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 PIK3CD 5293 broad.mit.edu 37 1 9770626 9770626 + Missense_Mutation SNP G G A TCGA-CG-5734-01A-11D-1600-08 TCGA-CG-5734-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx fcf304f6-27f0-4e97-a070-78478cfb3f71 660f9d0f-0fc5-4eb7-b45e-561e05600357 g.chr1:9770626G>A uc001aqb.3 + 3 321 c.113G>A c.(112-114)CGC>CAC p.R38H PIK3CD_uc001aqa.2_Missense_Mutation_p.R38H|PIK3CD_uc010oaf.1_Missense_Mutation_p.R38H|PIK3CD_uc001aqe.3_Missense_Mutation_p.R38H NM_005026 NP_005017 O00329 PK3CD_HUMAN catalytic phosphatidylinositol 3-kinase delta 38 phosphatidylinositol-mediated signaling|protein phosphorylation phosphatidylinositol 3-kinase complex|plasma membrane 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding lung(4)|skin(2)|central_nervous_system(1) 7 all_lung(157;0.222) all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419) CCTGTGTCCCGCAATGCCAAC 0.468000 PRAMEF6 440561 broad.mit.edu 37 1 13001329 13001329 + Missense_Mutation SNP T T G TCGA-CG-5734-01A-11D-1600-08 TCGA-CG-5734-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx fcf304f6-27f0-4e97-a070-78478cfb3f71 660f9d0f-0fc5-4eb7-b45e-561e05600357 g.chr1:13001329T>G uc001auq.2 - 3 440 c.354A>C c.(352-354)GAA>GAC p.E118D PRAMEF5_uc001aur.2_Intron NM_001010889 NP_001010889 Q5VXH4 PRAM6_HUMAN PRAME family member 6 118 0 Ovarian(185;0.249) Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) GGGCCATAGCTTCAGACCAAA 0.493000 HP1BP3 50809 broad.mit.edu 37 1 21076258 21076258 + Missense_Mutation SNP A A G TCGA-CG-5734-01A-11D-1600-08 TCGA-CG-5734-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx fcf304f6-27f0-4e97-a070-78478cfb3f71 660f9d0f-0fc5-4eb7-b45e-561e05600357 g.chr1:21076258A>G uc001bdw.1 - 10 1239 c.1099T>C c.(1099-1101)TAT>CAT p.Y367H HP1BP3_uc001bdv.1_Missense_Mutation_p.Y329H|HP1BP3_uc010odh.1_Missense_Mutation_p.Y329H|HP1BP3_uc001bdy.1_Missense_Mutation_p.Y367H|HP1BP3_uc010odf.1_Missense_Mutation_p.Y26H|HP1BP3_uc010odg.1_Missense_Mutation_p.Y215H NM_016287 NP_057371 Q5SSJ5 HP1B3_HUMAN HP1-BP74 367 H15 3. nucleosome assembly nucleosome|nucleus DNA binding central_nervous_system(1)|skin(1) 2 all_lung(284;6.55e-06)|Lung NSC(340;6.59e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.26e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00015)|GBM - Glioblastoma multiforme(114;0.000521)|Kidney(64;0.000529)|STAD - Stomach adenocarcinoma(196;0.00311)|KIRC - Kidney renal clear cell carcinoma(64;0.00687)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.201) TCTAGGACATACTTCTTCAGA 0.428000 ZDHHC18 84243 broad.mit.edu 37 1 27159097 27159097 + Silent SNP C C T TCGA-CG-5734-01A-11D-1600-08 TCGA-CG-5734-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx fcf304f6-27f0-4e97-a070-78478cfb3f71 660f9d0f-0fc5-4eb7-b45e-561e05600357 g.chr1:27159097C>T uc001bnb.2 + 2 590 c.495C>T c.(493-495)ATC>ATT p.I165I ZDHHC18_uc010ofh.1_Silent_p.I30I NM_032283 NP_115659 Q9NUE0 ZDH18_HUMAN zinc finger, DHHC-type containing 18 165 integral to membrane zinc ion binding 0 all_cancers(24;5.82e-22)|all_epithelial(13;9.91e-20)|Colorectal(325;0.000147)|Breast(348;0.000706)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;5.71e-53)|Epithelial(14;4.73e-52)|OV - Ovarian serous cystadenocarcinoma(117;1.53e-29)|Colorectal(126;1.9e-09)|COAD - Colon adenocarcinoma(152;4.2e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000548)|STAD - Stomach adenocarcinoma(196;0.00065)|KIRC - Kidney renal clear cell carcinoma(1967;0.000779)|GBM - Glioblastoma multiforme(114;0.0265)|READ - Rectum adenocarcinoma(331;0.0455)|Lung(427;0.163)|LUSC - Lung squamous cell carcinoma(448;0.237) AGAAACAGATCGGTGAGGTTT 0.532000 GJA8 2703 broad.mit.edu 37 1 147381081 147381081 + Silent SNP C C T TCGA-CG-5734-01A-11D-1600-08 TCGA-CG-5734-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx fcf304f6-27f0-4e97-a070-78478cfb3f71 660f9d0f-0fc5-4eb7-b45e-561e05600357 g.chr1:147381081C>T uc001epu.1 + 2 1062 c.999C>T c.(997-999)GGC>GGT p.G333G NM_005267 NP_005258 P48165 CXA8_HUMAN connexin 50 333 Cytoplasmic (Potential). cell communication|visual perception connexon complex|integral to plasma membrane channel activity ovary(2)|large_intestine(2)|breast(1)|skin(1) 6 all_hematologic(923;0.0276) AAGTGGAGGGCGAGGGGCCGC 0.647000 FLG 2312 broad.mit.edu 37 1 152285654 152285654 + Missense_Mutation SNP G G T TCGA-CG-5734-01A-11D-1600-08 TCGA-CG-5734-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx fcf304f6-27f0-4e97-a070-78478cfb3f71 660f9d0f-0fc5-4eb7-b45e-561e05600357 g.chr1:152285654G>T uc001ezu.1 - 3 1744 c.1708C>A c.(1708-1710)CAA>AAA p.Q570K uc001ezv.2_5'Flank NM_002016 NP_002007 P20930 FILA_HUMAN filaggrin 570 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) TTTCGTGTTTGTCTGCTTGCA 0.537000 Ichthyosis C1orf129 80133 broad.mit.edu 37 1 170967420 170967420 + Missense_Mutation SNP G G T TCGA-CG-5734-01A-11D-1600-08 TCGA-CG-5734-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx fcf304f6-27f0-4e97-a070-78478cfb3f71 660f9d0f-0fc5-4eb7-b45e-561e05600357 g.chr1:170967420G>T uc001ghg.2 + 15 1731 c.1601G>T c.(1600-1602)AGT>ATT p.S534I C1orf129_uc009wvy.2_Missense_Mutation_p.S341I|C1orf129_uc010plz.1_Intron NM_025063 NP_079339 Q5TGP6 CA129_HUMAN hypothetical protein LOC80133 isoform 2 534 binding pancreas(1) 1 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) ACTGAAGTGAGTTTTGTAGAC 0.398000 PAPPA2 60676 broad.mit.edu 37 1 176526217 176526217 + Silent SNP C C A TCGA-CG-5734-01A-11D-1600-08 TCGA-CG-5734-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx fcf304f6-27f0-4e97-a070-78478cfb3f71 660f9d0f-0fc5-4eb7-b45e-561e05600357 g.chr1:176526217C>A uc001gkz.2 + 2 1923 c.759C>A c.(757-759)ACC>ACA p.T253T PAPPA2_uc001gky.1_Silent_p.T253T|PAPPA2_uc009www.2_RNA NM_020318 NP_064714 Q9BXP8 PAPP2_HUMAN pappalysin 2 isoform 1 253 cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1) 16 AAGCAGAGACCTTTAACTCCC 0.557000 RGS18 64407 broad.mit.edu 37 1 192127860 192127860 + Missense_Mutation SNP A A C TCGA-CG-5734-01A-11D-1600-08 TCGA-CG-5734-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx fcf304f6-27f0-4e97-a070-78478cfb3f71 660f9d0f-0fc5-4eb7-b45e-561e05600357 g.chr1:192127860A>C uc001gsg.2 + 1 269 c.93A>C c.(91-93)GAA>GAC p.E31D NM_130782 NP_570138 Q9NS28 RGS18_HUMAN regulator of G-protein signalling 18 31 negative regulation of signal transduction cytoplasm|plasma membrane GTPase activator activity|signal transducer activity ovary(3) 3 CAGGAAAAGAAGAAACAAGCA 0.294000 ARV1 64801 broad.mit.edu 37 1 231131557 231131557 + Missense_Mutation SNP C C T TCGA-CG-5734-01A-11D-1600-08 TCGA-CG-5734-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx fcf304f6-27f0-4e97-a070-78478cfb3f71 660f9d0f-0fc5-4eb7-b45e-561e05600357 g.chr1:231131557C>T uc009xfl.1 + 4 529 c.500C>T c.(499-501)CCC>CTC p.P167L ARV1_uc001huh.2_Missense_Mutation_p.P167L NM_022786 NP_073623 Q9H2C2 ARV1_HUMAN ARV1 homolog 167 sphingolipid metabolic process integral to membrane breast(2) 2 Breast(184;0.0871)|Ovarian(103;0.183) Prostate(94;0.178) COAD - Colon adenocarcinoma(196;0.211)|Colorectal(1306;0.233) GTAGAACGGCCCATGACGGCA 0.373000 FMN2 56776 broad.mit.edu 37 1 240286542 240286542 + Missense_Mutation SNP A A C TCGA-CG-5734-01A-11D-1600-08 TCGA-CG-5734-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx fcf304f6-27f0-4e97-a070-78478cfb3f71 660f9d0f-0fc5-4eb7-b45e-561e05600357 g.chr1:240286542A>C uc010pyd.1 + 2 1904 c.1679A>C c.(1678-1680)AAG>ACG p.K560T FMN2_uc010pye.1_Missense_Mutation_p.K560T NM_020066 NP_064450 Q9NZ56 FMN2_HUMAN formin 2 560 actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions actin binding ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1) 12 Ovarian(103;0.127) all_cancers(173;0.013) OV - Ovarian serous cystadenocarcinoma(106;0.0106) GAAGCAGAGAAGTTTTGCTCC 0.512000 ENKUR 219670 broad.mit.edu 37 10 25273753 25273753 + Missense_Mutation SNP G G A TCGA-CG-5734-01A-11D-1600-08 TCGA-CG-5734-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx fcf304f6-27f0-4e97-a070-78478cfb3f71 660f9d0f-0fc5-4eb7-b45e-561e05600357 g.chr10:25273753G>A uc001isg.1 - 5 841 c.676C>T c.(676-678)CGC>TGC p.R226C ENKUR_uc001ish.1_Missense_Mutation_p.R164C NM_145010 NP_659447 Q8TC29 ENKUR_HUMAN enkurin 226 cilium|flagellum calmodulin binding|SH3 domain binding 0 CTCTGCTTGCGGATCTTCTTT 0.388000 FRMPD2 143162 broad.mit.edu 37 10 49420007 49420007 + Missense_Mutation SNP T T G TCGA-CG-5734-01A-11D-1600-08 TCGA-CG-5734-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx fcf304f6-27f0-4e97-a070-78478cfb3f71 660f9d0f-0fc5-4eb7-b45e-561e05600357 g.chr10:49420007T>G uc001jgi.2 - 13 1708 c.1601A>C c.(1600-1602)AAG>ACG p.K534T FRMPD2_uc001jgh.2_Missense_Mutation_p.K502T|FRMPD2_uc001jgj.2_Missense_Mutation_p.K512T NM_001018071 NP_001018081 Q68DX3 FRPD2_HUMAN FERM and PDZ domain containing 2 isoform 3 534 FERM. tight junction assembly basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction 1-phosphatidylinositol binding|protein binding large_intestine(1) 1 Kidney(211;0.201) CCTCAAGAACTTCAGCTCAGC 0.582000 GRID1 2894 broad.mit.edu 37 10 87482893 87482893 + Missense_Mutation SNP C C T rs148165863 TCGA-CG-5734-01A-11D-1600-08 TCGA-CG-5734-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx fcf304f6-27f0-4e97-a070-78478cfb3f71 660f9d0f-0fc5-4eb7-b45e-561e05600357 g.chr10:87482893C>T uc001kdl.1 - 12 1965 c.1864G>A c.(1864-1866)GAA>AAA p.E622K GRID1_uc009xsu.1_RNA|GRID1_uc010qmf.1_Missense_Mutation_p.E193K NM_017551 NP_060021 Q9ULK0 GRID1_HUMAN glutamate receptor, ionotropic, delta 1 622 Cytoplasmic (Potential). cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity ovary(5)|upper_aerodigestive_tract(2)|large_intestine(2)|central_nervous_system(1) 10 L-Glutamic Acid(DB00142) ACGGAAGATTCGCCACCTGCG 0.602000 Multiple Myeloma(13;0.14) SORCS3 22986 broad.mit.edu 37 10 106907471 106907471 + Missense_Mutation SNP C C T TCGA-CG-5734-01A-11D-1600-08 TCGA-CG-5734-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx fcf304f6-27f0-4e97-a070-78478cfb3f71 660f9d0f-0fc5-4eb7-b45e-561e05600357 g.chr10:106907471C>T uc001kyi.1 + 9 1626 c.1399C>T c.(1399-1401)CGT>TGT p.R467C NM_014978 NP_055793 Q9UPU3 SORC3_HUMAN VPS10 domain receptor protein SORCS 3 precursor 467 Lumenal (Potential). integral to membrane neuropeptide receptor activity ovary(6)|skin(3)|central_nervous_system(1) 10 Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191) Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628) CTCAGACACGCGTGGGATTTA 0.453000 SORCS1 114815 broad.mit.edu 37 10 108458997 108458997 + Missense_Mutation SNP C C T TCGA-CG-5734-01A-11D-1600-08 TCGA-CG-5734-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx fcf304f6-27f0-4e97-a070-78478cfb3f71 660f9d0f-0fc5-4eb7-b45e-561e05600357 g.chr10:108458997C>T uc001kym.2 - 9 1396 c.1388G>A c.(1387-1389)GGC>GAC p.G463D SORCS1_uc001kyl.2_Missense_Mutation_p.G463D|SORCS1_uc009xxs.2_Missense_Mutation_p.G463D|SORCS1_uc001kyn.1_Missense_Mutation_p.G463D|SORCS1_uc001kyo.2_Missense_Mutation_p.G463D NM_052918 NP_443150 Q8WY21 SORC1_HUMAN SORCS receptor 1 isoform a 463 Lumenal (Potential). integral to membrane neuropeptide receptor activity|protein binding breast(1)|central_nervous_system(1) 2 Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168) Epithelial(162;1.66e-05)|all cancers(201;0.000689) CATGATGTTGCCCTCAGGGCC 0.542000 MKI67 4288 broad.mit.edu 37 10 129907388 129907388 + Missense_Mutation SNP T T G TCGA-CG-5734-01A-11D-1600-08 TCGA-CG-5734-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx fcf304f6-27f0-4e97-a070-78478cfb3f71 660f9d0f-0fc5-4eb7-b45e-561e05600357 g.chr10:129907388T>G uc001lke.2 - 13 2911 c.2716A>C c.