Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_status validation_method validation_tumor_sample validation_alt_allele pox qox isArtifactMode oxoGCut RCC2 55920 broad.mit.edu 37 1 17743045 17743045 + Silent SNP C C T rs11588635 byFrequency TCGA-BA-5555-01A-01D-1512-08 TCGA-BA-5555-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 65dc1531-713b-41ba-a567-caa12340c0cf 7c55fb6b-c9eb-4d2c-bd12-52d94e821743 g.chr1:17743045C>T uc001bal.2 - 7 1004 c.957G>A c.(955-957)ACG>ACA p.T319T RCC2_uc001bam.2_Silent_p.T319T NM_001136204 NP_001129676 Q9P258 RCC2_HUMAN regulator of chromosome condensation 2 319 RCC1 4. cell division|mitotic prometaphase chromosome, centromeric region|cytosol|microtubule|nucleolus|spindle 0 Colorectal(325;0.000147)|Breast(348;0.00122)|Renal(390;0.00145)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439) UCEC - Uterine corpus endometrioid carcinoma (279;0.00492)|BRCA - Breast invasive adenocarcinoma(304;7.69e-06)|COAD - Colon adenocarcinoma(227;1.19e-05)|Kidney(64;0.000189)|KIRC - Kidney renal clear cell carcinoma(64;0.00273)|STAD - Stomach adenocarcinoma(196;0.0135)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.19) GTCCATCTTTCGTCTTCTCAA 0.547 NA 7 99 0 0 0 0 PHC2 1912 broad.mit.edu 37 1 33820075 33820075 + Silent SNP C C T TCGA-BA-5555-01A-01D-1512-08 TCGA-BA-5555-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 65dc1531-713b-41ba-a567-caa12340c0cf 7c55fb6b-c9eb-4d2c-bd12-52d94e821743 g.chr1:33820075C>T uc001bxg.1 - 8 1536 c.1482G>A c.(1480-1482)CAG>CAA p.Q494Q PHC2_uc001bxh.1_Silent_p.Q466Q|PHC2_uc009vuh.1_Silent_p.Q495Q NM_198040 NP_932157 Q8IXK0 PHC2_HUMAN polyhomeotic-like 2 isoform a 494 multicellular organismal development PcG protein complex DNA binding|identical protein binding|zinc ion binding ovary(1) 1 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211) TGACAATAGCCTGCTGATGTG 0.607 NA 43 63 0 0 0 0 DMRTB1 63948 broad.mit.edu 37 1 53925281 53925281 + Missense_Mutation SNP C C A TCGA-BA-5555-01A-01D-1512-08 TCGA-BA-5555-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 65dc1531-713b-41ba-a567-caa12340c0cf 7c55fb6b-c9eb-4d2c-bd12-52d94e821743 g.chr1:53925281C>A uc001cvq.1 + 1 210 c.155C>A c.(154-156)GCG>GAG p.A52E NM_033067 NP_149056 Q96MA1 DMRTB_HUMAN DMRT-like family B with proline-rich C-terminal, 52 DM. sex differentiation nucleus DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity ovary(1)|skin(1) 2 ATCATGGCCGCGCAGAAGGTG 0.637 NA 4 8 0.00909568 0.00951273 1 0 SSX2IP 117178 broad.mit.edu 37 1 85135504 85135504 + Missense_Mutation SNP T T C TCGA-BA-5555-01A-01D-1512-08 TCGA-BA-5555-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 65dc1531-713b-41ba-a567-caa12340c0cf 7c55fb6b-c9eb-4d2c-bd12-52d94e821743 g.chr1:85135504T>C uc001dkh.2 - 5 561 c.286A>G c.(286-288)ATA>GTA p.I96V SSX2IP_uc001dkf.2_Missense_Mutation_p.I69V|SSX2IP_uc001dkg.2_RNA|SSX2IP_uc010orz.1_Missense_Mutation_p.I69V|SSX2IP_uc001dki.2_Missense_Mutation_p.I96V|SSX2IP_uc010osa.1_Missense_Mutation_p.I69V|SSX2IP_uc001dkj.2_Missense_Mutation_p.I96V|SSX2IP_uc009wci.2_Intron|SSX2IP_uc001dkk.1_Missense_Mutation_p.I92V NM_014021 NP_054740 Q9Y2D8 ADIP_HUMAN synovial sarcoma, X breakpoint 2 interacting 96 cell adhesion nucleus|protein complex ovary(2) 2 all cancers(265;0.0053)|Epithelial(280;0.0214)|OV - Ovarian serous cystadenocarcinoma(397;0.173) ACAGCTACTATATTTAACTCT 0.368 NA 67 107 0 0 0 0 SH3GLB1 51100 broad.mit.edu 37 1 87188228 87188228 + Missense_Mutation SNP G G A TCGA-BA-5555-01A-01D-1512-08 TCGA-BA-5555-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 65dc1531-713b-41ba-a567-caa12340c0cf 7c55fb6b-c9eb-4d2c-bd12-52d94e821743 g.chr1:87188228G>A uc001dlw.2 + 4 675 c.349G>A c.(349-351)GCC>ACC p.A117T SH3GLB1_uc001dlx.2_Missense_Mutation_p.A117T|SH3GLB1_uc001dly.2_Missense_Mutation_p.A117T|SH3GLB1_uc001dlz.2_Missense_Mutation_p.A17T NM_016009 NP_057093 Q9Y371 SHLB1_HUMAN SH3-containing protein SH3GLB1 117 BAR. anti-apoptosis|filopodium assembly|signal transduction Golgi membrane|mitochondrial outer membrane cytoskeletal adaptor activity|protein homodimerization activity|SH3 domain binding 0 Lung NSC(277;0.209) all cancers(265;0.0136)|Epithelial(280;0.0414) TGCAGGTAATGCCCTTATTAA 0.308 NA 32 189 0 0 0 0 CDC14A 8556 broad.mit.edu 37 1 100964649 100964649 + Missense_Mutation SNP C C T TCGA-BA-5555-01A-01D-1512-08 TCGA-BA-5555-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 65dc1531-713b-41ba-a567-caa12340c0cf 7c55fb6b-c9eb-4d2c-bd12-52d94e821743 g.chr1:100964649C>T uc001dtg.3 + 15 2074 c.1586C>T c.(1585-1587)CCT>CTT p.P529L CDC14A_uc010oui.1_Missense_Mutation_p.P471L|CDC14A_uc001dtf.2_Missense_Mutation_p.P529L|CDC14A_uc009wed.1_Missense_Mutation_p.P236L|CDC14A_uc009wee.2_Missense_Mutation_p.P529L NM_003672 NP_003663 Q9UNH5 CC14A_HUMAN CDC14 homolog A isoform 1 529 cell cycle|cell division|cell proliferation centrosome|nucleus|spindle protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity large_intestine(1) 1 all_epithelial(167;3.71e-06)|all_lung(203;0.00097)|Lung NSC(277;0.001) Epithelial(280;0.0676)|all cancers(265;0.127)|COAD - Colon adenocarcinoma(174;0.201)|Lung(183;0.227)|Colorectal(144;0.241) AGAAATTACCCTGAGCTCAAC 0.547 NA 33 52 0 0 0 0 CTTNBP2NL 55917 broad.mit.edu 37 1 112999521 112999521 + Missense_Mutation SNP A A T TCGA-BA-5555-01A-01D-1512-08 TCGA-BA-5555-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 65dc1531-713b-41ba-a567-caa12340c0cf 7c55fb6b-c9eb-4d2c-bd12-52d94e821743 g.chr1:112999521A>T uc001ebx.2 + 6 1635 c.1407A>T c.(1405-1407)CAA>CAT p.Q469H CTTNBP2NL_uc001ebz.2_RNA NM_018704 NP_061174 Q9P2B4 CT2NL_HUMAN CTTNBP2 N-terminal like 469 actin cytoskeleton protein binding central_nervous_system(2)|ovary(1) 3 all_cancers(81;0.00064)|all_epithelial(167;0.000415)|all_lung(203;0.00045)|Lung NSC(69;0.000705) Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) TTCAGTCCCAAGCAGATCAGG 0.552 NA 32 123 0 0 0 0 CASQ2 845 broad.mit.edu 37 1 116280898 116280899 + Missense_Mutation DNP CG CG GA TCGA-BA-5555-01A-01D-1512-08 TCGA-BA-5555-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 65dc1531-713b-41ba-a567-caa12340c0cf 7c55fb6b-c9eb-4d2c-bd12-52d94e821743 g.chr1:116280898_116280899CG>GA uc001efx.3 - 4 742_743 c.478_479CG>TC c.(478-480)CGC>TCC p.R160S CASQ2_uc010owu.1_Intron NM_001232 NP_001223 O14958 CASQ2_HUMAN cardiac calsequestrin 2 precursor 160 heart development|striated muscle contraction sarcoplasmic reticulum lumen calcium ion binding skin(1) 1 Lung SC(450;0.211) all_cancers(81;1.25e-06)|all_epithelial(167;1.02e-06)|all_lung(203;8.03e-06)|Lung NSC(69;5.01e-05) Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12) GTCTTCAATGCGTTCGAAGGCT 0.446 NA 105 211 0 0 0 0 NBPF10 100132406 broad.mit.edu 37 1 145293541 145293541 + Missense_Mutation SNP C C G TCGA-BA-5555-01A-01D-1512-08 TCGA-BA-5555-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 65dc1531-713b-41ba-a567-caa12340c0cf 7c55fb6b-c9eb-4d2c-bd12-52d94e821743 g.chr1:145293541C>G uc001end.3 + 1 171 c.136C>G c.(136-138)CAA>GAA p.Q46E NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|NBPF10_uc001emp.3_Missense_Mutation_p.Q46E|NOTCH2NL_uc010oyh.1_RNA|NBPF10_uc001emq.1_Missense_Mutation_p.Q46E NM_001039703 NP_001034792 A6NDV3 A6NDV3_HUMAN hypothetical protein LOC100132406 46 0 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) TTTTCTAACTCAACTGGCCGG 0.448 NA 20 541 0 0 0 0 GON4L 54856 broad.mit.edu 37 1 155747430 155747430 + Nonsense_Mutation SNP G G A TCGA-BA-5555-01A-01D-1512-08 TCGA-BA-5555-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 65dc1531-713b-41ba-a567-caa12340c0cf 7c55fb6b-c9eb-4d2c-bd12-52d94e821743 g.chr1:155747430G>A uc001flz.2 - 15 2171 c.2074C>T c.(2074-2076)CAG>TAG p.Q692* GON4L_uc001fly.1_Nonsense_Mutation_p.Q692*|GON4L_uc009wrh.1_Nonsense_Mutation_p.Q692*|GON4L_uc001fma.1_Nonsense_Mutation_p.Q692*|GON4L_uc001fmb.3_5'Flank|GON4L_uc001fmc.2_Nonsense_Mutation_p.Q692*|GON4L_uc001fmd.3_Nonsense_Mutation_p.Q692*|GON4L_uc009wri.2_Nonsense_Mutation_p.Q278*|GON4L_uc009wrj.1_Nonsense_Mutation_p.Q207*|GON4L_uc001fme.2_Nonsense_Mutation_p.Q520* NM_001037533 NP_001032622 Q3T8J9 GON4L_HUMAN gon-4-like isoform a 692 regulation of transcription, DNA-dependent cytoplasm|nucleus DNA binding ovary(3) 3 Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195) ATCTGCTGCTGGAGTCTCTTC 0.353 NA 91 165 0 0 0 0 OR10R2 343406 broad.mit.edu 37 1 158449897 158449897 + Missense_Mutation SNP C C A TCGA-BA-5555-01A-01D-1512-08 TCGA-BA-5555-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 65dc1531-713b-41ba-a567-caa12340c0cf 7c55fb6b-c9eb-4d2c-bd12-52d94e821743 g.chr1:158449897C>A uc010pik.1 + 1 230 c.230C>A c.(229-231)ACA>AAA p.T77K uc001fso.1_RNA NM_001004472 NP_001004472 Q8NGX6 O10R2_HUMAN olfactory receptor, family 10, subfamily R, 77 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity pancreas(2)|skin(1) 3 all_hematologic(112;0.0378) AGCCTCCACACACCAATGTAC 0.433 NA 189 345 1.41e-80 1.9e-80 1 0 OR10Z1 128368 broad.mit.edu 37 1 158576337 158576337 + Missense_Mutation SNP G G C TCGA-BA-5555-01A-01D-1512-08 TCGA-BA-5555-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 65dc1531-713b-41ba-a567-caa12340c0cf 7c55fb6b-c9eb-4d2c-bd12-52d94e821743 g.chr1:158576337G>C uc010pio.1 + 1 109 c.109G>C c.(109-111)GTC>CTC p.V37L NM_001004478 NP_001004478 Q8NGY1 O10Z1_HUMAN olfactory receptor, family 10, subfamily Z, 37 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.V37I(1) pancreas(1)|skin(1) 2 all_hematologic(112;0.0378) TCTGTATCTAGTCACTCTGAC 0.498 NA 123 315 0 0 0 0 FCRLA 84824 broad.mit.edu 37 1 161681106 161681106 + Missense_Mutation SNP G G A rs145034072 TCGA-BA-5555-01A-01D-1512-08 TCGA-BA-5555-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 65dc1531-713b-41ba-a567-caa12340c0cf 7c55fb6b-c9eb-4d2c-bd12-52d94e821743 g.chr1:161681106G>A uc001gbe.2 + 4 652 c.410G>A c.(409-411)CGA>CAA p.R137Q FCRLA_uc001gbd.2_Missense_Mutation_p.R131Q|FCRLA_uc001gbf.2_Intron|FCRLA_uc001gbg.2_Intron|FCRLA_uc009wuo.2_Intron|FCRLA_uc009wup.2_Intron|FCRLA_uc009wuq.2_Intron NM_032738 NP_116127 Q7L513 FCRLA_HUMAN Fc receptor-like and mucin-like 1 114 Ig-like C2-type 1. cell differentiation cytoplasm|extracellular region 0 all_cancers(52;2.55e-15)|all_hematologic(112;0.0359) BRCA - Breast invasive adenocarcinoma(70;0.00301) ACCTTCTACCGAGATGGCTCA 0.592 NA 38 75 0 0 0 0 PAPPA2 60676 broad.mit.edu 37 1 176668369 176668369 + Silent SNP G G T TCGA-BA-5555-01A-01D-1512-08 TCGA-BA-5555-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 65dc1531-713b-41ba-a567-caa12340c0cf 7c55fb6b-c9eb-4d2c-bd12-52d94e821743 g.chr1:176668369G>T uc001gkz.2 + 8 4044 c.2880G>T c.(2878-2880)CCG>CCT p.P960P PAPPA2_uc009www.2_RNA NM_020318 NP_064714 Q9BXP8 PAPP2_HUMAN pappalysin 2 isoform 1 960 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 TCCAACACCCGGTCCAAGCCG 0.572 NA 91 281 1.19e-48 1.57e-48 1 0 FAM5B 57795 broad.mit.edu 37 1 177249786 177249786 + Missense_Mutation SNP C C G TCGA-BA-5555-01A-01D-1512-08 TCGA-BA-5555-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 65dc1531-713b-41ba-a567-caa12340c0cf 7c55fb6b-c9eb-4d2c-bd12-52d94e821743 g.chr1:177249786C>G uc001glf.2 + 8 1786 c.1474C>G c.(1474-1476)CGG>GGG p.R492G FAM5B_uc001glg.2_Missense_Mutation_p.R387G NM_021165 NP_066988 Q9C0B6 FAM5B_HUMAN family with sequence similarity 5, member B 492 extracellular region skin(3)|ovary(2)|upper_aerodigestive_tract(1) 6 GGGGCTGTGCCGGCCAGAGGT 0.622 NA 40 50 0 0 0 0 CFHR2 3080 broad.mit.edu 37 1 196928027 196928027 + Silent SNP A A G TCGA-BA-5555-01A-01D-1512-08 TCGA-BA-5555-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 65dc1531-713b-41ba-a567-caa12340c0cf 7c55fb6b-c9eb-4d2c-bd12-52d94e821743 g.chr1:196928027A>G uc001gtq.1 + 5 707 c.630A>G c.(628-630)TCA>TCG p.S210S CFHR2_uc001gtr.1_Silent_p.S86S NM_005666 NP_005657 P36980 FHR2_HUMAN H factor (complement)-like 3 precursor 210 Sushi 4. extracellular region skin(2)|ovary(1) 3 GTGTAATATCACAAGAAATTA 0.274 NA 41 75 0 0 0 0 JMJD4 65094 broad.mit.edu 37 1 227921284 227921284 + Missense_Mutation SNP G G A TCGA-BA-5555-01A-01D-1512-08 TCGA-BA-5555-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 65dc1531-713b-41ba-a567-caa12340c0cf 7c55fb6b-c9eb-4d2c-bd12-52d94e821743 g.chr1:227921284G>A uc001hrb.2 - 4 791 c.791C>T c.(790-792)GCC>GTC p.A264V SNAP47_uc001hqz.2_Intron|SNAP47_uc001hra.2_Intron|SNAP47_uc001hrd.2_5'Flank|SNAP47_uc001hre.2_5'Flank|SNAP47_uc001hrf.2_5'Flank|LOC100130093_uc001hqx.3_RNA|LOC100130093_uc001hqy.3_RNA|JMJD4_uc001hrc.2_Missense_Mutation_p.A264V NM_023007 NP_075383 Q9H9V9 JMJD4_HUMAN jumonji domain containing 4 isoform 1 264 JmjC. 0 Prostate(94;0.0885) GTCCCGCAGGGCCTCTTCCTG 0.637 NA 4 30 0 0 0 0 TRIM67 440730 broad.mit.edu 37 1 231349664 231349664 + Missense_Mutation SNP G G A TCGA-BA-5555-01A-01D-1512-08 TCGA-BA-5555-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 65dc1531-713b-41ba-a567-caa12340c0cf 7c55fb6b-c9eb-4d2c-bd12-52d94e821743 g.chr1:231349664G>A uc009xfn.1 + 9 2269 c.2227G>A c.(2227-2229)GCC>ACC p.A743T NM_001004342 NP_001004342 Q6ZTA4 TRI67_HUMAN tripartite motif-containing 67 743 B30.2/SPRY. cytoplasm|cytoskeleton zinc ion binding ovary(2)|breast(1)|kidney(1) 4 Breast(184;0.0871) all_cancers(173;0.189)|Prostate(94;0.167) GGGCCCCACAGCCTTCAGCCA 0.652 NA 30 42 0 0 0 0 OR2T1 26696 broad.mit.edu 37 1 248570029 248570029 + Missense_Mutation SNP A A G TCGA-BA-5555-01A-01D-1512-08 TCGA-BA-5555-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 65dc1531-713b-41ba-a567-caa12340c0cf 7c55fb6b-c9eb-4d2c-bd12-52d94e821743 g.chr1:248570029A>G uc010pzm.1 + 1 734 c.734A>G c.(733-735)TAC>TGC p.Y245C NM_030904 NP_112166 O43869 OR2T1_HUMAN olfactory receptor, family 2, subfamily T, 245 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity pancreas(1) 1 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) ACAGCCCTCTACGAGACAGTG 0.493 NA 78 86 0 0 0 0 ZWINT 11130 broad.mit.edu 37 10 58120976 58120976 + Missense_Mutation SNP C C T TCGA-BA-5555-01A-01D-1512-08 TCGA-BA-5555-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 65dc1531-713b-41ba-a567-caa12340c0cf 7c55fb6b-c9eb-4d2c-bd12-52d94e821743 g.chr10:58120976C>T uc001jjx.1 - 1 59 c.22G>A c.(22-24)GCG>ACG p.A8T ZWINT_uc001jjy.1_Missense_Mutation_p.A8T|ZWINT_uc001jka.1_Missense_Mutation_p.A8T|ZWINT_uc009xoy.1_RNA NM_007057 NP_008988 O95229 ZWINT_HUMAN ZW10 interactor isoform a 8 cell division|establishment of localization in cell|mitotic cell cycle checkpoint|mitotic prometaphase|mitotic sister chromatid segregation|phosphatidylinositol-mediated signaling|spindle organization condensed chromosome kinetochore|cytosol|nucleus protein N-terminus binding 0 GCAGCTTCCGCCTCTGTCTCC 0.597 NA 10 13 0 0 0 0 ENTPD1 953 broad.mit.edu 37 10 97583051 97583051 + Missense_Mutation SNP C C A TCGA-BA-5555-01A-01D-1512-08 TCGA-BA-5555-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 65dc1531-713b-41ba-a567-caa12340c0cf 7c55fb6b-c9eb-4d2c-bd12-52d94e821743 g.chr10:97583051C>A uc001klh.3 + 2 398 c.74C>A c.