257660G>A uc009ycr.1 + 40 5130 c.5004G>A c.(5002-5004)GCG>GCA p.A1668A MUC5B_uc009yct.1_Silent_p.A975A|MUC5B_uc001ltb.2_Silent_p.A978A|MUC5B_uc001lta.2_Silent_p.A643A NM_017511 NP_059981 Q9HC84 MUC5B_HUMAN SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming; 975 VWFD 3. 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) AGGCGGTGGCGAGAGGGCCGG 0.662 23 60 --- --- --- --- PASS BRSK2 9024 broad.mit.edu 37 11 1467049 1467049 + Missense_Mutation SNP C T T TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr11:1467049C>T uc001lti.2 + 12 1524 c.1138C>T c.(1138-1140)CGC>TGC p.R380C BRSK2_uc009ycv.1_Missense_Mutation_p.R380C|BRSK2_uc001lth.1_Missense_Mutation_p.R380C|BRSK2_uc001ltj.2_Missense_Mutation_p.R380C|BRSK2_uc001ltk.2_RNA|BRSK2_uc001ltl.2_Missense_Mutation_p.R380C|BRSK2_uc001ltm.2_Missense_Mutation_p.R426C|BRSK2_uc001ltn.2_RNA|BRSK2_uc010qwx.1_RNA NM_003957 NP_003948 Q8IWQ3 BRSK2_HUMAN BR serine/threonine kinase 2 380 establishment of cell polarity|neuron differentiation ATP binding|magnesium ion binding|protein serine/threonine kinase activity 0 all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00144)|Lung(200;0.0713)|LUSC - Lung squamous cell carcinoma(625;0.0842) GCGGCCAGAACGCAAATCCAT 0.687 14 25 --- --- --- --- PASS UBQLN3 50613 broad.mit.edu 37 11 5529258 5529258 + Missense_Mutation SNP G A A TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr11:5529258G>A uc001may.1 - 2 1617 c.1531C>T c.(1531-1533)CTT>TTT p.L511F HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_5'Flank|OR51B5_uc001maq.1_5'Flank NM_017481 NP_059509 Q9H347 UBQL3_HUMAN ubiquilin 3 511 ovary(3) 3 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GCTGCCTGAAGGTGCATCAGC 0.577 14 42 --- --- --- --- PASS APBB1 322 broad.mit.edu 37 11 6423837 6423837 + Missense_Mutation SNP A G G TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr11:6423837A>G uc001mdb.1 - 7 1323 c.1223T>C c.(1222-1224)CTG>CCG p.L408P APBB1_uc001mcz.1_Missense_Mutation_p.L29P|APBB1_uc001mdd.3_Missense_Mutation_p.L188P|APBB1_uc001mda.2_Intron|APBB1_uc001mdc.1_Missense_Mutation_p.L408P|APBB1_uc010rab.1_5'Flank|APBB1_uc010rac.1_5'Flank|APBB1_uc010rad.1_Missense_Mutation_p.L29P|APBB1_uc010rae.1_Missense_Mutation_p.L173P|APBB1_uc010raf.1_Missense_Mutation_p.L149P|APBB1_uc009yfa.2_Missense_Mutation_p.L149P|APBB1_uc009yey.2_Missense_Mutation_p.L149P|APBB1_uc010rag.1_Missense_Mutation_p.L149P|APBB1_uc009yfb.2_Missense_Mutation_p.L149P|APBB1_uc001mde.2_Missense_Mutation_p.L149P|APBB1_uc010rah.1_Missense_Mutation_p.L149P NM_001164 NP_001155 O00213 APBB1_HUMAN amyloid beta A4 precursor protein-binding, 408 PID 1. apoptosis|axonogenesis|cell cycle arrest|histone H4 acetylation|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of thymidylate synthase biosynthetic process|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|signal transduction|transcription, DNA-dependent cytoplasm|growth cone|lamellipodium|nucleus|plasma membrane|synapse beta-amyloid binding|chromatin binding|histone binding|proline-rich region binding|transcription factor binding breast(2) 2 Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029) Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194) GGGGTCATGCAGGTTGTTTTT 0.577 17 64 --- --- --- --- PASS OR2D2 120776 broad.mit.edu 37 11 6912971 6912971 + Missense_Mutation SNP G A A TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr11:6912971G>A uc010rau.1 - 1 761 c.761C>T c.(760-762)TCA>TTA p.S254L NM_003700 NP_003691 Q9H210 OR2D2_HUMAN olfactory receptor, family 2, subfamily D, 254 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|skin(1) 2 Medulloblastoma(188;0.0523)|all_neural(188;0.236) Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) GATAATTGCTGATCCATAAAA 0.433 17 49 --- --- --- --- PASS OVCH2 341277 broad.mit.edu 37 11 7723862 7723862 + Missense_Mutation SNP G T T TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr11:7723862G>T uc010rbf.1 - 4 305 c.305C>A c.(304-306)ACT>AAT p.T102N NM_198185 NP_937828 ovochymase 2 precursor 0 Epithelial(150;7.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.197) AACATTCAAAGTAGACACAAT 0.388 5 19 --- --- --- --- PASS DENND5A 23258 broad.mit.edu 37 11 9225228 9225228 + Missense_Mutation SNP G T T TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr11:9225228G>T uc001mhl.2 - 4 1183 c.928C>A c.(928-930)CAA>AAA p.Q310K DENND5A_uc010rbw.1_Missense_Mutation_p.Q310K|DENND5A_uc010rbx.1_RNA NM_015213 NP_056028 Q6IQ26 DEN5A_HUMAN RAB6 interacting protein 1 310 DENN. liver(1) 1 AGCAGGATTTGAAACTCCAGA 0.468 22 68 --- --- --- --- PASS ANO5 203859 broad.mit.edu 37 11 22225351 22225351 + Silent SNP G T T TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr11:22225351G>T uc001mqi.2 + 2 359 c.42G>T c.(40-42)GGG>GGT p.G14G ANO5_uc001mqj.2_Silent_p.G14G NM_213599 NP_998764 Q75V66 ANO5_HUMAN anoctamin 5 isoform a 14 Cytoplasmic (Potential). chloride channel complex|endoplasmic reticulum membrane chloride channel activity central_nervous_system(3)|ovary(1) 4 TTAATTTAGGGGAAAAAGTCA 0.269 4 21 --- --- --- --- PASS RAG2 5897 broad.mit.edu 37 11 36614281 36614281 + Missense_Mutation SNP C G G TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr11:36614281C>G uc001mwv.3 - 2 1626 c.1438G>C c.(1438-1440)GAG>CAG p.E480Q RAG1_uc001mwt.2_Intron|C11orf74_uc010rfd.1_5'Flank|C11orf74_uc001mww.1_5'Flank|C11orf74_uc001mwx.1_5'Flank|C11orf74_uc001mwy.1_5'Flank|C11orf74_uc001mwz.1_5'Flank|C11orf74_uc010rfe.1_5'Flank NM_000536 NP_000527 P55895 RAG2_HUMAN recombination activating gene 2 480 PHD-type; atypical. chromatin modification|pre-B cell allelic exclusion|somatic diversification of immunoglobulins|T cell differentiation in thymus|V(D)J recombination nucleus chromatin binding|DNA binding|endonuclease activity|methylated histone residue binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|zinc ion binding skin(3)|ovary(1)|pancreas(1) 5 all_lung(20;0.226) all_hematologic(20;0.00756) TCCACATGCTCATTGCAGTAA 0.478 Familial_Hemophagocytic_Lymphohistiocytosis 50 98 --- --- --- --- PASS TTC17 55761 broad.mit.edu 37 11 43421578 43421578 + Missense_Mutation SNP T C C TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr11:43421578T>C uc001mxi.2 + 9 1213 c.1199T>C c.(1198-1200)ATG>ACG p.M400T TTC17_uc001mxh.2_Missense_Mutation_p.M400T|TTC17_uc010rfj.1_Missense_Mutation_p.M343T|TTC17_uc001mxj.2_Missense_Mutation_p.M170T NM_018259 NP_060729 Q96AE7 TTC17_HUMAN tetratricopeptide repeat domain 17 400 binding ovary(5) 5 GAGACTCAGATGGCAAAAGAG 0.373 25 77 --- --- --- --- PASS KIAA0652 9776 broad.mit.edu 37 11 46689361 46689361 + Missense_Mutation SNP G T T TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr11:46689361G>T uc009yld.2 + 14 1760 c.1076G>T c.(1075-1077)CGG>CTG p.R359L KIAA0652_uc001nda.2_Missense_Mutation_p.R392L|KIAA0652_uc001ndb.2_Missense_Mutation_p.R359L|KIAA0652_uc001ncz.2_Missense_Mutation_p.R322L|KIAA0652_uc001ndc.2_Missense_Mutation_p.R322L|KIAA0652_uc010rgv.1_Missense_Mutation_p.R243L NM_001142673 NP_001136145 O75143 ATG13_HUMAN autophagy-related protein 13 isoform 1 359 autophagic vacuole assembly cytosol|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex protein binding 0 GBM - Glioblastoma multiforme(35;0.226) AGTGAGGGACGGGCCTCCCCT 0.493 23 79 --- --- --- --- PASS OR4A47 403253 broad.mit.edu 37 11 48510827 48510827 + Silent SNP T C C TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr11:48510827T>C uc010rhx.1 + 1 483 c.483T>C c.(481-483)ATT>ATC p.I161I NM_001005512 NP_001005512 Q6IF82 O4A47_HUMAN olfactory receptor, family 4, subfamily A, 161 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 TTAGCATTATTTATGGGCTCC 0.438 56 168 --- --- --- --- PASS OR4C46 119749 broad.mit.edu 37 11 51515935 51515935 + Silent SNP C A A TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr11:51515935C>A uc010ric.1 + 1 654 c.654C>A c.(652-654)GTC>GTA p.V218V NM_001004703 NP_001004703 A6NHA9 O4C46_HUMAN olfactory receptor, family 4, subfamily C, 218 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 CCTATGTGGTCATCTTGTGCT 0.507 30 81 --- --- --- --- PASS OR4C6 219432 broad.mit.edu 37 11 55432813 55432813 + Missense_Mutation SNP G C C TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr11:55432813G>C uc001nht.3 + 3 436 c.171G>C c.(169-171)ATG>ATC p.M57I OR4C6_uc010rik.1_Missense_Mutation_p.M57I NM_001004704 NP_001004704 Q8NH72 OR4C6_HUMAN olfactory receptor, family 4, subfamily C, 57 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 GGTCACCTATGTATTTTTTTC 0.413 50 220 --- --- --- --- PASS OR5D18 219438 broad.mit.edu 37 11 55587148 55587148 + Missense_Mutation SNP C T T TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr11:55587148C>T uc010rin.1 + 1 43 c.43C>T c.(43-45)CTC>TTC p.L15F NM_001001952 NP_001001952 Q8NGL1 OR5DI_HUMAN olfactory receptor, family 5, subfamily D, 15 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|ovary(1) 3 all_epithelial(135;0.208) CACGTTCACCCTCTTGGGCTT 0.428 19 75 --- --- --- --- PASS SPRYD5 84767 broad.mit.edu 37 11 55657463 55657463 + Missense_Mutation SNP G T T TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr11:55657463G>T uc010rip.1 + 6 899 c.807G>T c.(805-807)GAG>GAT p.E269D SPRYD5_uc010riq.1_Missense_Mutation_p.E126D NM_032681 NP_116070 Q9BSJ1 SPRY5_HUMAN SPRY domain containing 5 269 B30.2/SPRY. intracellular zinc ion binding 0 all_epithelial(135;0.226) TGAATCCAGAGCTCAGTGCAG 0.478 17 55 --- --- --- --- PASS OR5W2 390148 broad.mit.edu 37 11 55681710 55681710 + Missense_Mutation SNP C T T TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr11:55681710C>T uc010rir.1 - 1 349 c.349G>A c.(349-351)GTG>ATG p.V117M NM_001001960 NP_001001960 Q8NH69 OR5W2_HUMAN olfactory receptor, family 5, subfamily W, 117 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 AAGGCCATCACTGACAGCAGT 0.453 22 62 --- --- --- --- PASS OR8J3 81168 broad.mit.edu 37 11 55904298 55904298 + Silent SNP A G G TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr11:55904298A>G uc010riz.1 - 1 897 c.897T>C c.(895-897)GTT>GTC p.V299V NM_001004064 NP_001004064 Q8NGG0 OR8J3_HUMAN olfactory receptor, family 8, subfamily J, 299 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 Esophageal squamous(21;0.00693) TCTTTAAGGCAACATTTACAT 0.343 28 70 --- --- --- --- PASS OR5T2 219464 broad.mit.edu 37 11 56000245 56000245 + Missense_Mutation SNP C A A TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr11:56000245C>A uc010rjc.1 - 1 417 c.417G>T c.(415-417)CAG>CAT p.Q139H NM_001004746 NP_001004746 Q8NGG2 OR5T2_HUMAN olfactory receptor, family 5, subfamily T, 139 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2) 2 Esophageal squamous(21;0.00448) CAAGAAACACCTGTGCTACAC 0.408 45 119 --- --- --- --- PASS OR5M11 219487 broad.mit.edu 37 11 56310013 56310013 + Missense_Mutation SNP C A A TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr11:56310013C>A uc010rjl.1 - 1 721 c.721G>T c.(721-723)GGT>TGT p.G241C NM_001005245 NP_001005245 Q96RB7 OR5MB_HUMAN olfactory receptor, family 5, subfamily M, 241 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 ATATGGGAACCACAGGTGGAG 0.468 24 80 --- --- --- --- PASS PCNXL3 399909 broad.mit.edu 37 11 65394885 65394885 + Silent SNP G T T TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr11:65394885G>T uc001oey.2 + 22 3534 c.3534G>T c.(3532-3534)GCG>GCT p.A1178A PCNXL3_uc001oez.2_Silent_p.A65A NM_032223 NP_115599 Q9H6A9 PCX3_HUMAN pecanex-like 3 1178 integral to membrane 0 GCTGCCGGGCGCTGCTGATGA 0.662 10 67 --- --- --- --- PASS PC 5091 broad.mit.edu 37 11 66618590 66618590 + Missense_Mutation SNP C T T TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr11:66618590C>T uc001ojn.1 - 15 2193 c.2144G>A c.(2143-2145)CGC>CAC p.R715H PC_uc001ojo.1_Missense_Mutation_p.R715H|PC_uc001ojp.1_Missense_Mutation_p.R715H|PC_uc001ojm.1_5'Flank NM_022172 NP_071504 P11498 PYC_HUMAN pyruvate carboxylase precursor 715 Carboxyltransferase. gluconeogenesis|lipid biosynthetic process mitochondrial matrix ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity ovary(2)|lung(1)|kidney(1) 4 Melanoma(852;0.0525) Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227) Biotin(DB00121)|Pyruvic acid(DB00119) GTACTTGGTGCGGCTGGGGTC 0.632 15 81 --- --- --- --- PASS PRKRIR 5612 broad.mit.edu 37 11 76062891 76062891 + Missense_Mutation SNP C G G TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr11:76062891C>G uc001oxh.1 - 5 1303 c.1303G>C c.(1303-1305)GAA>CAA p.E435Q PRKRIR_uc010rrz.1_Missense_Mutation_p.E260Q NM_004705 NP_004696 O43422 P52K_HUMAN protein-kinase, interferon-inducible double 435 negative regulation of cell proliferation|response to stress|signal transduction DNA binding|metal ion binding|protein dimerization activity ovary(2)|pancreas(1) 3 ACTAAAATTTCAAAAGCATCA 0.368 12 101 --- --- --- --- PASS NAALAD2 10003 broad.mit.edu 37 11 89907064 89907064 + Nonsense_Mutation SNP G T T TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr11:89907064G>T uc001pdf.3 + 14 1592 c.1483G>T c.(1483-1485)GAA>TAA p.E495* NAALAD2_uc009yvx.2_Nonsense_Mutation_p.E462*|NAALAD2_uc009yvy.2_Intron NM_005467 NP_005458 Q9Y3Q0 NALD2_HUMAN N-acetylated alpha-linked acidic dipeptidase 2 495 Extracellular (Potential).|NAALADase. proteolysis integral to membrane carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity pancreas(1)|skin(1) 2 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556) CCCTTCACCTGAAAATAAAAA 0.388 32 244 --- --- --- --- PASS FAT3 120114 broad.mit.edu 37 11 92534346 92534346 + Missense_Mutation SNP A C C TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr11:92534346A>C uc001pdj.3 + 9 8184 c.8167A>C c.(8167-8169)ATT>CTT p.I2723L NM_001008781 NP_001008781 Q8TDW7 FAT3_HUMAN FAT tumor suppressor homolog 3 2723 Extracellular (Potential).|Cadherin 25. homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding ovary(4)|pancreas(1) 5 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) AGATACAGCCATTGGGAGTAC 0.478 TCGA Ovarian(4;0.039) 3 94 --- --- --- --- PASS KDM4D 55693 broad.mit.edu 37 11 94730904 94730904 + Missense_Mutation SNP G C C TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr11:94730904G>C uc001pfe.2 + 3 1200 c.368G>C c.(367-369)CGA>CCA p.R123P NM_018039 NP_060509 Q6B0I6 KDM4D_HUMAN jumonji domain containing 2D 123 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen 0 GATTTGGAGCGAAAATACTGG 0.408 27 199 --- --- --- --- PASS USP28 57646 broad.mit.edu 37 11 113679872 113679872 + Missense_Mutation SNP C G G TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr11:113679872C>G uc001poh.2 - 17 2110 c.2077G>C c.(2077-2079)GAG>CAG p.E693Q USP28_uc001pog.2_Missense_Mutation_p.E401Q|USP28_uc010rwy.1_Missense_Mutation_p.E568Q|USP28_uc001poi.2_Missense_Mutation_p.E48Q NM_020886 NP_065937 Q96RU2 UBP28_HUMAN ubiquitin specific protease 28 693 cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process nucleolus|nucleoplasm protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity lung(2)|breast(2)|ovary(1)|large_intestine(1)|kidney(1) 7 all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425) BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104) TCCCACTCCTCTACTTCCTGC 0.473 120 653 --- --- --- --- PASS HTR3B 9177 broad.mit.edu 37 11 113815332 113815332 + Silent SNP C G G TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr11:113815332C>G uc001pok.2 + 8 1012 c.945C>G c.(943-945)CTC>CTG p.L315L HTR3B_uc001pol.2_Silent_p.L304L NM_006028 NP_006019 O95264 5HT3B_HUMAN 5-hydroxytryptamine (serotonin) receptor 3B 315 Helical; Name=3; (Potential). synaptic transmission integral to plasma membrane|postsynaptic membrane serotonin receptor activity|serotonin-activated cation-selective channel activity 0 all_cancers(61;6.81e-18)|all_epithelial(67;6.67e-11)|all_hematologic(158;4.67e-05)|Melanoma(852;0.000316)|Acute lymphoblastic leukemia(157;0.000976)|Breast(348;0.0101)|Prostate(24;0.0154)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425) BRCA - Breast invasive adenocarcinoma(274;3.04e-06)|Epithelial(105;1.98e-05)|all cancers(92;0.000201)|OV - Ovarian serous cystadenocarcinoma(223;0.151) TCTTGGTTCTCAGCTTAGCTA 0.512 13 125 --- --- --- --- PASS FAM55D 54827 broad.mit.edu 37 11 114453569 114453569 + Missense_Mutation SNP C A A TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr11:114453569C>A uc001ppc.2 - 3 452 c.271G>T c.