(2716-2718)AAA>CAA p.K906Q MKI67_uc001lkf.2_Missense_Mutation_p.K546Q|MKI67_uc009yav.1_Missense_Mutation_p.K481Q|MKI67_uc009yaw.1_Missense_Mutation_p.K56Q NM_002417 NP_002408 P46013 KI67_HUMAN antigen identified by monoclonal antibody Ki-67 906 cell proliferation nucleolus ATP binding|protein C-terminus binding ovary(4)|central_nervous_system(2)|skin(1) 7 all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203) TGACCTCTTTTTAGGATGCAC 0.363000 ADAM8 101 broad.mit.edu 37 10 135083907 135083907 + Missense_Mutation SNP G G A TCGA-CG-5734-01A-11D-1600-08 TCGA-CG-5734-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx fcf304f6-27f0-4e97-a070-78478cfb3f71 660f9d0f-0fc5-4eb7-b45e-561e05600357 g.chr10:135083907G>A uc010qva.1 - 15 1676 c.1625C>T c.(1624-1626)GCG>GTG p.A542V ADAM8_uc010quz.1_Missense_Mutation_p.A581V|ADAM8_uc009ybi.2_Missense_Mutation_p.A581V P78325 ADAM8_HUMAN SubName: Full=cDNA FLJ50704, highly similar to ADAM 8 (EC 3.4.24.-) (A disintegrinand metalloproteinase domain 8); 542 integrin-mediated signaling pathway|proteolysis metalloendopeptidase activity large_intestine(2)|central_nervous_system(1) 3 all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203) all cancers(32;7.72e-06)|OV - Ovarian serous cystadenocarcinoma(35;8.23e-06)|Epithelial(32;1.02e-05) TGGTTCATACGCAGTGCCATC 0.672000 NUP160 23279 broad.mit.edu 37 11 47837151 47837151 + Silent SNP A A G TCGA-CG-5734-01A-11D-1600-08 TCGA-CG-5734-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx fcf304f6-27f0-4e97-a070-78478cfb3f71 660f9d0f-0fc5-4eb7-b45e-561e05600357 g.chr11:47837151A>G uc001ngm.2 - 13 1651 c.1566T>C c.(1564-1566)AAT>AAC p.N522N NUP160_uc009ylw.2_RNA NM_015231 NP_056046 Q12769 NU160_HUMAN nucleoporin 160kDa 522 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|Nup107-160 complex nucleocytoplasmic transporter activity|protein binding ovary(4)|lung(1)|central_nervous_system(1)|skin(1) 7 CTTGTTGTAAATTTCGAAACT 0.403000 OR4D6 219983 broad.mit.edu 37 11 59224624 59224624 + Missense_Mutation SNP G G A TCGA-CG-5734-01A-11D-1600-08 TCGA-CG-5734-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx fcf304f6-27f0-4e97-a070-78478cfb3f71 660f9d0f-0fc5-4eb7-b45e-561e05600357 g.chr11:59224624G>A uc010rku.1 + 1 191 c.191G>A c.(190-192)CGG>CAG p.R64Q NM_001004708 NP_001004708 Q8NGJ1 OR4D6_HUMAN olfactory receptor, family 4, subfamily D, 64 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 TTTCTCCTGCGGAACAAATCA 0.458000 MS4A13 503497 broad.mit.edu 37 11 60285672 60285672 + Nonsense_Mutation SNP T T A TCGA-CG-5734-01A-11D-1600-08 TCGA-CG-5734-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx fcf304f6-27f0-4e97-a070-78478cfb3f71 660f9d0f-0fc5-4eb7-b45e-561e05600357 g.chr11:60285672T>A uc001nps.2 + 3 439 c.116T>A c.(115-117)TTA>TAA p.L39* MS4A13_uc009ync.2_Nonsense_Mutation_p.L39*|MS4A13_uc009ynd.2_Nonsense_Mutation_p.L39* NM_001012417 NP_001012417 Q5J8X5 M4A13_HUMAN membrane-spanning 4-domains, subfamily A, member 39 Helical; (Potential). integral to membrane 0 GGATGTACTTTATGGGGAATT 0.323000 RAB38 23682 broad.mit.edu 37 11 87883041 87883041 + Silent SNP T T C TCGA-CG-5734-01A-11D-1600-08 TCGA-CG-5734-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx fcf304f6-27f0-4e97-a070-78478cfb3f71 660f9d0f-0fc5-4eb7-b45e-561e05600357 g.chr11:87883041T>C uc001pcj.1 - 2 332 c.285A>G c.(283-285)CCA>CCG p.P95P NM_022337 NP_071732 P57729 RAB38_HUMAN RAB38 95 protein transport|small GTPase mediated signal transduction melanosome|plasma membrane GTP binding|GTPase activity upper_aerodigestive_tract(1)|large_intestine(1) 2 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123) CAAATGTGGCTGGCCTGGTGA 0.428000 CNTN5 53942 broad.mit.edu 37 11 99827732 99827732 + Missense_Mutation SNP C C T TCGA-CG-5734-01A-11D-1600-08 TCGA-CG-5734-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx fcf304f6-27f0-4e97-a070-78478cfb3f71 660f9d0f-0fc5-4eb7-b45e-561e05600357 g.chr11:99827732C>T uc001pga.2 + 8 1207 c.868C>T c.(868-870)CGT>TGT p.R290C CNTN5_uc009ywv.1_Missense_Mutation_p.R290C|CNTN5_uc001pfz.2_Missense_Mutation_p.R290C|CNTN5_uc001pgb.2_Missense_Mutation_p.R216C NM_014361 NP_055176 O94779 CNTN5_HUMAN contactin 5 isoform long 290 cell adhesion anchored to membrane|plasma membrane protein binding skin(3)|ovary(2)|pancreas(2)|breast(1) 8 all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219) BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196) ACTCACTCTGCGTAATGATGG 0.398000 SIK3 23387 broad.mit.edu 37 11 116718205 116718205 + Missense_Mutation SNP A A T TCGA-CG-5734-01A-11D-1600-08 TCGA-CG-5734-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx fcf304f6-27f0-4e97-a070-78478cfb3f71 660f9d0f-0fc5-4eb7-b45e-561e05600357 g.chr11:116718205A>T uc001ppy.2 - 22 3657 c.3621T>A c.(3619-3621)GAT>GAA p.D1207E SIK3_uc001ppz.2_Missense_Mutation_p.D1046E|SIK3_uc001pqa.2_Missense_Mutation_p.D1147E|SIK3_uc001ppw.2_Missense_Mutation_p.D564E|SIK3_uc001ppx.2_Missense_Mutation_p.D585E NM_025164 NP_079440 Q9Y2K2 SIK3_HUMAN serine/threonine-protein kinase QSK 1207 cytoplasm ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity ovary(4)|breast(3)|stomach(2)|lung(1)|skin(1)|kidney(1) 12 CATTTTCCCCATCCTGAAACT 0.562000 OR6X1 390260 broad.mit.edu 37 11 123624910 123624910 + Missense_Mutation SNP C C T TCGA-CG-5734-01A-11D-1600-08 TCGA-CG-5734-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx fcf304f6-27f0-4e97-a070-78478cfb3f71 660f9d0f-0fc5-4eb7-b45e-561e05600357 g.chr11:123624910C>T uc010rzy.1 - 1 317 c.317G>A c.(316-318)GGC>GAC p.G106D NM_001005188 NP_001005188 Q8NH79 OR6X1_HUMAN olfactory receptor, family 6, subfamily X, 106 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(1) 3 Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279) CTCGGTGGTGCCCACGAAGAA 0.522000 ADAMTS8 11095 broad.mit.edu 37 11 130278390 130278390 + Missense_Mutation SNP T T C TCGA-CG-5734-01A-11D-1600-08 TCGA-CG-5734-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx fcf304f6-27f0-4e97-a070-78478cfb3f71 660f9d0f-0fc5-4eb7-b45e-561e05600357 g.chr11:130278390T>C uc001qgg.3 - 8 2426 c.2068A>G c.(2068-2070)AGG>GGG p.R690G ADAMTS8_uc001qgf.2_Missense_Mutation_p.R171G NM_007037 NP_008968 Q9UP79 ATS8_HUMAN ADAM metallopeptidase with thrombospondin type 1 690 Spacer. negative regulation of cell proliferation|proteolysis proteinaceous extracellular matrix heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding central_nervous_system(1) 1 all_hematologic(175;0.0429) Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213) GAGACCTTCCTGCAGGAGTTG 0.512000 KCNA6 3742 broad.mit.edu 37 12 4920073 4920073 + Missense_Mutation SNP C C T TCGA-CG-5734-01A-11D-1600-08 TCGA-CG-5734-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx fcf304f6-27f0-4e97-a070-78478cfb3f71 660f9d0f-0fc5-4eb7-b45e-561e05600357 g.chr12:4920073C>T uc001qng.2 + 1 1732 c.866C>T c.(865-867)CCG>CTG p.P289L NM_002235 NP_002226 P17658 KCNA6_HUMAN potassium voltage-gated channel, shaker-related 289 voltage-gated potassium channel complex voltage-gated potassium channel activity skin(2)|ovary(1) 3 CCTAGCAAGCCGGCCTTCTTC 0.552000 HNSCC(72;0.22) TMEM106C 79022 broad.mit.edu 37 12 48359740 48359740 + Missense_Mutation SNP C C A TCGA-CG-5734-01A-11D-1600-08 TCGA-CG-5734-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx fcf304f6-27f0-4e97-a070-78478cfb3f71 660f9d0f-0fc5-4eb7-b45e-561e05600357 g.chr12:48359740C>A uc001rqp.2 + 4 486 c.371C>A c.(370-372)ACA>AAA p.T124K TMEM106C_uc001rqo.2_Missense_Mutation_p.T124K|TMEM106C_uc001rqr.2_Missense_Mutation_p.T124K|TMEM106C_uc001rqq.2_Missense_Mutation_p.T124K NM_024056 NP_076961 Q9BVX2 T106C_HUMAN transmembrane protein 106C isoform a 124 endoplasmic reticulum membrane|integral to membrane 0 Acute lymphoblastic leukemia(13;0.11) GBM - Glioblastoma multiforme(48;0.241) GTGAAAGTCACATTTAATAAG 0.488000 GRIP1 23426 broad.mit.edu 37 12 66935616 66935616 + Missense_Mutation SNP C C T TCGA-CG-5734-01A-11D-1600-08 TCGA-CG-5734-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx fcf304f6-27f0-4e97-a070-78478cfb3f71 660f9d0f-0fc5-4eb7-b45e-561e05600357 g.chr12:66935616C>T uc001stk.2 - 3 492 c.251G>A c.(250-252)CGG>CAG p.R84Q GRIP1_uc010sta.1_Missense_Mutation_p.R28Q|GRIP1_uc001stl.1_Missense_Mutation_p.R28Q|GRIP1_uc001stm.2_Missense_Mutation_p.R84Q NM_021150 NP_066973 Q9Y3R0 GRIP1_HUMAN glutamate receptor interacting protein 1 84 PDZ 1. androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity ovary(2) 2 GBM - Glioblastoma multiforme(2;0.00069) GBM - Glioblastoma multiforme(28;0.0933) TCCTCCTTGCCGCAGATTAGA 0.463000 CIT 11113 broad.mit.edu 37 12 120271923 120271923 + Missense_Mutation SNP A A G rs75000396 TCGA-CG-5734-01A-11D-1600-08 TCGA-CG-5734-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx fcf304f6-27f0-4e97-a070-78478cfb3f71 660f9d0f-0fc5-4eb7-b45e-561e05600357 g.chr12:120271923A>G uc001txi.1 - 6 679 c.626T>C c.(625-627)GTT>GCT p.V209A CIT_uc001txj.1_Missense_Mutation_p.V209A NM_007174 NP_009105 O14578 CTRO_HUMAN citron 209 Protein kinase. intracellular signal transduction ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity ovary(6)|urinary_tract(1)|lung(1)|breast(1)|skin(1) 10 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) Myeloproliferative disorder(1001;0.0255) BRCA - Breast invasive adenocarcinoma(302;0.211) AACGCTGTGAACAGCCAAAAT 0.443000 EP400 57634 broad.mit.edu 37 12 132497672 132497672 + Missense_Mutation SNP G G A TCGA-CG-5734-01A-11D-1600-08 TCGA-CG-5734-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx fcf304f6-27f0-4e97-a070-78478cfb3f71 660f9d0f-0fc5-4eb7-b45e-561e05600357 g.chr12:132497672G>A uc001ujn.2 + 16 3595 c.3560G>A c.(3559-3561)CGC>CAC p.R1187H EP400_uc001ujl.2_Missense_Mutation_p.R1186H|EP400_uc001ujm.2_Missense_Mutation_p.R1187H NM_015409 NP_056224 Q96L91 EP400_HUMAN E1A binding protein p400 1223 Interactions with RUVBL1 and RUVBL2.|Helicase ATP-binding. 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) GAGATGCAGCGCGTGAAGGGC 0.557000 DDX51 317781 broad.mit.edu 37 12 132627302 132627302 + Missense_Mutation SNP C C T TCGA-CG-5734-01A-11D-1600-08 TCGA-CG-5734-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx fcf304f6-27f0-4e97-a070-78478cfb3f71 660f9d0f-0fc5-4eb7-b45e-561e05600357 g.chr12:132627302C>T uc001ujy.3 - 3 680 c.641G>A c.(640-642)CGG>CAG p.R214Q NOC4L_uc001ujz.1_5'Flank NM_175066 NP_778236 Q8N8A6 DDX51_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 51 214 rRNA processing nucleolus ATP binding|ATP-dependent helicase activity|RNA binding lung(1)|pancreas(1) 2 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.241) OV - Ovarian serous cystadenocarcinoma(86;7.59e-08)|Epithelial(86;3.62e-07)|all cancers(50;2.13e-05) GCCGTGTGCCCGCAGCTGCTT 0.617000 TNFRSF19 55504 broad.mit.edu 37 13 24190168 24190168 + Missense_Mutation SNP G G A TCGA-CG-5734-01A-11D-1600-08 TCGA-CG-5734-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx fcf304f6-27f0-4e97-a070-78478cfb3f71 660f9d0f-0fc5-4eb7-b45e-561e05600357 g.chr13:24190168G>A uc001uov.1 + 4 407 c.343G>A c.