(73-75)TCT>TAT p.S25Y ENTPD1_uc001kle.1_Missense_Mutation_p.S32Y|ENTPD1_uc001kli.3_Missense_Mutation_p.S32Y|uc001klg.1_Intron|ENTPD1_uc010qoj.1_Missense_Mutation_p.S37Y|ENTPD1_uc010qok.1_Intron|ENTPD1_uc010qol.1_Intron|ENTPD1_uc010qom.1_Missense_Mutation_p.S25Y|ENTPD1_uc010qon.1_5'UTR|ENTPD1_uc009xva.2_5'UTR|ENTPD1_uc009xuz.2_RNA NM_001776 NP_001767 P49961 ENTP1_HUMAN ectonucleoside triphosphate diphosphohydrolase 1 25 Helical; (Potential). cell adhesion integral to plasma membrane ATP binding ovary(3) 3 Colorectal(252;0.0821) Epithelial(162;1.31e-07)|all cancers(201;5.33e-06) GGCTTCTCCTCTATCATAGCT 0.393 NA 66 79 1.17e-29 1.5e-29 1 0 OR56A1 120796 broad.mit.edu 37 11 6048184 6048184 + Missense_Mutation SNP G G T TCGA-BA-5555-01A-01D-1512-08 TCGA-BA-5555-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 65dc1531-713b-41ba-a567-caa12340c0cf 7c55fb6b-c9eb-4d2c-bd12-52d94e821743 g.chr11:6048184G>T uc010qzw.1 - 1 751 c.751C>A c.(751-753)CAC>AAC p.H251N NM_001001917 NP_001001917 Q8NGH5 O56A1_HUMAN olfactory receptor, family 56, subfamily A, 251 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|breast(1) 3 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) AGGATGAAGTGGGAGCCACAT 0.493 NA 34 35 3.04e-20 3.77e-20 1 0 ABCC8 6833 broad.mit.edu 37 11 17434265 17434265 + Missense_Mutation SNP T T A TCGA-BA-5555-01A-01D-1512-08 TCGA-BA-5555-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 65dc1531-713b-41ba-a567-caa12340c0cf 7c55fb6b-c9eb-4d2c-bd12-52d94e821743 g.chr11:17434265T>A uc001mnc.2 - 21 2630 c.2504A>T c.(2503-2505)CAG>CTG p.Q835L NM_000352 NP_000343 Q09428 ABCC8_HUMAN ATP-binding cassette, sub-family C, member 8 835 ABC transporter 1.|Cytoplasmic (By similarity). carbohydrate metabolic process|energy reserve metabolic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity ovary(1) 1 READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1) Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912) ACTGATTCGCTGGCGTTGACC 0.537 NA 6 12 0 0 0 0 LRRC4C 57689 broad.mit.edu 37 11 40137138 40137138 + Missense_Mutation SNP C C A TCGA-BA-5555-01A-01D-1512-08 TCGA-BA-5555-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 65dc1531-713b-41ba-a567-caa12340c0cf 7c55fb6b-c9eb-4d2c-bd12-52d94e821743 g.chr11:40137138C>A uc001mxa.1 - 2 2669 c.705G>T c.(703-705)AGG>AGT p.R235S LRRC4C_uc001mxc.1_Missense_Mutation_p.R231S|LRRC4C_uc001mxd.1_Missense_Mutation_p.R231S|LRRC4C_uc001mxb.1_Missense_Mutation_p.R231S NM_020929 NP_065980 Q9HCJ2 LRC4C_HUMAN netrin-G1 ligand precursor 235 LRR 7. regulation of axonogenesis integral to membrane protein binding ovary(4)|skin(3)|central_nervous_system(1) 8 all_lung(304;0.0575)|Lung NSC(402;0.138) AAGAGCCAGGCCTGATGGCAG 0.463 NA 29 151 2.66e-16 3.22e-16 1 0 OR4C3 256144 broad.mit.edu 37 11 48346805 48346805 + Missense_Mutation SNP A A G TCGA-BA-5555-01A-01D-1512-08 TCGA-BA-5555-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 65dc1531-713b-41ba-a567-caa12340c0cf 7c55fb6b-c9eb-4d2c-bd12-52d94e821743 g.chr11:48346805A>G uc010rhv.1 + 1 313 c.313A>G c.(313-315)AAA>GAA p.K105E NM_001004702 NP_001004702 Q8NH37 OR4C3_HUMAN olfactory receptor, family 4, subfamily C, 78 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 TATGGCTCCTAAACTCATTGC 0.463 NA 15 313 0 0 0 0 OR5D14 219436 broad.mit.edu 37 11 55563331 55563331 + Missense_Mutation SNP G G T TCGA-BA-5555-01A-01D-1512-08 TCGA-BA-5555-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 65dc1531-713b-41ba-a567-caa12340c0cf 7c55fb6b-c9eb-4d2c-bd12-52d94e821743 g.chr11:55563331G>T uc010rim.1 + 1 300 c.300G>T c.(298-300)ATG>ATT p.M100I NM_001004735 NP_001004735 Q8NGL3 OR5DE_HUMAN olfactory receptor, family 5, subfamily D, 100 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|central_nervous_system(1) 3 all_epithelial(135;0.196) TTAGCTGCATGATGCAGTACT 0.458 NA 43 110 1.03e-14 1.24e-14 1 0 GIF 2694 broad.mit.edu 37 11 59603312 59603312 + Missense_Mutation SNP C C G TCGA-BA-5555-01A-01D-1512-08 TCGA-BA-5555-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 65dc1531-713b-41ba-a567-caa12340c0cf 7c55fb6b-c9eb-4d2c-bd12-52d94e821743 g.chr11:59603312C>G uc001noi.2 - 7 1090 c.1042G>C c.(1042-1044)GAG>CAG p.E348Q NM_005142 NP_005133 P27352 IF_HUMAN gastric intrinsic factor (vitamin B synthesis) 348 cobalamin metabolic process|cobalamin transport|cobalt ion transport apical plasma membrane|endosome|extracellular space|microvillus cobalamin binding ovary(1)|liver(1) 2 TGTGCTTCCTCTAGGACAACA 0.413 NA 106 292 0 0 0 0 AHNAK 79026 broad.mit.edu 37 11 62294809 62294809 + Silent SNP T T C TCGA-BA-5555-01A-01D-1512-08 TCGA-BA-5555-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 65dc1531-713b-41ba-a567-caa12340c0cf 7c55fb6b-c9eb-4d2c-bd12-52d94e821743 g.chr11:62294809T>C uc001ntl.2 - 5 7380 c.7080A>G c.(7078-7080)GTA>GTG p.V2360V AHNAK_uc001ntk.1_Intron NM_001620 NP_001611 Q09666 AHNK_HUMAN AHNAK nucleoprotein isoform 1 2360 nervous system development nucleus protein binding ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1) 19 Melanoma(852;0.155) CTTCCACAGCTACTTCTGGCA 0.453 NA 112 384 0 0 0 0 KRTAP5-11 440051 broad.mit.edu 37 11 71293827 71293827 + Silent SNP G G A TCGA-BA-5555-01A-01D-1512-08 TCGA-BA-5555-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 65dc1531-713b-41ba-a567-caa12340c0cf 7c55fb6b-c9eb-4d2c-bd12-52d94e821743 g.chr11:71293827G>A uc001oqu.2 - 1 95 c.57C>T c.(55-57)TCC>TCT p.S19S NM_001005405 NP_001005405 Q6L8G4 KR511_HUMAN keratin associated protein 5-11 19 keratin filament 0 CCCCACTGCCGGAGCCACAGC 0.632 NA 22 45 0 0 0 0 ST14 6768 broad.mit.edu 37 11 130058529 130058529 + Silent SNP C C T TCGA-BA-5555-01A-01D-1512-08 TCGA-BA-5555-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 65dc1531-713b-41ba-a567-caa12340c0cf 7c55fb6b-c9eb-4d2c-bd12-52d94e821743 g.chr11:130058529C>T uc001qfw.2 + 3 539 c.346C>T c.(346-348)CTG>TTG p.L116L ST14_uc010sca.1_5'Flank NM_021978 NP_068813 Q9Y5Y6 ST14_HUMAN matriptase 116 Extracellular (Potential). proteolysis integral to plasma membrane serine-type endopeptidase activity ovary(2)|skin(2)|central_nervous_system(1) 5 all_hematologic(175;0.0429) Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228) Urokinase(DB00013) GTTTGTAAGCCTGGCCAGCAA 0.572 NA 54 57 0 0 0 0 GLB1L3 112937 broad.mit.edu 37 11 134153634 134153634 + Missense_Mutation SNP G G C TCGA-BA-5555-01A-01D-1512-08 TCGA-BA-5555-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 65dc1531-713b-41ba-a567-caa12340c0cf 7c55fb6b-c9eb-4d2c-bd12-52d94e821743 g.chr11:134153634G>C uc009zdf.2 + 6 891 c.531G>C c.(529-531)TGG>TGC p.W177C GLB1L3_uc010scs.1_Missense_Mutation_p.W177C|GLB1L3_uc010sct.1_Missense_Mutation_p.W29C NM_001080407 NP_001073876 Q8NCI6 GLBL3_HUMAN galactosidase, beta 1 like 3 177 carbohydrate metabolic process cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds pancreas(1) 1 all_hematologic(175;0.127) all_cancers(12;5.52e-23)|all_epithelial(12;2.15e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|all_neural(223;0.0182)|Medulloblastoma(222;0.0208)|Esophageal squamous(93;0.0559) Epithelial(10;1.3e-11)|all cancers(11;2.07e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000873)|Lung(977;0.222) CCCCCAGCTGGCTCCTGCAAG 0.592 NA 7 8 0 0 0 0 KLRG1 10219 broad.mit.edu 37 12 9162052 9162052 + Nonsense_Mutation SNP C C A rs145154967 TCGA-BA-5555-01A-01D-1512-08 TCGA-BA-5555-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 65dc1531-713b-41ba-a567-caa12340c0cf 7c55fb6b-c9eb-4d2c-bd12-52d94e821743 g.chr12:9162052C>A uc001qvh.2 + 5 500 c.489C>A c.(487-489)TGC>TGA p.C163* KLRG1_uc001qvg.2_Nonsense_Mutation_p.C163* NM_005810 NP_005801 Q96E93 KLRG1_HUMAN killer cell lectin-like receptor subfamily G, 163 C-type lectin.|Extracellular (Potential). cell surface receptor linked signaling pathway|cellular defense response|inflammatory response|regulation of immune response integral to membrane receptor activity|sugar binding central_nervous_system(1) 1 TGCAGACATGCGGTGCCATCA 0.433 NA 38 92 2.04e-09 2.34e-09 1 0 LDHB 3945 broad.mit.edu 37 12 21791345 21791345 + Missense_Mutation SNP T T C TCGA-BA-5555-01A-01D-1512-08 TCGA-BA-5555-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 65dc1531-713b-41ba-a567-caa12340c0cf 7c55fb6b-c9eb-4d2c-bd12-52d94e821743 g.chr12:21791345T>C uc001rfc.2 - 5 673 c.655A>G c.(655-657)ATG>GTG p.M219V LDHB_uc001rfd.2_Missense_Mutation_p.M219V|LDHB_uc001rfe.2_Missense_Mutation_p.M219V NM_002300 NP_002291 P07195 LDHB_HUMAN L-lactate dehydrogenase B 219 glycolysis|pyruvate metabolic process cytosol L-lactate dehydrogenase activity breast(2)|ovary(1) 3 NADH(DB00157) TCAGTTCCCATTTCTGGATTC 0.358 NA 57 122 0 0 0 0 KIAA0528 9847 broad.mit.edu 37 12 22637814 22637814 + Missense_Mutation SNP T T A TCGA-BA-5555-01A-01D-1512-08 TCGA-BA-5555-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 65dc1531-713b-41ba-a567-caa12340c0cf 7c55fb6b-c9eb-4d2c-bd12-52d94e821743 g.chr12:22637814T>A uc001rfq.2 - 13 1595 c.1367A>T c.(1366-1368)GAA>GTA p.E456V KIAA0528_uc010sir.1_Missense_Mutation_p.E271V|KIAA0528_uc010sis.1_Missense_Mutation_p.E456V|KIAA0528_uc010sit.1_Missense_Mutation_p.E458V|KIAA0528_uc010siu.1_Missense_Mutation_p.E456V|KIAA0528_uc001rfr.2_Missense_Mutation_p.E447V|KIAA0528_uc009ziy.1_Missense_Mutation_p.E458V NM_014802 NP_055617 Q86YS7 K0528_HUMAN hypothetical protein LOC9847 456 protein binding ovary(1)|large_intestine(1)|breast(1)|central_nervous_system(1) 4 AGGCAAATTTTCTTCAAGCCt 0.264 NA 34 32 0 0 0 0 AMIGO2 347902 broad.mit.edu 37 12 47472679 47472679 + Missense_Mutation SNP C C G TCGA-BA-5555-01A-01D-1512-08 TCGA-BA-5555-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 65dc1531-713b-41ba-a567-caa12340c0cf 7c55fb6b-c9eb-4d2c-bd12-52d94e821743 g.chr12:47472679C>G uc001rpm.2 - 3 762 c.107G>C c.(106-108)GGT>GCT p.G36A FAM113B_uc001rpn.2_5'Flank|AMIGO2_uc001rpk.2_Missense_Mutation_p.G36A|AMIGO2_uc001rpl.2_Missense_Mutation_p.G36A NM_001143668 NP_001137140 Q86SJ2 AMGO2_HUMAN adhesion molecule with Ig-like domain 2 36 heterophilic cell-cell adhesion|homophilic cell adhesion integral to membrane|nucleus|plasma membrane ovary(1)|skin(1) 2 Renal(347;0.138)|Lung SC(27;0.192) CCCAGAGGCACCAGGGCCCAC 0.587 NA 47 104 0 0 0 0 PTPRR 5801 broad.mit.edu 37 12 71158499 71158499 + Silent SNP T T G TCGA-BA-5555-01A-01D-1512-08 TCGA-BA-5555-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 65dc1531-713b-41ba-a567-caa12340c0cf 7c55fb6b-c9eb-4d2c-bd12-52d94e821743 g.chr12:71158499T>G uc001swi.1 - 3 833 c.417A>C c.(415-417)GGA>GGC p.G139G PTPRR_uc010stq.1_Silent_p.G27G NM_002849 NP_002840 Q15256 PTPRR_HUMAN protein tyrosine phosphatase, receptor type, R 139 Extracellular (Potential). in utero embryonic development cell surface|Golgi apparatus|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity skin(2)|ovary(1) 3 GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132) COAD - Colon adenocarcinoma(1;0.136) CTGCAGCCACTCCTTGGCGGA 0.408 NA 63 91 0 0 0 0 ACSS3 79611 broad.mit.edu 37 12 81472119 81472119 + Nonsense_Mutation SNP G G T rs144134515 TCGA-BA-5555-01A-01D-1512-08 TCGA-BA-5555-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 65dc1531-713b-41ba-a567-caa12340c0cf 7c55fb6b-c9eb-4d2c-bd12-52d94e821743 g.chr12:81472119G>T uc001szl.1 + 1 311 c.220G>T c.(220-222)GAG>TAG p.E74* ACSS3_uc001szm.1_Nonsense_Mutation_p.E74* NM_024560 NP_078836 Q9H6R3 ACSS3_HUMAN acyl-CoA synthetase short-chain family member 3 74 mitochondrion acetate-CoA ligase activity|ATP binding ovary(1)|lung(1)|central_nervous_system(1)|skin(1) 4 GACCGACCCCGAGAGGTTCTG 0.657 NA 12 64 9.05e-18 1.11e-17 1 0 VEZT 55591 broad.mit.edu 37 12 95660258 95660258 + Nonsense_Mutation SNP T T A TCGA-BA-5555-01A-01D-1512-08 TCGA-BA-5555-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 65dc1531-713b-41ba-a567-caa12340c0cf 7c55fb6b-c9eb-4d2c-bd12-52d94e821743 g.chr12:95660258T>A uc001tdz.2 + 5 665 c.560T>A c.(559-561)TTA>TAA p.L187* VEZT_uc009zsy.1_Nonsense_Mutation_p.L29*|VEZT_uc001tdr.2_Nonsense_Mutation_p.L29*|VEZT_uc001tds.2_Nonsense_Mutation_p.L139*|VEZT_uc001tdt.2_Nonsense_Mutation_p.L139*|VEZT_uc009zsz.1_Nonsense_Mutation_p.L187*|VEZT_uc001tdv.2_Nonsense_Mutation_p.L156*|VEZT_uc001tdw.1_Nonsense_Mutation_p.L139*|VEZT_uc009zta.1_Nonsense_Mutation_p.L139* NM_017599 NP_060069 Q9HBM0 VEZA_HUMAN vezatin, adherens junctions transmembrane 187 acrosomal vesicle|adherens junction|integral to membrane|nucleus ovary(1) 1 GCTTTGAGATTATGGAGGACA 0.428 NA 132 210 0 0 0 0 RFX4 5992 broad.mit.edu 37 12 107126787 107126787 + Silent SNP C C G TCGA-BA-5555-01A-01D-1512-08 TCGA-BA-5555-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 65dc1531-713b-41ba-a567-caa12340c0cf 7c55fb6b-c9eb-4d2c-bd12-52d94e821743 g.chr12:107126787C>G uc001tlr.2 + 15 1623 c.1557C>G c.(1555-1557)GCC>GCG p.A519A RFX4_uc001tls.2_Silent_p.A528A|RFX4_uc001tlt.2_Silent_p.A528A|RFX4_uc001tlv.2_Silent_p.A425A NM_213594 NP_998759 Q33E94 RFX4_HUMAN regulatory factor X4 isoform c 519 transcription, DNA-dependent nucleus DNA binding upper_aerodigestive_tract(1) 1 CAAAATCTGCCACATCTGTGG 0.507 NA 74 122 0 0 0 0 KDM2B 84678 broad.mit.edu 37 12 121878774 121878774 + Missense_Mutation SNP C C T TCGA-BA-5555-01A-01D-1512-08 TCGA-BA-5555-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 65dc1531-713b-41ba-a567-caa12340c0cf 7c55fb6b-c9eb-4d2c-bd12-52d94e821743 g.chr12:121878774C>T uc001uat.2 - 21 3559 c.3455G>A c.(3454-3456)CGG>CAG p.R1152Q KDM2B_uc001uaq.2_Missense_Mutation_p.R592Q|KDM2B_uc010szy.1_Missense_Mutation_p.R592Q|KDM2B_uc001uar.2_Missense_Mutation_p.R743Q|KDM2B_uc001uas.2_Missense_Mutation_p.R1083Q|KDM2B_uc001uau.2_Intron|KDM2B_uc001uao.2_Missense_Mutation_p.R400Q|KDM2B_uc010szx.1_Missense_Mutation_p.R400Q|KDM2B_uc001uap.2_RNA NM_032590 NP_115979 Q8NHM5 KDM2B_HUMAN F-box and leucine-rich repeat protein 10 isoform 1152 LRR 2. embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent nucleolus DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding ovary(1)|skin(1) 2 CACCAAGTCCCGGAGCCCTGG 0.647 NA 14 66 0 0 0 0 PIWIL1 9271 broad.mit.edu 37 12 130851726 130851726 + Missense_Mutation SNP T T G TCGA-BA-5555-01A-01D-1512-08 TCGA-BA-5555-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 65dc1531-713b-41ba-a567-caa12340c0cf 7c55fb6b-c9eb-4d2c-bd12-52d94e821743 g.chr12:130851726T>G uc001uik.2 + 19 2334 c.2244T>G c.(2242-2244)TTT>TTG p.F748L PIWIL1_uc001uij.1_Missense_Mutation_p.F748L NM_004764 NP_004755 Q96J94 PIWL1_HUMAN piwi-like 1 748 Piwi. gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development chromatoid body|P granule mRNA binding|piRNA binding|protein binding ovary(2) 2 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05) ACACCAGATTTTTTGCTCAGT 0.408 NA 45 198 0 0 0 0 PCDH9 5101 broad.mit.edu 37 13 67799767 67799767 + Missense_Mutation SNP C C A TCGA-BA-5555-01A-01D-1512-08 TCGA-BA-5555-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 65dc1531-713b-41ba-a567-caa12340c0cf 7c55fb6b-c9eb-4d2c-bd12-52d94e821743 g.chr13:67799767C>A uc001vik.2 - 2 3498 c.2806G>T c.