(271-273)GTG>TTG p.V91L FAM55D_uc001ppd.2_5'UTR NM_001077639 NP_001071107 Q6UWF7 FA55D_HUMAN hypothetical protein LOC54827 isoform 1 91 extracellular region ovary(2)|skin(2) 4 all_cancers(61;8.53e-16)|all_epithelial(67;1.71e-08)|all_hematologic(158;3.05e-05)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0194)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906) BRCA - Breast invasive adenocarcinoma(274;2.82e-06)|Epithelial(105;0.000129)|all cancers(92;0.000938) GTGGTGTTCACGTGGGTGAAA 0.507 202 176 --- --- --- --- PASS MLL 4297 broad.mit.edu 37 11 118390362 118390362 + Missense_Mutation SNP C G G TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr11:118390362C>G uc001pta.2 + 32 11190 c.11167C>G c.(11167-11169)CTC>GTC p.L3723V MLL_uc001ptb.2_Missense_Mutation_p.L3726V NM_005933 NP_005924 Q03164 MLL1_HUMAN myeloid/lymphoid or mixed-lineage leukemia 3723 FYR C-terminal. apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter MLL1 complex AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding lung(7)|ovary(5)|kidney(5)|central_nervous_system(3)|pancreas(2)|urinary_tract(1)|breast(1)|skin(1) 25 all_hematologic(175;0.046) all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244) OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144) GCTGGGGATTCTCCATGATGC 0.493 T|O MLL|MLLT1|MLLT2|MLLT3|MLLT4|MLLT7|MLLT10|MLLT6|ELL|EPS15|AF1Q|CREBBP|SH3GL1|FNBP1|PNUTL1|MSF|GPHN|GMPS|SSH3BP1|ARHGEF12|GAS7|FOXO3A|LAF4|LCX|SEPT6|LPP|CBFA2T1|GRAF|EP300|PICALM|HEAB AML|ALL 40 239 --- --- --- --- PASS HSPA8 3312 broad.mit.edu 37 11 122931507 122931507 + Splice_Site SNP C G G TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr11:122931507C>G uc001pyo.2 - 3 284 c.206_splice c.e3-1 p.D69_splice HSPA8_uc009zbc.2_5'Flank|HSPA8_uc001pyp.2_Splice_Site_p.D69_splice|HSPA8_uc010rzu.1_Intron|HSPA8_uc009zbd.1_Splice_Site_p.D69_splice|HSPA8_uc010rzv.1_Splice_Site_p.D69_splice NM_006597 NP_006588 P11142 HSP7C_HUMAN heat shock 70kDa protein 8 isoform 1 cellular membrane organization|interspecies interaction between organisms|mRNA metabolic process|negative regulation of transcription, DNA-dependent|neurotransmitter secretion|post-Golgi vesicle-mediated transport|protein folding|response to unfolded protein|transcription, DNA-dependent cell surface|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|melanosome|plasma membrane|ribonucleoprotein complex ATP binding|ATPase activity, coupled|protein binding central_nervous_system(7)|lung(1) 8 Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279) CGTTTGGCATCTGTAAAAGGT 0.403 5 115 --- --- --- --- PASS OR8D4 338662 broad.mit.edu 37 11 123777167 123777167 + Missense_Mutation SNP C A A TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr11:123777167C>A uc010saa.1 + 1 29 c.29C>A c.(28-30)ACT>AAT p.T10N NM_001005197 NP_001005197 Q8NGM9 OR8D4_HUMAN olfactory receptor, family 8, subfamily D, 10 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409) TCCACAGTGACTGAGTTTCTT 0.403 45 129 --- --- --- --- PASS OR8D4 338662 broad.mit.edu 37 11 123777593 123777593 + Missense_Mutation SNP G T T TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr11:123777593G>T uc010saa.1 + 1 455 c.455G>T c.(454-456)GGT>GTT p.G152V NM_001005197 NP_001005197 Q8NGM9 OR8D4_HUMAN olfactory receptor, family 8, subfamily D, 152 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409) TTCTCAGTAGGTTTCACTGAT 0.483 60 249 --- --- --- --- PASS OR8D4 338662 broad.mit.edu 37 11 123777642 123777642 + Silent SNP C T T TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr11:123777642C>T uc010saa.1 + 1 504 c.504C>T c.(502-504)TTC>TTT p.F168F NM_001005197 NP_001005197 Q8NGM9 OR8D4_HUMAN olfactory receptor, family 8, subfamily D, 168 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409) GGTTGTCTTTCTGTGGATCAA 0.418 156 322 --- --- --- --- PASS VWA5A 4013 broad.mit.edu 37 11 124007928 124007928 + Missense_Mutation SNP C A A TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr11:124007928C>A uc001pzu.2 + 15 2041 c.1832C>A c.(1831-1833)CCA>CAA p.P611Q VWA5A_uc001pzt.2_Missense_Mutation_p.P611Q NM_001130142 NP_001123614 O00534 VMA5A_HUMAN BCSC-1 isoform 1 611 upper_aerodigestive_tract(1)|ovary(1) 2 GTCCCAAGGCCAATTCTGTTG 0.438 17 130 --- --- --- --- PASS OR8B4 283162 broad.mit.edu 37 11 124294691 124294691 + Missense_Mutation SNP G T T TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr11:124294691G>T uc010sak.1 - 1 77 c.77C>A c.(76-78)CCT>CAT p.P26H NM_001005196 NP_001005196 Q96RC9 OR8B4_HUMAN olfactory receptor, family 8, subfamily B, 26 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(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;0.0279) AAGGAAAAGAGGGAGCTGGAG 0.488 29 75 --- --- --- --- PASS OR8A1 390275 broad.mit.edu 37 11 124440531 124440531 + Silent SNP C G G TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr11:124440531C>G uc010san.1 + 1 567 c.567C>G c.(565-567)CTC>CTG p.L189L NM_001005194 NP_001005194 Q8NGG7 OR8A1_HUMAN olfactory receptor, family 8, subfamily A, 189 Extracellular (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) GTGAGCACCTCATCAGTCACT 0.498 48 161 --- --- --- --- PASS OR8A1 390275 broad.mit.edu 37 11 124440627 124440627 + Silent SNP C T T TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr11:124440627C>T uc010san.1 + 1 663 c.663C>T c.(661-663)TTC>TTT p.F221F NM_001005194 NP_001005194 Q8NGG7 OR8A1_HUMAN olfactory receptor, family 8, subfamily A, 221 Extracellular (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) CGGCTGGATTCAACATCATAG 0.473 38 133 --- --- --- --- PASS PANX3 116337 broad.mit.edu 37 11 124481499 124481499 + Missense_Mutation SNP T C C TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr11:124481499T>C uc001qah.2 + 1 47 c.47T>C c.(46-48)CTG>CCG p.L16P NM_052959 NP_443191 Q96QZ0 PANX3_HUMAN pannexin 3 16 Cytoplasmic (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) TCAGATGCCCTGCTGCCTGAC 0.617 9 56 --- --- --- --- PASS C11orf61 79684 broad.mit.edu 37 11 124637400 124637400 + Missense_Mutation SNP C A A TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr11:124637400C>A uc001qba.1 - 4 1375 c.1352G>T c.(1351-1353)CGG>CTG p.R451L C11orf61_uc001qaz.1_Missense_Mutation_p.R399L|C11orf61_uc010sap.1_Missense_Mutation_p.R171L|C11orf61_uc001qay.1_Missense_Mutation_p.R221L NM_024631 NP_078907 Q6P1R3 CK061_HUMAN hypothetical protein LOC79684 451 0 all_hematologic(175;0.215) Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.63e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0079) CAGGTCAACCCGGCCCTCTTT 0.507 197 178 --- --- --- --- PASS WNK1 65125 broad.mit.edu 37 12 992672 992672 + Missense_Mutation SNP G C C TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr12:992672G>C uc001qio.3 + 16 4108 c.3601G>C c.(3601-3603)GAG>CAG p.E1201Q WNK1_uc001qip.3_Missense_Mutation_p.E954Q|WNK1_uc001qir.3_Missense_Mutation_p.E374Q NM_018979 NP_061852 Q9H4A3 WNK1_HUMAN WNK lysine deficient protein kinase 1 1201 intracellular protein kinase cascade|ion transport|neuron development cytoplasm ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity stomach(6)|breast(6)|ovary(5)|lung(4)|large_intestine(1)|central_nervous_system(1) 23 all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632) Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197) TGTGGAACCAGAGGGTGATCA 0.423 32 142 --- --- --- --- PASS WNK1 65125 broad.mit.edu 37 12 1005368 1005368 + Silent SNP G C C TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr12:1005368G>C uc001qio.3 + 24 6222 c.5715G>C c.(5713-5715)GTG>GTC p.V1905V WNK1_uc001qip.3_Silent_p.V1657V|WNK1_uc001qir.3_Silent_p.V1078V NM_018979 NP_061852 Q9H4A3 WNK1_HUMAN WNK lysine deficient protein kinase 1 1905 intracellular protein kinase cascade|ion transport|neuron development cytoplasm ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity stomach(6)|breast(6)|ovary(5)|lung(4)|large_intestine(1)|central_nervous_system(1) 23 all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632) Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197) GTACCTTGGTGAAACCAGAGC 0.473 24 91 --- --- --- --- PASS TSPAN9 10867 broad.mit.edu 37 12 3389621 3389621 + Missense_Mutation SNP A G G TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr12:3389621A>G uc001qlp.2 + 6 551 c.404A>G c.(403-405)AAG>AGG p.K135R NM_006675 NP_006666 O75954 TSN9_HUMAN tetraspanin 9 135 Extracellular (Potential). integral to plasma membrane|membrane fraction ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(31;0.00153)|COAD - Colon adenocarcinoma(12;0.0831) GTGGGGCTGAAGAACGCCTGG 0.647 18 29 --- --- --- --- PASS KCNA5 3741 broad.mit.edu 37 12 5153871 5153871 + Silent SNP G A A TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr12:5153871G>A uc001qni.2 + 1 787 c.558G>A c.(556-558)CGG>CGA p.R186R NM_002234 NP_002225 P22460 KCNA5_HUMAN potassium voltage-gated channel, shaker-related 186 Golgi apparatus|voltage-gated potassium channel complex delayed rectifier potassium channel activity p.R186R(1) ovary(2)|breast(2) 4 GCCGCCTGCGGAGGCCGGTCA 0.637 10 52 --- --- --- --- PASS FAM90A1 55138 broad.mit.edu 37 12 8376803 8376803 + Nonsense_Mutation SNP G T T TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr12:8376803G>T uc001qui.2 - 5 691 c.132C>A c.(130-132)TGC>TGA p.C44* FAM90A1_uc001quh.2_Nonsense_Mutation_p.C44* NM_018088 NP_060558 Q86YD7 F90A1_HUMAN hypothetical protein LOC55138 44 nucleic acid binding|zinc ion binding ovary(1) 1 Kidney(36;0.0866) CACAGTTTTTGCACTTGAGCT 0.542 33 106 --- --- --- --- PASS ATF7IP 55729 broad.mit.edu 37 12 14633984 14633984 + Missense_Mutation SNP A C C TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr12:14633984A>C uc001rbw.2 + 13 3303 c.3145A>C c.(3145-3147)ACA>CCA p.T1049P ATF7IP_uc001rbv.1_Missense_Mutation_p.T1048P|ATF7IP_uc001rbx.2_Missense_Mutation_p.T1048P|ATF7IP_uc001rby.3_Missense_Mutation_p.T1049P|ATF7IP_uc001rca.2_Missense_Mutation_p.T1049P NM_018179 NP_060649 Q6VMQ6 MCAF1_HUMAN activating transcription factor 7 interacting 1049 DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent protein binding lung(3)|ovary(1)|skin(1) 5 TCAGGTGACCACAAGACTCCC 0.458 69 124 --- --- --- --- PASS SLCO1B1 10599 broad.mit.edu 37 12 21377756 21377756 + Silent SNP T C C TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr12:21377756T>C uc001req.3 + 14 1952 c.1848T>C c.(1846-1848)TAT>TAC p.Y616Y NM_006446 NP_006437 Q9Y6L6 SO1B1_HUMAN solute carrier organic anion transporter family, 616 Extracellular (Potential). bile acid metabolic process|sodium-independent organic anion transport basolateral plasma membrane|integral to plasma membrane|membrane fraction bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity ovary(3)|skin(3)|pancreas(1)|central_nervous_system(1) 8 Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175) GTAGGACATATAATTCCACAT 0.303 58 62 --- --- --- --- PASS GOLT1B 51026 broad.mit.edu 37 12 21661455 21661455 + Missense_Mutation SNP G T T TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr12:21661455G>T uc001rez.2 + 3 415 c.256G>T c.(256-258)GGC>TGC p.G86C GOLT1B_uc009zis.2_RNA|GOLT1B_uc009zit.2_RNA|GOLT1B_uc009ziu.2_Intron NM_016072 NP_057156 Q9Y3E0 GOT1B_HUMAN golgi transport 1 homolog B 86 Phe-rich.|Helical; Name=3; (Potential). positive regulation of I-kappaB kinase/NF-kappaB cascade|protein transport|vesicle-mediated transport endoplasmic reticulum|Golgi membrane|integral to membrane signal transducer activity 0 GCCTTTGATAGGCATGATCTT 0.333 52 101 --- --- --- --- PASS TSPAN11 441631 broad.mit.edu 37 12 31144836 31144836 + Missense_Mutation SNP C T T TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr12:31144836C>T uc010sju.1 + 8 1128 c.748C>T c.(748-750)CGG>TGG p.R250W TSPAN11_uc001rjp.2_Missense_Mutation_p.R250W|TSPAN11_uc010sjv.1_Missense_Mutation_p.R240W NM_001080509 NP_001073978 A1L157 TSN11_HUMAN tetraspanin 11 250 integral to membrane 0 all_lung(12;3.11e-10)|Lung NSC(12;5.24e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233) GAGGCTCCAGCGGCATTTTTA 0.552 16 63 --- --- --- --- PASS ADAMTS20 80070 broad.mit.edu 37 12 43822454 43822454 + Missense_Mutation SNP G A A TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr12:43822454G>A uc010skx.1 - 25 3638 c.3638C>T c.(3637-3639)GCA>GTA p.A1213V ADAMTS20_uc001rno.1_Missense_Mutation_p.A331V|ADAMTS20_uc001rnp.1_Missense_Mutation_p.A367V NM_025003 NP_079279 P59510 ATS20_HUMAN a disintegrin-like and metalloprotease with 1213 TSP type-1 8. proteinaceous extracellular matrix zinc ion binding central_nervous_system(5)|ovary(4)|lung(3)|large_intestine(2)|skin(2)|urinary_tract(1)|kidney(1)|pancreas(1) 19 all_cancers(12;2.6e-05)|Lung SC(27;0.184) Lung NSC(34;0.0569)|all_lung(34;0.129) GBM - Glioblastoma multiforme(48;0.0473) CCAATCCCCTGCTTGCCACTC 0.343 30 33 --- --- --- --- PASS ITGA5 3678 broad.mit.edu 37 12 54799710 54799710 + Missense_Mutation SNP C A A TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr12:54799710C>A uc001sga.2 - 10 975 c.907G>T c.(907-909)GTC>TTC p.V303F ITGA5_uc010sow.1_RNA|ITGA5_uc009znp.1_RNA NM_002205 NP_002196 P08648 ITA5_HUMAN integrin alpha 5 precursor 303 Extracellular (Potential).|FG-GAP 4. angiogenesis|axon guidance|blood coagulation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|wound healing, spreading of epidermal cells alphav-beta3 integrin-vitronectin complex|integrin complex|ruffle platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding ovary(2) 2 AGGATGGTGACCTGGGAGATG 0.522 26 96 --- --- --- --- PASS OR9K2 441639 broad.mit.edu 37 12 55524230 55524230 + Silent SNP C T T TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr12:55524230C>T uc010spe.1 + 1 678 c.678C>T c.(676-678)TCC>TCT p.S226S NM_001005243 NP_001005243 Q8NGE7 OR9K2_HUMAN olfactory receptor, family 9, subfamily K, 226 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|pancreas(1) 2 TATCTTTTTCCTTATCATGTA 0.363 38 124 --- --- --- --- PASS GLIPR1L1 256710 broad.mit.edu 37 12 75741445 75741445 + Missense_Mutation SNP T C C TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr12:75741445T>C uc001sxo.2 + 3 510 c.464T>C c.(463-465)ATG>ACG p.M155T CAPS2_uc001sxm.3_Intron|CAPS2_uc009zsa.2_Intron|GLIPR1L1_uc001sxn.2_Missense_Mutation_p.M155T NM_152779 NP_689992 Q6UWM5 GPRL1_HUMAN GLI pathogenesis-related 1 like 1 155 extracellular region 0 GCAGTTGCAATGTGTCCTAAC 0.333 36 176 --- --- --- --- PASS GLIPR1L2 144321 broad.mit.edu 37 12 75804237 75804237 + Silent SNP G A A TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr12:75804237G>A uc001sxr.1 + 2 266 c.258G>A c.(256-258)CGG>CGA p.R86R GLIPR1L2_uc001sxp.1_Silent_p.R86R|GLIPR1L2_uc001sxq.1_5'UTR NM_152436 NP_689649 Q4G1C9 GRPL2_HUMAN GLI pathogenesis-related 1 like 2 86 integral to membrane ovary(1) 1 CTTTATCACGGACTGCTAGAG 0.284 41 71 --- --- --- --- PASS ZDHHC17 23390 broad.mit.edu 37 12 77222220 77222220 + Missense_Mutation SNP T C C TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr12:77222220T>C uc001syk.1 + 10 1254 c.1091T>C c.(1090-1092)TTG>TCG p.L364S NM_015336 NP_056151 Q8IUH5 ZDH17_HUMAN huntingtin interacting protein 14 364 Helical; (Potential). lipoprotein transport|positive regulation of I-kappaB kinase/NF-kappaB cascade Golgi-associated vesicle membrane|integral to membrane magnesium ion transmembrane transporter activity|protein binding|protein-cysteine S-palmitoleyltransferase activity|signal transducer activity|zinc ion binding 0 GGGATATATTTGGCAACCAAA 0.313 96 371 --- --- --- --- PASS LIN7A 8825 broad.mit.edu 37 12 81205391 81205391 + Silent SNP C A A TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr12:81205391C>A uc001szj.1 - 5 748 c.555G>T c.(553-555)GTG>GTT p.V185V LIN7A_uc001szk.1_RNA NM_004664 NP_004655 O14910 LIN7A_HUMAN lin-7 homolog A 185 PDZ. exocytosis|protein complex assembly|protein transport basolateral plasma membrane|postsynaptic density|postsynaptic membrane|synaptosome|tight junction L27 domain binding ovary(1)|skin(1) 2 TGTATCGCACCACCAGCTTGA 0.463 22 116 --- --- --- --- PASS SPIC 121599 broad.mit.edu 37 12 101873408 101873408 + Missense_Mutation SNP G T T TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr12:101873408G>T uc001tid.2 + 4 305 c.146G>T c.(145-147)GGA>GTA p.G49V SPIC_uc009zua.2_5'UTR|SPIC_uc010svp.1_Missense_Mutation_p.G48V NM_152323 NP_689536 Q8N5J4 SPIC_HUMAN Spi-C transcription factor (Spi-1/PU.1 related) 49 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity skin(1) 1 CATGTCAAAGGAAATTCCAGC 0.363 44 52 --- --- --- --- PASS SPIC 121599 broad.mit.edu 37 12 101873409 101873409 + Silent SNP A T T TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr12:101873409A>T uc001tid.2 + 4 306 c.147A>T c.