(343-345)GGG>AGG p.G115R TNFRSF19_uc001uot.2_Missense_Mutation_p.G115R|TNFRSF19_uc010tcu.1_5'UTR|TNFRSF19_uc001uow.2_Missense_Mutation_p.G115R NM_018647 NP_061117 Q9NS68 TNR19_HUMAN tumor necrosis factor receptor superfamily, 115 Extracellular (Potential). apoptosis|induction of apoptosis|JNK cascade integral to membrane|mitochondrion tumor necrosis factor receptor activity kidney(1)|skin(1) 2 all_cancers(29;3.4e-22)|all_epithelial(30;8.75e-19)|all_lung(29;5.09e-18)|Lung SC(185;0.0225)|Breast(139;0.128) all cancers(112;0.00193)|Epithelial(112;0.0137)|OV - Ovarian serous cystadenocarcinoma(117;0.0465)|GBM - Glioblastoma multiforme(144;0.184)|Lung(94;0.19) TGCCATCTGCGGGGACTGCTT 0.473000 KPNA3 3839 broad.mit.edu 37 13 50279772 50279772 + Missense_Mutation SNP T T C rs79884028 TCGA-CG-5734-01A-11D-1600-08 TCGA-CG-5734-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx fcf304f6-27f0-4e97-a070-78478cfb3f71 660f9d0f-0fc5-4eb7-b45e-561e05600357 g.chr13:50279772T>C uc001vdj.2 - 15 1772 c.1357A>G c.(1357-1359)ATA>GTA p.I453V NM_002267 NP_002258 O00505 IMA3_HUMAN karyopherin alpha 3 453 ARM 10; atypical. interspecies interaction between organisms|NLS-bearing substrate import into nucleus|protein complex assembly cytoplasm|nuclear pore nuclear localization sequence binding|protein transporter activity 0 Lung NSC(96;2.46e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19) GBM - Glioblastoma multiforme(99;1.42e-09) CATTCCTCTATTATTTCAGCT 0.383000 ABCC4 10257 broad.mit.edu 37 13 95859004 95859004 + Missense_Mutation SNP A A T TCGA-CG-5734-01A-11D-1600-08 TCGA-CG-5734-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx fcf304f6-27f0-4e97-a070-78478cfb3f71 660f9d0f-0fc5-4eb7-b45e-561e05600357 g.chr13:95859004A>T uc001vmd.3 - 8 1062 c.943T>A c.(943-945)TGC>AGC p.C315S ABCC4_uc010afk.2_Missense_Mutation_p.C315S|ABCC4_uc001vme.2_Missense_Mutation_p.C315S|ABCC4_uc010tih.1_Missense_Mutation_p.C240S|ABCC4_uc001vmf.2_Missense_Mutation_p.C272S|ABCC4_uc010afl.1_Missense_Mutation_p.C272S|ABCC4_uc010afm.1_Missense_Mutation_p.C328S NM_005845 NP_005836 O15439 MRP4_HUMAN ATP-binding cassette, sub-family C, member 4 315 ABC transmembrane type-1 1. platelet activation|platelet degranulation integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane 15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity central_nervous_system(3)|skin(1) 4 all_neural(89;0.0878)|Medulloblastoma(90;0.163) Cefazolin(DB01327) CCTCTGAGGCAGGAACTTCTC 0.393000 KDELC1 79070 broad.mit.edu 37 13 103446097 103446097 + Missense_Mutation SNP C C T TCGA-CG-5734-01A-11D-1600-08 TCGA-CG-5734-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx fcf304f6-27f0-4e97-a070-78478cfb3f71 660f9d0f-0fc5-4eb7-b45e-561e05600357 g.chr13:103446097C>T uc001vpq.3 - 3 832 c.448G>A c.(448-450)GAG>AAG p.E150K KDELC1_uc001vpr.3_5'UTR NM_024089 NP_076994 Q6UW63 KDEL1_HUMAN KDEL (Lys-Asp-Glu-Leu) containing 1 precursor 150 endoplasmic reticulum lumen ovary(1) 1 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211) CAGTTCATCTCCCGTAGCCAG 0.438000 OR4L1 122742 broad.mit.edu 37 14 20529107 20529107 + Missense_Mutation SNP C C T TCGA-CG-5734-01A-11D-1600-08 TCGA-CG-5734-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx fcf304f6-27f0-4e97-a070-78478cfb3f71 660f9d0f-0fc5-4eb7-b45e-561e05600357 g.chr14:20529107C>T uc001vwn.1 + 1 904 c.904C>T c.(904-906)CGG>TGG p.R302W NM_001004717 NP_001004717 Q8NH43 OR4L1_HUMAN olfactory receptor, family 4, subfamily L, 302 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.R302L(1) ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1) 5 all_cancers(95;0.00108) Epithelial(56;4.65e-07)|all cancers(55;2.9e-06) GBM - Glioblastoma multiforme(265;0.0064) AAGAAAATTACGGTTCCAATA 0.303000 ZFYVE26 23503 broad.mit.edu 37 14 68244307 68244307 + Missense_Mutation SNP C C T TCGA-CG-5734-01A-11D-1600-08 TCGA-CG-5734-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx fcf304f6-27f0-4e97-a070-78478cfb3f71 660f9d0f-0fc5-4eb7-b45e-561e05600357 g.chr14:68244307C>T uc001xka.2 - 25 5082 c.4943G>A c.(4942-4944)CGT>CAT p.R1648H ZFYVE26_uc010tsz.1_RNA|ZFYVE26_uc001xkc.3_Missense_Mutation_p.R1648H NM_015346 NP_056161 Q68DK2 ZFY26_HUMAN zinc finger, FYVE domain containing 26 1648 cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination centrosome|midbody metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding ovary(9)|breast(2) 11 all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115) CTGGATTTCACGGTGTCGGAC 0.532000 SPTBN5 51332 broad.mit.edu 37 15 42143986 42143986 + Silent SNP G G A TCGA-CG-5734-01A-11D-1600-08 TCGA-CG-5734-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx fcf304f6-27f0-4e97-a070-78478cfb3f71 660f9d0f-0fc5-4eb7-b45e-561e05600357 g.chr15:42143986G>A uc001zos.2 - 63 10875 c.10542C>T c.(10540-10542)GGC>GGT p.G3514G NM_016642 NP_057726 Q9NRC6 SPTN5_HUMAN spectrin, beta, non-erythrocytic 5 3549 PH. actin cytoskeleton organization|actin filament capping|axon guidance cytosol|membrane|spectrin ovary(1)|central_nervous_system(1) 2 all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173) all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908) CCTGCCTCCCGCCAGGCAGCA 0.597000 ADAM10 102 broad.mit.edu 37 15 58920052 58920052 + Missense_Mutation SNP C C T TCGA-CG-5734-01A-11D-1600-08 TCGA-CG-5734-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx fcf304f6-27f0-4e97-a070-78478cfb3f71 660f9d0f-0fc5-4eb7-b45e-561e05600357 g.chr15:58920052C>T uc002afd.1 - 10 1651 c.1207G>A c.(1207-1209)GAA>AAA p.E403K ADAM10_uc010bgc.1_RNA|ADAM10_uc010ugz.1_Missense_Mutation_p.E102K|ADAM10_uc002afe.1_Intron NM_001110 NP_001101 O14672 ADA10_HUMAN ADAM metallopeptidase domain 10 precursor 403 Peptidase M12B.|Extracellular (Potential). cell-cell signaling|constitutive protein ectodomain proteolysis|epidermal growth factor receptor signaling pathway|in utero embryonic development|integrin-mediated signaling pathway|monocyte activation|negative regulation of cell adhesion|Notch receptor processing|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of T cell chemotaxis|protein phosphorylation|response to tumor necrosis factor cell surface|endomembrane system|Golgi-associated vesicle|integral to membrane|nucleus|plasma membrane integrin binding|metalloendopeptidase activity|protein homodimerization activity|protein kinase binding|SH3 domain binding|zinc ion binding skin(2) 2 GBM - Glioblastoma multiforme(80;0.202) TTCTTAGATTCTCCTGGTGTG 0.348000 BTBD12 84464 broad.mit.edu 37 16 3639390 3639390 + Missense_Mutation SNP T T C TCGA-CG-5734-01A-11D-1600-08 TCGA-CG-5734-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx fcf304f6-27f0-4e97-a070-78478cfb3f71 660f9d0f-0fc5-4eb7-b45e-561e05600357 g.chr16:3639390T>C uc002cvp.2 - 12 4876 c.4249A>G c.(4249-4251)AGT>GGT p.S1417G NM_032444 NP_115820 Q8IY92 SLX4_HUMAN BTB (POZ) domain containing 12 1417 Interaction with MUS81.|Interaction with PLK1 and TERF2-TERF2IP. DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair Slx1-Slx4 complex enzyme activator activity|protein binding 0 GGGGGGTCACTGTCCAGTGGG 0.622000 Direct_reversal_of_damage|Homologous_recombination Fanconi_Anemia BTBD12 84464 broad.mit.edu 37 16 3640449 3640449 + Missense_Mutation SNP C C T rs142079276 byFrequency TCGA-CG-5734-01A-11D-1600-08 TCGA-CG-5734-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx fcf304f6-27f0-4e97-a070-78478cfb3f71 660f9d0f-0fc5-4eb7-b45e-561e05600357 g.chr16:3640449C>T uc002cvp.2 - 12 3817 c.3190G>A c.(3190-3192)GGA>AGA p.G1064R NM_032444 NP_115820 Q8IY92 SLX4_HUMAN BTB (POZ) domain containing 12 1064 Interaction with PLK1 and TERF2-TERF2IP. DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair Slx1-Slx4 complex enzyme activator activity|protein binding 0 TGGGAAGTTCCGCCACGGGAC 0.637000 Direct_reversal_of_damage|Homologous_recombination Fanconi_Anemia NOMO1 23420 broad.mit.edu 37 16 14970589 14970589 + Missense_Mutation SNP C C T TCGA-CG-5734-01A-11D-1600-08 TCGA-CG-5734-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx fcf304f6-27f0-4e97-a070-78478cfb3f71 660f9d0f-0fc5-4eb7-b45e-561e05600357 g.chr16:14970589C>T uc002dcv.2 + 22 2651 c.2585C>T c.(2584-2586)GCG>GTG p.A862V NM_014287 NP_055102 Q15155 NOMO1_HUMAN nodal modulator 1 precursor 862 Extracellular (Potential). integral to membrane carbohydrate binding|carboxypeptidase activity|protein binding ovary(1) 1 GTTCTGACTGCGGTGGAAGGA 0.473000 SRCAP 10847 broad.mit.edu 37 16 30750658 30750658 + Silent SNP C C T rs146224299 TCGA-CG-5734-01A-11D-1600-08 TCGA-CG-5734-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx fcf304f6-27f0-4e97-a070-78478cfb3f71 660f9d0f-0fc5-4eb7-b45e-561e05600357 g.chr16:30750658C>T uc002dze.1 + 34 9682 c.9297C>T c.(9295-9297)AGC>AGT p.S3099S SRCAP_uc002dzf.2_RNA|SRCAP_uc002dzg.1_Silent_p.S2894S NM_006662 NP_006653 Q6ZRS2 SRCAP_HUMAN Snf2-related CBP activator protein 3099 interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|nucleus|protein complex ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity ovary(3)|skin(1) 4 Colorectal(24;0.198) TAGCAGATAGCGGGCCAGGCG 0.592000 PYCARD 29108 broad.mit.edu 37 16 31213016 31213016 + Missense_Mutation SNP G G A TCGA-CG-5734-01A-11D-1600-08 TCGA-CG-5734-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx fcf304f6-27f0-4e97-a070-78478cfb3f71 660f9d0f-0fc5-4eb7-b45e-561e05600357 g.chr16:31213016G>A uc010cak.2 - 3 718 c.478C>T c.(478-480)CGG>TGG p.R160W PYCARD_uc002ebm.2_Missense_Mutation_p.R141W NM_013258 NP_037390 Q9ULZ3 ASC_HUMAN PYD and CARD domain containing isoform a 160 CARD. induction of apoptosis|positive regulation of interleukin-1 beta secretion|positive regulation of NF-kappaB transcription factor activity|proteolysis|tumor necrosis factor-mediated signaling pathway IkappaB kinase complex caspase activator activity|cysteine-type endopeptidase activity|protein homodimerization activity|Pyrin domain binding 0 AAGAGCTTCCGCATCTTGCTT 0.597000 DYNC1LI2 1783 broad.mit.edu 37 16 66759770 66759770 + Missense_Mutation SNP G G A TCGA-CG-5734-01A-11D-1600-08 TCGA-CG-5734-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx fcf304f6-27f0-4e97-a070-78478cfb3f71 660f9d0f-0fc5-4eb7-b45e-561e05600357 g.chr16:66759770G>A uc002eqb.1 - 12 1370 c.1339C>T c.(1339-1341)CCT>TCT p.P447S DYNC1LI2_uc010vis.1_Missense_Mutation_p.P370S NM_006141 NP_006132 O43237 DC1L2_HUMAN dynein, cytoplasmic, light intermediate 447 transport centrosome|cytoplasmic dynein complex|microtubule ATP binding|motor activity central_nervous_system(3)|skin(1) 4 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0907)|Epithelial(162;0.212) CCAGCACCAGGACTTCCAGGA 0.488000 ELMO3 79767 broad.mit.edu 37 16 67237416 67237416 + Missense_Mutation SNP C C A TCGA-CG-5734-01A-11D-1600-08 TCGA-CG-5734-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx fcf304f6-27f0-4e97-a070-78478cfb3f71 660f9d0f-0fc5-4eb7-b45e-561e05600357 g.chr16:67237416C>A uc002esa.2 + 19 2082 c.2039C>A c.