(2806-2808)GCC>TCC p.A936S PCDH9_uc001vil.2_Missense_Mutation_p.A936S|PCDH9_uc010thl.1_Missense_Mutation_p.A936S|PCDH9_uc001vin.3_Missense_Mutation_p.A936S NM_203487 NP_982354 Q9HC56 PCDH9_HUMAN protocadherin 9 isoform 1 precursor 936 Cytoplasmic (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(4)|pancreas(1)|skin(1) 6 Hepatocellular(98;0.0906)|Breast(118;0.107) GBM - Glioblastoma multiforme(99;0.00819) TAGTGCTTGGCCAGGTCAGGA 0.502 NA 67 88 5.26e-25 6.58e-25 1 0 SLITRK6 84189 broad.mit.edu 37 13 86369608 86369608 + Missense_Mutation SNP G G A TCGA-BA-5555-01A-01D-1512-08 TCGA-BA-5555-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 65dc1531-713b-41ba-a567-caa12340c0cf 7c55fb6b-c9eb-4d2c-bd12-52d94e821743 g.chr13:86369608G>A uc001vll.1 - 2 1495 c.1036C>T c.(1036-1038)CAT>TAT p.H346Y SLITRK6_uc010afe.1_Missense_Mutation_p.H111Y NM_032229 NP_115605 Q9H5Y7 SLIK6_HUMAN slit and trk like 6 precursor 346 Extracellular (Potential).|LRRNT 2. integral to membrane large_intestine(1)|ovary(1)|central_nervous_system(1) 3 all_neural(89;0.117)|Medulloblastoma(90;0.163) GBM - Glioblastoma multiforme(99;0.0456) TCCTGACAATGTATTAGAAGT 0.408 NA 70 97 0 0 0 0 OR4M1 441670 broad.mit.edu 37 14 20248817 20248817 + Missense_Mutation SNP G G C TCGA-BA-5555-01A-01D-1512-08 TCGA-BA-5555-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 65dc1531-713b-41ba-a567-caa12340c0cf 7c55fb6b-c9eb-4d2c-bd12-52d94e821743 g.chr14:20248817G>C uc010tku.1 + 1 336 c.336G>C c.(334-336)ATG>ATC p.M112I NM_001005500 NP_001005500 Q8NGD0 OR4M1_HUMAN olfactory receptor, family 4, subfamily M, 112 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) CTTCGGAGATGTTCTTGCTCA 0.478 NA 153 598 0 0 0 0 TEP1 7011 broad.mit.edu 37 14 20849089 20849089 + Splice_Site SNP C C T TCGA-BA-5555-01A-01D-1512-08 TCGA-BA-5555-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 65dc1531-713b-41ba-a567-caa12340c0cf 7c55fb6b-c9eb-4d2c-bd12-52d94e821743 g.chr14:20849089C>T uc001vxe.2 - 33 4802 c.4762_splice c.e33+1 p.A1588_splice TEP1_uc010ahk.2_Splice_Site_p.A931_splice|TEP1_uc010tlf.1_Splice_Site|TEP1_uc010tlg.1_Splice_Site_p.A1480_splice|TEP1_uc010tlh.1_Splice_Site NM_007110 NP_009041 Q99973 TEP1_HUMAN telomerase-associated protein 1 telomere maintenance via recombination chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex ATP binding|RNA binding ovary(5) 5 all_cancers(95;0.00123) all_lung(585;0.235) Epithelial(56;7.42e-08)|all cancers(55;6.46e-07) GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233) ACTCATCTCACCATAGAGGGC 0.577 NA 23 70 0 0 0 0 GOLGA5 9950 broad.mit.edu 37 14 93277936 93277936 + Missense_Mutation SNP G G A TCGA-BA-5555-01A-01D-1512-08 TCGA-BA-5555-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 65dc1531-713b-41ba-a567-caa12340c0cf 7c55fb6b-c9eb-4d2c-bd12-52d94e821743 g.chr14:93277936G>A uc001yaz.1 + 6 1339 c.1157G>A c.(1156-1158)CGT>CAT p.R386H NM_005113 NP_005104 Q8TBA6 GOGA5_HUMAN Golgi autoantigen, golgin subfamily a, 5 386 Cytoplasmic (Potential).|Potential. Golgi organization cis-Golgi network|integral to membrane ATP binding|protein homodimerization activity|protein tyrosine kinase activity|Rab GTPase binding ovary(2)|lung(1) 3 all_cancers(154;0.0934) COAD - Colon adenocarcinoma(157;0.222) GAAATGGAACGTCAGAATTTA 0.358 NA T RET papillary thyroid 42 120 0 0 0 0 RYR3 6263 broad.mit.edu 37 15 33936553 33936553 + Missense_Mutation SNP C C A TCGA-BA-5555-01A-01D-1512-08 TCGA-BA-5555-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 65dc1531-713b-41ba-a567-caa12340c0cf 7c55fb6b-c9eb-4d2c-bd12-52d94e821743 g.chr15:33936553C>A uc001zhi.2 + 28 3668 c.3598C>A c.(3598-3600)CGC>AGC p.R1200S RYR3_uc010bar.2_Missense_Mutation_p.R1200S NM_001036 NP_001027 Q15413 RYR3_HUMAN ryanodine receptor 3 1200 B30.2/SPRY 2.|Cytoplasmic (By similarity).|4 X approximate repeats. cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity ovary(5)|central_nervous_system(4)|lung(1) 10 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) TCAGATCGGCCGCATGAATCT 0.517 NA 13 9 1.05e-09 1.21e-09 1 0 ACTC1 70 broad.mit.edu 37 15 35086967 35086967 + Missense_Mutation SNP C C A TCGA-BA-5555-01A-01D-1512-08 TCGA-BA-5555-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 65dc1531-713b-41ba-a567-caa12340c0cf 7c55fb6b-c9eb-4d2c-bd12-52d94e821743 g.chr15:35086967C>A uc001ziu.1 - 2 286 c.43G>T c.(43-45)GGC>TGC p.G15C uc001zit.1_Intron NM_005159 NP_005150 P68032 ACTC_HUMAN cardiac muscle alpha actin 1 proprotein 15 apoptosis|cardiac muscle tissue morphogenesis|cardiac myofibril assembly|muscle filament sliding|skeletal muscle thin filament assembly actomyosin, actin part|cytosol|I band ATP binding|ATPase activity|myosin binding upper_aerodigestive_tract(1)|ovary(1) 2 all_lung(180;2.3e-08) all cancers(64;5.83e-19)|GBM - Glioblastoma multiforme(113;1.98e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0244) AGCCCAGAGCCGTTGTCGCAC 0.677 NA 61 59 2.79e-41 3.65e-41 1 0 ITPKA 3706 broad.mit.edu 37 15 41795316 41795316 + Silent SNP G G A TCGA-BA-5555-01A-01D-1512-08 TCGA-BA-5555-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 65dc1531-713b-41ba-a567-caa12340c0cf 7c55fb6b-c9eb-4d2c-bd12-52d94e821743 g.chr15:41795316G>A uc001znz.2 + 7 1349 c.1338G>A c.(1336-1338)CTG>CTA p.L446L NM_002220 NP_002211 P23677 IP3KA_HUMAN 1D-myo-inositol-trisphosphate 3-kinase A 446 signal transduction ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity 0 all_cancers(109;1.89e-19)|all_epithelial(112;2.28e-16)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.172) OV - Ovarian serous cystadenocarcinoma(18;7.63e-17)|GBM - Glioblastoma multiforme(113;1.34e-06)|Colorectal(105;0.0148)|BRCA - Breast invasive adenocarcinoma(123;0.113) GCTATTTGCTGGGGCTGGACA 0.662 NA 19 16 0 0 0 0 ZFP106 64397 broad.mit.edu 37 15 42749328 42749328 + Missense_Mutation SNP C C A TCGA-BA-5555-01A-01D-1512-08 TCGA-BA-5555-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 65dc1531-713b-41ba-a567-caa12340c0cf 7c55fb6b-c9eb-4d2c-bd12-52d94e821743 g.chr15:42749328C>A uc001zpw.2 - 1 411 c.76G>T c.(76-78)GGG>TGG p.G26W ZFP106_uc001zpv.2_Intron|ZFP106_uc001zpx.2_Intron|ZFP106_uc010udh.1_Intron|ZFP106_uc001zpy.1_Missense_Mutation_p.G49W NM_022473 NP_071918 Q9H2Y7 ZF106_HUMAN zinc finger protein 106 homolog 26 C2H2-type 1; atypical. nucleolus zinc ion binding central_nervous_system(2)|ovary(1) 3 all_cancers(109;1.63e-12)|all_epithelial(112;3.97e-11)|Lung NSC(122;2.04e-07)|all_lung(180;8.31e-07)|Melanoma(134;0.091) GBM - Glioblastoma multiforme(94;8.6e-07) TCTGTGACCCCGCACACTCGG 0.438 NA 19 52 4.97e-08 5.61e-08 1 0 THSD4 79875 broad.mit.edu 37 15 72023481 72023481 + Missense_Mutation SNP C C A TCGA-BA-5555-01A-01D-1512-08 TCGA-BA-5555-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 65dc1531-713b-41ba-a567-caa12340c0cf 7c55fb6b-c9eb-4d2c-bd12-52d94e821743 g.chr15:72023481C>A uc002atb.1 + 9 1634 c.1555C>A c.(1555-1557)CCA>ACA p.P519T THSD4_uc002atd.1_3'UTR|THSD4_uc010ukg.1_Missense_Mutation_p.P159T|THSD4_uc002ate.2_Missense_Mutation_p.P159T NM_024817 NP_079093 Q6ZMP0 THSD4_HUMAN thrombospondin, type I, domain containing 4 519 proteinaceous extracellular matrix metalloendopeptidase activity ovary(2) 2 GCAGCCAAACCCAGGCGTGCA 0.552 NA OREG0023247 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 11 67 4.37e-10 5.03e-10 1 0 AKAP13 11214 broad.mit.edu 37 15 86260576 86260576 + Missense_Mutation SNP G G A TCGA-BA-5555-01A-01D-1512-08 TCGA-BA-5555-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 65dc1531-713b-41ba-a567-caa12340c0cf 7c55fb6b-c9eb-4d2c-bd12-52d94e821743 g.chr15:86260576G>A uc002blv.1 + 21 5961 c.5791G>A c.(5791-5793)GAC>AAC p.D1931N AKAP13_uc002blu.1_Missense_Mutation_p.D1935N|AKAP13_uc010bnf.1_Missense_Mutation_p.D552N|AKAP13_uc002blw.1_Missense_Mutation_p.D398N|AKAP13_uc002blx.1_Missense_Mutation_p.D176N NM_007200 NP_009131 Q12802 AKP13_HUMAN A-kinase anchor protein 13 isoform 2 1931 Interaction with ESR1. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|membrane|membrane fraction|nucleus cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity central_nervous_system(3)|kidney(2)|urinary_tract(1)|liver(1)|skin(1)|ovary(1) 9 TCATTCAACAGACTCACTAAA 0.378 NA 26 39 0 0 0 0 ZNF263 10127 broad.mit.edu 37 16 3340026 3340026 + Missense_Mutation SNP G G A TCGA-BA-5555-01A-01D-1512-08 TCGA-BA-5555-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 65dc1531-713b-41ba-a567-caa12340c0cf 7c55fb6b-c9eb-4d2c-bd12-52d94e821743 g.chr16:3340026G>A uc002cuq.2 + 6 1852 c.1520G>A c.(1519-1521)CGG>CAG p.R507Q ZNF263_uc010uww.1_Missense_Mutation_p.R155Q|ZNF263_uc002cur.2_Missense_Mutation_p.R155Q NM_005741 NP_005732 O14978 ZN263_HUMAN zinc finger protein 263 507 C2H2-type 4. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding skin(3)|ovary(1) 4 AACCTCCTTCGGCACCAGAGA 0.522 NA 20 58 0 0 0 0 PDZD9 255762 broad.mit.edu 37 16 21995735 21995735 + Silent SNP C C A TCGA-BA-5555-01A-01D-1512-08 TCGA-BA-5555-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 65dc1531-713b-41ba-a567-caa12340c0cf 7c55fb6b-c9eb-4d2c-bd12-52d94e821743 g.chr16:21995735C>A uc002dka.1 - 5 779 c.462G>T c.(460-462)GTG>GTT p.V154V NM_173806 NP_776167 Q8IXQ8 PDZD9_HUMAN hypothetical protein LOC255762 216 pancreas(1) 1 AAGGGGCCCTCACTTCTTTCT 0.433 NA 164 349 6.73e-69 9.01e-69 1 0 VWA3A 146177 broad.mit.edu 37 16 22130326 22130326 + Missense_Mutation SNP C C A TCGA-BA-5555-01A-01D-1512-08 TCGA-BA-5555-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 65dc1531-713b-41ba-a567-caa12340c0cf 7c55fb6b-c9eb-4d2c-bd12-52d94e821743 g.chr16:22130326C>A uc010vbq.1 + 12 1190 c.1094C>A c.(1093-1095)GCG>GAG p.A365E VWA3A_uc010bxd.2_5'Flank|VWA3A_uc010bxc.2_Missense_Mutation_p.A352E NM_173615 NP_775886 A6NCI4 VWA3A_HUMAN von Willebrand factor A domain containing 3A 365 extracellular region skin(1) 1 GBM - Glioblastoma multiforme(48;0.0439) CCCTGTGAGGCGCTCACCTGC 0.612 NA 9 25 2.18e-05 2.36e-05 1 0 CDH5 1003 broad.mit.edu 37 16 66426206 66426206 + Missense_Mutation SNP C C A TCGA-BA-5555-01A-01D-1512-08 TCGA-BA-5555-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 65dc1531-713b-41ba-a567-caa12340c0cf 7c55fb6b-c9eb-4d2c-bd12-52d94e821743 g.chr16:66426206C>A uc002eom.3 + 7 1293 c.1137C>A c.(1135-1137)TTC>TTA p.F379L CDH5_uc002eon.1_Missense_Mutation_p.F379L NM_001795 NP_001786 P33151 CADH5_HUMAN cadherin 5, type 2 preproprotein 379 Cadherin 4.|Extracellular (Potential). adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity integral to membrane|membrane fraction beta-catenin binding|calcium ion binding|ion channel binding|receptor binding ovary(2)|lung(2)|central_nervous_system(1)|skin(1) 6 Ovarian(137;0.0955) OV - Ovarian serous cystadenocarcinoma(108;0.107) TCTACCACTTCCAGCTGAAGG 0.552 NA 67 120 1.27e-28 1.61e-28 1 0 HYDIN 54768 broad.mit.edu 37 16 70852359 70852359 + Silent SNP C C T TCGA-BA-5555-01A-01D-1512-08 TCGA-BA-5555-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 65dc1531-713b-41ba-a567-caa12340c0cf 7c55fb6b-c9eb-4d2c-bd12-52d94e821743 g.chr16:70852359C>T uc002ezr.2 - 84 14669 c.14541G>A c.(14539-14541)GCG>GCA p.A4847A HYDIN_uc010cfy.2_RNA NM_032821 NP_116210 Q4G0P3 HYDIN_HUMAN hydrocephalus inducing isoform a 4848 ovary(1)|skin(1) 2 Ovarian(137;0.0654) TGGAGGCTGACGCAACTTGCC 0.547 NA 12 15 0 0 0 0 SHPK 23729 broad.mit.edu 37 17 3526640 3526640 + Missense_Mutation SNP C C A rs111475678 TCGA-BA-5555-01A-01D-1512-08 TCGA-BA-5555-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 65dc1531-713b-41ba-a567-caa12340c0cf 7c55fb6b-c9eb-4d2c-bd12-52d94e821743 g.chr17:3526640C>A uc002fvz.1 - 4 743 c.640G>T c.(640-642)GTA>TTA p.V214L NM_013276 NP_037408 Q9UHJ6 SHPK_HUMAN carbohydrate kinase-like 214 carbohydrate metabolic process cytoplasm ATP binding|sedoheptulokinase activity ovary(1) 1 COAD - Colon adenocarcinoma(5;0.0828) CACGTCTCTACGTTCCAGCTT 0.557 NA 129 73 4.27e-56 5.68e-56 1 0 TP53 7157 broad.mit.edu 37 17 7577574 7577574 + Missense_Mutation SNP T T C TCGA-BA-5555-01A-01D-1512-08 TCGA-BA-5555-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 65dc1531-713b-41ba-a567-caa12340c0cf 7c55fb6b-c9eb-4d2c-bd12-52d94e821743 g.chr17:7577574T>C uc002gim.2 - 7 901 c.707A>G c.(706-708)TAC>TGC p.Y236C TP53_uc002gig.1_Missense_Mutation_p.Y236C|TP53_uc002gih.2_Missense_Mutation_p.Y236C|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.Y104C|TP53_uc010cng.1_Missense_Mutation_p.Y104C|TP53_uc002gii.1_Missense_Mutation_p.Y104C|TP53_uc010cnh.1_Missense_Mutation_p.Y236C|TP53_uc010cni.1_Missense_Mutation_p.Y236C|TP53_uc002gij.2_Missense_Mutation_p.Y236C|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.Y143C|TP53_uc002gio.2_Missense_Mutation_p.Y104C NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 236 Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). Y -> S (in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.Y236C(46)|p.Y236N(12)|p.Y236*(9)|p.Y236H(9)|p.0?(7)|p.Y236D(6)|p.Y236del(4)|p.Y236S(3)|p.Y236Y(2)|p.Y236fs*4(2)|p.Y236_M237delYM(1)|p.I232_Y236delIHYNY(1)|p.Y236fs*5(1)|p.H233fs*6(1)|p.Y236_M237insXX(1)|p.Y236_M243delYMCNSSCM(1)|p.V225fs*23(1)|p.Y236_M237>*L(1)|p.H233_C242del10(1)|p.N235_Y236delNY(1) large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1) 22245 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) GTTACACATGTAGTTGTAGTG 0.572 111 Mis|N|F breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types Other_conserved_DNA_damage_response_genes Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 40 32 0 0 0 0 RNFT1 51136 broad.mit.edu 37 17 58040557 58040557 + Missense_Mutation SNP G G A TCGA-BA-5555-01A-01D-1512-08 TCGA-BA-5555-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 65dc1531-713b-41ba-a567-caa12340c0cf 7c55fb6b-c9eb-4d2c-bd12-52d94e821743 g.chr17:58040557G>A uc002iya.2 - 2 238 c.145C>T c.(145-147)CCA>TCA p.P49S uc002iye.1_5'Flank|RNFT1_uc002iyb.2_RNA|RNFT1_uc002iyc.2_5'UTR|RNFT1_uc010wop.1_Missense_Mutation_p.P49S|RNFT1_uc002iyd.3_Missense_Mutation_p.P49S NM_016125 NP_057209 Q5M7Z0 RNFT1_HUMAN PTD016 protein 49 integral to membrane zinc ion binding 0 all_cancers(5;1.58e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922) Epithelial(12;7.95e-12)|all cancers(12;1.34e-10) CCAGTTCCTGGAGGACTGTGC 0.483 NA 81 67 0 0 0 0 FASN 2194 broad.mit.edu 37 17 80041948 80041948 + Silent SNP G G A TCGA-BA-5555-01A-01D-1512-08 TCGA-BA-5555-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 65dc1531-713b-41ba-a567-caa12340c0cf 7c55fb6b-c9eb-4d2c-bd12-52d94e821743 g.chr17:80041948G>A uc002kdu.2 - 29 5118 c.5001C>T c.