(145-147)GGA>GGT p.G49G SPIC_uc009zua.2_5'UTR|SPIC_uc010svp.1_Silent_p.G48G NM_152323 NP_689536 Q8N5J4 SPIC_HUMAN Spi-C transcription factor (Spi-1/PU.1 related) 49 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity skin(1) 1 ATGTCAAAGGAAATTCCAGCT 0.358 45 54 --- --- --- --- PASS C12orf48 55010 broad.mit.edu 37 12 102589768 102589768 + Missense_Mutation SNP C T T TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr12:102589768C>T uc001tjf.2 + 11 1551 c.1439C>T c.(1438-1440)ACG>ATG p.T480M C12orf48_uc001tjg.2_Missense_Mutation_p.T399M|C12orf48_uc010swa.1_Missense_Mutation_p.T557M|C12orf48_uc001tjh.2_Missense_Mutation_p.T399M|C12orf48_uc010swb.1_Silent_p.N173N|C12orf48_uc009zuc.2_Missense_Mutation_p.T34M|C12orf48_uc001tjj.2_Missense_Mutation_p.T195M|C12orf48_uc001tjk.2_3'UTR|C12orf48_uc009zud.2_Silent_p.N287N NM_017915 NP_060385 Q9NWS1 PR1BP_HUMAN hypothetical protein LOC55010 480 response to DNA damage stimulus cytoplasm|nucleus DNA binding 0 ACAATTGGAACGAGTTTTGGA 0.338 14 37 --- --- --- --- PASS STAB2 55576 broad.mit.edu 37 12 104067755 104067755 + Nonsense_Mutation SNP C A A TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr12:104067755C>A uc001tjw.2 + 23 2628 c.2442C>A c.(2440-2442)TGC>TGA p.C814* NM_017564 NP_060034 Q8WWQ8 STAB2_HUMAN stabilin 2 precursor 814 Extracellular (Potential). angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis cytoplasm|external side of plasma membrane|integral to plasma membrane Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity ovary(9)|skin(5) 14 CTGGCACATGCAGAGACGGCT 0.567 10 62 --- --- --- --- PASS CRY1 1407 broad.mit.edu 37 12 107486612 107486612 + Missense_Mutation SNP C G G TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr12:107486612C>G uc001tmi.3 - 1 987 c.128G>C c.(127-129)GGC>GCC p.G43A NM_004075 NP_004066 Q16526 CRY1_HUMAN cryptochrome 1 (photolyase-like) 43 DNA photolyase. DNA repair|protein-chromophore linkage|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus blue light photoreceptor activity|DNA photolyase activity|double-stranded DNA binding|nucleotide binding|protein binding ovary(3) 3 ATTGGAGGAGCCGGCGAACCA 0.577 OREG0022082 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 6 15 --- --- --- --- PASS CUX2 23316 broad.mit.edu 37 12 111748470 111748470 + Silent SNP C T T TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr12:111748470C>T uc001tsa.1 + 15 2037 c.1884C>T c.(1882-1884)ATC>ATT p.I628I NM_015267 NP_056082 O14529 CUX2_HUMAN cut-like 2 628 CUT 1. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(3)|skin(2)|breast(1) 6 TCAGGACCATCCAAGTGCGGC 0.517 22 35 --- --- --- --- PASS ATXN2 6311 broad.mit.edu 37 12 111926308 111926308 + Missense_Mutation SNP C A A TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr12:111926308C>A uc001tsj.2 - 15 2854 c.2692G>T c.(2692-2694)GAT>TAT p.D898Y ATXN2_uc001tsh.2_Missense_Mutation_p.D633Y|ATXN2_uc001tsi.2_Missense_Mutation_p.D609Y|ATXN2_uc001tsk.2_RNA|ATXN2_uc001tsg.2_Missense_Mutation_p.D84Y NM_002973 NP_002964 Q99700 ATX2_HUMAN ataxin 2 898 cell death|cytoplasmic mRNA processing body assembly|regulation of translation|RNA metabolic process|RNA transport|stress granule assembly nucleus|perinuclear region of cytoplasm|polysome|stress granule|trans-Golgi network protein C-terminus binding|RNA binding ovary(1)|breast(1) 2 TCTTCCTTATCGTCTTTCTCT 0.433 23 107 --- --- --- --- PASS MAPKAPK5 8550 broad.mit.edu 37 12 112321495 112321495 + Missense_Mutation SNP G C C TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr12:112321495G>C uc001tta.2 + 9 1030 c.771G>C c.(769-771)AAG>AAC p.K257N MAPKAPK5_uc001tsz.2_Missense_Mutation_p.K257N|MAPKAPK5_uc001ttb.2_Missense_Mutation_p.K190N NM_139078 NP_620777 Q8IW41 MAPK5_HUMAN MAP kinase-activated protein kinase 5 isoform 2 257 Protein kinase. signal transduction cytoplasm|nucleus ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity lung(2)|ovary(1) 3 TGCGAAGAAAGATCATGACAG 0.498 61 213 --- --- --- --- PASS MAPKAPK5 8550 broad.mit.edu 37 12 112321523 112321523 + Missense_Mutation SNP G A A TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr12:112321523G>A uc001tta.2 + 9 1058 c.799G>A c.(799-801)GAG>AAG p.E267K MAPKAPK5_uc001tsz.2_Missense_Mutation_p.E267K|MAPKAPK5_uc001ttb.2_Missense_Mutation_p.E200K NM_139078 NP_620777 Q8IW41 MAPK5_HUMAN MAP kinase-activated protein kinase 5 isoform 2 267 Protein kinase. signal transduction cytoplasm|nucleus ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity lung(2)|ovary(1) 3 TGAGTTCCCAGAGGAAGAGTG 0.527 44 155 --- --- --- --- PASS OAS3 4940 broad.mit.edu 37 12 113384716 113384716 + Missense_Mutation SNP T A A TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr12:113384716T>A uc001tug.2 + 4 892 c.805T>A c.(805-807)TGG>AGG p.W269R NM_006187 NP_006178 Q9Y6K5 OAS3_HUMAN 2'-5'oligoadenylate synthetase 3 269 OAS domain 1. interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway microsome ATP binding|nucleotidyltransferase activity|RNA binding central_nervous_system(1) 1 GTGTGTTTTCTGGACTGTCAA 0.562 25 34 --- --- --- --- PASS PLBD2 196463 broad.mit.edu 37 12 113812701 113812701 + Silent SNP C T T TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr12:113812701C>T uc001tve.2 + 5 783 c.748C>T c.(748-750)CTG>TTG p.L250L PLBD2_uc001tvf.2_Silent_p.L250L NM_173542 NP_775813 Q8NHP8 PLBL2_HUMAN phospholipase B domain containing 2 isoform 1 250 lipid catabolic process lysosomal lumen hydrolase activity 0 CCTCATCAAGCTGCTCCCTGG 0.577 19 130 --- --- --- --- PASS CLIP1 6249 broad.mit.edu 37 12 122832004 122832004 + Missense_Mutation SNP G A A TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr12:122832004G>A uc001ucg.1 - 9 1530 c.1424C>T c.(1423-1425)GCC>GTC p.A475V CLIP1_uc001uch.1_Missense_Mutation_p.A464V|CLIP1_uc001uci.1_Intron|CLIP1_uc001ucj.1_Missense_Mutation_p.A165V|CLIP1_uc009zxo.1_Intron NM_002956 NP_002947 P30622 CLIP1_HUMAN restin isoform a 475 Potential. mitotic prometaphase|positive regulation of microtubule polymerization centrosome|cytosol|endosome|intermediate filament|kinetochore nucleic acid binding|protein homodimerization activity|zinc ion binding ovary(2)|breast(1) 3 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226) CTTAATGCGGGCATGCTCCAG 0.478 5 305 --- --- --- --- PASS RILPL1 353116 broad.mit.edu 37 12 123970353 123970353 + Splice_Site SNP C G G TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr12:123970353C>G uc001ufe.2 - 5 1038 c.802_splice c.e5-1 p.T268_splice RILPL1_uc001ufd.2_Splice_Site_p.T117_splice|RILPL1_uc010tas.1_Splice_Site_p.T268_splice NM_178314 NP_847884 Q5EBL4 RIPL1_HUMAN Rab interacting lysosomal protein-like 1 neuroprotection cytosol 0 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.00067)|all cancers(50;0.00836)|BRCA - Breast invasive adenocarcinoma(302;0.197) CCGGCTCCGTCTGGAGGAGGC 0.627 8 25 --- --- --- --- PASS SACS 26278 broad.mit.edu 37 13 23913541 23913541 + Missense_Mutation SNP C G G TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr13:23913541C>G uc001uon.2 - 10 5063 c.4474G>C c.(4474-4476)GAA>CAA p.E1492Q SACS_uc001uoo.2_Missense_Mutation_p.E1345Q|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron NM_014363 NP_055178 Q9NZJ4 SACS_HUMAN sacsin 1492 cell death|negative regulation of inclusion body assembly|protein folding axon|cell body fiber|dendrite|mitochondrion|nucleus ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1) 12 all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128) all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189) AAACTGCATTCTGTTGCATTT 0.378 64 47 --- --- --- --- PASS CPB2 1361 broad.mit.edu 37 13 46641480 46641480 + Missense_Mutation SNP C T T TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr13:46641480C>T uc001vaw.2 - 7 731 c.664G>A c.(664-666)GTG>ATG p.V222M uc001vau.1_Intron|uc001vav.1_Intron|CPB2_uc001vax.2_Intron NM_001872 NP_001863 Q96IY4 CBPB2_HUMAN plasma carboxypeptidase B2 isoform a 222 blood coagulation|fibrinolysis|proteolysis extracellular space metallocarboxypeptidase activity|zinc ion binding ovary(1)|skin(1) 2 Lung NSC(96;4.21e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|all_neural(104;0.235) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;5.44e-05) ACATTAACCACTGGCATAACA 0.363 5 33 --- --- --- --- PASS RCBTB1 55213 broad.mit.edu 37 13 50115024 50115024 + Missense_Mutation SNP T G G TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr13:50115024T>G uc001vde.1 - 12 1704 c.1443A>C c.(1441-1443)AGA>AGC p.R481S NM_018191 NP_060661 Q8NDN9 RCBT1_HUMAN regulator of chromosome condensation (RCC1) and 481 BTB 2. cell cycle|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus ovary(1) 1 Lung NSC(96;2.1e-05)|Breast(56;0.00015)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19) KIRC - Kidney renal clear cell carcinoma(9;0.206) GBM - Glioblastoma multiforme(99;4.7e-09) CTGCATCATATCTGACTGCAG 0.433 24 63 --- --- --- --- PASS NEK5 341676 broad.mit.edu 37 13 52682506 52682506 + Missense_Mutation SNP G A A TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr13:52682506G>A uc001vge.2 - 8 642 c.502C>T c.(502-504)CCT>TCT p.P168S NEK5_uc001vgf.2_Missense_Mutation_p.P168S NM_199289 NP_954983 Q6P3R8 NEK5_HUMAN NIMA-related kinase 5 168 Protein kinase. ATP binding|metal ion binding|protein serine/threonine kinase activity upper_aerodigestive_tract(1) 1 Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236) GBM - Glioblastoma multiforme(99;3.7e-08) AGGTAGTAAGGTGTTCCAATA 0.333 41 54 --- --- --- --- PASS PCCA 5095 broad.mit.edu 37 13 100955223 100955223 + Missense_Mutation SNP C G G TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr13:100955223C>G uc001voo.2 + 14 1293 c.1255C>G c.(1255-1257)CAG>GAG p.Q419E PCCA_uc010aga.2_Missense_Mutation_p.Q393E|PCCA_uc010tiz.1_Missense_Mutation_p.Q419E|PCCA_uc001vop.2_RNA NM_000282 NP_000273 P05165 PCCA_HUMAN propionyl-Coenzyme A carboxylase, alpha 419 Biotin carboxylation. fatty acid beta-oxidation mitochondrial matrix ATP binding|biotin binding|biotin carboxylase activity|enzyme binding|metal ion binding|propionyl-CoA carboxylase activity skin(2) 2 all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) Biotin(DB00121) GAGATTGTCTCAGTACCAAGA 0.373 38 67 --- --- --- --- PASS NALCN 259232 broad.mit.edu 37 13 101763018 101763018 + Missense_Mutation SNP G C C TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr13:101763018G>C uc001vox.1 - 20 2505 c.2316C>G c.(2314-2316)AAC>AAG p.N772K NM_052867 NP_443099 Q8IZF0 NALCN_HUMAN voltage gated channel like 1 772 Cytoplasmic (Potential). integral to membrane sodium channel activity|voltage-gated ion channel activity ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1) 16 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) TCCTCTGGCTGTTTGATCCAT 0.373 29 56 --- --- --- --- PASS NALCN 259232 broad.mit.edu 37 13 101881796 101881796 + Missense_Mutation SNP A G G TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr13:101881796A>G uc001vox.1 - 13 1763 c.1574T>C c.(1573-1575)TTG>TCG p.L525S NALCN_uc001voy.2_Missense_Mutation_p.L240S|NALCN_uc001voz.2_Missense_Mutation_p.L525S|NALCN_uc001vpa.2_Missense_Mutation_p.L525S NM_052867 NP_443099 Q8IZF0 NALCN_HUMAN voltage gated channel like 1 525 Helical; Name=S5 of repeat II; (Potential). integral to membrane sodium channel activity|voltage-gated ion channel activity ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1) 16 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) GAACATCTGCAAACTAATTGC 0.353 11 96 --- --- --- --- PASS FGF14 2259 broad.mit.edu 37 13 102527585 102527585 + Missense_Mutation SNP C A A TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr13:102527585C>A uc001vpe.2 - 2 255 c.255G>T c.(253-255)ATG>ATT p.M85I FGF14_uc001vpf.2_Missense_Mutation_p.M90I NM_004115 NP_004106 Q92915 FGF14_HUMAN fibroblast growth factor 14 isoform 1A 85 cell death|cell-cell signaling|JNK cascade|nervous system development|signal transduction nucleus growth factor activity|heparin binding p.G85G(1) ovary(2)|lung(1)|large_intestine(1) 4 all_neural(89;0.0239)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) CATCGGGGTGCATTTGCAAGT 0.458 15 44 --- --- --- --- PASS COL4A1 1282 broad.mit.edu 37 13 110839513 110839513 + Missense_Mutation SNP G T T TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr13:110839513G>T uc001vqw.3 - 25 1822 c.1700C>A c.(1699-1701)CCG>CAG p.P567Q COL4A1_uc010agl.2_Intron NM_001845 NP_001836 P02462 CO4A1_HUMAN alpha 1 type IV collagen preproprotein 567 Triple-helical region. angiogenesis|axon guidance extracellular matrix structural constituent|platelet-derived growth factor binding ovary(3)|lung(1)|central_nervous_system(1)|pancreas(1) 6 all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604) Breast(118;0.2) BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145) AGGAAGACCCGGATGGCCATC 0.517 33 103 --- --- --- --- PASS GAS6 2621 broad.mit.edu 37 13 114541079 114541079 + Missense_Mutation SNP G C C TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr13:114541079G>C uc001vud.2 - 6 705 c.552C>G c.(550-552)AGC>AGG p.S184R GAS6_uc001vuf.2_5'Flank NM_000820 NP_000811 Q14393 GAS6_HUMAN growth arrest-specific 6 isoform 1 precursor 184 EGF-like 2; calcium-binding (Potential). cell proliferation|leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|post-translational protein modification|proteolysis|regulation of growth endoplasmic reticulum lumen|extracellular space|Golgi lumen|platelet alpha granule lumen calcium ion binding|receptor agonist activity central_nervous_system(4) 4 Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.0176)|all_epithelial(44;0.0104)|all_lung(25;0.0249)|Lung NSC(25;0.0908)|Breast(118;0.188) GCTCGAAGCCGCTGTGGCAGG 0.587 17 30 --- --- --- --- PASS RNASE3 6037 broad.mit.edu 37 14 21360108 21360108 + Missense_Mutation SNP G A A TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr14:21360108G>A uc001vyj.2 + 2 317 c.263G>A c.(262-264)CGC>CAC p.R88H NM_002935 NP_002926 P12724 ECP_HUMAN ribonuclease, RNase A family, 3 (eosinophil 88 defense response to bacterium|RNA catabolic process extracellular region|soluble fraction nucleic acid binding|pancreatic ribonuclease activity 0 all_cancers(95;0.00453) OV - Ovarian serous cystadenocarcinoma(11;6.3e-09)|Epithelial(56;1.42e-07)|all cancers(55;5.48e-07) GBM - Glioblastoma multiforme(265;0.0187) Pranlukast(DB01411) CAAAGTATACGCTGCCCTCAT 0.398 35 150 --- --- --- --- PASS HNRNPC 3183 broad.mit.edu 37 14 21679612 21679612 + Missense_Mutation SNP C A A TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr14:21679612C>A uc001vzy.2 - 8 1034 c.790G>T c.(790-792)GGG>TGG p.G264W HNRNPC_uc001vzw.2_Missense_Mutation_p.G251W|HNRNPC_uc001wad.2_Missense_Mutation_p.G184W|HNRNPC_uc001vzx.2_RNA|HNRNPC_uc001vzz.2_Missense_Mutation_p.G251W|HNRNPC_uc001waa.2_Missense_Mutation_p.G264W|HNRNPC_uc010ail.2_Missense_Mutation_p.G264W|HNRNPC_uc010tlq.1_RNA|HNRNPC_uc001wab.2_Missense_Mutation_p.G250W|HNRNPC_uc001wac.2_Missense_Mutation_p.G208W|HNRNPC_uc010tlr.1_Missense_Mutation_p.G129W|HNRNPC_uc001waf.2_Missense_Mutation_p.G251W|HNRNPC_uc001wae.2_Missense_Mutation_p.G251W NM_031314 NP_112604 P07910 HNRPC_HUMAN heterogeneous nuclear ribonucleoprotein C 264 Asp/Glu-rich (acidic). catalytic step 2 spliceosome|nucleoplasm identical protein binding|nucleotide binding|RNA binding 0 all_cancers(95;0.00176) Epithelial(56;1.08e-06)|all cancers(55;8.95e-06) GBM - Glioblastoma multiforme(265;0.00783) AGTAGGTCCCCCTCCTCAGCA 0.522 36 77 --- --- --- --- PASS REC8 9985 broad.mit.edu 37 14 24642575 24642575 + Missense_Mutation SNP G T T TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr14:24642575G>T uc001wmr.2 + 6 844 c.417G>T c.(415-417)ATG>ATT p.M139I REC8_uc001wms.2_Missense_Mutation_p.M139I NM_005132 NP_005123 O95072 REC8_HUMAN REC8 homolog 139 mitotic metaphase/anaphase transition|mitotic prometaphase|reciprocal meiotic recombination|sister chromatid cohesion nucleoplasm 0 GBM - Glioblastoma multiforme(265;0.00839) TTTTTGGGATGATGTCTGTGG 0.532 175 238 --- --- --- --- PASS CFL2 1073 broad.mit.edu 37 14 35182136 35182136 + Missense_Mutation SNP G A A TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr14:35182136G>A uc001wsg.3 - 4 577 c.436C>T c.(436-438)CGT>TGT p.R146C CFL2_uc010tpn.1_Missense_Mutation_p.R129C|CFL2_uc001wsh.3_Missense_Mutation_p.R146C|CFL2_uc001wsi.3_RNA|CFL2_uc001wsj.3_RNA NM_021914 NP_068733 Q9Y281 COF2_HUMAN cofilin 2 146 ADF-H. cytoplasm|cytoskeleton|nuclear matrix actin binding breast(2) 2 Breast(36;0.0361)|Hepatocellular(127;0.158) LUAD - Lung adenocarcinoma(48;6.07e-06)|Lung(238;2.23e-05)|Epithelial(34;0.0387)|all cancers(34;0.0814) GBM - Glioblastoma multiforme(112;0.0424) AGTGTCGAACGGTCCTTAATA 0.328 30 92 --- --- --- --- PASS PTGDR 5729 broad.mit.edu 37 14 52734567 52734567 + Missense_Mutation SNP C A A TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr14:52734567C>A uc001wzq.2 + 1 137 c.35C>A c.