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 ACHILLES_Top_Genes 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 pox_cutoff isArtifactMode oxoGCut UBE4B 10277 broad.mit.edu 37 1 10165755 10165755 + Missense_Mutation SNP C C G TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr1:10165755C>G uc001aqs.3 + 6 1475 c.762C>G c.(760-762)AGC>AGG p.S254R UBE4B_uc001aqr.3_Missense_Mutation_p.S254R|UBE4B_uc010oai.1_RNA|UBE4B_uc010oaj.1_5'UTR NM_001105562 NP_001099032 O95155 UBE4B_HUMAN ubiquitination factor E4B isoform 1 254 apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV cytoplasm|ubiquitin ligase complex enzyme binding ovary(2)|skin(2) 4 all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046) CAGGAACAAGCCCCATGTTCT 0.488 NA 9 40 0 0 0.006214 0 0 UBE4B 10277 broad.mit.edu 37 1 10165759 10165759 + Missense_Mutation SNP A A G TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr1:10165759A>G uc001aqs.3 + 6 1479 c.766A>G c.(766-768)ATG>GTG p.M256V UBE4B_uc001aqr.3_Missense_Mutation_p.M256V|UBE4B_uc010oai.1_RNA|UBE4B_uc010oaj.1_5'UTR NM_001105562 NP_001099032 O95155 UBE4B_HUMAN ubiquitination factor E4B isoform 1 256 apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV cytoplasm|ubiquitin ligase complex enzyme binding ovary(2)|skin(2) 4 all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046) AACAAGCCCCATGTTCTGCAG 0.493 NA 9 39 0 0 0.006214 0 0 C1orf127 148345 broad.mit.edu 37 1 11007869 11007869 + Missense_Mutation SNP C C A TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr1:11007869C>A uc010oao.1 - 8 1881 c.1876G>T c.(1876-1878)GTG>TTG p.V626L C1orf127_uc001arr.1_Missense_Mutation_p.V608L|C1orf127_uc001ars.1_Missense_Mutation_p.V600L NM_173507 NP_775778 B7ZLG7 B7ZLG7_HUMAN hypothetical protein LOC148345 626 ovary(1) 1 Ovarian(185;0.249) Lung NSC(185;0.000226)|all_lung(284;0.000302)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731) STAD - Stomach adenocarcinoma(5;0.0224) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.71e-07)|COAD - Colon adenocarcinoma(227;7.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000305)|Kidney(185;0.000785)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|READ - Rectum adenocarcinoma(331;0.0509) TCAAGCTCCACCAGGCTGGGT 0.652 NA 4 16 0.00909568 0.00938674 0.009096 1 0 PTCHD2 57540 broad.mit.edu 37 1 11577656 11577656 + Missense_Mutation SNP C C A TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr1:11577656C>A uc001ash.3 + 7 2024 c.1886C>A c.(1885-1887)ACC>AAC p.T629N PTCHD2_uc001asi.1_Missense_Mutation_p.T629N NM_020780 NP_065831 Q9P2K9 PTHD2_HUMAN patched domain containing 2 629 Cytoplasmic (Potential). cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway endoplasmic reticulum|integral to membrane|nuclear membrane hedgehog receptor activity skin(3)|ovary(2)|pancreas(1)|breast(1) 7 Ovarian(185;0.249) Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549) TCCTGCCAGACCAGGTAAGTC 0.597 NA 11 24 4.3838e-07 5.24836e-07 0.001855 1 0 LOC649330 649330 broad.mit.edu 37 1 12907748 12907748 + Missense_Mutation SNP G G T TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr1:12907748G>T uc009vno.2 - 1 490 c.395C>A c.(394-396)CCT>CAT p.P132H HNRNPCL1_uc010obf.1_Missense_Mutation_p.P132H NM_001146181 NP_001139653 B7ZW38 B7ZW38_HUMAN heterogeneous nuclear ribonucleoprotein C-like 132 nucleic acid binding|nucleotide binding 0 GGGAGGAGGAGGAGGTACACG 0.498 NA 29 50 3.73988e-18 6.06849e-18 0.00632 1 0 PADI1 29943 broad.mit.edu 37 1 17556647 17556647 + Missense_Mutation SNP A A G TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr1:17556647A>G uc001bah.1 + 9 1089 c.997A>G c.(997-999)AAC>GAC p.N333D NM_013358 NP_037490 Q9ULC6 PADI1_HUMAN peptidylarginine deiminase type I 333 peptidyl-citrulline biosynthetic process from peptidyl-arginine cytoplasm calcium ion binding|protein-arginine deiminase activity 0 Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00522)|BRCA - Breast invasive adenocarcinoma(304;1.3e-05)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(196;0.0069)|READ - Rectum adenocarcinoma(331;0.0681)|Lung(427;0.197) L-Citrulline(DB00155) ATTGAAAGCCAACTGCAAGCT 0.527 Esophageal Squamous(80;414 1257 4580 27746 50832) NA 15 58 0 0 0.004007 0 0 ARID1A 8289 broad.mit.edu 37 1 27097658 27097658 + Missense_Mutation SNP G G T TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr1:27097658G>T uc001bmv.1 + 12 3620 c.3247G>T c.(3247-3249)GGC>TGC p.G1083C ARID1A_uc001bmt.1_Missense_Mutation_p.G1083C|ARID1A_uc001bmu.1_Missense_Mutation_p.G1083C|ARID1A_uc001bmw.1_Missense_Mutation_p.G700C|ARID1A_uc001bmx.1_5'UTR|ARID1A_uc009vsm.1_5'Flank NM_006015 NP_006006 O14497 ARI1A_HUMAN AT rich interactive domain 1A isoform a 1083 ARID. androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent nBAF complex|npBAF complex|SWI/SNF complex DNA binding|protein binding ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1) 142 all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242) CCTCAATGTGGGCACATCAAG 0.483 NA Mis|N|F|S|D clear cell ovarian carcinoma|RCC 13 24 4.7546e-09 6.13344e-09 0.004007 1 0 GMEB1 10691 broad.mit.edu 37 1 29030811 29030811 + Missense_Mutation SNP C C T TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr1:29030811C>T uc001bra.2 + 8 1006 c.868C>T c.