(4999-5001)CCC>CCT p.P1667P FASN_uc002kdv.1_5'Flank NM_004104 NP_004095 P49327 FAS_HUMAN fatty acid synthase 1667 Enoyl reductase (By similarity). energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process cytosol|Golgi apparatus|melanosome|plasma membrane 3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding central_nervous_system(1) 1 all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246) OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237) Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339) GCGTCTCCCCGGGGCGCACCC 0.721 NA 3 4 0 0 0 0 LAMA1 284217 broad.mit.edu 37 18 6999495 6999495 + Missense_Mutation SNP G G A rs149937004 TCGA-BA-5555-01A-01D-1512-08 TCGA-BA-5555-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 65dc1531-713b-41ba-a567-caa12340c0cf 7c55fb6b-c9eb-4d2c-bd12-52d94e821743 g.chr18:6999495G>A uc002knm.2 - 32 4706 c.4612C>T c.(4612-4614)CGG>TGG p.R1538W LAMA1_uc010wzj.1_Missense_Mutation_p.R1014W NM_005559 NP_005550 P25391 LAMA1_HUMAN laminin, alpha 1 precursor 1538 Laminin EGF-like 17. axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development extracellular space|laminin-1 complex|laminin-3 complex extracellular matrix structural constituent|receptor binding ovary(8)|large_intestine(4)|upper_aerodigestive_tract(2)|breast(2)|skin(2)|pancreas(2)|central_nervous_system(1) 21 Colorectal(10;0.172) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) TCATCGCACCGGAGCCCCGAG 0.537 NA 7 31 0 0 0 0 CEP192 55125 broad.mit.edu 37 18 13069788 13069788 + Nonsense_Mutation SNP A A T TCGA-BA-5555-01A-01D-1512-08 TCGA-BA-5555-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 65dc1531-713b-41ba-a567-caa12340c0cf 7c55fb6b-c9eb-4d2c-bd12-52d94e821743 g.chr18:13069788A>T uc010xac.1 + 27 5187 c.5107A>T c.(5107-5109)AAA>TAA p.K1703* CEP192_uc010dlf.1_RNA|CEP192_uc010xad.1_Nonsense_Mutation_p.K1228*|CEP192_uc002kru.2_RNA|CEP192_uc002krv.2_Nonsense_Mutation_p.K125*|CEP192_uc002krw.2_5'UTR NM_032142 NP_115518 E9PF99 E9PF99_HUMAN centrosomal protein 192kDa 1703 ovary(4)|pancreas(1) 5 TCTACTCCTTAAACCTGGAGA 0.338 NA 56 158 0 0 0 0 SMAD4 4089 broad.mit.edu 37 18 48604809 48604809 + Missense_Mutation SNP C C T TCGA-BA-5555-01A-01D-1512-08 TCGA-BA-5555-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 65dc1531-713b-41ba-a567-caa12340c0cf 7c55fb6b-c9eb-4d2c-bd12-52d94e821743 g.chr18:48604809C>T uc010xdp.1 + 12 2169 c.1631C>T c.(1630-1632)CCG>CTG p.P544L SMAD4_uc002lfb.3_Missense_Mutation_p.P389L NM_005359 NP_005350 Q13485 SMAD4_HUMAN mothers against decapentaplegic homolog 4 544 MH2. BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway activin responsive factor complex|centrosome|cytosol I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity p.0?(35)|p.?(2) pancreas(170)|large_intestine(108)|thyroid(19)|lung(11)|small_intestine(9)|upper_aerodigestive_tract(8)|biliary_tract(8)|ovary(7)|breast(6)|stomach(5)|oesophagus(3)|testis(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|gastrointestinal_tract_(site_indeterminate)(2)|liver(2)|kidney(1)|urinary_tract(1)|vulva(1)|skin(1)|NS(1) 369 all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336) Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155) CATACCATGCCGATTGCAGAC 0.463 NA Juvenile_Polyposis|Hereditary_Hemorrhagic_Telangiectasia 6 139 0 0 0 0 SERPINB8 5271 broad.mit.edu 37 18 61654402 61654402 + Missense_Mutation SNP C C T rs150328649 byFrequency TCGA-BA-5555-01A-01D-1512-08 TCGA-BA-5555-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 65dc1531-713b-41ba-a567-caa12340c0cf 7c55fb6b-c9eb-4d2c-bd12-52d94e821743 g.chr18:61654402C>T uc002ljv.2 + 7 1184 c.1015C>T c.(1015-1017)CGG>TGG p.R339W SERPINB8_uc002lju.2_Missense_Mutation_p.R339W|SERPINB8_uc010xex.1_Missense_Mutation_p.R157W NM_198833 NP_942130 P50452 SPB8_HUMAN serine (or cysteine) proteinase inhibitor, clade 339 Reactive bond (By similarity). regulation of proteolysis cytosol protein binding|serine-type endopeptidase inhibitor activity skin(1) 1 Esophageal squamous(42;0.129) CAGGAATTCCCGGTGCAGCAG 0.532 NA 19 59 0 0 0 0 CDH7 1005 broad.mit.edu 37 18 63511092 63511092 + Missense_Mutation SNP A A T TCGA-BA-5555-01A-01D-1512-08 TCGA-BA-5555-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 65dc1531-713b-41ba-a567-caa12340c0cf 7c55fb6b-c9eb-4d2c-bd12-52d94e821743 g.chr18:63511092A>T uc002ljz.2 + 7 1351 c.1026A>T c.(1024-1026)GAA>GAT p.E342D CDH7_uc002lka.2_Missense_Mutation_p.E342D|CDH7_uc002lkb.2_Missense_Mutation_p.E342D NM_033646 NP_387450 Q9ULB5 CADH7_HUMAN cadherin 7, type 2 preproprotein 342 Extracellular (Potential).|Cadherin 3. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2)|pancreas(1)|skin(1) 4 Esophageal squamous(42;0.129) TACGGATAGAAGCTGCAAATA 0.443 NA 47 95 0 0 0 0 CDH7 1005 broad.mit.edu 37 18 63529970 63529970 + Missense_Mutation SNP C C T TCGA-BA-5555-01A-01D-1512-08 TCGA-BA-5555-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 65dc1531-713b-41ba-a567-caa12340c0cf 7c55fb6b-c9eb-4d2c-bd12-52d94e821743 g.chr18:63529970C>T uc002ljz.2 + 11 2006 c.1681C>T c.(1681-1683)CCA>TCA p.P561S CDH7_uc002lka.2_Missense_Mutation_p.P561S|CDH7_uc002lkb.2_Missense_Mutation_p.P561S NM_033646 NP_387450 Q9ULB5 CADH7_HUMAN cadherin 7, type 2 preproprotein 561 Extracellular (Potential).|Cadherin 5. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2)|pancreas(1)|skin(1) 4 Esophageal squamous(42;0.129) TTACTATCTGCCAATTTTCAT 0.498 NA 26 74 0 0 0 0 ZNF516 9658 broad.mit.edu 37 18 74154265 74154265 + Missense_Mutation SNP G G A TCGA-BA-5555-01A-01D-1512-08 TCGA-BA-5555-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 65dc1531-713b-41ba-a567-caa12340c0cf 7c55fb6b-c9eb-4d2c-bd12-52d94e821743 g.chr18:74154265G>A uc010dqx.1 - 2 981 c.746C>T c.(745-747)CCG>CTG p.P249L ZNF516_uc002lme.2_RNA NM_014643 NP_055458 Q92618 ZN516_HUMAN zinc finger protein 516 249 C2H2-type 5. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Prostate(75;0.0869)|Esophageal squamous(42;0.129) OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238) CACCTCGCACGGGAACTCCCC 0.687 NA 16 34 0 0 0 0 SALL3 27164 broad.mit.edu 37 18 76754386 76754386 + Missense_Mutation SNP G G A TCGA-BA-5555-01A-01D-1512-08 TCGA-BA-5555-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 65dc1531-713b-41ba-a567-caa12340c0cf 7c55fb6b-c9eb-4d2c-bd12-52d94e821743 g.chr18:76754386G>A uc002lmt.2 + 2 2395 c.2395G>A c.(2395-2397)GAC>AAC p.D799N SALL3_uc010dra.2_Missense_Mutation_p.D406N NM_171999 NP_741996 Q9BXA9 SALL3_HUMAN sal-like 3 799 DDDMDE -> NDNLDK (in Ref. 2; CAB65124). regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2)|large_intestine(1)|central_nervous_system(1) 4 Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167) OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256) CTACGATGACGACATGGACGA 0.662 NA 15 47 0 0 0 0 MUC16 94025 broad.mit.edu 37 19 9014654 9014654 + Missense_Mutation SNP C C T TCGA-BA-5555-01A-01D-1512-08 TCGA-BA-5555-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 65dc1531-713b-41ba-a567-caa12340c0cf 7c55fb6b-c9eb-4d2c-bd12-52d94e821743 g.chr19:9014654C>T uc002mkp.2 - 31 38525 c.38321G>A c.(38320-38322)CGT>CAT p.R12774H MUC16_uc010xki.1_5'Flank NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 12776 SEA 5.|Extracellular (Potential). Missing (in Ref. 3; AAK74120). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 GGGGTCAAGACGGTGGGTGCA 0.567 NA 13 56 0 0 0 0 ICAM1 3383 broad.mit.edu 37 19 10394262 10394262 + Missense_Mutation SNP T T A TCGA-BA-5555-01A-01D-1512-08 TCGA-BA-5555-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 65dc1531-713b-41ba-a567-caa12340c0cf 7c55fb6b-c9eb-4d2c-bd12-52d94e821743 g.chr19:10394262T>A uc002mnq.2 + 3 756 c.437T>A c.(436-438)CTC>CAC p.L146H ICAM1_uc010xle.1_Intron NM_000201 NP_000192 P05362 ICAM1_HUMAN intercellular adhesion molecule 1 precursor 146 Ig-like C2-type 2.|Extracellular (Potential). adhesion to symbiont|heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking|positive regulation of cellular extravasation|regulation of immune response|regulation of leukocyte mediated cytotoxicity|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell|virion attachment, binding of host cell surface receptor extracellular space|integral to plasma membrane integrin binding|transmembrane receptor activity ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;2.81e-06)|all cancers(31;6.56e-06) Natalizumab(DB00108)|Simvastatin(DB00641) CGGGCCAACCTCACCGTGGTG 0.667 NA 8 50 0 0 0 0 MYO9B 4650 broad.mit.edu 37 19 17283733 17283733 + Missense_Mutation SNP G G A TCGA-BA-5555-01A-01D-1512-08 TCGA-BA-5555-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 65dc1531-713b-41ba-a567-caa12340c0cf 7c55fb6b-c9eb-4d2c-bd12-52d94e821743 g.chr19:17283733G>A uc010eak.2 + 13 2253 c.2101G>A c.(2101-2103)GCC>ACC p.A701T MYO9B_uc002nfi.2_Missense_Mutation_p.A701T|MYO9B_uc002nfj.1_Missense_Mutation_p.A701T NM_004145 NP_004136 Q13459 MYO9B_HUMAN myosin IXB isoform 1 701 Myosin head-like. actin filament-based movement cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity breast(1) 1 GCTTCGGGAGGCCGGACGCCT 0.687 NA 4 33 0 0 0 0 UPF1 5976 broad.mit.edu 37 19 18958606 18958606 + Missense_Mutation SNP A A G TCGA-BA-5555-01A-01D-1512-08 TCGA-BA-5555-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 65dc1531-713b-41ba-a567-caa12340c0cf 7c55fb6b-c9eb-4d2c-bd12-52d94e821743 g.chr19:18958606A>G uc002nkg.2 + 3 700 c.425A>G c.(424-426)AAG>AGG p.K142R UPF1_uc002nkf.2_Missense_Mutation_p.K142R NM_002911 NP_002902 Q92900 RENT1_HUMAN regulator of nonsense transcripts 1 142 C2H2-type; atypical.|Sufficient for interaction with RENT2. cell cycle|DNA repair|DNA replication|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination chromatin|cytoplasmic mRNA processing body|exon-exon junction complex ATP binding|ATP-dependent RNA helicase activity|chromatin binding|DNA binding|protein binding|protein binding|RNA binding|zinc ion binding ovary(1)|central_nervous_system(1) 2 ACCAGCAAGAAGTGGTTCTGC 0.428 NA OREG0025373 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 17 99 0 0 0 0 LGALS7B 653499 broad.mit.edu 37 19 39281521 39281521 + Silent SNP C C T TCGA-BA-5555-01A-01D-1512-08 TCGA-BA-5555-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 65dc1531-713b-41ba-a567-caa12340c0cf 7c55fb6b-c9eb-4d2c-bd12-52d94e821743 g.chr19:39281521C>T uc002ojf.3 + 3 305 c.288C>T c.(286-288)GAC>GAT p.D96D NM_001042507 NP_001035972 P47929 LEG7_HUMAN galectin-7B 96 Galectin. apoptosis|heterophilic cell-cell adhesion cytoplasm|extracellular space|nucleus sugar binding 0 CGTCAGACGACGGCTTCAAGG 0.657 NA 5 14 0 0 0 0 FBL 2091 broad.mit.edu 37 19 40327295 40327295 + Silent SNP C C A TCGA-BA-5555-01A-01D-1512-08 TCGA-BA-5555-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 65dc1531-713b-41ba-a567-caa12340c0cf 7c55fb6b-c9eb-4d2c-bd12-52d94e821743 g.chr19:40327295C>A uc002omn.2 - 7 810 c.696G>T c.(694-696)GTG>GTT p.V232V DYRK1B_uc002omi.2_5'Flank|DYRK1B_uc002omj.2_5'Flank|DYRK1B_uc002omk.2_5'Flank|DYRK1B_uc002oml.2_5'Flank|FBL_uc002omm.1_Silent_p.V146V|FBL_uc002omo.2_Silent_p.V231V NM_001436 NP_001427 P22087 FBRL_HUMAN fibrillarin 232 rRNA processing|tRNA processing box C/D snoRNP complex|Cajal body methyltransferase activity|protein binding|RNA binding ovary(1) 1 all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06) Renal(1328;0.000518)|Hepatocellular(1079;0.0893) Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23) GBM - Glioblastoma multiforme(1328;0.000826)|STAD - Stomach adenocarcinoma(1328;0.138) CAGCAAAGATCACATCCACCA 0.537 NA 21 37 2.38e-13 2.82e-13 1 0 KCNC3 3748 broad.mit.edu 37 19 50826517 50826517 + Missense_Mutation SNP G G A TCGA-BA-5555-01A-01D-1512-08 TCGA-BA-5555-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 65dc1531-713b-41ba-a567-caa12340c0cf 7c55fb6b-c9eb-4d2c-bd12-52d94e821743 g.chr19:50826517G>A uc002pru.1 - 2 1988 c.1693C>T c.(1693-1695)CGG>TGG p.R565W KCNC3_uc002prt.1_Missense_Mutation_p.R201W NM_004977 NP_004968 Q14003 KCNC3_HUMAN Shaw-related voltage-gated potassium channel 565 Cytoplasmic (Potential). cell death voltage-gated potassium channel complex voltage-gated potassium channel activity pancreas(1) 1 all_neural(266;0.057)|Ovarian(192;0.208) OV - Ovarian serous cystadenocarcinoma(262;0.00283)|GBM - Glioblastoma multiforme(134;0.0181) TGCGGGGGCCGGGGGATGTGT 0.662 NA 16 8 0 0 0 0 ZNF419 79744 broad.mit.edu 37 19 58005043 58005043 + Missense_Mutation SNP G G A TCGA-BA-5555-01A-01D-1512-08 TCGA-BA-5555-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 65dc1531-713b-41ba-a567-caa12340c0cf 7c55fb6b-c9eb-4d2c-bd12-52d94e821743 g.chr19:58005043G>A uc002qov.2 + 5 1358 c.1118G>A c.(1117-1119)TGC>TAC p.C373Y ZNF547_uc002qpm.3_Intron|ZNF419_uc010ety.1_Missense_Mutation_p.C374Y|ZNF419_uc010etz.1_Missense_Mutation_p.C361Y|ZNF419_uc010eua.1_Missense_Mutation_p.C360Y|ZNF419_uc002qow.2_Missense_Mutation_p.C341Y|ZNF419_uc010eub.1_Missense_Mutation_p.C328Y|ZNF419_uc010euc.1_Missense_Mutation_p.C327Y NM_024691 NP_078967 Q96HQ0 ZN419_HUMAN zinc finger protein 419 isoform 2 373 C2H2-type 7. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Breast(46;0.0848)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0252)|Lung(386;0.171) CCTTACAAGTGCAGCGACTGT 0.413 NA 61 98 0 0 0 0 TTC27 55622 broad.mit.edu 37 2 32891707 32891707 + Missense_Mutation SNP T T A TCGA-BA-5555-01A-01D-1512-08 TCGA-BA-5555-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 65dc1531-713b-41ba-a567-caa12340c0cf 7c55fb6b-c9eb-4d2c-bd12-52d94e821743 g.chr2:32891707T>A uc002rom.2 + 7 1042 c.811T>A c.(811-813)TTG>ATG p.L271M TTC27_uc010ymx.1_Missense_Mutation_p.L221M NM_017735 NP_060205 Q6P3X3 TTC27_HUMAN tetratricopeptide repeat domain 27 271 protein binding central_nervous_system(1) 1 TTCAGGTGCTTTGGGAAAAAG 0.368 NA 57 101 0 0 0 0 EPAS1 2034 broad.mit.edu 37 2 46603862 46603862 + Missense_Mutation SNP C C A TCGA-BA-5555-01A-01D-1512-08 TCGA-BA-5555-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 65dc1531-713b-41ba-a567-caa12340c0cf 7c55fb6b-c9eb-4d2c-bd12-52d94e821743 g.chr2:46603862C>A uc002ruv.2 + 9 1707 c.1219C>A c.(1219-1221)CCA>ACA p.P407T EPAS1_uc002ruw.2_5'Flank NM_001430 NP_001421 Q99814 EPAS1_HUMAN endothelial PAS domain protein 1 407 angiogenesis|myoblast cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|response to hypoxia transcription factor complex histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription coactivator activity|transcription factor binding ovary(1)|skin(1) 2 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18) LUSC - Lung squamous cell carcinoma(58;0.151) GGCTCCCACCCCAGGAGACGC 0.562 NA 80 188 2.67e-37 3.49e-37 1 0 RTN4 57142 broad.mit.edu 37 2 55252252 55252252 + Missense_Mutation SNP T T C TCGA-BA-5555-01A-01D-1512-08 TCGA-BA-5555-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 65dc1531-713b-41ba-a567-caa12340c0cf 7c55fb6b-c9eb-4d2c-bd12-52d94e821743 g.chr2:55252252T>C uc002rye.2 - 3 3281 c.2983A>G c.