(34-36)ACC>AAC p.T12N NM_000953 NP_000944 Q13258 PD2R_HUMAN prostaglandin D2 receptor 12 Extracellular (Potential). integral to membrane|plasma membrane prostaglandin D receptor activity|protein binding ovary(1)|lung(1)|central_nervous_system(1)|skin(1) 4 Breast(41;0.0639)|all_epithelial(31;0.0887) Nedocromil(DB00716) CAGAACACCACCTCTGTGGAA 0.701 9 5 --- --- --- --- PASS KIAA1737 85457 broad.mit.edu 37 14 77580545 77580545 + Missense_Mutation SNP G C C TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr14:77580545G>C uc001xtd.2 + 4 1263 c.1084G>C c.(1084-1086)GAA>CAA p.E362Q KIAA1737_uc001xtc.1_Missense_Mutation_p.E264Q NM_033426 NP_219494 Q9C0C6 K1737_HUMAN KIAA1737 protein 362 0 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0284) GCTGTTTATAGAAGCCACCAA 0.493 3 78 --- --- --- --- PASS TTC8 123016 broad.mit.edu 37 14 89337998 89337998 + Silent SNP T C C TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr14:89337998T>C uc010ath.2 + 12 1337 c.1203T>C c.(1201-1203)CGT>CGC p.R401R TTC8_uc001xxl.2_Silent_p.R146R|TTC8_uc010ati.2_Silent_p.R187R|TTC8_uc001xxm.2_Silent_p.R345R|TTC8_uc010atj.2_Silent_p.R120R|TTC8_uc001xxi.2_Silent_p.R385R|TTC8_uc001xxj.2_Silent_p.R375R|TTC8_uc001xxk.2_Silent_p.R345R NM_198309 NP_938051 Q8TAM2 TTC8_HUMAN tetratricopeptide repeat domain 8 isoform B 411 TPR 6. cilium assembly|establishment of anatomical structure orientation|sensory processing BBSome|centrosome|cilium membrane|microtubule basal body protein binding 0 CATTTGAACGTGCCCTTTCTT 0.433 Bardet-Biedl_syndrome 6 189 --- --- --- --- PASS KIAA1409 57578 broad.mit.edu 37 14 94088624 94088624 + Missense_Mutation SNP C A A TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr14:94088624C>A uc001ybv.1 + 28 4663 c.4580C>A c.(4579-4581)GCT>GAT p.A1527D KIAA1409_uc001ybs.1_Missense_Mutation_p.A1505D NM_020818 NP_065869 Q9P2D8 UNC79_HUMAN hypothetical protein LOC57578 1682 integral to membrane ovary(10)|skin(4)|large_intestine(3) 17 all_cancers(154;0.0354)|all_epithelial(191;0.216) Epithelial(152;0.188) CTGAGCACAGCTCCGCTTGTA 0.537 78 49 --- --- --- --- PASS PPP4R4 57718 broad.mit.edu 37 14 94697620 94697620 + Missense_Mutation SNP G A A rs149895295 TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr14:94697620G>A uc001ycs.1 + 5 638 c.484G>A c.(484-486)GAA>AAA p.E162K NM_058237 NP_478144 Q6NUP7 PP4R4_HUMAN HEAT-like repeat-containing protein isoform 1 162 cytoplasm|protein serine/threonine phosphatase complex protein binding skin(3)|upper_aerodigestive_tract(1) 4 GTCTGTTATAGAAGTATTGCC 0.358 81 64 --- --- --- --- PASS EIF5 1983 broad.mit.edu 37 14 103802453 103802453 + Silent SNP G T T TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr14:103802453G>T uc001ymq.2 + 4 675 c.153G>T c.(151-153)ACG>ACT p.T51T EIF5_uc001ymr.2_Silent_p.T51T|EIF5_uc001yms.2_Silent_p.T51T|EIF5_uc001ymt.2_Silent_p.T51T|EIF5_uc001ymu.2_Silent_p.T51T|SNORA28_uc001ymv.1_5'Flank NM_001969 NP_001960 P55010 IF5_HUMAN eukaryotic translation initiation factor 5 51 regulation of translational initiation|RNA metabolic process cytosol GTP binding|GTPase activity|translation initiation factor activity pancreas(1)|breast(1)|skin(1) 3 Melanoma(154;0.155) Epithelial(46;0.182) GGCCTCCAACGTGTAAGTAAA 0.393 29 20 --- --- --- --- PASS ADAM6 8755 broad.mit.edu 37 14 106321889 106321889 + RNA SNP G T T TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr14:106321889G>T uc010tyt.1 - 3599 c.55507C>A uc001yrs.2_Intron|uc001yrt.2_Intron|uc001yrw.1_Intron|uc001yrx.1_Intron|uc001yrz.1_Intron|uc001yse.2_Intron|uc001ysf.2_Intron|uc001ysj.2_Intron|uc001ysk.1_Intron|uc001ysl.1_Intron|uc001ysm.1_Intron|uc001ysn.1_Intron|uc001yso.1_Intron Parts of antibodies, mostly variable regions. 0 GTGGGACGAAGACGCTCACTT 0.667 28 17 --- --- --- --- PASS ADAM6 8755 broad.mit.edu 37 14 106610747 106610747 + RNA SNP A G G TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr14:106610747A>G uc010tyt.1 - 1166 c.26187T>C Parts of antibodies, mostly variable regions. 0 AGCAGCAAGGAAAATCCAGCT 0.463 26 110 --- --- --- --- PASS ADAM6 8755 broad.mit.edu 37 14 106926482 106926482 + RNA SNP T C C TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr14:106926482T>C uc010tyt.1 - 235 c.10073A>G uc010tyu.1_Intron Parts of antibodies, mostly variable regions. 0 CCAGCTGCACTTCACACTGGA 0.527 4 159 --- --- --- --- PASS NIPA1 123606 broad.mit.edu 37 15 23049066 23049066 + Silent SNP C T T TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr15:23049066C>T uc001yvc.2 - 5 778 c.753G>A c.(751-753)GCG>GCA p.A251A NIPA1_uc001yvd.2_Silent_p.A81A|NIPA1_uc001yve.2_Silent_p.A176A NM_144599 NP_653200 Q7RTP0 NIPA1_HUMAN non-imprinted in Prader-Willi/Angelman syndrome 251 Cytoplasmic (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) AGCACTCCAGCGCCTTGTTGA 0.597 15 57 --- --- --- --- PASS C15orf2 23742 broad.mit.edu 37 15 24921553 24921553 + Missense_Mutation SNP T A A TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr15:24921553T>A uc001ywo.2 + 1 1013 c.539T>A c.(538-540)CTT>CAT p.L180H NM_018958 NP_061831 Q9NZP6 CO002_HUMAN hypothetical protein LOC23742 180 cell differentiation|multicellular organismal development|spermatogenesis ovary(2)|large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1) 8 all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086) all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229) AGGACCCCCCTTAGCAGCGGA 0.607 33 32 --- --- --- --- PASS ATP10A 57194 broad.mit.edu 37 15 25932883 25932883 + Silent SNP G T T TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr15:25932883G>T uc010ayu.2 - 16 3364 c.3258C>A c.(3256-3258)GCC>GCA p.A1086A NM_024490 NP_077816 O60312 AT10A_HUMAN ATPase, class V, type 10A 1086 Cytoplasmic (Potential). ATP biosynthetic process|regulation of cell shape integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity pancreas(2)|ovary(1)|breast(1)|liver(1) 5 all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125) all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244) GCACCATGTTGGCAAGTCGGG 0.488 87 134 --- --- --- --- PASS ATP10A 57194 broad.mit.edu 37 15 25966902 25966902 + Missense_Mutation SNP T A A TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr15:25966902T>A uc010ayu.2 - 7 1371 c.1265A>T c.(1264-1266)CAG>CTG p.Q422L NM_024490 NP_077816 O60312 AT10A_HUMAN ATPase, class V, type 10A 422 Cytoplasmic (Potential). ATP biosynthetic process|regulation of cell shape integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity pancreas(2)|ovary(1)|breast(1)|liver(1) 5 all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125) all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244) GAAAATGTACTGTATCTGTCC 0.428 57 134 --- --- --- --- PASS RYR3 6263 broad.mit.edu 37 15 33926842 33926842 + Missense_Mutation SNP G A A TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr15:33926842G>A uc001zhi.2 + 25 3153 c.3083G>A c.(3082-3084)CGT>CAT p.R1028H RYR3_uc010bar.2_Missense_Mutation_p.R1028H NM_001036 NP_001027 Q15413 RYR3_HUMAN ryanodine receptor 3 1028 2.|B30.2/SPRY 2.|Cytoplasmic (By similarity).|4 X approximate repeats. cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity ovary(5)|central_nervous_system(4)|lung(1) 10 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) CTGGATGAGCGTACCAAGAAG 0.458 23 110 --- --- --- --- PASS INO80 54617 broad.mit.edu 37 15 41377648 41377648 + Missense_Mutation SNP C A A TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr15:41377648C>A uc001zni.2 - 7 1005 c.792G>T c.(790-792)AAG>AAT p.K264N INO80_uc010ucu.1_RNA NM_017553 NP_060023 Q9ULG1 INO80_HUMAN INO80 complex homolog 1 264 Assembles INO80 complex module with putative regulatory components INO80E, INO80F, UCHL5, NFRKB, MCRS1 and IN80D.|Assembles INO80 complex module consisting of conserved components ACTR8, ACTL6A and YY1. cell division|cellular response to ionizing radiation|cellular response to UV|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of cell growth|positive regulation of DNA replication involved in S phase|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly|UV-damage excision repair Ino80 complex|microtubule actin binding|alpha-tubulin binding|ATP binding|ATPase activity|DNA binding|DNA helicase activity ovary(2)|pancreas(1)|skin(1) 4 AGTGCTTTTTCTTAGTGCCAG 0.483 46 210 --- --- --- --- PASS GANC 2595 broad.mit.edu 37 15 42602892 42602892 + Missense_Mutation SNP A T T TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr15:42602892A>T uc001zpi.2 + 10 1219 c.905A>T c.(904-906)TAC>TTC p.Y302F GANC_uc001zph.2_Missense_Mutation_p.Y302F|GANC_uc001zpj.1_Missense_Mutation_p.Y41F NM_198141 NP_937784 Q8TET4 GANC_HUMAN glucosidase, alpha; neutral C 302 carbohydrate metabolic process carbohydrate binding|maltose alpha-glucosidase activity central_nervous_system(2) 2 all_cancers(109;3.08e-16)|all_epithelial(112;7.48e-15)|Lung NSC(122;3.08e-09)|all_lung(180;1.48e-08)|Melanoma(134;0.0574)|Colorectal(260;0.153) GBM - Glioblastoma multiforme(94;1.06e-06) TTTTTCCAGTACACACTGACC 0.418 32 102 --- --- --- --- PASS LRRC57 255252 broad.mit.edu 37 15 42839477 42839477 + Silent SNP G C C TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr15:42839477G>C uc001zqd.1 - 3 842 c.474C>G c.(472-474)CTC>CTG p.L158L HAUS2_uc001zqe.2_5'Flank|HAUS2_uc010udi.1_5'Flank|HAUS2_uc001zqf.2_5'Flank|LRRC57_uc001zqc.2_Silent_p.L158L NM_153260 NP_694992 Q8N9N7 LRC57_HUMAN leucine rich repeat containing 57 158 LRR 6. 0 all_cancers(109;1.99e-12)|all_epithelial(112;5.11e-11)|Lung NSC(122;4.53e-07)|all_lung(180;1.64e-06)|Melanoma(134;0.0262) GBM - Glioblastoma multiforme(94;6.87e-07) GGTTGAGGTTGAGTTCGATGA 0.448 66 86 --- --- --- --- PASS TGM7 116179 broad.mit.edu 37 15 43577058 43577058 + Missense_Mutation SNP C T T TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr15:43577058C>T uc001zrf.1 - 7 963 c.958G>A c.(958-960)GAC>AAC p.D320N NM_052955 NP_443187 Q96PF1 TGM7_HUMAN transglutaminase 7 320 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) GCATTTCGGTCATAGTACGTA 0.468 48 223 --- --- --- --- PASS TLN2 83660 broad.mit.edu 37 15 63004276 63004276 + Missense_Mutation SNP G C C TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr15:63004276G>C uc002alb.3 + 19 2634 c.2634G>C c.(2632-2634)AAG>AAC p.K878N NM_015059 NP_055874 Q9Y4G6 TLN2_HUMAN talin 2 878 Ala-rich. cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse actin binding|insulin receptor binding|structural constituent of cytoskeleton ovary(5)|upper_aerodigestive_tract(2)|lung(2)|breast(2) 11 AAGCTGCAAAGGTATTCTACT 0.448 22 48 --- --- --- --- PASS DPP8 54878 broad.mit.edu 37 15 65759515 65759515 + Missense_Mutation SNP T C C TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr15:65759515T>C uc002aov.2 - 13 3209 c.1631A>G c.(1630-1632)AAA>AGA p.K544R DPP8_uc002aow.2_Missense_Mutation_p.K544R|DPP8_uc010uiv.1_RNA|DPP8_uc002aox.2_Missense_Mutation_p.K528R|DPP8_uc002aoy.2_Missense_Mutation_p.K544R|DPP8_uc002aoz.2_Missense_Mutation_p.K528R|DPP8_uc010bhj.2_Missense_Mutation_p.K544R|DPP8_uc002apa.2_Missense_Mutation_p.K441R|DPP8_uc010bhi.2_5'UTR|DPP8_uc010bhk.1_Missense_Mutation_p.K113R NM_130434 NP_569118 Q6V1X1 DPP8_HUMAN dipeptidyl peptidase 8 isoform 1 544 immune response|proteolysis cytoplasm|membrane|nucleus aminopeptidase activity|dipeptidyl-peptidase activity|serine-type peptidase activity ovary(1) 1 AGGGGAGTCTTTGGTGCCTTC 0.448 34 56 --- --- --- --- PASS C15orf60 283677 broad.mit.edu 37 15 73852191 73852191 + Missense_Mutation SNP G C C TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr15:73852191G>C uc002avq.2 + 6 763 c.735G>C c.(733-735)CAG>CAC p.Q245H C15orf60_uc010bjb.2_Missense_Mutation_p.Q217H NM_001042367 NP_001035826 Q7Z4M0 CO060_HUMAN hypothetical protein LOC283677 245 pancreas(1) 1 TTATGGATCAGAATTTCCCAG 0.438 52 97 --- --- --- --- PASS AGBL1 123624 broad.mit.edu 37 15 86807662 86807662 + Missense_Mutation SNP G T T TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr15:86807662G>T uc002blz.1 + 10 1202 c.1122G>T c.(1120-1122)AAG>AAT p.K374N AGBL1_uc002bma.1_Missense_Mutation_p.K105N|AGBL1_uc002bmb.1_Missense_Mutation_p.K68N NM_152336 NP_689549 Q96MI9 CBPC4_HUMAN ATP/GTP binding protein-like 1 374 C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis cytosol metallocarboxypeptidase activity|tubulin binding|zinc ion binding 0 GCAGGGTGAAGACGGGAAGGT 0.483 24 29 --- --- --- --- PASS SPATA8 145946 broad.mit.edu 37 15 97326950 97326950 + Missense_Mutation SNP C A A TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr15:97326950C>A uc002bue.2 + 1 275 c.65C>A c.(64-66)TCT>TAT p.S22Y uc010uro.1_5'Flank|uc010urp.1_5'Flank|uc002bud.1_5'Flank NM_173499 NP_775770 Q6RVD6 SPAT8_HUMAN spermatogenesis associated 8 22 ovary(1)|skin(1) 2 Melanoma(26;0.0142)|Lung NSC(78;0.041)|all_lung(78;0.0468) OV - Ovarian serous cystadenocarcinoma(32;0.0718) ATTGCCCCCTCTTTTCAGAGG 0.557 23 57 --- --- --- --- PASS PRSS21 10942 broad.mit.edu 37 16 2868807 2868807 + Silent SNP C T T TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr16:2868807C>T uc002crt.2 + 4 493 c.387C>T c.(385-387)CGC>CGT p.R129R PRSS21_uc002crs.2_Silent_p.R127R|PRSS21_uc002crr.2_Silent_p.R129R NM_006799 NP_006790 Q9Y6M0 TEST_HUMAN testisin isoform 1 129 Peptidase S1. proteolysis anchored to membrane|cytoplasm|membrane fraction|plasma membrane serine-type endopeptidase activity ovary(1)|skin(1) 2 TGAGCCCTCGCTACCTGGGGA 0.532 85 156 --- --- --- --- PASS ZNF205 7755 broad.mit.edu 37 16 3165878 3165878 + Missense_Mutation SNP G C C TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr16:3165878G>C uc002cub.2 + 4 455 c.320G>C c.(319-321)AGA>ACA p.R107T MGC3771_uc010bte.2_5'Flank|MGC3771_uc002ctz.3_5'Flank|ZNF205_uc002cua.2_Missense_Mutation_p.R107T NM_001042428 NP_001035893 O95201 ZN205_HUMAN zinc finger protein 205 107 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding 0 GGGAGGACCAGAGACCGGCAG 0.667 14 39 --- --- --- --- PASS ZNF205 7755 broad.mit.edu 37 16 3166446 3166446 + Missense_Mutation SNP G A A TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr16:3166446G>A uc002cub.2 + 5 517 c.382G>A c.(382-384)GAT>AAT p.D128N MGC3771_uc010bte.2_5'Flank|MGC3771_uc002ctz.3_5'Flank|ZNF205_uc002cua.2_Missense_Mutation_p.D128N NM_001042428 NP_001035893 O95201 ZN205_HUMAN zinc finger protein 205 128 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding 0 GACTTTCGAGGATGTGGCCTT 0.547 13 83 --- --- --- --- PASS ZNF205 7755 broad.mit.edu 37 16 3166483 3166483 + Missense_Mutation SNP G A A TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr16:3166483G>A uc002cub.2 + 5 554 c.419G>A c.(418-420)CGG>CAG p.R140Q MGC3771_uc010bte.2_5'Flank|MGC3771_uc002ctz.3_5'Flank|ZNF205_uc002cua.2_Missense_Mutation_p.R140Q NM_001042428 NP_001035893 O95201 ZN205_HUMAN zinc finger protein 205 140 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding 0 GAGTGGGGACGGCTGGACCAC 0.557 17 70 --- --- --- --- PASS ZNF205 7755 broad.mit.edu 37 16 3169513 3169513 + Silent SNP G A A TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr16:3169513G>A uc002cub.2 + 7 987 c.852G>A c.(850-852)GAG>GAA p.E284E ZNF205_uc002cua.2_Silent_p.E284E NM_001042428 NP_001035893 O95201 ZN205_HUMAN zinc finger protein 205 284 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding 0 AGCCCAACGAGGAGGAGAAGG 0.706 4 11 --- --- --- --- PASS MYH11 4629 broad.mit.edu 37 16 15850288 15850288 + Silent SNP C G G TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr16:15850288C>G uc002ddy.2 - 14 1766 c.1659G>C c.(1657-1659)CTG>CTC p.L553L MYH11_uc002ddv.2_Silent_p.L560L|MYH11_uc002ddw.2_Silent_p.L553L|MYH11_uc002ddx.2_Silent_p.L560L|MYH11_uc010bvg.2_Silent_p.L385L|MYH11_uc002dea.1_Silent_p.L259L NM_002474 NP_002465 P35749 MYH11_HUMAN smooth muscle myosin heavy chain 11 isoform 553 Myosin head-like. axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction cytosol|melanosome|muscle myosin complex|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle ovary(6)|skin(3)|lung(2)|breast(2)|upper_aerodigestive_tract(1)|pancreas(1) 15 GCTCCGTGCACAGCTTCTCCA 0.567 T CBFB AML OREG0023636 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 52 43 --- --- --- --- PASS SMG1 23049 broad.mit.edu 37 16 18830965 18830965 + Silent SNP A G G TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr16:18830965A>G uc002dfm.2 - 56 10116 c.9753T>C c.