(2038-2040)GCC>GAC p.A680D ELMO3_uc002esb.2_Missense_Mutation_p.A663D|ELMO3_uc002esc.2_Missense_Mutation_p.A514D|uc010vjf.1_5'Flank|MIR328_hsa-mir-328|MI0000804_5'Flank NM_024712 NP_078988 Q96BJ8 ELMO3_HUMAN engulfment and cell motility 3 627 PH. apoptosis|phagocytosis cytoplasm|cytoskeleton SH3 domain binding 0 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.00067)|Epithelial(162;0.00442)|all cancers(182;0.0417) TATGAGTTGGCCTTCTCAATC 0.647000 MYH10 4628 broad.mit.edu 37 17 8390909 8390909 + Missense_Mutation SNP G G A TCGA-CG-5734-01A-11D-1600-08 TCGA-CG-5734-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx fcf304f6-27f0-4e97-a070-78478cfb3f71 660f9d0f-0fc5-4eb7-b45e-561e05600357 g.chr17:8390909G>A uc002gll.2 - 34 4891 c.4795C>T c.(4795-4797)CGG>TGG p.R1599W MYH10_uc002glm.2_Missense_Mutation_p.R1630W|MYH10_uc010cnx.2_Missense_Mutation_p.R1608W NM_005964 NP_005955 P35580 MYH10_HUMAN myosin, heavy polypeptide 10, non-muscle 1599 Potential. actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape cell cortex|cleavage furrow|midbody|myosin complex|stress fiber actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity ovary(2) 2 TCGAGCTCCCGCACCTAATGG 0.547000 MYH10 4628 broad.mit.edu 37 17 8508154 8508154 + Silent SNP G G A TCGA-CG-5734-01A-11D-1600-08 TCGA-CG-5734-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx fcf304f6-27f0-4e97-a070-78478cfb3f71 660f9d0f-0fc5-4eb7-b45e-561e05600357 g.chr17:8508154G>A uc002gll.2 - 3 588 c.492C>T c.(490-492)TGC>TGT p.C164C MYH10_uc002glm.2_Silent_p.C164C|MYH10_uc010cnx.2_Silent_p.C164C NM_005964 NP_005955 P35580 MYH10_HUMAN myosin, heavy polypeptide 10, non-muscle 164 Myosin head-like. actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape cell cortex|cleavage furrow|midbody|myosin complex|stress fiber actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity ovary(2) 2 CTTGAAGCATGCATCTGTAAG 0.313000 TBX21 30009 broad.mit.edu 37 17 45822578 45822578 + Missense_Mutation SNP C C T TCGA-CG-5734-01A-11D-1600-08 TCGA-CG-5734-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx fcf304f6-27f0-4e97-a070-78478cfb3f71 660f9d0f-0fc5-4eb7-b45e-561e05600357 g.chr17:45822578C>T uc002ilv.1 + 6 1665 c.1454C>T c.(1453-1455)CCG>CTG p.P485L NM_013351 NP_037483 Q9UL17 TBX21_HUMAN T-box 21 485 lymphocyte migration|multicellular organismal development|positive regulation of transcription, DNA-dependent|response to virus nucleus sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding 0 CCCATCCGGCCGGAATCCAGT 0.657000 ITGA3 3675 broad.mit.edu 37 17 48155636 48155636 + Missense_Mutation SNP C C T TCGA-CG-5734-01A-11D-1600-08 TCGA-CG-5734-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx fcf304f6-27f0-4e97-a070-78478cfb3f71 660f9d0f-0fc5-4eb7-b45e-561e05600357 g.chr17:48155636C>T uc010dbl.2 + 18 2749 c.2285C>T c.(2284-2286)ACC>ATC p.T762I ITGA3_uc010dbm.2_Missense_Mutation_p.T762I NM_002204 NP_002195 P26006 ITA3_HUMAN integrin alpha 3 isoform a precursor 762 Extracellular (Potential). blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|leukocyte migration cell surface|integrin complex protein binding|receptor activity ovary(2)|pancreas(1) 3 ACACTCCAGACCTCGCTTAGC 0.577000 CDH2 1000 broad.mit.edu 37 18 25573520 25573520 + Missense_Mutation SNP C C T TCGA-CG-5734-01A-11D-1600-08 TCGA-CG-5734-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx fcf304f6-27f0-4e97-a070-78478cfb3f71 660f9d0f-0fc5-4eb7-b45e-561e05600357 g.chr18:25573520C>T uc002kwg.2 - 8 1561 c.1102G>A c.(1102-1104)GCC>ACC p.A368T CDH2_uc010xbn.1_Missense_Mutation_p.A337T NM_001792 NP_001783 P19022 CADH2_HUMAN cadherin 2, type 1 preproprotein 368 Extracellular (Potential).|Cadherin 2. adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation catenin complex|integral to membrane alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding ovary(3)|lung(1) 4 GTGATGACGGCCGTGGCTGTG 0.438000 NFATC1 4772 broad.mit.edu 37 18 77246937 77246937 + Missense_Mutation SNP G G A TCGA-CG-5734-01A-11D-1600-08 TCGA-CG-5734-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx fcf304f6-27f0-4e97-a070-78478cfb3f71 660f9d0f-0fc5-4eb7-b45e-561e05600357 g.chr18:77246937G>A uc010xfg.1 + 9 3235 c.2782G>A c.(2782-2784)GTA>ATA p.V928I NFATC1_uc002lnd.2_Intron|NFATC1_uc002lne.2_Intron|NFATC1_uc010xfh.1_Intron|NFATC1_uc010xfj.1_Missense_Mutation_p.V456I|NFATC1_uc002lnf.2_Missense_Mutation_p.V915I|NFATC1_uc002lng.2_Intron|NFATC1_uc010xfk.1_Intron NM_006162 NP_006153 O95644 NFAC1_HUMAN nuclear factor of activated T-cells, cytosolic 928 Nuclear export signal.|Trans-activation domain B (TAD-B). intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter cytoplasm|nucleus FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding large_intestine(1)|ovary(1) 2 Esophageal squamous(42;0.0157)|Melanoma(33;0.144) OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257) CCTGGATGACGGTGAGTGCCC 0.617000 ELAVL1 1994 broad.mit.edu 37 19 8028580 8028580 + Silent SNP G G A rs145371492 by1000genomes TCGA-CG-5734-01A-11D-1600-08 TCGA-CG-5734-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx fcf304f6-27f0-4e97-a070-78478cfb3f71 660f9d0f-0fc5-4eb7-b45e-561e05600357 g.chr19:8028580G>A uc002mjb.2 - 6 935 c.768C>T c.(766-768)GAC>GAT p.D256D NM_001419 NP_001410 Q15717 ELAV1_HUMAN ELAV-like 1 256 RRM 3. 3'-UTR-mediated mRNA stabilization|multicellular organismal development cytoplasm|nucleoplasm identical protein binding|mRNA binding|nucleotide binding 0 GGATCCCCTCGTCGGCATCCT 0.572000 MUC16 94025 broad.mit.edu 37 19 9047614 9047614 + Missense_Mutation SNP C C A TCGA-CG-5734-01A-11D-1600-08 TCGA-CG-5734-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx fcf304f6-27f0-4e97-a070-78478cfb3f71 660f9d0f-0fc5-4eb7-b45e-561e05600357 g.chr19:9047614C>A uc002mkp.2 - 5 34221 c.34017G>T c.(34015-34017)GAG>GAT p.E11339D NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 11341 Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 CATGTGGGGACTCAGGCACTG 0.483000 ZNF823 55552 broad.mit.edu 37 19 11832637 11832637 + Missense_Mutation SNP C C T TCGA-CG-5734-01A-11D-1600-08 TCGA-CG-5734-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx fcf304f6-27f0-4e97-a070-78478cfb3f71 660f9d0f-0fc5-4eb7-b45e-561e05600357 g.chr19:11832637C>T uc002msm.2 - 4 1838 c.1712G>A c.(1711-1713)CGA>CAA p.R571Q ZNF823_uc010xmd.1_Missense_Mutation_p.R389Q|ZNF823_uc010dyi.1_Missense_Mutation_p.R527Q NM_001080493 NP_001073962 P16415 ZN823_HUMAN ZFP-36 for a zinc finger protein 571 C2H2-type 15. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 TTCATGTCCTCGAAGGAAACG 0.433000 HNSCC(68;0.2) LRRC4B 94030 broad.mit.edu 37 19 51021776 51021776 + Silent SNP C C T TCGA-CG-5734-01A-11D-1600-08 TCGA-CG-5734-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx fcf304f6-27f0-4e97-a070-78478cfb3f71 660f9d0f-0fc5-4eb7-b45e-561e05600357 g.chr19:51021776C>T uc002pss.2 - 3 1331 c.1194G>A c.(1192-1194)ACG>ACA p.T398T NM_001080457 NP_001073926 Q9NT99 LRC4B_HUMAN leucine rich repeat containing 4B precursor 398 Extracellular (Potential).|Ig-like C2-type. cell junction|integral to membrane|presynaptic membrane central_nervous_system(1)|skin(1) 2 all_neural(266;0.131) OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188) TGCCGTTGGGCGTCAGCCAGT 0.647000 NLRP5 126206 broad.mit.edu 37 19 56552381 56552381 + Missense_Mutation SNP C C A TCGA-CG-5734-01A-11D-1600-08 TCGA-CG-5734-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx fcf304f6-27f0-4e97-a070-78478cfb3f71 660f9d0f-0fc5-4eb7-b45e-561e05600357 g.chr19:56552381C>A uc002qmj.2 + 11 2880 c.2880C>A c.(2878-2880)AAC>AAA p.N960K NLRP5_uc002qmi.2_Missense_Mutation_p.N941K NM_153447 NP_703148 P59047 NALP5_HUMAN NACHT, LRR and PYD containing protein 5 960 LRR 8. mitochondrion|nucleolus ATP binding ovary(3)|skin(2)|kidney(1)|central_nervous_system(1) 7 Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0326) GCCTATCCAACAACAGCCTGG 0.577000 PRKCE 5581 broad.mit.edu 37 2 46203682 46203682 + Missense_Mutation SNP A A G TCGA-CG-5734-01A-11D-1600-08 TCGA-CG-5734-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx fcf304f6-27f0-4e97-a070-78478cfb3f71 660f9d0f-0fc5-4eb7-b45e-561e05600357 g.chr2:46203682A>G uc002rut.2 + 3 724 c.527A>G c.(526-528)TAT>TGT p.Y176C NM_005400 NP_005391 Q02156 KPCE_HUMAN protein kinase C, epsilon 176 Phorbol-ester/DAG-type 1. activation of phospholipase C activity|induction of apoptosis|intracellular signal transduction|nerve growth factor receptor signaling pathway|platelet activation cytosol|endoplasmic reticulum|plasma membrane ATP binding|enzyme activator activity|metal ion binding|signal transducer activity lung(4)|ovary(3)|kidney(1)|breast(1)|large_intestine(1) 10 all_hematologic(82;0.155)|Acute lymphoblastic leukemia(82;0.209) LUSC - Lung squamous cell carcinoma(58;0.171) ATGGCCACCTATCTTCGGCAG 0.562000 DNAH7 56171 broad.mit.edu 37 2 196765097 196765097 + Missense_Mutation SNP C C T TCGA-CG-5734-01A-11D-1600-08 TCGA-CG-5734-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx fcf304f6-27f0-4e97-a070-78478cfb3f71 660f9d0f-0fc5-4eb7-b45e-561e05600357 g.chr2:196765097C>T uc002utj.3 - 28 4558 c.4457G>A c.(4456-4458)CGC>CAC p.R1486H NM_018897 NP_061720 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 1486 AAA 1 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity skin(10)|ovary(2) 12 TGAACACAAGCGATACGTAGC 0.458000 BMPR2 659 broad.mit.edu 37 2 203378463 203378463 + Missense_Mutation SNP G G A TCGA-CG-5734-01A-11D-1600-08 TCGA-CG-5734-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx fcf304f6-27f0-4e97-a070-78478cfb3f71 660f9d0f-0fc5-4eb7-b45e-561e05600357 g.chr2:203378463G>A uc002uzf.3 + 4 1588 c.440G>A c.(439-441)CGA>CAA p.R147Q BMPR2_uc010ftr.2_Missense_Mutation_p.R147Q NM_001204 NP_001195 Q13873 BMPR2_HUMAN bone morphogenetic protein receptor type II 147 Extracellular (Potential). anterior/posterior pattern formation|BMP signaling pathway|cellular response to starvation|lung alveolus development|mesoderm formation|negative regulation of cell growth|negative regulation of systemic arterial blood pressure|negative regulation of vasoconstriction|positive regulation of BMP signaling pathway|positive regulation of bone mineralization|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of epithelial cell migration|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|regulation of lung blood pressure|transcription from RNA polymerase II promoter|vascular endothelial growth factor receptor signaling pathway integral to plasma membrane ATP binding|metal ion binding|transforming growth factor beta receptor activity ovary(4)|breast(2)|large_intestine(1)|stomach(1)|pancreas(1) 9 TCATTTAACCGAGATGAGACA 0.259000 GPBAR1 151306 broad.mit.edu 37 2 219128380 219128380 + Silent SNP C C T TCGA-CG-5734-01A-11D-1600-08 TCGA-CG-5734-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx fcf304f6-27f0-4e97-a070-78478cfb3f71 660f9d0f-0fc5-4eb7-b45e-561e05600357 g.chr2:219128380C>T uc010zjw.1 + 2 1180 c.933C>T c.(931-933)CCC>CCT p.P311P GPBAR1_uc010zjx.1_Silent_p.P311P|GPBAR1_uc010zjy.1_Silent_p.P311P NM_170699 NP_733800 Q8TDU6 GPBAR_HUMAN G protein-coupled bile acid receptor 1 311 Cytoplasmic (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity ovary(1) 1 Renal(207;0.0474) Epithelial(149;7.19e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) GGGACAGTCCCGGCCCCAGCA 0.642000 ZNF142 7701 broad.mit.edu 37 2 219508125 219508125 + Silent SNP G G C TCGA-CG-5734-01A-11D-1600-08 TCGA-CG-5734-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx fcf304f6-27f0-4e97-a070-78478cfb3f71 660f9d0f-0fc5-4eb7-b45e-561e05600357 g.chr2:219508125G>C uc002vin.2 - 8 3550 c.3114C>G c.