(2983-2985)ATA>GTA p.I995V RTN4_uc002ryd.2_Missense_Mutation_p.I789V|RTN4_uc002ryf.2_Intron|RTN4_uc002ryg.2_Intron NM_020532 NP_065393 Q9NQC3 RTN4_HUMAN reticulon 4 isoform A 995 Cytoplasmic (Potential). apoptosis|axonal fasciculation|cerebral cortex radial glia guided migration|endoplasmic reticulum tubular network organization|negative regulation of anti-apoptosis|negative regulation of axon extension|nerve growth factor receptor signaling pathway|regulation of apoptosis|regulation of branching morphogenesis of a nerve|regulation of cell migration integral to endoplasmic reticulum membrane|nuclear envelope|plasma membrane protein binding ovary(2)|large_intestine(1) 3 GCTGAAAATATAGCAGATGGT 0.378 NA 64 160 0 0 0 0 NMS 129521 broad.mit.edu 37 2 101089969 101089969 + Missense_Mutation SNP A A T TCGA-BA-5555-01A-01D-1512-08 TCGA-BA-5555-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 65dc1531-713b-41ba-a567-caa12340c0cf 7c55fb6b-c9eb-4d2c-bd12-52d94e821743 g.chr2:101089969A>T uc002tan.1 + 3 158 c.151A>T c.(151-153)AGT>TGT p.S51C NM_001011717 NP_001011717 Q5H8A3 NMS_HUMAN neuromedin S precursor 51 neuropeptide signaling pathway|regulation of smooth muscle contraction extracellular region ovary(1) 1 ATATTGTCTGAGTCAGTGGGC 0.209 NA 16 45 0 0 0 0 MAP4K4 9448 broad.mit.edu 37 2 102452401 102452401 + Missense_Mutation SNP T T G TCGA-BA-5555-01A-01D-1512-08 TCGA-BA-5555-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 65dc1531-713b-41ba-a567-caa12340c0cf 7c55fb6b-c9eb-4d2c-bd12-52d94e821743 g.chr2:102452401T>G uc002tbg.2 + 9 789 c.734T>G c.(733-735)ATT>AGT p.I245S MAP4K4_uc002tbc.2_Missense_Mutation_p.I245S|MAP4K4_uc002tbd.2_Missense_Mutation_p.I245S|MAP4K4_uc002tbe.2_Missense_Mutation_p.I245S|MAP4K4_uc002tbf.2_Missense_Mutation_p.I245S|MAP4K4_uc010yvy.1_Missense_Mutation_p.I245S|MAP4K4_uc002tbh.2_Missense_Mutation_p.I245S|MAP4K4_uc002tbi.2_Intron|MAP4K4_uc010yvz.1_Missense_Mutation_p.I225S|MAP4K4_uc010fiw.1_Missense_Mutation_p.I87S|MAP4K4_uc002tbj.1_Missense_Mutation_p.I141S NM_145687 NP_663720 O95819 M4K4_HUMAN mitogen-activated protein kinase kinase kinase 245 Protein kinase. intracellular protein kinase cascade|regulation of JNK cascade|response to stress cytoplasm ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity stomach(1)|lung(1)|central_nervous_system(1)|skin(1) 4 CTGTTTCTCATTCCCAGAAAC 0.408 NA 15 50 0 0 0 0 SULT1C3 442038 broad.mit.edu 37 2 108863794 108863794 + Silent SNP T T C TCGA-BA-5555-01A-01D-1512-08 TCGA-BA-5555-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 65dc1531-713b-41ba-a567-caa12340c0cf 7c55fb6b-c9eb-4d2c-bd12-52d94e821743 g.chr2:108863794T>C uc010ywo.1 + 1 144 c.144T>C c.(142-144)GAT>GAC p.D48D NM_001008743 NP_001008743 Q6IMI6 ST1C3_HUMAN sulfotransferase family, cytosolic, 1C, member 48 cytoplasm alcohol sulfotransferase activity skin(1) 1 AGCCTGATGATCTTATTCTGG 0.338 NA 19 173 0 0 0 0 ANAPC1 64682 broad.mit.edu 37 2 112638249 112638249 + Missense_Mutation SNP C C T TCGA-BA-5555-01A-01D-1512-08 TCGA-BA-5555-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 65dc1531-713b-41ba-a567-caa12340c0cf 7c55fb6b-c9eb-4d2c-bd12-52d94e821743 g.chr2:112638249C>T uc002thi.2 - 2 401 c.154G>A c.(154-156)GAT>AAT p.D52N ANAPC1_uc002thj.2_Missense_Mutation_p.D42N NM_022662 NP_073153 Q9H1A4 APC1_HUMAN anaphase promoting complex subunit 1 52 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination anaphase-promoting complex|cytosol|nucleoplasm skin(2) 2 GCAGCACCATCAGAAGACCAT 0.473 NA 11 57 0 0 0 0 SLC35F5 80255 broad.mit.edu 37 2 114501302 114501302 + Missense_Mutation SNP C C A TCGA-BA-5555-01A-01D-1512-08 TCGA-BA-5555-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 65dc1531-713b-41ba-a567-caa12340c0cf 7c55fb6b-c9eb-4d2c-bd12-52d94e821743 g.chr2:114501302C>A uc002tku.1 - 6 974 c.550G>T c.(550-552)GAT>TAT p.D184Y SLC35F5_uc002tkt.2_RNA|SLC35F5_uc002tkv.2_Missense_Mutation_p.D178Y|SLC35F5_uc002tkw.2_Missense_Mutation_p.D184Y NM_025181 NP_079457 Q8WV83 S35F5_HUMAN solute carrier family 35, member F5 184 transport integral to membrane 0 TTTTCAGTATCAATGTTTGTG 0.358 NA 70 218 1.38e-34 1.78e-34 1 0 PTPN4 5775 broad.mit.edu 37 2 120718402 120718402 + Missense_Mutation SNP G G T TCGA-BA-5555-01A-01D-1512-08 TCGA-BA-5555-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 65dc1531-713b-41ba-a567-caa12340c0cf 7c55fb6b-c9eb-4d2c-bd12-52d94e821743 g.chr2:120718402G>T uc002tmf.1 + 23 2924 c.2153G>T c.(2152-2154)AGC>ATC p.S718I PTPN4_uc010flj.1_Missense_Mutation_p.S431I|PTPN4_uc010yyr.1_Missense_Mutation_p.S351I NM_002830 NP_002821 P29074 PTN4_HUMAN protein tyrosine phosphatase, non-receptor type 718 Tyrosine-protein phosphatase. cytoplasm|cytoskeleton|internal side of plasma membrane cytoskeletal protein binding|non-membrane spanning protein tyrosine phosphatase activity ovary(2) 2 Alendronate(DB00630) CCTTCTTCCAGCATTATAAAT 0.358 NA 67 155 1.2e-24 1.5e-24 1 0 POTEE 445582 broad.mit.edu 37 2 132020968 132020968 + Missense_Mutation SNP A A G TCGA-BA-5555-01A-01D-1512-08 TCGA-BA-5555-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 65dc1531-713b-41ba-a567-caa12340c0cf 7c55fb6b-c9eb-4d2c-bd12-52d94e821743 g.chr2:132020968A>G uc002tsn.2 + 15 1992 c.1940A>G c.(1939-1941)GAA>GGA p.E647G PLEKHB2_uc002tsh.2_Intron|POTEE_uc002tsk.2_Missense_Mutation_p.E247G|POTEE_uc002tsl.2_Missense_Mutation_p.E229G|POTEE_uc010fmy.1_Missense_Mutation_p.E111G NM_001083538 NP_001077007 Q6S8J3 POTEE_HUMAN protein expressed in prostate, ovary, testis, 647 Potential. ATP binding 0 GTCTTGCATGAAAATAGTACG 0.348 NA 26 52 0 0 0 0 ARL6IP6 151188 broad.mit.edu 37 2 153591558 153591558 + Missense_Mutation SNP A A T TCGA-BA-5555-01A-01D-1512-08 TCGA-BA-5555-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 65dc1531-713b-41ba-a567-caa12340c0cf 7c55fb6b-c9eb-4d2c-bd12-52d94e821743 g.chr2:153591558A>T uc002tyn.2 + 3 1221 c.505A>T c.(505-507)AGC>TGC p.S169C ARL6IP6_uc002tym.2_RNA|ARL6IP6_uc002tyo.2_Missense_Mutation_p.S61C NM_152522 NP_689735 Q8N6S5 AR6P6_HUMAN ADP-ribosylation-like factor 6 interacting 169 Helical; (Potential). integral to membrane 0 CTCCTGTTGCAGCTTTTCTTG 0.393 NA 109 225 0 0 0 0 TTN 7273 broad.mit.edu 37 2 179432093 179432093 + Missense_Mutation SNP C C T TCGA-BA-5555-01A-01D-1512-08 TCGA-BA-5555-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 65dc1531-713b-41ba-a567-caa12340c0cf 7c55fb6b-c9eb-4d2c-bd12-52d94e821743 g.chr2:179432093C>T uc010zfg.1 - 275 71286 c.71062G>A c.(71062-71064)GCA>ACA p.A23688T uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.A17383T|TTN_uc010zfi.1_Missense_Mutation_p.A17316T|TTN_uc010zfj.1_Missense_Mutation_p.A17191T NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 24615 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) ATTCTAATTGCATCTTTTACA 0.353 NA 11 415 0 0 0 0 TOP1 7150 broad.mit.edu 37 20 39706251 39706251 + Silent SNP G G A TCGA-BA-5555-01A-01D-1512-08 TCGA-BA-5555-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 65dc1531-713b-41ba-a567-caa12340c0cf 7c55fb6b-c9eb-4d2c-bd12-52d94e821743 g.chr20:39706251G>A uc002xjl.2 + 5 555 c.309G>A c.(307-309)AAG>AAA p.K103K TOP1_uc010gge.1_RNA NM_003286 NP_003277 P11387 TOP1_HUMAN DNA topoisomerase I 103 Lys-rich. K->R: Localizes in both nucleoplasm and nucleoli; when associated with R-117 or R-153. Almost complete loss of sumoylation, concentrates in nucleoli and no clearing from nucleoli on CPT treatment; when associated with R-117 and R-153. DNA topological change|interspecies interaction between organisms|phosphorylation|programmed cell death|response to drug chromosome|nucleolus|nucleoplasm ATP binding|chromatin DNA binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity|protein binding breast(3)|ovary(2)|central_nervous_system(1)|kidney(1) 7 Myeloproliferative disorder(115;0.00878) Irinotecan(DB00762)|Lucanthone(DB04967)|Topotecan(DB01030) CAAAAATAAAGAAGGAGAAGG 0.438 NA T NUP98 AML* 81 71 0 0 0 0 MATN4 8785 broad.mit.edu 37 20 43933064 43933064 + Silent SNP C C T TCGA-BA-5555-01A-01D-1512-08 TCGA-BA-5555-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 65dc1531-713b-41ba-a567-caa12340c0cf 7c55fb6b-c9eb-4d2c-bd12-52d94e821743 g.chr20:43933064C>T uc002xnn.2 - 3 634 c.447G>A c.(445-447)CGG>CGA p.R149R MATN4_uc002xno.2_Silent_p.R149R|MATN4_uc002xnp.2_Silent_p.R149R|MATN4_uc010zwr.1_Silent_p.R97R|MATN4_uc002xnr.1_Silent_p.R149R|RBPJL_uc002xns.2_5'Flank|RBPJL_uc002xnt.2_5'Flank NM_003833 NP_003824 O95460 MATN4_HUMAN matrilin 4 isoform 1 precursor 149 VWFA 1. extracellular region protein binding 0 Myeloproliferative disorder(115;0.0122) GGTCCTGGGGCCGCCCGTCTG 0.721 NA 6 7 0 0 0 0 PIGT 51604 broad.mit.edu 37 20 44045291 44045291 + Missense_Mutation SNP T T A TCGA-BA-5555-01A-01D-1512-08 TCGA-BA-5555-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 65dc1531-713b-41ba-a567-caa12340c0cf 7c55fb6b-c9eb-4d2c-bd12-52d94e821743 g.chr20:44045291T>A uc002xoh.1 + 2 395 c.322T>A c.(322-324)TCA>ACA p.S108T PIGT_uc010ghb.1_Missense_Mutation_p.S108T|PIGT_uc010zwt.1_RNA|PIGT_uc010ghd.1_Intron|PIGT_uc010ghc.1_RNA|PIGT_uc010ghe.1_Missense_Mutation_p.S108T|PIGT_uc010ghf.1_Missense_Mutation_p.S108T|PIGT_uc002xoj.1_Missense_Mutation_p.S108T|PIGT_uc002xok.1_Missense_Mutation_p.S108T|PIGT_uc010zwu.1_5'UTR|PIGT_uc002xoi.1_RNA|PIGT_uc010zwv.1_Intron|PIGT_uc010zww.1_Missense_Mutation_p.S108T|PIGT_uc010zwx.1_5'UTR|PIGT_uc010zwy.1_Intron|PIGT_uc010zwz.1_Intron|PIGT_uc010zxa.1_5'UTR|PIGT_uc002xol.1_5'Flank NM_015937 NP_057021 Q969N2 PIGT_HUMAN phosphatidylinositol glycan anchor biosynthesis, 108 Lumenal (Potential). attachment of GPI anchor to protein|C-terminal protein lipidation GPI-anchor transamidase complex protein binding pancreas(1) 1 Myeloproliferative disorder(115;0.0122) GCAGGCCCCATCAGGTGCAGA 0.582 NA 7 35 0 0 0 0 KCNB1 3745 broad.mit.edu 37 20 47991215 47991215 + Silent SNP G G A TCGA-BA-5555-01A-01D-1512-08 TCGA-BA-5555-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 65dc1531-713b-41ba-a567-caa12340c0cf 7c55fb6b-c9eb-4d2c-bd12-52d94e821743 g.chr20:47991215G>A uc002xur.1 - 2 1046 c.882C>T c.(880-882)CGC>CGT p.R294R KCNB1_uc002xus.1_Silent_p.R294R NM_004975 NP_004966 Q14721 KCNB1_HUMAN potassium voltage-gated channel, Shab-related 294 energy reserve metabolic process|regulation of insulin secretion voltage-gated potassium channel complex protein binding|voltage-gated potassium channel activity p.R294R(1) pancreas(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166) TCTGGACCACGCGGCGGACAT 0.532 NA 9 78 0 0 0 0 HSPA13 6782 broad.mit.edu 37 21 15753858 15753858 + Missense_Mutation SNP G G A TCGA-BA-5555-01A-01D-1512-08 TCGA-BA-5555-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 65dc1531-713b-41ba-a567-caa12340c0cf 7c55fb6b-c9eb-4d2c-bd12-52d94e821743 g.chr21:15753858G>A uc002yjt.2 - 2 101 c.32C>T c.(31-33)GCT>GTT p.A11V HSPA13_uc011abx.1_5'UTR NM_006948 NP_008879 P48723 HSP13_HUMAN heat shock protein 70kDa family member 13 11 endoplasmic reticulum|microsome ATP binding kidney(1) 1 AGTCAAAACAGCCGATCCTGA 0.363 NA 3 18 0 0 0 0 C21orf7 56911 broad.mit.edu 37 21 30521536 30521536 + Missense_Mutation SNP C C T TCGA-BA-5555-01A-01D-1512-08 TCGA-BA-5555-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 65dc1531-713b-41ba-a567-caa12340c0cf 7c55fb6b-c9eb-4d2c-bd12-52d94e821743 g.chr21:30521536C>T uc002yne.2 + 6 668 c.397C>T c.(397-399)CCT>TCT p.P133S C21orf7_uc011acr.1_RNA|C21orf7_uc002ynd.2_RNA|C21orf7_uc010gln.2_RNA|C21orf7_uc002ynf.2_Missense_Mutation_p.P133S|C21orf7_uc010glo.2_5'UTR|C21orf7_uc002yng.2_Missense_Mutation_p.P33S|C21orf7_uc010glp.2_RNA NM_020152 NP_064537 P57077 TAK1L_HUMAN chromosome 21 open reading frame 7 133 cytosol|nucleus protein binding ovary(2) 2 Colorectal(56;0.248) AGACTCCATTCCTTTGGTCTT 0.423 NA 138 102 0 0 0 0 MICAL3 57553 broad.mit.edu 37 22 18369952 18369952 + Missense_Mutation SNP G G A TCGA-BA-5555-01A-01D-1512-08 TCGA-BA-5555-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 65dc1531-713b-41ba-a567-caa12340c0cf 7c55fb6b-c9eb-4d2c-bd12-52d94e821743 g.chr22:18369952G>A uc002zng.3 - 15 2404 c.2051C>T c.(2050-2052)ACC>ATC p.T684I MICAL3_uc011agl.1_Missense_Mutation_p.T684I|MICAL3_uc002znh.2_Missense_Mutation_p.T684I|MICAL3_uc002znj.1_Missense_Mutation_p.T384I|MICAL3_uc002znk.1_Missense_Mutation_p.T684I|MICAL3_uc002znl.1_Missense_Mutation_p.T317I|MICAL3_uc002znm.2_Missense_Mutation_p.T185I|MICAL3_uc010grf.2_Missense_Mutation_p.T684I NM_015241 NP_056056 Q7RTP6 MICA3_HUMAN microtubule associated monoxygenase, calponin 684 cytoplasm|cytoskeleton monooxygenase activity|zinc ion binding 0 all_epithelial(15;0.198) Lung(27;0.0427) TGATTGACTGGTCTTTCTCCT 0.433 NA 19 48 0 0 0 0 TIMP3 7078 broad.mit.edu 37 22 33253268 33253268 + Silent SNP G G C TCGA-BA-5555-01A-01D-1512-08 TCGA-BA-5555-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 65dc1531-713b-41ba-a567-caa12340c0cf 7c55fb6b-c9eb-4d2c-bd12-52d94e821743 g.chr22:33253268G>C uc003anb.2 + 3 1423 c.237G>C c.(235-237)GTG>GTC p.V79V SYN3_uc003amx.2_Intron|SYN3_uc003amy.2_Intron|SYN3_uc003amz.2_Intron NM_000362 NP_000353 P35625 TIMP3_HUMAN tissue inhibitor of metalloproteinase 3 79 NTR. negative regulation of membrane protein ectodomain proteolysis|visual perception metal ion binding|metalloendopeptidase inhibitor activity|protein binding lung(1) 1 TGCCCCATGTGCAGTACATCC 0.453 NA 62 129 0 0 0 0 TTLL12 23170 broad.mit.edu 37 22 43575707 43575707 + Missense_Mutation SNP T T C TCGA-BA-5555-01A-01D-1512-08 TCGA-BA-5555-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 65dc1531-713b-41ba-a567-caa12340c0cf 7c55fb6b-c9eb-4d2c-bd12-52d94e821743 g.chr22:43575707T>C uc003bdq.2 - 5 790 c.758A>G c.(757-759)AAG>AGG p.K253R TTLL12_uc003bdr.1_Missense_Mutation_p.K253R NM_015140 NP_055955 Q14166 TTL12_HUMAN tubulin tyrosine ligase-like family, member 12 253 protein modification process tubulin-tyrosine ligase activity central_nervous_system(1) 1 Ovarian(80;0.221)|Glioma(61;0.222) CAGCATGCACTTCCGGATCAG 0.662 NA 52 135 0 0 0 0 MOV10L1 54456 broad.mit.edu 37 22 50591608 50591608 + Silent SNP G G A TCGA-BA-5555-01A-01D-1512-08 TCGA-BA-5555-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 65dc1531-713b-41ba-a567-caa12340c0cf 7c55fb6b-c9eb-4d2c-bd12-52d94e821743 g.chr22:50591608G>A uc003bjj.2 + 22 3110 c.3027G>A c.(3025-3027)TTG>TTA p.L1009L MOV10L1_uc003bjk.3_Silent_p.L1009L|MOV10L1_uc011arp.1_Silent_p.L989L|MOV10L1_uc003bjl.2_Silent_p.L136L|MOV10L1_uc003bjm.1_Silent_p.L52L NM_018995 NP_061868 Q9BXT6 M10L1_HUMAN MOV10-like 1 isoform 1 1009 germ cell development|multicellular organismal development|spermatogenesis ATP binding|ATP-dependent RNA helicase activity|magnesium ion binding|RNA binding ovary(2)|skin(1) 3 all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114) LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24) GGGAGAAGTTGCCTAAGAAAG 0.582 NA 58 166 0 0 0 0 PLXNB2 23654 broad.mit.edu 37 22 50721196 50721196 + Missense_Mutation SNP G G C TCGA-BA-5555-01A-01D-1512-08 TCGA-BA-5555-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 65dc1531-713b-41ba-a567-caa12340c0cf 7c55fb6b-c9eb-4d2c-bd12-52d94e821743 g.chr22:50721196G>C uc003bkv.3 - 18 3037 c.2931C>G c.