(9751-9753)GCT>GCC p.A3251A SMG1_uc010bwb.2_Silent_p.A3111A|SMG1_uc010bwa.2_Silent_p.A1982A NM_015092 NP_055907 Q96Q15 SMG1_HUMAN PI-3-kinase-related kinase SMG-1 3251 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 ATTCAAGTGCAGCTAGCTTCT 0.408 5 3 --- --- --- --- PASS ACSM2A 123876 broad.mit.edu 37 16 20489923 20489923 + Missense_Mutation SNP T G G TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr16:20489923T>G uc010bwe.2 + 11 1444 c.1205T>G c.(1204-1206)CTG>CGG p.L402R ACSM2A_uc010vax.1_Missense_Mutation_p.L323R|ACSM2A_uc002dhf.3_Missense_Mutation_p.L402R|ACSM2A_uc002dhg.3_Missense_Mutation_p.L402R|ACSM2A_uc010vay.1_Missense_Mutation_p.L323R|ACSM2A_uc002dhh.3_Missense_Mutation_p.L32R NM_001010845 NP_001010845 Q08AH3 ACS2A_HUMAN acyl-CoA synthetase medium-chain family member 402 fatty acid metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|metal ion binding skin(2)|breast(1) 3 GGCAACGTCCTGCCCCCCGGC 0.502 23 115 --- --- --- --- PASS EEF2K 29904 broad.mit.edu 37 16 22237271 22237271 + Missense_Mutation SNP C G G TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr16:22237271C>G uc002dki.2 + 2 706 c.221C>G c.(220-222)TCC>TGC p.S74C EEF2K_uc002dkh.2_RNA NM_013302 NP_037434 O00418 EF2K_HUMAN elongation factor-2 kinase 74 insulin receptor signaling pathway|translational elongation cytosol ATP binding|calcium ion binding|calmodulin binding|elongation factor-2 kinase activity|translation factor activity, nucleic acid binding large_intestine(1) 1 GBM - Glioblastoma multiforme(48;0.0223) TCCAGCGGGTCCCCGGCAAAC 0.522 24 50 --- --- --- --- PASS SCNN1B 6338 broad.mit.edu 37 16 23392036 23392036 + Missense_Mutation SNP C A A TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr16:23392036C>A uc002dln.2 + 13 2013 c.1837C>A c.(1837-1839)CCA>ACA p.P613T NM_000336 NP_000327 P51168 SCNNB_HUMAN sodium channel, nonvoltage-gated 1, beta 613 Cytoplasmic (By similarity). excretion|sensory perception of taste apical plasma membrane ligand-gated sodium channel activity|WW domain binding ovary(3)|breast(2)|large_intestine(1)|pancreas(1) 7 GBM - Glioblastoma multiforme(48;0.0465) Amiloride(DB00594)|Triamterene(DB00384) CCTGCCCATCCCAGGCACCCC 0.672 12 52 --- --- --- --- PASS ZKSCAN2 342357 broad.mit.edu 37 16 25258570 25258570 + Missense_Mutation SNP A T T TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr16:25258570A>T uc002dod.3 - 5 1354 c.947T>A c.(946-948)GTC>GAC p.V316D ZKSCAN2_uc010vcl.1_Missense_Mutation_p.V112D|ZKSCAN2_uc002doe.2_Missense_Mutation_p.V316D NM_001012981 NP_001012999 Q63HK3 ZKSC2_HUMAN zinc finger with KRAB and SCAN domains 2 316 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(3)|breast(1) 4 GBM - Glioblastoma multiforme(48;0.0378) CCTTGCAGGGACCTGAATAGC 0.463 82 107 --- --- --- --- PASS ABCC12 94160 broad.mit.edu 37 16 48180233 48180233 + Missense_Mutation SNP C A A TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr16:48180233C>A uc002efc.1 - 1 449 c.103G>T c.(103-105)GTG>TTG p.V35L ABCC12_uc002eey.1_RNA|ABCC12_uc002eez.1_RNA|ABCC12_uc002efa.1_RNA|ABCC12_uc002efb.1_RNA|ABCC12_uc002efd.1_RNA|ABCC12_uc002efe.1_Missense_Mutation_p.V35L|ABCC12_uc010vgj.1_RNA NM_033226 NP_150229 Q96J65 MRP9_HUMAN ATP-binding cassette protein C12 35 integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances ovary(2)|skin(1) 3 all_cancers(37;0.0474)|all_lung(18;0.047) CAGGGTCGCACTGGGATCATG 0.577 23 78 --- --- --- --- PASS LONP2 83752 broad.mit.edu 37 16 48337093 48337093 + Missense_Mutation SNP G A A TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr16:48337093G>A uc002efi.1 + 11 1761 c.1672G>A c.(1672-1674)GAG>AAG p.E558K LONP2_uc010vgm.1_RNA|LONP2_uc002efj.1_Missense_Mutation_p.E514K NM_031490 NP_113678 Q86WA8 LONP2_HUMAN peroxisomal LON protease-like 558 misfolded or incompletely synthesized protein catabolic process|protein targeting to peroxisome|signal peptide processing nucleoid|peroxisomal matrix ATP binding|ATP-dependent peptidase activity|enzyme binding|sequence-specific DNA binding|serine-type endopeptidase activity 0 GTATACCAGAGAGGCAGGGGT 0.413 20 41 --- --- --- --- PASS NOD2 64127 broad.mit.edu 37 16 50745180 50745180 + Missense_Mutation SNP A G G TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr16:50745180A>G uc002egm.1 + 4 1463 c.1358A>G c.(1357-1359)GAG>GGG p.E453G NOD2_uc010cbk.1_Missense_Mutation_p.E426G|NOD2_uc002egl.1_Missense_Mutation_p.E231G|NOD2_uc010cbl.1_Missense_Mutation_p.E231G|NOD2_uc010cbm.1_Missense_Mutation_p.E231G|NOD2_uc010cbn.1_RNA|NOD2_uc010cbo.1_RNA|NOD2_uc010cbp.1_5'Flank|NOD2_uc010cbq.1_5'Flank|NOD2_uc010cbr.1_5'Flank NM_022162 NP_071445 Q9HC29 NOD2_HUMAN nucleotide-binding oligomerization domain 453 NACHT. activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|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 cell surface|cytosol|plasma membrane|vesicle ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding ovary(3)|skin(1) 4 all_cancers(37;0.0156) CAGGGCATCGAGCTGTACCTG 0.637 28 87 --- --- --- --- PASS CES7 221223 broad.mit.edu 37 16 55903629 55903629 + Missense_Mutation SNP A T T TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr16:55903629A>T uc002eip.2 - 4 594 c.445T>A c.(445-447)TTC>ATC p.F149I CES7_uc002eio.2_Missense_Mutation_p.F149I|CES7_uc002eiq.2_5'UTR|CES7_uc002eir.2_Missense_Mutation_p.F43I NM_001143685 NP_001137157 Q6NT32 EST5A_HUMAN carboxylesterase 7 isoform 1 149 extracellular region carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity 0 all cancers(182;0.229)|Epithelial(162;0.231) CCAGTCTTGAAGGCACCTCCT 0.587 7 20 --- --- --- --- PASS CDH1 999 broad.mit.edu 37 16 68849430 68849430 + Missense_Mutation SNP G C C TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr16:68849430G>C uc002ewg.1 + 10 1457 c.1333G>C c.(1333-1335)GAG>CAG p.E445Q CDH1_uc010vlj.1_RNA|CDH1_uc010cfg.1_Missense_Mutation_p.E384Q NM_004360 NP_004351 P12830 CADH1_HUMAN cadherin 1, type 1 preproprotein 445 Cadherin 3.|Extracellular (Potential). adherens junction organization|cellular component disassembly involved in apoptosis|cellular response to indole-3-methanol|cellular response to lithium ion|homophilic cell adhesion|negative regulation of cell-cell adhesion|positive regulation of transcription factor import into nucleus|positive regulation of transcription, DNA-dependent|regulation of immune response actin cytoskeleton|aggresome|apical junction complex|catenin complex|cell-cell adherens junction|endosome|focal adhesion|Golgi apparatus|integral to membrane|internal side of plasma membrane|lateral plasma membrane|perinuclear region of cytoplasm cell adhesion molecule binding|gamma-catenin binding p.G441_E463del(1)|p.L442fs*18(1) breast(148)|stomach(71)|biliary_tract(8)|endometrium(3)|soft_tissue(2)|large_intestine(2)|urinary_tract(2)|oesophagus(2)|ovary(2)|thyroid(1)|central_nervous_system(1)|lung(1) 243 all_neural(199;0.0189)|Ovarian(137;0.0563) Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261) CTTGGATTTTGAGGCCAAGCA 0.418 Mis|N|F|S lobular breast|gastric gastric Hereditary_Diffuse_Gastric_Cancer 27 69 --- --- --- --- PASS ZNF23 7571 broad.mit.edu 37 16 71483060 71483060 + Missense_Mutation SNP T A A TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr16:71483060T>A uc002faf.2 - 6 1682 c.868A>T c.(868-870)AGC>TGC p.S290C ZNF23_uc002fad.2_Missense_Mutation_p.S232C|ZNF23_uc002fae.2_Missense_Mutation_p.S232C|ZNF23_uc010vmf.1_Missense_Mutation_p.S232C|ZNF23_uc002fag.2_Missense_Mutation_p.S232C|ZNF23_uc002fah.2_Missense_Mutation_p.S290C|ZNF23_uc002fai.2_Missense_Mutation_p.S329C NM_145911 NP_666016 P17027 ZNF23_HUMAN zinc finger protein 23 290 C2H2-type 5. 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) GAACTACAGCTGAAGCCATTT 0.443 32 115 --- --- --- --- PASS ZFHX3 463 broad.mit.edu 37 16 72821815 72821815 + Missense_Mutation SNP C A A TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr16:72821815C>A uc002fck.2 - 10 11033 c.10360G>T c.(10360-10362)GAC>TAC p.D3454Y ZFHX3_uc002fcl.2_Missense_Mutation_p.D2540Y NM_006885 NP_008816 Q15911 ZFHX3_HUMAN zinc finger homeobox 3 isoform A 3454 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) ATGAAGGGGTCGTAGAGGGAG 0.582 42 142 --- --- --- --- PASS ADAT1 23536 broad.mit.edu 37 16 75646400 75646400 + Nonsense_Mutation SNP T A A TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr16:75646400T>A uc002feo.1 - 7 886 c.784A>T c.(784-786)AAG>TAG p.K262* ADAT1_uc002fep.1_Nonsense_Mutation_p.K113* NM_012091 NP_036223 Q9BUB4 ADAT1_HUMAN adenosine deaminase, tRNA-specific 1 262 A to I editase. tRNA processing metal ion binding|RNA binding|tRNA-specific adenosine deaminase activity ovary(1)|skin(1) 2 GGTACACACTTGGCTCCAGTT 0.562 34 99 --- --- --- --- PASS CNTNAP4 85445 broad.mit.edu 37 16 76509861 76509861 + Missense_Mutation SNP G C C rs150806968 TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr16:76509861G>C uc002feu.1 + 13 2066 c.1681G>C c.(1681-1683)GGT>CGT p.G561R CNTNAP4_uc002fev.1_Missense_Mutation_p.G425R|CNTNAP4_uc010chb.1_Missense_Mutation_p.G488R|CNTNAP4_uc002fex.1_Missense_Mutation_p.G564R|CNTNAP4_uc002few.2_Missense_Mutation_p.G536R NM_033401 NP_207837 Q9C0A0 CNTP4_HUMAN cell recognition protein CASPR4 isoform 1 561 Extracellular (Potential).|EGF-like 1. cell adhesion|signal transduction integral to membrane receptor binding ovary(1)|pancreas(1) 2 TTGTGAACACGGTGGGGAGTG 0.428 8 67 --- --- --- --- PASS CNTNAP4 85445 broad.mit.edu 37 16 76556094 76556094 + Missense_Mutation SNP A T T TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr16:76556094A>T uc002feu.1 + 19 3080 c.2695A>T c.(2695-2697)ACA>TCA p.T899S CNTNAP4_uc002fev.1_Missense_Mutation_p.T763S|CNTNAP4_uc010chb.1_Missense_Mutation_p.T826S|CNTNAP4_uc002fex.1_Missense_Mutation_p.T902S NM_033401 NP_207837 Q9C0A0 CNTP4_HUMAN cell recognition protein CASPR4 isoform 1 899 Extracellular (Potential).|Laminin G-like 3. cell adhesion|signal transduction integral to membrane receptor binding ovary(1)|pancreas(1) 2 GACACCAAAGACACAGCCCGC 0.498 18 76 --- --- --- --- PASS NECAB2 54550 broad.mit.edu 37 16 84035944 84035944 + Missense_Mutation SNP G A A TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr16:84035944G>A uc002fhd.2 + 13 1171 c.1154G>A c.(1153-1155)CGG>CAG p.R385Q NECAB2_uc002fhe.2_Missense_Mutation_p.R302Q NM_019065 NP_061938 Q7Z6G3 NECA2_HUMAN neuronal calcium-binding protein 2 385 antibiotic biosynthetic process cytoplasm calcium ion binding|oxidoreductase activity|protein binding ovary(2) 2 ACGGTGGGACGGGACTGACAG 0.557 54 183 --- --- --- --- PASS TP53 7157 broad.mit.edu 37 17 7577536 7577536 + Missense_Mutation SNP T C C rs67185453 TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr17:7577536T>C uc002gim.2 - 7 939 c.745A>G c.(745-747)AGG>GGG p.R249G TP53_uc002gig.1_Missense_Mutation_p.R249G|TP53_uc002gih.2_Missense_Mutation_p.R249G|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R117G|TP53_uc010cng.1_Missense_Mutation_p.R117G|TP53_uc002gii.1_Missense_Mutation_p.R117G|TP53_uc010cnh.1_Missense_Mutation_p.R249G|TP53_uc010cni.1_Missense_Mutation_p.R249G|TP53_uc002gij.2_Missense_Mutation_p.R249G|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.R156G|TP53_uc002gio.2_Missense_Mutation_p.R117G NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 249 |Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). R -> W (in sporadic cancers; somatic mutation).|RP -> SA (in a sporadic cancer; somatic mutation).|RP -> SS (in sporadic cancers; somatic mutation).|R -> T (in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> I (in a sporadic cancer; somatic mutation).|R -> M (in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> K (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.R249S(303)|p.R249M(25)|p.R249G(24)|p.R249W(23)|p.R249T(16)|p.R249K(14)|p.0?(7)|p.R249R(6)|p.R249fs*96(6)|p.M246_P250delMNRRP(2)|p.R249fs*14(2)|p.N247_P250delNRRP(1)|p.R249fs*15(1)|p.R249_I251delRPI(1)|p.R249_P250delRP(1)|p.R249_P250insR(1)|p.N247_R248delNR(1)|p.R248_P250delRRP(1)|p.N247_R249delNRR(1)|p.R249_T256delRPILTIIT(1)|p.R249_P250>SS(1)|p.G245fs*14(1)|p.R249fs*19(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) AGGATGGGCCTCCGGTTCATG 0.567 111 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) 19 28 --- --- --- --- PASS MYH4 4622 broad.mit.edu 37 17 10348415 10348415 + Missense_Mutation SNP G A A TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr17:10348415G>A uc002gmn.2 - 37 5455 c.5344C>T c.(5344-5346)CAC>TAC p.H1782Y uc002gml.1_Intron NM_017533 NP_060003 Q9Y623 MYH4_HUMAN myosin, heavy polypeptide 4, skeletal muscle 1782 Potential. 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 CGCTCCAGGTGGGCGCTGGTG 0.517 100 91 --- --- --- --- PASS MYH2 4620 broad.mit.edu 37 17 10426914 10426914 + Missense_Mutation SNP T C C TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr17:10426914T>C uc010coi.2 - 37 5499 c.5371A>G c.(5371-5373)AAC>GAC p.N1791D uc002gml.1_Intron|MYH2_uc002gmp.3_Missense_Mutation_p.N1791D|MYH2_uc010coj.2_Intron NM_001100112 NP_001093582 Q9UKX2 MYH2_HUMAN myosin heavy chain IIa 1791 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 TGCTCCATGTTCTTCTTCATC 0.547 69 81 --- --- --- --- PASS TMEM99 147184 broad.mit.edu 37 17 38991086 38991086 + Nonsense_Mutation SNP G A A TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr17:38991086G>A uc002hvj.1 + 3 625 c.318G>A c.(316-318)TGG>TGA p.W106* NM_145274 NP_660317 Q8N816 TMM99_HUMAN transmembrane protein 99 precursor 106 Helical; (Potential). integral to membrane skin(1) 1 Breast(137;0.000301) TTGGCTCGTGGTTGCTCTTCA 0.473 5 226 --- --- --- --- PASS KRT13 3860 broad.mit.edu 37 17 39658702 39658702 + Missense_Mutation SNP T G G TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr17:39658702T>G uc002hwu.1 - 6 1231 c.1168A>C c.(1168-1170)ATG>CTG p.M390L KRT13_uc002hwv.1_Missense_Mutation_p.M390L|KRT13_uc002hww.2_Missense_Mutation_p.M283L|KRT13_uc010wfr.1_Missense_Mutation_p.M283L|KRT13_uc010cxo.2_Missense_Mutation_p.M390L|KRT13_uc002hwx.1_Missense_Mutation_p.M378L NM_153490 NP_705694 P13646 K1C13_HUMAN keratin 13 isoform a 390 Rod.|Coil 2. epidermis development intermediate filament structural molecule activity ovary(2)|skin(2)|pancreas(1) 5 Breast(137;0.000286) TCCAGCAGCATCTTGTACTCT 0.602 21 361 --- --- --- --- PASS KRT13 3860 broad.mit.edu 37 17 39658791 39658791 + Missense_Mutation SNP A C C TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr17:39658791A>C uc002hwu.1 - 6 1142 c.1079T>G c.(1078-1080)CTG>CGG p.L360R KRT13_uc002hwv.1_Missense_Mutation_p.L360R|KRT13_uc002hww.2_Missense_Mutation_p.L253R|KRT13_uc010wfr.1_Missense_Mutation_p.L253R|KRT13_uc010cxo.2_Missense_Mutation_p.L360R|KRT13_uc002hwx.1_Missense_Mutation_p.L348R NM_153490 NP_705694 P13646 K1C13_HUMAN keratin 13 isoform a 360 Rod.|Coil 2. epidermis development intermediate filament structural molecule activity ovary(2)|skin(2)|pancreas(1) 5 Breast(137;0.000286) GATCTGCTGCAGCTGCAGGGC 0.602 9 245 --- --- --- --- PASS KRT16 3868 broad.mit.edu 37 17 39767629 39767629 + Missense_Mutation SNP C G G TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr17:39767629C>G uc002hxg.3 - 3 878 c.739G>C c.(739-741)GAG>CAG p.E247Q JUP_uc010wfs.1_Intron NM_005557 NP_005548 P08779 K1C16_HUMAN keratin 16 247 Coil 1B.|Rod. cell proliferation|epidermis development intermediate filament protein binding|structural constituent of cytoskeleton skin(1) 1 Breast(137;0.000307) TAGGCCAGCTCCTCCTTCAGG 0.642 43 60 --- --- --- --- PASS C17orf53 78995 broad.mit.edu 37 17 42230141 42230141 + Missense_Mutation SNP G T T TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr17:42230141G>T uc002ifi.1 + 5 1630 c.1445G>T c.(1444-1446)CGC>CTC p.R482L C17orf53_uc010czq.1_Missense_Mutation_p.R482L|C17orf53_uc002ifj.1_Intron|C17orf53_uc002ifk.1_Intron NM_024032 NP_076937 Q8N3J3 CQ053_HUMAN hypothetical protein LOC78995 482 0 Breast(137;0.0364)|Prostate(33;0.0376) BRCA - Breast invasive adenocarcinoma(366;0.114) ATGGTGCTGCGCAAGGTAAGG 0.542 41 78 --- --- --- --- PASS HOXB1 3211 broad.mit.edu 37 17 46607865 46607865 + Silent SNP C A A rs141645068 TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr17:46607865C>A uc002ink.1 - 1 408 c.402G>T c.(400-402)CCG>CCT p.P134P NM_002144 NP_002135 P14653 HXB1_HUMAN homeobox B1 134 nucleus protein domain specific binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 GATATGGCCCCGGACCGGCTC 0.612 3 63 --- --- --- --- PASS COL1A1 1277 broad.mit.edu 37 17 48271336 48271336 + Missense_Mutation SNP C T T TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr17:48271336C>T uc002iqm.2 - 25 1861 c.1735G>A c.