(868-870)CGG>TGG p.R290W GMEB1_uc001bqz.2_Missense_Mutation_p.R280W|GMEB1_uc001brb.2_Missense_Mutation_p.R280W NM_006582 NP_006573 Q9Y692 GMEB1_HUMAN glucocorticoid modulatory element binding 290 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|metal ion binding|transcription coactivator activity 0 Colorectal(325;3.46e-05)|Lung NSC(340;0.000451)|all_lung(284;0.00063)|Breast(348;0.00502)|Renal(390;0.00555)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123) Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649) AGTTCAGCAGCGGCTCATCCA 0.448 NA 3 50 0 0 0.009096 0 0 C1orf94 84970 broad.mit.edu 37 1 34663274 34663274 + Missense_Mutation SNP A A G TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr1:34663274A>G uc001bxs.3 + 2 598 c.199A>G c.(199-201)AAG>GAG p.K67E C1orf94_uc001bxt.2_Missense_Mutation_p.K257E NM_032884 NP_116273 Q6P1W5 CA094_HUMAN hypothetical protein LOC84970 isoform b 67 protein binding 0 Myeloproliferative disorder(586;0.0393) CCCTGACAACAAGAATGTGCT 0.557 NA 12 28 0 0 0.00245 0 0 SCMH1 22955 broad.mit.edu 37 1 41536268 41536268 + Silent SNP T T A TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr1:41536268T>A uc001cgo.2 - 10 1385 c.1074A>T c.(1072-1074)ACA>ACT p.T358T SCMH1_uc010ojr.1_Silent_p.T200T|SCMH1_uc001cgp.2_Silent_p.T297T|SCMH1_uc001cgr.2_Silent_p.T297T|SCMH1_uc001cgs.2_Silent_p.T368T|SCMH1_uc001cgt.2_Silent_p.T297T|SCMH1_uc001cgq.2_Silent_p.T311T|SCMH1_uc010ojs.1_RNA NM_001031694 NP_001026864 Q96GD3 SCMH1_HUMAN sex comb on midleg 1 isoform 1 358 anatomical structure morphogenesis|gene silencing|multicellular organismal development|negative regulation of transcription, DNA-dependent DNA binding|sequence-specific DNA binding transcription factor activity 0 Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)|Breast(333;0.162) Myeloproliferative disorder(586;0.0393) TGCTCTTACCTGTTGGGGCCT 0.537 NA 24 68 0 0 0.008361 0 0 C1orf163 65260 broad.mit.edu 37 1 53153487 53153487 + Missense_Mutation SNP C C T TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr1:53153487C>T uc001cui.1 - 3 641 c.601G>A c.(601-603)GAT>AAT p.D201N NM_023077 NP_075565 Q96BR5 SELR1_HUMAN hypothetical protein LOC65260 201 Sel1-like 5. binding 0 TCATCCTTATCAACACCATCC 0.507 NA 10 63 0 0 0.008291 0 0 SSBP3 23648 broad.mit.edu 37 1 54708962 54708962 + Missense_Mutation SNP C C G TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr1:54708962C>G uc001cxe.2 - 10 960 c.662G>C c.(661-663)AGC>ACC p.S221T SSBP3_uc001cxf.2_Missense_Mutation_p.S201T|SSBP3_uc001cxg.2_Missense_Mutation_p.S194T NM_145716 NP_663768 Q9BWW4 SSBP3_HUMAN single stranded DNA binding protein 3 isoform a 221 Gly-rich.|Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus single-stranded DNA binding 0 TCTCATGCCGCTGCCGTAATT 0.423 NA 97 207 0 0 0.01441 0 0 C8A 731 broad.mit.edu 37 1 57383331 57383331 + Missense_Mutation SNP C C T TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr1:57383331C>T uc001cyo.2 + 11 1829 c.1697C>T c.(1696-1698)GCA>GTA p.A566V NM_000562 NP_000553 P07357 CO8A_HUMAN complement component 8, alpha polypeptide 566 TSP type-1 2. complement activation, alternative pathway|complement activation, classical pathway|cytolysis extracellular space|membrane attack complex ovary(1)|central_nervous_system(1)|skin(1) 3 GACAATCCAGCACCTCAGAAT 0.582 NA 13 31 0 0 0.00499 0 0 LRRC7 57554 broad.mit.edu 37 1 70509696 70509696 + Silent SNP A A T TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr1:70509696A>T uc001dep.2 + 20 3945 c.3915A>T c.(3913-3915)TCA>TCT p.S1305S LRRC7_uc009wbg.2_Silent_p.S589S|LRRC7_uc001deq.2_Intron NM_020794 NP_065845 Q96NW7 LRRC7_HUMAN leucine rich repeat containing 7 1305 centrosome|focal adhesion|nucleolus protein binding ovary(9)|breast(2)|central_nervous_system(2)|liver(1) 14 GAGGTATTTCAGCAATGCATG 0.408 NA 18 56 0 0 0.007413 0 0 ELTD1 64123 broad.mit.edu 37 1 79357340 79357340 + Missense_Mutation SNP G G C TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr1:79357340G>C uc001diq.3 - 14 2035 c.1879C>G c.(1879-1881)CTC>GTC p.L627V NM_022159 NP_071442 Q9HBW9 ELTD1_HUMAN EGF, latrophilin and seven transmembrane domain 627 Helical; Name=6; (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity ovary(1)|skin(1) 2 COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148) GTGGTGCCGAGAAGGAACAGA 0.473 NA 8 38 0 0 0.00308 0 0 ABCA4 24 broad.mit.edu 37 1 94574223 94574223 + Missense_Mutation SNP C C T TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr1:94574223C>T uc001dqh.2 - 4 456 c.352G>A c.(352-354)GAG>AAG p.E118K ABCA4_uc010otn.1_Missense_Mutation_p.E118K NM_000350 NP_000341 P78363 ABCA4_HUMAN ATP-binding cassette, sub-family A member 4 118 Extracellular. phototransduction, visible light|visual perception integral to plasma membrane|membrane fraction ATP binding|ATPase activity, coupled to transmembrane movement of substances ovary(4)|skin(4)|central_nervous_system(2)|upper_aerodigestive_tract(1)|breast(1) 12 all_lung(203;0.000757)|Lung NSC(277;0.00335) all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171) TGCTGGCTCTCTGGTGCATTC 0.448 NA 14 42 0 0 0.003163 0 0 AGL 178 broad.mit.edu 37 1 100316648 100316648 + Missense_Mutation SNP A A T TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr1:100316648A>T uc001dsi.1 + 2 450 c.50A>T c.(49-51)AAA>ATA p.K17I AGL_uc001dsj.1_Missense_Mutation_p.K17I|AGL_uc001dsk.1_Missense_Mutation_p.K17I|AGL_uc001dsl.1_Missense_Mutation_p.K17I|AGL_uc001dsm.1_5'UTR NM_000642 NP_000633 P35573 GDE_HUMAN amylo-1,6-glucosidase, 17 4-alpha-glucanotransferase. glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process cytosol|isoamylase complex|nucleus 4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding ovary(1)|central_nervous_system(1)|skin(1) 3 all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131) Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237) GAAATGGAGAAACTGGAAAAG 0.358 NA 32 52 0 0 0.006999 0 0 SYPL2 284612 broad.mit.edu 37 1 110022152 110022152 + Silent SNP A A T TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr1:110022152A>T uc001dxp.2 + 6 1167 c.801A>T c.