(2929-2931)TTC>TTG p.F977L PLXNB2_uc003bkt.1_5'Flank|PLXNB2_uc003bku.1_5'Flank NM_012401 NP_036533 O15031 PLXB2_HUMAN plexin B2 precursor 977 Extracellular (Potential).|IPT/TIG 2. regulation of small GTPase mediated signal transduction integral to membrane|intracellular GTPase activator activity|protein binding|receptor activity ovary(4)|central_nervous_system(1)|skin(1) 6 all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) CGCGGTAGGTGAAGAAGATGC 0.677 NA 7 34 0 0 0 0 FOXP1 27086 broad.mit.edu 37 3 71247445 71247445 + Missense_Mutation SNP C C A TCGA-BA-5555-01A-01D-1512-08 TCGA-BA-5555-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 65dc1531-713b-41ba-a567-caa12340c0cf 7c55fb6b-c9eb-4d2c-bd12-52d94e821743 g.chr3:71247445C>A uc003dol.2 - 2 411 c.88G>T c.(88-90)GGC>TGC p.G30C FOXP1_uc003dom.2_Missense_Mutation_p.G30C|FOXP1_uc003don.2_RNA|FOXP1_uc003doo.2_Missense_Mutation_p.G30C|FOXP1_uc003dop.2_Missense_Mutation_p.G30C|FOXP1_uc003doq.1_Missense_Mutation_p.G30C|FOXP1_uc003dos.2_Missense_Mutation_p.G30C NM_032682 NP_116071 Q9H334 FOXP1_HUMAN forkhead box P1 isoform 1 30 cardiac muscle cell differentiation|embryo development|immunoglobulin V(D)J recombination|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of immunoglobulin production|positive regulation of mesenchymal cell proliferation|pre-B cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|skeletal muscle tissue development|smooth muscle tissue development cytoplasm|transcription factor complex chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding ovary(1)|lung(1) 2 Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209) BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05) CGAAGACCGCCGCACTCTAGT 0.602 NA T PAX5 ALL 69 98 2.7e-31 3.46e-31 1 0 CLCN2 1181 broad.mit.edu 37 3 184069802 184069802 + Missense_Mutation SNP T T G TCGA-BA-5555-01A-01D-1512-08 TCGA-BA-5555-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 65dc1531-713b-41ba-a567-caa12340c0cf 7c55fb6b-c9eb-4d2c-bd12-52d94e821743 g.chr3:184069802T>G uc003foi.2 - 22 2538 c.2414A>C c.(2413-2415)AAG>ACG p.K805T CLCN2_uc003foh.2_Intron|CLCN2_uc010hya.1_Missense_Mutation_p.K788T|CLCN2_uc011brl.1_Missense_Mutation_p.K805T|CLCN2_uc011brm.1_Missense_Mutation_p.K761T NM_004366 NP_004357 P51788 CLCN2_HUMAN chloride channel 2 805 CBS 2.|Cytoplasmic (By similarity). chloride channel complex voltage-gated chloride channel activity 0 all_cancers(143;6.66e-11)|Ovarian(172;0.0339) Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) Lubiprostone(DB01046) TGGCCCTACCTTGTGCAAAGA 0.577 NA 483 156 0 0 0 0 TFRC 7037 broad.mit.edu 37 3 195780420 195780420 + Missense_Mutation SNP G G T TCGA-BA-5555-01A-01D-1512-08 TCGA-BA-5555-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 65dc1531-713b-41ba-a567-caa12340c0cf 7c55fb6b-c9eb-4d2c-bd12-52d94e821743 g.chr3:195780420G>T uc003fvz.3 - 18 2192 c.1909C>A c.(1909-1911)CTG>ATG p.L637M TFRC_uc003fwa.3_Missense_Mutation_p.L637M|TFRC_uc010hzy.2_Missense_Mutation_p.L556M|TFRC_uc011btr.1_Missense_Mutation_p.L355M NM_003234 NP_003225 P02786 TFR1_HUMAN transferrin receptor 637 Extracellular (Potential).|Ligand-binding. cellular iron ion homeostasis|endocytosis|interspecies interaction between organisms|proteolysis|transferrin transport|transmembrane transport coated pit|endosome|integral to plasma membrane|melanosome peptidase activity|transferrin receptor activity ovary(3) 3 all_cancers(143;1.94e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Epithelial(36;1.36e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.17e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00233) TGTAAACTCAGGCCCATTTCC 0.393 NA T BCL6 NHL 101 80 1.19e-48 1.57e-48 1 0 GBA3 57733 broad.mit.edu 37 4 22749649 22749649 + Silent SNP T T A TCGA-BA-5555-01A-01D-1512-08 TCGA-BA-5555-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 65dc1531-713b-41ba-a567-caa12340c0cf 7c55fb6b-c9eb-4d2c-bd12-52d94e821743 g.chr4:22749649T>A uc003gqp.3 + 3 1108 c.1017T>A c.(1015-1017)TCT>TCA p.S339S GBA3_uc010iep.2_Intron|GBA3_uc011bxo.1_Silent_p.S340S NM_020973 NP_066024 Q9H227 GBA3_HUMAN cytosolic beta-glucosidase isoform a 339 glycoside catabolic process|glycosylceramide catabolic process cytosol beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity 0 CAGATCCATCTTGGAAAAATG 0.368 NA 13 15 0 0 0 0 SLC4A4 8671 broad.mit.edu 37 4 72429555 72429555 + Missense_Mutation SNP A A G rs150809470 TCGA-BA-5555-01A-01D-1512-08 TCGA-BA-5555-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 65dc1531-713b-41ba-a567-caa12340c0cf 7c55fb6b-c9eb-4d2c-bd12-52d94e821743 g.chr4:72429555A>G uc003hfy.2 + 24 3262 c.3145A>G c.(3145-3147)ATG>GTG p.M1049V SLC4A4_uc010iic.2_Intron|SLC4A4_uc010iib.2_Missense_Mutation_p.M965V|SLC4A4_uc003hfz.2_Missense_Mutation_p.M1049V|SLC4A4_uc003hgc.3_Missense_Mutation_p.M1005V|SLC4A4_uc010iid.2_Missense_Mutation_p.M253V NM_001098484 NP_001091954 Q9Y6R1 S4A4_HUMAN solute carrier family 4, sodium bicarbonate 1049 Cytoplasmic (Potential). basolateral plasma membrane|integral to plasma membrane inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity ovary(3)|kidney(1)|skin(1) 5 Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225) TAAAATTCCAATGGACATCAT 0.373 NA 86 138 0 0 0 0 ENPEP 2028 broad.mit.edu 37 4 111474548 111474548 + Missense_Mutation SNP A A G TCGA-BA-5555-01A-01D-1512-08 TCGA-BA-5555-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 65dc1531-713b-41ba-a567-caa12340c0cf 7c55fb6b-c9eb-4d2c-bd12-52d94e821743 g.chr4:111474548A>G uc003iab.3 + 18 2921 c.2579A>G c.(2578-2580)AAC>AGC p.N860S NM_001977 NP_001968 Q07075 AMPE_HUMAN glutamyl aminopeptidase 860 Extracellular (Potential). cell migration|cell proliferation|cell-cell signaling|proteolysis integral to plasma membrane aminopeptidase activity|metalloexopeptidase activity|zinc ion binding skin(3)|ovary(1)|breast(1) 5 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.0031) L-Glutamic Acid(DB00142) ATCTCATATAACAGCTATGGG 0.393 NA 121 129 0 0 0 0 FNIP2 57600 broad.mit.edu 37 4 159782919 159782919 + Missense_Mutation SNP G G A TCGA-BA-5555-01A-01D-1512-08 TCGA-BA-5555-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 65dc1531-713b-41ba-a567-caa12340c0cf 7c55fb6b-c9eb-4d2c-bd12-52d94e821743 g.chr4:159782919G>A uc003iqe.3 + 12 1639 c.1456G>A c.(1456-1458)GCA>ACA p.A486T NM_020840 NP_065891 Q9P278 FNIP2_HUMAN folliculin interacting protein 2 486 DNA damage response, signal transduction resulting in induction of apoptosis|protein phosphorylation|regulation of protein phosphorylation cytoplasm protein binding 0 all_hematologic(180;0.24) COAD - Colon adenocarcinoma(41;0.00936) TCCTCTTTGGGCACAGCTGGG 0.443 NA 108 114 0 0 0 0 SPATA4 132851 broad.mit.edu 37 4 177113893 177113893 + Silent SNP G G A TCGA-BA-5555-01A-01D-1512-08 TCGA-BA-5555-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 65dc1531-713b-41ba-a567-caa12340c0cf 7c55fb6b-c9eb-4d2c-bd12-52d94e821743 g.chr4:177113893G>A uc003iuo.1 - 4 682 c.573C>T c.(571-573)AAC>AAT p.N191N NM_144644 NP_653245 Q8NEY3 SPAT4_HUMAN spermatogenesis associated 4 191 apoptosis|spermatogenesis 0 Breast(14;0.0011)|Prostate(90;0.0129)|Melanoma(52;0.0133)|Renal(120;0.0376)|all_hematologic(60;0.124) all cancers(43;2.9e-20)|Epithelial(43;1.99e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.58e-09)|GBM - Glioblastoma multiforme(59;0.000162)|STAD - Stomach adenocarcinoma(60;0.000543)|LUSC - Lung squamous cell carcinoma(193;0.096) ATAACCTAATGTTATCTTTAA 0.383 NA 49 57 0 0 0 0 AHRR 57491 broad.mit.edu 37 5 423993 423993 + Silent SNP G G A TCGA-BA-5555-01A-01D-1512-08 TCGA-BA-5555-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 65dc1531-713b-41ba-a567-caa12340c0cf 7c55fb6b-c9eb-4d2c-bd12-52d94e821743 g.chr5:423993G>A uc003jav.2 + 7 665 c.621G>A c.(619-621)CAG>CAA p.Q207Q AHRR_uc003jaw.2_Silent_p.Q203Q|AHRR_uc010isy.2_Silent_p.Q53Q|AHRR_uc010isz.2_Silent_p.Q203Q|AHRR_uc003jax.2_5'UTR|AHRR_uc003jay.2_Silent_p.Q63Q NM_020731 NP_065782 A9YTQ3 AHRR_HUMAN arylhydrocarbon receptor repressor 207 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|signal transducer activity breast(2) 2 Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863) TCAGGGCCCAGGAGTGGGGCA 0.657 NA 54 59 0 0 0 0 ADAMTS16 170690 broad.mit.edu 37 5 5182363 5182363 + Missense_Mutation SNP C C G TCGA-BA-5555-01A-01D-1512-08 TCGA-BA-5555-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 65dc1531-713b-41ba-a567-caa12340c0cf 7c55fb6b-c9eb-4d2c-bd12-52d94e821743 g.chr5:5182363C>G uc003jdl.2 + 4 846 c.708C>G c.(706-708)AGC>AGG p.S236R ADAMTS16_uc003jdk.1_Missense_Mutation_p.S236R|ADAMTS16_uc003jdj.1_Missense_Mutation_p.S236R NM_139056 NP_620687 Q8TE57 ATS16_HUMAN ADAM metallopeptidase with thrombospondin type 1 236 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(3)|lung(2)|large_intestine(1)|breast(1)|pancreas(1) 8 TGCACAGCAGCGACCTTCGCC 0.522 NA 46 82 0 0 0 0 PRDM9 56979 broad.mit.edu 37 5 23527862 23527862 + Missense_Mutation SNP G G T TCGA-BA-5555-01A-01D-1512-08 TCGA-BA-5555-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 65dc1531-713b-41ba-a567-caa12340c0cf 7c55fb6b-c9eb-4d2c-bd12-52d94e821743 g.chr5:23527862G>T uc003jgo.2 + 11 2847 c.2665G>T c.(2665-2667)GTC>TTC p.V889F NM_020227 NP_064612 Q9NQV7 PRDM9_HUMAN PR domain containing 9 889 meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleoplasm histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding ovary(3)|large_intestine(2)|pancreas(1) 6 GAAGCCCTACGTCTGCAGGGA 0.522 NA HNSCC(3;0.000094) 17 112 6.5e-13 7.65e-13 1 0 C7 730 broad.mit.edu 37 5 40981608 40981608 + Missense_Mutation SNP C C T TCGA-BA-5555-01A-01D-1512-08 TCGA-BA-5555-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 65dc1531-713b-41ba-a567-caa12340c0cf 7c55fb6b-c9eb-4d2c-bd12-52d94e821743 g.chr5:40981608C>T uc003jmh.2 + 18 2579 c.2465C>T c.(2464-2466)GCT>GTT p.A822V NM_000587 NP_000578 P10643 CO7_HUMAN complement component 7 precursor 822 Complement control factor I module 2. GA -> AL (in Ref. 3). complement activation, alternative pathway|complement activation, classical pathway|cytolysis extracellular region|membrane attack complex 0 Ovarian(839;0.0112) GAGGCGGGCGCTCTGAGATGC 0.567 NA 22 36 0 0 0 0 HCN1 348980 broad.mit.edu 37 5 45262156 45262156 + Nonsense_Mutation SNP G G T TCGA-BA-5555-01A-01D-1512-08 TCGA-BA-5555-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 65dc1531-713b-41ba-a567-caa12340c0cf 7c55fb6b-c9eb-4d2c-bd12-52d94e821743 g.chr5:45262156G>T uc003jok.2 - 8 2565 c.2540C>A c.(2539-2541)TCG>TAG p.S847* NM_021072 NP_066550 O60741 HCN1_HUMAN hyperpolarization activated cyclic 847 Cytoplasmic (Potential). integral to membrane cAMP binding|sodium channel activity|voltage-gated potassium channel activity ovary(1) 1 GATGGCTCCCGACGACATCTG 0.642 NA 46 180 9.59e-17 1.17e-16 1 0 MAP1B 4131 broad.mit.edu 37 5 71494697 71494697 + Missense_Mutation SNP G G A TCGA-BA-5555-01A-01D-1512-08 TCGA-BA-5555-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 65dc1531-713b-41ba-a567-caa12340c0cf 7c55fb6b-c9eb-4d2c-bd12-52d94e821743 g.chr5:71494697G>A uc003kbw.3 + 5 5756 c.5515G>A c.(5515-5517)GAT>AAT p.D1839N MAP1B_uc010iyw.1_Missense_Mutation_p.D1856N|MAP1B_uc010iyx.1_Missense_Mutation_p.D1713N|MAP1B_uc010iyy.1_Missense_Mutation_p.D1713N NM_005909 NP_005900 P46821 MAP1B_HUMAN microtubule-associated protein 1B 1839 microtubule|microtubule associated complex structural molecule activity large_intestine(2)|ovary(1)|central_nervous_system(1)|pancreas(1) 5 Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;7.99e-54) AGTGTTATTCGATACAATGCA 0.493 NA 40 44 0 0 0 0 FBN2 2201 broad.mit.edu 37 5 127646995 127646995 + Missense_Mutation SNP C C G TCGA-BA-5555-01A-01D-1512-08 TCGA-BA-5555-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 65dc1531-713b-41ba-a567-caa12340c0cf 7c55fb6b-c9eb-4d2c-bd12-52d94e821743 g.chr5:127646995C>G uc003kuu.2 - 39 5510 c.5071G>C c.(5071-5073)GAA>CAA p.E1691Q NM_001999 NP_001990 P35556 FBN2_HUMAN fibrillin 2 precursor 1691 EGF-like 27; calcium-binding. bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation microfibril calcium ion binding|extracellular matrix structural constituent ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1) 15 all_cancers(142;0.0216)|Prostate(80;0.0551) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146) ATCTCACCTTCACAGATGCGG 0.498 NA 21 25 0 0 0 0 FAM13B 51306 broad.mit.edu 37 5 137346746 137346746 + Missense_Mutation SNP T T A TCGA-BA-5555-01A-01D-1512-08 TCGA-BA-5555-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 65dc1531-713b-41ba-a567-caa12340c0cf 7c55fb6b-c9eb-4d2c-bd12-52d94e821743 g.chr5:137346746T>A uc003lbz.2 - 6 1175 c.641A>T c.(640-642)AAT>ATT p.N214I FAM13B_uc003lcb.2_Missense_Mutation_p.N96I|FAM13B_uc003lca.2_Missense_Mutation_p.N214I NM_016603 NP_057687 Q9NYF5 FA13B_HUMAN hypothetical protein LOC51306 isoform 1 214 Glu-rich. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity 0 TTCCTCTTCATTCTCAAAAAA 0.303 NA 70 60 0 0 0 0 NSD1 64324 broad.mit.edu 37 5 176637762 176637762 + Nonsense_Mutation SNP C C T TCGA-BA-5555-01A-01D-1512-08 TCGA-BA-5555-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 65dc1531-713b-41ba-a567-caa12340c0cf 7c55fb6b-c9eb-4d2c-bd12-52d94e821743 g.chr5:176637762C>T uc003mfr.3 + 5 2500 c.2362C>T c.(2362-2364)CGA>TGA p.R788* NSD1_uc003mft.3_Nonsense_Mutation_p.R519*|NSD1_uc003mfs.1_Nonsense_Mutation_p.R685*|NSD1_uc011dfx.1_Nonsense_Mutation_p.R436* NM_022455 NP_071900 Q96L73 NSD1_HUMAN nuclear receptor binding SET domain protein 1 788 negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding ovary(2)|kidney(1) 3 all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198) Kidney(146;0.235) GCCCAAGTTCCGAAGTATAAA 0.413 NA T NUP98 AML Sotos Syndrome Beckwith-Wiedemann_syndrome|Sotos_syndrome|Weaver_syndrome HNSCC(47;0.14) 38 45 0 0 0 0 PGBD1 84547 broad.mit.edu 37 6 28269689 28269689 + Missense_Mutation SNP G G C TCGA-BA-5555-01A-01D-1512-08 TCGA-BA-5555-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 65dc1531-713b-41ba-a567-caa12340c0cf 7c55fb6b-c9eb-4d2c-bd12-52d94e821743 g.chr6:28269689G>C uc003nky.2 + 7 2428 c.2058G>C c.(2056-2058)TTG>TTC p.L686F PGBD1_uc003nkz.2_Missense_Mutation_p.L686F NM_032507 NP_115896 Q96JS3 PGBD1_HUMAN piggyBac transposable element derived 1 686 viral reproduction membrane|nucleus scavenger receptor activity|sequence-specific DNA binding transcription factor activity ovary(4) 4 AGATAATTTTGTGTCGTTGGT 0.388 NA 84 311 0 0 0 0 NOTCH4 4855 broad.mit.edu 37 6 32168683 32168683 + Missense_Mutation SNP C C T TCGA-BA-5555-01A-01D-1512-08 TCGA-BA-5555-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 65dc1531-713b-41ba-a567-caa12340c0cf 7c55fb6b-c9eb-4d2c-bd12-52d94e821743 g.chr6:32168683C>T uc003obb.2 - 23 4379 c.4240G>A c.