(3112-3114)CTC>CTG p.L1038L ZNF142_uc002vil.2_Silent_p.L999L|ZNF142_uc010fvt.2_Silent_p.L875L|ZNF142_uc002vim.2_Silent_p.L875L NM_001105537 NP_001099007 P52746 ZN142_HUMAN zinc finger protein 142 1038 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|ovary(1)|skin(1) 4 Renal(207;0.0474) Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) TAATAGAGGAGAGCCGGGAAC 0.607000 TRIP12 9320 broad.mit.edu 37 2 230670450 230670450 + Silent SNP G G A TCGA-CG-5734-01A-11D-1600-08 TCGA-CG-5734-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx fcf304f6-27f0-4e97-a070-78478cfb3f71 660f9d0f-0fc5-4eb7-b45e-561e05600357 g.chr2:230670450G>A uc002vpw.1 - 17 2530 c.2421C>T c.(2419-2421)AAC>AAT p.N807N TRIP12_uc002vpx.1_Silent_p.N855N|TRIP12_uc002vpy.1_Silent_p.N537N|TRIP12_uc010zlz.1_Intron NM_004238 NP_004229 Q14669 TRIPC_HUMAN thyroid hormone receptor interactor 12 807 WWE. protein ubiquitination involved in ubiquitin-dependent protein catabolic process proteasome complex thyroid hormone receptor binding|ubiquitin-protein ligase activity ovary(4)|lung(2)|breast(1)|central_nervous_system(1)|skin(1) 9 Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164) Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116) ACTTACTAGTGTTACTATTGG 0.318000 PER2 8864 broad.mit.edu 37 2 239169471 239169471 + Missense_Mutation SNP C C A TCGA-CG-5734-01A-11D-1600-08 TCGA-CG-5734-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx fcf304f6-27f0-4e97-a070-78478cfb3f71 660f9d0f-0fc5-4eb7-b45e-561e05600357 g.chr2:239169471C>A uc002vyc.2 - 13 1777 c.1540G>T c.(1540-1542)GCC>TCC p.A514S PER2_uc010znv.1_Missense_Mutation_p.A514S NM_022817 NP_073728 O15055 PER2_HUMAN period 2 514 circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus protein binding|signal transducer activity upper_aerodigestive_tract(1)|breast(1) 2 Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244) Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161) AGACGTACGGCTCTCCTCCGG 0.567000 PREX1 57580 broad.mit.edu 37 20 47276504 47276504 + Missense_Mutation SNP G G A TCGA-CG-5734-01A-11D-1600-08 TCGA-CG-5734-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx fcf304f6-27f0-4e97-a070-78478cfb3f71 660f9d0f-0fc5-4eb7-b45e-561e05600357 g.chr20:47276504G>A uc002xtw.1 - 16 1857 c.1834C>T c.(1834-1836)CGC>TGC p.R612C NM_020820 NP_065871 Q8TCU6 PREX1_HUMAN phosphatidylinositol-3,4, 612 actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process cytosol|plasma membrane enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity lung(3)|ovary(2)|pancreas(1) 6 BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198) AAGTCGTTGCGAAGCTGTTTG 0.577000 APP 351 broad.mit.edu 37 21 27372462 27372462 + Silent SNP G G T TCGA-CG-5734-01A-11D-1600-08 TCGA-CG-5734-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx fcf304f6-27f0-4e97-a070-78478cfb3f71 660f9d0f-0fc5-4eb7-b45e-561e05600357 g.chr21:27372462G>T uc002ylz.2 - 7 1101 c.901C>A c.(901-903)CGA>AGA p.R301R APP_uc010glk.2_Silent_p.R296R|APP_uc002yma.2_Silent_p.R301R|APP_uc011ach.1_Silent_p.R245R|APP_uc002ymb.2_Intron|APP_uc010glj.2_Intron|APP_uc011aci.1_Intron NM_000484 NP_000475 P05067 A4_HUMAN amyloid beta A4 protein isoform a precursor 301 Extracellular (Potential).|BPTI/Kunitz inhibitor. Reactive bond. adult locomotory behavior|axon cargo transport|axon midline choice point recognition|cell adhesion|cellular copper ion homeostasis|collateral sprouting in absence of injury|dendrite development|endocytosis|extracellular matrix organization|G2 phase of mitotic cell cycle|innate immune response|ionotropic glutamate receptor signaling pathway|mating behavior|mRNA polyadenylation|neuron apoptosis|neuron remodeling|Notch signaling pathway|platelet activation|platelet degranulation|positive regulation of mitotic cell cycle|protein phosphorylation|regulation of epidermal growth factor receptor activity|regulation of multicellular organism growth|regulation of synapse structure and activity|regulation of translation|visual learning axon|cell surface|coated pit|dendritic shaft|dendritic spine|extracellular region|Golgi apparatus|integral to plasma membrane|platelet alpha granule lumen acetylcholine receptor binding|DNA binding|heparin binding|identical protein binding|metal ion binding|protein binding|protein binding|PTB domain binding|serine-type endopeptidase inhibitor activity ovary(1) 1 Breast(209;0.00295) ATCATTGCTCGGCACGGCCCC 0.517000 GRIK1 2897 broad.mit.edu 37 21 31015233 31015233 + Silent SNP C C T TCGA-CG-5734-01A-11D-1600-08 TCGA-CG-5734-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx fcf304f6-27f0-4e97-a070-78478cfb3f71 660f9d0f-0fc5-4eb7-b45e-561e05600357 g.chr21:31015233C>T uc002yno.1 - 7 1475 c.1011G>A c.(1009-1011)CGG>CGA p.R337R GRIK1_uc002ynn.2_Silent_p.R337R|GRIK1_uc011acs.1_Silent_p.R337R|GRIK1_uc011act.1_Silent_p.R281R|GRIK1_uc010glq.1_Silent_p.R195R|GRIK1_uc002ynr.2_Silent_p.R337R NM_000830 NP_000821 P39086 GRIK1_HUMAN glutamate receptor, ionotropic, kainate 1 337 Extracellular (Potential). central nervous system development|synaptic transmission cell junction|postsynaptic membrane kainate selective glutamate receptor activity large_intestine(1)|ovary(1)|skin(1) 3 L-Glutamic Acid(DB00142)|Topiramate(DB00273) GCTGGGATGCCCGGTGCGAGG 0.532000 KLHL22 84861 broad.mit.edu 37 22 20819530 20819530 + Missense_Mutation SNP T T C TCGA-CG-5734-01A-11D-1600-08 TCGA-CG-5734-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx fcf304f6-27f0-4e97-a070-78478cfb3f71 660f9d0f-0fc5-4eb7-b45e-561e05600357 g.chr22:20819530T>C uc002zsl.1 - 4 836 c.727A>G c.(727-729)ACA>GCA p.T243A KLHL22_uc011ahr.1_Missense_Mutation_p.T100A|KLHL22_uc002zsm.1_Missense_Mutation_p.T243A NM_032775 NP_116164 Q53GT1 KLH22_HUMAN kelch-like 243 cell division Cul3-RING ubiquitin ligase complex lung(1) 1 Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173) AACCGCACTGTCTCAAGGAGC 0.602000 GGT5 2687 broad.mit.edu 37 22 24621533 24621533 + Silent SNP G G A TCGA-CG-5734-01A-11D-1600-08 TCGA-CG-5734-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx fcf304f6-27f0-4e97-a070-78478cfb3f71 660f9d0f-0fc5-4eb7-b45e-561e05600357 g.chr22:24621533G>A uc002zzo.3 - 9 1734 c.1317C>T c.(1315-1317)TCC>TCT p.S439S GGT5_uc002zzp.3_Silent_p.S439S|GGT5_uc002zzr.3_Silent_p.S407S|GGT5_uc002zzq.3_Silent_p.S407S|GGT5_uc011ajm.1_Silent_p.S362S NM_004121 NP_004112 P36269 GGT5_HUMAN gamma-glutamyltransferase 5 isoform b 439 Extracellular (Potential). glutathione biosynthetic process|hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process integral to membrane|plasma membrane acyltransferase activity|gamma-glutamyltransferase activity ovary(2)|skin(1) 3 GGGTGGTGCCGGAACCCCGGG 0.647000 APOL6 80830 broad.mit.edu 37 22 36054692 36054692 + Silent SNP C C T rs140682432 TCGA-CG-5734-01A-11D-1600-08 TCGA-CG-5734-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx fcf304f6-27f0-4e97-a070-78478cfb3f71 660f9d0f-0fc5-4eb7-b45e-561e05600357 g.chr22:36054692C>T uc003aoe.2 + 3 375 c.81C>T c.(79-81)GAC>GAT p.D27D APOL6_uc003aod.2_RNA NM_030641 NP_085144 Q9BWW8 APOL6_HUMAN apolipoprotein L6 27 lipoprotein metabolic process cytoplasm|extracellular region lipid binding|lipid transporter activity 0 TGTGTGAAGACGTGGAGCTAC 0.438000 CNTN4 152330 broad.mit.edu 37 3 3085346 3085346 + Missense_Mutation SNP A A C TCGA-CG-5734-01A-11D-1600-08 TCGA-CG-5734-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx fcf304f6-27f0-4e97-a070-78478cfb3f71 660f9d0f-0fc5-4eb7-b45e-561e05600357 g.chr3:3085346A>C uc003bpc.2 + 22 2990 c.2769A>C c.(2767-2769)CAA>CAC p.Q923H CNTN4_uc003bpe.2_Missense_Mutation_p.Q595H|CNTN4_uc003bpf.2_Missense_Mutation_p.Q594H|CNTN4_uc003bpg.2_Missense_Mutation_p.Q179H NM_175607 NP_783200 Q8IWV2 CNTN4_HUMAN contactin 4 isoform a precursor 923 Fibronectin type-III 4. axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity anchored to membrane|axon|extracellular region|plasma membrane protein binding large_intestine(2)|ovary(2)|lung(1)|central_nervous_system(1)|pancreas(1) 7 Ovarian(110;0.156) Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01) ATTGGGATCAAGTGAAGGCCC 0.413000 TADA3 10474 broad.mit.edu 37 3 9832967 9832967 + Missense_Mutation SNP G G C TCGA-CG-5734-01A-11D-1600-08 TCGA-CG-5734-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx fcf304f6-27f0-4e97-a070-78478cfb3f71 660f9d0f-0fc5-4eb7-b45e-561e05600357 g.chr3:9832967G>C uc003bsx.1 - 2 732 c.184C>G c.(184-186)CGT>GGT p.R62G TADA3_uc010hcn.1_Missense_Mutation_p.R62G|TADA3_uc003bsy.2_Missense_Mutation_p.R62G|ARPC4_uc003bsz.1_5'Flank|ARPC4_uc003bta.1_5'Flank|ARPC4_uc003btb.1_5'Flank|ARPC4_uc003btc.1_5'Flank NM_006354 NP_006345 O75528 TADA3_HUMAN transcriptional adaptor 3 isoform a 62 Potential. estrogen receptor signaling pathway|histone H3 acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter Ada2/Gcn5/Ada3 transcription activator complex|STAGA complex|transcription factor TFTC complex ligand-dependent nuclear receptor binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity 0 TCAAGCACACGCAGGCGCCGG 0.602000 ATP2B2 491 broad.mit.edu 37 3 10387238 10387238 + Missense_Mutation SNP C C T TCGA-CG-5734-01A-11D-1600-08 TCGA-CG-5734-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx fcf304f6-27f0-4e97-a070-78478cfb3f71 660f9d0f-0fc5-4eb7-b45e-561e05600357 g.chr3:10387238C>T uc003bvt.2 - 18 2972 c.2533G>A c.(2533-2535)GCC>ACC p.A845T ATP2B2_uc003bvv.2_Missense_Mutation_p.A800T|ATP2B2_uc003bvw.2_Missense_Mutation_p.A800T|ATP2B2_uc010hdo.2_Missense_Mutation_p.A550T NM_001001331 NP_001001331 Q01814 AT2B2_HUMAN plasma membrane calcium ATPase 2 isoform 1 845 Cytoplasmic (Potential). ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation cytosol|integral to membrane|plasma membrane ATP binding|ATP binding|calcium ion binding|calcium-transporting ATPase activity|calcium-transporting ATPase activity|calmodulin binding|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding ovary(3)|skin(2)|central_nervous_system(1) 6 GCCTCCTTGGCCACGTCAGTG 0.592000 KIF15 56992 broad.mit.edu 37 3 44879787 44879787 + Silent SNP C C T TCGA-CG-5734-01A-11D-1600-08 TCGA-CG-5734-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx fcf304f6-27f0-4e97-a070-78478cfb3f71 660f9d0f-0fc5-4eb7-b45e-561e05600357 g.chr3:44879787C>T uc003cnx.3 + 27 3341 c.3192C>T c.(3190-3192)GAC>GAT p.D1064D KIF15_uc010hiq.2_Silent_p.D967D|KIF15_uc010hir.2_Silent_p.D112D NM_020242 NP_064627 Q9NS87 KIF15_HUMAN kinesin family member 15 1064 Potential. blood coagulation|cell proliferation|microtubule-based movement|mitosis centrosome|cytosol|microtubule|plus-end kinesin complex|spindle ATP binding|DNA binding|microtubule motor activity ovary(1) 1 BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707) TCTGTGAGGACCTGGCTCATG 0.453000 NIT2 56954 broad.mit.edu 37 3 100058731 100058731 + Nonsense_Mutation SNP C C T TCGA-CG-5734-01A-11D-1600-08 TCGA-CG-5734-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx fcf304f6-27f0-4e97-a070-78478cfb3f71 660f9d0f-0fc5-4eb7-b45e-561e05600357 g.chr3:100058731C>T uc003dtv.2 + 3 273 c.199C>T c.