(799-801)GGA>GGT p.G267G SYPL2_uc010ovk.1_Silent_p.G203G NM_001040709 NP_001035799 Q5VXT5 SYPL2_HUMAN mitsugumin 29 267 Cytoplasmic (Potential). integral to membrane|synaptic vesicle transporter activity ovary(1) 1 all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244) Colorectal(144;0.0129)|Lung(183;0.0436)|READ - Rectum adenocarcinoma(129;0.0698)|Epithelial(280;0.0808)|all cancers(265;0.0869)|LUSC - Lung squamous cell carcinoma(189;0.231) CTGAGCAGGGAGCAGTGGAGA 0.468 NA 15 55 0 0 0.007413 0 0 VANGL1 81839 broad.mit.edu 37 1 116202368 116202368 + Missense_Mutation SNP G G A TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr1:116202368G>A uc001efv.1 + 3 449 c.178G>A c.(178-180)GAT>AAT p.D60N VANGL1_uc009wgy.1_Missense_Mutation_p.D60N|VANGL1_uc001efw.1_Missense_Mutation_p.D60N NM_138959 NP_620409 Q8TAA9 VANG1_HUMAN vang-like 1 60 Cytoplasmic (Potential). multicellular organismal development integral to membrane protein binding central_nervous_system(1) 1 Lung SC(450;0.211) all_cancers(81;1.24e-06)|all_epithelial(167;1.02e-06)|all_lung(203;7.95e-06)|Lung NSC(69;4.97e-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) GTTGGGAAATGATTCTACTCG 0.488 NA 10 72 0 0 0.010729 0 0 HRNR 388697 broad.mit.edu 37 1 152187691 152187691 + Silent SNP A A T TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr1:152187691A>T uc001ezt.1 - 3 6490 c.6414T>A c.(6412-6414)TCT>TCA p.S2138S NM_001009931 NP_001009931 Q86YZ3 HORN_HUMAN hornerin 2138 keratinization calcium ion binding|protein binding skin(2)|ovary(1) 3 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GTCCTGATCTAGAGCCGTGTT 0.577 NA 18 577 0 0 0.005443 0 0 FLG 2312 broad.mit.edu 37 1 152285383 152285383 + Missense_Mutation SNP G G C TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr1:152285383G>C uc001ezu.1 - 3 2015 c.1979C>G c.(1978-1980)CCC>CGC p.P660R uc001ezv.2_5'Flank NM_002016 NP_002007 P20930 FILA_HUMAN filaggrin 660 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity ovary(9)|skin(4)|upper_aerodigestive_tract(3) 16 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) ATGGGACCTGGGGTGTCTGGA 0.542 NA Ichthyosis 77 318 0 0 0.01441 0 0 LCE2D 353141 broad.mit.edu 37 1 152636846 152636846 + Missense_Mutation SNP C C A TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr1:152636846C>A uc001fag.2 + 2 320 c.265C>A c.(265-267)CCC>ACC p.P89T NM_178430 NP_848517 Q5TA82 LCE2D_HUMAN late cornified envelope 2D 89 Cys-rich. keratinization 0 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) GCACCAGAGCCCCGATTGCTG 0.667 NA 34 109 3.93418e-24 6.74431e-24 0.004289 1 0 ASH1L 55870 broad.mit.edu 37 1 155408305 155408305 + Nonsense_Mutation SNP C C A TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr1:155408305C>A uc009wqq.2 - 5 6121 c.5641G>T c.(5641-5643)GAG>TAG p.E1881* ASH1L_uc001fkt.2_Nonsense_Mutation_p.E1881* NM_018489 NP_060959 Q9NR48 ASH1L_HUMAN absent, small, or homeotic 1-like 1881 cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter chromosome|Golgi apparatus|nucleus|tight junction DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding skin(5)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)|pancreas(1) 11 Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145) Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021) GCTCCTTCCTCGTCTCTGTTC 0.488 NA 41 40 8.69298e-16 1.35108e-15 0.006999 1 0 CD1E 913 broad.mit.edu 37 1 158325805 158325805 + Missense_Mutation SNP A A T TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr1:158325805A>T uc001fse.2 + 4 1053 c.814A>T c.(814-816)ACC>TCC p.T272S CD1E_uc010pid.1_Missense_Mutation_p.T270S|CD1E_uc010pie.1_Missense_Mutation_p.T173S|CD1E_uc010pif.1_Missense_Mutation_p.T83S|CD1E_uc001fsd.2_Intron|CD1E_uc001fsk.2_Missense_Mutation_p.T182S|CD1E_uc001fsj.2_Intron|CD1E_uc001fsc.2_Missense_Mutation_p.T83S|CD1E_uc010pig.1_Intron|CD1E_uc001fsa.2_Intron|CD1E_uc001fsf.2_Missense_Mutation_p.T272S|CD1E_uc001fry.2_Intron|CD1E_uc001fsg.2_Intron|CD1E_uc001fsh.2_Missense_Mutation_p.T83S|CD1E_uc001fsi.2_Intron|CD1E_uc009wsv.2_Missense_Mutation_p.T173S|CD1E_uc001frz.2_Missense_Mutation_p.T182S|CD1E_uc009wsw.2_Missense_Mutation_p.T30S NM_030893 NP_112155 P15812 CD1E_HUMAN CD1E antigen isoform a precursor 272 Ig-like. antigen processing and presentation|immune response early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen skin(3) 3 all_hematologic(112;0.0378) TCTCCGAGCAACCCTGGATGT 0.612 NA 34 155 0 0 0.006999 0 0 OR6Y1 391112 broad.mit.edu 37 1 158517795 158517795 + Missense_Mutation SNP G G T TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr1:158517795G>T uc010pil.1 - 1 101 c.101C>A c.(100-102)TCC>TAC p.S34Y NM_001005189 NP_001005189 Q8NGX8 OR6Y1_HUMAN olfactory receptor, family 6, subfamily Y, 34 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 all_hematologic(112;0.0378) CAGGAAAATGGAGAAAAAGAG 0.443 NA 9 25 5.4927e-09 7.06792e-09 0.004482 1 0 DARC 2532 broad.mit.edu 37 1 159176075 159176075 + Silent SNP G G T TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr1:159176075G>T uc001fto.2 + 2 1086 c.846G>T c.