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 RAP1GAP 5909 broad.mit.edu 37 1 21934781 21934781 + Silent SNP G T T TCGA-46-6026-01A-11D-1817-08 TCGA-46-6026-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 42a4a60c-257e-4bf6-a9ba-6f162dbca94a ca8e5a2b-459e-46c9-9818-cc8a71465b1f g.chr1:21934781G>T uc001bex.2 - 17 1479 c.1221C>A c.(1219-1221)TCC>TCA p.S407S RAP1GAP_uc001bev.2_Silent_p.S407S|RAP1GAP_uc001bew.2_Silent_p.S471S|RAP1GAP_uc001bey.2_Silent_p.S407S NM_002885 NP_002876 P47736 RPGP1_HUMAN RAP1 GTPase activating protein isoform c 407 regulation of Ras GTPase activity|signal transduction cytosol|Golgi membrane|membrane fraction GTPase activator activity|GTPase activity|protein homodimerization activity|Ras GTPase binding breast(2)|ovary(1) 3 Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000861)|all_lung(284;0.000901)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427) UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;2.3e-26)|COAD - Colon adenocarcinoma(152;1.59e-05)|GBM - Glioblastoma multiforme(114;2.7e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000354)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00862)|READ - Rectum adenocarcinoma(331;0.0625)|Lung(427;0.146) AGCCCATCATGGACTGGCTGT 0.647 20 57 --- --- --- --- PASS WDTC1 23038 broad.mit.edu 37 1 27608757 27608757 + Nonsense_Mutation SNP G T T TCGA-46-6026-01A-11D-1817-08 TCGA-46-6026-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 42a4a60c-257e-4bf6-a9ba-6f162dbca94a ca8e5a2b-459e-46c9-9818-cc8a71465b1f g.chr1:27608757G>T uc009vst.2 + 4 695 c.160G>T c.(160-162)GAG>TAG p.E54* WDTC1_uc001bno.2_Nonsense_Mutation_p.E54*|WDTC1_uc001bnp.1_RNA NM_015023 NP_055838 Q8N5D0 WDTC1_HUMAN WD and tetratricopeptide repeats 1 54 WD 1. protein binding ovary(1)|central_nervous_system(1) 2 all_cancers(24;3.12e-19)|all_epithelial(13;4.18e-18)|Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.00257)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966) UCEC - Uterine corpus endometrioid carcinoma (279;0.0443)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;1.02e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00201)|STAD - Stomach adenocarcinoma(196;0.00321)|READ - Rectum adenocarcinoma(331;0.0476) CAACTGTCTGGAGTGGAATGA 0.522 35 27 --- --- --- --- PASS EPB41 2035 broad.mit.edu 37 1 29362386 29362386 + Missense_Mutation SNP G T T TCGA-46-6026-01A-11D-1817-08 TCGA-46-6026-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 42a4a60c-257e-4bf6-a9ba-6f162dbca94a ca8e5a2b-459e-46c9-9818-cc8a71465b1f g.chr1:29362386G>T uc001brm.1 + 9 1421 c.1414G>T c.(1414-1416)GCA>TCA p.A472S EPB41_uc001brg.1_Missense_Mutation_p.A263S|EPB41_uc001brh.1_Missense_Mutation_p.A263S|EPB41_uc001bri.1_Missense_Mutation_p.A437S|EPB41_uc001brj.1_Missense_Mutation_p.A263S|EPB41_uc009vtk.1_Missense_Mutation_p.A437S|EPB41_uc001brk.2_Missense_Mutation_p.A472S|EPB41_uc001brl.1_Missense_Mutation_p.A472S|EPB41_uc009vtl.1_Missense_Mutation_p.A263S|EPB41_uc009vtm.1_Missense_Mutation_p.A105S NM_203342 NP_976217 P11171 41_HUMAN erythrocyte membrane protein band 4.1 472 FERM. blood circulation|cortical actin cytoskeleton organization|positive regulation of protein binding extrinsic to membrane|Golgi apparatus|nucleus|plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton 1-phosphatidylinositol binding|actin binding|spectrin binding|structural constituent of cytoskeleton ovary(1) 1 Colorectal(325;3.46e-05)|Prostate(1639;0.000244)|Lung NSC(340;0.00328)|all_lung(284;0.00412)|Breast(348;0.00765)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123) Colorectal(126;3.12e-07)|COAD - Colon adenocarcinoma(152;1.21e-05)|STAD - Stomach adenocarcinoma(196;0.00395)|KIRC - Kidney renal clear cell carcinoma(1967;0.0249)|BRCA - Breast invasive adenocarcinoma(304;0.0289)|READ - Rectum adenocarcinoma(331;0.0757) CAGTTACCGAGCAGCTAAGAA 0.333 16 40 --- --- --- --- PASS KLF17 128209 broad.mit.edu 37 1 44595677 44595677 + Missense_Mutation SNP C A A TCGA-46-6026-01A-11D-1817-08 TCGA-46-6026-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 42a4a60c-257e-4bf6-a9ba-6f162dbca94a ca8e5a2b-459e-46c9-9818-cc8a71465b1f g.chr1:44595677C>A uc001clp.2 + 2 792 c.734C>A c.(733-735)TCT>TAT p.S245Y KLF17_uc009vxf.1_Missense_Mutation_p.S208Y NM_173484 NP_775755 Q5JT82 KLF17_HUMAN zinc finger protein 393 245 regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding ovary(1)|skin(1) 2 Acute lymphoblastic leukemia(166;0.155) CAGCCAGACTCTCAAGAAGGC 0.567 18 46 --- --- --- --- PASS FAM159A 348378 broad.mit.edu 37 1 53108671 53108671 + Missense_Mutation SNP G A A TCGA-46-6026-01A-11D-1817-08 TCGA-46-6026-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 42a4a60c-257e-4bf6-a9ba-6f162dbca94a ca8e5a2b-459e-46c9-9818-cc8a71465b1f g.chr1:53108671G>A uc001cuf.2 + 2 419 c.319G>A c.(319-321)GCA>ACA p.A107T FAM159A_uc001cug.1_RNA|FAM159A_uc001cuh.2_RNA NM_001042693 NP_001036158 Q6UWV7 F159A_HUMAN hypothetical protein LOC348378 107 integral to membrane 0 CTTACAGACAGCAGGTAAGGA 0.483 52 36 --- --- --- --- PASS LRRC7 57554 broad.mit.edu 37 1 70486789 70486789 + Missense_Mutation SNP G A A TCGA-46-6026-01A-11D-1817-08 TCGA-46-6026-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 42a4a60c-257e-4bf6-a9ba-6f162dbca94a ca8e5a2b-459e-46c9-9818-cc8a71465b1f g.chr1:70486789G>A uc001dep.2 + 14 1438 c.1408G>A c.(1408-1410)GAC>AAC p.D470N LRRC7_uc009wbg.2_Missense_Mutation_p.M1I NM_020794 NP_065845 Q96NW7 LRRC7_HUMAN leucine rich repeat containing 7 470 centrosome|focal adhesion|nucleolus protein binding ovary(9)|breast(2)|central_nervous_system(2)|liver(1) 14 AAAAGAAGATGACGAAAATGC 0.378 23 21 --- --- --- --- PASS CGN 57530 broad.mit.edu 37 1 151491775 151491775 + Silent SNP C A A TCGA-46-6026-01A-11D-1817-08 TCGA-46-6026-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 42a4a60c-257e-4bf6-a9ba-6f162dbca94a ca8e5a2b-459e-46c9-9818-cc8a71465b1f g.chr1:151491775C>A uc009wmw.2 + 2 924 c.780C>A c.(778-780)CTC>CTA p.L260L NM_020770 NP_065821 Q9P2M7 CING_HUMAN cingulin 254 Interacts with ZO-2.|Head. myosin complex|tight junction actin binding|motor activity ovary(2)|pancreas(1) 3 Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) LUSC - Lung squamous cell carcinoma(543;0.181) TGAGTCCTCTCAGTGGCTTTA 0.582 17 50 --- --- --- --- PASS FLG 2312 broad.mit.edu 37 1 152285018 152285018 + Missense_Mutation SNP G A A TCGA-46-6026-01A-11D-1817-08 TCGA-46-6026-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 42a4a60c-257e-4bf6-a9ba-6f162dbca94a ca8e5a2b-459e-46c9-9818-cc8a71465b1f g.chr1:152285018G>A uc001ezu.1 - 3 2380 c.2344C>T c.(2344-2346)CGG>TGG p.R782W uc001ezv.2_5'Flank NM_002016 NP_002007 P20930 FILA_HUMAN filaggrin 782 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity ovary(9)|skin(4)|upper_aerodigestive_tract(3) 16 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TCCCCTGACCGGTCACGTGCG 0.567 Ichthyosis 128 250 --- --- --- --- PASS FLG2 388698 broad.mit.edu 37 1 152327320 152327320 + Nonsense_Mutation SNP G T T TCGA-46-6026-01A-11D-1817-08 TCGA-46-6026-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 42a4a60c-257e-4bf6-a9ba-6f162dbca94a ca8e5a2b-459e-46c9-9818-cc8a71465b1f g.chr1:152327320G>T uc001ezw.3 - 3 3015 c.2942C>A c.(2941-2943)TCA>TAA p.S981* uc001ezv.2_Intron NM_001014342 NP_001014364 Q5D862 FILA2_HUMAN filaggrin family member 2 981 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) GGATTTTCCTGAGCCTGACTC 0.493 178 107 --- --- --- --- PASS CCDC19 25790 broad.mit.edu 37 1 159846487 159846487 + Missense_Mutation SNP C T T TCGA-46-6026-01A-11D-1817-08 TCGA-46-6026-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 42a4a60c-257e-4bf6-a9ba-6f162dbca94a ca8e5a2b-459e-46c9-9818-cc8a71465b1f g.chr1:159846487C>T uc001fui.2 - 10 1229 c.1211G>A c.(1210-1212)AGA>AAA p.R404K CCDC19_uc009wtb.2_RNA|CCDC19_uc001fuj.2_RNA|CCDC19_uc001fuk.2_Missense_Mutation_p.R319K|CCDC19_uc001ful.2_Missense_Mutation_p.R319K|CCDC19_uc009wtc.1_Silent_p.Q403Q NM_012337 NP_036469 Q9UL16 CCD19_HUMAN nasopharyngeal epithelium specific protein 1 404 Potential. mitochondrion|soluble fraction ovary(1) 1 all_hematologic(112;0.0597) BRCA - Breast invasive adenocarcinoma(70;0.151) CTTTTCCTTTCTGCGCCACTC 0.552 10 36 --- --- --- --- PASS ATP1A2 477 broad.mit.edu 37 1 160098527 160098527 + Missense_Mutation SNP C T T TCGA-46-6026-01A-11D-1817-08 TCGA-46-6026-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 42a4a60c-257e-4bf6-a9ba-6f162dbca94a ca8e5a2b-459e-46c9-9818-cc8a71465b1f g.chr1:160098527C>T uc001fvc.2 + 9 1235 c.1103C>T c.(1102-1104)ACG>ATG p.T368M ATP1A2_uc001fvb.2_Missense_Mutation_p.T368M|ATP1A2_uc010piz.1_Missense_Mutation_p.T213M|ATP1A2_uc001fvd.2_Missense_Mutation_p.T104M|ATP1A2_uc009wtg.1_Missense_Mutation_p.T56M NM_000702 NP_000693 P50993 AT1A2_HUMAN Na+/K+ -ATPase alpha 2 subunit proprotein 368 Cytoplasmic (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) CTGGGCTCCACGTCCACCATC 0.607 18 76 --- --- --- --- PASS ADCY10 55811 broad.mit.edu 37 1 167871256 167871256 + Missense_Mutation SNP G A A TCGA-46-6026-01A-11D-1817-08 TCGA-46-6026-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 42a4a60c-257e-4bf6-a9ba-6f162dbca94a ca8e5a2b-459e-46c9-9818-cc8a71465b1f g.chr1:167871256G>A uc001ger.2 - 4 588 c.290C>T c.(289-291)GCA>GTA p.A97V ADCY10_uc009wvk.2_5'UTR|ADCY10_uc010plj.1_5'UTR|ADCY10_uc009wvl.2_Missense_Mutation_p.A96V|ADCY10_uc009wvm.2_RNA NM_018417 NP_060887 Q96PN6 ADCYA_HUMAN adenylate cyclase 10 97 Guanylate cyclase 1. intracellular signal transduction|spermatogenesis cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction adenylate cyclase activity|ATP binding|magnesium ion binding central_nervous_system(2)|ovary(1) 3 CCCCATACCTGCAAATTTCAG 0.403 5 281 --- --- --- --- PASS RASAL2 9462 broad.mit.edu 37 1 178427462 178427462 + Missense_Mutation SNP G A A TCGA-46-6026-01A-11D-1817-08 TCGA-46-6026-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 42a4a60c-257e-4bf6-a9ba-6f162dbca94a ca8e5a2b-459e-46c9-9818-cc8a71465b1f g.chr1:178427462G>A uc001glr.2 + 12 2737 c.2612G>A c.(2611-2613)CGA>CAA p.R871Q RASAL2_uc001glq.2_Missense_Mutation_p.R1012Q|RASAL2_uc009wxc.2_Missense_Mutation_p.R385Q NM_004841 NP_004832 Q9UJF2 NGAP_HUMAN RAS protein activator like 2 isoform 1 871 negative regulation of Ras protein signal transduction|signal transduction cytoplasm|intrinsic to internal side of plasma membrane Ras GTPase activator activity ovary(2)|breast(2)|large_intestine(1) 5 GCCCAGATCCGAAAAGTGGAC 0.572 11 46 --- --- --- --- PASS HMCN1 83872 broad.mit.edu 37 1 186024775 186024775 + Missense_Mutation SNP G T T TCGA-46-6026-01A-11D-1817-08 TCGA-46-6026-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 42a4a60c-257e-4bf6-a9ba-6f162dbca94a ca8e5a2b-459e-46c9-9818-cc8a71465b1f g.chr1:186024775G>T uc001grq.1 + 45 7342 c.7113G>T c.(7111-7113)ATG>ATT p.M2371I NM_031935 NP_114141 Q96RW7 HMCN1_HUMAN hemicentin 1 precursor 2371 Ig-like C2-type 21. response to stimulus|visual perception basement membrane calcium ion binding ovary(22)|skin(1) 23 TAGCAGGAATGACTGACAAAA 0.413 41 36 --- --- --- --- PASS PRG4 10216 broad.mit.edu 37 1 186276431 186276431 + Missense_Mutation SNP C G G TCGA-46-6026-01A-11D-1817-08 TCGA-46-6026-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 42a4a60c-257e-4bf6-a9ba-6f162dbca94a ca8e5a2b-459e-46c9-9818-cc8a71465b1f g.chr1:186276431C>G uc001gru.3 + 7 1631 c.1580C>G c.(1579-1581)ACC>AGC p.T527S PRG4_uc001grt.3_Missense_Mutation_p.T486S|PRG4_uc009wyl.2_Missense_Mutation_p.T434S|PRG4_uc009wym.2_Missense_Mutation_p.T393S|PRG4_uc010poo.1_Intron NM_005807 NP_005798 Q92954 PRG4_HUMAN proteoglycan 4 isoform A 527 59 X 8 AA repeats of K-X-P-X-P-T-T-X.|23. cell proliferation|immune response extracellular region polysaccharide binding|protein binding|scavenger receptor activity skin(1) 1 CCCACCACCACCAAGTCTGCA 0.637 27 18 --- --- --- --- PASS ASPM 259266 broad.mit.edu 37 1 197072366 197072366 + Missense_Mutation SNP C A A TCGA-46-6026-01A-11D-1817-08 TCGA-46-6026-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 42a4a60c-257e-4bf6-a9ba-6f162dbca94a ca8e5a2b-459e-46c9-9818-cc8a71465b1f g.chr1:197072366C>A uc001gtu.2 - 18 6272 c.6015G>T c.(6013-6015)AGG>AGT p.R2005S ASPM_uc001gtv.2_Intron|ASPM_uc001gtw.3_Intron NM_018136 NP_060606 Q8IZT6 ASPM_HUMAN asp (abnormal spindle)-like, microcephaly 2005 mitosis cytoplasm|nucleus calmodulin binding ovary(4)|central_nervous_system(2) 6 TACTGTAAGCCCTATAATACT 0.328 27 80 --- --- --- --- PASS NFASC 23114 broad.mit.edu 37 1 204957875 204957875 + Missense_Mutation SNP G A A TCGA-46-6026-01A-11D-1817-08 TCGA-46-6026-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 42a4a60c-257e-4bf6-a9ba-6f162dbca94a ca8e5a2b-459e-46c9-9818-cc8a71465b1f g.chr1:204957875G>A uc001hbj.2 + 23 3036 c.2708G>A c.(2707-2709)AGG>AAG p.R903K NFASC_uc010pra.1_Missense_Mutation_p.R1006K|NFASC_uc001hbi.2_Missense_Mutation_p.R1006K|NFASC_uc010prb.1_Missense_Mutation_p.R1021K|NFASC_uc010prc.1_Missense_Mutation_p.R577K|NFASC_uc001hbk.1_Missense_Mutation_p.R816K|NFASC_uc001hbl.1_Missense_Mutation_p.R153K|NFASC_uc001hbm.1_Missense_Mutation_p.R49K|NFASC_uc001hbn.1_Missense_Mutation_p.R49K NM_001005388 NP_001005388 O94856 NFASC_HUMAN neurofascin isoform 1 precursor Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment axon guidance|cell adhesion|myelination|peripheral nervous system development integral to membrane|node of Ranvier|plasma membrane protein binding ovary(3)|breast(1)|central_nervous_system(1)|skin(1) 6 all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158) CTCAGCGCCAGGACGCAGGTG 0.587 50 39 --- --- --- --- PASS EPRS 2058 broad.mit.edu 37 1 220213588 220213588 + Missense_Mutation SNP C A A TCGA-46-6026-01A-11D-1817-08 TCGA-46-6026-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 42a4a60c-257e-4bf6-a9ba-6f162dbca94a ca8e5a2b-459e-46c9-9818-cc8a71465b1f g.chr1:220213588C>A uc001hly.1 - 2 340 c.70G>T c.(70-72)GTG>TTG p.V24L EPRS_uc010puf.1_5'UTR|EPRS_uc001hlz.1_Missense_Mutation_p.V24L|EPRS_uc009xdt.1_5'UTR NM_004446 NP_004437 P07814 SYEP_HUMAN glutamyl-prolyl tRNA synthetase 24 glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly cytosol|soluble fraction ATP binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding|RNA binding ovary(1)|skin(1) 2 GBM - Glioblastoma multiforme(131;0.0735) L-Glutamic Acid(DB00142)|L-Proline(DB00172) TCGTCTTTCACGTGTTCTACT 0.323 36 96 --- --- --- --- PASS KIAA1804 84451 broad.mit.edu 37 1 233507832 233507832 + Missense_Mutation SNP G A A TCGA-46-6026-01A-11D-1817-08 TCGA-46-6026-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 42a4a60c-257e-4bf6-a9ba-6f162dbca94a ca8e5a2b-459e-46c9-9818-cc8a71465b1f g.chr1:233507832G>A uc001hvt.3 + 6 1862 c.1601G>A c.(1600-1602)CGG>CAG p.R534Q KIAA1804_uc001hvs.1_Missense_Mutation_p.R534Q NM_032435 NP_115811 Q5TCX8 M3KL4_HUMAN mixed lineage kinase 4 534 activation of JUN kinase activity|protein autophosphorylation ATP binding|MAP kinase kinase kinase activity|protein homodimerization activity lung(5)|central_nervous_system(2)|skin(1) 8 all_cancers(173;0.000405)|all_epithelial(177;0.0345)|Prostate(94;0.122) TTGGACAAACGGCGGAGCCTG 0.547 37 39 --- --- --- --- PASS IRF2BP2 359948 broad.mit.edu 37 1 234743230 234743230 + Missense_Mutation SNP C T T TCGA-46-6026-01A-11D-1817-08 TCGA-46-6026-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 42a4a60c-257e-4bf6-a9ba-6f162dbca94a ca8e5a2b-459e-46c9-9818-cc8a71465b1f g.chr1:234743230C>T uc001hwg.2 - 2 1448 c.1417G>A c.(1417-1419)GAG>AAG p.E473K IRF2BP2_uc009xfw.2_Missense_Mutation_p.E83K|IRF2BP2_uc001hwf.2_Missense_Mutation_p.E457K NM_182972 NP_892017 Q7Z5L9 I2BP2_HUMAN interferon regulatory factor 2 binding protein 2 473 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus 0 Ovarian(103;0.0303) all_cancers(173;0.0236)|Prostate(94;0.0115) OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)|Epithelial(3;6.2e-05) CCCCCCACCTCTCTGGGGCCC 0.622 34 87 --- --- --- --- PASS OR2G3 81469 broad.mit.edu 37 1 247769333 247769333 + Missense_Mutation SNP G T T TCGA-46-6026-01A-11D-1817-08 TCGA-46-6026-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 42a4a60c-257e-4bf6-a9ba-6f162dbca94a ca8e5a2b-459e-46c9-9818-cc8a71465b1f g.chr1:247769333G>T uc010pyz.1 + 1 446 c.446G>T c.(445-447)TGG>TTG p.W149L NM_001001914 NP_001001914 Q8NGZ4 OR2G3_HUMAN olfactory receptor, family 2, subfamily G, 149 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1) 1 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.017) TCTATCTCCTGGCTCAGTGGT 0.493 35 97 --- --- --- --- PASS OR2T34 127068 broad.mit.edu 37 1 248737725 248737725 + Silent SNP G A A TCGA-46-6026-01A-11D-1817-08 TCGA-46-6026-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 42a4a60c-257e-4bf6-a9ba-6f162dbca94a ca8e5a2b-459e-46c9-9818-cc8a71465b1f g.chr1:248737725G>A uc001iep.1 - 1 334 c.334C>T c.(334-336)CTG>TTG p.L112L NM_001001821 NP_001001821 Q8NGX1 O2T34_HUMAN olfactory receptor, family 2, subfamily T, 112 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(1)|ovary(1) 2 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) GCTCCAGCCAGGGTCAGGTGG 0.557 21 58 --- --- --- --- PASS SLC8A1 6546 broad.mit.edu 37 2 40657410 40657410 + Missense_Mutation SNP A G G TCGA-46-6026-01A-11D-1817-08 TCGA-46-6026-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 42a4a60c-257e-4bf6-a9ba-6f162dbca94a ca8e5a2b-459e-46c9-9818-cc8a71465b1f g.chr2:40657410A>G uc002rrx.2 - 1 35 c.11T>C c.(10-12)ATG>ACG p.M4T SLC8A1_uc002rry.2_Missense_Mutation_p.M4T|SLC8A1_uc002rrz.2_Missense_Mutation_p.M4T|SLC8A1_uc002rsa.2_Missense_Mutation_p.M4T|SLC8A1_uc002rsd.3_Missense_Mutation_p.M4T|SLC8A1_uc002rsb.1_Missense_Mutation_p.M4T|SLC8A1_uc010fan.1_Missense_Mutation_p.M4T|SLC8A1_uc002rsc.1_Missense_Mutation_p.M4T NM_021097 NP_066920 P32418 NAC1_HUMAN solute carrier family 8 (sodium/calcium 4 cell communication|muscle contraction|platelet activation integral to plasma membrane calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding ovary(1)|kidney(1)|central_nervous_system(1)|skin(1) 4 Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159) TAATCGCCGCATGTTGTACAT 0.423 8 41 --- --- --- --- PASS STON1-GTF2A1L 286749 broad.mit.edu 37 2 48848367 48848367 + Missense_Mutation SNP A G G TCGA-46-6026-01A-11D-1817-08 TCGA-46-6026-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 42a4a60c-257e-4bf6-a9ba-6f162dbca94a ca8e5a2b-459e-46c9-9818-cc8a71465b1f g.chr2:48848367A>G uc010yol.1 + 4 2344 c.2297A>G c.(2296-2298)CAA>CGA p.Q766R STON1-GTF2A1L_uc002rwp.1_Missense_Mutation_p.Q766R|GTF2A1L_uc002rws.1_Missense_Mutation_p.Q62R|GTF2A1L_uc010yom.1_Missense_Mutation_p.Q28R|GTF2A1L_uc002rwt.2_Missense_Mutation_p.Q62R NM_006873 NP_006864 B7ZL16 B7ZL16_HUMAN stonin 1 766 endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter clathrin adaptor complex|transcription factor TFIIA complex ovary(3)|pancreas(1)|skin(1) 5 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) AATAGCATCCAATCACCTCTG 0.383 38 23 --- --- --- --- PASS ANKRD53 79998 broad.mit.edu 37 2 71209097 71209097 + Missense_Mutation SNP C A A TCGA-46-6026-01A-11D-1817-08 TCGA-46-6026-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 42a4a60c-257e-4bf6-a9ba-6f162dbca94a ca8e5a2b-459e-46c9-9818-cc8a71465b1f g.chr2:71209097C>A uc002shl.3 + 4 850 c.649C>A c.(649-651)CTG>ATG p.L217M ANKRD53_uc002shk.3_Missense_Mutation_p.L217M|ANKRD53_uc002shm.3_Intron NM_001115116 NP_001108588 Q8N9V6 ANR53_HUMAN ankyrin repeat domain 53 isoform a 217 ANK 3. 0 GCCCCTGCACCTGGCAGCCCG 0.577 10 74 --- --- --- --- PASS CYP26B1 56603 broad.mit.edu 37 2 72359496 72359496 + Missense_Mutation SNP C A A TCGA-46-6026-01A-11D-1817-08 TCGA-46-6026-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 42a4a60c-257e-4bf6-a9ba-6f162dbca94a ca8e5a2b-459e-46c9-9818-cc8a71465b1f g.chr2:72359496C>A uc002sih.1 - 6 1399 c.1399G>T c.(1399-1401)GCC>TCC p.A467S CYP26B1_uc010yra.1_Missense_Mutation_p.A450S|CYP26B1_uc010yrb.1_Missense_Mutation_p.A392S NM_019885 NP_063938 Q9NR63 CP26B_HUMAN cytochrome P450, family 26, subfamily b, 467 cell fate determination|embryonic limb morphogenesis|male meiosis|negative regulation of retinoic acid receptor signaling pathway|proximal/distal pattern formation|retinoic acid catabolic process|spermatogenesis|xenobiotic metabolic process endoplasmic reticulum membrane|microsome electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding skin(2) 2 GTCCGTGTGGCCAGCTCAAAG 0.642 8 28 --- --- --- --- PASS POU3F3 5455 broad.mit.edu 37 2 105473369 105473369 + Silent SNP C A A TCGA-46-6026-01A-11D-1817-08 TCGA-46-6026-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 42a4a60c-257e-4bf6-a9ba-6f162dbca94a ca8e5a2b-459e-46c9-9818-cc8a71465b1f g.chr2:105473369C>A uc010ywg.1 + 1 1401 c.1401C>A c.(1399-1401)CCC>CCA p.P467P NM_006236 NP_006227 P20264 PO3F3_HUMAN POU class 3 homeobox 3 467 metanephric ascending thin limb development|metanephric DCT cell differentiation|metanephric macula densa development|metanephric thick ascending limb development|negative regulation of apoptosis|positive regulation of cell proliferation nucleus sequence-specific DNA binding ovary(1) 1 TGACGCCGCCCGGGATCCAAC 0.662 38 15 --- --- --- --- PASS CCDC93 54520 broad.mit.edu 37 2 118764334 118764334 + Missense_Mutation SNP A G G TCGA-46-6026-01A-11D-1817-08 TCGA-46-6026-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 42a4a60c-257e-4bf6-a9ba-6f162dbca94a ca8e5a2b-459e-46c9-9818-cc8a71465b1f g.chr2:118764334A>G uc002tlj.2 - 3 341 c.215T>C c.(214-216)TTG>TCG p.L72S CCDC93_uc010fld.1_Missense_Mutation_p.L72S NM_019044 NP_061917 Q567U6 CCD93_HUMAN coiled-coil domain containing 93 72 large_intestine(1)|ovary(1) 2 TTGAAAGAGCAAATCAACATC 0.318 12 47 --- --- --- --- PASS RIF1 55183 broad.mit.edu 37 2 152322531 152322531 + Missense_Mutation SNP A G G TCGA-46-6026-01A-11D-1817-08 TCGA-46-6026-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 42a4a60c-257e-4bf6-a9ba-6f162dbca94a ca8e5a2b-459e-46c9-9818-cc8a71465b1f g.chr2:152322531A>G uc002txm.2 + 30 6627 c.6497A>G c.(6496-6498)CAG>CGG p.Q2166R RIF1_uc002txl.2_Missense_Mutation_p.Q2166R|RIF1_uc002txn.2_Missense_Mutation_p.Q2166R|RIF1_uc002txo.2_Missense_Mutation_p.Q2166R|RIF1_uc002txp.2_RNA NM_018151 NP_060621 Q5UIP0 RIF1_HUMAN RAP1 interacting factor 1 2166 Interaction with condensed chromosomes in telophase. cell cycle|response to DNA damage stimulus chromosome, telomeric region|cytoplasm|nucleus|spindle binding ovary(5)|breast(4)|skin(3)|lung(2)|kidney(1) 15 BRCA - Breast invasive adenocarcinoma(221;0.0429) AGTGGCATGCAGACACGCTGT 0.413 21 56 --- --- --- --- PASS GALNT13 114805 broad.mit.edu 37 2 155099239 155099239 + Silent SNP C T T TCGA-46-6026-01A-11D-1817-08 TCGA-46-6026-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 42a4a60c-257e-4bf6-a9ba-6f162dbca94a ca8e5a2b-459e-46c9-9818-cc8a71465b1f g.chr2:155099239C>T uc002tyr.3 + 6 1074 c.507C>T c.(505-507)TAC>TAT p.Y169Y GALNT13_uc002tyt.3_Silent_p.Y169Y|GALNT13_uc010foc.1_Translation_Start_Site NM_052917 NP_443149 Q8IUC8 GLT13_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide 169 Lumenal (Potential).|Catalytic subdomain A. Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding ovary(2)|pancreas(2)|central_nervous_system(1)|skin(1) 6 TAGAGAATTACGTGAAAAATT 0.353 13 39 --- --- --- --- PASS HOXD12 3238 broad.mit.edu 37 2 176964967 176964967 + Silent SNP G T T TCGA-46-6026-01A-11D-1817-08 TCGA-46-6026-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 42a4a60c-257e-4bf6-a9ba-6f162dbca94a ca8e5a2b-459e-46c9-9818-cc8a71465b1f g.chr2:176964967G>T uc010zev.1 + 1 438 c.438G>T c.(436-438)ACG>ACT p.T146T HOXD12_uc010zew.1_Silent_p.T146T NM_021193 NP_067016 P35452 HXD12_HUMAN homeobox D12 146 nuclear chromosome sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18) Colorectal(32;0.0521)|READ - Rectum adenocarcinoma(9;0.0678) GTCGTGCCACGCCGGGCTCCA 0.672 43 19 --- --- --- --- PASS PLEKHA3 65977 broad.mit.edu 37 2 179365898 179365898 + Missense_Mutation SNP C G G TCGA-46-6026-01A-11D-1817-08 TCGA-46-6026-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 42a4a60c-257e-4bf6-a9ba-6f162dbca94a ca8e5a2b-459e-46c9-9818-cc8a71465b1f g.chr2:179365898C>G uc002umn.2 + 7 1168 c.770C>G c.(769-771)CCA>CGA p.P257R NM_019091 NP_061964 Q9HB20 PKHA3_HUMAN pleckstrin homology domain containing, family A 257 cytoplasm|membrane ovary(1)|kidney(1) 2 OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.0266)|all cancers(119;0.0865) CTTGAAGACCCAGATAGTAAG 0.403 20 77 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179471836 179471836 + Missense_Mutation SNP T A A TCGA-46-6026-01A-11D-1817-08 TCGA-46-6026-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 42a4a60c-257e-4bf6-a9ba-6f162dbca94a ca8e5a2b-459e-46c9-9818-cc8a71465b1f g.chr2:179471836T>A uc010zfg.1 - 227 46013 c.45789A>T c.(45787-45789)CAA>CAT p.Q15263H uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.Q8958H|TTN_uc010zfi.1_Missense_Mutation_p.Q8891H|TTN_uc010zfj.1_Missense_Mutation_p.Q8766H NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 16190 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) ACTTATATTCTTGTCCCTCAA 0.413 53 191 --- --- --- --- PASS CPS1 1373 broad.mit.edu 37 2 211471548 211471548 + Missense_Mutation SNP G A A TCGA-46-6026-01A-11D-1817-08 TCGA-46-6026-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 42a4a60c-257e-4bf6-a9ba-6f162dbca94a ca8e5a2b-459e-46c9-9818-cc8a71465b1f g.chr2:211471548G>A uc002vee.3 + 18 2207 c.2075G>A c.(2074-2076)GGC>GAC p.G692D CPS1_uc010fur.2_Missense_Mutation_p.G698D|CPS1_uc010fus.2_Missense_Mutation_p.G241D NM_001875 NP_001866 P31327 CPSM_HUMAN carbamoyl-phosphate synthetase 1 isoform b 692 ATP-grasp 1. 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) CGCCACTTGGGCATTGTGGGT 0.473 62 40 --- --- --- --- PASS MARCH4 57574 broad.mit.edu 37 2 217142400 217142400 + Missense_Mutation SNP C A A TCGA-46-6026-01A-11D-1817-08 TCGA-46-6026-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 42a4a60c-257e-4bf6-a9ba-6f162dbca94a ca8e5a2b-459e-46c9-9818-cc8a71465b1f g.chr2:217142400C>A uc002vgb.2 - 3 2627 c.860G>T c.(859-861)TGC>TTC p.C287F NM_020814 NP_065865 Q9P2E8 MARH4_HUMAN membrane-associated ring finger (C3HC4) 4 287 Helical; (Potential). Golgi membrane|Golgi stack|integral to membrane|trans-Golgi network ubiquitin-protein ligase activity|zinc ion binding ovary(1) 1 Renal(323;0.0854) Epithelial(149;2.19e-05)|all cancers(144;0.00121)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0125) CCCACCTATGCACACCACGTC 0.577 25 55 --- --- --- --- PASS SPEG 10290 broad.mit.edu 37 2 220329246 220329246 + Missense_Mutation SNP G A A TCGA-46-6026-01A-11D-1817-08 TCGA-46-6026-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 42a4a60c-257e-4bf6-a9ba-6f162dbca94a ca8e5a2b-459e-46c9-9818-cc8a71465b1f g.chr2:220329246G>A uc010fwg.2 + 9 2797 c.2797G>A c.(2797-2799)GAG>AAG p.E933K SPEG_uc002vlm.2_RNA|SPEG_uc010fwh.1_Missense_Mutation_p.E141K|SPEG_uc002vln.1_Missense_Mutation_p.E141K|SPEG_uc002vlp.1_Missense_Mutation_p.E141K|SPEG_uc002vlq.2_Missense_Mutation_p.E84K NM_005876 NP_005867 Q15772 SPEG_HUMAN SPEG complex locus 933 Ig-like 3. muscle organ development|negative regulation of cell proliferation nucleus ATP binding|protein serine/threonine kinase activity stomach(9)|ovary(4)|central_nervous_system(1) 14 Renal(207;0.0183) Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163) CCTGGCTGCAGAGCGTGGCGA 0.637 27 20 --- --- --- --- PASS PAX3 5077 broad.mit.edu 37 2 223085987 223085987 + Silent SNP C G G TCGA-46-6026-01A-11D-1817-08 TCGA-46-6026-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 42a4a60c-257e-4bf6-a9ba-6f162dbca94a ca8e5a2b-459e-46c9-9818-cc8a71465b1f g.chr2:223085987C>G uc010fwo.2 - 6 1278 c.912G>C c.(910-912)ACG>ACC p.T304T PAX3_uc002vmt.1_Silent_p.T304T|PAX3_uc002vmy.1_Silent_p.T303T|PAX3_uc002vmv.1_Silent_p.T304T|PAX3_uc002vmw.1_Silent_p.T304T|PAX3_uc002vmx.1_Silent_p.T304T NM_181457 NP_852122 P23760 PAX3_HUMAN paired box 3 isoform PAX3 304 apoptosis|organ morphogenesis|positive regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity PAX3/FOXO1(749)|PAX3/NCOA1(8)|PAX3/NCOA2(4) soft_tissue(761)|ovary(4)|skin(1) 766 Renal(207;0.0183) Epithelial(121;4.13e-10)|all cancers(144;1.85e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) ACAGCTGGTACGTTGGCAAGG 0.537 T FOXO1A|NCOA1 alveolar rhabdomyosarcoma Waardenburg syndrome; craniofacial-deafness-hand syndrome 232 87 --- --- --- --- PASS DOCK10 55619 broad.mit.edu 37 2 225740851 225740851 + Missense_Mutation SNP C T T TCGA-46-6026-01A-11D-1817-08 TCGA-46-6026-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 42a4a60c-257e-4bf6-a9ba-6f162dbca94a ca8e5a2b-459e-46c9-9818-cc8a71465b1f g.chr2:225740851C>T uc010fwz.1 - 8 1074 c.835G>A c.(835-837)GAT>AAT p.D279N DOCK10_uc002vob.2_Missense_Mutation_p.D273N|DOCK10_uc002vod.1_Missense_Mutation_p.D279N NM_014689 NP_055504 Q96BY6 DOC10_HUMAN dedicator of cytokinesis 10 279 PH. GTP binding ovary(2) 2 Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14) Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178) ATCCATTCATCCATATCTGAC 0.458 17 55 --- --- --- --- PASS INPP5D 3635 broad.mit.edu 37 2 234104059 234104059 + Nonsense_Mutation SNP G T T TCGA-46-6026-01A-11D-1817-08 TCGA-46-6026-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 42a4a60c-257e-4bf6-a9ba-6f162dbca94a ca8e5a2b-459e-46c9-9818-cc8a71465b1f g.chr2:234104059G>T uc010zmo.1 + 23 2764 c.2611G>T c.(2611-2613)GAG>TAG p.E871* INPP5D_uc010zmp.1_Nonsense_Mutation_p.E870* NM_001017915 NP_001017915 Q92835 SHIP1_HUMAN SH2 containing inositol phosphatase isoform a 871 apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway cytosol inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding ovary(1)|central_nervous_system(1) 2 Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843) Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185) TGTGAAGACGGAGCGTGATGA 0.493 54 27 --- --- --- --- PASS SLC22A13 9390 broad.mit.edu 37 3 38307617 38307617 + Missense_Mutation SNP C T T TCGA-46-6026-01A-11D-1817-08 TCGA-46-6026-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 42a4a60c-257e-4bf6-a9ba-6f162dbca94a ca8e5a2b-459e-46c9-9818-cc8a71465b1f g.chr3:38307617C>T uc003chz.3 + 1 320 c.266C>T c.(265-267)CCC>CTC p.P89L SLC22A13_uc011aym.1_RNA|SLC22A13_uc011ayn.1_Missense_Mutation_p.P89L NM_004256 NP_004247 Q9Y226 S22AD_HUMAN solute carrier family 22 (organic anion 89 Extracellular (Potential). integral to plasma membrane organic cation transmembrane transporter activity skin(1) 1 KIRC - Kidney renal clear cell carcinoma(284;0.0533)|Kidney(284;0.067) TTCCGGCCACCCCCCGCCAAT 0.592 18 5 --- --- --- --- PASS SETD2 29072 broad.mit.edu 37 3 47144879 47144879 + Missense_Mutation SNP C T T TCGA-46-6026-01A-11D-1817-08 TCGA-46-6026-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 42a4a60c-257e-4bf6-a9ba-6f162dbca94a ca8e5a2b-459e-46c9-9818-cc8a71465b1f g.chr3:47144879C>T uc003cqs.2 - 7 4927 c.4874G>A c.(4873-4875)CGT>CAT p.R1625H SETD2_uc003cqv.2_Missense_Mutation_p.R1692H NM_014159 NP_054878 Q9BYW2 SETD2_HUMAN SET domain containing 2 1625 SET. R->H: Loss of methyltransferase activity. regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding kidney(24)|ovary(5)|skin(1)|central_nervous_system(1)|breast(1) 32 Acute lymphoblastic leukemia(5;0.0169) BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844) ATTCATGAAACGAGAGCAATT 0.348 N|F|S|Mis clear cell renal carcinoma 66 15 --- --- --- --- PASS DNAH1 25981 broad.mit.edu 37 3 52407054 52407054 + Missense_Mutation SNP G A A TCGA-46-6026-01A-11D-1817-08 TCGA-46-6026-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 42a4a60c-257e-4bf6-a9ba-6f162dbca94a ca8e5a2b-459e-46c9-9818-cc8a71465b1f g.chr3:52407054G>A uc011bef.1 + 44 7231 c.6970G>A c.(6970-6972)GAC>AAC p.D2324N NM_015512 NP_056327 Q9P2D7 DYH1_HUMAN dynein, axonemal, heavy chain 1 2324 AAA 3 (By similarity). ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity large_intestine(3) 3 BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) CGGCTGGTACGACCGCAAGAT 0.527 18 15 --- --- --- --- PASS CADM2 253559 broad.mit.edu 37 3 86028400 86028400 + Missense_Mutation SNP C A A TCGA-46-6026-01A-11D-1817-08 TCGA-46-6026-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 42a4a60c-257e-4bf6-a9ba-6f162dbca94a ca8e5a2b-459e-46c9-9818-cc8a71465b1f g.chr3:86028400C>A uc003dqj.2 + 8 1656 c.1030C>A c.(1030-1032)CCA>ACA p.P344T CADM2_uc003dqk.2_Intron|CADM2_uc003dql.2_Missense_Mutation_p.P346T NM_153184 NP_694854 Q8N3J6 CADM2_HUMAN immunoglobulin superfamily, member 4D 344 Thr-rich.|Extracellular (Potential). adherens junction organization|cell junction assembly integral to membrane|plasma membrane ovary(1)|lung(1)|kidney(1)|skin(1) 4 Lung NSC(201;0.0148) LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157) AACAACCAGCCCAACCACATC 0.453 167 25 --- --- --- --- PASS OR5H2 79310 broad.mit.edu 37 3 98002676 98002676 + Nonstop_Mutation SNP G C C TCGA-46-6026-01A-11D-1817-08 TCGA-46-6026-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 42a4a60c-257e-4bf6-a9ba-6f162dbca94a ca8e5a2b-459e-46c9-9818-cc8a71465b1f g.chr3:98002676G>C uc003dsj.1 + 1 945 c.945G>C c.(943-945)TAG>TAC p.*315Y NM_001005482 NP_001005482 Q8NGV7 OR5H2_HUMAN olfactory receptor, family 5, subfamily H, 315 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(3) 3 GAAATGTTTAGATTTCATAGT 0.254 9 16 --- --- --- --- PASS GPR15 2838 broad.mit.edu 37 3 98251616 98251616 + Missense_Mutation SNP G A A TCGA-46-6026-01A-11D-1817-08 TCGA-46-6026-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 42a4a60c-257e-4bf6-a9ba-6f162dbca94a ca8e5a2b-459e-46c9-9818-cc8a71465b1f g.chr3:98251616G>A uc011bgy.1 + 1 739 c.739G>A c.(739-741)GTG>ATG p.V247M NM_005290 NP_005281 P49685 GPR15_HUMAN G protein-coupled receptor 15 247 Helical; Name=6; (Potential). integral to plasma membrane purinergic nucleotide receptor activity, G-protein coupled ovary(1) 1 Lung NSC(201;7.93e-06)|all_neural(597;0.00172)|Hepatocellular(537;0.00825)|Myeloproliferative disorder(1037;0.0255) Lung(72;0.246) CTTTATTGTCGTGGCAGCCTT 0.448 19 76 --- --- --- --- PASS MORC1 27136 broad.mit.edu 37 3 108818237 108818237 + Missense_Mutation SNP G C C TCGA-46-6026-01A-11D-1817-08 TCGA-46-6026-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 42a4a60c-257e-4bf6-a9ba-6f162dbca94a ca8e5a2b-459e-46c9-9818-cc8a71465b1f g.chr3:108818237G>C uc003dxl.2 - 6 478 c.391C>G c.(391-393)CAG>GAG p.Q131E MORC1_uc011bhn.1_Missense_Mutation_p.Q131E NM_014429 NP_055244 Q86VD1 MORC1_HUMAN MORC family CW-type zinc finger 1 131 cell differentiation|multicellular organismal development|spermatogenesis nucleus ATP binding|zinc ion binding ovary(3)|skin(3)|breast(2) 8 CAGAATGTCTGAGAAAAAAAC 0.358 22 83 --- --- --- --- PASS TNIK 23043 broad.mit.edu 37 3 170802084 170802084 + Missense_Mutation SNP T C C TCGA-46-6026-01A-11D-1817-08 TCGA-46-6026-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 42a4a60c-257e-4bf6-a9ba-6f162dbca94a ca8e5a2b-459e-46c9-9818-cc8a71465b1f g.chr3:170802084T>C uc003fhh.2 - 26 3374 c.3029A>G c.(3028-3030)GAA>GGA p.E1010G TNIK_uc003fhi.2_Missense_Mutation_p.E955G|TNIK_uc003fhj.2_Missense_Mutation_p.E981G|TNIK_uc003fhk.2_Missense_Mutation_p.E1002G|TNIK_uc003fhl.2_Missense_Mutation_p.E926G|TNIK_uc003fhm.2_Missense_Mutation_p.E947G|TNIK_uc003fhn.2_Missense_Mutation_p.E973G|TNIK_uc003fho.2_Missense_Mutation_p.E918G|TNIK_uc003fhg.2_Missense_Mutation_p.E188G|TNIK_uc003fhp.2_5'Flank NM_015028 NP_055843 Q9UKE5 TNIK_HUMAN TRAF2 and NCK interacting kinase isoform 1 1010 Mediates interaction with NEDD4. actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway cytoskeleton|nucleus|recycling endosome ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity ovary(4)|large_intestine(1) 5 all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122) LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14) TTTGGCCTGTTCTTGCCTAAG 0.398 125 100 --- --- --- --- PASS KLHL6 89857 broad.mit.edu 37 3 183209889 183209889 + Silent SNP G A A TCGA-46-6026-01A-11D-1817-08 TCGA-46-6026-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 42a4a60c-257e-4bf6-a9ba-6f162dbca94a ca8e5a2b-459e-46c9-9818-cc8a71465b1f g.chr3:183209889G>A uc003flr.2 - 7 1750 c.1692C>T c.(1690-1692)GGC>GGT p.G564G KLHL6_uc003fls.1_RNA|KLHL6_uc003flt.1_3'UTR|KLHL6_uc010hxk.1_RNA NM_130446 NP_569713 Q8WZ60 KLHL6_HUMAN kelch-like 6 564 Kelch 6. haematopoietic_and_lymphoid_tissue(2)|ovary(1) 3 all_cancers(143;9.2e-12)|Ovarian(172;0.0172) all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22) CGTCCCGCCCGCCGGTGATGT 0.677 24 166 --- --- --- --- PASS CHRD 8646 broad.mit.edu 37 3 184100816 184100816 + Missense_Mutation SNP G T T TCGA-46-6026-01A-11D-1817-08 TCGA-46-6026-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 42a4a60c-257e-4bf6-a9ba-6f162dbca94a ca8e5a2b-459e-46c9-9818-cc8a71465b1f g.chr3:184100816G>T uc003fov.2 + 10 1324 c.1078G>T c.(1078-1080)GCT>TCT p.A360S CHRD_uc003fow.2_5'UTR|CHRD_uc003fox.2_Missense_Mutation_p.A360S|CHRD_uc003foy.2_5'UTR|CHRD_uc010hyc.2_5'UTR|CHRD_uc011brr.1_5'UTR NM_003741 NP_003732 Q9H2X0 CHRD_HUMAN chordin precursor 360 CHRD 2. BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development extracellular space cytokine binding skin(2)|ovary(1) 3 all_cancers(143;6.33e-11)|Ovarian(172;0.0339) Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) ACCAGGCTTTGCTGAGGTGCT 0.637 5 28 --- --- --- --- PASS OCIAD2 132299 broad.mit.edu 37 4 48887563 48887563 + Nonsense_Mutation SNP C A A TCGA-46-6026-01A-11D-1817-08 TCGA-46-6026-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 42a4a60c-257e-4bf6-a9ba-6f162dbca94a ca8e5a2b-459e-46c9-9818-cc8a71465b1f g.chr4:48887563C>A uc003gyt.2 - 7 606 c.403G>T c.(403-405)GAG>TAG p.E135* OCIAD2_uc003gyu.2_Silent_p.V95V NM_001014446 NP_001014446 Q56VL3 OCAD2_HUMAN OCIA domain containing 2 isoform 1 135 endosome 0 TTGCATTCCTCACAGGTAAGG 0.393 87 68 --- --- --- --- PASS KDR 3791 broad.mit.edu 37 4 55972048 55972048 + Silent SNP C A A rs138803814 byFrequency TCGA-46-6026-01A-11D-1817-08 TCGA-46-6026-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 42a4a60c-257e-4bf6-a9ba-6f162dbca94a ca8e5a2b-459e-46c9-9818-cc8a71465b1f g.chr4:55972048C>A uc003has.2 - 12 1898 c.1596G>T c.(1594-1596)GCG>GCT p.A532A KDR_uc003hat.1_Silent_p.A532A|KDR_uc011bzx.1_Silent_p.A532A NM_002253 NP_002244 P35968 VGFR2_HUMAN kinase insert domain receptor precursor 532 Ig-like C2-type 5.|Extracellular (Potential). angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape integral to plasma membrane ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity lung(16)|soft_tissue(4)|central_nervous_system(4)|large_intestine(2)|stomach(2)|skin(2)|ovary(2)|kidney(1) 33 all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101) Epithelial(7;0.189) Sorafenib(DB00398)|Sunitinib(DB01268) CTTTGTTGACCGCTTCACATT 0.493 Mis NSCLC|angiosarcoma Familial_Infantile_Hemangioma TSP Lung(20;0.16) 57 222 --- --- --- --- PASS NMU 10874 broad.mit.edu 37 4 56496629 56496629 + Splice_Site SNP T A A TCGA-46-6026-01A-11D-1817-08 TCGA-46-6026-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 42a4a60c-257e-4bf6-a9ba-6f162dbca94a ca8e5a2b-459e-46c9-9818-cc8a71465b1f g.chr4:56496629T>A uc003hbc.2 - 2 219 c.113_splice c.e2-1 p.G38_splice NMU_uc003hbd.1_Splice_Site|NMU_uc010igv.1_Splice_Site|NMU_uc010igw.1_Splice_Site|NMU_uc010igx.1_Splice_Site NM_006681 NP_006672 P48645 NMU_HUMAN neuromedin U precursor neuropeptide signaling pathway extracellular region 0 Lung NSC(11;0.00256)|all_epithelial(27;0.075)|Glioma(25;0.08)|all_neural(26;0.101) all_hematologic(202;0.103) LUSC - Lung squamous cell carcinoma(4;6.72e-08)|Lung(4;6.22e-07)|Epithelial(7;0.00559) LUSC - Lung squamous cell carcinoma(721;0.0115) TTGGAGCACCTAAAAATAAAG 0.323 23 41 --- --- --- --- PASS GRID2 2895 broad.mit.edu 37 4 94376864 94376864 + Missense_Mutation SNP G A A TCGA-46-6026-01A-11D-1817-08 TCGA-46-6026-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 42a4a60c-257e-4bf6-a9ba-6f162dbca94a ca8e5a2b-459e-46c9-9818-cc8a71465b1f g.chr4:94376864G>A uc011cdt.1 + 11 1855 c.1597G>A c.(1597-1599)GTG>ATG p.V533M GRID2_uc011cdu.1_Missense_Mutation_p.V438M NM_001510 NP_001501 O43424 GRID2_HUMAN glutamate receptor, ionotropic, delta 2 533 Extracellular (Potential). glutamate signaling pathway cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity ovary(3)|skin(2)|large_intestine(1) 6 Hepatocellular(203;0.114)|all_hematologic(202;0.177) OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191) L-Glutamic Acid(DB00142) TCGTGAAAATGTGGTGGACTT 0.418 55 42 --- --- --- --- PASS KIAA1109 84162 broad.mit.edu 37 4 123274300 123274300 + Missense_Mutation SNP C G G TCGA-46-6026-01A-11D-1817-08 TCGA-46-6026-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 42a4a60c-257e-4bf6-a9ba-6f162dbca94a ca8e5a2b-459e-46c9-9818-cc8a71465b1f g.chr4:123274300C>G uc003ieh.2 + 79 14136 c.14091C>G c.(14089-14091)ATC>ATG p.I4697M KIAA1109_uc003iem.2_Missense_Mutation_p.I1053M NM_015312 NP_056127 Q2LD37 K1109_HUMAN fragile site-associated protein 4697 regulation of cell growth|regulation of epithelial cell differentiation integral to membrane|nucleus ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1) 12 CTCAGAAAATCTGGGAAGATG 0.358 20 35 --- --- --- --- PASS UCP1 7350 broad.mit.edu 37 4 141489864 141489864 + Missense_Mutation SNP G A A TCGA-46-6026-01A-11D-1817-08 TCGA-46-6026-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 42a4a60c-257e-4bf6-a9ba-6f162dbca94a ca8e5a2b-459e-46c9-9818-cc8a71465b1f g.chr4:141489864G>A uc011chj.1 - 1 96 c.20C>T c.(19-21)TCG>TTG p.S7L UCP1_uc011chk.1_Missense_Mutation_p.S7L NM_021833 NP_068605 P25874 UCP1_HUMAN uncoupling protein 1 7 brown fat cell differentiation|cellular lipid metabolic process|respiratory electron transport chain integral to membrane|mitochondrial inner membrane binding ovary(1) 1 all_hematologic(180;0.162) GTGTACGTCCGAGGCTGTCAG 0.617 4 11 --- --- --- --- PASS NR3C2 4306 broad.mit.edu 37 4 149075781 149075781 + Silent SNP G A A rs147478460 TCGA-46-6026-01A-11D-1817-08 TCGA-46-6026-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 42a4a60c-257e-4bf6-a9ba-6f162dbca94a ca8e5a2b-459e-46c9-9818-cc8a71465b1f g.chr4:149075781G>A uc003ilj.3 - 5 2620 c.2286C>T c.(2284-2286)GCC>GCT p.A762A NR3C2_uc003ilk.3_Intron|NR3C2_uc010iph.2_Intron NM_000901 NP_000892 P08235 MCR_HUMAN nuclear receptor subfamily 3, group C, member 2 762 Steroid-binding. regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor endoplasmic reticulum membrane|nucleoplasm protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding large_intestine(1) 1 all_hematologic(180;0.151) GBM - Glioblastoma multiforme(119;0.0614) Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421) GCAGATTTTCGGCTGTATCTG 0.483 8 189 --- --- --- --- PASS FHDC1 85462 broad.mit.edu 37 4 153897750 153897750 + Nonsense_Mutation SNP G T T TCGA-46-6026-01A-11D-1817-08 TCGA-46-6026-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 42a4a60c-257e-4bf6-a9ba-6f162dbca94a ca8e5a2b-459e-46c9-9818-cc8a71465b1f g.chr4:153897750G>T uc003inf.2 + 11 3382 c.3307G>T c.(3307-3309)GAG>TAG p.E1103* NM_033393 NP_203751 Q9C0D6 FHDC1_HUMAN FH2 domain containing 1 1103 actin cytoskeleton organization actin binding large_intestine(1)|ovary(1) 2 all_hematologic(180;0.093) AGAGTCTGCGGAGGGTCCCAG 0.687 11 7 --- --- --- --- PASS FGA 2243 broad.mit.edu 37 4 155507479 155507479 + Missense_Mutation SNP C T T rs139005577 TCGA-46-6026-01A-11D-1817-08 TCGA-46-6026-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 42a4a60c-257e-4bf6-a9ba-6f162dbca94a ca8e5a2b-459e-46c9-9818-cc8a71465b1f g.chr4:155507479C>T uc003iod.1 - 5 1160 c.1102G>A c.(1102-1104)GGA>AGA p.G368R FGA_uc003ioe.1_Missense_Mutation_p.G368R|FGA_uc003iof.1_Intron NM_000508 NP_000499 P02671 FIBA_HUMAN fibrinogen, alpha polypeptide isoform alpha-E 368 By similarity. platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen eukaryotic cell surface binding|protein binding, bridging|receptor binding ovary(2)|breast(1) 3 all_hematologic(180;0.215) Renal(120;0.0458) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031) CCAGCACTTCCGCGTTCAGAG 0.547 52 43 --- --- --- --- PASS FAT1 2195 broad.mit.edu 37 4 187509794 187509794 + Silent SNP T C C TCGA-46-6026-01A-11D-1817-08 TCGA-46-6026-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 42a4a60c-257e-4bf6-a9ba-6f162dbca94a ca8e5a2b-459e-46c9-9818-cc8a71465b1f g.chr4:187509794T>C uc003izf.2 - 27 13907 c.13719A>G c.(13717-13719)GAA>GAG p.E4573E FAT1_uc010isn.2_Silent_p.E220E|FAT1_uc003ize.2_Silent_p.E464E NM_005245 NP_005236 Q14517 FAT1_HUMAN FAT tumor suppressor 1 precursor 4573 Cytoplasmic (Potential). actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding ovary(10)|central_nervous_system(1)|pancreas(1) 12 TCGTCACCTCTTCGAAGTGGC 0.587 HNSCC(5;0.00058) 23 2 --- --- --- --- PASS TRIML1 339976 broad.mit.edu 37 4 189060895 189060895 + Missense_Mutation SNP G C C TCGA-46-6026-01A-11D-1817-08 TCGA-46-6026-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 42a4a60c-257e-4bf6-a9ba-6f162dbca94a ca8e5a2b-459e-46c9-9818-cc8a71465b1f g.chr4:189060895G>C uc003izm.1 + 1 298 c.183G>C c.(181-183)GAG>GAC p.E61D NM_178556 NP_848651 Q8N9V2 TRIML_HUMAN tripartite motif family-like 1 61 multicellular organismal development ligase activity|zinc ion binding ovary(1)|pancreas(1)|breast(1)|skin(1) 4 all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062) OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156) GGACCTTGGAGGGCCCGCATT 0.607 82 57 --- --- --- --- PASS PLEKHG4B 153478 broad.mit.edu 37 5 171161 171161 + Missense_Mutation SNP G C C TCGA-46-6026-01A-11D-1817-08 TCGA-46-6026-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 42a4a60c-257e-4bf6-a9ba-6f162dbca94a ca8e5a2b-459e-46c9-9818-cc8a71465b1f g.chr5:171161G>C uc003jak.2 + 13 2715 c.2665G>C c.(2665-2667)GAG>CAG p.E889Q NM_052909 NP_443141 Q96PX9 PKH4B_HUMAN pleckstrin homology domain containing, family G 889 DH. regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity skin(2) 2 all cancers(22;0.0253)|Lung(60;0.113) Kidney(1;0.119) TTTCCAGGAAGAGCAGTTTGG 0.602 31 117 --- --- --- --- PASS FAM105A 54491 broad.mit.edu 37 5 14610393 14610393 + Silent SNP C T T TCGA-46-6026-01A-11D-1817-08 TCGA-46-6026-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 42a4a60c-257e-4bf6-a9ba-6f162dbca94a ca8e5a2b-459e-46c9-9818-cc8a71465b1f g.chr5:14610393C>T uc003jfj.2 + 8 1154 c.1041C>T c.