(4240-4242)GCG>ACG p.A1414T NOTCH4_uc003oba.2_Missense_Mutation_p.A77T|NOTCH4_uc011dpu.1_RNA|NOTCH4_uc011dpv.1_RNA NM_004557 NP_004548 Q99466 NOTC4_HUMAN notch4 preproprotein 1414 Extracellular (Potential). cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm calcium ion binding|protein heterodimerization activity|receptor activity lung(8)|ovary(5)|breast(4)|central_nervous_system(3)|upper_aerodigestive_tract(1)|skin(1) 22 GCAGCCATCGCAGCAAGGAAG 0.647 NA 30 33 0 0 0 0 NOTCH4 4855 broad.mit.edu 37 6 32188357 32188357 + Silent SNP G G A TCGA-BA-5555-01A-01D-1512-08 TCGA-BA-5555-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 65dc1531-713b-41ba-a567-caa12340c0cf 7c55fb6b-c9eb-4d2c-bd12-52d94e821743 g.chr6:32188357G>A uc003obb.2 - 6 1123 c.984C>T c.(982-984)AAC>AAT p.N328N NOTCH4_uc011dpu.1_RNA|NOTCH4_uc011dpv.1_RNA|NOTCH4_uc003obc.2_Silent_p.N328N NM_004557 NP_004548 Q99466 NOTC4_HUMAN notch4 preproprotein 328 EGF-like 8; calcium-binding (Potential).|Extracellular (Potential). cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm calcium ion binding|protein heterodimerization activity|receptor activity lung(8)|ovary(5)|breast(4)|central_nervous_system(3)|upper_aerodigestive_tract(1)|skin(1) 22 AGGTGCCCCCGTTTCTGCAGT 0.617 NA 44 141 0 0 0 0 HLA-DQA2 3118 broad.mit.edu 37 6 32713831 32713831 + Missense_Mutation SNP C C T TCGA-BA-5555-01A-01D-1512-08 TCGA-BA-5555-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 65dc1531-713b-41ba-a567-caa12340c0cf 7c55fb6b-c9eb-4d2c-bd12-52d94e821743 g.chr6:32713831C>T uc003obx.2 + 3 653 c.595C>T c.(595-597)CCT>TCT p.P199S NM_020056 NP_064440 P01906 DQA2_HUMAN major histocompatibility complex, class II, DQ 199 Alpha-2.|Extracellular (Potential).|Ig-like C1-type. antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway endoplasmic reticulum membrane|endosome membrane|Golgi apparatus|integral to plasma membrane|lysosomal membrane|MHC class II protein complex MHC class II receptor activity 0 Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) CCTGGACGAGCCTCTTCTGAA 0.488 NA 97 255 0 0 0 0 UHRF1BP1 54887 broad.mit.edu 37 6 34827076 34827076 + Silent SNP C C T TCGA-BA-5555-01A-01D-1512-08 TCGA-BA-5555-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 65dc1531-713b-41ba-a567-caa12340c0cf 7c55fb6b-c9eb-4d2c-bd12-52d94e821743 g.chr6:34827076C>T uc003oju.3 + 14 3177 c.2943C>T c.(2941-2943)AGC>AGT p.S981S UHRF1BP1_uc010jvm.1_RNA|UHRF1BP1_uc010jvn.2_RNA|UHRF1BP1_uc010jvo.2_RNA NM_017754 NP_060224 Q6BDS2 URFB1_HUMAN ICBP90 binding protein 1 981 ovary(3) 3 AGAAACTGAGCAGAACCCAAG 0.572 NA 65 86 0 0 0 0 DNAH8 1769 broad.mit.edu 37 6 38754589 38754589 + Missense_Mutation SNP T T C TCGA-BA-5555-01A-01D-1512-08 TCGA-BA-5555-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 65dc1531-713b-41ba-a567-caa12340c0cf 7c55fb6b-c9eb-4d2c-bd12-52d94e821743 g.chr6:38754589T>C uc003ooe.1 + 16 2393 c.1793T>C c.(1792-1794)CTG>CCG p.L598P NM_001371 NP_001362 dynein, axonemal, heavy polypeptide 8 skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1) 21 GGGAAGTTGCTGGTTAATTTC 0.363 NA 77 99 0 0 0 0 GPR111 222611 broad.mit.edu 37 6 47649207 47649207 + Missense_Mutation SNP A A C TCGA-BA-5555-01A-01D-1512-08 TCGA-BA-5555-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 65dc1531-713b-41ba-a567-caa12340c0cf 7c55fb6b-c9eb-4d2c-bd12-52d94e821743 g.chr6:47649207A>C uc010jzj.1 + 6 913 c.912A>C c.(910-912)AAA>AAC p.K304N GPR111_uc010jzk.1_Missense_Mutation_p.K236N|GPR111_uc003oyy.2_RNA NM_153839 NP_722581 Q8IZF7 GP111_HUMAN G-protein coupled receptor 111 304 Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity skin(1) 1 ACATTGGAAAAAATTTCACTT 0.398 NA 89 293 0 0 0 0 DEFB112 245915 broad.mit.edu 37 6 50016327 50016327 + Missense_Mutation SNP T T C TCGA-BA-5555-01A-01D-1512-08 TCGA-BA-5555-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 65dc1531-713b-41ba-a567-caa12340c0cf 7c55fb6b-c9eb-4d2c-bd12-52d94e821743 g.chr6:50016327T>C uc011dws.1 - 1 38 c.38A>G c.(37-39)GAA>GGA p.E13G NM_001037498 NP_001032587 Q30KQ8 DB112_HUMAN beta-defensin 112 precursor 13 defense response to bacterium extracellular region central_nervous_system(1) 1 Lung NSC(77;0.042) GTACATTTTTTCAAGTTTCAG 0.328 NA 120 121 0 0 0 0 ZNF451 26036 broad.mit.edu 37 6 57012576 57012576 + Nonsense_Mutation SNP G G T TCGA-BA-5555-01A-01D-1512-08 TCGA-BA-5555-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 65dc1531-713b-41ba-a567-caa12340c0cf 7c55fb6b-c9eb-4d2c-bd12-52d94e821743 g.chr6:57012576G>T uc003pdm.1 + 10 1917 c.1693G>T c.(1693-1695)GAG>TAG p.E565* ZNF451_uc003pdl.2_Nonsense_Mutation_p.E565*|ZNF451_uc003pdn.1_Nonsense_Mutation_p.E565*|uc003pdq.1_Intron|ZNF451_uc003pdk.1_Nonsense_Mutation_p.E565* NM_001031623 NP_001026794 Q9Y4E5 ZN451_HUMAN zinc finger protein 451 isoform 1 565 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding ovary(1)|pancreas(1) 2 Lung NSC(77;0.145) LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13) TGAGATGGATGAGGTAGAAGG 0.393 NA 119 313 4.07e-57 5.43e-57 1 0 MCHR2 84539 broad.mit.edu 37 6 100390920 100390920 + Silent SNP C C A TCGA-BA-5555-01A-01D-1512-08 TCGA-BA-5555-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 65dc1531-713b-41ba-a567-caa12340c0cf 7c55fb6b-c9eb-4d2c-bd12-52d94e821743 g.chr6:100390920C>A uc003pqh.1 - 4 807 c.492G>T c.(490-492)CTG>CTT p.L164L MCHR2_uc003pqi.1_Silent_p.L164L NM_001040179 NP_001035269 Q969V1 MCHR2_HUMAN melanin-concentrating hormone receptor 2 164 Helical; Name=4; (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity lung(3)|ovary(2)|breast(1)|central_nervous_system(1)|skin(1) 8 all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069) BRCA - Breast invasive adenocarcinoma(108;0.0429) CAGGCAATGCCAGGATAAAGG 0.478 NA 72 104 1.93e-29 2.46e-29 1 0 SDK1 221935 broad.mit.edu 37 7 4002400 4002400 + Missense_Mutation SNP G G A rs148101694 TCGA-BA-5555-01A-01D-1512-08 TCGA-BA-5555-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 65dc1531-713b-41ba-a567-caa12340c0cf 7c55fb6b-c9eb-4d2c-bd12-52d94e821743 g.chr7:4002400G>A uc003smx.2 + 9 1485 c.1346G>A c.(1345-1347)CGT>CAT p.R449H NM_152744 NP_689957 Q7Z5N4 SDK1_HUMAN sidekick 1 precursor 449 Ig-like C2-type 4. cell adhesion integral to membrane large_intestine(3)|ovary(2)|skin(1) 6 all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194) UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15) CAGAAGCTGCGTCCAGAGGAC 0.587 NA 21 33 0 0 0 0 PDE1C 5137 broad.mit.edu 37 7 32338306 32338306 + Nonsense_Mutation SNP G G T TCGA-BA-5555-01A-01D-1512-08 TCGA-BA-5555-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 65dc1531-713b-41ba-a567-caa12340c0cf 7c55fb6b-c9eb-4d2c-bd12-52d94e821743 g.chr7:32338306G>T uc003tco.1 - 1 636 c.42C>A c.(40-42)TGC>TGA p.C14* NM_005020 NP_005011 Q14123 PDE1C_HUMAN phosphodiesterase 1C Error:Variant_position_missing_in_Q14123_after_alignment activation of phospholipase C activity|nerve growth factor receptor signaling pathway cytosol calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding skin(3)|central_nervous_system(1) 4 GBM - Glioblastoma multiforme(11;0.216) TGGCGCTCCGGCATTTTTTGA 0.662 NA 7 16 0.00307968 0.00327088 1 0 PCLO 27445 broad.mit.edu 37 7 82580369 82580369 + Missense_Mutation SNP C C G TCGA-BA-5555-01A-01D-1512-08 TCGA-BA-5555-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 65dc1531-713b-41ba-a567-caa12340c0cf 7c55fb6b-c9eb-4d2c-bd12-52d94e821743 g.chr7:82580369C>G uc003uhx.2 - 6 9824 c.9535G>C c.(9535-9537)GAC>CAC p.D3179H PCLO_uc003uhv.2_Missense_Mutation_p.D3179H|PCLO_uc010lec.2_Missense_Mutation_p.D144H NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN piccolo isoform 1 3110 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity ovary(7) 7 GGAACAGAGTCTATCGTCTCA 0.423 NA 11 53 0 0 0 0 AKAP9 10142 broad.mit.edu 37 7 91729178 91729178 + Missense_Mutation SNP G G C TCGA-BA-5555-01A-01D-1512-08 TCGA-BA-5555-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 65dc1531-713b-41ba-a567-caa12340c0cf 7c55fb6b-c9eb-4d2c-bd12-52d94e821743 g.chr7:91729178G>C uc003ulg.2 + 44 11116 c.10891G>C c.(10891-10893)GAT>CAT p.D3631H AKAP9_uc003ulf.2_Missense_Mutation_p.D3623H|AKAP9_uc003uli.2_Missense_Mutation_p.D3254H|AKAP9_uc003ulj.2_Missense_Mutation_p.D1401H|AKAP9_uc003ull.2_Missense_Mutation_p.D527H NM_005751 NP_005742 Q99996 AKAP9_HUMAN A-kinase anchor protein 9 isoform 2 3635 Potential. G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport centrosome|cytosol|Golgi apparatus receptor binding breast(7)|ovary(6)|lung(5)|skin(3)|large_intestine(2)|prostate(2)|central_nervous_system(1) 26 all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) AGCTGGTAGAGATAATGTATG 0.378 NA T BRAF papillary thyroid 26 165 0 0 0 0 PPP1R9A 55607 broad.mit.edu 37 7 94879416 94879416 + Nonsense_Mutation SNP G G T TCGA-BA-5555-01A-01D-1512-08 TCGA-BA-5555-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 65dc1531-713b-41ba-a567-caa12340c0cf 7c55fb6b-c9eb-4d2c-bd12-52d94e821743 g.chr7:94879416G>T uc003unp.2 + 9 2461 c.2179G>T c.(2179-2181)GAA>TAA p.E727* PPP1R9A_uc010lfj.2_Nonsense_Mutation_p.E749*|PPP1R9A_uc011kif.1_Nonsense_Mutation_p.E727*|PPP1R9A_uc003unq.2_Nonsense_Mutation_p.E727*|PPP1R9A_uc011kig.1_Nonsense_Mutation_p.E727* NM_017650 NP_060120 Q9ULJ8 NEB1_HUMAN protein phosphatase 1, regulatory (inhibitor) 727 Interacts with TGN38 (By similarity).|Potential. cell junction|synapse|synaptosome actin binding ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1) 4 all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09) STAD - Stomach adenocarcinoma(171;0.0031) AGAGAATAAGGAAAGAATGTT 0.433 NA HNSCC(28;0.073) 19 41 8.28e-16 9.99e-16 1 0 TSGA14 95681 broad.mit.edu 37 7 130038842 130038842 + Nonsense_Mutation SNP T T A TCGA-BA-5555-01A-01D-1512-08 TCGA-BA-5555-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 65dc1531-713b-41ba-a567-caa12340c0cf 7c55fb6b-c9eb-4d2c-bd12-52d94e821743 g.chr7:130038842T>A uc003vpz.2 - 11 1059 c.1012A>T c.(1012-1014)AAG>TAG p.K338* TSGA14_uc003vpy.2_Nonsense_Mutation_p.K100*|TSGA14_uc010lmf.2_Nonsense_Mutation_p.K135*|TSGA14_uc003vqa.2_Nonsense_Mutation_p.K266*|TSGA14_uc011kpg.1_Nonsense_Mutation_p.K250* NM_018718 NP_061188 Q9BYV8 CEP41_HUMAN testis specific, 14 338 G2/M transition of mitotic cell cycle centrosome|cytosol 0 Melanoma(18;0.0435) CCAGGCACCTTGGACTCTCTT 0.592 NA 110 184 0 0 0 0 AKR1B10 57016 broad.mit.edu 37 7 134215455 134215455 + Missense_Mutation SNP A A C TCGA-BA-5555-01A-01D-1512-08 TCGA-BA-5555-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 65dc1531-713b-41ba-a567-caa12340c0cf 7c55fb6b-c9eb-4d2c-bd12-52d94e821743 g.chr7:134215455A>C uc003vrr.2 + 2 447 c.127A>C c.(127-129)ATT>CTT p.I43L NM_020299 NP_064695 O60218 AK1BA_HUMAN aldo-keto reductase family 1, member B10 43 cellular aldehyde metabolic process|digestion|steroid metabolic process cytoplasm aldo-keto reductase (NADP) activity|protein binding skin(5) 5 ATATCGGCACATTGACTGTGC 0.458 NA 27 133 0 0 0 0 TRPV6 55503 broad.mit.edu 37 7 142571344 142571344 + Missense_Mutation SNP C C A TCGA-BA-5555-01A-01D-1512-08 TCGA-BA-5555-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 65dc1531-713b-41ba-a567-caa12340c0cf 7c55fb6b-c9eb-4d2c-bd12-52d94e821743 g.chr7:142571344C>A uc003wbx.1 - 13 1861 c.1645G>T c.(1645-1647)GTG>TTG p.V549L TRPV6_uc003wbw.1_Missense_Mutation_p.V335L|TRPV6_uc010lou.1_Missense_Mutation_p.V420L NM_018646 NP_061116 Q9H1D0 TRPV6_HUMAN transient receptor potential cation channel, 549 regulation of calcium ion-dependent exocytosis integral to plasma membrane calcium channel activity|calmodulin binding ovary(2) 2 Melanoma(164;0.059) GGCAGGTCCACGTTGTAGTTG 0.562 NA 78 165 2.51e-31 3.23e-31 1 0 GIMAP4 55303 broad.mit.edu 37 7 150269705 150269705 + Missense_Mutation SNP G G T TCGA-BA-5555-01A-01D-1512-08 TCGA-BA-5555-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 65dc1531-713b-41ba-a567-caa12340c0cf 7c55fb6b-c9eb-4d2c-bd12-52d94e821743 g.chr7:150269705G>T uc003whl.2 + 3 629 c.547G>T c.(547-549)GGT>TGT p.G183C GIMAP4_uc011kuu.1_Missense_Mutation_p.G44C|GIMAP4_uc011kuv.1_Missense_Mutation_p.G197C NM_018326 NP_060796 Q9NUV9 GIMA4_HUMAN GTPase, IMAP family member 4 183 GTP binding ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(82;0.0179) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) GGACATTTTCGGTGACCGCTA 0.512 NA 21 151 1.28e-07 1.45e-07 1 0 EYA1 2138 broad.mit.edu 37 8 72229916 72229916 + Missense_Mutation SNP A A G TCGA-BA-5555-01A-01D-1512-08 TCGA-BA-5555-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 65dc1531-713b-41ba-a567-caa12340c0cf 7c55fb6b-c9eb-4d2c-bd12-52d94e821743 g.chr8:72229916A>G uc003xys.3 - 6 714 c.427T>C c.(427-429)TGG>CGG p.W143R EYA1_uc003xyr.3_Intron|EYA1_uc003xyt.3_Missense_Mutation_p.W110R|EYA1_uc010lzf.2_Missense_Mutation_p.W70R|EYA1_uc003xyu.2_Missense_Mutation_p.W143R|EYA1_uc011lfe.1_Intron|EYA1_uc003xyv.2_Intron NM_172058 NP_742055 Q99502 EYA1_HUMAN eyes absent 1 isoform b 143 double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent cytoplasm|nucleus metal ion binding|protein tyrosine phosphatase activity ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1) 5 Breast(64;0.046) Epithelial(68;0.0837)|all cancers(69;0.247) ATGCCTGCCCACAATGCACCT 0.428 NA 108 241 0 0 0 0 KCNB2 9312 broad.mit.edu 37 8 73480044 73480044 + Silent SNP G G T TCGA-BA-5555-01A-01D-1512-08 TCGA-BA-5555-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 65dc1531-713b-41ba-a567-caa12340c0cf 7c55fb6b-c9eb-4d2c-bd12-52d94e821743 g.chr8:73480044G>T uc003xzb.2 + 2 663 c.75G>T c.(73-75)GTG>GTT p.V25V NM_004770 NP_004761 Q92953 KCNB2_HUMAN potassium voltage-gated channel, Shab-related 25 Cytoplasmic (Potential). regulation of smooth muscle contraction voltage-gated potassium channel complex delayed rectifier potassium channel activity|protein binding skin(3)|large_intestine(1)|pancreas(1)|ovary(1)|central_nervous_system(1) 7 Breast(64;0.137) Epithelial(68;0.105) CAGAGCCTGTGGACATTATCC 0.547 NA 86 173 1.07e-49 1.42e-49 1 0 VPS13B 157680 broad.mit.edu 37 8 100829989 100829989 + Silent SNP G G T TCGA-BA-5555-01A-01D-1512-08 TCGA-BA-5555-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 65dc1531-713b-41ba-a567-caa12340c0cf 7c55fb6b-c9eb-4d2c-bd12-52d94e821743 g.chr8:100829989G>T uc003yiv.2 + 45 8505 c.8394G>T c.(8392-8394)GTG>GTT p.V2798V VPS13B_uc003yiw.2_Silent_p.V2773V NM_017890 NP_060360 Q7Z7G8 VP13B_HUMAN vacuolar protein sorting 13B isoform 5 2798 protein transport ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1) 20 Breast(36;3.73e-07) OV - Ovarian serous cystadenocarcinoma(57;0.00636) CAAGAGATGTGTGCCTGGAAT 0.418 NA 100 69 9.45e-43 1.24e-42 1 0 FER1L6 654463 broad.mit.edu 37 8 125076699 125076699 + Missense_Mutation SNP C C T TCGA-BA-5555-01A-01D-1512-08 TCGA-BA-5555-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 65dc1531-713b-41ba-a567-caa12340c0cf 7c55fb6b-c9eb-4d2c-bd12-52d94e821743 g.chr8:125076699C>T uc003yqw.2 + 26 3646 c.3440C>T c.