(844-846)CTG>CTT p.L282L DARC_uc001ftp.3_Silent_p.L284L NM_002036 NP_002027 Q16570 DUFFY_HUMAN Duffy blood group antigen isoform b 282 Extracellular (Potential). defense response integral to membrane|plasma membrane C-C chemokine binding|chemokine receptor activity ovary(1)|lung(1) 2 all_hematologic(112;0.0429) AGCAGGCTCTGGACCTGCTGC 0.582 NA 119 128 4.38445e-86 7.93816e-86 0.01441 1 0 TADA1 117143 broad.mit.edu 37 1 166839015 166839015 + Missense_Mutation SNP G G A TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr1:166839015G>A uc001gdw.2 - 2 335 c.151C>T c.(151-153)CTC>TTC p.L51F TADA1_uc009wve.2_Missense_Mutation_p.L51F NM_053053 NP_444281 Q96BN2 TADA1_HUMAN transcriptional adaptor 1-like 51 histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent STAGA complex transcription coactivator activity ovary(1) 1 TCCTGTGTGAGAAGTCTATGA 0.353 NA 6 99 0 0 0.001168 0 0 FASLG 356 broad.mit.edu 37 1 172628584 172628584 + Silent SNP G G T TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr1:172628584G>T uc001gis.2 + 1 400 c.243G>T c.(241-243)CTG>CTT p.L81L FASLG_uc001git.2_Silent_p.L81L NM_000639 NP_000630 P48023 TNFL6_HUMAN fas ligand 81 Helical; Signal-anchor for type II membrane protein; (Potential). activation of caspase activity|activation of pro-apoptotic gene products|cell-cell signaling|immune response|induction of necroptosis by extracellular signals|induction of necroptosis of activated-T cells|necrotic cell death|negative regulation of angiogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|signal transduction extracellular space|integral to plasma membrane cytokine activity lung(2)|breast(1) 3 GCACAGGCCTGTGTCTCCTTG 0.353 Ovarian(28;486 876 30334 44033) NA 19 16 2.27525e-19 3.7509e-19 0.003954 1 0 TNR 7143 broad.mit.edu 37 1 175372661 175372661 + Missense_Mutation SNP C C A TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr1:175372661C>A uc001gkp.1 - 2 672 c.591G>T c.(589-591)AAG>AAT p.K197N TNR_uc009wwu.1_Missense_Mutation_p.K197N|TNR_uc010pmz.1_Missense_Mutation_p.K197N NM_003285 NP_003276 Q92752 TENR_HUMAN tenascin R precursor 197 EGF-like 1.|Cys-rich. axon guidance|cell adhesion|signal transduction proteinaceous extracellular matrix pancreas(5)|ovary(4)|central_nervous_system(1)|skin(1) 11 Renal(580;0.146) CCGAGCAATTCTTGCCAAACC 0.577 NA 58 177 3.7469e-33 6.64399e-33 0.01441 1 0 PAPPA2 60676 broad.mit.edu 37 1 176640158 176640158 + Missense_Mutation SNP C C T TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr1:176640158C>T uc001gkz.2 + 4 3208 c.2044C>T c.(2044-2046)CAC>TAC p.H682Y PAPPA2_uc001gky.1_Missense_Mutation_p.H682Y|PAPPA2_uc009www.2_RNA NM_020318 NP_064714 Q9BXP8 PAPP2_HUMAN pappalysin 2 isoform 1 682 Metalloprotease. cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1) 16 GAACAGTACTCACTTCCTCAA 0.517 NA 14 185 0 0 0.004007 0 0 PAPPA2 60676 broad.mit.edu 37 1 176708897 176708897 + Nonsense_Mutation SNP G G T TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr1:176708897G>T uc001gkz.2 + 13 5098 c.3934G>T c.(3934-3936)GGA>TGA p.G1312* PAPPA2_uc009www.2_RNA NM_020318 NP_064714 Q9BXP8 PAPP2_HUMAN pappalysin 2 isoform 1 1312 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 CCACTCTCTTGGTGAGTCTGA 0.483 NA 9 32 2.27111e-07 2.73807e-07 0.013537 1 0 LAMC1 3915 broad.mit.edu 37 1 183079686 183079686 + Missense_Mutation SNP T T A TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr1:183079686T>A uc001gpy.3 + 4 1175 c.918T>A c.(916-918)AAT>AAA p.N306K NM_002293 NP_002284 P11047 LAMC1_HUMAN laminin, gamma 1 precursor 306 Laminin EGF-like 1. axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex extracellular matrix structural constituent ovary(3)|large_intestine(1)|kidney(1) 5 Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) TGGTGTGTAATTGCAAACATA 0.448 NA 69 106 0 0 0.01441 0 0 FAM129A 116496 broad.mit.edu 37 1 184777292 184777292 + Silent SNP G G A rs147120611 byFrequency TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr1:184777292G>A uc001gra.2 - 10 1445 c.1251C>T c.(1249-1251)CAC>CAT p.H417H FAM129A_uc001grb.1_Silent_p.H180H|FAM129A_uc009wyh.1_Silent_p.H245H|FAM129A_uc009wyi.1_Silent_p.H215H NM_052966 NP_443198 Q9BZQ8 NIBAN_HUMAN niban protein isoform 2 417 negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress cytoplasm|nucleus|plasma membrane ovary(3)|skin(1) 4 GCAGGCGCTCGTGAAGCAGGT 0.512 NA 4 114 0 0 0.009096 0 0 HMCN1 83872 broad.mit.edu 37 1 185815174 185815174 + Silent SNP A A T TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr1:185815174A>T uc001grq.1 + 2 514 c.285A>T c.(283-285)ACA>ACT p.T95T NM_031935 NP_114141 Q96RW7 HMCN1_HUMAN hemicentin 1 precursor 95 VWFA. response to stimulus|visual perception basement membrane calcium ion binding ovary(22)|skin(1) 23 GCCCAGTGACAATTACCACAG 0.363 NA 7 40 0 0 0.004482 0 0 HMCN1 83872 broad.mit.edu 37 1 186022202 186022202 + Missense_Mutation SNP G G C TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr1:186022202G>C uc001grq.1 + 43 6925 c.6696G>C c.(6694-6696)AAG>AAC p.K2232N NM_031935 NP_114141 Q96RW7 HMCN1_HUMAN hemicentin 1 precursor 2232 Ig-like C2-type 20. response to stimulus|visual perception basement membrane calcium ion binding ovary(22)|skin(1) 23 TCTGGAAGAAGAAAGGTCAGT 0.308 NA 3 74 0 0 0.009096 0 0 HMCN1 83872 broad.mit.edu 37 1 186114890 186114890 + Nonsense_Mutation SNP G G T TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr1:186114890G>T uc001grq.1 + 93 14672 c.14443G>T c.