(1039-1041)AAC>AAT p.N347N NM_019018 NP_061891 Q9NUU6 F105A_HUMAN hypothetical protein LOC54491 347 ovary(1) 1 Lung NSC(4;0.00592) TGACCGAGAACGACCGCCACT 0.532 30 101 --- --- --- --- PASS CDH12 1010 broad.mit.edu 37 5 21842439 21842439 + Splice_Site SNP T A A TCGA-46-6026-01A-11D-1817-08 TCGA-46-6026-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 42a4a60c-257e-4bf6-a9ba-6f162dbca94a ca8e5a2b-459e-46c9-9818-cc8a71465b1f g.chr5:21842439T>A uc010iuc.2 - 5 1105 c.647_splice c.e5-1 p.G216_splice CDH12_uc011cno.1_Splice_Site_p.G176_splice|CDH12_uc003jgk.2_Splice_Site_p.G216_splice NM_004061 NP_004052 P55289 CAD12_HUMAN cadherin 12, type 2 preproprotein adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2) 2 TAATAACACCTTAAGGGATAA 0.343 HNSCC(59;0.17) 34 90 --- --- --- --- PASS FGF10 2255 broad.mit.edu 37 5 44388780 44388780 + Missense_Mutation SNP C G G TCGA-46-6026-01A-11D-1817-08 TCGA-46-6026-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 42a4a60c-257e-4bf6-a9ba-6f162dbca94a ca8e5a2b-459e-46c9-9818-cc8a71465b1f g.chr5:44388780C>G uc003jog.1 - 1 5 c.5G>C c.(4-6)TGG>TCG p.W2S NM_004465 NP_004456 O15520 FGF10_HUMAN fibroblast growth factor 10 precursor 2 actin cytoskeleton reorganization|activation of MAPK activity|bud outgrowth involved in lung branching|ERK1 and ERK2 cascade|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|insulin receptor signaling pathway|lacrimal gland development|lung saccule development|mesonephros development|negative regulation of cell cycle arrest|positive regulation of ATPase activity|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of DNA repair|positive regulation of DNA replication|positive regulation of epithelial cell migration|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of ERK1 and ERK2 cascade|positive regulation of hair follicle cell proliferation|positive regulation of keratinocyte migration|positive regulation of keratinocyte proliferation|positive regulation of lymphocyte proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of Ras protein signal transduction|positive regulation of transcription, DNA-dependent|positive regulation of urothelial cell proliferation|protein localization at cell surface|radial glial cell differentiation|regulation of saliva secretion|response to protein stimulus|secretion by lung epithelial cell involved in lung growth|tear secretion|thymus development|urothelial cell proliferation cell surface|extracellular space|nucleus|plasma membrane chemoattractant activity|growth factor activity|heparin binding|type 2 fibroblast growth factor receptor binding lung(3) 3 Lung NSC(6;1.12e-06) TATCCATTTCCACATTGTACT 0.522 16 73 --- --- --- --- PASS HCN1 348980 broad.mit.edu 37 5 45396653 45396653 + Missense_Mutation SNP C A A TCGA-46-6026-01A-11D-1817-08 TCGA-46-6026-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 42a4a60c-257e-4bf6-a9ba-6f162dbca94a ca8e5a2b-459e-46c9-9818-cc8a71465b1f g.chr5:45396653C>A uc003jok.2 - 4 1196 c.1171G>T c.(1171-1173)GGC>TGC p.G391C NM_021072 NP_066550 O60741 HCN1_HUMAN hyperpolarization activated cyclic 391 Helical; Name=Segment S6; (Potential). integral to membrane cAMP binding|sodium channel activity|voltage-gated potassium channel activity ovary(1) 1 GTGGCATGGCCGACAAACATG 0.498 51 35 --- --- --- --- PASS PJA2 9867 broad.mit.edu 37 5 108714199 108714199 + Missense_Mutation SNP T G G TCGA-46-6026-01A-11D-1817-08 TCGA-46-6026-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 42a4a60c-257e-4bf6-a9ba-6f162dbca94a ca8e5a2b-459e-46c9-9818-cc8a71465b1f g.chr5:108714199T>G uc003kos.3 - 4 1209 c.989A>C c.(988-990)GAA>GCA p.E330A NM_014819 NP_055634 O43164 PJA2_HUMAN praja 2, RING-H2 motif containing 330 long-term memory|regulation of protein kinase A signaling cascade cell junction|endoplasmic reticulum membrane|Golgi membrane|postsynaptic density|postsynaptic membrane ligase activity|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|zinc ion binding ovary(1)|skin(1) 2 all_cancers(142;4.4e-06)|all_epithelial(76;8.17e-08)|Prostate(80;0.00676)|Lung NSC(167;0.0436)|Ovarian(225;0.0443)|all_lung(232;0.053)|Colorectal(57;0.0946)|Breast(839;0.151) OV - Ovarian serous cystadenocarcinoma(64;3.46e-10)|Epithelial(69;6.02e-09)|COAD - Colon adenocarcinoma(37;0.224) AAAACCTGTTTCTTGGTCCAC 0.408 123 15 --- --- --- --- PASS COMMD10 51397 broad.mit.edu 37 5 115628151 115628151 + Missense_Mutation SNP G A A TCGA-46-6026-01A-11D-1817-08 TCGA-46-6026-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 42a4a60c-257e-4bf6-a9ba-6f162dbca94a ca8e5a2b-459e-46c9-9818-cc8a71465b1f g.chr5:115628151G>A uc003krt.1 + 7 597 c.574G>A c.(574-576)GAG>AAG p.E192K NM_016144 NP_057228 Q9Y6G5 COMDA_HUMAN COMM domain containing 10 192 COMM. protein binding ovary(1) 1 all_cancers(142;0.0834)|all_epithelial(76;0.00314)|Prostate(80;0.0102)|Ovarian(225;0.232) OV - Ovarian serous cystadenocarcinoma(64;4.3e-07)|Epithelial(69;8.06e-07)|all cancers(49;4.06e-05) TAAATAGCTAGAGACTATACA 0.343 48 12 --- --- --- --- PASS FBN2 2201 broad.mit.edu 37 5 127727716 127727716 + Missense_Mutation SNP C A A TCGA-46-6026-01A-11D-1817-08 TCGA-46-6026-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 42a4a60c-257e-4bf6-a9ba-6f162dbca94a ca8e5a2b-459e-46c9-9818-cc8a71465b1f g.chr5:127727716C>A uc003kuu.2 - 11 2037 c.1598G>T c.(1597-1599)TGT>TTT p.C533F FBN2_uc003kuv.2_Missense_Mutation_p.C500F NM_001999 NP_001990 P35556 FBN2_HUMAN fibrillin 2 precursor 533 EGF-like 6. bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation microfibril calcium ion binding|extracellular matrix structural constituent ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1) 15 all_cancers(142;0.0216)|Prostate(80;0.0551) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146) CTTACCTATACAATCTCCATT 0.328 37 9 --- --- --- --- PASS FNIP1 96459 broad.mit.edu 37 5 131008549 131008549 + Missense_Mutation SNP C A A TCGA-46-6026-01A-11D-1817-08 TCGA-46-6026-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 42a4a60c-257e-4bf6-a9ba-6f162dbca94a ca8e5a2b-459e-46c9-9818-cc8a71465b1f g.chr5:131008549C>A uc003kvs.1 - 14 1730 c.1588G>T c.(1588-1590)GAC>TAC p.D530Y RAPGEF6_uc003kvp.1_Intron|FNIP1_uc003kvt.1_Missense_Mutation_p.D502Y|FNIP1_uc010jdm.1_Missense_Mutation_p.D485Y NM_133372 NP_588613 Q8TF40 FNIP1_HUMAN folliculin interacting protein 1 isoform 1 530 regulation of protein phosphorylation cytoplasm protein binding pancreas(1)|skin(1) 2 all_cancers(142;0.00347)|Lung NSC(810;0.106)|all_lung(232;0.123)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) Lung(113;0.0665) TGGACCATGTCTTGTCGTTTG 0.403 43 14 --- --- --- --- PASS SH3RF2 153769 broad.mit.edu 37 5 145435759 145435759 + Missense_Mutation SNP G A A rs141349885 byFrequency TCGA-46-6026-01A-11D-1817-08 TCGA-46-6026-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 42a4a60c-257e-4bf6-a9ba-6f162dbca94a ca8e5a2b-459e-46c9-9818-cc8a71465b1f g.chr5:145435759G>A uc003lnt.2 + 8 1776 c.1538G>A c.(1537-1539)CGG>CAG p.R513Q SH3RF2_uc011dbl.1_Missense_Mutation_p.R513Q|SH3RF2_uc011dbm.1_5'UTR|SH3RF2_uc003lnu.2_5'UTR|SH3RF2_uc011dbn.1_5'UTR NM_152550 NP_689763 Q8TEC5 SH3R2_HUMAN SH3 domain containing ring finger 2 513 ligase activity|protein phosphatase 1 binding|zinc ion binding ovary(1)|skin(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) CGGAAAGGGCGGAGCAGCATG 0.552 44 9 --- --- --- --- PASS POU4F3 5459 broad.mit.edu 37 5 145718768 145718768 + Missense_Mutation SNP G T T TCGA-46-6026-01A-11D-1817-08 TCGA-46-6026-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 42a4a60c-257e-4bf6-a9ba-6f162dbca94a ca8e5a2b-459e-46c9-9818-cc8a71465b1f g.chr5:145718768G>T uc003loa.2 + 1 182 c.93G>T c.(91-93)ATG>ATT p.M31I NM_002700 NP_002691 Q15319 PO4F3_HUMAN POU class 4 homeobox 3 31 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) CCGAGGCCATGCGCCGAGTCT 0.537 39 10 --- --- --- --- PASS MRPL22 29093 broad.mit.edu 37 5 154330396 154330396 + Silent SNP A T T TCGA-46-6026-01A-11D-1817-08 TCGA-46-6026-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 42a4a60c-257e-4bf6-a9ba-6f162dbca94a ca8e5a2b-459e-46c9-9818-cc8a71465b1f g.chr5:154330396A>T uc003lvy.3 + 3 131 c.93A>T c.(91-93)TCA>TCT p.S31S MRPL22_uc003lvz.3_Intron NM_014180 NP_054899 Q9NWU5 RM22_HUMAN mitochondrial ribosomal protein L22 isoform a 31 translation large ribosomal subunit|mitochondrion structural constituent of ribosome 0 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.147) KIRC - Kidney renal clear cell carcinoma(527;0.00112) TACCTCAATCATATATCCACA 0.393 46 11 --- --- --- --- PASS DOCK2 1794 broad.mit.edu 37 5 169472827 169472827 + Missense_Mutation SNP A C C TCGA-46-6026-01A-11D-1817-08 TCGA-46-6026-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 42a4a60c-257e-4bf6-a9ba-6f162dbca94a ca8e5a2b-459e-46c9-9818-cc8a71465b1f g.chr5:169472827A>C uc003maf.2 + 39 3964 c.3884A>C c.(3883-3885)GAA>GCA p.E1295A DOCK2_uc011der.1_RNA|DOCK2_uc010jjm.2_Missense_Mutation_p.E787A NM_004946 NP_004937 Q92608 DOCK2_HUMAN dedicator of cytokinesis 2 1295 DHR-2.|Interaction with CRKL. actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction cytoskeleton|cytosol|endomembrane system|membrane electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding ovary(5)|pancreas(2) 7 Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) TAGATGTGGGAAGAGGCCATA 0.562 42 11 --- --- --- --- PASS MSX2 4488 broad.mit.edu 37 5 174156192 174156192 + Missense_Mutation SNP G T T TCGA-46-6026-01A-11D-1817-08 TCGA-46-6026-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 42a4a60c-257e-4bf6-a9ba-6f162dbca94a ca8e5a2b-459e-46c9-9818-cc8a71465b1f g.chr5:174156192G>T uc003mcy.2 + 2 498 c.410G>T c.(409-411)AGG>ATG p.R137M NM_002449 NP_002440 P35548 MSX2_HUMAN msh homeobox 2 137 cranial suture morphogenesis|negative regulation of transcription, DNA-dependent|osteoblast differentiation cytoplasm|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding 0 Renal(175;0.000159)|Lung NSC(126;0.0196)|all_lung(126;0.0303) Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183) TGCACCCTGAGGAAACACAAG 0.488 9 18 --- --- --- --- PASS NSD1 64324 broad.mit.edu 37 5 176684105 176684105 + Missense_Mutation SNP G C C TCGA-46-6026-01A-11D-1817-08 TCGA-46-6026-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 42a4a60c-257e-4bf6-a9ba-6f162dbca94a ca8e5a2b-459e-46c9-9818-cc8a71465b1f g.chr5:176684105G>C uc003mfr.3 + 13 5057 c.4919G>C c.(4918-4920)TGT>TCT p.C1640S NSD1_uc003mft.3_Missense_Mutation_p.C1371S|NSD1_uc003mfs.1_Missense_Mutation_p.C1537S|NSD1_uc011dfx.1_Missense_Mutation_p.C1288S NM_022455 NP_071900 Q96L73 NSD1_HUMAN nuclear receptor binding SET domain protein 1 1640 PHD-type 2. negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding ovary(2)|kidney(1) 3 all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198) Kidney(146;0.235) CTCCACATCTGTATAACCTGT 0.443 T NUP98 AML Sotos Syndrome Beckwith-Wiedemann_syndrome|Sotos_syndrome|Weaver_syndrome HNSCC(47;0.14) 24 7 --- --- --- --- PASS HIST1H3G 8355 broad.mit.edu 37 6 26271447 26271447 + Nonsense_Mutation SNP G A A TCGA-46-6026-01A-11D-1817-08 TCGA-46-6026-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 42a4a60c-257e-4bf6-a9ba-6f162dbca94a ca8e5a2b-459e-46c9-9818-cc8a71465b1f g.chr6:26271447G>A uc003nhi.2 - 1 166 c.166C>T c.(166-168)CAG>TAG p.Q56* uc003nhj.2_5'Flank|HIST1H2BI_uc003nhk.2_5'Flank NM_003534 NP_003525 P68431 H31_HUMAN H3 histone family, member H 56 blood coagulation|nucleosome assembly|regulation of gene silencing|S phase nucleoplasm|nucleosome DNA binding|protein binding 0 GTCGACTTCTGATAGCGGCGA 0.607 65 71 --- --- --- --- PASS OR2J3 442186 broad.mit.edu 37 6 29080187 29080187 + Missense_Mutation SNP C A A TCGA-46-6026-01A-11D-1817-08 TCGA-46-6026-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 42a4a60c-257e-4bf6-a9ba-6f162dbca94a ca8e5a2b-459e-46c9-9818-cc8a71465b1f g.chr6:29080187C>A uc011dll.1 + 1 520 c.520C>A c.(520-522)CAC>AAC p.H174N NM_001005216 NP_001005216 O76001 OR2J3_HUMAN olfactory receptor, family 2, subfamily J, 174 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 TCTGTGTGGACACCGCCAAGT 0.498 114 96 --- --- --- --- PASS PGC 5225 broad.mit.edu 37 6 41708268 41708268 + Missense_Mutation SNP G A A TCGA-46-6026-01A-11D-1817-08 TCGA-46-6026-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 42a4a60c-257e-4bf6-a9ba-6f162dbca94a ca8e5a2b-459e-46c9-9818-cc8a71465b1f g.chr6:41708268G>A uc003ora.1 - 6 777 c.728C>T c.(727-729)CCT>CTT p.P243L NM_002630 NP_002621 P20142 PEPC_HUMAN progastricsin (pepsinogen C) precursor 243 digestion|proteolysis extracellular space aspartic-type endopeptidase activity 0 Ovarian(28;0.0355)|Colorectal(47;0.121) Epithelial(12;0.000132)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507) CTGGGTGACAGGCGCCCAGTA 0.617 76 65 --- --- --- --- PASS DEFB114 245928 broad.mit.edu 37 6 49928073 49928073 + Missense_Mutation SNP C G G TCGA-46-6026-01A-11D-1817-08 TCGA-46-6026-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 42a4a60c-257e-4bf6-a9ba-6f162dbca94a ca8e5a2b-459e-46c9-9818-cc8a71465b1f g.chr6:49928073C>G uc011dwp.1 - 2 142 c.142G>C c.(142-144)GAC>CAC p.D48H NM_001037499 NP_001032588 Q30KQ6 DB114_HUMAN beta-defensin 114 precursor 48 defense response to bacterium extracellular region ovary(1) 1 Lung NSC(77;0.042) GAACATATGTCTATTTGCTTT 0.373 34 36 --- --- --- --- PASS PAQR8 85315 broad.mit.edu 37 6 52268797 52268797 + Silent SNP C T T TCGA-46-6026-01A-11D-1817-08 TCGA-46-6026-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 42a4a60c-257e-4bf6-a9ba-6f162dbca94a ca8e5a2b-459e-46c9-9818-cc8a71465b1f g.chr6:52268797C>T uc003pao.3 + 2 960 c.786C>T c.(784-786)TTC>TTT p.F262F NM_133367 NP_588608 Q8TEZ7 MPRB_HUMAN progestin and adipoQ receptor family member 262 Helical; Name=5; (Potential). cell differentiation|multicellular organismal development|oogenesis integral to membrane|plasma membrane receptor activity|steroid binding 0 Lung NSC(77;0.0875) CTTATTTCTTCTCCTGCCCCG 0.577 46 50 --- --- --- --- PASS DST 667 broad.mit.edu 37 6 56350253 56350253 + Missense_Mutation SNP C T T TCGA-46-6026-01A-11D-1817-08 TCGA-46-6026-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 42a4a60c-257e-4bf6-a9ba-6f162dbca94a ca8e5a2b-459e-46c9-9818-cc8a71465b1f g.chr6:56350253C>T uc003pdf.2 - 82 14735 c.14707G>A c.(14707-14709)GAA>AAA p.E4903K DST_uc003pcz.3_Missense_Mutation_p.E4725K|DST_uc011dxj.1_Missense_Mutation_p.E4754K|DST_uc011dxk.1_Missense_Mutation_p.E4765K|DST_uc003pcy.3_Missense_Mutation_p.E4399K|DST_uc003pda.3_Missense_Mutation_p.E95K NM_001144769 NP_001138241 Q03001 DYST_HUMAN dystonin isoform 2 6811 Spectrin 18. cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1) 14 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) AACAGGGCTTCCTCCAATTTG 0.388 17 30 --- --- --- --- PASS DST 667 broad.mit.edu 37 6 56497780 56497780 + Missense_Mutation SNP C T T TCGA-46-6026-01A-11D-1817-08 TCGA-46-6026-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 42a4a60c-257e-4bf6-a9ba-6f162dbca94a ca8e5a2b-459e-46c9-9818-cc8a71465b1f g.chr6:56497780C>T uc003pdf.2 - 27 3606 c.3578G>A c.(3577-3579)CGT>CAT p.R1193H DST_uc003pcz.3_Missense_Mutation_p.R1015H|DST_uc011dxj.1_Missense_Mutation_p.R1044H|DST_uc011dxk.1_Missense_Mutation_p.R1055H|DST_uc003pcy.3_Missense_Mutation_p.R689H|DST_uc003pdb.2_Missense_Mutation_p.R689H|DST_uc003pdc.3_Missense_Mutation_p.R689H|DST_uc003pdd.3_Missense_Mutation_p.R689H NM_001144769 NP_001138241 Q03001 DYST_HUMAN dystonin isoform 2 1015 cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity p.R689H(1)|p.R1015H(1) ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1) 14 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) ATCTTCAAAACGAGATTGTAG 0.358 15 108 --- --- --- --- PASS SLC17A5 26503 broad.mit.edu 37 6 74331542 74331542 + Silent SNP C T T TCGA-46-6026-01A-11D-1817-08 TCGA-46-6026-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 42a4a60c-257e-4bf6-a9ba-6f162dbca94a ca8e5a2b-459e-46c9-9818-cc8a71465b1f g.chr6:74331542C>T uc003phn.3 - 7 1091 c.963G>A c.(961-963)AGG>AGA p.R321R SLC17A5_uc010kax.2_Intron|SLC17A5_uc010kay.2_RNA|SLC17A5_uc011dyo.1_Silent_p.R190R NM_012434 NP_036566 Q9NRA2 S17A5_HUMAN sialin 321 anion transport integral to plasma membrane|lysosomal membrane|membrane fraction sialic acid:hydrogen symporter activity skin(5)|central_nervous_system(1) 6 GAACATTGAACCTTAGGATCT 0.323 15 29 --- --- --- --- PASS PHIP 55023 broad.mit.edu 37 6 79752705 79752705 + Missense_Mutation SNP G A A TCGA-46-6026-01A-11D-1817-08 TCGA-46-6026-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 42a4a60c-257e-4bf6-a9ba-6f162dbca94a ca8e5a2b-459e-46c9-9818-cc8a71465b1f g.chr6:79752705G>A uc003pir.2 - 7 681 c.455C>T c.(454-456)TCA>TTA p.S152L PHIP_uc011dyp.1_Missense_Mutation_p.S152L NM_017934 NP_060404 Q8WWQ0 PHIP_HUMAN pleckstrin homology domain interacting protein 152 insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis nucleus insulin receptor binding large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|ovary(1) 6 all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219) BRCA - Breast invasive adenocarcinoma(397;0.231) CAGCTTCCTTGAAAACAGAGT 0.353 142 140 --- --- --- --- PASS LAMA2 3908 broad.mit.edu 37 6 129775399 129775399 + Missense_Mutation SNP G A A TCGA-46-6026-01A-11D-1817-08 TCGA-46-6026-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 42a4a60c-257e-4bf6-a9ba-6f162dbca94a ca8e5a2b-459e-46c9-9818-cc8a71465b1f g.chr6:129775399G>A uc003qbn.2 + 46 6778 c.6673G>A c.(6673-6675)GAT>AAT p.D2225N LAMA2_uc003qbo.2_Missense_Mutation_p.D2225N NM_000426 NP_000417 P24043 LAMA2_HUMAN laminin alpha 2 subunit isoform a precursor 2225 Laminin G-like 1. cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity ovary(8)|breast(1)|skin(1) 10 OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245) TTTGACTATTGATGACTCATA 0.368 26 53 --- --- --- --- PASS FAM20C 56975 broad.mit.edu 37 7 195587 195587 + Silent SNP C G G TCGA-46-6026-01A-11D-1817-08 TCGA-46-6026-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 42a4a60c-257e-4bf6-a9ba-6f162dbca94a ca8e5a2b-459e-46c9-9818-cc8a71465b1f g.chr7:195587C>G uc003sip.2 + 2 870 c.639C>G c.(637-639)CTC>CTG p.L213L NM_020223 NP_064608 Q8IXL6 DMP4_HUMAN family with sequence similarity 20, member C 213 extracellular region 0 Ovarian(82;0.0112) UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.57e-17)|Epithelial(4;1.26e-16)|all cancers(6;4.79e-14) CAGAATTCCTCTCCCCCGGGG 0.612 10 16 --- --- --- --- PASS DNAH11 8701 broad.mit.edu 37 7 21584665 21584665 + Silent SNP G A A TCGA-46-6026-01A-11D-1817-08 TCGA-46-6026-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 42a4a60c-257e-4bf6-a9ba-6f162dbca94a ca8e5a2b-459e-46c9-9818-cc8a71465b1f g.chr7:21584665G>A uc003svc.2 + 2 424 c.393G>A c.(391-393)AAG>AAA p.K131K NM_003777 NP_003768 Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 131 Stem (By similarity). microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1) 15 TTATTTCCAAGAAGATTACTG 0.343 Kartagener_syndrome 10 5 --- --- --- --- PASS FAM126A 84668 broad.mit.edu 37 7 23018024 23018024 + Missense_Mutation SNP C A A TCGA-46-6026-01A-11D-1817-08 TCGA-46-6026-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 42a4a60c-257e-4bf6-a9ba-6f162dbca94a ca8e5a2b-459e-46c9-9818-cc8a71465b1f g.chr7:23018024C>A uc003svm.3 - 4 452 c.197G>T c.(196-198)AGT>ATT p.S66I FAM126A_uc003svn.3_5'UTR|FAM126A_uc011jyr.1_Missense_Mutation_p.S32I NM_032581 NP_115970 Q9BYI3 HYCCI_HUMAN family with sequence similarity 126, member A 66 cytoplasm|membrane signal transducer activity central_nervous_system(1) 1 CTCCTCTCCACTGCGATAGAA 0.423 26 12 --- --- --- --- PASS ELMO1 9844 broad.mit.edu 37 7 37264527 37264527 + Missense_Mutation SNP C A A TCGA-46-6026-01A-11D-1817-08 TCGA-46-6026-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 42a4a60c-257e-4bf6-a9ba-6f162dbca94a ca8e5a2b-459e-46c9-9818-cc8a71465b1f g.chr7:37264527C>A uc003tfk.1 - 9 965 c.658G>T c.(658-660)GCG>TCG p.A220S ELMO1_uc011kbc.1_Missense_Mutation_p.A124S|ELMO1_uc010kxg.1_Missense_Mutation_p.A220S NM_014800 NP_055615 Q92556 ELMO1_HUMAN engulfment and cell motility 1 isoform 1 220 actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction cytoskeleton|cytosol|plasma membrane SH3 domain binding ovary(3)|skin(2)|upper_aerodigestive_tract(1) 6 ATCTCCTGCGCCACTTTCTGG 0.527 61 22 --- --- --- --- PASS RALA 5898 broad.mit.edu 37 7 39729980 39729980 + Splice_Site SNP G A A TCGA-46-6026-01A-11D-1817-08 TCGA-46-6026-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 42a4a60c-257e-4bf6-a9ba-6f162dbca94a ca8e5a2b-459e-46c9-9818-cc8a71465b1f g.chr7:39729980G>A uc003thd.2 + 3 415 c.115_splice c.e3-1 p.F39_splice NM_005402 NP_005393 P11233 RALA_HUMAN ras related v-ral simian leukemia viral oncogene actin cytoskeleton reorganization|cell cycle|chemotaxis|cytokinesis|exocytosis|interspecies interaction between organisms|membrane raft localization|nerve growth factor receptor signaling pathway|positive regulation of filopodium assembly|Ras protein signal transduction|regulation of exocytosis cell surface|cleavage furrow|cytosol|midbody|plasma membrane Edg-2 lysophosphatidic acid receptor binding|GTP binding|GTPase activity lung(1)|skin(1) 2 ATCTTTTCTAGTTTGTGGAGG 0.299 52 51 --- --- --- --- PASS GCK 2645 broad.mit.edu 37 7 44228546 44228546 + Missense_Mutation SNP C A A TCGA-46-6026-01A-11D-1817-08 TCGA-46-6026-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 42a4a60c-257e-4bf6-a9ba-6f162dbca94a ca8e5a2b-459e-46c9-9818-cc8a71465b1f g.chr7:44228546C>A uc003tkl.2 - 1 477 c.7G>T c.(7-9)GAC>TAC p.D3Y NM_000162 NP_000153 P35557 HXK4_HUMAN glucokinase isoform 1 3 cellular response to insulin stimulus|cellular response to leptin stimulus|detection of glucose|endocrine pancreas development|glucose homeostasis|glucose transport|glycolysis|negative regulation of gluconeogenesis|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|regulation of glucose transport|regulation of glycolysis|transmembrane transport cytosol|nucleoplasm ATP binding|glucokinase activity|glucose binding|protein binding skin(3)|lung(1) 4 GCTCTGTCGTCCAGCATCTGC 0.597 9 27 --- --- --- --- PASS ZPBP 11055 broad.mit.edu 37 7 50121417 50121417 + Missense_Mutation SNP A T T TCGA-46-6026-01A-11D-1817-08 TCGA-46-6026-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 42a4a60c-257e-4bf6-a9ba-6f162dbca94a ca8e5a2b-459e-46c9-9818-cc8a71465b1f g.chr7:50121417A>T uc003tou.2 - 3 357 c.287T>A c.(286-288)ATA>AAA p.I96K ZPBP_uc011kci.1_Missense_Mutation_p.I22K|ZPBP_uc010kyw.2_Missense_Mutation_p.I96K NM_007009 NP_008940 Q9BS86 ZPBP1_HUMAN zona pellucida binding protein isoform 1 96 binding of sperm to zona pellucida extracellular region 0 Glioma(55;0.08)|all_neural(89;0.245) TGATGGGTCTATCAGTTCAGC 0.348 28 17 --- --- --- --- PASS CLIP2 7461 broad.mit.edu 37 7 73774519 73774519 + Silent SNP C T T TCGA-46-6026-01A-11D-1817-08 TCGA-46-6026-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 42a4a60c-257e-4bf6-a9ba-6f162dbca94a ca8e5a2b-459e-46c9-9818-cc8a71465b1f g.chr7:73774519C>T uc003uam.2 + 7 1557 c.1230C>T c.(1228-1230)GCC>GCT p.A410A CLIP2_uc003uan.2_Silent_p.A410A NM_003388 NP_003379 Q9UDT6 CLIP2_HUMAN CAP-GLY domain containing linker protein 2 410 Potential. microtubule associated complex skin(3) 3 TTGCAGAAGCCGAGGAGAAGC 0.637 7 11 --- --- --- --- PASS GTF2I 2969 broad.mit.edu 37 7 74103545 74103545 + Missense_Mutation SNP C T T TCGA-46-6026-01A-11D-1817-08 TCGA-46-6026-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 42a4a60c-257e-4bf6-a9ba-6f162dbca94a ca8e5a2b-459e-46c9-9818-cc8a71465b1f g.chr7:74103545C>T uc003uau.2 + 2 453 c.83C>T c.