(199-201)CAG>TAG p.Q67* NIT2_uc011bha.1_Nonsense_Mutation_p.Q67* NM_020202 NP_064587 Q9NQR4 NIT2_HUMAN nitrilase family, member 2 67 CN hydrolase. nitrogen compound metabolic process omega-amidase activity ovary(1) 1 TGAATCCACACAGAAGCTTTC 0.353000 HCLS1 3059 broad.mit.edu 37 3 121350700 121350700 + Missense_Mutation SNP A A G TCGA-CG-5734-01A-11D-1600-08 TCGA-CG-5734-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx fcf304f6-27f0-4e97-a070-78478cfb3f71 660f9d0f-0fc5-4eb7-b45e-561e05600357 g.chr3:121350700A>G uc003eeh.3 - 14 1579 c.1454T>C c.(1453-1455)CTG>CCG p.L485P HCLS1_uc011bjj.1_Missense_Mutation_p.L448P NM_005335 NP_005326 P14317 HCLS1_HUMAN hematopoietic cell-specific Lyn substrate 1 485 SH3. erythrocyte differentiation|intracellular signal transduction|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of STAT protein|response to hormone stimulus mitochondrion|nucleus|plasma membrane DNA binding|sequence-specific DNA binding transcription factor activity 0 GBM - Glioblastoma multiforme(114;0.0912) TAGTCACTCCAGAAGCTTGAC 0.527000 DBR1 51163 broad.mit.edu 37 3 137892448 137892448 + Missense_Mutation SNP T T C TCGA-CG-5734-01A-11D-1600-08 TCGA-CG-5734-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx fcf304f6-27f0-4e97-a070-78478cfb3f71 660f9d0f-0fc5-4eb7-b45e-561e05600357 g.chr3:137892448T>C uc003erv.2 - 2 354 c.218A>G c.(217-219)AAG>AGG p.K73R DBR1_uc003eru.2_Missense_Mutation_p.K22R NM_016216 NP_057300 Q9UK59 DBR1_HUMAN debranching enzyme homolog 1 73 nucleus metal ion binding|RNA lariat debranching enzyme activity 0 AACTGGAGCCTTTTTCTCTCC 0.398000 SLIT2 9353 broad.mit.edu 37 4 20533667 20533667 + Silent SNP T T C TCGA-CG-5734-01A-11D-1600-08 TCGA-CG-5734-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx fcf304f6-27f0-4e97-a070-78478cfb3f71 660f9d0f-0fc5-4eb7-b45e-561e05600357 g.chr4:20533667T>C uc003gpr.1 + 17 1878 c.1674T>C c.(1672-1674)CCT>CCC p.P558P SLIT2_uc003gps.1_Silent_p.P550P NM_004787 NP_004778 O94813 SLIT2_HUMAN slit homolog 2 precursor 558 apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development cell surface|cytoplasm|extracellular space|plasma membrane calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding central_nervous_system(4)|skin(4)|ovary(3) 11 AGAAACTTCCTCAATTACGTA 0.294000 ANKRD17 26057 broad.mit.edu 37 4 73957913 73957913 + Missense_Mutation SNP C C T TCGA-CG-5734-01A-11D-1600-08 TCGA-CG-5734-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx fcf304f6-27f0-4e97-a070-78478cfb3f71 660f9d0f-0fc5-4eb7-b45e-561e05600357 g.chr4:73957913C>T uc003hgp.2 - 29 5549 c.5432G>A c.(5431-5433)AGC>AAC p.S1811N ANKRD17_uc003hgo.2_Missense_Mutation_p.S1698N|ANKRD17_uc003hgq.2_Missense_Mutation_p.S1560N|ANKRD17_uc003hgr.2_Missense_Mutation_p.S1810N NM_032217 NP_115593 O75179 ANR17_HUMAN ankyrin repeat domain protein 17 isoform a 1811 interspecies interaction between organisms cytoplasm|nucleus RNA binding ovary(5)|skin(3)|upper_aerodigestive_tract(1)|lung(1) 10 Breast(15;0.000295) Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) TGCTGAGGAGCTTTTCAAACG 0.388000 FRG2 448831 broad.mit.edu 37 4 190947541 190947541 + Missense_Mutation SNP G G T TCGA-CG-5734-01A-11D-1600-08 TCGA-CG-5734-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx fcf304f6-27f0-4e97-a070-78478cfb3f71 660f9d0f-0fc5-4eb7-b45e-561e05600357 g.chr4:190947541G>T uc003izv.2 - 3 382 c.329C>A c.(328-330)GCA>GAA p.A110E FRG2_uc011clh.1_Missense_Mutation_p.A111E NM_001005217 NP_001005217 Q64ET8 FRG2_HUMAN FSHD region gene 2 110 nucleus ovary(1) 1 all_cancers(14;1.01e-50)|all_epithelial(14;6.7e-35)|all_lung(41;2.17e-14)|Lung NSC(41;4.95e-14)|Breast(6;3.4e-05)|Melanoma(20;0.000539)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|all_hematologic(60;0.0489)|Prostate(90;0.0513) all cancers(3;3.83e-31)|Epithelial(3;1.36e-30)|OV - Ovarian serous cystadenocarcinoma(60;1.99e-15)|BRCA - Breast invasive adenocarcinoma(30;8.54e-06)|Lung(3;3.23e-05)|STAD - Stomach adenocarcinoma(60;8.24e-05)|LUSC - Lung squamous cell carcinoma(40;0.000184)|GBM - Glioblastoma multiforme(59;0.00831)|READ - Rectum adenocarcinoma(43;0.155) GATTCTACCTGCTGTGTCTTG 0.428000 BDP1 55814 broad.mit.edu 37 5 70763277 70763277 + Missense_Mutation SNP T T A TCGA-CG-5734-01A-11D-1600-08 TCGA-CG-5734-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx fcf304f6-27f0-4e97-a070-78478cfb3f71 660f9d0f-0fc5-4eb7-b45e-561e05600357 g.chr5:70763277T>A uc003kbp.1 + 6 1145 c.882T>A c.(880-882)TTT>TTA p.F294L BDP1_uc003kbn.1_Missense_Mutation_p.F294L|BDP1_uc003kbo.2_Missense_Mutation_p.F294L NM_018429 NP_060899 A6H8Y1 BDP1_HUMAN transcription factor-like nuclear regulator 294 Interaction with ZBTB43. regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter nucleoplasm DNA binding skin(2) 2 Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50) ACTCCAGCTTTAGGAAAAACT 0.323000 IL3 3562 broad.mit.edu 37 5 131398068 131398068 + Missense_Mutation SNP G G A TCGA-CG-5734-01A-11D-1600-08 TCGA-CG-5734-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx fcf304f6-27f0-4e97-a070-78478cfb3f71 660f9d0f-0fc5-4eb7-b45e-561e05600357 g.chr5:131398068G>A uc003kwe.1 + 3 321 c.268G>A c.(268-270)GCA>ACA p.A90T NM_000588 NP_000579 P08700 IL3_HUMAN interleukin 3 precursor 90 cell-cell signaling|immune response|nervous system development|positive regulation of cell proliferation|positive regulation of DNA replication|positive regulation of survival gene product expression|positive regulation of tyrosine phosphorylation of Stat5 protein extracellular space cytokine activity|growth factor activity|interleukin-3 receptor binding ovary(2)|central_nervous_system(1) 3 all_cancers(142;7.42e-12)|Lung NSC(810;4.25e-07)|all_lung(232;1.93e-06)|Prostate(281;0.00741)|Breast(839;0.0544)|Lung SC(612;0.122)|Ovarian(839;0.223) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) GBM - Glioblastoma multiforme(465;0.0161)|Lung(113;0.105) Amlexanox(DB01025) TTTACAGAACGCATCAGCAAT 0.512000 PCDHA4 56144 broad.mit.edu 37 5 140188293 140188293 + Silent SNP C C T TCGA-CG-5734-01A-11D-1600-08 TCGA-CG-5734-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx fcf304f6-27f0-4e97-a070-78478cfb3f71 660f9d0f-0fc5-4eb7-b45e-561e05600357 g.chr5:140188293C>T uc003lhi.2 + 1 1622 c.1521C>T c.(1519-1521)TAC>TAT p.Y507Y PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhh.1_Silent_p.Y507Y|PCDHA4_uc011daa.1_Silent_p.Y507Y NM_018907 NP_061730 Q9UN74 PCDA4_HUMAN protocadherin alpha 4 isoform 1 precursor 507 Cadherin 5.|Extracellular (Potential). homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding ovary(4)|skin(2) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGTCGAGCTACGTTTCGGTGC 0.662000 PCDHB6 56130 broad.mit.edu 37 5 140531925 140531925 + Missense_Mutation SNP C C T TCGA-CG-5734-01A-11D-1600-08 TCGA-CG-5734-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx fcf304f6-27f0-4e97-a070-78478cfb3f71 660f9d0f-0fc5-4eb7-b45e-561e05600357 g.chr5:140531925C>T uc003lir.2 + 1 2087 c.2087C>T c.(2086-2088)TCG>TTG p.S696L PCDHB6_uc011dah.1_Missense_Mutation_p.S560L NM_018939 NP_061762 Q9Y5E3 PCDB6_HUMAN protocadherin beta 6 precursor 696 Helical; (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding skin(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GCCTCGGTGTCGTCGCTCTTC 0.697000 PCDH1 5097 broad.mit.edu 37 5 141243883 141243883 + Silent SNP C C T TCGA-CG-5734-01A-11D-1600-08 TCGA-CG-5734-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx fcf304f6-27f0-4e97-a070-78478cfb3f71 660f9d0f-0fc5-4eb7-b45e-561e05600357 g.chr5:141243883C>T uc003llq.2 - 3 2130 c.2013G>A c.(2011-2013)CTG>CTA p.L671L PCDH1_uc003llp.2_Silent_p.L671L|PCDH1_uc011dbf.1_Silent_p.L649L NM_002587 NP_002578 Q08174 PCDH1_HUMAN protocadherin 1 isoform 1 precursor 671 Extracellular (Potential).|Cadherin 6. cell-cell signaling|homophilic cell adhesion|nervous system development cell-cell junction|integral to plasma membrane calcium ion binding ovary(5) 5 Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GBM - Glioblastoma multiforme(465;1.06e-05) GATCAAAGCTCAGGCTGGATA 0.547000 C1QTNF2 114898 broad.mit.edu 37 5 159776736 159776736 + Silent SNP G G A TCGA-CG-5734-01A-11D-1600-08 TCGA-CG-5734-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx fcf304f6-27f0-4e97-a070-78478cfb3f71 660f9d0f-0fc5-4eb7-b45e-561e05600357 g.chr5:159776736G>A uc003lyd.2 - 3 436 c.432C>T c.(430-432)GCC>GCT p.A144A NM_031908 NP_114114 Q9BXJ5 C1QT2_HUMAN C1q and tumor necrosis factor related protein 2 99 Collagen-like. collagen skin(1) 1 Renal(175;0.00196) Medulloblastoma(196;0.0354)|all_neural(177;0.116) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) CAATGGCCCCGGCTTTGCCCT 0.657000 UNC5A 90249 broad.mit.edu 37 5 176304597 176304597 + Missense_Mutation SNP G G A TCGA-CG-5734-01A-11D-1600-08 TCGA-CG-5734-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx fcf304f6-27f0-4e97-a070-78478cfb3f71 660f9d0f-0fc5-4eb7-b45e-561e05600357 g.chr5:176304597G>A uc003mey.2 + 10 1720 c.1528G>A c.(1528-1530)GTC>ATC p.V510I NM_133369 NP_588610 Q6ZN44 UNC5A_HUMAN netrin receptor Unc5h1 precursor 510 ZU5.|Cytoplasmic (Potential). apoptosis|axon guidance|regulation of apoptosis integral to membrane|plasma membrane skin(1) 1 all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115) Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) ACCCCCTGGCGTCCTGCTCAC 0.627000 MBOAT1 154141 broad.mit.edu 37 6 20124775 20124775 + Silent SNP C C T TCGA-CG-5734-01A-11D-1600-08 TCGA-CG-5734-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx fcf304f6-27f0-4e97-a070-78478cfb3f71 660f9d0f-0fc5-4eb7-b45e-561e05600357 g.chr6:20124775C>T uc003ncx.1 - 8 976 c.771G>A c.(769-771)ACG>ACA p.T257T MBOAT1_uc011dji.1_Silent_p.T108T NM_001080480 NP_001073949 Q6ZNC8 MBOA1_HUMAN membrane bound O-acyltransferase domain 257 Helical; (Potential). phospholipid biosynthetic process integral to membrane acyltransferase activity 0 all_cancers(95;0.244)|Breast(50;0.0379)|Ovarian(93;0.0473)|all_epithelial(95;0.109) OV - Ovarian serous cystadenocarcinoma(7;0.00392)|all cancers(50;0.0117)|Epithelial(50;0.0454) TCTTCGTTAGCGTCAAAAACA 0.478000 BTN2A2 10385 broad.mit.edu 37 6 26388369 26388369 + Missense_Mutation SNP C C T TCGA-CG-5734-01A-11D-1600-08 TCGA-CG-5734-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx fcf304f6-27f0-4e97-a070-78478cfb3f71 660f9d0f-0fc5-4eb7-b45e-561e05600357 g.chr6:26388369C>T uc003nhq.2 + 4 657 c.571C>T c.(571-573)CCC>TCC p.P191S BTN2A2_uc011dkf.1_Missense_Mutation_p.P75S|BTN2A2_uc011dkg.1_Intron|BTN2A2_uc003nhr.2_Missense_Mutation_p.P75S|BTN2A2_uc011dkh.1_Intron|BTN2A2_uc003nhs.2_Missense_Mutation_p.P191S|BTN2A2_uc003nht.2_Missense_Mutation_p.P191S|BTN2A2_uc011dki.1_5'Flank NM_006995 NP_008926 Q8WVV5 BT2A2_HUMAN butyrophilin, subfamily 2, member A2 isoform a 191 Extracellular (Potential).|Ig-like C2-type. negative regulation of activated T cell proliferation|negative regulation of cellular metabolic process|negative regulation of cytokine secretion integral to membrane 0 TGAGGTTGTGCCCGCCCTGAA 0.577000 OR12D3 81797 broad.mit.edu 37 6 29342887 29342887 + Missense_Mutation SNP A A C TCGA-CG-5734-01A-11D-1600-08 TCGA-CG-5734-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx fcf304f6-27f0-4e97-a070-78478cfb3f71 660f9d0f-0fc5-4eb7-b45e-561e05600357 g.chr6:29342887A>C uc003nme.2 - 1 182 c.178T>G c.