(14443-14445)GGA>TGA p.G4815* HMCN1_uc001grs.1_Nonsense_Mutation_p.G384* NM_031935 NP_114141 Q96RW7 HMCN1_HUMAN hemicentin 1 precursor 4815 TSP type-1 6. response to stimulus|visual perception basement membrane calcium ion binding ovary(22)|skin(1) 23 CACAGTGGATGGAAGTTGGGG 0.478 NA 8 81 1.12685e-05 1.29789e-05 0.004482 1 0 CRB1 23418 broad.mit.edu 37 1 197390932 197390932 + Silent SNP C C A TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr1:197390932C>A uc001gtz.2 + 6 2109 c.1974C>A c.(1972-1974)ATC>ATA p.I658I CRB1_uc010poz.1_Silent_p.I589I|CRB1_uc010ppa.1_RNA|CRB1_uc009wza.2_Silent_p.I546I|CRB1_uc010ppb.1_Silent_p.I658I|CRB1_uc010ppc.1_RNA|CRB1_uc010ppd.1_Silent_p.I139I|CRB1_uc001gub.1_Silent_p.I307I NM_201253 NP_957705 P82279 CRUM1_HUMAN crumbs homolog 1 precursor 658 Extracellular (Potential).|Laminin G-like 1. cell-cell signaling|establishment or maintenance of cell polarity apical plasma membrane|extracellular region|integral to membrane calcium ion binding|protein binding ovary(5)|skin(3)|large_intestine(1) 9 TGGAGAACATCTCGTCTGGCT 0.443 NA 24 98 1.55469e-16 2.46838e-16 0.00333 1 0 TNNT2 7139 broad.mit.edu 37 1 201334424 201334424 + Silent SNP C C G TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr1:201334424C>G uc001gwf.2 - 10 375 c.306G>C c.(304-306)CGG>CGC p.R102R TNNT2_uc001gwg.2_Silent_p.R92R|TNNT2_uc001gwh.2_Silent_p.R87R|TNNT2_uc001gwi.2_Intron|TNNT2_uc009wzr.2_Silent_p.R33R|TNNT2_uc001gwj.1_5'Flank|TNNT2_uc009wzs.1_Silent_p.R67R|TNNT2_uc001gwk.1_Silent_p.R33R|TNNT2_uc009wzt.1_Silent_p.R92R NM_000364 NP_000355 P45379 TNNT2_HUMAN troponin T type 2, cardiac isoform 1 102 R -> Q (in CMH2).|R -> W (in CMH2).|R -> L (in CMH2). ATP catabolic process|muscle filament sliding|negative regulation of ATPase activity|positive regulation of ATPase activity|regulation of heart contraction|response to calcium ion|response to calcium ion|ventricular cardiac muscle tissue morphogenesis cytosol|troponin complex actin binding|tropomyosin binding|troponin C binding|troponin I binding 0 CCATGCGCTTCCGGTGGATGT 0.577 NA 18 169 0 0 0.00333 0 0 IKBKE 9641 broad.mit.edu 37 1 206652443 206652443 + Missense_Mutation SNP A A G TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr1:206652443A>G uc001hdz.1 + 10 1518 c.1150A>G c.(1150-1152)ACA>GCA p.T384A IKBKE_uc009xbv.1_Missense_Mutation_p.T384A|IKBKE_uc001hea.1_Missense_Mutation_p.T299A NM_014002 NP_054721 Q14164 IKKE_HUMAN IKK-related kinase epsilon 384 DNA damage response, signal transduction resulting in induction of apoptosis|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|endosome membrane|plasma membrane|PML body ATP binding|IkappaB kinase activity|NF-kappaB-inducing kinase activity|protein binding ovary(3)|lung(3)|central_nervous_system(1)|skin(1) 8 Breast(84;0.137) CCTCTTCAGCACAGCCATCCC 0.597 NA 15 61 0 0 0.00499 0 0 LAMB3 3914 broad.mit.edu 37 1 209811879 209811879 + Missense_Mutation SNP C C A TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr1:209811879C>A uc001hhg.2 - 3 688 c.298G>T c.(298-300)GAT>TAT p.D100Y LAMB3_uc009xco.2_Missense_Mutation_p.D100Y|LAMB3_uc001hhh.2_Missense_Mutation_p.D100Y|LAMB3_uc010psl.1_RNA|LAMB3_uc009xcp.1_Missense_Mutation_p.D100Y NM_001017402 NP_001017402 Q13751 LAMB3_HUMAN laminin, beta 3 precursor 100 Laminin N-terminal. cell adhesion|epidermis development|hemidesmosome assembly structural molecule activity central_nervous_system(2)|skin(2)|large_intestine(1)|ovary(1) 6 OV - Ovarian serous cystadenocarcinoma(81;0.0519) AAATGCTCACCATTCTGTGAC 0.532 NA 33 44 1.90571e-15 2.93536e-15 0.004289 1 0 KCNK2 3776 broad.mit.edu 37 1 215259899 215259899 + Missense_Mutation SNP G G A TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr1:215259899G>A uc001hkq.2 + 2 404 c.235G>A c.(235-237)GTG>ATG p.V79M KCNK2_uc001hko.2_Missense_Mutation_p.V75M|KCNK2_uc009xdm.2_RNA|KCNK2_uc001hkp.2_RNA|KCNK2_uc010pua.1_RNA|KCNK2_uc001hkr.3_Missense_Mutation_p.V64M NM_001017425 NP_001017425 O95069 KCNK2_HUMAN potassium channel, subfamily K, member 2 isoform 79 Helical; (Potential). outward rectifier potassium channel activity 0 OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068) Dofetilide(DB00204) CGGAGCCACCGTGTTCAAAGC 0.473 NA 4 77 0 0 0.001168 0 0 KCNK2 3776 broad.mit.edu 37 1 215345448 215345448 + Nonsense_Mutation SNP G G T TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr1:215345448G>T uc001hkq.2 + 5 914 c.745G>T c.(745-747)GAA>TAA p.E249* KCNK2_uc001hko.2_Nonsense_Mutation_p.E245*|KCNK2_uc009xdm.2_Intron|KCNK2_uc001hkp.2_RNA|KCNK2_uc010pua.1_RNA|KCNK2_uc001hkr.3_Nonsense_Mutation_p.E234* NM_001017425 NP_001017425 O95069 KCNK2_HUMAN potassium channel, subfamily K, member 2 isoform 249 outward rectifier potassium channel activity 0 OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068) Dofetilide(DB00204) CAAACACATAGAAGGCTGGAG 0.418 NA 24 81 1.33986e-20 2.2447e-20 0.004656 1 0 NUP133 55746 broad.mit.edu 37 1 229635556 229635556 + Missense_Mutation SNP C C A TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr1:229635556C>A uc001htn.2 - 5 615 c.523G>T c.(523-525)GTC>TTC p.V175F NM_018230 NP_060700 Q8WUM0 NU133_HUMAN nucleoporin 133kDa 175 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytosol|Nup107-160 complex nucleocytoplasmic transporter activity|protein binding breast(4)|skin(2)|ovary(1) 7 Breast(184;0.104)|Ovarian(103;0.249) Prostate(94;0.167) GCAACCATGACAGCAACAGCC 0.448 NA 8 33 2.17888e-05 2.47099e-05 0.006214 1 0 AGT 183 broad.mit.edu 37 1 230846207 230846207 + Silent SNP C C A TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr1:230846207C>A uc001hty.3 - 2 898 c.390G>T c.