(82-84)TCA>TTA p.S28L GTF2I_uc003uat.2_Missense_Mutation_p.S28L|GTF2I_uc003uav.2_Missense_Mutation_p.S28L|GTF2I_uc003uaw.2_Missense_Mutation_p.S28L|GTF2I_uc003uay.2_Missense_Mutation_p.S28L|GTF2I_uc003uax.2_Missense_Mutation_p.S28L NM_032999 NP_127492 P78347 GTF2I_HUMAN general transcription factor IIi isoform 1 28 negative regulation of angiogenesis|signal transduction|transcription initiation from RNA polymerase II promoter cytoplasm|nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity 0 TTCCTCATGTCAGCTCTCGAG 0.498 10 45 --- --- --- --- PASS CACNA2D1 781 broad.mit.edu 37 7 81643795 81643795 + Missense_Mutation SNP C A A TCGA-46-6026-01A-11D-1817-08 TCGA-46-6026-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 42a4a60c-257e-4bf6-a9ba-6f162dbca94a ca8e5a2b-459e-46c9-9818-cc8a71465b1f g.chr7:81643795C>A uc003uhr.1 - 13 1400 c.1144G>T c.(1144-1146)GTA>TTA p.V382L uc003uhs.1_Intron NM_000722 NP_000713 P54289 CA2D1_HUMAN calcium channel, voltage-dependent, alpha 382 Extracellular (Potential).|VWFA. voltage-gated calcium channel complex metal ion binding ovary(5)|pancreas(1) 6 Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115) AATACACGTACCTGGATGAAT 0.333 10 33 --- --- --- --- PASS SLC12A9 56996 broad.mit.edu 37 7 100453423 100453423 + Missense_Mutation SNP G A A TCGA-46-6026-01A-11D-1817-08 TCGA-46-6026-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 42a4a60c-257e-4bf6-a9ba-6f162dbca94a ca8e5a2b-459e-46c9-9818-cc8a71465b1f g.chr7:100453423G>A uc003uwp.2 + 4 554 c.412G>A c.(412-414)GGG>AGG p.G138R SLC12A9_uc003uwo.1_Intron|SLC12A9_uc003uwq.2_Intron|SLC12A9_uc011kki.1_Intron|SLC12A9_uc003uwr.2_5'UTR|SLC12A9_uc003uws.2_5'UTR|SLC12A9_uc003uwt.2_5'Flank|SLC12A9_uc003uwv.2_5'Flank NM_020246 NP_064631 Q9BXP2 S12A9_HUMAN solute carrier family 12 (potassium/chloride 138 Helical; (Potential). integral to membrane|plasma membrane cation:chloride symporter activity 0 Lung NSC(181;0.041)|all_lung(186;0.0581) CTCCCTCCTGGGGCTGGTGGA 0.617 52 46 --- --- --- --- PASS VGF 7425 broad.mit.edu 37 7 100807347 100807347 + Missense_Mutation SNP C T T TCGA-46-6026-01A-11D-1817-08 TCGA-46-6026-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 42a4a60c-257e-4bf6-a9ba-6f162dbca94a ca8e5a2b-459e-46c9-9818-cc8a71465b1f g.chr7:100807347C>T uc003uxx.3 - 2 996 c.778G>A c.(778-780)GAG>AAG p.E260K NM_003378 NP_003369 O15240 VGF_HUMAN VGF nerve growth factor inducible precursor 260 response to cAMP extracellular space|transport vesicle growth factor activity 0 Lung NSC(181;0.168)|all_lung(186;0.215) GCCAATGCCTCGCCTAGGTGT 0.662 10 42 --- --- --- --- PASS ING3 54556 broad.mit.edu 37 7 120608024 120608024 + Missense_Mutation SNP A G G TCGA-46-6026-01A-11D-1817-08 TCGA-46-6026-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 42a4a60c-257e-4bf6-a9ba-6f162dbca94a ca8e5a2b-459e-46c9-9818-cc8a71465b1f g.chr7:120608024A>G uc003vjn.2 + 8 727 c.593A>G c.(592-594)AAT>AGT p.N198S ING3_uc003vjo.2_5'UTR|ING3_uc003vjp.2_Missense_Mutation_p.N198S|ING3_uc011kns.1_Missense_Mutation_p.N183S NM_019071 NP_061944 Q9NXR8 ING3_HUMAN inhibitor of growth family, member 3 isoform 1 198 histone H2A acetylation|histone H4 acetylation|positive regulation of apoptosis|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent NuA4 histone acetyltransferase complex|Piccolo NuA4 histone acetyltransferase complex zinc ion binding ovary(1) 1 all_neural(327;0.117) TCTTCTAACAATGCCTACAAT 0.398 45 28 --- --- --- --- PASS PLXNA4 91584 broad.mit.edu 37 7 131883346 131883346 + Missense_Mutation SNP C A A TCGA-46-6026-01A-11D-1817-08 TCGA-46-6026-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 42a4a60c-257e-4bf6-a9ba-6f162dbca94a ca8e5a2b-459e-46c9-9818-cc8a71465b1f g.chr7:131883346C>A uc003vra.3 - 13 2865 c.2636G>T c.(2635-2637)CGA>CTA p.R879L NM_020911 NP_065962 Q9HCM2 PLXA4_HUMAN plexin A4 isoform 1 879 IPT/TIG 1.|Extracellular (Potential). integral to membrane|intracellular|plasma membrane ovary(1) 1 GTTCTCCCCTCGGATAGTGAC 0.552 3 64 --- --- --- --- PASS CHRM2 1129 broad.mit.edu 37 7 136700855 136700855 + Missense_Mutation SNP C A A TCGA-46-6026-01A-11D-1817-08 TCGA-46-6026-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 42a4a60c-257e-4bf6-a9ba-6f162dbca94a ca8e5a2b-459e-46c9-9818-cc8a71465b1f g.chr7:136700855C>A uc003vtf.1 + 4 1866 c.1243C>A c.(1243-1245)CCT>ACT p.P415T CHRM2_uc003vtg.1_Missense_Mutation_p.P415T|CHRM2_uc003vtj.1_Missense_Mutation_p.P415T|CHRM2_uc003vtk.1_Missense_Mutation_p.P415T|CHRM2_uc003vtl.1_Missense_Mutation_p.P415T|CHRM2_uc003vtm.1_Missense_Mutation_p.P415T|CHRM2_uc003vti.1_Missense_Mutation_p.P415T|CHRM2_uc003vto.1_Missense_Mutation_p.P415T|CHRM2_uc003vtn.1_Missense_Mutation_p.P415T|uc003vtp.1_Intron NM_001006630 NP_001006631 P08172 ACM2_HUMAN cholinergic receptor, muscarinic 2 415 Extracellular (By similarity). activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus cell junction|integral to plasma membrane|postsynaptic membrane muscarinic acetylcholine receptor activity|protein binding ovary(4)|central_nervous_system(1) 5 Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium(DB01334)|Doxacurium chloride(DB01135)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508) CTTTTGTGCACCTTGCATCCC 0.458 86 56 --- --- --- --- PASS EPHA1 2041 broad.mit.edu 37 7 143095862 143095862 + Missense_Mutation SNP C T T rs145891509 TCGA-46-6026-01A-11D-1817-08 TCGA-46-6026-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 42a4a60c-257e-4bf6-a9ba-6f162dbca94a ca8e5a2b-459e-46c9-9818-cc8a71465b1f g.chr7:143095862C>T uc003wcz.2 - 6 1255 c.1168G>A c.(1168-1170)GTG>ATG p.V390M NM_005232 NP_005223 P21709 EPHA1_HUMAN ephrin receptor EphA1 precursor 390 Extracellular (Potential).|Fibronectin type-III 1. integral to plasma membrane ATP binding|ephrin receptor activity ovary(3)|lung(1)|breast(1) 5 Melanoma(164;0.205) Myeloproliferative disorder(862;0.0255) GAGAAGTGCACGCCCACCCCA 0.612 19 22 --- --- --- --- PASS OR2A25 392138 broad.mit.edu 37 7 143772025 143772025 + Missense_Mutation SNP C G G TCGA-46-6026-01A-11D-1817-08 TCGA-46-6026-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 42a4a60c-257e-4bf6-a9ba-6f162dbca94a ca8e5a2b-459e-46c9-9818-cc8a71465b1f g.chr7:143772025C>G uc011ktx.1 + 1 713 c.713C>G c.(712-714)TCC>TGC p.S238C NM_001004488 NP_001004488 A4D2G3 O2A25_HUMAN olfactory receptor, family 2, subfamily A, 238 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 Melanoma(164;0.0783) AAAGCCTTCTCCATCTGCTCC 0.483 39 89 --- --- --- --- PASS KRBA1 84626 broad.mit.edu 37 7 149418023 149418023 + Missense_Mutation SNP C A A TCGA-46-6026-01A-11D-1817-08 TCGA-46-6026-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 42a4a60c-257e-4bf6-a9ba-6f162dbca94a ca8e5a2b-459e-46c9-9818-cc8a71465b1f g.chr7:149418023C>A uc003wfz.2 + 4 651 c.252C>A c.(250-252)GAC>GAA p.D84E KRBA1_uc010lpj.2_RNA|KRBA1_uc003wga.2_RNA|KRBA1_uc003wgb.2_5'Flank NM_032534 NP_115923 A5PL33 KRBA1_HUMAN KRAB A domain containing 1 84 ovary(1)|central_nervous_system(1) 2 Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) GCGCTATGGACAGCCCCGAGA 0.647 22 16 --- --- --- --- PASS DPP6 1804 broad.mit.edu 37 7 154587594 154587594 + Splice_Site SNP G T T TCGA-46-6026-01A-11D-1817-08 TCGA-46-6026-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 42a4a60c-257e-4bf6-a9ba-6f162dbca94a ca8e5a2b-459e-46c9-9818-cc8a71465b1f g.chr7:154587594G>T uc003wlk.2 + 12 1428 c.1299_splice c.e12+1 p.Q433_splice DPP6_uc003wli.2_Splice_Site_p.Q369_splice|DPP6_uc003wlm.2_Splice_Site_p.Q371_splice|DPP6_uc011kvq.1_Splice_Site_p.Q326_splice NM_130797 NP_570629 P42658 DPP6_HUMAN dipeptidyl-peptidase 6 isoform 1 cell death|proteolysis integral to membrane dipeptidyl-peptidase activity|serine-type peptidase activity pancreas(3)|breast(1) 4 all_neural(206;0.181) all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204) OV - Ovarian serous cystadenocarcinoma(82;0.0562) CCACAGACAGGTAACTACTGC 0.463 6 3 --- --- --- --- PASS ERI1 90459 broad.mit.edu 37 8 8873831 8873831 + Splice_Site SNP G T T TCGA-46-6026-01A-11D-1817-08 TCGA-46-6026-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 42a4a60c-257e-4bf6-a9ba-6f162dbca94a ca8e5a2b-459e-46c9-9818-cc8a71465b1f g.chr8:8873831G>T uc011kwu.1 + 4 759 c.499_splice c.e4-1 p.E167_splice ERI1_uc003wsk.2_Splice_Site_p.E167_splice NM_153332 NP_699163 Q8IV48 ERI1_HUMAN three prime histone mRNA exonuclease 1 gene silencing by RNA|rRNA 3'-end processing cytoplasm|histone pre-mRNA 3'end processing complex|nucleolus 3'-5' exonuclease activity|histone pre-mRNA stem-loop binding|metal ion binding|ribosome binding|rRNA binding 0 Adenosine monophosphate(DB00131) TTCCCTTGCAGGAAGACACGT 0.373 78 96 --- --- --- --- PASS RP1L1 94137 broad.mit.edu 37 8 10480563 10480563 + Missense_Mutation SNP C T T TCGA-46-6026-01A-11D-1817-08 TCGA-46-6026-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 42a4a60c-257e-4bf6-a9ba-6f162dbca94a ca8e5a2b-459e-46c9-9818-cc8a71465b1f g.chr8:10480563C>T uc003wtc.2 - 2 378 c.149G>A c.(148-150)CGC>CAC p.R50H NM_178857 NP_849188 Q8IWN7 RP1L1_HUMAN retinitis pigmentosa 1-like 1 50 intracellular signal transduction p.R50H(1) ovary(4)|breast(3)|central_nervous_system(1) 8 COAD - Colon adenocarcinoma(149;0.0811) AACGGCCAGGCGGACCCCAGC 0.637 31 42 --- --- --- --- PASS BLK 640 broad.mit.edu 37 8 11414226 11414226 + Missense_Mutation SNP C G G TCGA-46-6026-01A-11D-1817-08 TCGA-46-6026-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 42a4a60c-257e-4bf6-a9ba-6f162dbca94a ca8e5a2b-459e-46c9-9818-cc8a71465b1f g.chr8:11414226C>G uc003wty.2 + 9 1413 c.832C>G c.(832-834)CCA>GCA p.P278A BLK_uc003wtz.2_Missense_Mutation_p.P207A NM_001715 NP_001706 P51451 BLK_HUMAN B lymphoid tyrosine kinase 278 Protein kinase. intracellular protein kinase cascade|positive regulation of insulin secretion ATP binding|non-membrane spanning protein tyrosine kinase activity large_intestine(1)|stomach(1)|ovary(1) 3 STAD - Stomach adenocarcinoma(15;0.00391) COAD - Colon adenocarcinoma(149;0.207) AACCATGTCTCCAGAAGCCTT 0.537 40 50 --- --- --- --- PASS POLR3D 661 broad.mit.edu 37 8 22107639 22107639 + Nonsense_Mutation SNP C T T TCGA-46-6026-01A-11D-1817-08 TCGA-46-6026-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 42a4a60c-257e-4bf6-a9ba-6f162dbca94a ca8e5a2b-459e-46c9-9818-cc8a71465b1f g.chr8:22107639C>T uc003xbl.2 + 8 1056 c.973C>T c.(973-975)CAG>TAG p.Q325* POLR3D_uc003xbm.2_Nonsense_Mutation_p.Q325*|POLR3D_uc011kze.1_RNA NM_001722 NP_001713 P05423 RPC4_HUMAN polymerase (RNA) III (DNA directed) polypeptide 325 innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter DNA-directed RNA polymerase III complex DNA binding|DNA-directed RNA polymerase activity 0 Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061) GACAGAGGGTCAGGTTGGCAA 0.562 36 42 --- --- --- --- PASS ST18 9705 broad.mit.edu 37 8 53092850 53092850 + Missense_Mutation SNP C A A TCGA-46-6026-01A-11D-1817-08 TCGA-46-6026-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 42a4a60c-257e-4bf6-a9ba-6f162dbca94a ca8e5a2b-459e-46c9-9818-cc8a71465b1f g.chr8:53092850C>A uc003xqz.2 - 4 265 c.109G>T c.(109-111)GCA>TCA p.A37S ST18_uc011ldq.1_5'UTR|ST18_uc011ldr.1_Missense_Mutation_p.A2S|ST18_uc011lds.1_5'UTR|ST18_uc003xra.2_Missense_Mutation_p.A37S|ST18_uc003xrb.2_Missense_Mutation_p.A37S|ST18_uc010lyb.2_RNA NM_014682 NP_055497 O60284 ST18_HUMAN suppression of tumorigenicity 18 37 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(4)|skin(1) 5 Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229) CTCTTCTTTGCCATGGAGCAA 0.418 80 109 --- --- --- --- PASS CHD7 55636 broad.mit.edu 37 8 61655236 61655236 + Silent SNP G A A TCGA-46-6026-01A-11D-1817-08 TCGA-46-6026-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 42a4a60c-257e-4bf6-a9ba-6f162dbca94a ca8e5a2b-459e-46c9-9818-cc8a71465b1f g.chr8:61655236G>A uc003xue.2 + 2 1722 c.1245G>A c.(1243-1245)CCG>CCA p.P415P NM_017780 NP_060250 Q9P2D1 CHD7_HUMAN chromodomain helicase DNA binding protein 7 415 Pro-rich. central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent nucleus ATP binding|chromatin binding|DNA binding|helicase activity ovary(4)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|pancreas(1) 9 all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477) BRCA - Breast invasive adenocarcinoma(89;0.143) AAGTCAGGCCGGGAAGTGCTG 0.547 19 105 --- --- --- --- PASS ARFGEF1 10565 broad.mit.edu 37 8 68178322 68178322 + Missense_Mutation SNP G A A TCGA-46-6026-01A-11D-1817-08 TCGA-46-6026-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 42a4a60c-257e-4bf6-a9ba-6f162dbca94a ca8e5a2b-459e-46c9-9818-cc8a71465b1f g.chr8:68178322G>A uc003xxo.1 - 14 2432 c.2042C>T c.(2041-2043)ACA>ATA p.T681I ARFGEF1_uc003xxl.1_Missense_Mutation_p.T135I NM_006421 NP_006412 Q9Y6D6 BIG1_HUMAN brefeldin A-inhibited guanine 681 exocytosis|regulation of ARF protein signal transduction cytoplasm ARF guanyl-nucleotide exchange factor activity|myosin binding ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|lung(1)|kidney(1) 8 Breast(64;0.214) Lung NSC(129;0.0908)|all_lung(136;0.152) Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206) AGACATCTGTGTACTGTAGCT 0.378 32 50 --- --- --- --- PASS CDH17 1015 broad.mit.edu 37 8 95189937 95189937 + Missense_Mutation SNP G C C TCGA-46-6026-01A-11D-1817-08 TCGA-46-6026-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 42a4a60c-257e-4bf6-a9ba-6f162dbca94a ca8e5a2b-459e-46c9-9818-cc8a71465b1f g.chr8:95189937G>C uc003ygh.2 - 4 288 c.163C>G c.(163-165)CCT>GCT p.P55A CDH17_uc011lgo.1_Missense_Mutation_p.P55A|CDH17_uc011lgp.1_Missense_Mutation_p.P55A NM_004063 NP_004054 Q12864 CAD17_HUMAN cadherin 17 precursor 55 Extracellular (Potential).|Cadherin 1. integral to membrane calcium ion binding ovary(5)|skin(1) 6 Breast(36;4.65e-06) BRCA - Breast invasive adenocarcinoma(8;0.00691) ACAGCAGGAGGATTGGCCTTA 0.393 29 31 --- --- --- --- PASS ENPP2 5168 broad.mit.edu 37 8 120633675 120633675 + Missense_Mutation SNP G C C TCGA-46-6026-01A-11D-1817-08 TCGA-46-6026-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 42a4a60c-257e-4bf6-a9ba-6f162dbca94a ca8e5a2b-459e-46c9-9818-cc8a71465b1f g.chr8:120633675G>C uc003yot.1 - 4 463 c.377C>G c.(376-378)GCC>GGC p.A126G ENPP2_uc003yos.1_Missense_Mutation_p.A126G|ENPP2_uc010mdd.1_Missense_Mutation_p.A126G NM_001040092 NP_001035181 Q13822 ENPP2_HUMAN autotaxin isoform 2 preproprotein 126 SMB 2. cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration extracellular space|integral to plasma membrane alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|large_intestine(1)|kidney(1) 7 Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161) STAD - Stomach adenocarcinoma(47;0.00185) GTCTCCCCTGGCCAAGCAGTC 0.468 36 51 --- --- --- --- PASS NDUFB9 4715 broad.mit.edu 37 8 125562116 125562116 + Missense_Mutation SNP C T T TCGA-46-6026-01A-11D-1817-08 TCGA-46-6026-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 42a4a60c-257e-4bf6-a9ba-6f162dbca94a ca8e5a2b-459e-46c9-9818-cc8a71465b1f g.chr8:125562116C>T uc003yrg.3 + 4 608 c.523C>T c.(523-525)CGG>TGG p.R175W NDUFB9_uc011lim.1_Intron NM_005005 NP_004996 Q9Y6M9 NDUB9_HUMAN NADH dehydrogenase (ubiquinone) 1 beta 175 mitochondrial electron transport, NADH to ubiquinone|sensory perception of sound|transport mitochondrial respiratory chain complex I NADH dehydrogenase (ubiquinone) activity ovary(1)|skin(1) 2 Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108) STAD - Stomach adenocarcinoma(47;0.00288) NADH(DB00157) GACCAGACCCCGGGAGCGGCC 0.488 28 35 --- --- --- --- PASS CPSF1 29894 broad.mit.edu 37 8 145619352 145619352 + Missense_Mutation SNP T C C TCGA-46-6026-01A-11D-1817-08 TCGA-46-6026-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 42a4a60c-257e-4bf6-a9ba-6f162dbca94a ca8e5a2b-459e-46c9-9818-cc8a71465b1f g.chr8:145619352T>C uc003zcj.2 - 34 3910 c.3835A>G c.(3835-3837)ATG>GTG p.M1279V NM_013291 NP_037423 Q10570 CPSF1_HUMAN cleavage and polyadenylation specific factor 1, 1279 mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription mRNA cleavage and polyadenylation specificity factor complex mRNA 3'-UTR binding|protein binding skin(1) 1 all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055) ATGTACACCATGAGGTTGCGG 0.677 18 23 --- --- --- --- PASS LRRC24 441381 broad.mit.edu 37 8 145748500 145748500 + Missense_Mutation SNP C G G TCGA-46-6026-01A-11D-1817-08 TCGA-46-6026-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 42a4a60c-257e-4bf6-a9ba-6f162dbca94a ca8e5a2b-459e-46c9-9818-cc8a71465b1f g.chr8:145748500C>G uc003zdm.2 - 5 1033 c.901G>C c.(901-903)GAG>CAG p.E301Q LRRC24_uc003zdn.2_Missense_Mutation_p.E298Q|LRRC14_uc003zdk.1_3'UTR|LRRC14_uc003zdl.1_3'UTR|LRRC14_uc003zdo.2_RNA NM_001024678 NP_001019849 Q50LG9 LRC24_HUMAN leucine rich repeat containing 24 precursor 301 Ig-like C2-type. integral to membrane 0 all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055) GGCCGGCCCTCGCGAGGCTGG 0.692 9 16 --- --- --- --- PASS KIAA1797 54914 broad.mit.edu 37 9 20912887 20912887 + Missense_Mutation SNP T C C TCGA-46-6026-01A-11D-1817-08 TCGA-46-6026-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 42a4a60c-257e-4bf6-a9ba-6f162dbca94a ca8e5a2b-459e-46c9-9818-cc8a71465b1f g.chr9:20912887T>C uc003zog.1 + 25 3104 c.2741T>C c.(2740-2742)TTG>TCG p.L914S KIAA1797_uc003zoh.1_Missense_Mutation_p.L350S NM_017794 NP_060264 Q5VW36 K1797_HUMAN hypothetical protein LOC54914 914 integral to membrane binding ovary(8)|breast(1)|kidney(1) 10 GBM - Glioblastoma multiforme(3;2.1e-125)|Lung(42;2.76e-14)|LUSC - Lung squamous cell carcinoma(42;1.99e-11) GAGCTGGAGTTGCAGTTAAAA 0.418 30 10 --- --- --- --- PASS HNRNPK 3190 broad.mit.edu 37 9 86591925 86591925 + Missense_Mutation SNP C G G TCGA-46-6026-01A-11D-1817-08 TCGA-46-6026-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 42a4a60c-257e-4bf6-a9ba-6f162dbca94a ca8e5a2b-459e-46c9-9818-cc8a71465b1f g.chr9:86591925C>G uc004ang.3 - 5 422 c.198G>C c.(196-198)AAG>AAC p.K66N HNRNPK_uc011lsw.1_5'Flank|HNRNPK_uc004and.3_5'Flank|HNRNPK_uc004ank.3_Missense_Mutation_p.K66N|HNRNPK_uc004anf.3_Missense_Mutation_p.K66N|HNRNPK_uc004anh.3_Missense_Mutation_p.K66N|HNRNPK_uc011lsx.1_Missense_Mutation_p.K66N|HNRNPK_uc004ani.3_Missense_Mutation_p.K66N|HNRNPK_uc004anj.3_Missense_Mutation_p.K66N|HNRNPK_uc004ann.3_Missense_Mutation_p.K66N|HNRNPK_uc004anl.3_Missense_Mutation_p.K66N|HNRNPK_uc004anm.3_Missense_Mutation_p.K66N NM_031262 NP_112552 P61978 HNRPK_HUMAN heterogeneous nuclear ribonucleoprotein K 66 1-1.|2 X 22 AA approximate repeats.|5 X 4 AA repeats of G-X-G-G.|KH 1.|Necessary for interaction with DDX1.|Interaction with ASFV p30. interspecies interaction between organisms|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of receptor-mediated endocytosis|regulation of lipid transport by positive regulation of transcription from an RNA polymerase II promoter|regulation of low-density lipoprotein particle clearance|signal transduction catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nuclear chromatin|nucleoplasm protein binding|RNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|single-stranded DNA binding skin(1) 1 TACGGAGAGCCTTAATATTCT 0.343 21 5 --- --- --- --- PASS HNRNPK 3190 broad.mit.edu 37 9 86591934 86591934 + Silent SNP C T T TCGA-46-6026-01A-11D-1817-08 TCGA-46-6026-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 42a4a60c-257e-4bf6-a9ba-6f162dbca94a ca8e5a2b-459e-46c9-9818-cc8a71465b1f g.chr9:86591934C>T uc004ang.3 - 5 413 c.189G>A c.(187-189)AAG>AAA p.K63K HNRNPK_uc011lsw.1_5'Flank|HNRNPK_uc004and.3_5'Flank|HNRNPK_uc004ank.3_Silent_p.K63K|HNRNPK_uc004anf.3_Silent_p.K63K|HNRNPK_uc004anh.3_Silent_p.K63K|HNRNPK_uc011lsx.1_Silent_p.K63K|HNRNPK_uc004ani.3_Silent_p.K63K|HNRNPK_uc004anj.3_Silent_p.K63K|HNRNPK_uc004ann.3_Silent_p.K63K|HNRNPK_uc004anl.3_Silent_p.K63K|HNRNPK_uc004anm.3_Silent_p.K63K NM_031262 NP_112552 P61978 HNRPK_HUMAN heterogeneous nuclear ribonucleoprotein K 63 1-1.|2 X 22 AA approximate repeats.|5 X 4 AA repeats of G-X-G-G.|KH 1.|Necessary for interaction with DDX1.|Interaction with ASFV p30. interspecies interaction between organisms|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of receptor-mediated endocytosis|regulation of lipid transport by positive regulation of transcription from an RNA polymerase II promoter|regulation of low-density lipoprotein particle clearance|signal transduction catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nuclear chromatin|nucleoplasm protein binding|RNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|single-stranded DNA binding skin(1) 1 CCTTAATATTCTTGCCTCCTT 0.353 20 6 --- --- --- --- PASS CEP110 11064 broad.mit.edu 37 9 123908435 123908435 + Silent SNP A T T TCGA-46-6026-01A-11D-1817-08 TCGA-46-6026-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 42a4a60c-257e-4bf6-a9ba-6f162dbca94a ca8e5a2b-459e-46c9-9818-cc8a71465b1f g.chr9:123908435A>T uc004bkx.1 + 21 3391 c.3360A>T c.(3358-3360)CGA>CGT p.R1120R CEP110_uc004bky.1_Silent_p.R724R|CEP110_uc004bla.1_Silent_p.R568R|CEP110_uc010mvo.1_5'UTR NM_007018 NP_008949 Q7Z7A1 CNTRL_HUMAN centrosomal protein 110kDa 1120 cell division|G2/M transition of mitotic cell cycle centrosome|cytosol protein binding 0 CTGAACTTCGACGTGAAGTTT 0.358 36 2 --- --- --- --- PASS ZNF79 7633 broad.mit.edu 37 9 130206596 130206596 + Missense_Mutation SNP C T T TCGA-46-6026-01A-11D-1817-08 TCGA-46-6026-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 42a4a60c-257e-4bf6-a9ba-6f162dbca94a ca8e5a2b-459e-46c9-9818-cc8a71465b1f g.chr9:130206596C>T uc004bqw.3 + 5 1031 c.617C>T c.(616-618)TCT>TTT p.S206F ZNF79_uc011maf.1_Missense_Mutation_p.S182F|ZNF79_uc011mag.1_Missense_Mutation_p.S182F NM_007135 NP_009066 Q15937 ZNF79_HUMAN zinc finger protein 79 206 C2H2-type 1. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1) 1 AGTTACTGTTCTTCCCTTTCT 0.483 26 37 --- --- --- --- PASS MSMB 4477 broad.mit.edu 37 10 51562373 51562373 + Silent SNP C A A TCGA-46-6026-01A-11D-1817-08 TCGA-46-6026-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 42a4a60c-257e-4bf6-a9ba-6f162dbca94a ca8e5a2b-459e-46c9-9818-cc8a71465b1f g.chr10:51562373C>A uc001jiq.2 + 4 350 c.318C>A c.(316-318)ACC>ACA p.T106T PARG_uc001jih.2_Intron|uc010qha.1_Intron|uc001jin.2_Intron|uc010qhb.1_Intron|uc010qhc.1_Intron|MSMB_uc001jir.2_Missense_Mutation_p.P71H|NCOA4_uc009xon.2_5'Flank|NCOA4_uc010qhd.1_5'Flank|NCOA4_uc001jis.3_5'Flank|NCOA4_uc010qhe.1_5'Flank|NCOA4_uc010qhf.1_5'Flank NM_002443 NP_002434 P08118 MSMB_HUMAN beta-microseminoprotein isoform a precursor 106 extracellular space|nucleus ovary(2) 2 CAAAAAAGACCTGTTCTGTCA 0.458 Hereditary_Prostate_Cancer 66 77 --- --- --- --- PASS LRRTM3 347731 broad.mit.edu 37 10 68686704 68686704 + Silent SNP C T T TCGA-46-6026-01A-11D-1817-08 TCGA-46-6026-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 42a4a60c-257e-4bf6-a9ba-6f162dbca94a ca8e5a2b-459e-46c9-9818-cc8a71465b1f g.chr10:68686704C>T uc001jmz.1 + 2 580 c.30C>T c.