(1735-1737)GTG>ATG p.V579M NM_000088 NP_000079 P02452 CO1A1_HUMAN alpha 1 type I collagen preproprotein 579 Triple-helical region. axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception collagen type I|extracellular space|plasma membrane identical protein binding|platelet-derived growth factor binding COL1A1/PDGFB(372) soft_tissue(372)|central_nervous_system(7)|skin(1)|breast(1)|pancreas(1) 382 Collagenase(DB00048)|Palifermin(DB00039) AATCCCATCACACCAGCCTGA 0.493 T PDGFB|USP6 dermatofibrosarcoma protuberans|aneurysmal bone cyst Osteogenesis imperfecta 37 50 --- --- --- --- PASS WFIKKN2 124857 broad.mit.edu 37 17 48917584 48917584 + Missense_Mutation SNP C T T TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr17:48917584C>T uc002isv.3 + 2 1629 c.935C>T c.(934-936)GCC>GTC p.A312V WFIKKN2_uc010dbu.2_Missense_Mutation_p.A219V NM_175575 NP_783165 Q8TEU8 WFKN2_HUMAN WFIKKN2 protein 312 extracellular region metalloendopeptidase inhibitor activity|protein binding|serine-type endopeptidase inhibitor activity ovary(2)|skin(1) 3 BRCA - Breast invasive adenocarcinoma(22;1.09e-08) CAGGCTGCAGCCACCTCAGAG 0.662 29 21 --- --- --- --- PASS KIF2B 84643 broad.mit.edu 37 17 51901916 51901916 + Missense_Mutation SNP A G G TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr17:51901916A>G uc002iua.2 + 1 1678 c.1522A>G c.(1522-1524)ATA>GTA p.I508V uc010wna.1_RNA NM_032559 NP_115948 Q8N4N8 KIF2B_HUMAN kinesin family member 2B 508 blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle ATP binding|microtubule motor activity ovary(5)|skin(3) 8 GGACTCCTTTATAGGCCAGAA 0.473 26 49 --- --- --- --- PASS TRIM37 4591 broad.mit.edu 37 17 57134397 57134397 + Missense_Mutation SNP C G G TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr17:57134397C>G uc002iwy.3 - 13 1482 c.1038G>C c.(1036-1038)GAG>GAC p.E346D TRIM37_uc002iwz.3_Missense_Mutation_p.E346D|TRIM37_uc002ixa.3_Missense_Mutation_p.E224D|TRIM37_uc010woc.1_Missense_Mutation_p.E312D NM_001005207 NP_001005207 O94972 TRI37_HUMAN tripartite motif-containing 37 protein 346 MATH. perinuclear region of cytoplasm|peroxisome ligase activity|protein binding|zinc ion binding lung(2)|pancreas(2)|ovary(1)|skin(1)|breast(1) 7 Medulloblastoma(34;0.0922)|all_neural(34;0.101) GGTGAACCATCTCTACACGAT 0.318 Mulibrey_Nanism 23 84 --- --- --- --- PASS TRIM65 201292 broad.mit.edu 37 17 73888574 73888574 + Missense_Mutation SNP G T T TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr17:73888574G>T uc002jpx.2 - 3 554 c.518C>A c.(517-519)GCC>GAC p.A173D NM_173547 NP_775818 Q6PJ69 TRI65_HUMAN tripartite motif-containing 65 173 Potential. intracellular zinc ion binding 0 Epithelial(20;7.53e-06)|all cancers(21;9.11e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00092)|LUSC - Lung squamous cell carcinoma(166;0.154) CAAGATGCAGGCCGAGTTCTG 0.647 7 61 --- --- --- --- PASS SOCS3 9021 broad.mit.edu 37 17 76354708 76354708 + Missense_Mutation SNP G A A TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr17:76354708G>A uc002jvl.2 - 2 885 c.469C>T c.(469-471)CCT>TCT p.P157S NM_003955 NP_003946 O14543 SOCS3_HUMAN suppressor of cytokine signaling 3 157 anti-apoptosis|interferon-gamma-mediated signaling pathway|JAK-STAT cascade|regulation of growth|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway cytosol protein kinase inhibitor activity ovary(1) 1 BRCA - Breast invasive adenocarcinoma(99;0.000688)|OV - Ovarian serous cystadenocarcinoma(97;0.0554) GGACTCCCAGGGAGTGGCTGG 0.662 26 35 --- --- --- --- PASS PPP4R1 9989 broad.mit.edu 37 18 9553390 9553390 + Missense_Mutation SNP G C C TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr18:9553390G>C uc002koe.1 - 16 2339 c.2221C>G c.(2221-2223)CTT>GTT p.L741V PPP4R1_uc002kof.2_Missense_Mutation_p.L158V|PPP4R1_uc010wzo.1_Missense_Mutation_p.L587V|PPP4R1_uc002kod.1_Missense_Mutation_p.L724V NM_001042388 NP_001035847 Q8TF05 PP4R1_HUMAN protein phosphatase 4, regulatory subunit 1 741 protein phosphorylation|signal transduction protein phosphatase 4 complex protein binding|protein phosphatase type 4 regulator activity skin(1) 1 AGTTGATAAAGATATTCTCTT 0.318 24 57 --- --- --- --- PASS HRH4 59340 broad.mit.edu 37 18 22048908 22048908 + Nonsense_Mutation SNP C G G TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr18:22048908C>G uc002kvi.2 + 2 450 c.350C>G c.(349-351)TCA>TGA p.S117* HRH4_uc010xbd.1_Intron|HRH4_uc010dlx.2_Intron NM_021624 NP_067637 Q9H3N8 HRH4_HUMAN histamine H4 receptor isoform 1 117 Cytoplasmic (Potential). integral to membrane|plasma membrane histamine receptor activity ovary(2) 2 all_cancers(21;0.000545)|all_epithelial(16;6.56e-06)|Lung NSC(20;0.0027)|all_lung(20;0.0085)|Colorectal(14;0.0361)|Ovarian(20;0.0991) Clozapine(DB00363) CTGTCAGTCTCAAATGCTGTA 0.343 73 78 --- --- --- --- PASS ZNF521 25925 broad.mit.edu 37 18 22804463 22804463 + Missense_Mutation SNP C A A TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr18:22804463C>A uc002kvk.2 - 4 3666 c.3419G>T c.(3418-3420)TGC>TTC p.C1140F ZNF521_uc010xbe.1_RNA|ZNF521_uc010dly.2_Missense_Mutation_p.C1140F|ZNF521_uc002kvl.2_Missense_Mutation_p.C920F NM_015461 NP_056276 Q96K83 ZN521_HUMAN zinc finger protein 521 1140 C2H2-type 26. cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein domain specific binding|zinc ion binding ovary(4)|large_intestine(2)|lung(1) 7 all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991) GCAGCTAGAGCAGCGTGTCTT 0.532 T PAX5 ALL 35 125 --- --- --- --- PASS CDH2 1000 broad.mit.edu 37 18 25593741 25593741 + Missense_Mutation SNP A G G TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr18:25593741A>G uc002kwg.2 - 3 764 c.305T>C c.(304-306)TTC>TCC p.F102S CDH2_uc010xbn.1_Missense_Mutation_p.F71S NM_001792 NP_001783 P19022 CADH2_HUMAN cadherin 2, type 1 preproprotein 102 adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation catenin complex|integral to membrane alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding ovary(3)|lung(1) 4 ATATATCAGGAACTTGGCATG 0.463 59 373 --- --- --- --- PASS DSC1 1823 broad.mit.edu 37 18 28713956 28713956 + Missense_Mutation SNP C G G TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr18:28713956C>G uc002kwn.2 - 13 2276 c.2014G>C c.(2014-2016)GAG>CAG p.E672Q DSC1_uc002kwm.2_Missense_Mutation_p.E672Q NM_024421 NP_077739 Q08554 DSC1_HUMAN desmocollin 1 isoform Dsc1a preproprotein 672 Extracellular (Potential).|Cadherin 5. homophilic cell adhesion desmosome|gap junction|integral to membrane|membrane fraction calcium ion binding ovary(3)|skin(1) 4 OV - Ovarian serous cystadenocarcinoma(10;0.00778) ATTCTACACTCAGATGGAGTT 0.353 146 198 --- --- --- --- PASS GALNT1 2589 broad.mit.edu 37 18 33272176 33272176 + Silent SNP G A A TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr18:33272176G>A uc010dmu.2 + 9 1244 c.1191G>A c.(1189-1191)TCG>TCA p.S397S GALNT1_uc002kyz.3_Silent_p.S337S|GALNT1_uc002kzb.2_Silent_p.S397S NM_020474 NP_065207 Q10472 GALT1_HUMAN polypeptide N-acetylgalactosaminyltransferase 1 397 Lumenal (Potential). protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine extracellular region|Golgi cisterna membrane|integral to membrane|perinuclear region of cytoplasm manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding ovary(2) 2 GAGATATATCGTCAAGAGTTG 0.318 48 358 --- --- --- --- PASS KIAA1632 57724 broad.mit.edu 37 18 43438727 43438727 + Nonsense_Mutation SNP C A A TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr18:43438727C>A uc002lbm.2 - 41 7130 c.7030G>T c.(7030-7032)GGA>TGA p.G2344* KIAA1632_uc010xcq.1_Nonsense_Mutation_p.G898*|KIAA1632_uc010xcr.1_RNA|KIAA1632_uc010xcs.1_RNA|KIAA1632_uc002lbn.2_Nonsense_Mutation_p.G1219* NM_020964 NP_066015 Q9HCE0 EPG5_HUMAN hypothetical protein LOC57724 2344 autophagy 0 GGTCCCCATCCTGAATTCTGA 0.443 46 110 --- --- --- --- PASS STARD6 147323 broad.mit.edu 37 18 51851222 51851222 + Missense_Mutation SNP A G G TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr18:51851222A>G uc010xdt.1 - 6 503 c.503T>C c.(502-504)GTG>GCG p.V168A NM_139171 NP_631910 P59095 STAR6_HUMAN START domain containing protein 6 168 START. lipid transport lipid binding ovary(1) 1 Colorectal(16;0.021)|READ - Rectum adenocarcinoma(59;0.188) GACAAACATCACTAGTTTGGA 0.333 37 101 --- --- --- --- PASS ST8SIA3 51046 broad.mit.edu 37 18 55020104 55020104 + Silent SNP C A A TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr18:55020104C>A uc002lgn.2 + 1 384 c.27C>A c.(25-27)GTC>GTA p.V9V NM_015879 NP_056963 O43173 SIA8C_HUMAN ST8 alpha-N-acetyl-neuraminide 9 Cytoplasmic (Potential). glycosphingolipid biosynthetic process|N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine integral to Golgi membrane alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity breast(1)|skin(1) 2 READ - Rectum adenocarcinoma(59;0.19)|Colorectal(16;0.205) TGGCCCGGGTCGCCAGTGTGC 0.572 20 45 --- --- --- --- PASS ALPK2 115701 broad.mit.edu 37 18 56274632 56274632 + Missense_Mutation SNP T G G TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr18:56274632T>G uc002lhj.3 - 3 363 c.149A>C c.(148-150)CAG>CCG p.Q50P NM_052947 NP_443179 Q86TB3 ALPK2_HUMAN heart alpha-kinase 50 Ig-like 1. ATP binding|protein serine/threonine kinase activity ovary(7)|skin(5)|lung(1)|central_nervous_system(1) 14 ATCGATGGCCTGACCATTCTT 0.363 40 107 --- --- --- --- PASS PIGN 23556 broad.mit.edu 37 18 59768385 59768385 + Missense_Mutation SNP A G G TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr18:59768385A>G uc002lii.3 - 23 2448 c.2000T>C c.(1999-2001)GTG>GCG p.V667A PIGN_uc002lij.3_Missense_Mutation_p.V667A NM_176787 NP_789744 O95427 PIGN_HUMAN phosphatidylinositol glycan anchor biosynthesis, 667 Helical; (Potential). C-terminal protein lipidation|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|integral to membrane phosphotransferase activity, for other substituted phosphate groups breast(2)|upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1) 5 Colorectal(73;0.187) AGTGCTATACACAACATACAT 0.398 34 99 --- --- --- --- PASS ZNF236 7776 broad.mit.edu 37 18 74620347 74620347 + Missense_Mutation SNP A T T TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr18:74620347A>T uc002lmi.2 + 14 2561 c.2363A>T c.(2362-2364)CAG>CTG p.Q788L ZNF236_uc002lmj.2_RNA NM_007345 NP_031371 Q9UL36 ZN236_HUMAN zinc finger protein 236 788 cellular response to glucose stimulus nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(4) 4 Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132) OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686) GTAGACCAGCAGAGCATGCAG 0.562 72 122 --- --- --- --- PASS MUC16 94025 broad.mit.edu 37 19 8999556 8999556 + Missense_Mutation SNP T A A TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr19:8999556T>A uc002mkp.2 - 56 40823 c.40619A>T c.(40618-40620)AAG>ATG p.K13540M MUC16_uc010dwi.2_RNA|MUC16_uc010dwj.2_Missense_Mutation_p.K357M|MUC16_uc010xki.1_RNA NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 13542 SEA 10.|Extracellular (Potential). Missing (in Ref. 3; AAK74120). 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 TGCCCCATCCTTCTTGGGCCT 0.602 37 28 --- --- --- --- PASS FAM125A 93343 broad.mit.edu 37 19 17531190 17531190 + Silent SNP C T T rs142361127 TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr19:17531190C>T uc002ngo.1 + 2 192 c.159C>T c.(157-159)TTC>TTT p.F53F FAM125A_uc002ngn.1_Silent_p.F53F|FAM125A_uc002ngp.1_5'UTR|FAM125A_uc002ngq.1_5'Flank NM_138401 NP_612410 Q96EY5 F125A_HUMAN family with sequence similarity 125, member A 53 MABP. protein transport late endosome membrane|microtubule organizing center|nucleus SH3 domain binding 0 CTGGCTACTTCCTGTGCCTTA 0.637 31 27 --- --- --- --- PASS PIK3R2 5296 broad.mit.edu 37 19 18279951 18279951 + Silent SNP C G G TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr19:18279951C>G uc002nia.1 + 16 2546 c.2034C>G c.(2032-2034)GGC>GGG p.G678G PIK3R2_uc002nib.1_RNA|PIK3R2_uc010ebi.1_RNA NM_005027 NP_005018 O00459 P85B_HUMAN phosphoinositide-3-kinase, regulatory subunit 2 678 SH2 2. fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|negative regulation of anti-apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|T cell costimulation|T cell receptor signaling pathway phosphatidylinositol 3-kinase complex GTPase activator activity|phosphatidylinositol 3-kinase regulator activity|protein binding lung(2)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|pancreas(1) 6 CCGGCTTCGGCTTCGCGGAGC 0.677 17 12 --- --- --- --- PASS KLHL26 55295 broad.mit.edu 37 19 18779381 18779381 + Missense_Mutation SNP C T T rs141330016 by1000genomes TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr19:18779381C>T uc002njz.1 + 3 1201 c.1174C>T c.(1174-1176)CGC>TGC p.R392C NM_018316 NP_060786 Q53HC5 KLH26_HUMAN kelch-like 26 392 Kelch 2. ovary(1) 1 CCACCTGAATCGCTGGCTGCG 0.677 7 1 --- --- --- --- PASS SFRS14 10147 broad.mit.edu 37 19 19115332 19115332 + Silent SNP C A A TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr19:19115332C>A uc002nkx.2 - 7 2720 c.2574G>T c.(2572-2574)ACG>ACT p.T858T SFRS14_uc002nkz.1_Silent_p.T872T|SFRS14_uc002nla.1_Silent_p.T858T|SFRS14_uc002nlb.2_Silent_p.T858T|SFRS14_uc010xqk.1_Silent_p.T627T NM_014884 NP_055699 Q8IX01 SUGP2_HUMAN splicing factor, arginine/serine-rich 14 858 mRNA processing|RNA splicing nucleus RNA binding 0 OV - Ovarian serous cystadenocarcinoma(5;3.05e-05)|Epithelial(12;0.00161) CCTGAGAACCCGTGGTGTCAC 0.537 4 127 --- --- --- --- PASS RFXANK 8625 broad.mit.edu 37 19 19308355 19308355 + Silent SNP C T T rs139803434 byFrequency TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr19:19308355C>T uc002nls.2 + 6 868 c.363C>T c.(361-363)GAC>GAT p.D121D RFXANK_uc002nlt.2_Silent_p.D98D|RFXANK_uc002nlu.2_Silent_p.D99D|RFXANK_uc002nlv.2_Silent_p.D121D|RFXANK_uc002nlw.2_Silent_p.D120D NM_003721 NP_003712 O14593 RFXK_HUMAN regulatory factor X-associated 121 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity ovary(2) 2 Epithelial(12;0.00228) ACAAGCCAGACGAGCGCGGCT 0.652 7 35 --- --- --- --- PASS ZNF99 7652 broad.mit.edu 37 19 22952023 22952023 + Missense_Mutation SNP T A A TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr19:22952023T>A uc010xrh.1 - 2 170 c.170A>T c.(169-171)AAC>ATC p.N57I 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) GTTTCTGTAGTTCTCTAACAT 0.388 5 100 --- --- --- --- PASS ZNF91 7644 broad.mit.edu 37 19 23542902 23542902 + Missense_Mutation SNP T C C TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr19:23542902T>C uc002nre.2 - 4 2992 c.2879A>G c.(2878-2880)CAT>CGT p.H960R ZNF91_uc002nrd.2_5'Flank|ZNF91_uc010xrj.1_Missense_Mutation_p.H928R NM_003430 NP_003421 Q05481 ZNF91_HUMAN zinc finger protein 91 960 C2H2-type 29. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611) CTCTCCAGTATGAATTATCTT 0.383 55 60 --- --- --- --- PASS ZNF91 7644 broad.mit.edu 37 19 23544923 23544923 + Missense_Mutation SNP C A A TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr19:23544923C>A uc002nre.2 - 4 971 c.858G>T c.(856-858)AGG>AGT p.R286S ZNF91_uc010xrj.1_Missense_Mutation_p.R254S NM_003430 NP_003421 Q05481 ZNF91_HUMAN zinc finger protein 91 286 C2H2-type 5. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611) CAGTGTGTATCCTCTTATGTC 0.373 72 91 --- --- --- --- PASS CCDC123 84902 broad.mit.edu 37 19 33439273 33439273 + Missense_Mutation SNP A G G TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr19:33439273A>G uc002nty.2 - 5 583 c.494T>C c.(493-495)GTG>GCG p.V165A CCDC123_uc002ntx.2_5'UTR|CCDC123_uc010edg.2_RNA|CCDC123_uc002ntz.1_Missense_Mutation_p.V165A|CCDC123_uc002nua.2_Missense_Mutation_p.V165A|CCDC123_uc002nub.1_Missense_Mutation_p.V57A NM_032816 NP_116205 Q96ST8 CEP89_HUMAN coiled-coil domain containing 123 165 centrosome|spindle pole 0 Esophageal squamous(110;0.137) TAACAATGGCACCTTTTTGTT 0.403 10 34 --- --- --- --- PASS ZNF302 55900 broad.mit.edu 37 19 35175835 35175835 + Missense_Mutation SNP C G G TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr19:35175835C>G uc002nvr.1 + 6 1288 c.1025C>G c.(1024-1026)TCC>TGC p.S342C ZNF302_uc002nvp.1_Missense_Mutation_p.S298C|ZNF302_uc002nvq.1_Missense_Mutation_p.S298C|ZNF302_uc002nvs.1_Missense_Mutation_p.S298C NM_018443 NP_060913 Q9NR11 ZN302_HUMAN zinc finger protein 302 377 C2H2-type 4. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_lung(56;6.16e-07)|Lung NSC(56;9.71e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0849) AGTCGTGTGTCCCTTCTCATT 0.428 11 248 --- --- --- --- PASS ZNF302 55900 broad.mit.edu 37 19 35175852 35175852 + Missense_Mutation SNP C G G TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr19:35175852C>G uc002nvr.1 + 6 1305 c.1042C>G c.