(388-390)GGG>GGT p.G130G AGT_uc009xfe.2_Silent_p.G130G|AGT_uc009xff.2_Silent_p.G102G NM_000029 NP_000020 P01019 ANGT_HUMAN angiotensinogen preproprotein 130 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|blood vessel remodeling|cell-cell signaling|cellular lipid metabolic process|G-protein signaling, coupled to cGMP nucleotide second messenger|kidney development|low-density lipoprotein particle remodeling|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of activation of JAK2 kinase activity|positive regulation of apoptosis|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of cardiac muscle hypertrophy|positive regulation of cholesterol esterification|positive regulation of cytokine production|positive regulation of endothelial cell migration|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of fibroblast proliferation|positive regulation of inflammatory response|positive regulation of NAD(P)H oxidase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein tyrosine kinase activity|positive regulation of reactive oxygen species metabolic process|positive regulation of transcription, DNA-dependent|regulation of proteolysis|regulation of renal output by angiotensin|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|response to muscle activity involved in regulation of muscle adaptation extracellular space|soluble fraction acetyltransferase activator activity|growth factor activity|hormone activity|serine-type endopeptidase inhibitor activity|type 1 angiotensin receptor binding|type 2 angiotensin receptor binding 0 Breast(184;0.0735)|Ovarian(103;0.183) all_cancers(173;4.64e-23)|all_epithelial(177;3.61e-18)|Breast(1374;0.00093)|all_neural(198;0.0604)|Prostate(94;0.167) GBM - Glioblastoma multiforme(131;4.4e-06)|Colorectal(1306;5.46e-06)|COAD - Colon adenocarcinoma(196;0.000256)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) Aliskiren(DB01258)|Atorvastatin(DB01076)|Cilazapril(DB01340)|Irbesartan(DB01029)|Lisinopril(DB00722)|Ouabain(DB01092)|Simvastatin(DB00641) GGACGGTGGCCCCATGGACCA 0.597 NA 31 103 2.42023e-17 3.89047e-17 0.003271 1 0 KIAA1804 84451 broad.mit.edu 37 1 233464558 233464558 + Missense_Mutation SNP C C T TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr1:233464558C>T uc001hvt.3 + 1 1045 c.784C>T c.(784-786)CGG>TGG p.R262W KIAA1804_uc001hvs.1_Missense_Mutation_p.R262W NM_032435 NP_115811 Q5TCX8 M3KL4_HUMAN mixed lineage kinase 4 262 Protein kinase. activation of JUN kinase activity|protein autophosphorylation ATP binding|MAP kinase kinase kinase activity|protein homodimerization activity lung(5)|central_nervous_system(2)|skin(1) 8 all_cancers(173;0.000405)|all_epithelial(177;0.0345)|Prostate(94;0.122) CATCCTGCACCGGGACCTCAA 0.602 NA 3 16 0 0 0.004672 0 0 ACTN2 88 broad.mit.edu 37 1 236891015 236891015 + Silent SNP C C A TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr1:236891015C>A uc001hyf.2 + 6 778 c.574C>A c.(574-576)CGA>AGA p.R192R ACTN2_uc001hyg.2_5'UTR|ACTN2_uc009xgi.1_Silent_p.R192R NM_001103 NP_001094 P35609 ACTN2_HUMAN actinin, alpha 2 192 CH 2.|Actin-binding. focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding ovary(4)|skin(1) 5 Ovarian(103;0.0634)|Breast(184;0.221) all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174) OV - Ovarian serous cystadenocarcinoma(106;0.00168) CCTCATCCACCGACACCGGCC 0.547 NA 17 91 5.3912e-06 6.25137e-06 0.006122 1 0 ACTN2 88 broad.mit.edu 37 1 236911069 236911069 + Silent SNP C C A TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr1:236911069C>A uc001hyf.2 + 13 1713 c.1509C>A c.(1507-1509)GCC>GCA p.A503A ACTN2_uc001hyg.2_Silent_p.A295A|ACTN2_uc009xgi.1_Silent_p.A503A|ACTN2_uc010pxu.1_Silent_p.A192A|ACTN2_uc001hyh.2_Silent_p.A191A NM_001103 NP_001094 P35609 ACTN2_HUMAN actinin, alpha 2 503 Spectrin 2. focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding ovary(4)|skin(1) 5 Ovarian(103;0.0634)|Breast(184;0.221) all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174) OV - Ovarian serous cystadenocarcinoma(106;0.00168) GGAGAGAAGCCCTAGAGGTGA 0.428 NA 3 21 0.004672 0.00484087 0.004672 1 0 MAP1LC3C 440738 broad.mit.edu 37 1 242159555 242159555 + Silent SNP G G T TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr1:242159555G>T uc001hzk.2 - 4 429 c.354C>A c.(352-354)ACC>ACA p.T118T NM_001004343 NP_001004343 Q9BXW4 MLP3C_HUMAN microtubule-associated protein 1 light chain 3 118 autophagy autophagic vacuole membrane|cytoplasmic vesicle|endomembrane system|microtubule protein binding ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(106;0.0188) GGGAGGCGTAGGTCATGTACA 0.557 NA 17 90 1.74485e-21 2.96165e-21 0.007413 1 0 OR2G3 81469 broad.mit.edu 37 1 247769025 247769025 + Missense_Mutation SNP C C G TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr1:247769025C>G uc010pyz.1 + 1 138 c.138C>G c.(136-138)ATC>ATG p.I46M NM_001001914 NP_001001914 Q8NGZ4 OR2G3_HUMAN olfactory receptor, family 2, subfamily G, 46 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1) 1 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.017) TCACCATAATCATCATCTCAT 0.463 NA 93 112 0 0 0.01441 0 0 TRIM58 25893 broad.mit.edu 37 1 248039386 248039386 + Silent SNP G G T TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr1:248039386G>T uc001ido.2 + 6 1104 c.1056G>T c.