(28-30)AGC>AGT p.S10S CTNNA3_uc009xpn.1_Intron|CTNNA3_uc001jmw.2_Intron|CTNNA3_uc001jmx.3_Intron|CTNNA3_uc009xpo.1_Intron|LRRTM3_uc001jmy.2_Silent_p.S10S NM_178011 NP_821079 Q86VH5 LRRT3_HUMAN leucine rich repeat transmembrane neuronal 3 10 integral to membrane upper_aerodigestive_tract(1)|ovary(1)|skin(1) 3 GGCTACTGAGCGGATCAGCTG 0.413 14 58 --- --- --- --- PASS PRF1 5551 broad.mit.edu 37 10 72358173 72358173 + Missense_Mutation SNP G T T rs28933376 TCGA-46-6026-01A-11D-1817-08 TCGA-46-6026-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 42a4a60c-257e-4bf6-a9ba-6f162dbca94a ca8e5a2b-459e-46c9-9818-cc8a71465b1f g.chr10:72358173G>T uc009xqg.2 - 3 1465 c.1304C>A c.(1303-1305)ACG>AAG p.T435K PRF1_uc001jrf.3_Missense_Mutation_p.T435K NM_001083116 NP_001076585 P14222 PERF_HUMAN perforin 1 precursor 435 C2. apoptosis|cellular defense response|cytolysis|defense response to tumor cell|defense response to virus|immune response to tumor cell|protein homooligomerization cytolytic granule|endosome lumen|extracellular region|integral to membrane|plasma membrane calcium ion binding|protein binding|wide pore channel activity large_intestine(1)|ovary(1)|central_nervous_system(1) 3 ATAGGCATCCGTGGCAGTGAA 0.617 M various leukaemia|lymphoma Type 2 familial hemophagocytic lymphohistiocytosis Familial_Hemophagocytic_Lymphohistiocytosis 3 63 --- --- --- --- PASS DNMBP 23268 broad.mit.edu 37 10 101716838 101716838 + Silent SNP C A A TCGA-46-6026-01A-11D-1817-08 TCGA-46-6026-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 42a4a60c-257e-4bf6-a9ba-6f162dbca94a ca8e5a2b-459e-46c9-9818-cc8a71465b1f g.chr10:101716838C>A uc001kqj.2 - 4 485 c.393G>T c.(391-393)CGG>CGT p.R131R NCRNA00093_uc001kqk.1_RNA NM_015221 NP_056036 Q6XZF7 DNMBP_HUMAN dynamin binding protein 131 intracellular signal transduction|regulation of Rho protein signal transduction cell junction|cytoskeleton|Golgi stack|synapse protein binding|Rho guanyl-nucleotide exchange factor activity ovary(5)|skin(1) 6 Colorectal(252;0.234) Epithelial(162;2.94e-10)|all cancers(201;3.15e-08) AGTGCCACTGCCGGCTCTGTG 0.622 17 20 --- --- --- --- PASS ELOVL3 83401 broad.mit.edu 37 10 103988611 103988611 + Missense_Mutation SNP C T T TCGA-46-6026-01A-11D-1817-08 TCGA-46-6026-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 42a4a60c-257e-4bf6-a9ba-6f162dbca94a ca8e5a2b-459e-46c9-9818-cc8a71465b1f g.chr10:103988611C>T uc001kut.2 + 4 578 c.415C>T c.(415-417)CGG>TGG p.R139W NM_152310 NP_689523 Q9HB03 ELOV3_HUMAN elongation of very long chain fatty acids like 139 fatty acid elongation, monounsaturated fatty acid|fatty acid elongation, polyunsaturated fatty acid|fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process endoplasmic reticulum membrane|integral to membrane fatty acid elongase activity|protein binding ovary(2) 2 Colorectal(252;0.207) Epithelial(162;4.47e-08)|all cancers(201;7.96e-07) CCTGCGTAAGCGGCCACTCAT 0.537 66 115 --- --- --- --- PASS PITX3 5309 broad.mit.edu 37 10 103990395 103990395 + Nonsense_Mutation SNP G T T TCGA-46-6026-01A-11D-1817-08 TCGA-46-6026-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 42a4a60c-257e-4bf6-a9ba-6f162dbca94a ca8e5a2b-459e-46c9-9818-cc8a71465b1f g.chr10:103990395G>T uc001kuu.1 - 4 939 c.785C>A c.(784-786)TCG>TAG p.S262* NM_005029 NP_005020 O75364 PITX3_HUMAN paired-like homeodomain 3 262 OAR. dopaminergic neuron differentiation|lens morphogenesis in camera-type eye|midbrain development|positive regulation of transcription, DNA-dependent nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 Colorectal(252;0.00957) Epithelial(162;4.97e-08)|all cancers(201;8.99e-07) GGCCAGGCTCGAGTTACACGG 0.562 3 17 --- --- --- --- PASS PITX3 5309 broad.mit.edu 37 10 103990840 103990840 + Missense_Mutation SNP G T T TCGA-46-6026-01A-11D-1817-08 TCGA-46-6026-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 42a4a60c-257e-4bf6-a9ba-6f162dbca94a ca8e5a2b-459e-46c9-9818-cc8a71465b1f g.chr10:103990840G>T uc001kuu.1 - 4 494 c.340C>A c.(340-342)CGC>AGC p.R114S NM_005029 NP_005020 O75364 PITX3_HUMAN paired-like homeodomain 3 114 Homeobox. dopaminergic neuron differentiation|lens morphogenesis in camera-type eye|midbrain development|positive regulation of transcription, DNA-dependent nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 Colorectal(252;0.00957) Epithelial(162;4.97e-08)|all cancers(201;8.99e-07) CATTTGGCGCGCCGGTTCTTG 0.731 3 15 --- --- --- --- PASS C10orf119 79892 broad.mit.edu 37 10 121618678 121618678 + Missense_Mutation SNP C T T TCGA-46-6026-01A-11D-1817-08 TCGA-46-6026-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 42a4a60c-257e-4bf6-a9ba-6f162dbca94a ca8e5a2b-459e-46c9-9818-cc8a71465b1f g.chr10:121618678C>T uc001ler.2 - 3 458 c.160G>A c.(160-162)GAA>AAA p.E54K C10orf119_uc001les.1_5'UTR NM_024834 NP_079110 Q9BTE3 MCMBP_HUMAN chromosome 10 open reading frame 119 54 cell division|DNA-dependent DNA replication|mitosis|S phase of mitotic cell cycle|sister chromatid cohesion nucleus chromatin binding 0 Lung NSC(174;0.109)|all_lung(145;0.142) all cancers(201;0.0044) AGGGGAACTTCGTTCAGTGAT 0.328 20 23 --- --- --- --- PASS OR51E2 81285 broad.mit.edu 37 11 4703724 4703724 + Missense_Mutation SNP G A A TCGA-46-6026-01A-11D-1817-08 TCGA-46-6026-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 42a4a60c-257e-4bf6-a9ba-6f162dbca94a ca8e5a2b-459e-46c9-9818-cc8a71465b1f g.chr11:4703724G>A uc001lzk.2 - 2 462 c.218C>T c.(217-219)TCC>TTC p.S73F NM_030774 NP_110401 Q9H255 O51E2_HUMAN olfactory receptor, family 51, subfamily E, 73 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity lung(3)|ovary(2) 5 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;3e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00476)|LUSC - Lung squamous cell carcinoma(625;0.2) GGTGGATGTGGATAAGGCCAG 0.507 54 39 --- --- --- --- PASS OR52A5 390054 broad.mit.edu 37 11 5153137 5153137 + Missense_Mutation SNP C T T TCGA-46-6026-01A-11D-1817-08 TCGA-46-6026-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 42a4a60c-257e-4bf6-a9ba-6f162dbca94a ca8e5a2b-459e-46c9-9818-cc8a71465b1f g.chr11:5153137C>T uc010qyx.1 - 1 736 c.736G>A c.(736-738)GCC>ACC p.A246T NM_001005160 NP_001005160 Q9H2C5 O52A5_HUMAN olfactory receptor, family 52, subfamily A, 246 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|lung(1)|central_nervous_system(1) 4 Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675) Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2) CAAATGTGGGCAATGCATGTA 0.398 40 40 --- --- --- --- PASS TRIM5 85363 broad.mit.edu 37 11 5701330 5701330 + Silent SNP C T T TCGA-46-6026-01A-11D-1817-08 TCGA-46-6026-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 42a4a60c-257e-4bf6-a9ba-6f162dbca94a ca8e5a2b-459e-46c9-9818-cc8a71465b1f g.chr11:5701330C>T uc001mbm.1 - 2 335 c.78G>A c.(76-78)CTG>CTA p.L26L TRIM5_uc001mbq.1_Silent_p.L26L|TRIM5_uc001mbl.1_RNA|TRIM5_uc001mbn.2_Silent_p.L26L|TRIM5_uc001mbo.2_Silent_p.L26L|TRIM5_uc001mbp.2_Silent_p.L26L NM_033034 NP_149023 Q9C035 TRIM5_HUMAN tripartite motif protein TRIM5 isoform alpha 26 RING-type. interspecies interaction between organisms|protein trimerization|response to virus cytoplasm|cytoplasmic mRNA processing body ligase activity|protein binding|protein homodimerization activity|zinc ion binding ovary(1) 1 Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)|Lung NSC(207;0.138)|all_lung(207;0.221) Epithelial(150;7.21e-09)|BRCA - Breast invasive adenocarcinoma(625;0.139) AGTCCAGGCTCAGGGGTTGTG 0.552 57 79 --- --- --- --- PASS ABCC8 6833 broad.mit.edu 37 11 17474672 17474672 + Silent SNP T C C TCGA-46-6026-01A-11D-1817-08 TCGA-46-6026-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 42a4a60c-257e-4bf6-a9ba-6f162dbca94a ca8e5a2b-459e-46c9-9818-cc8a71465b1f g.chr11:17474672T>C uc001mnc.2 - 7 1296 c.1170A>G c.(1168-1170)GCA>GCG p.A390A ABCC8_uc010rcy.1_Silent_p.A389A NM_000352 NP_000343 Q09428 ABCC8_HUMAN ATP-binding cassette, sub-family C, member 8 390 Cytoplasmic (By similarity).|ABC transmembrane type-1 1. carbohydrate metabolic process|energy reserve metabolic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity ovary(1) 1 READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1) Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912) GTACCTGTATTGCTCCTCTCA 0.393 21 105 --- --- --- --- PASS PDHX 8050 broad.mit.edu 37 11 34938280 34938280 + Silent SNP A G G TCGA-46-6026-01A-11D-1817-08 TCGA-46-6026-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 42a4a60c-257e-4bf6-a9ba-6f162dbca94a ca8e5a2b-459e-46c9-9818-cc8a71465b1f g.chr11:34938280A>G uc001mvt.2 + 1 604 c.78A>G c.(76-78)GTA>GTG p.V26V PDHX_uc010rep.1_Intron|PDHX_uc010req.1_Silent_p.V26V|APIP_uc010reo.1_5'Flank|APIP_uc001mvs.2_5'Flank NM_003477 NP_003468 O00330 ODPX_HUMAN pyruvate dehydrogenase complex, component X 26 pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate mitochondrial matrix acyltransferase activity kidney(1) 1 all_epithelial(35;0.115)|Lung NSC(22;0.218)|all_lung(20;0.242) all_hematologic(20;0.124) STAD - Stomach adenocarcinoma(6;0.00113) GCCGAAGCGTAGGGCTGGTGA 0.652 14 26 --- --- --- --- PASS OR4C15 81309 broad.mit.edu 37 11 55322751 55322751 + Missense_Mutation SNP G A A TCGA-46-6026-01A-11D-1817-08 TCGA-46-6026-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 42a4a60c-257e-4bf6-a9ba-6f162dbca94a ca8e5a2b-459e-46c9-9818-cc8a71465b1f g.chr11:55322751G>A uc010rig.1 + 1 969 c.969G>A c.(967-969)ATG>ATA p.M323I NM_001001920 NP_001001920 Q8NGM1 OR4CF_HUMAN olfactory receptor, family 4, subfamily C, 269 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 TTGACAAAATGGCGGCAATAT 0.383 HNSCC(20;0.049) 42 108 --- --- --- --- PASS OR4C16 219428 broad.mit.edu 37 11 55340262 55340262 + Missense_Mutation SNP T C C TCGA-46-6026-01A-11D-1817-08 TCGA-46-6026-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 42a4a60c-257e-4bf6-a9ba-6f162dbca94a ca8e5a2b-459e-46c9-9818-cc8a71465b1f g.chr11:55340262T>C uc010rih.1 + 1 659 c.659T>C c.(658-660)TTG>TCG p.L220S NM_001004701 NP_001004701 Q8NGL9 OR4CG_HUMAN olfactory receptor, family 4, subfamily C, 220 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 all_epithelial(135;0.0748) GTCATCTTCTTGCATTCTCTG 0.418 15 48 --- --- --- --- PASS OR4C16 219428 broad.mit.edu 37 11 55340263 55340263 + Silent SNP G A A TCGA-46-6026-01A-11D-1817-08 TCGA-46-6026-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 42a4a60c-257e-4bf6-a9ba-6f162dbca94a ca8e5a2b-459e-46c9-9818-cc8a71465b1f g.chr11:55340263G>A uc010rih.1 + 1 660 c.660G>A c.(658-660)TTG>TTA p.L220L NM_001004701 NP_001004701 Q8NGL9 OR4CG_HUMAN olfactory receptor, family 4, subfamily C, 220 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 all_epithelial(135;0.0748) TCATCTTCTTGCATTCTCTGA 0.418 15 48 --- --- --- --- PASS MRPL16 54948 broad.mit.edu 37 11 59574276 59574276 + Silent SNP G T T TCGA-46-6026-01A-11D-1817-08 TCGA-46-6026-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 42a4a60c-257e-4bf6-a9ba-6f162dbca94a ca8e5a2b-459e-46c9-9818-cc8a71465b1f g.chr11:59574276G>T uc001noh.2 - 4 514 c.300C>A c.(298-300)GGC>GGA p.G100G NM_017840 NP_060310 Q9NX20 RM16_HUMAN mitochondrial ribosomal protein L16 precursor 100 rRNA binding central_nervous_system(1) 1 TTTCAAAGTGGCCCCAATGCA 0.488 59 42 --- --- --- --- PASS MS4A1 931 broad.mit.edu 37 11 60235940 60235940 + Nonstop_Mutation SNP A T T TCGA-46-6026-01A-11D-1817-08 TCGA-46-6026-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 42a4a60c-257e-4bf6-a9ba-6f162dbca94a ca8e5a2b-459e-46c9-9818-cc8a71465b1f g.chr11:60235940A>T uc001npp.2 + 8 1309 c.893A>T c.(892-894)TAA>TTA p.*298L MS4A1_uc001npq.2_Nonstop_Mutation_p.*298L|MS4A1_uc009yna.2_Nonstop_Mutation_p.*298L|MS4A1_uc009ymz.2_Nonstop_Mutation_p.*285L|MS4A1_uc010rlc.1_Nonstop_Mutation_p.*131L NM_152866 NP_690605 P11836 CD20_HUMAN membrane-spanning 4-domains, subfamily A, member 298 B cell activation|immune response integral to plasma membrane ovary(3)|lung(2) 5 Ibritumomab(DB00078)|Rituximab(DB00073)|Tositumomab(DB00081) AGCTCTCCTTAAGTGATTTCT 0.393 6 20 --- --- --- --- PASS SNX32 254122 broad.mit.edu 37 11 65617738 65617738 + Missense_Mutation SNP G A A TCGA-46-6026-01A-11D-1817-08 TCGA-46-6026-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 42a4a60c-257e-4bf6-a9ba-6f162dbca94a ca8e5a2b-459e-46c9-9818-cc8a71465b1f g.chr11:65617738G>A uc001ofr.2 + 4 497 c.370G>A c.(370-372)GAA>AAA p.E124K SNX32_uc010rop.1_3'UTR NM_152760 NP_689973 Q86XE0 SNX32_HUMAN sorting nexin 6B 124 PX. cell communication|protein transport phosphatidylinositol binding 0 READ - Rectum adenocarcinoma(159;0.171) GCAGGAGCTGGAAGCGTGAGT 0.562 14 35 --- --- --- --- PASS RCE1 9986 broad.mit.edu 37 11 66611788 66611788 + Missense_Mutation SNP C T T TCGA-46-6026-01A-11D-1817-08 TCGA-46-6026-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 42a4a60c-257e-4bf6-a9ba-6f162dbca94a ca8e5a2b-459e-46c9-9818-cc8a71465b1f g.chr11:66611788C>T uc001ojk.1 + 4 448 c.404C>T c.(403-405)TCT>TTT p.S135F RCE1_uc001ojl.1_Missense_Mutation_p.S31F NM_005133 NP_005124 Q9Y256 FACE2_HUMAN prenyl protein peptidase RCE1 isoform 1 135 proteolysis endoplasmic reticulum membrane|integral to plasma membrane metalloendopeptidase activity ovary(1)|breast(1) 2 ATGCAGCTCTCTATGGATTGC 0.532 64 65 --- --- --- --- PASS GRM5 2915 broad.mit.edu 37 11 88300267 88300267 + Missense_Mutation SNP G T T TCGA-46-6026-01A-11D-1817-08 TCGA-46-6026-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 42a4a60c-257e-4bf6-a9ba-6f162dbca94a ca8e5a2b-459e-46c9-9818-cc8a71465b1f g.chr11:88300267G>T uc001pcq.2 - 7 2784 c.2584C>A c.(2584-2586)CTA>ATA p.L862I GRM5_uc009yvm.2_Missense_Mutation_p.L862I NM_001143831 NP_001137303 P41594 GRM5_HUMAN glutamate receptor, metabotropic 5 isoform a 862 Cytoplasmic (Potential). activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity central_nervous_system(4)|ovary(2)|lung(2)|breast(1) 9 Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834) Acamprosate(DB00659) AGGTTGACTAGGCTGCTGGAT 0.572 19 55 --- --- --- --- PASS CEP57 9702 broad.mit.edu 37 11 95546720 95546720 + Silent SNP C T T TCGA-46-6026-01A-11D-1817-08 TCGA-46-6026-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 42a4a60c-257e-4bf6-a9ba-6f162dbca94a ca8e5a2b-459e-46c9-9818-cc8a71465b1f g.chr11:95546720C>T uc001pfp.1 + 4 692 c.471C>T c.(469-471)GCC>GCT p.A157A CEP57_uc001pfo.1_Silent_p.A157A|CEP57_uc010ruh.1_Silent_p.A148A|CEP57_uc010rui.1_Silent_p.A157A|CEP57_uc009ywn.1_Silent_p.A5A|CEP57_uc001pfq.1_Silent_p.A157A|CEP57_uc001pfr.1_Silent_p.A5A NM_014679 NP_055494 Q86XR8 CEP57_HUMAN translokin 157 Potential.|centrosome localization domain (CLD) (By similarity). fibroblast growth factor receptor signaling pathway|G2/M transition of mitotic cell cycle|protein import into nucleus, translocation|spermatid development centrosome|cytosol|Golgi apparatus|microtubule|nucleus fibroblast growth factor binding|protein homodimerization activity ovary(1) 1 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) TAAAGCATGCCGAAATGGAGA 0.333 Mosaic_Variegated_Aneuploidy_Syndrome 11 24 --- --- --- --- PASS CUL5 8065 broad.mit.edu 37 11 107920638 107920638 + Missense_Mutation SNP G A A TCGA-46-6026-01A-11D-1817-08 TCGA-46-6026-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 42a4a60c-257e-4bf6-a9ba-6f162dbca94a ca8e5a2b-459e-46c9-9818-cc8a71465b1f g.chr11:107920638G>A uc001pjv.2 + 4 923 c.256G>A c.(256-258)GAT>AAT p.D86N CUL5_uc001pju.2_RNA NM_003478 NP_003469 Q93034 CUL5_HUMAN Vasopressin-activated calcium-mobilizing 86 cell cycle arrest|cell proliferation|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process|viral reproduction cullin-RING ubiquitin ligase complex|cytosol calcium channel activity|receptor activity|ubiquitin protein ligase binding ovary(1) 1 all_cancers(61;7.09e-10)|all_epithelial(67;2.97e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|Melanoma(852;4.48e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) BRCA - Breast invasive adenocarcinoma(274;3.58e-05)|Epithelial(105;4.68e-05)|all cancers(92;0.00122)|OV - Ovarian serous cystadenocarcinoma(223;0.217) CCATCAAGATGATACGGCTTT 0.308 13 37 --- --- --- --- PASS CUL5 8065 broad.mit.edu 37 11 107920721 107920721 + Silent SNP A G G TCGA-46-6026-01A-11D-1817-08 TCGA-46-6026-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 42a4a60c-257e-4bf6-a9ba-6f162dbca94a ca8e5a2b-459e-46c9-9818-cc8a71465b1f g.chr11:107920721A>G uc001pjv.2 + 4 1006 c.339A>G c.(337-339)CAA>CAG p.Q113Q CUL5_uc001pju.2_RNA NM_003478 NP_003469 Q93034 CUL5_HUMAN Vasopressin-activated calcium-mobilizing 113 cell cycle arrest|cell proliferation|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process|viral reproduction cullin-RING ubiquitin ligase complex|cytosol calcium channel activity|receptor activity|ubiquitin protein ligase binding ovary(1) 1 all_cancers(61;7.09e-10)|all_epithelial(67;2.97e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|Melanoma(852;4.48e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) BRCA - Breast invasive adenocarcinoma(274;3.58e-05)|Epithelial(105;4.68e-05)|all cancers(92;0.00122)|OV - Ovarian serous cystadenocarcinoma(223;0.217) CTTTTTGTCAACTAGAGATTA 0.338 44 26 --- --- --- --- PASS EXPH5 23086 broad.mit.edu 37 11 108385055 108385055 + Silent SNP T A A TCGA-46-6026-01A-11D-1817-08 TCGA-46-6026-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 42a4a60c-257e-4bf6-a9ba-6f162dbca94a ca8e5a2b-459e-46c9-9818-cc8a71465b1f g.chr11:108385055T>A uc001pkk.2 - 6 1290 c.1179A>T c.(1177-1179)TCA>TCT p.S393S EXPH5_uc010rvy.1_Silent_p.S205S|EXPH5_uc010rvz.1_Silent_p.S237S|EXPH5_uc010rwa.1_Silent_p.S317S NM_015065 NP_055880 Q8NEV8 EXPH5_HUMAN exophilin 5 isoform a 393 intracellular protein transport Rab GTPase binding skin(3)|ovary(2) 5 all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16) Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184) TTTCCATTGGTGATGGTGCCC 0.443 126 96 --- --- --- --- PASS CBL 867 broad.mit.edu 37 11 119149399 119149399 + Missense_Mutation SNP G A A rs138277394 TCGA-46-6026-01A-11D-1817-08 TCGA-46-6026-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 42a4a60c-257e-4bf6-a9ba-6f162dbca94a ca8e5a2b-459e-46c9-9818-cc8a71465b1f g.chr11:119149399G>A uc001pwe.2 + 9 1545 c.1407G>A c.(1405-1407)ATG>ATA p.M469I NM_005188 NP_005179 P22681 CBL_HUMAN Cas-Br-M (murine) ecotropic retroviral 469 Asp/Glu-rich (acidic). epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of receptor-mediated endocytosis cytosol|nucleus calcium ion binding|sequence-specific DNA binding transcription factor activity|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding p.E366_K477del(1) haematopoietic_and_lymphoid_tissue(135)|lung(10)|central_nervous_system(2)|ovary(1)|breast(1) 149 Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784) CTCTCTTCATGATGAAGGAAT 0.463 CBL_gene-associated_Juvenile_Myelomonocytic_Leukemia_and_Developmental_Anomalies|Noonan_syndrome 37 34 --- --- --- --- PASS CCDC15 80071 broad.mit.edu 37 11 124875041 124875041 + Missense_Mutation SNP A G G TCGA-46-6026-01A-11D-1817-08 TCGA-46-6026-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 42a4a60c-257e-4bf6-a9ba-6f162dbca94a ca8e5a2b-459e-46c9-9818-cc8a71465b1f g.chr11:124875041A>G uc001qbm.3 + 13 2603 c.2344A>G c.(2344-2346)ATG>GTG p.M782V NM_025004 NP_079280 Q0P6D6 CCD15_HUMAN coiled-coil domain containing 15 782 Potential. centrosome ovary(1)|central_nervous_system(1) 2 all_hematologic(175;0.215) Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.68e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0413) acgacttttcatggatattGA 0.164 8 2 --- --- --- --- PASS CACNA1C 775 broad.mit.edu 37 12 2224635 2224635 + Missense_Mutation SNP C T T TCGA-46-6026-01A-11D-1817-08 TCGA-46-6026-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 42a4a60c-257e-4bf6-a9ba-6f162dbca94a ca8e5a2b-459e-46c9-9818-cc8a71465b1f g.chr12:2224635C>T uc009zdu.1 + 2 608 c.295C>T c.(295-297)CGC>TGC p.R99C CACNA1C_uc009zdv.1_Missense_Mutation_p.R99C|CACNA1C_uc001qkb.2_Missense_Mutation_p.R99C|CACNA1C_uc001qkc.2_Missense_Mutation_p.R99C|CACNA1C_uc001qke.2_Missense_Mutation_p.R99C|CACNA1C_uc001qkf.2_Missense_Mutation_p.R99C|CACNA1C_uc001qjz.2_Missense_Mutation_p.R99C|CACNA1C_uc001qkd.2_Missense_Mutation_p.R99C|CACNA1C_uc001qkg.2_Missense_Mutation_p.R99C|CACNA1C_uc009zdw.1_Missense_Mutation_p.R99C|CACNA1C_uc001qkh.2_Missense_Mutation_p.R99C|CACNA1C_uc001qkl.2_Missense_Mutation_p.R99C|CACNA1C_uc001qkn.2_Missense_Mutation_p.R99C|CACNA1C_uc001qko.2_Missense_Mutation_p.R99C|CACNA1C_uc001qkp.2_Missense_Mutation_p.R99C|CACNA1C_uc001qkr.2_Missense_Mutation_p.R99C|CACNA1C_uc001qku.2_Missense_Mutation_p.R99C|CACNA1C_uc001qkq.2_Missense_Mutation_p.R99C|CACNA1C_uc001qks.2_Missense_Mutation_p.R99C|CACNA1C_uc001qkt.2_Missense_Mutation_p.R99C NM_199460 NP_955630 Q13936 CAC1C_HUMAN calcium channel, voltage-dependent, L type, 99 Cytoplasmic (Potential). axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion cytoplasm|postsynaptic density|voltage-gated calcium channel complex calmodulin binding|voltage-gated calcium channel activity ovary(10)|central_nervous_system(1) 11 OV - Ovarian serous cystadenocarcinoma(31;0.00256) LUAD - Lung adenocarcinoma(1;0.134) Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661) CACGGCCACACGCCCGCCCCG 0.627 46 55 --- --- --- --- PASS NDUFA9 4704 broad.mit.edu 37 12 4763618 4763618 + Silent SNP C T T TCGA-46-6026-01A-11D-1817-08 TCGA-46-6026-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 42a4a60c-257e-4bf6-a9ba-6f162dbca94a ca8e5a2b-459e-46c9-9818-cc8a71465b1f g.chr12:4763618C>T uc001qnc.2 + 2 220 c.210C>T c.(208-210)GTC>GTT p.V70V NDUFA9_uc009zei.1_Silent_p.V70V NM_005002 NP_004993 Q16795 NDUA9_HUMAN NADH dehydrogenase (ubiquinone) 1 alpha 70 mitochondrial electron transport, NADH to ubiquinone|sodium ion transport mitochondrial matrix|mitochondrial respiratory chain complex I NADH dehydrogenase (ubiquinone) activity|protein binding ovary(1) 1 NADH(DB00157) GATATGTTGTCAACCACCTTG 0.458 43 94 --- --- --- --- PASS PFKM 5213 broad.mit.edu 37 12 48531536 48531536 + Silent SNP A G G TCGA-46-6026-01A-11D-1817-08 TCGA-46-6026-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 42a4a60c-257e-4bf6-a9ba-6f162dbca94a ca8e5a2b-459e-46c9-9818-cc8a71465b1f g.chr12:48531536A>G uc001rrc.2 + 11 1139 c.969A>G c.(967-969)GCA>GCG p.A323A PFKM_uc001rra.1_Silent_p.A8A|PFKM_uc001rrb.1_Silent_p.A394A|PFKM_uc001rrd.2_Silent_p.A8A|PFKM_uc001rre.1_Silent_p.A323A|PFKM_uc001rrg.1_Silent_p.A292A NM_000289 NP_000280 P08237 K6PF_HUMAN phosphofructokinase, muscle 323 fructose 6-phosphate metabolic process|glycolysis|muscle cell homeostasis 6-phosphofructokinase complex|apical plasma membrane 6-phosphofructokinase activity|ATP binding|identical protein binding|kinase binding|metal ion binding|protein C-terminus binding ovary(2)|upper_aerodigestive_tract(1)|kidney(1) 4 CAGTGATGGCACTTTTGGAGG 0.587 35 91 --- --- --- --- PASS ACCN2 41 broad.mit.edu 37 12 50471078 50471078 + Missense_Mutation SNP C T T TCGA-46-6026-01A-11D-1817-08 TCGA-46-6026-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 42a4a60c-257e-4bf6-a9ba-6f162dbca94a ca8e5a2b-459e-46c9-9818-cc8a71465b1f g.chr12:50471078C>T uc001rvw.2 + 4 870 c.641C>T c.