(178-180)TTT>GTT p.F60V NM_030959 NP_112221 Q9UGF7 O12D3_HUMAN olfactory receptor, family 12, subfamily D, 60 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|breast(1) 3 TTTCCCAGAAAAAAATACATA 0.398000 BAT2 7916 broad.mit.edu 37 6 31604895 31604895 + Missense_Mutation SNP G G A TCGA-CG-5734-01A-11D-1600-08 TCGA-CG-5734-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx fcf304f6-27f0-4e97-a070-78478cfb3f71 660f9d0f-0fc5-4eb7-b45e-561e05600357 g.chr6:31604895G>A uc003nvb.3 + 29 6473 c.6224G>A c.(6223-6225)CGG>CAG p.R2075Q BAT2_uc003nvc.3_Missense_Mutation_p.R2075Q NM_080686 NP_542417 P48634 PRC2A_HUMAN HLA-B associated transcript-2 2075 3-3.|3 X 50 AA type C repeats. cytoplasm|nucleus protein binding 0 GGATCATCACGGACTCCCCCA 0.502000 CNR1 1268 broad.mit.edu 37 6 88854343 88854343 + Silent SNP G G A TCGA-CG-5734-01A-11D-1600-08 TCGA-CG-5734-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx fcf304f6-27f0-4e97-a070-78478cfb3f71 660f9d0f-0fc5-4eb7-b45e-561e05600357 g.chr6:88854343G>A uc011dzq.1 - 2 4214 c.651C>T c.(649-651)TCC>TCT p.S217S CNR1_uc010kbz.2_Silent_p.S217S|CNR1_uc011dzr.1_Silent_p.S217S|CNR1_uc011dzs.1_Silent_p.S217S|CNR1_uc003pmq.3_Silent_p.S217S|CNR1_uc011dzt.1_Silent_p.S217S|CNR1_uc010kca.2_Silent_p.S184S NM_001160260 NP_001153732 P21554 CNR1_HUMAN cannabinoid receptor 1 isoform a 217 Cytoplasmic (Potential). G-protein signaling, coupled to cAMP nucleotide second messenger integral to plasma membrane cannabinoid receptor activity|protein binding skin(2) 2 all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011) BRCA - Breast invasive adenocarcinoma(108;0.15) Marinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155) GCCTGTGAATGGATATGTACC 0.577000 MLLT4 4301 broad.mit.edu 37 6 168299060 168299060 + Missense_Mutation SNP A A C TCGA-CG-5734-01A-11D-1600-08 TCGA-CG-5734-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx fcf304f6-27f0-4e97-a070-78478cfb3f71 660f9d0f-0fc5-4eb7-b45e-561e05600357 g.chr6:168299060A>C uc003qwd.2 + 11 1632 c.1490A>C c.(1489-1491)AAG>ACG p.K497T MLLT4_uc003qwb.1_Missense_Mutation_p.K482T|MLLT4_uc003qwc.1_Missense_Mutation_p.K498T|MLLT4_uc003qwf.2_Missense_Mutation_p.K183T NM_001040001 NP_001035090 P55196 AFAD_HUMAN myeloid/lymphoid or mixed-lineage leukemia 498 adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction adherens junction|cell-cell junction|cytosol|nucleus protein C-terminus binding ovary(2)|lung(1)|kidney(1)|central_nervous_system(1) 5 Breast(66;1.07e-05)|Ovarian(120;0.024) Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117) CATGTATTTAAGTTTGTGGAC 0.488000 T MLL AL COL28A1 340267 broad.mit.edu 37 7 7421221 7421221 + Missense_Mutation SNP A A T TCGA-CG-5734-01A-11D-1600-08 TCGA-CG-5734-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx fcf304f6-27f0-4e97-a070-78478cfb3f71 660f9d0f-0fc5-4eb7-b45e-561e05600357 g.chr7:7421221A>T uc003src.1 - 28 2276 c.2159T>A c.(2158-2160)TTC>TAC p.F720Y COL28A1_uc011jxe.1_Missense_Mutation_p.F403Y NM_001037763 NP_001032852 Q2UY09 COSA1_HUMAN collagen, type XXVIII precursor 720 cell adhesion basement membrane|collagen serine-type endopeptidase inhibitor activity skin(3) 3 Ovarian(82;0.0789) UCEC - Uterine corpus endometrioid carcinoma (126;0.228) TGGGCCTGGGAAGCCTTGTGG 0.473000 AGR3 155465 broad.mit.edu 37 7 16900174 16900174 + Missense_Mutation SNP C C T TCGA-CG-5734-01A-11D-1600-08 TCGA-CG-5734-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx fcf304f6-27f0-4e97-a070-78478cfb3f71 660f9d0f-0fc5-4eb7-b45e-561e05600357 g.chr7:16900174C>T uc003sts.2 - 7 474 c.401G>A c.(400-402)GGA>GAA p.G134E NM_176813 NP_789783 Q8TD06 AGR3_HUMAN breast cancer membrane protein 11 precursor 134 extracellular region 0 Lung NSC(10;0.0376)|all_lung(11;0.0721)|all_epithelial(12;0.202) UCEC - Uterine corpus endometrioid carcinoma (126;0.184) AGAGTATCTTCCAGCTATGTC 0.378000 KBTBD2 25948 broad.mit.edu 37 7 32910203 32910203 + Missense_Mutation SNP C C T TCGA-CG-5734-01A-11D-1600-08 TCGA-CG-5734-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx fcf304f6-27f0-4e97-a070-78478cfb3f71 660f9d0f-0fc5-4eb7-b45e-561e05600357 g.chr7:32910203C>T uc003tdb.2 - 4 1285 c.626G>A c.(625-627)CGA>CAA p.R209Q AVL9_uc011kai.1_Intron NM_015483 NP_056298 Q8IY47 KBTB2_HUMAN kelch repeat and BTB (POZ) domain containing 2 209 0 GBM - Glioblastoma multiforme(11;0.0499) ATACTGGGATCGTGATTCTGT 0.398000 CLIP2 7461 broad.mit.edu 37 7 73753314 73753314 + Missense_Mutation SNP C C T TCGA-CG-5734-01A-11D-1600-08 TCGA-CG-5734-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx fcf304f6-27f0-4e97-a070-78478cfb3f71 660f9d0f-0fc5-4eb7-b45e-561e05600357 g.chr7:73753314C>T uc003uam.2 + 3 985 c.658C>T c.(658-660)CGC>TGC p.R220C CLIP2_uc003uan.2_Missense_Mutation_p.R220C NM_003388 NP_003379 Q9UDT6 CLIP2_HUMAN CAP-GLY domain containing linker protein 2 220 microtubule associated complex skin(3) 3 AAAGGACCTGCGCCTGGGGGA 0.672000 PCLO 27445 broad.mit.edu 37 7 82582923 82582923 + Missense_Mutation SNP A A C TCGA-CG-5734-01A-11D-1600-08 TCGA-CG-5734-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx fcf304f6-27f0-4e97-a070-78478cfb3f71 660f9d0f-0fc5-4eb7-b45e-561e05600357 g.chr7:82582923A>C uc003uhx.2 - 5 7635 c.7346T>G c.(7345-7347)GTG>GGG p.V2449G PCLO_uc003uhv.2_Missense_Mutation_p.V2449G|PCLO_uc010lec.2_5'Flank NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN piccolo isoform 1 2380 Pro-rich. cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity ovary(7) 7 AGCTGTAGTCACTGGAGATGC 0.308000 GNGT1 2792 broad.mit.edu 37 7 93536131 93536131 + Nonsense_Mutation SNP G G T TCGA-CG-5734-01A-11D-1600-08 TCGA-CG-5734-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx fcf304f6-27f0-4e97-a070-78478cfb3f71 660f9d0f-0fc5-4eb7-b45e-561e05600357 g.chr7:93536131G>T uc003unc.1 + 2 221 c.73G>T c.(73-75)GAA>TAA p.E25* GNGT1_uc003umx.1_RNA NM_021955 NP_068774 P63211 GBG1_HUMAN guanine nucleotide binding protein (G protein), 25 G-protein coupled receptor protein signaling pathway|synaptic transmission heterotrimeric G-protein complex GTPase activity|signal transducer activity 0 all_cancers(62;2.39e-10)|all_epithelial(64;1.54e-09)|Lung NSC(181;0.218) STAD - Stomach adenocarcinoma(171;0.000967) GCTCAAGAAAGAAGTGACACT 0.388000 SND1 27044 broad.mit.edu 37 7 127725833 127725833 + Splice_Site SNP G G A TCGA-CG-5734-01A-11D-1600-08 TCGA-CG-5734-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx fcf304f6-27f0-4e97-a070-78478cfb3f71 660f9d0f-0fc5-4eb7-b45e-561e05600357 g.chr7:127725833G>A uc003vmi.2 + 20 2530 c.2304_splice c.e20+1 p.N768_splice SND1_uc010lle.2_Splice_Site_p.N421_splice NM_014390 NP_055205 Q7KZF4 SND1_HUMAN staphylococcal nuclease domain containing 1 gene silencing by RNA|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent melanosome|nucleus|RNA-induced silencing complex nuclease activity|nucleic acid binding|protein binding|transcription cofactor activity ovary(2)|central_nervous_system(1) 3 CTACGGCAACGTGAGTGTTGG 0.517000 OPN1SW 611 broad.mit.edu 37 7 128412618 128412618 + Silent SNP C C T rs140568559 byFrequency TCGA-CG-5734-01A-11D-1600-08 TCGA-CG-5734-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx fcf304f6-27f0-4e97-a070-78478cfb3f71 660f9d0f-0fc5-4eb7-b45e-561e05600357 g.chr7:128412618C>T uc003vnt.3 - 5 1023 c.1023G>A c.(1021-1023)TCG>TCA p.S341S NM_001708 NP_001699 P03999 OPSB_HUMAN opsin 1 (cone pigments), short-wave-sensitive 341 Cytoplasmic (Potential). phototransduction|protein-chromophore linkage|visual perception integral to plasma membrane G-protein coupled receptor activity|photoreceptor activity 0 CTTGGGTAGACGAGACAGTAG 0.443000 RP1L1 94137 broad.mit.edu 37 8 10468213 10468213 + Missense_Mutation SNP A A G TCGA-CG-5734-01A-11D-1600-08 TCGA-CG-5734-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx fcf304f6-27f0-4e97-a070-78478cfb3f71 660f9d0f-0fc5-4eb7-b45e-561e05600357 g.chr8:10468213A>G uc003wtc.2 - 4 3624 c.3395T>C c.(3394-3396)CTT>CCT p.L1132P NM_178857 NP_849188 Q8IWN7 RP1L1_HUMAN retinitis pigmentosa 1-like 1 1132 intracellular signal transduction ovary(4)|breast(3)|central_nervous_system(1) 8 COAD - Colon adenocarcinoma(149;0.0811) AGGAGACCCAAGGTCTTCCTC 0.587000 NRG1 3084 broad.mit.edu 37 8 32617821 32617821 + Silent SNP A A C TCGA-CG-5734-01A-11D-1600-08 TCGA-CG-5734-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx fcf304f6-27f0-4e97-a070-78478cfb3f71 660f9d0f-0fc5-4eb7-b45e-561e05600357 g.chr8:32617821A>C uc003xiv.2 + 11 1682 c.1165A>C c.(1165-1167)AGA>CGA p.R389R NRG1_uc011lbf.1_Silent_p.R386R|NRG1_uc010lvo.2_Silent_p.R386R|NRG1_uc003xiu.2_Silent_p.R394R|NRG1_uc003xiw.2_Silent_p.R386R|NRG1_uc003xit.2_Silent_p.R389R|NRG1_uc010lvr.2_Silent_p.R131R|NRG1_uc010lvs.2_Silent_p.R131R|NRG1_uc010lvp.2_Silent_p.R343R|NRG1_uc010lvq.2_Silent_p.R326R|NRG1_uc011lbg.1_Silent_p.R235R|NRG1_uc011lbh.1_Silent_p.R232R|NRG1_uc003xja.2_Silent_p.R200R NM_013964 NP_039258 Q02297 NRG1_HUMAN neuregulin 1 isoform HRG-alpha 389 Cytoplasmic (Potential). activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing|wound healing apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane cytokine activity|ErbB-3 class receptor binding|growth factor activity|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity 0 Breast(100;0.203) KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943) TGGGGGCCCAAGAGGACGTCT 0.527000 AP3M2 10947 broad.mit.edu 37 8 42012342 42012342 + Missense_Mutation SNP C C T TCGA-CG-5734-01A-11D-1600-08 TCGA-CG-5734-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx fcf304f6-27f0-4e97-a070-78478cfb3f71 660f9d0f-0fc5-4eb7-b45e-561e05600357 g.chr8:42012342C>T uc003xop.2 + 3 428 c.137C>T c.(136-138)CCT>CTT p.P46L AP3M2_uc003xoo.2_Missense_Mutation_p.P46L|AP3M2_uc010lxe.2_RNA|AP3M2_uc003xoq.1_5'UTR|AP3M2_uc003xor.1_Missense_Mutation_p.P46L NM_001134296 NP_001127768 P53677 AP3M2_HUMAN adaptor-related protein complex 3, mu 2 subunit 46 intracellular protein transport|vesicle-mediated transport clathrin adaptor complex|Golgi apparatus 0 all_cancers(6;8.14e-25)|all_epithelial(6;2.41e-27)|all_lung(13;5.09e-13)|Lung NSC(13;8.38e-12)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0221)|Lung SC(25;0.211) all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Esophageal squamous(32;0.0954)|Renal(179;0.0983) BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|Colorectal(10;0.00165)|OV - Ovarian serous cystadenocarcinoma(14;0.00346)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024) GAAAATGTGCCTCCGGTTATC 0.483000 PXDNL 137902 broad.mit.edu 37 8 52321476 52321476 + Missense_Mutation SNP G G A TCGA-CG-5734-01A-11D-1600-08 TCGA-CG-5734-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx fcf304f6-27f0-4e97-a070-78478cfb3f71 660f9d0f-0fc5-4eb7-b45e-561e05600357 g.chr8:52321476G>A uc003xqu.3 - 17 2809 c.2708C>T c.(2707-2709)TCG>TTG p.S903L PXDNL_uc003xqt.3_RNA NM_144651 NP_653252 A1KZ92 PXDNL_HUMAN peroxidasin homolog-like precursor 903 hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity ovary(1)|pancreas(1) 2 all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015) TTCCCGCTCCGAGCTCCCGTA 0.597000 PCMTD1 115294 broad.mit.edu 37 8 52773689 52773690 + Missense_Mutation DNP CC CC AA TCGA-CG-5734-01A-11D-1600-08 TCGA-CG-5734-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx fcf304f6-27f0-4e97-a070-78478cfb3f71 660f9d0f-0fc5-4eb7-b45e-561e05600357 g.chr8:52773689_52773690CC>AA uc003xqx.3 - 2 363_364 c.22_23GG>TT c.