(1054-1056)GTG>GTT p.V352V OR2W3_uc001idp.1_Intron NM_015431 NP_056246 Q8NG06 TRI58_HUMAN tripartite motif-containing 58 352 B30.2/SPRY. intracellular zinc ion binding skin(3)|ovary(1)|pancreas(1)|lung(1)|central_nervous_system(1) 7 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) all_cancers(173;0.0286) OV - Ovarian serous cystadenocarcinoma(106;0.0319) AGGTTCTGGTGGGAGAAGGAG 0.577 NA 25 38 1.75199e-13 2.62798e-13 0.007291 1 0 OR2T8 343172 broad.mit.edu 37 1 248085099 248085099 + Silent SNP C C A TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr1:248085099C>A uc010pzc.1 + 1 780 c.780C>A c.(778-780)CCC>CCA p.P260P NM_001005522 NP_001005522 A6NH00 OR2T8_HUMAN olfactory receptor, family 2, subfamily T, 260 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) all_cancers(173;0.0211) OV - Ovarian serous cystadenocarcinoma(106;0.0319) ATATGAGACCCAAATCCCACA 0.488 NA 16 17 2.89027e-11 3.97701e-11 0.014323 1 0 OR2L2 26246 broad.mit.edu 37 1 248202392 248202392 + Missense_Mutation SNP G G A TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr1:248202392G>A uc001idw.2 + 1 919 c.823G>A c.(823-825)GTT>ATT p.V275I OR2L13_uc001ids.2_Intron NM_001004686 NP_001004686 Q8NH16 OR2L2_HUMAN olfactory receptor, family 2, subfamily L, 275 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|central_nervous_system(1)|skin(1) 3 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0278) GATTCTGGCTGTTTTCTACAC 0.488 NA 20 77 0 0 0.008871 0 0 OR2L2 26246 broad.mit.edu 37 1 248202407 248202407 + Missense_Mutation SNP C C A TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr1:248202407C>A uc001idw.2 + 1 934 c.838C>A c.(838-840)CTC>ATC p.L280I OR2L13_uc001ids.2_Intron NM_001004686 NP_001004686 Q8NH16 OR2L2_HUMAN olfactory receptor, family 2, subfamily L, 280 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|central_nervous_system(1)|skin(1) 3 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0278) CTACACCATCCTCACCCCAAT 0.468 NA 22 81 1.22574e-08 1.5502e-08 0.014323 1 0 OR2L13 284521 broad.mit.edu 37 1 248262809 248262809 + Missense_Mutation SNP G G C TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr1:248262809G>C uc001ids.2 + 3 469 c.132G>C c.(130-132)ATG>ATC p.M44I NM_175911 NP_787107 Q8N349 OR2LD_HUMAN olfactory receptor, family 2, subfamily L, 44 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity|protein binding central_nervous_system(2)|ovary(1)|skin(1) 4 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0132) ACTCGGCCATGATTCACCTCA 0.493 NA 86 89 0 0 0.01441 0 0 OR2M4 26245 broad.mit.edu 37 1 248402257 248402257 + Missense_Mutation SNP C C A TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr1:248402257C>A uc010pzh.1 + 1 27 c.27C>A c.(25-27)AAC>AAA p.N9K NM_017504 NP_059974 Q96R27 OR2M4_HUMAN olfactory receptor, family 2, subfamily M, 9 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2) 2 all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0245) AGACCTTCAACTCCATCTTCA 0.418 NA 29 66 4.31634e-10 5.78144e-10 0.012213 1 0 OR2T33 391195 broad.mit.edu 37 1 248436337 248436337 + Silent SNP G G T TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr1:248436337G>T uc010pzi.1 - 1 780 c.780C>A c.(778-780)CCC>CCA p.P260P NM_001004695 NP_001004695 Q8NG76 O2T33_HUMAN olfactory receptor, family 2, subfamily T, 260 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(1)|ovary(1) 2 all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0245) TATGGGATTTGGGTCTCATAT 0.478 NA 6 106 1.64293e-13 2.47159e-13 0.00333 1 0 TUBB8 347688 broad.mit.edu 37 10 93866 93866 + Silent SNP G G T rs141258404 TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr10:93866G>T uc001ifi.2 - 4 466 c.466C>A c.(466-468)CGG>AGG p.R156R TUBB8_uc009xhe.2_Silent_p.R119R|TUBB8_uc010pzs.1_Silent_p.R84R NM_177987 NP_817124 Q3ZCM7 TBB8_HUMAN tubulin, beta 8 isoform 1 156 microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|structural molecule activity ovary(1) 1 all_cancers(4;0.00131)|all_lung(4;0.000777)|Lung NSC(4;0.0043)|all_epithelial(10;0.0154)|Colorectal(49;0.235) Epithelial(11;0.00341)|all cancers(11;0.00922)|OV - Ovarian serous cystadenocarcinoma(14;0.0508)|Lung(33;0.132) TACTCCTCCCGGATCTTACTG 0.607 Pancreas(192;2041 3010 9013 18103) NA 30 60 1.36615e-20 2.28133e-20 0.013726 1 0 PFKP 5214 broad.mit.edu 37 10 3141545 3141545 + Splice_Site SNP G G T TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr10:3141545G>T uc001igp.2 + 3 300 c.264_splice c.e3+1 p.V88_splice PFKP_uc001igq.2_Splice_Site_p.G54_splice|PFKP_uc009xhr.2_Splice_Site_p.V50_splice NM_002627 NP_002618 Q01813 K6PP_HUMAN phosphofructokinase, platelet 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) CCTGCAAGTGGTAGGTACTGG 0.522 NA 29 95 2.46105e-21 4.16362e-21 0.010818 1 0 USP6NL 9712 broad.mit.edu 37 10 11504481 11504481 + Missense_Mutation SNP T T G TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr10:11504481T>G uc001ikt.3 - 15 2767 c.2446A>C c.(2446-2448)AAT>CAT p.N816H USP6NL_uc001iks.1_Missense_Mutation_p.N833H NM_014688 NP_055503 Q92738 US6NL_HUMAN USP6 N-terminal like isoform 1 816 intracellular Rab GTPase activator activity 0 CCGTCCCGATTCCTGTAGTGG 0.507 NA 18 31 0 0 0.010504 0 0 DHTKD1 55526 broad.mit.edu 37 10 12143171 12143171 + Silent SNP G G T TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr10:12143171G>T uc001ild.3 + 10 1986 c.1887G>T c.(1885-1887)GGG>GGT p.G629G NM_018706 NP_061176 Q96HY7 DHTK1_HUMAN dehydrogenase E1 and transketolase domain 629 glycolysis mitochondrion oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding ovary(1)|central_nervous_system(1) 2 Renal(717;0.228) BRCA - Breast invasive adenocarcinoma(52;0.188) ATCAGAAGGGGTTTCTAGAGG 0.473 NA 8 11 0.00307968 0.00322991 0.00308 1 0 MSRB2 22921 broad.mit.edu 37 10 23408279 23408279 + Nonsense_Mutation SNP G G T TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr10:23408279G>T uc001iro.2 + 4 454 c.343G>T c.