(640-642)ACG>ATG p.T214M ACCN2_uc001rvv.2_Missense_Mutation_p.T214M|ACCN2_uc009zln.2_Missense_Mutation_p.T5M|ACCN2_uc009zlo.2_Missense_Mutation_p.T214M NM_001095 NP_001086 P78348 ACCN2_HUMAN amiloride-sensitive cation channel 2, neuronal 214 Extracellular (By similarity). calcium ion transport|response to pH|signal transduction integral to plasma membrane ligand-gated sodium channel activity|protein binding ovary(1) 1 Amiloride(DB00594) AAGGGTGGGACGGGCAATGGG 0.617 34 48 --- --- --- --- PASS TBK1 29110 broad.mit.edu 37 12 64891754 64891754 + Missense_Mutation SNP G C C TCGA-46-6026-01A-11D-1817-08 TCGA-46-6026-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 42a4a60c-257e-4bf6-a9ba-6f162dbca94a ca8e5a2b-459e-46c9-9818-cc8a71465b1f g.chr12:64891754G>C uc001ssc.1 + 20 2135 c.2073G>C c.(2071-2073)AAG>AAC p.K691N NM_013254 NP_037386 Q9UHD2 TBK1_HUMAN TANK-binding kinase 1 691 Potential. I-kappaB kinase/NF-kappaB cascade|innate immune response|interspecies interaction between organisms|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of transcription from RNA polymerase II promoter|response to virus|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|endosome membrane|plasma membrane ATP binding|phosphoprotein binding|protein serine/threonine kinase activity central_nervous_system(2)|ovary(1)|large_intestine(1)|breast(1) 5 GBM - Glioblastoma multiforme(28;0.0386) TTAGTATGAAGAAATTAAAGG 0.289 40 52 --- --- --- --- PASS CAPS2 84698 broad.mit.edu 37 12 75687147 75687147 + Missense_Mutation SNP C T T TCGA-46-6026-01A-11D-1817-08 TCGA-46-6026-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 42a4a60c-257e-4bf6-a9ba-6f162dbca94a ca8e5a2b-459e-46c9-9818-cc8a71465b1f g.chr12:75687147C>T uc001sxk.3 - 13 1299 c.1102G>A c.(1102-1104)GGT>AGT p.G368S CAPS2_uc001sxm.3_Missense_Mutation_p.G136S|CAPS2_uc009zsa.2_5'UTR|CAPS2_uc001sxi.3_Missense_Mutation_p.G104S|CAPS2_uc001sxj.3_Missense_Mutation_p.G279S|CAPS2_uc001sxl.3_Missense_Mutation_p.G349S NM_032606 NP_115995 Q9BXY5 CAYP2_HUMAN calcyphosine 2 368 calcium ion binding ovary(2) 2 AAGGTTGCACCCTAAACAAAA 0.303 27 11 --- --- --- --- PASS CCDC38 120935 broad.mit.edu 37 12 96266040 96266040 + Missense_Mutation SNP G A A rs142050445 TCGA-46-6026-01A-11D-1817-08 TCGA-46-6026-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 42a4a60c-257e-4bf6-a9ba-6f162dbca94a ca8e5a2b-459e-46c9-9818-cc8a71465b1f g.chr12:96266040G>A uc001tek.1 - 14 1711 c.1477C>T c.(1477-1479)CGG>TGG p.R493W NM_182496 NP_872302 Q502W7 CCD38_HUMAN coiled-coil domain containing 38 493 skin(1) 1 TACTTTTGCCGCCATTCTTTC 0.398 108 90 --- --- --- --- PASS ANKS1B 56899 broad.mit.edu 37 12 99837544 99837544 + Missense_Mutation SNP G T T TCGA-46-6026-01A-11D-1817-08 TCGA-46-6026-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 42a4a60c-257e-4bf6-a9ba-6f162dbca94a ca8e5a2b-459e-46c9-9818-cc8a71465b1f g.chr12:99837544G>T uc001tge.1 - 11 1899 c.1482C>A c.(1480-1482)AAC>AAA p.N494K ANKS1B_uc001tgf.1_Missense_Mutation_p.N74K|ANKS1B_uc009ztt.1_Missense_Mutation_p.N460K NM_152788 NP_690001 Q7Z6G8 ANS1B_HUMAN cajalin 2 isoform a 494 Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane 0 all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209) OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06) TGTTTCTATGGTTACTAGTTC 0.418 58 77 --- --- --- --- PASS ANO4 121601 broad.mit.edu 37 12 101505455 101505455 + Missense_Mutation SNP G T T TCGA-46-6026-01A-11D-1817-08 TCGA-46-6026-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 42a4a60c-257e-4bf6-a9ba-6f162dbca94a ca8e5a2b-459e-46c9-9818-cc8a71465b1f g.chr12:101505455G>T uc010svm.1 + 24 2989 c.2417G>T c.(2416-2418)GGA>GTA p.G806V ANO4_uc001thw.2_Missense_Mutation_p.G771V|ANO4_uc001thx.2_Missense_Mutation_p.G806V|ANO4_uc001thy.2_Missense_Mutation_p.G326V NM_178826 NP_849148 Q32M45 ANO4_HUMAN anoctamin 4 806 Cytoplasmic (Potential). chloride channel complex chloride channel activity ovary(4)|skin(2) 6 TATAAGTATGGACCTTGTGCA 0.398 HNSCC(74;0.22) 40 44 --- --- --- --- PASS STAB2 55576 broad.mit.edu 37 12 104144435 104144435 + Missense_Mutation SNP C A A TCGA-46-6026-01A-11D-1817-08 TCGA-46-6026-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 42a4a60c-257e-4bf6-a9ba-6f162dbca94a ca8e5a2b-459e-46c9-9818-cc8a71465b1f g.chr12:104144435C>A uc001tjw.2 + 60 6703 c.6517C>A c.(6517-6519)CGC>AGC p.R2173S STAB2_uc009zug.2_RNA NM_017564 NP_060034 Q8WWQ8 STAB2_HUMAN stabilin 2 precursor 2173 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 GCCCATTGACCGCTGCTTACA 0.567 40 29 --- --- --- --- PASS VPS29 51699 broad.mit.edu 37 12 110929836 110929836 + Missense_Mutation SNP C T T TCGA-46-6026-01A-11D-1817-08 TCGA-46-6026-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 42a4a60c-257e-4bf6-a9ba-6f162dbca94a ca8e5a2b-459e-46c9-9818-cc8a71465b1f g.chr12:110929836C>T uc001tqy.2 - 4 583 c.523G>A c.(523-525)GAA>AAA p.E175K VPS29_uc001tqw.2_RNA|VPS29_uc001tqx.2_Missense_Mutation_p.E179K|VPS29_uc001tqz.2_RNA NM_016226 NP_057310 Q9UBQ0 VPS29_HUMAN vacuolar protein sorting 29 isoform 1 175 protein transport endosome membrane metal ion binding|phosphoserine phosphatase activity 0 TCGATTCGTTCTACTTTCACA 0.343 22 30 --- --- --- --- PASS SPPL3 121665 broad.mit.edu 37 12 121229358 121229358 + Missense_Mutation SNP G T T TCGA-46-6026-01A-11D-1817-08 TCGA-46-6026-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 42a4a60c-257e-4bf6-a9ba-6f162dbca94a ca8e5a2b-459e-46c9-9818-cc8a71465b1f g.chr12:121229358G>T uc001tzd.2 - 3 585 c.104C>A c.(103-105)TCC>TAC p.S35Y SPPL3_uc009zwz.2_Missense_Mutation_p.S35Y NM_139015 NP_620584 Q8TCT6 PSL4_HUMAN signal peptide peptidase 3 35 integral to membrane aspartic-type endopeptidase activity 0 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) CATATTAAGGGACCTGTGGAA 0.308 36 63 --- --- --- --- PASS HNF1A 6927 broad.mit.edu 37 12 121416877 121416877 + Silent SNP C A A TCGA-46-6026-01A-11D-1817-08 TCGA-46-6026-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 42a4a60c-257e-4bf6-a9ba-6f162dbca94a ca8e5a2b-459e-46c9-9818-cc8a71465b1f g.chr12:121416877C>A uc001tzg.2 + 1 329 c.306C>A c.(304-306)GCC>GCA p.A102A HNF1A_uc001tze.1_Silent_p.A102A|HNF1A_uc001tzf.2_Silent_p.A102A|HNF1A_uc010szn.1_Silent_p.A102A NM_000545 NP_000536 P20823 HNF1A_HUMAN hepatic nuclear factor-1-alpha 102 glucose homeostasis|glucose import|insulin secretion|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|renal glucose absorption cytoplasm|nucleus|protein complex DNA binding|protein dimerization activity|protein heterodimerization activity|protein homodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding liver(92)|large_intestine(15)|endometrium(6)|breast(2)|lung(1) 116 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) ACCAGAAAGCCGTGGTGGAGA 0.657 Hepatic_Adenoma_Familial_Clustering_of 3 0 --- --- --- --- PASS MLXIP 22877 broad.mit.edu 37 12 122618406 122618406 + Missense_Mutation SNP G T T TCGA-46-6026-01A-11D-1817-08 TCGA-46-6026-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 42a4a60c-257e-4bf6-a9ba-6f162dbca94a ca8e5a2b-459e-46c9-9818-cc8a71465b1f g.chr12:122618406G>T uc001ubq.2 + 9 1604 c.1604G>T c.(1603-1605)CGG>CTG p.R535L MLXIP_uc001ubr.2_Missense_Mutation_p.R286L|MLXIP_uc001ubs.1_Missense_Mutation_p.R142L|MLXIP_uc001ubt.2_Missense_Mutation_p.R142L NM_014938 NP_055753 Q9HAP2 MLXIP_HUMAN MLX interacting protein 535 regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrial outer membrane|nucleus DNA binding ovary(2) 2 all_neural(191;0.0837)|Medulloblastoma(191;0.163) Lung NSC(355;0.0659) OV - Ovarian serous cystadenocarcinoma(86;0.000599)|Epithelial(86;0.00102)|BRCA - Breast invasive adenocarcinoma(302;0.233) CCCCAGCCACGGTTAACTTTT 0.617 6 1 --- --- --- --- PASS ABCB9 23457 broad.mit.edu 37 12 123425541 123425541 + Missense_Mutation SNP G T T TCGA-46-6026-01A-11D-1817-08 TCGA-46-6026-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 42a4a60c-257e-4bf6-a9ba-6f162dbca94a ca8e5a2b-459e-46c9-9818-cc8a71465b1f g.chr12:123425541G>T uc001udm.3 - 8 1692 c.1382C>A c.(1381-1383)TCC>TAC p.S461Y ABCB9_uc010tai.1_Missense_Mutation_p.S68Y|ABCB9_uc009zxr.2_Intron|ABCB9_uc001udo.3_Missense_Mutation_p.S418Y|ABCB9_uc010taj.1_Intron|ABCB9_uc001udp.2_Missense_Mutation_p.S461Y|ABCB9_uc001udq.2_Intron|ABCB9_uc001udr.2_Missense_Mutation_p.S461Y NM_019625 NP_062571 Q9NP78 ABCB9_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), 461 ABC transmembrane type-1. positive regulation of T cell mediated cytotoxicity|protein transport lysosomal membrane|plasma membrane|TAP complex ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|protein homodimerization activity|TAP1 binding|TAP2 binding|tapasin binding 0 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;6.84e-05)|Epithelial(86;0.000152)|BRCA - Breast invasive adenocarcinoma(302;0.111) GGAGCCCACGGACTGGGGAGA 0.622 5 2 --- --- --- --- PASS EP400 57634 broad.mit.edu 37 12 132529905 132529905 + Missense_Mutation SNP G T T TCGA-46-6026-01A-11D-1817-08 TCGA-46-6026-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 42a4a60c-257e-4bf6-a9ba-6f162dbca94a ca8e5a2b-459e-46c9-9818-cc8a71465b1f g.chr12:132529905G>T uc001ujn.2 + 37 6861 c.6826G>T c.(6826-6828)GTC>TTC p.V2276F EP400_uc001ujl.2_Missense_Mutation_p.V2275F|EP400_uc001ujm.2_Missense_Mutation_p.V2195F NM_015409 NP_056224 Q96L91 EP400_HUMAN E1A binding protein p400 2312 histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity central_nervous_system(4)|ovary(3)|breast(3)|skin(2) 12 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) GGAGGCGGTCGTCCCTCCTCG 0.562 17 46 --- --- --- --- PASS TPTE2 93492 broad.mit.edu 37 13 20067042 20067042 + Missense_Mutation SNP G A A TCGA-46-6026-01A-11D-1817-08 TCGA-46-6026-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 42a4a60c-257e-4bf6-a9ba-6f162dbca94a ca8e5a2b-459e-46c9-9818-cc8a71465b1f g.chr13:20067042G>A uc001umd.2 - 4 278 c.67C>T c.(67-69)CCA>TCA p.P23S TPTE2_uc009zzk.2_RNA|TPTE2_uc009zzl.2_Missense_Mutation_p.P23S|TPTE2_uc001ume.2_Missense_Mutation_p.P23S|TPTE2_uc009zzm.2_5'UTR|TPTE2_uc010tcm.1_RNA NM_199254 NP_954863 Q6XPS3 TPTE2_HUMAN TPTE and PTEN homologous inositol lipid 23 endoplasmic reticulum membrane|integral to membrane ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity 0 all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089) CTTGTGTGTGGGCTAGAGGAT 0.353 15 86 --- --- --- --- PASS NBEA 26960 broad.mit.edu 37 13 36141107 36141107 + Missense_Mutation SNP G A A TCGA-46-6026-01A-11D-1817-08 TCGA-46-6026-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 42a4a60c-257e-4bf6-a9ba-6f162dbca94a ca8e5a2b-459e-46c9-9818-cc8a71465b1f g.chr13:36141107G>A uc001uvb.2 + 45 7194 c.6988G>A c.(6988-6990)GAA>AAA p.E2330K NBEA_uc010abi.2_Missense_Mutation_p.E986K|NBEA_uc010tee.1_Missense_Mutation_p.E123K|NBEA_uc010tef.1_Missense_Mutation_p.E123K|NBEA_uc010teg.1_Missense_Mutation_p.E123K NM_015678 NP_056493 Q8NFP9 NBEA_HUMAN neurobeachin 2330 BEACH. cytosol|endomembrane system|plasma membrane|trans-Golgi network protein binding ovary(9)|large_intestine(2) 11 Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207) all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199) CTATGAATCAGAAGAGTTGGA 0.348 61 74 --- --- --- --- PASS DCLK1 9201 broad.mit.edu 37 13 36686298 36686298 + Missense_Mutation SNP T C C TCGA-46-6026-01A-11D-1817-08 TCGA-46-6026-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 42a4a60c-257e-4bf6-a9ba-6f162dbca94a ca8e5a2b-459e-46c9-9818-cc8a71465b1f g.chr13:36686298T>C uc001uvf.2 - 3 664 c.431A>G c.(430-432)AAG>AGG p.K144R NM_004734 NP_004725 O15075 DCLK1_HUMAN doublecortin-like kinase 1 144 cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus integral to plasma membrane ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity stomach(6)|ovary(2)|skin(1) 9 Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122) KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169) all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638) GTTCACATTCTTGGTGTACTC 0.463 56 61 --- --- --- --- PASS MYO16 23026 broad.mit.edu 37 13 109793152 109793152 + Nonsense_Mutation SNP C A A TCGA-46-6026-01A-11D-1817-08 TCGA-46-6026-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 42a4a60c-257e-4bf6-a9ba-6f162dbca94a ca8e5a2b-459e-46c9-9818-cc8a71465b1f g.chr13:109793152C>A uc001vqt.1 + 32 4652 c.4526C>A c.(4525-4527)TCG>TAG p.S1509* MYO16_uc010agk.1_Nonsense_Mutation_p.S1531* NM_015011 NP_055826 Q9Y6X6 MYO16_HUMAN myosin heavy chain Myr 8 1509 Pro-rich. cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane actin filament binding|ATP binding|motor activity ovary(6)|large_intestine(1)|kidney(1)|breast(1)|central_nervous_system(1) 10 all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104) BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201) TCCGACGAGTCGCCCCTGACA 0.711 5 8 --- --- --- --- PASS TEP1 7011 broad.mit.edu 37 14 20849731 20849731 + Silent SNP C A A rs140821977 TCGA-46-6026-01A-11D-1817-08 TCGA-46-6026-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 42a4a60c-257e-4bf6-a9ba-6f162dbca94a ca8e5a2b-459e-46c9-9818-cc8a71465b1f g.chr14:20849731C>A uc001vxe.2 - 31 4579 c.4539G>T c.(4537-4539)ACG>ACT p.T1513T TEP1_uc010ahk.2_Silent_p.T856T|TEP1_uc010tlf.1_Intron|TEP1_uc010tlg.1_Silent_p.T1405T|TEP1_uc010tlh.1_Intron NM_007110 NP_009041 Q99973 TEP1_HUMAN telomerase-associated protein 1 1513 telomere maintenance via recombination chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex ATP binding|RNA binding ovary(5) 5 all_cancers(95;0.00123) all_lung(585;0.235) Epithelial(56;7.42e-08)|all cancers(55;6.46e-07) GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233) GGATGTGTGCCGTGTCCTCTA 0.637 58 9 --- --- --- --- PASS LRFN5 145581 broad.mit.edu 37 14 42357019 42357019 + Silent SNP C T T TCGA-46-6026-01A-11D-1817-08 TCGA-46-6026-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 42a4a60c-257e-4bf6-a9ba-6f162dbca94a ca8e5a2b-459e-46c9-9818-cc8a71465b1f g.chr14:42357019C>T uc001wvm.2 + 3 2389 c.1191C>T c.(1189-1191)ATC>ATT p.I397I LRFN5_uc010ana.2_Silent_p.I397I NM_152447 NP_689660 Q96NI6 LRFN5_HUMAN leucine rich repeat and fibronectin type III 397 Extracellular (Potential). integral to membrane ovary(5)|pancreas(2)|central_nervous_system(1) 8 LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728) GBM - Glioblastoma multiforme(112;0.00847) CTTCAGATATCTCAACTTCTA 0.383 HNSCC(30;0.082) 16 7 --- --- --- --- PASS LRFN5 145581 broad.mit.edu 37 14 42361132 42361132 + Missense_Mutation SNP G T T TCGA-46-6026-01A-11D-1817-08 TCGA-46-6026-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 42a4a60c-257e-4bf6-a9ba-6f162dbca94a ca8e5a2b-459e-46c9-9818-cc8a71465b1f g.chr14:42361132G>T uc001wvm.2 + 4 3263 c.2065G>T c.(2065-2067)GGG>TGG p.G689W LRFN5_uc010ana.2_Intron NM_152447 NP_689660 Q96NI6 LRFN5_HUMAN leucine rich repeat and fibronectin type III 689 Cytoplasmic (Potential). integral to membrane ovary(5)|pancreas(2)|central_nervous_system(1) 8 LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728) GBM - Glioblastoma multiforme(112;0.00847) TGTCACAGAGGGGCCCACGTC 0.468 HNSCC(30;0.082) 30 10 --- --- --- --- PASS SOS2 6655 broad.mit.edu 37 14 50623738 50623738 + Missense_Mutation SNP T A A TCGA-46-6026-01A-11D-1817-08 TCGA-46-6026-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 42a4a60c-257e-4bf6-a9ba-6f162dbca94a ca8e5a2b-459e-46c9-9818-cc8a71465b1f g.chr14:50623738T>A uc001wxs.3 - 12 2134 c.2036A>T c.(2035-2037)TAT>TTT p.Y679F SOS2_uc010tql.1_Missense_Mutation_p.Y646F|SOS2_uc010tqm.1_RNA|SOS2_uc001wxt.2_Missense_Mutation_p.Y367F NM_006939 NP_008870 Q07890 SOS2_HUMAN son of sevenless homolog 2 679 N-terminal Ras-GEF. apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol DNA binding|protein binding|Rho guanyl-nucleotide exchange factor activity ovary(2) 2 all_epithelial(31;0.000822)|Breast(41;0.0065) TGGTTGGACATATTCCTTGCG 0.338 13 1 --- --- --- --- PASS MAPK1IP1L 93487 broad.mit.edu 37 14 55529998 55529998 + Silent SNP G A A TCGA-46-6026-01A-11D-1817-08 TCGA-46-6026-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 42a4a60c-257e-4bf6-a9ba-6f162dbca94a ca8e5a2b-459e-46c9-9818-cc8a71465b1f g.chr14:55529998G>A uc001xbq.1 + 3 845 c.681G>A c.(679-681)GTG>GTA p.V227V NM_144578 NP_653179 Q8NDC0 MISSL_HUMAN MAPK-interacting and spindle-stabilizing 227 Pro-rich. 0 CTTTCCAAGTGCCTTCAGGAC 0.502 4 58 --- --- --- --- PASS ESRRB 2103 broad.mit.edu 37 14 76906001 76906001 + Missense_Mutation SNP T C C TCGA-46-6026-01A-11D-1817-08 TCGA-46-6026-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 42a4a60c-257e-4bf6-a9ba-6f162dbca94a ca8e5a2b-459e-46c9-9818-cc8a71465b1f g.chr14:76906001T>C uc001xsq.1 + 2 372 c.305T>C c.(304-306)CTG>CCG p.L102P ESRRB_uc001xsr.2_Missense_Mutation_p.L102P|ESRRB_uc001xso.2_RNA NM_004452 NP_004443 A2VDJ2 A2VDJ2_HUMAN estrogen-related receptor beta 102 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding ovary(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(234;0.0213) CCCAAGCGCCTGTGCCTCGTG 0.622 25 1 --- --- --- --- PASS SEL1L 6400 broad.mit.edu 37 14 81950624 81950624 + Missense_Mutation SNP G A A TCGA-46-6026-01A-11D-1817-08 TCGA-46-6026-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 42a4a60c-257e-4bf6-a9ba-6f162dbca94a ca8e5a2b-459e-46c9-9818-cc8a71465b1f g.chr14:81950624G>A uc010tvv.1 - 19 2108 c.1991C>T c.(1990-1992)GCA>GTA p.A664V NM_005065 NP_005056 Q9UBV2 SE1L1_HUMAN sel-1 suppressor of lin-12-like precursor 664 Lumenal (Potential).|Interaction with ERLEC1, OS9 and SYVN1.|Sel1-like 11. Notch signaling pathway endoplasmic reticulum membrane|integral to membrane protein binding ovary(1) 1 BRCA - Breast invasive adenocarcinoma(234;0.0299) CATAGCTTGTGCACTGTGTTG 0.413 199 37 --- --- --- --- PASS GPR68 8111 broad.mit.edu 37 14 91700917 91700917 + Missense_Mutation SNP C T T TCGA-46-6026-01A-11D-1817-08 TCGA-46-6026-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 42a4a60c-257e-4bf6-a9ba-6f162dbca94a ca8e5a2b-459e-46c9-9818-cc8a71465b1f g.chr14:91700917C>T uc001xzg.2 - 2 819 c.478G>A c.(478-480)GAG>AAG p.E160K GPR68_uc001xzh.2_Missense_Mutation_p.E170K NM_003485 NP_003476 Q15743 OGR1_HUMAN G protein-coupled receptor 68 160 Extracellular (Potential). inflammatory response integral to plasma membrane G-protein coupled receptor activity kidney(1) 1 all_cancers(154;0.0555) COAD - Colon adenocarcinoma(157;0.21) ATGACCTCCTCGTGCATCAGG 0.622 12 2 --- --- --- --- PASS TRAF3 7187 broad.mit.edu 37 14 103371855 103371855 + Nonsense_Mutation SNP G T T TCGA-46-6026-01A-11D-1817-08 TCGA-46-6026-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 42a4a60c-257e-4bf6-a9ba-6f162dbca94a ca8e5a2b-459e-46c9-9818-cc8a71465b1f g.chr14:103371855G>T uc001ymc.1 + 12 1794 c.1441G>T c.(1441-1443)GAA>TAA p.E481* TRAF3_uc001yme.1_Nonsense_Mutation_p.E456*|TRAF3_uc001ymd.1_Nonsense_Mutation_p.E481*|TRAF3_uc010txy.1_Nonsense_Mutation_p.E398* NM_145725 NP_663777 Q13114 TRAF3_HUMAN TNF receptor-associated factor 3 isoform 1 481 MATH. apoptosis|induction of apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|regulation of defense response to virus|regulation of interferon-beta production|regulation of proteolysis|toll-like receptor signaling pathway|tumor necrosis factor-mediated signaling pathway CD40 receptor complex|cytosol|endosome|internal side of plasma membrane|mitochondrion signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding ovary(1)|lung(1)|breast(1) 3 all_cancers(154;7.87e-06)|all_epithelial(191;0.0024) Epithelial(152;9.92e-24)|all cancers(159;2.23e-21)|OV - Ovarian serous cystadenocarcinoma(161;7.85e-12)|Colorectal(3;0.0971) CATGCGTGGAGAATATGATGC 0.517 76 17 --- --- --- --- PASS OR4M2 390538 broad.mit.edu 37 15 22369024 22369024 + Missense_Mutation SNP G T T TCGA-46-6026-01A-11D-1817-08 TCGA-46-6026-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 42a4a60c-257e-4bf6-a9ba-6f162dbca94a ca8e5a2b-459e-46c9-9818-cc8a71465b1f g.chr15:22369024G>T uc010tzu.1 + 1 449 c.449G>T c.(448-450)AGG>ATG p.R150M LOC727924_uc001yua.2_RNA|LOC727924_uc001yub.1_Intron|OR4N4_uc001yuc.1_Intron NM_001004719 NP_001004719 Q8NGB6 OR4M2_HUMAN olfactory receptor, family 4, subfamily M, 150 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101) GBM - Glioblastoma multiforme(6;0.124) all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963) CTCTCCTGGAGGGGGGGCTTC 0.502 35 212 --- --- --- --- PASS ALDH1A2 8854 broad.mit.edu 37 15 58285190 58285190 + Missense_Mutation SNP C G G TCGA-46-6026-01A-11D-1817-08 TCGA-46-6026-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 42a4a60c-257e-4bf6-a9ba-6f162dbca94a ca8e5a2b-459e-46c9-9818-cc8a71465b1f g.chr15:58285190C>G uc002aex.2 - 6 695 c.637G>C c.(637-639)GAG>CAG p.E213Q ALDH1A2_uc002aey.2_Missense_Mutation_p.E213Q|ALDH1A2_uc010ugv.1_Missense_Mutation_p.E192Q|ALDH1A2_uc010ugw.1_Missense_Mutation_p.E184Q|ALDH1A2_uc002aew.2_Missense_Mutation_p.E117Q NM_003888 NP_003879 O94788 AL1A2_HUMAN aldehyde dehydrogenase 1A2 isoform 1 213 negative regulation of cell proliferation|neural tube development|response to cytokine stimulus nucleus 3-chloroallyl aldehyde dehydrogenase activity|retinal binding|retinal dehydrogenase activity central_nervous_system(1) 1 GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18) NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162) GGTGTTTGCTCTGCTGGCTTA 0.493 42 64 --- --- --- --- PASS FAM63B 54629 broad.mit.edu 37 15 59063709 59063709 + Missense_Mutation SNP G C C TCGA-46-6026-01A-11D-1817-08 TCGA-46-6026-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 42a4a60c-257e-4bf6-a9ba-6f162dbca94a ca8e5a2b-459e-46c9-9818-cc8a71465b1f g.chr15:59063709G>C uc002afj.2 + 1 317 c.115G>C c.(115-117)GAT>CAT p.D39H FAM63B_uc002afi.2_Missense_Mutation_p.D39H|FAM63B_uc002afk.2_RNA|FAM63B_uc002afl.2_RNA NM_001040450 NP_001035540 Q8NBR6 FA63B_HUMAN hypothetical protein LOC54629 isoform a 39 central_nervous_system(1) 1 CGCCGCTGGTGATGGTCCTGG 0.726 15 26 --- --- --- --- PASS IGDCC3 9543 broad.mit.edu 37 15 65623939 65623939 + Nonsense_Mutation SNP C A A rs145612224 byFrequency TCGA-46-6026-01A-11D-1817-08 TCGA-46-6026-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 42a4a60c-257e-4bf6-a9ba-6f162dbca94a ca8e5a2b-459e-46c9-9818-cc8a71465b1f g.chr15:65623939C>A uc002aos.2 - 8 1459 c.1207G>T c.(1207-1209)GAG>TAG p.E403* IGDCC3_uc002aor.1_5'Flank NM_004884 NP_004875 Q8IVU1 IGDC3_HUMAN putative neuronal cell adhesion molecule 403 Extracellular (Potential).|Ig-like C2-type 4. ovary(3) 3 GCACTGTTCTCGGCCACACAC 0.617 9 12 --- --- --- --- PASS AKAP13 11214 broad.mit.edu 37 15 86122698 86122698 + Missense_Mutation SNP G A A TCGA-46-6026-01A-11D-1817-08 TCGA-46-6026-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 42a4a60c-257e-4bf6-a9ba-6f162dbca94a ca8e5a2b-459e-46c9-9818-cc8a71465b1f g.chr15:86122698G>A uc002blv.1 + 7 1569 c.1399G>A c.(1399-1401)GGC>AGC p.G467S AKAP13_uc002blt.1_Missense_Mutation_p.G467S|AKAP13_uc002blu.1_Missense_Mutation_p.G467S NM_007200 NP_009131 Q12802 AKP13_HUMAN A-kinase anchor protein 13 isoform 2 467 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|membrane|membrane fraction|nucleus cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity central_nervous_system(3)|kidney(2)|urinary_tract(1)|liver(1)|skin(1)|ovary(1) 9 TGAACTGGGAGGCATTTCAAC 0.532 15 80 --- --- --- --- PASS C15orf51 196968 broad.mit.edu 37 15 100339913 100339913 + RNA SNP A T T TCGA-46-6026-01A-11D-1817-08 TCGA-46-6026-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 42a4a60c-257e-4bf6-a9ba-6f162dbca94a ca8e5a2b-459e-46c9-9818-cc8a71465b1f g.chr15:100339913A>T uc010urx.1 - 4 c.1014T>A C15orf51_uc010ury.1_RNA|uc002bvp.2_5'Flank|C15orf51_uc010urz.1_RNA|uc002bvq.2_5'Flank|uc002bvt.1_5'Flank NR_003260 Homo sapiens cDNA FLJ43799 fis, clone TESTI4000288. 