(1042-1044)CTA>GTA p.L348V ZNF302_uc002nvp.1_Missense_Mutation_p.L304V|ZNF302_uc002nvq.1_Missense_Mutation_p.L304V|ZNF302_uc002nvs.1_Missense_Mutation_p.L304V NM_018443 NP_060913 Q9NR11 ZN302_HUMAN zinc finger protein 302 383 C2H2-type 4. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_lung(56;6.16e-07)|Lung NSC(56;9.71e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0849) CATTCAGCATCTAAGAATTCA 0.418 14 247 --- --- --- --- PASS ZNF146 7705 broad.mit.edu 37 19 36727715 36727715 + Nonsense_Mutation SNP G T T TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr19:36727715G>T uc002odq.3 + 4 1896 c.373G>T c.(373-375)GAG>TAG p.E125* ZNF146_uc010eet.2_Nonsense_Mutation_p.E125*|ZNF146_uc010eeu.2_Nonsense_Mutation_p.E125* NM_007145 NP_009076 Q15072 OZF_HUMAN zinc finger protein 146 125 regulation of transcription, DNA-dependent cytoplasm|nucleolus DNA binding|heparin binding|zinc ion binding 0 Esophageal squamous(110;0.162) TCACACAGGAGAGAAGCCCTT 0.408 64 234 --- --- --- --- PASS SUPT5H 6829 broad.mit.edu 37 19 39955614 39955614 + Silent SNP G A A TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr19:39955614G>A uc002olo.3 + 11 980 c.801G>A c.(799-801)GTG>GTA p.V267V SUPT5H_uc002olp.3_Silent_p.V267V|SUPT5H_uc002olq.3_Silent_p.V263V|SUPT5H_uc002oln.3_Silent_p.V267V|SUPT5H_uc002olr.3_Silent_p.V267V|SUPT5H_uc002ols.1_5'Flank NM_001111020 NP_001104490 O00267 SPT5H_HUMAN suppressor of Ty 5 homolog isoform a 267 Interaction with SUPT4H1. cell cycle|chromatin remodeling|mRNA capping|negative regulation of transcription elongation, DNA-dependent|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription elongation from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|response to organic substance|retroviral genome replication|transcription elongation from RNA polymerase II promoter nucleoplasm enzyme binding|protein heterodimerization activity ovary(3)|pancreas(1) 4 all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159) Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657) TCAAAGTGGTGAAGGAGGTGG 0.607 40 717 --- --- --- --- PASS FCGBP 8857 broad.mit.edu 37 19 40433534 40433534 + Silent SNP C T T rs142265008 TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr19:40433534C>T uc002omp.3 - 2 743 c.735G>A c.(733-735)ACG>ACA p.T245T NM_003890 NP_003881 Q9Y6R7 FCGBP_HUMAN Fc fragment of IgG binding protein precursor 245 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) CCCAGGCAGACGTGGGTAGCA 0.582 54 331 --- --- --- --- PASS KLK3 354 broad.mit.edu 37 19 51359544 51359544 + Missense_Mutation SNP A G G TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr19:51359544A>G uc002pts.1 + 2 136 c.95A>G c.(94-96)GAG>GGG p.E32G KLK3_uc002ptp.1_Missense_Mutation_p.E32G|KLK3_uc010ycj.1_Missense_Mutation_p.E32G|KLK3_uc002ptr.1_Missense_Mutation_p.E32G|KLK3_uc010eof.1_RNA NM_001030047 NP_001025218 P07288 KLK3_HUMAN prostate specific antigen isoform 3 32 Peptidase S1. negative regulation of angiogenesis|proteolysis extracellular region serine-type endopeptidase activity upper_aerodigestive_tract(1)|ovary(1)|kidney(1) 3 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00763)|GBM - Glioblastoma multiforme(134;0.0144) TGGGAGTGCGAGAAGCATTCC 0.637 68 68 --- --- --- --- PASS NLRP11 204801 broad.mit.edu 37 19 56321463 56321463 + Silent SNP G A A TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr19:56321463G>A uc010ygf.1 - 5 1224 c.513C>T c.(511-513)ATC>ATT p.I171I NLRP11_uc002qlz.2_Silent_p.I72I|NLRP11_uc002qmb.2_Silent_p.I72I|NLRP11_uc002qmc.2_RNA|NLRP11_uc010ete.1_RNA NM_145007 NP_659444 P59045 NAL11_HUMAN NLR family, pyrin domain containing 11 171 NACHT. ATP binding ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 6 Colorectal(82;0.0002) GBM - Glioblastoma multiforme(193;0.0325) TCTCACCCTTGATCCACCTCA 0.453 36 30 --- --- --- --- PASS SNPH 9751 broad.mit.edu 37 20 1285934 1285934 + Missense_Mutation SNP G A A TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr20:1285934G>A uc002wes.2 + 6 957 c.721G>A c.(721-723)GCA>ACA p.A241T SNPH_uc002wet.2_Missense_Mutation_p.A285T NM_014723 NP_055538 O15079 SNPH_HUMAN syntaphilin 241 synaptic vesicle docking involved in exocytosis cell junction|integral to membrane|synapse|synaptosome syntaxin-1 binding ovary(2) 2 TGAGGATGGGGCAGACAGTGG 0.667 7 37 --- --- --- --- PASS PAK7 57144 broad.mit.edu 37 20 9520247 9520247 + Silent SNP C A A TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr20:9520247C>A uc002wnl.2 - 11 2567 c.2022G>T c.(2020-2022)CGG>CGT p.R674R PAK7_uc002wnk.2_Silent_p.R674R|PAK7_uc002wnj.2_Silent_p.R674R|PAK7_uc010gby.1_Silent_p.R587R NM_020341 NP_065074 Q9P286 PAK7_HUMAN p21-activated kinase 7 674 Protein kinase. ATP binding|protein binding|protein serine/threonine kinase activity lung(11)|skin(5)|central_nervous_system(3)|ovary(2)|large_intestine(1)|stomach(1) 23 COAD - Colon adenocarcinoma(9;0.194) CTAGGAATCCCCGGAGCACTG 0.488 138 164 --- --- --- --- PASS PAK7 57144 broad.mit.edu 37 20 9538334 9538334 + Missense_Mutation SNP G T T TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr20:9538334G>T uc002wnl.2 - 8 2209 c.1664C>A c.(1663-1665)GCT>GAT p.A555D PAK7_uc002wnk.2_Missense_Mutation_p.A555D|PAK7_uc002wnj.2_Missense_Mutation_p.A555D|PAK7_uc010gby.1_Missense_Mutation_p.A555D NM_020341 NP_065074 Q9P286 PAK7_HUMAN p21-activated kinase 7 555 Protein kinase. ATP binding|protein binding|protein serine/threonine kinase activity lung(11)|skin(5)|central_nervous_system(3)|ovary(2)|large_intestine(1)|stomach(1) 23 COAD - Colon adenocarcinoma(9;0.194) GTAGGAGAGAGCTCTCAGAAC 0.428 61 74 --- --- --- --- PASS NCOA6 23054 broad.mit.edu 37 20 33328472 33328472 + Missense_Mutation SNP C A A TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr20:33328472C>A uc002xav.2 - 12 8159 c.5588G>T c.(5587-5589)GGG>GTG p.G1863V NCOA6_uc002xaw.2_Missense_Mutation_p.G1863V NM_014071 NP_054790 Q14686 NCOA6_HUMAN nuclear receptor coactivator 6 1863 EP300/CRSP3-binding region. brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter transcription factor complex chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding ovary(3)|breast(3)|central_nervous_system(1) 7 TCCCATGAGCCCCGGAGCTGT 0.537 107 141 --- --- --- --- PASS C20orf117 140710 broad.mit.edu 37 20 35443639 35443639 + Missense_Mutation SNP C T T TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr20:35443639C>T uc002xgd.1 - 5 1819 c.1492G>A c.(1492-1494)GGG>AGG p.G498R C20orf117_uc002xge.1_RNA NM_199181 NP_954650 O94964 K0889_HUMAN hypothetical protein LOC140710 isoform 2 498 0 Myeloproliferative disorder(115;0.00874) ACAGAGCACCCGAGGACTGCA 0.607 46 169 --- --- --- --- PASS R3HDML 140902 broad.mit.edu 37 20 42969916 42969916 + Missense_Mutation SNP G C C TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr20:42969916G>C uc002xls.1 + 2 514 c.342G>C c.(340-342)ATG>ATC p.M114I NM_178491 NP_848586 Q9H3Y0 CRSPL_HUMAN R3H domain containing-like precursor 114 extracellular region peptidase inhibitor activity 0 Myeloproliferative disorder(115;0.028) COAD - Colon adenocarcinoma(18;0.00189) CACAGCTGATGAGATACGTGG 0.498 26 43 --- --- --- --- PASS SYS1-DBNDD2 767557 broad.mit.edu 37 20 44037115 44037115 + Missense_Mutation SNP C G G TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr20:44037115C>G uc002xnx.2 + 4 504 c.8C>G c.(7-9)CCA>CGA p.P3R DBNDD2_uc002xnz.2_Missense_Mutation_p.P3R|DBNDD2_uc002xoa.2_Missense_Mutation_p.P3R|DBNDD2_uc002xob.2_Missense_Mutation_p.P3R|DBNDD2_uc002xoc.2_Missense_Mutation_p.P3R|DBNDD2_uc002xod.2_Missense_Mutation_p.P3R|DBNDD2_uc002xoe.2_Missense_Mutation_p.P3R|DBNDD2_uc002xof.2_Missense_Mutation_p.P3R|DBNDD2_uc002xog.2_Missense_Mutation_p.P3R NM_001048225 NP_001041690 SCF apoptosis response protein 1 isoform a 0 GACATGGACCCAAATCCTCGG 0.577 14 92 --- --- --- --- PASS CDH22 64405 broad.mit.edu 37 20 44869816 44869816 + Silent SNP G T T TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr20:44869816G>T uc002xrm.2 - 2 737 c.336C>A c.(334-336)ATC>ATA p.I112I CDH22_uc010ghk.1_Silent_p.I112I NM_021248 NP_067071 Q9UJ99 CAD22_HUMAN cadherin 22 precursor 112 Extracellular (Potential).|Cadherin 1. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(4)|skin(1) 5 Myeloproliferative disorder(115;0.0122) TCAGCTCGTCGATCAGGAAGA 0.617 18 43 --- --- --- --- PASS DIDO1 11083 broad.mit.edu 37 20 61528146 61528146 + Silent SNP C T T rs140512956 TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr20:61528146C>T uc002ydr.1 - 7 2055 c.1791G>A c.(1789-1791)AGG>AGA p.R597R DIDO1_uc002yds.1_Silent_p.R597R|DIDO1_uc002ydt.1_Silent_p.R597R|DIDO1_uc002ydu.1_Silent_p.R597R NM_033081 NP_149072 Q9BTC0 DIDO1_HUMAN death inducer-obliterator 1 isoform c 597 apoptosis|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding ovary(3)|skin(3) 6 Breast(26;5.68e-08) AGAGCCATGGCCTCTTGGGGA 0.592 26 106 --- --- --- --- PASS PRIC285 85441 broad.mit.edu 37 20 62196785 62196785 + Silent SNP G A A TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr20:62196785G>A uc002yfm.2 - 9 4282 c.3390C>T c.(3388-3390)CGC>CGT p.R1130R PRIC285_uc002yfl.1_Silent_p.R561R NM_001037335 NP_001032412 Q9BYK8 PR285_HUMAN PPAR-alpha interacting complex protein 285 1130 cellular lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm ATP binding|DNA binding|helicase activity|ribonuclease activity|RNA binding|transcription coactivator activity|zinc ion binding central_nervous_system(2) 2 all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13) Epithelial(9;1.27e-08)|all cancers(9;7.32e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06) AAGAGCAGTGGCGGTACCGCT 0.706 4 4 --- --- --- --- PASS NPBWR2 2832 broad.mit.edu 37 20 62737593 62737593 + Missense_Mutation SNP C A A TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr20:62737593C>A uc011abt.1 - 1 592 c.592G>T c.(592-594)GGG>TGG p.G198W NM_005286 NP_005277 P48146 NPBW2_HUMAN neuropeptides B/W receptor 2 198 Extracellular (Potential). plasma membrane opioid receptor activity|protein binding large_intestine(1) 1 all_cancers(38;2.58e-11)|all_epithelial(29;6.4e-13)|Lung NSC(23;1.25e-09)|all_lung(23;4.21e-09) AAGCTCAGCCCACAGCTTGGG 0.632 10 31 --- --- --- --- PASS RBM11 54033 broad.mit.edu 37 21 15591942 15591942 + Missense_Mutation SNP T C C TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr21:15591942T>C uc002yjo.3 + 2 197 c.155T>C c.(154-156)TTT>TCT p.F52S RBM11_uc002yjn.3_5'UTR|RBM11_uc002yjp.3_Intron NM_144770 NP_658983 P57052 RBM11_HUMAN RNA binding motif protein 11 52 RRM. nucleotide binding|RNA binding 0 Epithelial(23;0.000314)|COAD - Colon adenocarcinoma(22;0.00242)|Colorectal(24;0.0129)|Lung(58;0.141) CCAAAGTCTTTTGGATTTGTC 0.373 18 10 --- --- --- --- PASS SFRS15 57466 broad.mit.edu 37 21 33074095 33074095 + Silent SNP G T T TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr21:33074095G>T uc002ypd.2 - 6 1020 c.594C>A c.(592-594)GGC>GGA p.G198G SFRS15_uc002ype.2_Silent_p.G198G|SFRS15_uc010glu.2_Silent_p.G183G|SFRS15_uc002ypf.1_5'UTR|SFRS15_uc002ypg.2_Silent_p.G198G NM_020706 NP_065757 O95104 SFR15_HUMAN splicing factor, arginine/serine-rich 15 isoform 198 nucleus nucleotide binding|RNA binding 0 TTACCTGTTGGCCTTGAGTTG 0.453 21 27 --- --- --- --- PASS POTEH 23784 broad.mit.edu 37 22 16287437 16287437 + Missense_Mutation SNP C A A TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr22:16287437C>A uc010gqp.2 - 1 501 c.449G>T c.(448-450)GGC>GTC p.G150V POTEH_uc002zlg.1_5'Flank|POTEH_uc002zlh.1_5'Flank|POTEH_uc002zlj.1_Intron NM_001136213 NP_001129685 Q6S545 POTEH_HUMAN ANKRD26-like family C, member 3 150 skin(1) 1 TTTGTTCTTGCCGCTCCCCCT 0.592 47 190 --- --- --- --- PASS C22orf29 79680 broad.mit.edu 37 22 19839124 19839124 + Missense_Mutation SNP C G G TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr22:19839124C>G uc002zqg.2 - 2 1260 c.661G>C c.(661-663)GAG>CAG p.E221Q GNB1L_uc002zqd.1_Intron|GNB1L_uc002zqe.1_Intron|GNB1L_uc002zqf.1_Intron|C22orf29_uc002zqh.2_Missense_Mutation_p.E221Q|C22orf29_uc002zqi.2_Missense_Mutation_p.E221Q|C22orf29_uc010grt.1_Intron NM_024627 NP_078903 Q7L3V2 CV029_HUMAN hypothetical protein LOC79680 221 0 Colorectal(54;0.0993) GCCAGGCCCTCTAAGAACCTA 0.602 27 64 --- --- --- --- PASS RFPL3 10738 broad.mit.edu 37 22 32756325 32756325 + Nonsense_Mutation SNP C T T TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr22:32756325C>T uc003amj.2 + 2 665 c.460C>T c.(460-462)CAG>TAG p.Q154* RFPL3_uc010gwn.2_Nonsense_Mutation_p.Q125*|RFPL3S_uc003amk.2_RNA|RFPL3S_uc003aml.2_RNA NM_001098535 NP_001092005 O75679 RFPL3_HUMAN ret finger protein-like 3 isoform 1 154 B30.2/SPRY. zinc ion binding ovary(1) 1 GCTCATCACACAGAATCGGCA 0.557 45 121 --- --- --- --- PASS RASD2 23551 broad.mit.edu 37 22 35942983 35942983 + Missense_Mutation SNP C T T TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr22:35942983C>T uc003anx.2 + 2 332 c.127C>T c.(127-129)CGC>TGC p.R43C RASD2_uc003any.2_Missense_Mutation_p.R43C NM_014310 NP_055125 Q96D21 RHES_HUMAN RASD family, member 2 precursor 43 locomotory behavior|positive regulation of protein kinase B signaling cascade|positive regulation of protein sumoylation|regulation of cAMP-mediated signaling intracellular|plasma membrane G-protein beta-subunit binding|GTP binding|GTPase activity lung(2)|skin(1) 3 CCTCAATGGCCGCTTTGAGGA 0.582 5 21 --- --- --- --- PASS ZC3H7B 23264 broad.mit.edu 37 22 41745268 41745268 + Silent SNP C T T TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr22:41745268C>T uc003azw.2 + 16 2127 c.1911C>T c.(1909-1911)TTC>TTT p.F637F ZC3H7B_uc010gyl.1_Intron NM_017590 NP_060060 Q9UGR2 Z3H7B_HUMAN zinc finger CCCH-type containing 7B 653 C3H1-type 2. interspecies interaction between organisms nucleus nucleic acid binding|protein binding|zinc ion binding central_nervous_system(1) 1 CCCACAGCTTCATCGAGCTCA 0.652 18 39 --- --- --- --- PASS DHRSX 207063 broad.mit.edu 37 X 2184904 2184904 + Missense_Mutation SNP A G G TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chrX:2184904A>G uc004cqf.3 - 5 522 c.473T>C c.(472-474)CTG>CCG p.L158P NM_145177 NP_660160 Q8N5I4 DHRSX_HUMAN dehydrogenase/reductase (SDR family) X-linked 158 binding|oxidoreductase activity 0 all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186) AAGGTTGGTCAGCAGGAAGTG 0.547 96 194 --- --- --- --- PASS PNPLA4 8228 broad.mit.edu 37 X 7880069 7880069 + Missense_Mutation SNP C A A TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chrX:7880069C>A uc011mhq.1 - 5 639 c.477G>T c.(475-477)CAG>CAT p.Q159H PNPLA4_uc011mhr.1_Missense_Mutation_p.Q159H|PNPLA4_uc011mhs.1_Missense_Mutation_p.Q72H NM_004650 NP_004641 P41247 PLPL4_HUMAN patatin-like phospholipase domain containing 4 159 Patatin. lipid catabolic process triglyceride lipase activity 0 Colorectal(8;0.0329)|Medulloblastoma(8;0.232) ACAAGCTTACCTGCCCTTTGT 0.368 44 33 --- --- --- --- PASS GRPR 2925 broad.mit.edu 37 X 16170751 16170751 + Missense_Mutation SNP C A A TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chrX:16170751C>A uc004cxj.2 + 3 1791 c.1138C>A c.(1138-1140)CAC>AAC p.H380N NM_005314 NP_005305 P30550 GRPR_HUMAN gastrin-releasing peptide receptor 380 Cytoplasmic (Potential). cell proliferation integral to plasma membrane bombesin receptor activity ovary(3)|lung(1) 4 Hepatocellular(33;0.183) AAACATCTGTCACGAGCGGTA 0.522 118 75 --- --- --- --- PASS CNKSR2 22866 broad.mit.edu 37 X 21627282 21627282 + Missense_Mutation SNP C A A TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chrX:21627282C>A uc004czx.1 + 20 2275 c.2239C>A c.(2239-2241)CAG>AAG p.Q747K CNKSR2_uc004czw.2_Missense_Mutation_p.Q747K|CNKSR2_uc011mjn.1_Missense_Mutation_p.Q698K|CNKSR2_uc011mjo.1_Missense_Mutation_p.Q717K|CNKSR2_uc004czy.2_Missense_Mutation_p.Q339K NM_014927 NP_055742 Q8WXI2 CNKR2_HUMAN connector enhancer of kinase suppressor of Ras 747 regulation of signal transduction cytoplasm|membrane protein binding large_intestine(1)|lung(1) 2 GGAGTTTCGCCAGGAAGTAAC 0.522 61 30 --- --- --- --- PASS KLHL34 257240 broad.mit.edu 37 X 21675230 21675230 + Missense_Mutation SNP C A A TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chrX:21675230C>A uc004czz.1 - 1 1219 c.677G>T c.(676-678)GGC>GTC p.G226V NM_153270 NP_695002 Q8N239 KLH34_HUMAN kelch-like 34 226 BACK. ovary(1) 1 GGGAACCAGGCCAAAGCGGAC 0.667 7 6 --- --- --- --- PASS DMD 1756 broad.mit.edu 37 X 31676156 31676156 + Missense_Mutation SNP G A A TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chrX:31676156G>A uc004dda.1 - 54 8222 c.7978C>T c.