(3439-3441)CCC>CTC p.P1147L uc003yqy.1_Intron NM_001039112 NP_001034201 Q2WGJ9 FR1L6_HUMAN fer-1-like 6 1147 Cytoplasmic (Potential). integral to membrane ovary(5)|skin(5)|central_nervous_system(1) 11 Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741) STAD - Stomach adenocarcinoma(47;0.00186) ACAGTGGTGCCCGACTCTGCC 0.607 NA 78 104 0 0 0 0 ASAP1 50807 broad.mit.edu 37 8 131249206 131249206 + Missense_Mutation SNP A A T TCGA-BA-5555-01A-01D-1512-08 TCGA-BA-5555-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 65dc1531-713b-41ba-a567-caa12340c0cf 7c55fb6b-c9eb-4d2c-bd12-52d94e821743 g.chr8:131249206A>T uc003yta.1 - 3 249 c.221T>A c.(220-222)GTG>GAG p.V74E ASAP1_uc011liw.1_Missense_Mutation_p.V67E NM_018482 NP_060952 Q9ULH1 ASAP1_HUMAN development and differentiation enhancing factor 74 cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction cytoplasm|membrane ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding ovary(4) 4 AGACTTCTTCACTTTCTGAAG 0.294 NA 37 79 0 0 0 0 TG 7038 broad.mit.edu 37 8 134042084 134042084 + Missense_Mutation SNP G G T TCGA-BA-5555-01A-01D-1512-08 TCGA-BA-5555-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 65dc1531-713b-41ba-a567-caa12340c0cf 7c55fb6b-c9eb-4d2c-bd12-52d94e821743 g.chr8:134042084G>T uc003ytw.2 + 41 7096 c.7055G>T c.(7054-7056)GGC>GTC p.G2352V TG_uc010mdw.2_Missense_Mutation_p.G1111V|TG_uc011ljb.1_Missense_Mutation_p.G721V|TG_uc011ljc.1_Missense_Mutation_p.G485V NM_003235 NP_003226 P01266 THYG_HUMAN thyroglobulin precursor 2352 hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation extracellular space hormone activity ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1) 15 Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735) BRCA - Breast invasive adenocarcinoma(115;0.000701) KIRC - Kidney renal clear cell carcinoma(542;0.0546) GAGGTGAGTGGCAACTGGGGG 0.572 NA 26 47 2.61e-14 3.14e-14 1 0 SCRIB 23513 broad.mit.edu 37 8 144893221 144893221 + Silent SNP C C T rs146561937 byFrequency TCGA-BA-5555-01A-01D-1512-08 TCGA-BA-5555-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 65dc1531-713b-41ba-a567-caa12340c0cf 7c55fb6b-c9eb-4d2c-bd12-52d94e821743 g.chr8:144893221C>T uc003yzp.1 - 11 1135 c.1128G>A c.(1126-1128)GCG>GCA p.A376A SCRIB_uc003yzo.1_Silent_p.A376A NM_015356 NP_056171 Q14160 SCRIB_HUMAN scribble isoform b 376 Sufficient for targeting to adherens junction and to inhibit cell proliferation.|LRR 15. activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction cell-cell adherens junction|Scrib-APC-beta-catenin complex protein binding urinary_tract(1)|ovary(1)|kidney(1)|central_nervous_system(1)|pancreas(1) 5 all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18) GGTGGGTGAGCGCGAACGGCA 0.687 NA 6 10 0 0 0 0 LINGO2 158038 broad.mit.edu 37 9 27950604 27950604 + Missense_Mutation SNP C C G TCGA-BA-5555-01A-01D-1512-08 TCGA-BA-5555-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 65dc1531-713b-41ba-a567-caa12340c0cf 7c55fb6b-c9eb-4d2c-bd12-52d94e821743 g.chr9:27950604C>G uc003zqu.1 - 2 260 c.66G>C c.(64-66)ATG>ATC p.M22I LINGO2_uc010mjf.1_Missense_Mutation_p.M22I|LINGO2_uc003zqv.1_Missense_Mutation_p.M22I NM_152570 NP_689783 Q7L985 LIGO2_HUMAN leucine rich repeat and Ig domain containing 2 22 integral to membrane upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1) 3 Melanoma(11;0.242) all_neural(11;2.78e-09) UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604) TGGTGGATCCCATGAAGATTA 0.542 NA 4 55 0 0 0 0 PAX5 5079 broad.mit.edu 37 9 37015148 37015148 + Missense_Mutation SNP A A G TCGA-BA-5555-01A-01D-1512-08 TCGA-BA-5555-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 65dc1531-713b-41ba-a567-caa12340c0cf 7c55fb6b-c9eb-4d2c-bd12-52d94e821743 g.chr9:37015148A>G uc003zzo.1 - 3 704 c.256T>C c.(256-258)TCC>CCC p.S86P PAX5_uc011lpw.1_Missense_Mutation_p.S86P|PAX5_uc011lpx.1_Intron|PAX5_uc011lpy.1_5'UTR|PAX5_uc010mls.1_Missense_Mutation_p.S86P|PAX5_uc011lpz.1_Missense_Mutation_p.S86P|PAX5_uc011lqa.1_5'UTR|PAX5_uc010mlq.1_RNA|PAX5_uc011lqb.1_RNA|PAX5_uc010mlo.1_Missense_Mutation_p.S86P|PAX5_uc010mlp.1_Missense_Mutation_p.S86P|PAX5_uc011lqc.1_Missense_Mutation_p.S86P|PAX5_uc010mlr.1_Missense_Mutation_p.S86P|PAX5_uc011lqd.1_Intron|PAX5_uc011lqe.1_RNA|PAX5_uc011lqf.1_Intron|PAX5_uc011lqg.1_RNA NM_016734 NP_057953 Q02548 PAX5_HUMAN paired box 5 86 Paired. cell differentiation|humoral immune response|nervous system development|organ morphogenesis|spermatogenesis|transcription from RNA polymerase II promoter nucleus DNA binding p.?(32) PAX5/JAK2(18) haematopoietic_and_lymphoid_tissue(142)|lung(3)|central_nervous_system(2) 147 all_cancers(2;3.46e-10)|Acute lymphoblastic leukemia(2;7.09e-56)|all_hematologic(2;6.65e-44) GBM - Glioblastoma multiforme(29;0.0108) TTTGGTTTGGATCCTCCAATT 0.483 NA T|Mis|D|F|S IGH@|ETV6|PML|FOXP1|ZNF521|ELN NHL|ALL|B-ALL 155 203 0 0 0 0 HSDL2 84263 broad.mit.edu 37 9 115216373 115216373 + Missense_Mutation SNP A A G TCGA-BA-5555-01A-01D-1512-08 TCGA-BA-5555-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 65dc1531-713b-41ba-a567-caa12340c0cf 7c55fb6b-c9eb-4d2c-bd12-52d94e821743 g.chr9:115216373A>G uc004bga.1 + 9 1039 c.946A>G c.(946-948)ATT>GTT p.I316V HSDL2_uc011lwv.1_Missense_Mutation_p.I195V|HSDL2_uc004bgb.1_Missense_Mutation_p.I150V|HSDL2_uc004bgc.1_Missense_Mutation_p.I243V|HSDL2_uc011lww.1_Missense_Mutation_p.I111V NM_032303 NP_115679 Q6YN16 HSDL2_HUMAN hydroxysteroid dehydrogenase like 2 316 SCP2. peroxisome oxidoreductase activity|sterol binding 0 AACATTTAGAATTGTTAAGGA 0.398 NA 81 159 0 0 0 0 NUP188 23511 broad.mit.edu 37 9 131743547 131743547 + Missense_Mutation SNP A A G TCGA-BA-5555-01A-01D-1512-08 TCGA-BA-5555-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 65dc1531-713b-41ba-a567-caa12340c0cf 7c55fb6b-c9eb-4d2c-bd12-52d94e821743 g.chr9:131743547A>G uc004bws.1 + 15 1416 c.1394A>G c.(1393-1395)TAT>TGT p.Y465C NM_015354 NP_056169 Q5SRE5 NU188_HUMAN nucleoporin 188kDa 465 carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction nuclear pore protein binding ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|kidney(1)|breast(1) 7 TGGCAGGTGTATAGCTTCTTG 0.423 NA 107 335 0 0 0 0 ARHGAP6 395 broad.mit.edu 37 X 11204464 11204464 + Missense_Mutation SNP C C A TCGA-BA-5555-01A-01D-1512-08 TCGA-BA-5555-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 65dc1531-713b-41ba-a567-caa12340c0cf 7c55fb6b-c9eb-4d2c-bd12-52d94e821743 g.chrX:11204464C>A uc004cup.1 - 5 2038 c.1165G>T c.(1165-1167)GCT>TCT p.A389S ARHGAP6_uc004cuo.1_RNA|ARHGAP6_uc004cur.1_Missense_Mutation_p.A389S|ARHGAP6_uc004cum.1_Missense_Mutation_p.A186S|ARHGAP6_uc004cun.1_Missense_Mutation_p.A209S|ARHGAP6_uc010neb.1_Missense_Mutation_p.A211S|ARHGAP6_uc011mif.1_Missense_Mutation_p.A186S NM_013427 NP_038286 O43182 RHG06_HUMAN Rho GTPase activating protein 6 isoform 1 389 actin filament polymerization|activation of phospholipase C activity|negative regulation of focal adhesion assembly|negative regulation of stress fiber assembly|Rho protein signal transduction actin filament|cytosol phospholipase activator activity|phospholipase binding|Rho GTPase activator activity|SH3 domain binding|SH3/SH2 adaptor activity urinary_tract(1)|lung(1) 2 TTACTTTGAGCCTCAGCAGGC 0.463 NA 163 103 9.35e-79 1.25e-78 1 0 IL1RAPL1 11141 broad.mit.edu 37 X 29972680 29972680 + Missense_Mutation SNP G G T TCGA-BA-5555-01A-01D-1512-08 TCGA-BA-5555-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 65dc1531-713b-41ba-a567-caa12340c0cf 7c55fb6b-c9eb-4d2c-bd12-52d94e821743 g.chrX:29972680G>T uc004dby.2 + 10 1751 c.1243G>T c.(1243-1245)GAT>TAT p.D415Y NM_014271 NP_055086 Q9NZN1 IRPL1_HUMAN interleukin 1 receptor accessory protein-like 1 415 Cytoplasmic (Potential).|TIR. innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development cytoplasm|integral to membrane|plasma membrane protein binding|transmembrane receptor activity ovary(3)|lung(1)|pancreas(1) 5 CACCAAAGTGGATCCTGACCA 0.358 NA 48 29 3.68e-26 4.63e-26 1 0 CXorf22 170063 broad.mit.edu 37 X 36007603 36007603 + Missense_Mutation SNP G G T TCGA-BA-5555-01A-01D-1512-08 TCGA-BA-5555-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 65dc1531-713b-41ba-a567-caa12340c0cf 7c55fb6b-c9eb-4d2c-bd12-52d94e821743 g.chrX:36007603G>T uc004ddj.2 + 16 2940 c.2881G>T c.(2881-2883)GGC>TGC p.G961C CXorf22_uc010ngv.2_RNA NM_152632 NP_689845 Q6ZTR5 CX022_HUMAN hypothetical protein LOC170063 961 large_intestine(1)|lung(1)|ovary(1) 3 TTGTTTTGAGGGCTATGAATT 0.328 NA 41 31 1.6e-28 2.03e-28 1 0 CAPZB 832 broad.mit.edu 37 1 19670883 19670884 + Frame_Shift_Ins INS - - A rs138529514 by1000genomes TCGA-BA-5555-01A-01D-1512-08 TCGA-BA-5555-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 65dc1531-713b-41ba-a567-caa12340c0cf 7c55fb6b-c9eb-4d2c-bd12-52d94e821743 g.chr1:19670883_19670884insA uc010ocz.1 - 8 1214_1215 c.786_787insT c.(784-789)TTTGGAfs p.F262fs CAPZB_uc001bce.2_Frame_Shift_Ins_p.F233fs|CAPZB_uc009vpk.2_Intron|CAPZB_uc001bcd.2_Frame_Shift_Ins_p.F221fs NM_004930 NP_004921 P47756 CAPZB_HUMAN F-actin capping protein beta subunit 233_234 actin cytoskeleton organization|actin filament capping|blood coagulation|cellular component movement cytosol|F-actin capping protein complex|WASH complex actin binding 0 Colorectal(325;3.93e-05)|Renal(390;0.000147)|all_lung(284;0.000169)|Lung NSC(340;0.000202)|Breast(348;0.000496)|Ovarian(437;0.00428)|Myeloproliferative disorder(586;0.0262) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Kidney(64;8.63e-06)|BRCA - Breast invasive adenocarcinoma(304;4.06e-05)|KIRC - Kidney renal clear cell carcinoma(64;0.000175)|GBM - Glioblastoma multiforme(114;0.000525)|STAD - Stomach adenocarcinoma(196;0.00779)|READ - Rectum adenocarcinoma(331;0.103)|Lung(427;0.173) TTTGTTTTTCCAAAGTAGATCT 0.327 NA OREG0013171 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 41 98 --- --- --- --- NA NA NA NA PFKP 5214 broad.mit.edu 37 10 3178723 3178724 + Frame_Shift_Ins INS - - A rs34180069 byFrequency TCGA-BA-5555-01A-01D-1512-08 TCGA-BA-5555-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 65dc1531-713b-41ba-a567-caa12340c0cf 7c55fb6b-c9eb-4d2c-bd12-52d94e821743 g.chr10:3178723_3178724insA uc001igp.2 + 22 2343_2344 c.2307_2308insA c.(2305-2310)GACGTGfs p.D769fs PFKP_uc001igq.2_Frame_Shift_Ins_p.D761fs|PFKP_uc009xhr.2_Frame_Shift_Ins_p.D731fs|PFKP_uc009xht.2_Frame_Shift_Ins_p.D507fs|PFKP_uc009xhu.2_Frame_Shift_Ins_p.D275fs NM_002627 NP_002618 Q01813 K6PP_HUMAN phosphofructokinase, platelet 769_770 glycolysis 6-phosphofructokinase complex 6-phosphofructokinase activity|ATP binding|metal ion binding|protein binding upper_aerodigestive_tract(1)|ovary(1)|lung(1) 3 GBM - Glioblastoma multiforme(1;0.000975)|all cancers(11;0.00351)|Epithelial(11;0.142) CCAGCTATGACGTGTCGGACTC 0.564 NA 15 35 --- --- --- --- NA NA NA NA UHRF1BP1L 23074 broad.mit.edu 37 12 100502306 100502319 + Frame_Shift_Del DEL GGAGATAAATTTTT GGAGATAAATTTTT - TCGA-BA-5555-01A-01D-1512-08 TCGA-BA-5555-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 65dc1531-713b-41ba-a567-caa12340c0cf 7c55fb6b-c9eb-4d2c-bd12-52d94e821743 g.chr12:100502306_100502319delGGAGATAAATTTTT uc001tgq.2 - 2 281_294 c.52_65delAAAAATTTATCTCC c.(52-66)AAAAATTTATCTCCTfs p.K18fs UHRF1BP1L_uc001tgr.2_Frame_Shift_Del_p.K18fs NM_015054 NP_055869 A0JNW5 UH1BL_HUMAN UHRF1 (ICBP90) binding protein 1-like isoform a 18_22 ovary(2) 2 TATCTTGTCAGGAGATAAATTTTTGGTAAATCTG 0.313 NA 30 88 --- --- --- --- NA NA NA NA ADAM33 80332 broad.mit.edu 37 20 3655704 3655704 + Frame_Shift_Del DEL C C - TCGA-BA-5555-01A-01D-1512-08 TCGA-BA-5555-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 65dc1531-713b-41ba-a567-caa12340c0cf 7c55fb6b-c9eb-4d2c-bd12-52d94e821743 g.chr20:3655704delC uc002wit.2 - 4 390 c.303delG c.(301-303)GGGfs p.G101fs ADAM33_uc002wir.1_Frame_Shift_Del_p.G101fs|ADAM33_uc002wis.2_5'Flank|ADAM33_uc002wiu.2_Frame_Shift_Del_p.G101fs|ADAM33_uc002wiw.1_RNA|ADAM33_uc010gba.1_Intron|ADAM33_uc010gbb.1_Intron|ADAM33_uc002wix.1_Frame_Shift_Del_p.G100fs|ADAM33_uc010zqg.1_Frame_Shift_Del_p.G100fs|ADAM33_uc010zqh.1_Frame_Shift_Del_p.G101fs NM_025220 NP_079496 Q9BZ11 ADA33_HUMAN ADAM metallopeptidase domain 33 isoform alpha 101 Extracellular (Potential). proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding large_intestine(2)|ovary(1)|skin(1) 4 CCACTGGCTGCCCATCTGGGC 0.612 NA 14 18 --- --- --- --- NA NA NA NA BID 637 broad.mit.edu 37 22 18222188 18222189 + Frame_Shift_Ins INS - - T TCGA-BA-5555-01A-01D-1512-08 TCGA-BA-5555-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 65dc1531-713b-41ba-a567-caa12340c0cf 7c55fb6b-c9eb-4d2c-bd12-52d94e821743 g.chr22:18222188_18222189insT uc002znd.1 - 4 459_460 c.289_290insA c.(289-291)ATGfs p.M97fs BID_uc002znc.1_Frame_Shift_Ins_p.M143fs|BID_uc002zne.1_Frame_Shift_Ins_p.M1fs|BID_uc010gra.1_RNA|BID_uc002znf.1_Frame_Shift_Ins_p.M1fs|BID_uc010grb.1_Frame_Shift_Ins_p.M97fs|BID_uc010grc.1_Frame_Shift_Ins_p.M1fs NM_001196 NP_001187 P55957 BID_HUMAN BH3 interacting domain death agonist isoform 2 97 BH3. activation of pro-apoptotic gene products|establishment of protein localization in membrane|induction of apoptosis by intracellular signals|induction of apoptosis via death domain receptors|neuron apoptosis|positive regulation of protein homooligomerization|positive regulation of release of cytochrome c from mitochondria|release of cytochrome c from mitochondria cytosol|membrane fraction|mitochondrial outer membrane death receptor binding 0 all_epithelial(15;0.198) Lung(27;0.0419) GCTACGGTCCATGCTGTCCCCG 0.629 NA 23 56 --- --- --- --- NA NA NA NA OTOP1 133060 broad.mit.edu 37 4 4204225 4204229 + Frame_Shift_Del DEL TTGAG TTGAG - TCGA-BA-5555-01A-01D-1512-08 TCGA-BA-5555-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 65dc1531-713b-41ba-a567-caa12340c0cf 7c55fb6b-c9eb-4d2c-bd12-52d94e821743 g.chr4:4204225_4204229delTTGAG uc003ghp.1 - 4 706_710 c.676_680delCTCAA c.(676-681)CTCAATfs p.L226fs NM_177998 NP_819056 Q7RTM1 OTOP1_HUMAN otopetrin 1 226_227 biomineral tissue development extracellular space|integral to membrane ovary(2)|central_nervous_system(1) 3 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) CTTGTGCTCATTGAGTTGGTGCTTT 0.502 NA 8 202 --- --- --- --- NA NA NA NA CUL9 23113 broad.mit.edu 37 6 43153942 43153943 + Frame_Shift_Ins INS - - C TCGA-BA-5555-01A-01D-1512-08 TCGA-BA-5555-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 65dc1531-713b-41ba-a567-caa12340c0cf 7c55fb6b-c9eb-4d2c-bd12-52d94e821743 g.chr6:43153942_43153943insC uc003ouk.2 + 4 1075_1076 c.1000_1001insC c.(1000-1002)ACCfs p.T334fs CUL9_uc003ouj.1_Frame_Shift_Ins_p.T334fs|CUL9_uc003oul.2_Frame_Shift_Ins_p.T334fs|CUL9_uc010jyk.2_5'UTR|CUL9_uc003oum.1_5'Flank NM_015089 NP_055904 Q8IWT3 CUL9_HUMAN p53-associated parkin-like cytoplasmic protein 334 ubiquitin-dependent protein catabolic process cullin-RING ubiquitin ligase complex|cytoplasm ATP binding|ubiquitin protein ligase binding|zinc ion binding ovary(5)|lung(3)|skin(2)|breast(1)|central_nervous_system(1) 12 TCCCCGGCCAACCCGGTCCATC 0.614 NA 50 243 --- --- --- --- NA NA NA NA