0 TGATGCTGAGAGCCTCTTTCA 0.642 8 34 --- --- --- --- PASS TPSG1 25823 broad.mit.edu 37 16 1272258 1272258 + Missense_Mutation SNP G T T TCGA-46-6026-01A-11D-1817-08 TCGA-46-6026-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 42a4a60c-257e-4bf6-a9ba-6f162dbca94a ca8e5a2b-459e-46c9-9818-cc8a71465b1f g.chr16:1272258G>T uc002ckw.2 - 5 597 c.595C>A c.(595-597)CCC>ACC p.P199T NM_012467 NP_036599 Q9NRR2 TRYG1_HUMAN transmembrane tryptase preproprotein 199 Peptidase S1. proteolysis integral to plasma membrane serine-type endopeptidase activity 0 Hepatocellular(780;0.00369) CTGCCCCCGGGGCCGGGATAG 0.706 41 42 --- --- --- --- PASS SRL 6345 broad.mit.edu 37 16 4242878 4242878 + Missense_Mutation SNP C T T TCGA-46-6026-01A-11D-1817-08 TCGA-46-6026-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 42a4a60c-257e-4bf6-a9ba-6f162dbca94a ca8e5a2b-459e-46c9-9818-cc8a71465b1f g.chr16:4242878C>T uc002cvz.3 - 6 711 c.698G>A c.(697-699)GGT>GAT p.G233D SRL_uc002cvy.3_RNA NM_001098814 NP_001092284 Q86TD4 SRCA_HUMAN sarcalumenin 692 sarcoplasmic reticulum lumen GTP binding|GTPase activity ovary(3)|skin(2) 5 CAGCTCTAGACCCACATCCAG 0.527 29 33 --- --- --- --- PASS GRIN2A 2903 broad.mit.edu 37 16 9858401 9858401 + Silent SNP C T T TCGA-46-6026-01A-11D-1817-08 TCGA-46-6026-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 42a4a60c-257e-4bf6-a9ba-6f162dbca94a ca8e5a2b-459e-46c9-9818-cc8a71465b1f g.chr16:9858401C>T uc002czo.3 - 13 3548 c.3000G>A c.(2998-3000)GTG>GTA p.V1000V GRIN2A_uc010uym.1_Silent_p.V1000V|GRIN2A_uc010uyn.1_Silent_p.V843V|GRIN2A_uc002czr.3_Silent_p.V1000V NM_001134407 NP_001127879 Q12879 NMDE1_HUMAN N-methyl-D-aspartate receptor subunit 2A isoform 1000 Cytoplasmic (Potential). response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding skin(32)|NS(5)|ovary(4)|large_intestine(1)|lung(1)|breast(1)|kidney(1) 45 Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) ATTCTGTGCTCACGGCCACCT 0.512 53 57 --- --- --- --- PASS MYH11 4629 broad.mit.edu 37 16 15813504 15813504 + Missense_Mutation SNP T C C TCGA-46-6026-01A-11D-1817-08 TCGA-46-6026-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 42a4a60c-257e-4bf6-a9ba-6f162dbca94a ca8e5a2b-459e-46c9-9818-cc8a71465b1f g.chr16:15813504T>C uc002ddy.2 - 35 5127 c.5020A>G c.(5020-5022)ACA>GCA p.T1674A MYH11_uc002ddv.2_Missense_Mutation_p.T1681A|MYH11_uc002ddw.2_Missense_Mutation_p.T1674A|MYH11_uc002ddx.2_Missense_Mutation_p.T1681A|MYH11_uc010bvg.2_Missense_Mutation_p.T1506A|NDE1_uc010uzy.1_Intron|NDE1_uc002dds.2_Intron|MYH11_uc010bvh.2_Missense_Mutation_p.T380A|NDE1_uc002ddz.1_5'Flank NM_002474 NP_002465 P35749 MYH11_HUMAN smooth muscle myosin heavy chain 11 isoform 1674 Potential. 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 TCTTTGGCTGTGGCAAAGATC 0.522 T CBFB AML 78 103 --- --- --- --- PASS ABCC1 4363 broad.mit.edu 37 16 16208928 16208928 + Missense_Mutation SNP G A A rs74985930 TCGA-46-6026-01A-11D-1817-08 TCGA-46-6026-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 42a4a60c-257e-4bf6-a9ba-6f162dbca94a ca8e5a2b-459e-46c9-9818-cc8a71465b1f g.chr16:16208928G>A uc010bvi.2 + 23 3560 c.3385G>A c.(3385-3387)GTC>ATC p.V1129I ABCC1_uc010bvj.2_Missense_Mutation_p.V1070I|ABCC1_uc010bvk.2_Missense_Mutation_p.V1073I|ABCC1_uc010bvl.2_Missense_Mutation_p.V1129I|ABCC1_uc010bvm.2_Missense_Mutation_p.V1014I|ABCC1_uc002del.3_Missense_Mutation_p.V1023I NM_004996 NP_004987 P33527 MRP1_HUMAN ATP-binding cassette, sub-family C, member 1 1129 Helical; Name=15.|ABC transmembrane type-1 2. hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus ATP binding|ATPase activity, coupled to transmembrane movement of substances ovary(4) 4 Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138) CTACTTCTTCGTCCAGGTAAG 0.532 34 37 --- --- --- --- PASS EARS2 124454 broad.mit.edu 37 16 23535757 23535757 + Missense_Mutation SNP C G G TCGA-46-6026-01A-11D-1817-08 TCGA-46-6026-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 42a4a60c-257e-4bf6-a9ba-6f162dbca94a ca8e5a2b-459e-46c9-9818-cc8a71465b1f g.chr16:23535757C>G uc002dlt.3 - 9 1539 c.1507G>C c.(1507-1509)GAG>CAG p.E503Q EARS2_uc002dlr.3_RNA|EARS2_uc002dls.3_RNA NM_001083614 NP_001077083 Q5JPH6 SYEM_HUMAN glutamyl-tRNA synthetase 2 precursor 503 glutamyl-tRNA aminoacylation mitochondrial matrix ATP binding|glutamate-tRNA ligase activity|RNA binding 0 GBM - Glioblastoma multiforme(48;0.0353) L-Glutamic Acid(DB00142) AACATCATCTCAGCTACAGGA 0.473 81 108 --- --- --- --- PASS AQP8 343 broad.mit.edu 37 16 25235842 25235842 + Missense_Mutation SNP G T T TCGA-46-6026-01A-11D-1817-08 TCGA-46-6026-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 42a4a60c-257e-4bf6-a9ba-6f162dbca94a ca8e5a2b-459e-46c9-9818-cc8a71465b1f g.chr16:25235842G>T uc002doc.2 + 4 629 c.547G>T c.(547-549)GGC>TGC p.G183C NM_001169 NP_001160 O94778 AQP8_HUMAN aquaporin 8 183 Cytoplasmic (Potential). cellular response to cAMP integral to plasma membrane water channel activity upper_aerodigestive_tract(1)|breast(1)|pancreas(1) 3 GBM - Glioblastoma multiforme(48;0.044) GAAGACAAAGGGCCCTCTGGC 0.622 23 33 --- --- --- --- PASS GOT2 2806 broad.mit.edu 37 16 58743377 58743377 + Missense_Mutation SNP G T T TCGA-46-6026-01A-11D-1817-08 TCGA-46-6026-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 42a4a60c-257e-4bf6-a9ba-6f162dbca94a ca8e5a2b-459e-46c9-9818-cc8a71465b1f g.chr16:58743377G>T uc002eof.1 - 9 1228 c.1114C>A c.(1114-1116)CAA>AAA p.Q372K GOT2_uc010vim.1_Missense_Mutation_p.Q329K NM_002080 NP_002071 P00505 AATM_HUMAN aspartate aminotransferase 2 precursor 372 aspartate catabolic process|fatty acid transport|gluconeogenesis|response to ethanol mitochondrial matrix|plasma membrane L-aspartate:2-oxoglutarate aminotransferase activity|protein binding|pyridoxal phosphate binding central_nervous_system(1)|skin(1) 2 L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114) GTGATGTGTTGCCAATTGTGG 0.498 52 76 --- --- --- --- PASS HYDIN 54768 broad.mit.edu 37 16 70867983 70867983 + Missense_Mutation SNP G A A TCGA-46-6026-01A-11D-1817-08 TCGA-46-6026-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 42a4a60c-257e-4bf6-a9ba-6f162dbca94a ca8e5a2b-459e-46c9-9818-cc8a71465b1f g.chr16:70867983G>A uc002ezr.2 - 79 13611 c.13483C>T c.(13483-13485)CGT>TGT p.R4495C HYDIN_uc010cfy.2_RNA NM_032821 NP_116210 Q4G0P3 HYDIN_HUMAN hydrocephalus inducing isoform a 4496 ovary(1)|skin(1) 2 Ovarian(137;0.0654) GGAGGGACACGCTTCTTCGGG 0.552 21 5 --- --- --- --- PASS SPIRE2 84501 broad.mit.edu 37 16 89930203 89930203 + Missense_Mutation SNP T C C TCGA-46-6026-01A-11D-1817-08 TCGA-46-6026-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 42a4a60c-257e-4bf6-a9ba-6f162dbca94a ca8e5a2b-459e-46c9-9818-cc8a71465b1f g.chr16:89930203T>C uc002foz.1 + 12 1764 c.1712T>C c.(1711-1713)ATT>ACT p.I571T SPIRE2_uc010ciw.1_Missense_Mutation_p.I571T|SPIRE2_uc002fpa.1_Missense_Mutation_p.I523T|SPIRE2_uc010cix.1_Missense_Mutation_p.I438T NM_032451 NP_115827 Q8WWL2 SPIR2_HUMAN spire homolog 2 571 transport cytoplasm|cytoskeleton actin binding central_nervous_system(1) 1 Lung NSC(15;5.15e-06)|all_lung(18;8.38e-06)|all_hematologic(23;0.0194) BRCA - Breast invasive adenocarcinoma(80;0.0286) TCCTGACAGATTTGCTGCTGC 0.607 43 9 --- --- --- --- PASS C16orf3 750 broad.mit.edu 37 16 90095558 90095558 + Missense_Mutation SNP C T T rs76646627 TCGA-46-6026-01A-11D-1817-08 TCGA-46-6026-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 42a4a60c-257e-4bf6-a9ba-6f162dbca94a ca8e5a2b-459e-46c9-9818-cc8a71465b1f g.chr16:90095558C>T uc002fqk.1 - 1 752 c.193G>A c.(193-195)GGC>AGC p.G65S GAS8_uc010vps.1_Intron|GAS8_uc002fqh.2_Intron|GAS8_uc010vpt.1_Intron|GAS8_uc010vpu.1_Intron|GAS8_uc010vpv.1_Intron|GAS8_uc010cjc.1_Intron|GAS8_uc002fqi.1_Intron|GAS8_uc010vpw.1_Intron|GAS8_uc002fqj.1_Intron NM_001214 NP_001205 O95177 CP003_HUMAN hypothetical protein LOC750 73 0 all_cancers(9;9.01e-08)|Hepatocellular(780;0.000325)|Lung NSC(15;0.0104)|all_lung(18;0.0239) BRCA - Breast invasive adenocarcinoma(80;0.0272) acggggcagcctacggggcag 0.363 3 9 --- --- --- --- PASS ANKRD13B 124930 broad.mit.edu 37 17 27935921 27935921 + Silent SNP C T T TCGA-46-6026-01A-11D-1817-08 TCGA-46-6026-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 42a4a60c-257e-4bf6-a9ba-6f162dbca94a ca8e5a2b-459e-46c9-9818-cc8a71465b1f g.chr17:27935921C>T uc002hei.2 + 5 587 c.474C>T c.(472-474)AGC>AGT p.S158S ANKRD13B_uc002heh.2_Silent_p.S26S|ANKRD13B_uc002hej.2_RNA NM_152345 NP_689558 Q86YJ7 AN13B_HUMAN ankyrin repeat domain 13B 158 0 TGTGGAAGAGCGGCCAGAACC 0.592 21 20 --- --- --- --- PASS SLC6A4 6532 broad.mit.edu 37 17 28543219 28543219 + Missense_Mutation SNP C T T TCGA-46-6026-01A-11D-1817-08 TCGA-46-6026-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 42a4a60c-257e-4bf6-a9ba-6f162dbca94a ca8e5a2b-459e-46c9-9818-cc8a71465b1f g.chr17:28543219C>T uc002hey.3 - 7 1397 c.853G>A c.(853-855)GCC>ACC p.A285T NM_001045 NP_001036 P31645 SC6A4_HUMAN solute carrier family 6 member 4 285 Helical; Name=5; (Potential). response to toxin|serotonin uptake|thalamus development cytosol|endomembrane system|endosome membrane|membrane raft actin filament binding|Rab GTPase binding|serotonin transmembrane transporter activity|serotonin:sodium symporter activity skin(3)|ovary(1) 4 Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Doxepin(DB01142)|Duloxetine(DB00476)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Minaprine(DB00805)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phentermine(DB00191)|Protriptyline(DB00344)|Sertraline(DB01104)|Sibutramine(DB01105)|Tegaserod(DB01079)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Zimelidine(DB04832) GGGAAGGTGGCTGTCACCCAC 0.403 18 57 --- --- --- --- PASS UNC45B 146862 broad.mit.edu 37 17 33491078 33491078 + Silent SNP T A A TCGA-46-6026-01A-11D-1817-08 TCGA-46-6026-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 42a4a60c-257e-4bf6-a9ba-6f162dbca94a ca8e5a2b-459e-46c9-9818-cc8a71465b1f g.chr17:33491078T>A uc002hja.2 + 9 1141 c.1044T>A c.(1042-1044)ACT>ACA p.T348T UNC45B_uc002hjb.2_Silent_p.T348T|UNC45B_uc002hjc.2_Silent_p.T348T|UNC45B_uc010cto.2_Silent_p.T348T NM_173167 NP_775259 Q8IWX7 UN45B_HUMAN cardiomyopathy associated 4 isoform 1 348 cell differentiation|muscle organ development cytosol binding ovary(3)|central_nervous_system(2)|breast(1) 6 Ovarian(249;0.17) TGCCCCTGACTGACAACACCC 0.562 161 139 --- --- --- --- PASS AOC2 314 broad.mit.edu 37 17 40997994 40997994 + Missense_Mutation SNP A G G TCGA-46-6026-01A-11D-1817-08 TCGA-46-6026-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 42a4a60c-257e-4bf6-a9ba-6f162dbca94a ca8e5a2b-459e-46c9-9818-cc8a71465b1f g.chr17:40997994A>G uc002ibu.2 + 1 1386 c.1351A>G c.(1351-1353)AGC>GGC p.S451G AOC2_uc002ibt.2_Missense_Mutation_p.S451G NM_009590 NP_033720 O75106 AOC2_HUMAN amine oxidase, copper containing 2 isoform b 451 catecholamine metabolic process|visual perception cytoplasm|plasma membrane aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|electron carrier activity|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity ovary(2) 2 Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.156) TGGTTTGGCCAGCTCAGCCCT 0.522 42 87 --- --- --- --- PASS SDK2 54549 broad.mit.edu 37 17 71346876 71346876 + Silent SNP G A A TCGA-46-6026-01A-11D-1817-08 TCGA-46-6026-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 42a4a60c-257e-4bf6-a9ba-6f162dbca94a ca8e5a2b-459e-46c9-9818-cc8a71465b1f g.chr17:71346876G>A uc010dfm.2 - 42 5812 c.5812C>T c.(5812-5814)CTG>TTG p.L1938L SDK2_uc002jjt.3_Silent_p.L1078L NM_001144952 NP_001138424 Q58EX2 SDK2_HUMAN sidekick 2 1938 Helical; (Potential). cell adhesion integral to membrane ovary(2) 2 AGGCCGACCAGGGCAATGACC 0.567 52 51 --- --- --- --- PASS KIF19 124602 broad.mit.edu 37 17 72350424 72350424 + Missense_Mutation SNP C G G TCGA-46-6026-01A-11D-1817-08 TCGA-46-6026-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 42a4a60c-257e-4bf6-a9ba-6f162dbca94a ca8e5a2b-459e-46c9-9818-cc8a71465b1f g.chr17:72350424C>G uc002jkm.3 + 18 2570 c.2432C>G c.(2431-2433)TCC>TGC p.S811C NM_153209 NP_694941 Q2TAC6 KIF19_HUMAN kinesin family member 19 811 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity 0 AGCAGCCTGTCCCTGCACTCA 0.716 20 31 --- --- --- --- PASS TBC1D16 125058 broad.mit.edu 37 17 77914763 77914763 + Silent SNP C T T TCGA-46-6026-01A-11D-1817-08 TCGA-46-6026-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 42a4a60c-257e-4bf6-a9ba-6f162dbca94a ca8e5a2b-459e-46c9-9818-cc8a71465b1f g.chr17:77914763C>T uc002jxj.2 - 12 2315 c.2199G>A c.(2197-2199)GAG>GAA p.E733E uc002jxg.1_5'Flank|TBC1D16_uc002jxh.2_Silent_p.E371E|TBC1D16_uc002jxi.2_Silent_p.E358E NM_019020 NP_061893 Q8TBP0 TBC16_HUMAN TBC1 domain family, member 16 733 intracellular Rab GTPase activator activity 0 all_neural(118;0.167) OV - Ovarian serous cystadenocarcinoma(97;0.00739)|BRCA - Breast invasive adenocarcinoma(99;0.0819) AGGGACAGCTCTCCGAGCCGG 0.672 10 7 --- --- --- --- PASS DTNA 1837 broad.mit.edu 37 18 32455309 32455309 + Missense_Mutation SNP C T T TCGA-46-6026-01A-11D-1817-08 TCGA-46-6026-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 42a4a60c-257e-4bf6-a9ba-6f162dbca94a ca8e5a2b-459e-46c9-9818-cc8a71465b1f g.chr18:32455309C>T uc010dmn.1 + 17 1770 c.1769C>T c.(1768-1770)CCG>CTG p.P590L DTNA_uc002kxw.2_Missense_Mutation_p.P533L|DTNA_uc010dmj.2_Missense_Mutation_p.P530L|DTNA_uc002kxz.2_Missense_Mutation_p.P537L|DTNA_uc002kxy.2_Missense_Mutation_p.P530L|DTNA_uc010xby.1_Missense_Mutation_p.P280L|DTNA_uc010xbz.1_Missense_Mutation_p.P299L|DTNA_uc010xca.1_Missense_Mutation_p.P242L|DTNA_uc002kye.2_Missense_Mutation_p.P238L NM_001390 NP_001381 Q9Y4J8 DTNA_HUMAN dystrobrevin alpha isoform 1 590 neuromuscular synaptic transmission|signal transduction|striated muscle contraction cell junction|cytoplasm|synapse calcium ion binding|protein binding|zinc ion binding 0 ACGCACACGCCGCAGGACTCC 0.572 40 21 --- --- --- --- PASS SETBP1 26040 broad.mit.edu 37 18 42531485 42531485 + Missense_Mutation SNP G T T TCGA-46-6026-01A-11D-1817-08 TCGA-46-6026-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 42a4a60c-257e-4bf6-a9ba-6f162dbca94a ca8e5a2b-459e-46c9-9818-cc8a71465b1f g.chr18:42531485G>T uc010dni.2 + 4 2476 c.2180G>T c.(2179-2181)CGG>CTG p.R727L NM_015559 NP_056374 Q9Y6X0 SETBP_HUMAN SET binding protein 1 isoform a 727 nucleus DNA binding upper_aerodigestive_tract(2)|large_intestine(1) 3 Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201) GGCAAGAAGCGGGGCAGGAAG 0.582 Schinzel-Giedion_syndrome 11 40 --- --- --- --- PASS RTTN 25914 broad.mit.edu 37 18 67795714 67795714 + Missense_Mutation SNP G C C TCGA-46-6026-01A-11D-1817-08 TCGA-46-6026-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 42a4a60c-257e-4bf6-a9ba-6f162dbca94a ca8e5a2b-459e-46c9-9818-cc8a71465b1f g.chr18:67795714G>C uc002lkp.2 - 24 3091 c.3023C>G c.(3022-3024)TCT>TGT p.S1008C RTTN_uc002lko.2_RNA|RTTN_uc010xfb.1_Missense_Mutation_p.S96C NM_173630 NP_775901 Q86VV8 RTTN_HUMAN rotatin 1008 binding ovary(3)|pancreas(2)|skin(1)|breast(1)|central_nervous_system(1) 8 Esophageal squamous(42;0.129) ACAATCAGCAGATAAGGGCAA 0.403 16 58 --- --- --- --- PASS MBP 4155 broad.mit.edu 37 18 74696745 74696745 + Missense_Mutation SNP T C C TCGA-46-6026-01A-11D-1817-08 TCGA-46-6026-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 42a4a60c-257e-4bf6-a9ba-6f162dbca94a ca8e5a2b-459e-46c9-9818-cc8a71465b1f g.chr18:74696745T>C uc010xfd.1 - 8 1120 c.856A>G c.(856-858)AAA>GAA p.K286E MBP_uc002lml.2_Missense_Mutation_p.K179E|MBP_uc002lmn.2_Missense_Mutation_p.K168E|MBP_uc002lmp.2_Missense_Mutation_p.K142E|MBP_uc010xfe.1_3'UTR|MBP_uc010dqz.2_RNA NM_001025101 NP_001020272 P02686 MBP_HUMAN Golli-mbp isoform 1 286 central nervous system development|immune response|synaptic transmission plasma membrane structural constituent of myelin sheath haematopoietic_and_lymphoid_tissue(1) 1 Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211) OV - Ovarian serous cystadenocarcinoma(15;1.79e-06)|BRCA - Breast invasive adenocarcinoma(31;0.113)|READ - Rectum adenocarcinoma(1;0.188) TTAAAAATTTTGGAAAGCGTG 0.557 26 69 --- --- --- --- PASS GRIN3B 116444 broad.mit.edu 37 19 1003150 1003150 + Missense_Mutation SNP C T T TCGA-46-6026-01A-11D-1817-08 TCGA-46-6026-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 42a4a60c-257e-4bf6-a9ba-6f162dbca94a ca8e5a2b-459e-46c9-9818-cc8a71465b1f g.chr19:1003150C>T uc002lqo.1 + 2 448 c.448C>T c.(448-450)CAC>TAC p.H150Y NM_138690 NP_619635 O60391 NMD3B_HUMAN glutamate receptor, ionotropic, 150 Extracellular (Potential). ionotropic glutamate receptor signaling pathway|protein insertion into membrane|regulation of calcium ion transport cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|glycine binding|ionotropic glutamate receptor activity|neurotransmitter receptor activity 0 Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000226)|all_lung(49;0.000353)|Breast(49;0.00066) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) Glycine(DB00145)|L-Glutamic Acid(DB00142)|Orphenadrine(DB01173) CCTGCAGCTGCACTGGGCCAG 0.677 18 8 --- --- --- --- PASS OR1M1 125963 broad.mit.edu 37 19 9204149 9204149 + Missense_Mutation SNP A G G TCGA-46-6026-01A-11D-1817-08 TCGA-46-6026-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 42a4a60c-257e-4bf6-a9ba-6f162dbca94a ca8e5a2b-459e-46c9-9818-cc8a71465b1f g.chr19:9204149A>G uc010xkj.1 + 1 229 c.229A>G c.(229-231)ACC>GCC p.T77A NM_001004456 NP_001004456 Q8NGA1 OR1M1_HUMAN olfactory receptor, family 1, subfamily M, 77 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(3) 3 GGCCACCAACACCATCCCTAA 0.532 21 100 --- --- --- --- PASS ZNF700 90592 broad.mit.edu 37 19 12058351 12058351 + Silent SNP C T T TCGA-46-6026-01A-11D-1817-08 TCGA-46-6026-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 42a4a60c-257e-4bf6-a9ba-6f162dbca94a ca8e5a2b-459e-46c9-9818-cc8a71465b1f g.chr19:12058351C>T uc002msu.2 + 3 339 c.213C>T c.(211-213)AAC>AAT p.N71N ZNF700_uc010xme.1_Silent_p.N89N|ZNF763_uc010xmf.1_Intron NM_144566 NP_653167 Q9H0M5 ZN700_HUMAN zinc finger protein 700 71 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 GTGACCAGAACATTGAATATG 0.343 87 43 --- --- --- --- PASS ZNF44 51710 broad.mit.edu 37 19 12383498 12383498 + Missense_Mutation SNP C A A TCGA-46-6026-01A-11D-1817-08 TCGA-46-6026-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 42a4a60c-257e-4bf6-a9ba-6f162dbca94a ca8e5a2b-459e-46c9-9818-cc8a71465b1f g.chr19:12383498C>A uc010xmj.1 - 5 1921 c.1716G>T c.(1714-1716)AGG>AGT p.R572S ZNF44_uc002mtl.2_Intron|ZNF44_uc010dyr.1_Intron|ZNF44_uc010xmi.1_RNA|ZNF44_uc002mtn.3_RNA|ZNF44_uc010dys.2_Missense_Mutation_p.R524S NM_001164276 NP_001157748 P15621 ZNF44_HUMAN zinc finger protein 44 isoform 1 572 C2H2-type 14. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|microtubule cytoskeleton|nucleus DNA binding|protein binding|zinc ion binding ovary(1) 1 Renal(1328;0.157) GBM - Glioblastoma multiforme(1328;0.0164)|Lung(535;0.179) CCGTGTGAGTCCTTTCATGAG 0.408 8 63 --- --- --- --- PASS GCDH 2639 broad.mit.edu 37 19 13002940 13002940 + Silent SNP G A A TCGA-46-6026-01A-11D-1817-08 TCGA-46-6026-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 42a4a60c-257e-4bf6-a9ba-6f162dbca94a ca8e5a2b-459e-46c9-9818-cc8a71465b1f g.chr19:13002940G>A uc002mvq.2 + 5 359 c.282G>A c.(280-282)CGG>CGA p.R94R GCDH_uc010xms.1_Intron|GCDH_uc002mvp.2_Silent_p.R94R|GCDH_uc010xmt.1_5'UTR|GCDH_uc010xmu.1_Intron NM_000159 NP_000150 Q92947 GCDH_HUMAN glutaryl-Coenzyme A dehydrogenase isoform a 94 R -> L (in GA1). lysine catabolic process mitochondrial matrix flavin adenine dinucleotide binding|glutaryl-CoA dehydrogenase activity|protein binding 0 TTTTTCATCGGGAGATCATTT 0.572 26 95 --- --- --- --- PASS FARSA 2193 broad.mit.edu 37 19 13039467 13039467 + Missense_Mutation SNP G A A TCGA-46-6026-01A-11D-1817-08 TCGA-46-6026-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 42a4a60c-257e-4bf6-a9ba-6f162dbca94a ca8e5a2b-459e-46c9-9818-cc8a71465b1f g.chr19:13039467G>A uc002mvs.2 - 6 655 c.607C>T c.(607-609)CGG>TGG p.R203W FARSA_uc002mvt.2_RNA|FARSA_uc010xmv.1_Missense_Mutation_p.R172W|FARSA_uc010dyy.1_Missense_Mutation_p.R124W NM_004461 NP_004452 Q9Y285 SYFA_HUMAN phenylalanyl-tRNA synthetase, alpha subunit 203 phenylalanyl-tRNA aminoacylation cytosol|soluble fraction ATP binding|phenylalanine-tRNA ligase activity|protein binding|tRNA binding ovary(1) 1 L-Phenylalanine(DB00120) GGCCGGTCCCGCCAAGAGCCA 0.687 24 13 --- --- --- --- PASS RASAL3 64926 broad.mit.edu 37 19 15565328 15565328 + Silent SNP C T T TCGA-46-6026-01A-11D-1817-08 TCGA-46-6026-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 42a4a60c-257e-4bf6-a9ba-6f162dbca94a ca8e5a2b-459e-46c9-9818-cc8a71465b1f g.chr19:15565328C>T uc002nbe.2 - 13 2090 c.2004G>A c.(2002-2004)CTG>CTA p.L668L RASAL3_uc002nbd.2_Silent_p.L8L|RASAL3_uc010eaa.1_Silent_p.L156L NM_022904 NP_075055 Q86YV0 RASL3_HUMAN RAS protein activator like 3 668 negative regulation of Ras protein signal transduction|signal transduction cytoplasm|intrinsic to internal side of plasma membrane Ras GTPase activator activity 0 CATGTTCCTCCAGGAAGCTAT 0.607 OREG0025322 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 17 182 --- --- --- --- PASS ZNF208 7757 broad.mit.edu 37 19 22156530 22156530 + Missense_Mutation SNP A T T TCGA-46-6026-01A-11D-1817-08 TCGA-46-6026-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 42a4a60c-257e-4bf6-a9ba-6f162dbca94a ca8e5a2b-459e-46c9-9818-cc8a71465b1f g.chr19:22156530A>T uc002nqp.2 - 4 1455 c.1306T>A c.(1306-1308)TGG>AGG p.W436R ZNF208_uc002nqo.1_Intron|ZNF208_uc010ecw.1_5'Flank NM_007153 NP_009084 zinc finger protein 208 ovary(5)|skin(2) 7 all_lung(12;0.0961)|Lung NSC(12;0.103) TTTGAGGACCAGTTGAAAGCT 0.388 26 115 --- --- --- --- PASS FAM187B 148109 broad.mit.edu 37 19 35719356 35719356 + Silent SNP G A A rs146665895 TCGA-46-6026-01A-11D-1817-08 TCGA-46-6026-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 42a4a60c-257e-4bf6-a9ba-6f162dbca94a ca8e5a2b-459e-46c9-9818-cc8a71465b1f g.chr19:35719356G>A uc002nyk.1 - 1 273 c.228C>T c.(226-228)CCC>CCT p.P76P NM_152481 NP_689694 Q17R55 F187B_HUMAN family with sequence similarity 187, member B 76 Extracellular (Potential). integral to membrane ovary(2) 2 GGCTGCCCTCGGGCATTATTT 0.507 46 39 --- --- --- --- PASS FAM187B 148109 broad.mit.edu 37 19 35719440 35719440 + Silent SNP C A A TCGA-46-6026-01A-11D-1817-08 TCGA-46-6026-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 42a4a60c-257e-4bf6-a9ba-6f162dbca94a ca8e5a2b-459e-46c9-9818-cc8a71465b1f g.chr19:35719440C>A uc002nyk.1 - 1 189 c.144G>T c.(142-144)GGG>GGT p.G48G NM_152481 NP_689694 Q17R55 F187B_HUMAN family with sequence similarity 187, member B 48 Extracellular (Potential). integral to membrane ovary(2) 2 ACCAGTGCGCCCCCGAGGAGT 0.512 35 40 --- --- --- --- PASS ZFP30 22835 broad.mit.edu 37 19 38127106 38127106 + Silent SNP A G G TCGA-46-6026-01A-11D-1817-08 TCGA-46-6026-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 42a4a60c-257e-4bf6-a9ba-6f162dbca94a ca8e5a2b-459e-46c9-9818-cc8a71465b1f g.chr19:38127106A>G uc002ogv.1 - 6 852 c.336T>C c.