(7978-7980)CAC>TAC p.H2660Y DMD_uc004dcr.1_Missense_Mutation_p.H200Y|DMD_uc004dcs.1_Missense_Mutation_p.H200Y|DMD_uc004dct.1_Missense_Mutation_p.H200Y|DMD_uc004dcu.1_Missense_Mutation_p.H200Y|DMD_uc004dcv.1_Missense_Mutation_p.H200Y|DMD_uc004dcw.2_Missense_Mutation_p.H1316Y|DMD_uc004dcx.2_Missense_Mutation_p.H1319Y|DMD_uc004dcz.2_Missense_Mutation_p.H2537Y|DMD_uc004dcy.1_Missense_Mutation_p.H2656Y|DMD_uc004ddb.1_Missense_Mutation_p.H2652Y NM_004006 NP_003997 P11532 DMD_HUMAN dystrophin Dp427m isoform 2660 Spectrin 18. muscle filament sliding|peptide biosynthetic process cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding ovary(3)|pancreas(2)|large_intestine(1) 6 all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203) GTTATCATGTGGACTTTTCTG 0.418 35 89 --- --- --- --- PASS XK 7504 broad.mit.edu 37 X 37545361 37545361 + Silent SNP G T T TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chrX:37545361G>T uc004ddq.2 + 1 229 c.147G>T c.(145-147)GCG>GCT p.A49A NM_021083 NP_066569 P51811 XK_HUMAN membrane transport protein XK 49 Helical; (Potential). amino acid transport integral to membrane protein binding|transporter activity 0 all_lung(315;0.175) TGCCTTGCGCGCTCGTGCAGC 0.662 8 9 --- --- --- --- PASS PORCN 64840 broad.mit.edu 37 X 48369716 48369716 + Missense_Mutation SNP T A A TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chrX:48369716T>A uc010nie.1 + 3 328 c.170T>A c.(169-171)GTG>GAG p.V57E PORCN_uc004djq.1_Missense_Mutation_p.V170E|PORCN_uc004djr.1_Missense_Mutation_p.V57E|PORCN_uc004djs.1_Missense_Mutation_p.V57E|PORCN_uc004djt.1_Intron|PORCN_uc011mlx.1_Intron|PORCN_uc004dju.1_Intron|PORCN_uc004djv.1_Missense_Mutation_p.V57E|PORCN_uc004djw.1_Missense_Mutation_p.V57E NM_203475 NP_982301 Q9H237 PORCN_HUMAN porcupine isoform D 57 Extracellular (Potential).|Leu-rich. Wnt receptor signaling pathway endoplasmic reticulum membrane|integral to membrane acyltransferase activity ovary(2)|central_nervous_system(1) 3 GCAAGCACCGTGGCAGGCGGG 0.413 OREG0019764 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 81 23 --- --- --- --- PASS HUWE1 10075 broad.mit.edu 37 X 53641579 53641579 + Missense_Mutation SNP G C C TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chrX:53641579G>C uc004dsp.2 - 23 2579 c.2177C>G c.(2176-2178)TCT>TGT p.S726C NM_031407 NP_113584 Q7Z6Z7 HUWE1_HUMAN HECT, UBA and WWE domain containing 1 726 base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus DNA binding|protein binding|ubiquitin-protein ligase activity ovary(8)|large_intestine(4)|breast(4)|kidney(1) 17 ATCCTCACTAGAGGCTTCTTC 0.488 3 127 --- --- --- --- PASS FAM123B 139285 broad.mit.edu 37 X 63410979 63410979 + Missense_Mutation SNP G A A TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chrX:63410979G>A uc004dvo.2 - 2 2461 c.2188C>T c.(2188-2190)CCA>TCA p.P730S NM_152424 NP_689637 Q5JTC6 F123B_HUMAN family with sequence similarity 123B 730 Wnt receptor signaling pathway cytoplasm|nucleus|plasma membrane p.0?(40) kidney(99)|large_intestine(6)|ovary(3)|lung(2)|breast(1)|liver(1) 112 TGCATGTCTGGCTCAAACATG 0.507 3 61 --- --- --- --- PASS RGAG4 340526 broad.mit.edu 37 X 71349717 71349717 + Silent SNP C A A TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chrX:71349717C>A uc010nlh.1 - 1 2035 c.1674G>T c.(1672-1674)GGG>GGT p.G558G NHSL2_uc011mqa.1_Intron|RGAG4_uc004eaj.1_RNA NM_001024455 NP_001019626 Q5HYW3 RGAG4_HUMAN retrotransposon gag domain containing 4 558 ovary(2)|skin(1) 3 Renal(35;0.156) CTCGGTGGCCCCCCTGTCTCG 0.612 16 12 --- --- --- --- PASS FAM46D 169966 broad.mit.edu 37 X 79698639 79698639 + Missense_Mutation SNP G C C TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chrX:79698639G>C uc004edl.1 + 5 935 c.601G>C c.(601-603)GTT>CTT p.V201L FAM46D_uc004edm.1_Missense_Mutation_p.V201L NM_152630 NP_689843 Q8NEK8 FA46D_HUMAN hypothetical protein LOC169966 201 lung(2) 2 ATCCTATCCTGTTGTGGTAGC 0.403 62 31 --- --- --- --- PASS NRK 203447 broad.mit.edu 37 X 105166013 105166013 + Missense_Mutation SNP C G G TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chrX:105166013C>G uc004emd.2 + 17 2873 c.2570C>G c.(2569-2571)CCT>CGT p.P857R NRK_uc010npc.1_Missense_Mutation_p.P525R NM_198465 NP_940867 Q7Z2Y5 NRK_HUMAN Nik related kinase 857 ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity breast(7)|ovary(3)|lung(2)|large_intestine(1)|central_nervous_system(1) 14 TCATCACCACCTTATTCTACT 0.348 HNSCC(51;0.14) 12 4 --- --- --- --- PASS TEX13B 56156 broad.mit.edu 37 X 107225025 107225025 + Silent SNP C T T TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chrX:107225025C>T uc004enn.1 - 2 426 c.333G>A c.(331-333)CTG>CTA p.L111L NM_031273 NP_112563 Q9BXU2 TX13B_HUMAN testis expressed 13B 111 ovary(1) 1 TGAGTTCCGTCAGGTTTGAGG 0.577 113 66 --- --- --- --- PASS GRIA3 2892 broad.mit.edu 37 X 122532510 122532510 + Missense_Mutation SNP C A A TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chrX:122532510C>A uc004etq.3 + 8 1229 c.936C>A c.(934-936)GAC>GAA p.D312E GRIA3_uc004etr.3_Missense_Mutation_p.D312E|GRIA3_uc004ets.3_RNA|GRIA3_uc011muf.1_Missense_Mutation_p.D296E NM_007325 NP_015564 P42263 GRIA3_HUMAN glutamate receptor, ionotrophic, AMPA 3 isoform 312 Extracellular (Potential). glutamate signaling pathway|synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity ovary(3)|central_nervous_system(1)|pancreas(1) 5 L-Glutamic Acid(DB00142) TGACACACGACGCAATACTGG 0.428 23 20 --- --- --- --- PASS GRIA3 2892 broad.mit.edu 37 X 122537300 122537300 + Missense_Mutation SNP T A A TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chrX:122537300T>A uc004etq.3 + 10 1516 c.1223T>A c.(1222-1224)TTC>TAC p.F408Y GRIA3_uc004etr.3_Missense_Mutation_p.F408Y|GRIA3_uc004ets.3_RNA|GRIA3_uc011muf.1_Missense_Mutation_p.F392Y NM_007325 NP_015564 P42263 GRIA3_HUMAN glutamate receptor, ionotrophic, AMPA 3 isoform 408 Extracellular (Potential). glutamate signaling pathway|synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity ovary(3)|central_nervous_system(1)|pancreas(1) 5 L-Glutamic Acid(DB00142) TTTGTGCCTTTCTCAGATCAG 0.433 143 69 --- --- --- --- PASS GRIA3 2892 broad.mit.edu 37 X 122561815 122561815 + Missense_Mutation SNP G C C TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chrX:122561815G>C uc004etq.3 + 13 2194 c.1901G>C c.(1900-1902)GGA>GCA p.G634A GRIA3_uc004etr.3_Missense_Mutation_p.G634A|GRIA3_uc004ets.3_RNA NM_007325 NP_015564 P42263 GRIA3_HUMAN glutamate receptor, ionotrophic, AMPA 3 isoform 634 Cytoplasmic (Potential). glutamate signaling pathway|synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity ovary(3)|central_nervous_system(1)|pancreas(1) 5 L-Glutamic Acid(DB00142) CGCATTGTTGGAGGGGTTTGG 0.433 128 93 --- --- --- --- PASS ENOX2 10495 broad.mit.edu 37 X 129813618 129813618 + Nonsense_Mutation SNP C A A TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chrX:129813618C>A uc004evw.2 - 7 863 c.445G>T c.(445-447)GAG>TAG p.E149* ENOX2_uc004evx.2_Nonsense_Mutation_p.E120*|ENOX2_uc004evy.2_Nonsense_Mutation_p.E120*|ENOX2_uc004evv.2_5'UTR NM_182314 NP_872114 Q16206 ENOX2_HUMAN ecto-NOX disulfide-thiol exchanger 2 isoform b 149 RRM. 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 CCACACTGCTCGAAAACTTCC 0.493 146 63 --- --- --- --- PASS SOX3 6658 broad.mit.edu 37 X 139587162 139587162 + Silent SNP G T T TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chrX:139587162G>T uc004fbd.1 - 1 64 c.64C>A c.(64-66)CGG>AGG p.R22R NM_005634 NP_005625 P41225 SOX3_HUMAN SRY (sex determining region Y)-box 3 22 face development|hypothalamus development|negative regulation of neuron differentiation|pituitary gland development|regulation of transcription, DNA-dependent|sensory organ development|sex determination|transcription, DNA-dependent nucleus DNA binding pancreas(1) 1 Acute lymphoblastic leukemia(192;7.65e-05) AAAATGCTCCGCGCCAAATCA 0.627 10 5 --- --- --- --- PASS MIR892A 100126342 broad.mit.edu 37 X 145078222 145078222 + RNA SNP G T T TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chrX:145078222G>T hsa-mir-892a|MI0005528 - c.40G>T MIR890_hsa-mir-890|MI0005533_5'Flank|MIR888_hsa-mir-888|MI0005537_5'Flank 0 ACAGTGACATGTAGTGTAAGT 0.517 93 56 --- --- --- --- PASS PDZD4 57595 broad.mit.edu 37 X 153072196 153072196 + Splice_Site SNP C A A TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chrX:153072196C>A uc004fiz.1 - 4 736 c.486_splice c.e4+1 p.E162_splice PDZD4_uc004fiy.1_Splice_Site_p.E87_splice|PDZD4_uc004fix.2_Splice_Site_p.E66_splice|PDZD4_uc004fja.1_Splice_Site_p.E168_splice|PDZD4_uc011mze.1_Splice_Site_p.E53_splice NM_032512 NP_115901 Q76G19 PDZD4_HUMAN PDZ domain containing 4 cell cortex breast(1) 1 all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05) CGTCTGCATACCTCTCCGACA 0.607 23 10 --- --- --- --- PASS TSPY2 64591 broad.mit.edu 37 Y 6114379 6114379 + Silent SNP C A A TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chrY:6114379C>A uc004fqr.1 + 1 116 c.70C>A c.(70-72)CGG>AGG p.R24R TTTY23_uc004fqq.1_5'Flank|TSPY2_uc004fqs.1_Silent_p.R24R NM_022573 NP_072095 A6NKD2 TSPY2_HUMAN testis specific protein, Y-linked 2 24 cell differentiation|gonadal mesoderm development|nucleosome assembly|spermatogenesis cytoplasm|nucleus 0 TGGCGTGGGTCGGGCAGCACA 0.711 14 4 --- --- --- --- PASS NLGN4Y 22829 broad.mit.edu 37 Y 16953005 16953005 + Missense_Mutation SNP C T T TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chrY:16953005C>T uc004ftg.2 + 6 2566 c.2314C>T c.(2314-2316)CCA>TCA p.P772S NLGN4Y_uc004fte.2_Missense_Mutation_p.P604S|NLGN4Y_uc011nas.1_Missense_Mutation_p.P792S|NLGN4Y_uc004ftf.2_Missense_Mutation_p.P465S|NLGN4Y_uc004fth.2_Missense_Mutation_p.P772S NM_014893 NP_055708 Q8NFZ3 NLGNY_HUMAN neuroligin 4, Y-linked isoform 1 772 Cytoplasmic (Potential). brainstem development|cell adhesion|cerebellum development|male courtship behavior|positive regulation of organ growth|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior cell surface|integral to plasma membrane|synapse neurexin binding|receptor activity 0 GGATGACATCCCATTTATGAC 0.532 20 52 --- --- --- --- PASS RPS4Y2 140032 broad.mit.edu 37 Y 22930792 22930792 + Missense_Mutation SNP C G G TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chrY:22930792C>G uc011nbb.1 + 5 558 c.462C>G c.(460-462)ATC>ATG p.I154M NM_001039567 NP_001034656 Q8TD47 RS4Y2_HUMAN ribosomal protein S4, Y-linked 2 154 translation ribosome rRNA binding|structural constituent of ribosome 0 ATCCTCTCATCAAGGTGAACG 0.398 73 37 --- --- --- --- PASS SOX11 6664 broad.mit.edu 37 2 5833916 5833916 + Frame_Shift_Del DEL G - - TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr2:5833916delG uc002qyj.2 + 1 1118 c.1063delG c.(1063-1065)GGCfs p.G355fs NM_003108 NP_003099 P35716 SOX11_HUMAN SRY-box 11 355 cardiac ventricle formation|closure of optic fissure|cornea development in camera-type eye|embryonic digestive tract morphogenesis|embryonic skeletal system morphogenesis|eyelid development in camera-type eye|glial cell proliferation|hard palate development|lens morphogenesis in camera-type eye|limb bud formation|lung morphogenesis|negative regulation of cell death|negative regulation of glial cell proliferation|negative regulation of lymphocyte proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|neural crest cell development|neural tube formation|neuroepithelial cell differentiation|noradrenergic neuron differentiation|outflow tract morphogenesis|positive regulation of BMP signaling pathway|positive regulation of hippo signaling cascade|positive regulation of hormone secretion|positive regulation of neurogenesis|positive regulation of neuron differentiation|positive regulation of ossification|positive regulation of osteoblast differentiation|positive regulation of stem cell proliferation|regulation of transforming growth factor beta receptor signaling pathway|signal transduction involved in G1/S transition checkpoint|soft palate development|somite development|spinal cord development|sympathetic nervous system development|ventricular septum morphogenesis cytoplasm|nucleolus enhancer sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|RNA polymerase II transcription coactivator activity|translation factor activity, nucleic acid binding central_nervous_system(3) 3 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191) OV - Ovarian serous cystadenocarcinoma(76;0.132) cggcagcagcggcGAGGACGC 0.502 11 6 --- --- --- --- USP19 10869 broad.mit.edu 37 3 49152898 49152898 + Frame_Shift_Del DEL C - - TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr3:49152898delC uc003cwd.1 - 11 1719 c.1558delG c.(1558-1560)GAAfs p.E520fs USP19_uc003cwa.2_Frame_Shift_Del_p.E328fs|USP19_uc003cvz.3_Frame_Shift_Del_p.E623fs|USP19_uc011bcg.1_Frame_Shift_Del_p.E611fs|USP19_uc003cwb.2_Frame_Shift_Del_p.E606fs|USP19_uc003cwc.1_Frame_Shift_Del_p.E278fs|USP19_uc011bch.1_Frame_Shift_Del_p.E621fs|USP19_uc011bci.1_Frame_Shift_Del_p.E608fs NM_006677 NP_006668 O94966 UBP19_HUMAN ubiquitin thioesterase 19 520 Cytoplasmic (Potential). ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy endoplasmic reticulum membrane|integral to membrane ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding ovary(4)|breast(2)|lung(1) 7 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) TCCCGGAGTTCCCGAGTGTTG 0.507 40 21 --- --- --- --- GPR126 57211 broad.mit.edu 37 6 142758629 142758631 + In_Frame_Del DEL GCA - - rs1262686 by1000genomes TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr6:142758629_142758631delGCA uc010khc.2 + 23 3789_3791 c.3378_3380delGCA c.(3376-3381)CGGCGG>CGG p.1126_1127RR>R GPR126_uc010khd.2_In_Frame_Del_p.1098_1099RR>R|GPR126_uc010khe.2_In_Frame_Del_p.1126_1127RR>R|GPR126_uc010khf.2_In_Frame_Del_p.1098_1099RR>R|GPR126_uc011edv.1_In_Frame_Del_p.Q187del NM_020455 NP_065188 Q86SQ4 GP126_HUMAN G protein-coupled receptor 126 alpha 1 1126_1127 Cytoplasmic (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity ovary(1) 1 Breast(32;0.176) OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121) AACAGTGGCGGCAGCATCTCTGC 0.365 119 60 --- --- --- --- FKBP15 23307 broad.mit.edu 37 9 115931591 115931591 + Frame_Shift_Del DEL C - - TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr9:115931591delC uc004bgs.2 - 26 3516 c.3398delG c.(3397-3399)GGTfs p.G1133fs FKBP15_uc004bgr.2_Frame_Shift_Del_p.G570fs|FKBP15_uc011lxc.1_Frame_Shift_Del_p.G714fs|FKBP15_uc011lxd.1_Frame_Shift_Del_p.G1065fs NM_015258 NP_056073 Q5T1M5 FKB15_HUMAN FK506 binding protein 15, 133kDa 1133 endocytosis|protein folding axon|early endosome actin binding ovary(3) 3 CTTGTGGGGACCGGTGGAGCT 0.597 86 38 --- --- --- --- PPHLN1 51535 broad.mit.edu 37 12 42836533 42836534 + Frame_Shift_Ins INS - A A rs143861840 TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chr12:42836533_42836534insA uc001rng.1 + 11 1220_1221 c.1115_1116insA c.(1114-1116)ACTfs p.T372fs PPHLN1_uc010skr.1_Frame_Shift_Ins_p.T317fs|PPHLN1_uc010sks.1_Frame_Shift_Ins_p.T298fs|PPHLN1_uc010skt.1_Frame_Shift_Ins_p.T252fs|PPHLN1_uc001rni.1_Frame_Shift_Ins_p.T317fs|PPHLN1_uc001rnh.1_RNA|PPHLN1_uc010sku.1_Intron NM_016488 NP_057572 Q8NEY8 PPHLN_HUMAN periphilin 1 isoform 1 372 keratinization cytoplasm|nucleus ovary(1)|breast(1) 2 all_cancers(12;0.00049)|Breast(8;0.165) Lung NSC(34;0.123) GBM - Glioblastoma multiforme(48;0.0875) ggcgaagagactgcgcagtcag 0.010 145 89 --- --- --- --- USP9X 8239 broad.mit.edu 37 X 41075504 41075505 + Frame_Shift_Ins INS - T T TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chrX:41075504_41075505insT uc004dfb.2 + 35 6317_6318 c.5684_5685insT c.(5683-5685)AATfs p.N1895fs USP9X_uc004dfc.2_Frame_Shift_Ins_p.N1895fs NM_001039590 NP_001034679 Q93008 USP9X_HUMAN ubiquitin specific protease 9, X-linked isoform 1895 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 GGTGAGAGAAATCGCTGGTATA 0.416 42 68 --- --- --- --- PCDH11Y 83259 broad.mit.edu 37 Y 4924798 4924803 + Translation_Start_Site DEL ACAGAG - - TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx fecd0a2b-d176-438a-be95-306f453fde40 10b56aa0-ab28-49ef-9902-031c1694ada1 g.chrY:4924798_4924803delACAGAG uc004fqo.2 + 1 668_673 c.-66_-61delACAGAG c.(-68--59)TAACAGAGTG>TATG PCDH11Y_uc010nwg.1_Intron|PCDH11Y_uc004fql.1_Intron|PCDH11Y_uc004fqm.1_Intron|PCDH11Y_uc004fqn.1_Translation_Start_Site NM_032973 NP_116755 Q9BZA8 PC11Y_HUMAN protocadherin 11 Y-linked isoform c homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 TCACTAATTAACAGAGTGTCAATTAT 0.267 18 25 --- --- --- ---