(22-24)GGG>TTG p.G8L PCMTD1_uc003xqw.3_Missense_Mutation_p.G8L|PCMTD1_uc011ldn.1_Intron|PCMTD1_uc010lya.2_Intron|PCMTD1_uc011ldo.1_Missense_Mutation_p.G8L NM_052937 NP_443169 Q96MG8 PCMD1_HUMAN protein-L-isoaspartate (D-aspartate) 8 cytoplasm protein-L-isoaspartate (D-aspartate) O-methyltransferase activity 0 Lung NSC(129;0.0795)|all_lung(136;0.144) ATTATCTTCCCCAGCACTCACA 0.347000 PREX2 80243 broad.mit.edu 37 8 69032431 69032431 + Missense_Mutation SNP G G T TCGA-CG-5734-01A-11D-1600-08 TCGA-CG-5734-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx fcf304f6-27f0-4e97-a070-78478cfb3f71 660f9d0f-0fc5-4eb7-b45e-561e05600357 g.chr8:69032431G>T uc003xxv.1 + 29 3532 c.3505G>T c.(3505-3507)GTG>TTG p.V1169L NM_024870 NP_079146 Q70Z35 PREX2_HUMAN DEP domain containing 2 isoform a 1169 G-protein coupled receptor protein signaling pathway|intracellular signal transduction intracellular protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity skin(6)|large_intestine(4)|pancreas(3)|lung(2)|ovary(1)|kidney(1) 17 CTATTGATAGGTGGATTCAAT 0.368000 TM7SF4 81501 broad.mit.edu 37 8 105368424 105368424 + Nonstop_Mutation SNP T T C TCGA-CG-5734-01A-11D-1600-08 TCGA-CG-5734-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx fcf304f6-27f0-4e97-a070-78478cfb3f71 660f9d0f-0fc5-4eb7-b45e-561e05600357 g.chr8:105368424T>C uc003ylx.1 + 4 1460 c.1411T>C c.(1411-1413)TGA>CGA p.*471R NM_030788 NP_110415 Q9H295 TM7S4_HUMAN dendritic cell-specific transmembrane protein 471 osteoclast differentiation cell surface|integral to membrane|plasma membrane pancreas(2)|large_intestine(1)|ovary(1) 4 OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229) AGACAAGTCATGAGAGACCCC 0.448000 CSMD3 114788 broad.mit.edu 37 8 113256718 113256718 + Missense_Mutation SNP T T C TCGA-CG-5734-01A-11D-1600-08 TCGA-CG-5734-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx fcf304f6-27f0-4e97-a070-78478cfb3f71 660f9d0f-0fc5-4eb7-b45e-561e05600357 g.chr8:113256718T>C uc003ynu.2 - 65 10466 c.10307A>G c.(10306-10308)TAT>TGT p.Y3436C CSMD3_uc003yns.2_Missense_Mutation_p.Y2638C|CSMD3_uc003ynt.2_Missense_Mutation_p.Y3396C|CSMD3_uc011lhx.1_Missense_Mutation_p.Y3267C NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 3436 Extracellular (Potential).|Sushi 28. integral to membrane|plasma membrane ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1) 63 CTGACAGGTATAAATCAGTGT 0.443000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) COL14A1 7373 broad.mit.edu 37 8 121222070 121222070 + Missense_Mutation SNP T T C TCGA-CG-5734-01A-11D-1600-08 TCGA-CG-5734-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx fcf304f6-27f0-4e97-a070-78478cfb3f71 660f9d0f-0fc5-4eb7-b45e-561e05600357 g.chr8:121222070T>C uc003yox.2 + 12 1662 c.1397T>C c.(1396-1398)GTG>GCG p.V466A COL14A1_uc003yoy.2_Missense_Mutation_p.V144A|COL14A1_uc010mde.1_Missense_Mutation_p.V144A NM_021110 NP_066933 Q05707 COEA1_HUMAN collagen, type XIV, alpha 1 precursor 466 Fibronectin type-III 3. cell-cell adhesion|collagen fibril organization collagen type XIV|extracellular space collagen binding|extracellular matrix structural constituent|protein binding, bridging ovary(4)|kidney(4)|skin(2)|pancreas(1)|central_nervous_system(1) 12 Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161) OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503) TGGGATGCAGTGCCTGGGGCC 0.473000 KIAA1797 54914 broad.mit.edu 37 9 20720434 20720434 + Missense_Mutation SNP G G A rs143009945 TCGA-CG-5734-01A-11D-1600-08 TCGA-CG-5734-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx fcf304f6-27f0-4e97-a070-78478cfb3f71 660f9d0f-0fc5-4eb7-b45e-561e05600357 g.chr9:20720434G>A uc003zog.1 + 6 551 c.188G>A c.(187-189)CGA>CAA p.R63Q NM_017794 NP_060264 Q5VW36 K1797_HUMAN hypothetical protein LOC54914 63 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) GTAGTGGTTCGAACAGCCTGC 0.468000 SLC35D2 11046 broad.mit.edu 37 9 99086398 99086398 + Missense_Mutation SNP G G T rs145290742 TCGA-CG-5734-01A-11D-1600-08 TCGA-CG-5734-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx fcf304f6-27f0-4e97-a070-78478cfb3f71 660f9d0f-0fc5-4eb7-b45e-561e05600357 g.chr9:99086398G>T uc004awc.2 - 10 882 c.806C>A c.(805-807)ACG>AAG p.T269K SLC35D2_uc010msd.2_RNA|SLC35D2_uc010mse.2_Missense_Mutation_p.T222K|SLC35D2_uc010msf.2_Missense_Mutation_p.T181K|SLC35D2_uc004awd.2_Missense_Mutation_p.D111E NM_007001 NP_008932 Q76EJ3 S35D2_HUMAN solute carrier family 35, member D2 269 Helical; (Potential). Golgi membrane|integral to membrane nucleotide-sugar transmembrane transporter activity 0 Acute lymphoblastic leukemia(62;0.0167) CACTGCTGTCGTCAGGGCTGA 0.512000 ASTN2 23245 broad.mit.edu 37 9 119380718 119380718 + Missense_Mutation SNP A A T TCGA-CG-5734-01A-11D-1600-08 TCGA-CG-5734-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx fcf304f6-27f0-4e97-a070-78478cfb3f71 660f9d0f-0fc5-4eb7-b45e-561e05600357 g.chr9:119380718A>T uc004bjs.1 - 19 3341 c.3240T>A c.(3238-3240)AGT>AGA p.S1080R ASTN2_uc004bjr.1_Missense_Mutation_p.S1076R|ASTN2_uc004bjt.1_Missense_Mutation_p.S1029R|ASTN2_uc004bjp.1_Missense_Mutation_p.S173R|ASTN2_uc004bjq.1_Missense_Mutation_p.S132R|ASTN2_uc011lxr.1_Missense_Mutation_p.S132R|ASTN2_uc011lxs.1_Missense_Mutation_p.S132R|ASTN2_uc011lxt.1_Missense_Mutation_p.S132R|ASTN2_uc004bjv.1_Missense_Mutation_p.S132R NM_198187 NP_937830 O75129 ASTN2_HUMAN astrotactin 2 isoform c 1080 Extracellular (Potential).|Fibronectin type-III. integral to membrane skin(4)|ovary(3)|breast(1)|kidney(1) 9 AGACCACAGTACTGGAGGGCT 0.527000 SETX 23064 broad.mit.edu 37 9 135205649 135205649 + Nonsense_Mutation SNP G G A TCGA-CG-5734-01A-11D-1600-08 TCGA-CG-5734-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx fcf304f6-27f0-4e97-a070-78478cfb3f71 660f9d0f-0fc5-4eb7-b45e-561e05600357 g.chr9:135205649G>A uc004cbk.2 - 10 1519 c.1336C>T c.(1336-1338)CAA>TAA p.Q446* SETX_uc004cbj.2_Nonsense_Mutation_p.Q65*|SETX_uc010mzt.2_Nonsense_Mutation_p.Q65* NM_015046 NP_055861 Q7Z333 SETX_HUMAN senataxin 446 cell death|double-strand break repair|RNA processing cytoplasm|nucleolus|nucleoplasm ATP binding|DNA helicase activity ovary(2)|skin(1) 3 Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171) GCATCTGTTTGGTTGAGGACT 0.383000 CLCN5 1184 broad.mit.edu 37 X 49854898 49854898 + Missense_Mutation SNP C C T TCGA-CG-5734-01A-11D-1600-08 TCGA-CG-5734-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx fcf304f6-27f0-4e97-a070-78478cfb3f71 660f9d0f-0fc5-4eb7-b45e-561e05600357 g.chrX:49854898C>T uc004dos.1 + 10 1908 c.1660C>T c.(1660-1662)CGG>TGG p.R554W CLCN5_uc004dor.1_Missense_Mutation_p.R624W|CLCN5_uc004doq.1_Missense_Mutation_p.R624W|CLCN5_uc004dot.1_Missense_Mutation_p.R554W NM_000084 NP_000075 P51795 CLCN5_HUMAN chloride channel 5 isoform b 554 Cytoplasmic (By similarity). excretion apical part of cell|endosome membrane|Golgi membrane|integral to plasma membrane antiporter activity|ATP binding ovary(2)|lung(1)|central_nervous_system(1) 4 Ovarian(276;0.236) TGCTCTTGGGCGGGAGGGCAT 0.488000 ZCCHC5 203430 broad.mit.edu 37 X 77912678 77912678 + Missense_Mutation SNP T T A TCGA-CG-5734-01A-11D-1600-08 TCGA-CG-5734-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx fcf304f6-27f0-4e97-a070-78478cfb3f71 660f9d0f-0fc5-4eb7-b45e-561e05600357 g.chrX:77912678T>A uc004edc.1 - 2 1536 c.1240A>T c.(1240-1242)AGT>TGT p.S414C NM_152694 NP_689907 Q8N8U3 ZCHC5_HUMAN zinc finger, CCHC domain containing 5 414 nucleic acid binding|zinc ion binding ovary(1) 1 GCTGGTGGACTCTCGGGTCCA 0.517000 BRWD3 254065 broad.mit.edu 37 X 79932138 79932138 + Silent SNP C C T TCGA-CG-5734-01A-11D-1600-08 TCGA-CG-5734-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx fcf304f6-27f0-4e97-a070-78478cfb3f71 660f9d0f-0fc5-4eb7-b45e-561e05600357 g.chrX:79932138C>T uc004edt.2 - 41 5642 c.5379G>A c.(5377-5379)AGG>AGA p.R1793R BRWD3_uc010nmi.1_RNA|BRWD3_uc004edo.2_Silent_p.R1389R|BRWD3_uc004edp.2_Silent_p.R1622R|BRWD3_uc004edq.2_Silent_p.R1389R|BRWD3_uc010nmj.1_Silent_p.R1389R|BRWD3_uc004edr.2_Silent_p.R1463R|BRWD3_uc004eds.2_Silent_p.R1389R|BRWD3_uc004edu.2_Silent_p.R1463R|BRWD3_uc004edv.2_Silent_p.R1389R|BRWD3_uc004edw.2_Silent_p.R1389R|BRWD3_uc004edx.2_Silent_p.R1389R|BRWD3_uc004edy.2_Silent_p.R1389R|BRWD3_uc004edz.2_Silent_p.R1463R|BRWD3_uc004eea.2_Silent_p.R1463R|BRWD3_uc004eeb.2_Silent_p.R1389R|uc004edn.1_5'Flank NM_153252 NP_694984 Q6RI45 BRWD3_HUMAN bromodomain and WD repeat domain containing 3 1793 ovary(4) 4 GATGGCTAACCCTGGCTTTTT 0.368000 GPR112 139378 broad.mit.edu 37 X 135455081 135455081 + Missense_Mutation SNP G G A TCGA-CG-5734-01A-11D-1600-08 TCGA-CG-5734-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx fcf304f6-27f0-4e97-a070-78478cfb3f71 660f9d0f-0fc5-4eb7-b45e-561e05600357 g.chrX:135455081G>A uc004ezu.1 + 15 7925 c.7634G>A c.(7633-7635)CGT>CAT p.R2545H GPR112_uc010nsb.1_Missense_Mutation_p.R2340H NM_153834 NP_722576 Q8IZF6 GP112_HUMAN G-protein coupled receptor 112 2545 Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity ovary(5)|large_intestine(2)|skin(2)|lung(1)|breast(1)|pancreas(1) 12 Acute lymphoblastic leukemia(192;0.000127) ATAATTGAGCGTACTGGTCAC 0.488000 G6PD 2539 broad.mit.edu 37 X 153760800 153760800 + Silent SNP G G A TCGA-CG-5734-01A-11D-1600-08 TCGA-CG-5734-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx fcf304f6-27f0-4e97-a070-78478cfb3f71 660f9d0f-0fc5-4eb7-b45e-561e05600357 g.chrX:153760800G>A uc004fly.1 - 10 1382 c.1269C>T c.(1267-1269)ACC>ACT p.T423T G6PD_uc004flx.1_Silent_p.T453T NM_001042351 NP_001035810 P11413 G6PD_HUMAN glucose-6-phosphate dehydrogenase isoform b 423 cellular response to oxidative stress|cholesterol biosynthetic process|cytokine production|erythrocyte maturation|glucose 6-phosphate metabolic process|glutathione metabolic process|negative regulation of protein glutathionylation|pentose-phosphate shunt, oxidative branch|ribose phosphate biosynthetic process centrosome|cytosol|internal side of plasma membrane|intracellular membrane-bounded organelle glucose binding|glucose-6-phosphate dehydrogenase activity|NADP binding|protein homodimerization activity ovary(4) 4 all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-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) TGTTGCCGTAGGTCAGGTCCA 0.622000 PCDH1 5097 broad.mit.edu 37 5 141244796 141244796 + Frame_Shift_Del DEL T T - TCGA-CG-5734-01A-11D-1600-08 TCGA-CG-5734-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx fcf304f6-27f0-4e97-a070-78478cfb3f71 660f9d0f-0fc5-4eb7-b45e-561e05600357 g.chr5:141244795_141244795CT>C uc003llp.3 - 2 1218 c.1101_1101AG>G c.(1099-1101)aagfs p.K367fs PCDH1_uc011dbf.2_Frame_Shift_Del_p.K345fs|PCDH1_uc003llq.3_Frame_Shift_Del_p.K367fs NM_032420 NP_115796 Q08174 PCDH1_HUMAN Homo sapiens protocadherin 1 (PCDH1), transcript variant 2, mRNA. 367 Cadherin 3. cell-cell signaling|homophilic cell adhesion|nervous system development cell-cell junction|integral to plasma membrane calcium ion binding breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1) 51 Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GBM - Glioblastoma multiforme(465;1.06e-05) CACGGGCACTCTTGGGGTTGG 0.577