(334-336)TGT>TGC p.C112C ZFP30_uc002ogw.1_Silent_p.C112C|ZFP30_uc002ogx.1_Silent_p.C112C|ZFP30_uc010xtt.1_Silent_p.C111C NM_014898 NP_055713 Q9Y2G7 ZFP30_HUMAN zinc finger protein 30 homolog 112 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) CTTCAAGTCCACAGCTTTTAA 0.353 14 44 --- --- --- --- PASS PSG2 5670 broad.mit.edu 37 19 43575978 43575978 + Nonsense_Mutation SNP G A A TCGA-46-6026-01A-11D-1817-08 TCGA-46-6026-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 42a4a60c-257e-4bf6-a9ba-6f162dbca94a ca8e5a2b-459e-46c9-9818-cc8a71465b1f g.chr19:43575978G>A uc002ovr.2 - 4 931 c.838C>T c.(838-840)CAG>TAG p.Q280* PSG6_uc002ovi.2_Intron|PSG6_uc010xwk.1_Intron|PSG2_uc002ovq.3_Nonsense_Mutation_p.Q280*|PSG2_uc010eiq.1_Nonsense_Mutation_p.Q280*|PSG2_uc002ovs.3_Nonsense_Mutation_p.Q280*|PSG2_uc002ovt.3_Nonsense_Mutation_p.Q280* NM_031246 NP_112536 P11465 PSG2_HUMAN pregnancy specific beta-1-glycoprotein 2 280 Ig-like C2-type 2. cell migration|female pregnancy extracellular region 0 Prostate(69;0.00682) CCTGATTGCTGAAACTTCCCA 0.448 106 70 --- --- --- --- PASS PSG2 5670 broad.mit.edu 37 19 43576022 43576022 + Missense_Mutation SNP G C C TCGA-46-6026-01A-11D-1817-08 TCGA-46-6026-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 42a4a60c-257e-4bf6-a9ba-6f162dbca94a ca8e5a2b-459e-46c9-9818-cc8a71465b1f g.chr19:43576022G>C uc002ovr.2 - 4 887 c.794C>G c.(793-795)TCT>TGT p.S265C PSG6_uc002ovi.2_Intron|PSG6_uc010xwk.1_Intron|PSG2_uc002ovq.3_Missense_Mutation_p.S265C|PSG2_uc010eiq.1_Missense_Mutation_p.S265C|PSG2_uc002ovs.3_Missense_Mutation_p.S265C|PSG2_uc002ovt.3_Missense_Mutation_p.S265C NM_031246 NP_112536 P11465 PSG2_HUMAN pregnancy specific beta-1-glycoprotein 2 265 Ig-like C2-type 2. cell migration|female pregnancy extracellular region 0 Prostate(69;0.00682) CGGTGGGTTAGAGTTCGCGAA 0.453 98 79 --- --- --- --- PASS PPP1R13L 10848 broad.mit.edu 37 19 45885788 45885788 + Silent SNP G A A TCGA-46-6026-01A-11D-1817-08 TCGA-46-6026-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 42a4a60c-257e-4bf6-a9ba-6f162dbca94a ca8e5a2b-459e-46c9-9818-cc8a71465b1f g.chr19:45885788G>A uc002pbn.2 - 12 2522 c.2445C>T c.(2443-2445)TTC>TTT p.F815F PPP1R13L_uc002pbm.2_Silent_p.F394F|PPP1R13L_uc002pbo.2_Silent_p.F815F NM_006663 NP_006654 Q8WUF5 IASPP_HUMAN protein phosphatase 1, regulatory subunit 13 815 SH3. apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus transcription corepressor activity|transcription factor binding skin(1) 1 all_neural(266;0.224)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.0182) GGCTCACCCCGAAGTAGTTCC 0.657 42 24 --- --- --- --- PASS SPIB 6689 broad.mit.edu 37 19 50926910 50926910 + Missense_Mutation SNP G C C TCGA-46-6026-01A-11D-1817-08 TCGA-46-6026-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 42a4a60c-257e-4bf6-a9ba-6f162dbca94a ca8e5a2b-459e-46c9-9818-cc8a71465b1f g.chr19:50926910G>C uc002psd.2 + 5 413 c.388G>C c.(388-390)GAG>CAG p.E130Q SPIB_uc002pse.2_Missense_Mutation_p.E130Q|SPIB_uc010ycc.1_Missense_Mutation_p.E39Q NM_003121 NP_003112 Q01892 SPIB_HUMAN Spi-B transcription factor (Spi-1/PU.1 related) 130 regulation of transcription from RNA polymerase II promoter cytoplasm|microtubule cytoskeleton|nucleus sequence-specific DNA binding lung(1)|kidney(1) 2 all_neural(266;0.131) OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186) TGTGCTATCAGAGGAGGAAGA 0.657 7 17 --- --- --- --- PASS LILRA5 353514 broad.mit.edu 37 19 54822833 54822833 + Missense_Mutation SNP T A A TCGA-46-6026-01A-11D-1817-08 TCGA-46-6026-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 42a4a60c-257e-4bf6-a9ba-6f162dbca94a ca8e5a2b-459e-46c9-9818-cc8a71465b1f g.chr19:54822833T>A uc002qfe.2 - 5 683 c.563A>T c.(562-564)CAG>CTG p.Q188L LILRA5_uc002qff.2_Missense_Mutation_p.Q176L|LILRA5_uc010yev.1_Missense_Mutation_p.Q188L|LILRA5_uc010yew.1_Missense_Mutation_p.Q176L|LILRA5_uc002qfh.1_Missense_Mutation_p.Q176L|LILRA5_uc002qfg.1_Missense_Mutation_p.Q188L NM_021250 NP_067073 A6NI73 LIRA5_HUMAN leukocyte immunoglobulin-like receptor subfamily 188 Extracellular (Potential).|Ig-like C2-type 2. innate immune response extracellular region|integral to membrane receptor activity upper_aerodigestive_tract(1) 1 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) GGGGGTCAGCTGTGAGTCCAA 0.597 34 22 --- --- --- --- PASS LILRA4 23547 broad.mit.edu 37 19 54845234 54845234 + Missense_Mutation SNP C T T TCGA-46-6026-01A-11D-1817-08 TCGA-46-6026-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 42a4a60c-257e-4bf6-a9ba-6f162dbca94a ca8e5a2b-459e-46c9-9818-cc8a71465b1f g.chr19:54845234C>T uc002qfj.2 - 7 1315 c.1258G>A c.(1258-1260)GCA>ACA p.A420T LILRA4_uc002qfi.2_Missense_Mutation_p.A354T NM_012276 NP_036408 P59901 LIRA4_HUMAN leukocyte immunoglobulin-like receptor subfamily 420 Extracellular (Potential). integral to membrane receptor activity upper_aerodigestive_tract(1)|central_nervous_system(1) 2 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.0565) GTCTCAGTTGCTCCTAAGAAT 0.488 43 25 --- --- --- --- PASS LENG8 114823 broad.mit.edu 37 19 54963343 54963343 + Missense_Mutation SNP G A A TCGA-46-6026-01A-11D-1817-08 TCGA-46-6026-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 42a4a60c-257e-4bf6-a9ba-6f162dbca94a ca8e5a2b-459e-46c9-9818-cc8a71465b1f g.chr19:54963343G>A uc002qfv.1 + 3 256 c.112G>A c.(112-114)GAG>AAG p.E38K LENG8_uc002qfw.2_Missense_Mutation_p.E38K Q96PV6 LENG8_HUMAN RecName: Full=Leukocyte receptor cluster member 8; 38 protein binding central_nervous_system(1)|pancreas(1) 2 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.139) CGAGAACCCGGAGTGGGAGAA 0.627 20 57 --- --- --- --- PASS RDH13 112724 broad.mit.edu 37 19 55558804 55558804 + Silent SNP C A A TCGA-46-6026-01A-11D-1817-08 TCGA-46-6026-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 42a4a60c-257e-4bf6-a9ba-6f162dbca94a ca8e5a2b-459e-46c9-9818-cc8a71465b1f g.chr19:55558804C>A uc002qio.3 - 6 896 c.711G>T c.(709-711)CTG>CTT p.L237L RDH13_uc002qip.2_Silent_p.L166L|RDH13_uc010esr.1_RNA NM_001145971 NP_001139443 Q8NBN7 RDH13_HUMAN retinol dehydrogenase 13 isoform 1 237 binding|oxidoreductase activity large_intestine(1)|ovary(1)|skin(1) 3 BRCA - Breast invasive adenocarcinoma(297;0.199) GBM - Glioblastoma multiforme(193;0.0504) Vitamin A(DB00162) TGTGTCTGCCCAGCTCTGTCC 0.647 19 13 --- --- --- --- PASS ZNF776 284309 broad.mit.edu 37 19 58266005 58266005 + Missense_Mutation SNP C G G TCGA-46-6026-01A-11D-1817-08 TCGA-46-6026-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 42a4a60c-257e-4bf6-a9ba-6f162dbca94a ca8e5a2b-459e-46c9-9818-cc8a71465b1f g.chr19:58266005C>G uc002qpx.2 + 3 1730 c.1507C>G c.(1507-1509)CTC>GTC p.L503V ZNF587_uc002qqb.2_Intron|ZNF776_uc002qqa.2_Missense_Mutation_p.L503V NM_173632 NP_775903 Q68DI1 ZN776_HUMAN zinc finger protein 776 503 C2H2-type 11. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0256) AAAGGGAAACCTCATTAAACA 0.423 31 35 --- --- --- --- PASS ZSCAN18 65982 broad.mit.edu 37 19 58596227 58596227 + Missense_Mutation SNP C A A TCGA-46-6026-01A-11D-1817-08 TCGA-46-6026-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 42a4a60c-257e-4bf6-a9ba-6f162dbca94a ca8e5a2b-459e-46c9-9818-cc8a71465b1f g.chr19:58596227C>A uc002qri.2 - 7 1667 c.1358G>T c.(1357-1359)AGC>ATC p.S453I ZSCAN18_uc002qrj.3_Missense_Mutation_p.S452I|ZSCAN18_uc010yhs.1_Missense_Mutation_p.S317I|ZSCAN18_uc002qrh.2_Missense_Mutation_p.S453I|ZSCAN18_uc010yht.1_Missense_Mutation_p.S509I|ZSCAN18_uc002qrk.1_3'UTR|ZSCAN18_uc002qrl.2_3'UTR NM_001145543 NP_001139015 Q8TBC5 ZSC18_HUMAN zinc finger and SCAN domain containing 18 453 C2H2-type 2. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152) TAGGGCCAGGCTGAAGTGGAA 0.687 6 6 --- --- --- --- PASS PROKR2 128674 broad.mit.edu 37 20 5294818 5294818 + Silent SNP G A A TCGA-46-6026-01A-11D-1817-08 TCGA-46-6026-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 42a4a60c-257e-4bf6-a9ba-6f162dbca94a ca8e5a2b-459e-46c9-9818-cc8a71465b1f g.chr20:5294818G>A uc010zqw.1 - 1 198 c.198C>T c.(196-198)GTC>GTT p.V66V PROKR2_uc010zqx.1_Silent_p.V66V|PROKR2_uc010zqy.1_Silent_p.V66V|uc002wly.1_5'Flank NM_144773 NP_658986 Q8NFJ6 PKR2_HUMAN prokineticin receptor 2 66 Helical; Name=1; (Potential). integral to membrane|plasma membrane neuropeptide Y receptor activity ovary(3)|central_nervous_system(1)|pancreas(1) 5 CGATGCCGCAGACCAGCATGA 0.537 HNSCC(71;0.22) 69 54 --- --- --- --- PASS PHF20 51230 broad.mit.edu 37 20 34501238 34501238 + Silent SNP G A A TCGA-46-6026-01A-11D-1817-08 TCGA-46-6026-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 42a4a60c-257e-4bf6-a9ba-6f162dbca94a ca8e5a2b-459e-46c9-9818-cc8a71465b1f g.chr20:34501238G>A uc002xek.1 + 11 1740 c.1629G>A c.(1627-1629)AAG>AAA p.K543K PHF20_uc002xei.1_Silent_p.K543K|PHF20_uc010gfo.1_Silent_p.K543K|PHF20_uc002xej.1_Silent_p.K427K NM_016436 NP_057520 Q9BVI0 PHF20_HUMAN PHD finger protein 20 543 Lys-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent MLL1 complex DNA binding|zinc ion binding ovary(1) 1 Breast(12;0.00631)|all_lung(11;0.0145) agccaaagaagaaaaagaaaa 0.224 16 15 --- --- --- --- PASS SALL4 57167 broad.mit.edu 37 20 50400992 50400992 + Missense_Mutation SNP T G G TCGA-46-6026-01A-11D-1817-08 TCGA-46-6026-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 42a4a60c-257e-4bf6-a9ba-6f162dbca94a ca8e5a2b-459e-46c9-9818-cc8a71465b1f g.chr20:50400992T>G uc002xwh.3 - 4 3075 c.2974A>C c.(2974-2976)AGT>CGT p.S992R SALL4_uc010gii.2_Missense_Mutation_p.S555R|SALL4_uc002xwi.3_Missense_Mutation_p.S215R NM_020436 NP_065169 Q9UJQ4 SALL4_HUMAN sal-like 4 992 transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 ACCCCCCCACTCTGGATCACA 0.577 61 51 --- --- --- --- PASS RTEL1 51750 broad.mit.edu 37 20 62322277 62322277 + Missense_Mutation SNP G T T TCGA-46-6026-01A-11D-1817-08 TCGA-46-6026-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 42a4a60c-257e-4bf6-a9ba-6f162dbca94a ca8e5a2b-459e-46c9-9818-cc8a71465b1f g.chr20:62322277G>T uc002yfu.1 + 27 2876 c.2533G>T c.(2533-2535)GCG>TCG p.A845S RTEL1_uc011abc.1_RNA|RTEL1_uc002yft.1_Missense_Mutation_p.A845S|RTEL1_uc011abd.1_Missense_Mutation_p.A869S|RTEL1_uc011abe.1_Missense_Mutation_p.A622S|RTEL1_uc002yfw.2_RNA|RTEL1_uc002yfx.1_Missense_Mutation_p.A90S NM_016434 NP_057518 Q9NZ71 RTEL1_HUMAN regulator of telomere elongation helicase 1 845 A -> V (in Ref. 4; BAG63785). DNA repair|regulation of double-strand break repair via homologous recombination|telomere maintenance nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding 0 all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13) Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107) CGAACAGCGGGCGGGGAGCCC 0.682 4 6 --- --- --- --- PASS TPTE 7179 broad.mit.edu 37 21 10969127 10969127 + Missense_Mutation SNP G A A TCGA-46-6026-01A-11D-1817-08 TCGA-46-6026-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 42a4a60c-257e-4bf6-a9ba-6f162dbca94a ca8e5a2b-459e-46c9-9818-cc8a71465b1f g.chr21:10969127G>A uc002yip.1 - 7 489 c.121C>T c.(121-123)CCA>TCA p.P41S TPTE_uc002yis.1_Intron|TPTE_uc002yiq.1_Intron|TPTE_uc002yir.1_Intron|TPTE_uc010gkv.1_Intron NM_199261 NP_954870 P56180 TPTE_HUMAN transmembrane phosphatase with tensin homology 41 signal transduction integral to membrane ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity ovary(2)|lung(1)|breast(1)|skin(1) 5 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) CTTGTGTGTGGGCTAGAGGAT 0.269 13 146 --- --- --- --- PASS CELSR1 9620 broad.mit.edu 37 22 46930324 46930324 + Missense_Mutation SNP G C C TCGA-46-6026-01A-11D-1817-08 TCGA-46-6026-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 42a4a60c-257e-4bf6-a9ba-6f162dbca94a ca8e5a2b-459e-46c9-9818-cc8a71465b1f g.chr22:46930324G>C uc003bhw.1 - 1 2744 c.2744C>G c.(2743-2745)TCT>TGT p.S915C NM_014246 NP_055061 Q9NYQ6 CELR1_HUMAN cadherin EGF LAG seven-pass G-type receptor 1 915 Extracellular (Potential).|Cadherin 7. central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway integral to plasma membrane calcium ion binding|G-protein coupled receptor activity|protein dimerization activity lung(4)|breast(4)|pancreas(2)|skin(1) 11 Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766) UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171) GTCCGTGGCAGAGACCTGGAG 0.597 15 12 --- --- --- --- PASS CELSR1 9620 broad.mit.edu 37 22 46930352 46930352 + Missense_Mutation SNP G A A TCGA-46-6026-01A-11D-1817-08 TCGA-46-6026-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 42a4a60c-257e-4bf6-a9ba-6f162dbca94a ca8e5a2b-459e-46c9-9818-cc8a71465b1f g.chr22:46930352G>A uc003bhw.1 - 1 2716 c.2716C>T c.(2716-2718)CCA>TCA p.P906S NM_014246 NP_055061 Q9NYQ6 CELR1_HUMAN cadherin EGF LAG seven-pass G-type receptor 1 906 Extracellular (Potential).|Cadherin 7. central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway integral to plasma membrane calcium ion binding|G-protein coupled receptor activity|protein dimerization activity lung(4)|breast(4)|pancreas(2)|skin(1) 11 Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766) UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171) GTCGAGGGTGGAGCATCCTCA 0.587 8 14 --- --- --- --- PASS OFD1 8481 broad.mit.edu 37 X 13778539 13778539 + Missense_Mutation SNP C T T TCGA-46-6026-01A-11D-1817-08 TCGA-46-6026-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 42a4a60c-257e-4bf6-a9ba-6f162dbca94a ca8e5a2b-459e-46c9-9818-cc8a71465b1f g.chrX:13778539C>T uc004cvp.3 + 16 2319 c.1960C>T c.(1960-1962)CGG>TGG p.R654W OFD1_uc004cvr.3_Missense_Mutation_p.R221W|OFD1_uc011mil.1_Missense_Mutation_p.R221W|OFD1_uc004cvq.3_Missense_Mutation_p.R514W|OFD1_uc010nen.2_Missense_Mutation_p.R653W|OFD1_uc004cvs.3_RNA|OFD1_uc004cvu.3_Missense_Mutation_p.R613W|OFD1_uc004cvv.3_Missense_Mutation_p.R613W NM_003611 NP_003602 O75665 OFD1_HUMAN oral-facial-digital syndrome 1 654 Potential.|Mediates the interaction with SDCCAG8.|Mediates homooligomerization. cilium movement involved in determination of left/right asymmetry|G2/M transition of mitotic cell cycle centriole|cilium|cytosol|microtubule basal body|nuclear membrane alpha-tubulin binding|gamma-tubulin binding 0 AAGTTACCATCGGAGAGTCAT 0.478 34 5 --- --- --- --- PASS MED14 9282 broad.mit.edu 37 X 40551537 40551537 + Silent SNP C T T TCGA-46-6026-01A-11D-1817-08 TCGA-46-6026-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 42a4a60c-257e-4bf6-a9ba-6f162dbca94a ca8e5a2b-459e-46c9-9818-cc8a71465b1f g.chrX:40551537C>T uc004dex.3 - 15 2018 c.1878G>A c.(1876-1878)AAG>AAA p.K626K NM_004229 NP_004220 O60244 MED14_HUMAN mediator complex subunit 14 626 Interaction with SREBF1. androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding breast(2)|kidney(1)|skin(1) 4 GTTTTGTTTTCTTGGATTCTA 0.353 24 1 --- --- --- --- PASS SHROOM4 57477 broad.mit.edu 37 X 50341344 50341344 + Silent SNP C A A TCGA-46-6026-01A-11D-1817-08 TCGA-46-6026-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 42a4a60c-257e-4bf6-a9ba-6f162dbca94a ca8e5a2b-459e-46c9-9818-cc8a71465b1f g.chrX:50341344C>A uc004dpe.2 - 8 4160 c.4134G>T c.(4132-4134)CTG>CTT p.L1378L SHROOM4_uc004dpd.3_RNA NM_020717 NP_065768 Q9ULL8 SHRM4_HUMAN shroom family member 4 1378 ASD2. actin filament organization|brain development|cell morphogenesis|cognition apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus actin filament binding upper_aerodigestive_tract(1) 1 Ovarian(276;0.236) GTGACAGCAACAGGTTGACCA 0.522 33 1 --- --- --- --- PASS FLNA 2316 broad.mit.edu 37 X 153594531 153594531 + Silent SNP T C C TCGA-46-6026-01A-11D-1817-08 TCGA-46-6026-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 42a4a60c-257e-4bf6-a9ba-6f162dbca94a ca8e5a2b-459e-46c9-9818-cc8a71465b1f g.chrX:153594531T>C uc004fkk.2 - 9 1539 c.1290A>G c.(1288-1290)GTA>GTG p.V430V FLNA_uc010nuu.1_Silent_p.V430V NM_001110556 NP_001104026 P21333 FLNA_HUMAN filamin A, alpha isoform 2 430 Filamin 2. actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering cell cortex|cytosol|extracellular region|nucleus|plasma membrane actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding breast(6) 6 all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) GCTGAGGCTCTACCGTGCCCT 0.682 34 3 --- --- --- --- PASS PBX1 5087 broad.mit.edu 37 1 164761842 164761850 + In_Frame_Del DEL CGGCGGCAG - - TCGA-46-6026-01A-11D-1817-08 TCGA-46-6026-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 42a4a60c-257e-4bf6-a9ba-6f162dbca94a ca8e5a2b-459e-46c9-9818-cc8a71465b1f g.chr1:164761842_164761850delCGGCGGCAG uc001gct.2 + 3 635_643 c.377_385delCGGCGGCAG c.(376-387)TCGGCGGCAGCG>TCG p.AAA133del PBX1_uc010pku.1_In_Frame_Del_p.AAA133del|PBX1_uc010pkv.1_In_Frame_Del_p.AAA50del|PBX1_uc001gcs.2_In_Frame_Del_p.AAA133del|PBX1_uc010pkw.1_In_Frame_Del_p.AAA23del NM_002585 NP_002576 P40424 PBX1_HUMAN pre-B-cell leukemia homeobox 1 133_135 Poly-Ala. negative regulation of sequence-specific DNA binding transcription factor activity|sex differentiation|steroid biosynthetic process cytoplasm|nucleus sequence-specific DNA binding transcription factor activity|transcription factor binding EWSR1/PBX1(3) soft_tissue(3)|lung(1)|skin(1) 5 GGCGGAGGGTcggcggcagcggcggcagc 0.502 T TCF3|EWSR1 pre B-ALL|myoepithelioma 39 29 --- --- --- --- TACR1 6869 broad.mit.edu 37 2 75278458 75278459 + Frame_Shift_Ins INS - T T TCGA-46-6026-01A-11D-1817-08 TCGA-46-6026-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 42a4a60c-257e-4bf6-a9ba-6f162dbca94a ca8e5a2b-459e-46c9-9818-cc8a71465b1f g.chr2:75278458_75278459insT uc002sng.2 - 4 1436_1437 c.851_852insA c.(850-852)CAGfs p.Q284fs TACR1_uc002snh.2_Frame_Shift_Ins_p.Q284fs NM_001058 NP_001049 P25103 NK1R_HUMAN tachykinin receptor 1 isoform long 284 Helical; Name=7; (Potential). activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|detection of abiotic stimulus|mechanosensory behavior integral to plasma membrane protein binding ovary(1) 1 Aprepitant(DB00673)|Ketamine(DB01221)|Vapreotide(DB04894) GGTAGACCTGCTGGATAAACTT 0.540 65 112 --- --- --- --- MUC20 200958 broad.mit.edu 37 3 195452664 195452664 + Frame_Shift_Del DEL C - - TCGA-46-6026-01A-11D-1817-08 TCGA-46-6026-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 42a4a60c-257e-4bf6-a9ba-6f162dbca94a ca8e5a2b-459e-46c9-9818-cc8a71465b1f g.chr3:195452664delC uc010hzo.2 + 3 803 c.677delC c.(676-678)ACCfs p.T226fs MUC20_uc010hzp.2_Frame_Shift_Del_p.T191fs|MUC20_uc011bte.1_RNA NM_152673 NP_689886 Q8N307 MUC20_HUMAN mucin 20 isoform L 397 12 X 20 AA approximate tandem repeats of S-S-E-S-S-A-S-S-D-S-P-H-P-V-I-T-P-S-R-A.|12; approximate. protein homooligomerization apical plasma membrane|basal plasma membrane|extracellular region|microvillus membrane 0 all_cancers(143;1.8e-08)|Ovarian(172;0.0634) Lung NSC(153;0.191) Epithelial(36;1e-21)|all cancers(36;9.02e-20)|OV - Ovarian serous cystadenocarcinoma(49;1.6e-18)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128) GBM - Glioblastoma multiforme(46;1.66e-05) CCAGTCATCACCCCCTCATGG 0.587 3 3 --- --- --- --- ZNF703 80139 broad.mit.edu 37 8 37553580 37553580 + Frame_Shift_Del DEL C - - TCGA-46-6026-01A-11D-1817-08 TCGA-46-6026-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 42a4a60c-257e-4bf6-a9ba-6f162dbca94a ca8e5a2b-459e-46c9-9818-cc8a71465b1f g.chr8:37553580delC uc003xjy.1 + 1 280 c.83delC c.(82-84)GCGfs p.A28fs NM_025069 NP_079345 Q9H7S9 ZN703_HUMAN zinc finger protein 703 28 adherens junction assembly|mammary gland epithelial cell differentiation|negative regulation of homotypic cell-cell adhesion|negative regulation of transcription, DNA-dependent|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of mammary gland epithelial cell proliferation|regulation of canonical Wnt receptor signaling pathway|regulation of cell cycle|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent cytoplasm|nucleus nucleic acid binding|protein binding|zinc ion binding breast(1)|pancreas(1) 2 BRCA - Breast invasive adenocarcinoma(5;7.93e-25)|LUSC - Lung squamous cell carcinoma(8;1.05e-09) AAGAGGCCGGCGGTGCCGGCA 0.582 4 2 --- --- --- --- LRIT2 340745 broad.mit.edu 37 10 85981876 85981876 + Frame_Shift_Del DEL C - - TCGA-46-6026-01A-11D-1817-08 TCGA-46-6026-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 42a4a60c-257e-4bf6-a9ba-6f162dbca94a ca8e5a2b-459e-46c9-9818-cc8a71465b1f g.chr10:85981876delC uc001kcy.2 - 3 1461 c.1453delG c.(1453-1455)GCAfs p.A485fs LRIT2_uc010qmc.1_Frame_Shift_Del_p.A495fs NM_001017924 NP_001017924 A6NDA9 LRIT2_HUMAN leucine rich repeat containing 22 precursor 485 Helical; (Potential). integral to membrane ovary(2) 2 CCCTGGGCTGCCCAGGCATAG 0.657 44 28 --- --- --- --- PPP1R3C 5507 broad.mit.edu 37 10 93390010 93390011 + Frame_Shift_Ins INS - A A TCGA-46-6026-01A-11D-1817-08 TCGA-46-6026-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 42a4a60c-257e-4bf6-a9ba-6f162dbca94a ca8e5a2b-459e-46c9-9818-cc8a71465b1f g.chr10:93390010_93390011insA uc001kho.2 - 2 759_760 c.627_628insT c.(625-630)GGTGGCfs p.G209fs NM_005398 NP_005389 Q9UQK1 PPR3C_HUMAN protein phosphatase 1, regulatory (inhibitor) 209_210 Interaction with EPM2A.|CBM21. protein serine/threonine phosphatase activity breast(1) 1 Colorectal(252;0.235) CTATCTGTGCCACCATACACAT 0.391 62 62 --- --- --- --- TP53 7157 broad.mit.edu 37 17 7577519 7577527 + In_Frame_Del DEL GATGGTGAG - - rs121912653 TCGA-46-6026-01A-11D-1817-08 TCGA-46-6026-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 42a4a60c-257e-4bf6-a9ba-6f162dbca94a ca8e5a2b-459e-46c9-9818-cc8a71465b1f g.chr17:7577519_7577527delGATGGTGAG uc002gim.2 - 7 948_956 c.754_762delCTCACCATC c.(754-762)CTCACCATCdel p.LTI252del TP53_uc002gig.1_In_Frame_Del_p.LTI252del|TP53_uc002gih.2_In_Frame_Del_p.LTI252del|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_In_Frame_Del_p.LTI120del|TP53_uc010cng.1_In_Frame_Del_p.LTI120del|TP53_uc002gii.1_In_Frame_Del_p.LTI120del|TP53_uc010cnh.1_In_Frame_Del_p.LTI252del|TP53_uc010cni.1_In_Frame_Del_p.LTI252del|TP53_uc002gij.2_In_Frame_Del_p.LTI252del|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_In_Frame_Del_p.LTI159del|TP53_uc002gio.2_In_Frame_Del_p.LTI120del NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 252_254 |Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). I -> L (in a sporadic cancer; somatic mutation).|I -> D (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|I -> F (in a sporadic cancer; somatic mutation).|I -> N (in sporadic cancers; somatic mutation).|I -> S (in sporadic cancers; somatic mutation).|I -> T (in sporadic cancers; somatic mutation).|I -> V (in sporadic cancers; somatic mutation).|I -> M (in a sporadic cancer; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.L252F(9)|p.I254F(7)|p.L252P(7)|p.0?(7)|p.L252fs*93(6)|p.I254S(5)|p.T253S(5)|p.L252del(5)|p.I254fs*10(5)|p.I254V(4)|p.I251_T253delILT(4)|p.L252_I254delLTI(3)|p.T253I(3)|p.T253A(3)|p.I254T(3)|p.I254N(3)|p.I255fs*90(3)|p.I254D(3)|p.I255fs*9(3)|p.T253P(3)|p.P250_L252delPIL(2)|p.T253_I255del(2)|p.T253T(2)|p.T253fs*91(2)|p.I254del(2)|p.T253fs*11(2)|p.L252H(2)|p.L252_T253delLT(1)|p.T253N(1)|p.P250_T253delPILT(1)|p.I254I(1)|p.T253fs*92(1)|p.?(1)|p.I254fs*7(1)|p.I251_L252insX(1)|p.T253del(1)|p.L252fs*12(1)|p.L252fs*13(1)|p.R249_T256delRPILTIIT(1)|p.I254fs*91(1)|p.L252fs*92(1)|p.L252L(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) CCAGTGTGATGATGGTGAGGATGGGCCTC 0.589 111 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 34 --- --- --- ---