(343-345)GAG>TAG p.E115* NM_012228 NP_036360 Q9Y3D2 MSRB2_HUMAN methionine sulfoxide reductase B2 precursor 115 protein repair mitochondrion peptide-methionine-(S)-S-oxide reductase activity|protein-methionine-R-oxide reductase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 L-Methionine(DB00134) TTCGTTTTCCGAGGCTCATGG 0.498 Esophageal Squamous(89;1240 1363 4973 30188 42299) NA 17 46 1.67942e-08 2.11877e-08 0.006122 1 0 ANKRD26 22852 broad.mit.edu 37 10 27303608 27303608 + Missense_Mutation SNP C C G TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr10:27303608C>G uc001ith.2 - 31 4708 c.4536G>C c.(4534-4536)CAG>CAC p.Q1512H ANKRD26_uc001itg.2_Missense_Mutation_p.Q1199H|ANKRD26_uc009xku.1_Missense_Mutation_p.Q1513H NM_014915 NP_055730 Q9UPS8 ANR26_HUMAN ankyrin repeat domain 26 1512 centrosome large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|skin(1) 4 TCTCTCTAAACTGCTCTAAGT 0.333 NA 4 13 0 0 0.001984 0 0 KIAA1462 57608 broad.mit.edu 37 10 30316484 30316484 + Missense_Mutation SNP C C G TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr10:30316484C>G uc001iux.2 - 2 2652 c.2593G>C c.(2593-2595)GAG>CAG p.E865Q KIAA1462_uc001iuy.2_Intron|KIAA1462_uc001iuz.2_Missense_Mutation_p.E727Q|KIAA1462_uc009xle.1_Missense_Mutation_p.E865Q NM_020848 NP_065899 Q9P266 K1462_HUMAN hypothetical protein LOC57608 865 ovary(4) 4 TGCTGCGGCTCCGCCTCACTC 0.463 NA 5 62 0 0 0.001168 0 0 ZNF33B 7582 broad.mit.edu 37 10 43089490 43089490 + Missense_Mutation SNP C C A TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr10:43089490C>A uc001jaf.1 - 5 1023 c.908G>T c.(907-909)TGT>TTT p.C303F ZNF33B_uc009xmg.1_Intron|ZNF33B_uc001jae.1_Intron|ZNF33B_uc001jag.1_Missense_Mutation_p.C191F|ZNF33B_uc001jad.2_Intron NM_006955 NP_008886 Q06732 ZN33B_HUMAN zinc finger protein 33B 303 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 ACTTTCACCACAATCATAGTG 0.383 Melanoma(137;1247 1767 16772 25727 43810) NA 23 60 9.95505e-16 1.54258e-15 0.014323 1 0 PCDH15 65217 broad.mit.edu 37 10 55568867 55568867 + Missense_Mutation SNP G G T TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr10:55568867G>T uc010qhs.1 - 37 5353 c.4958C>A c.(4957-4959)ACA>AAA p.T1653K PCDH15_uc010qhq.1_Intron|PCDH15_uc010qhr.1_Intron|PCDH15_uc010qht.1_Missense_Mutation_p.T1646K|PCDH15_uc010qhu.1_3'UTR NM_001142769 NP_001136241 Q96QU1 PCD15_HUMAN protocadherin 15 isoform CD2-1 precursor Error:Variant_position_missing_in_Q96QU1_after_alignment equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2) 13 Melanoma(3;0.117)|Lung SC(717;0.238) TTCTGACTCTGTGGATTCCGA 0.458 NA HNSCC(58;0.16) 13 27 1.61879e-10 2.19238e-10 0.013537 1 0 FAM13C 220965 broad.mit.edu 37 10 61112086 61112086 + Missense_Mutation SNP T T C TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr10:61112086T>C uc001jkn.2 - 4 402 c.268A>G c.(268-270)AGG>GGG p.R90G FAM13C_uc001jko.2_Missense_Mutation_p.R90G|FAM13C_uc010qid.1_Missense_Mutation_p.R7G|FAM13C_uc010qie.1_Missense_Mutation_p.R7G|FAM13C_uc010qif.1_Missense_Mutation_p.R112G|FAM13C_uc001jkp.2_Missense_Mutation_p.R7G NM_198215 NP_937858 Q8NE31 FA13C_HUMAN hypothetical protein LOC220965 isoform 1 90 ovary(2) 2 TTGGGCTTCCTGGACTTGAAG 0.592 NA 20 63 0 0 0.00278 0 0 STOX1 219736 broad.mit.edu 37 10 70646248 70646248 + Missense_Mutation SNP A A T TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr10:70646248A>T uc001jos.2 + 3 2783 c.2696A>T c.(2695-2697)CAA>CTA p.Q899L STOX1_uc001jor.2_Intron|STOX1_uc009xpy.2_Intron|STOX1_uc001joq.2_Missense_Mutation_p.Q789L NM_001130161 NP_001123633 Q6ZVD7 STOX1_HUMAN storkhead box 1 isoform a 899 cytoplasm|nucleolus DNA binding kidney(1)|skin(1) 2 CATTTCCCACAAAAGTTCCAA 0.438 NA 14 39 0 0 0.003163 0 0 ADAMTS14 140766 broad.mit.edu 37 10 72468463 72468463 + Missense_Mutation SNP G G T TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr10:72468463G>T uc001jrh.2 + 4 799 c.799G>T c.(799-801)GTG>TTG p.V267L ADAMTS14_uc001jrg.2_Missense_Mutation_p.V267L NM_080722 NP_542453 Q8WXS8 ATS14_HUMAN ADAM metallopeptidase with thrombospondin type 1 267 Peptidase M12B. collagen catabolic process|proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(5)|upper_aerodigestive_tract(1) 6 GCTGCTGGTGGTGGACGACTC 0.607 NA 23 85 3.28513e-13 4.87105e-13 0.003954 1 0 USP54 159195 broad.mit.edu 37 10 75296160 75296160 + Silent SNP G G A TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr10:75296160G>A uc001juo.2 - 9 1028 c.1011C>T c.(1009-1011)TGC>TGT p.C337C USP54_uc001jum.2_RNA|USP54_uc001jun.2_RNA|USP54_uc001jup.2_Silent_p.C337C|USP54_uc010qkl.1_Silent_p.C337C|USP54_uc001juq.1_Silent_p.C130C NM_152586 NP_689799 Q70EL1 UBP54_HUMAN ubiquitin specific peptidase 54 337 ubiquitin-dependent protein catabolic process protein binding|ubiquitin thiolesterase activity breast(3)|lung(2)|kidney(1) 6 Prostate(51;0.0112) GCCCCTTGATGCATTTGGTCA 0.483 Colon(195;880 2046 8854 25025 38456) NA 22 85 0 0 0.005443 0 0 C10orf2 56652 broad.mit.edu 37 10 102753033 102753033 + Missense_Mutation SNP G G C TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr10:102753033G>C uc001ksf.2 + 5 2496 c.1821G>C c.(1819-1821)AAG>AAC p.K607N C10orf2_uc001ksg.2_3'UTR|C10orf2_uc001ksi.2_3'UTR|C10orf2_uc010qpv.1_Missense_Mutation_p.K153N|C10orf2_uc001ksh.2_RNA NM_021830 NP_068602 Q96RR1 PEO1_HUMAN twinkle isoform A 607 SF4 helicase. cell death|mitochondrial DNA replication|protein hexamerization|protein homooligomerization|transcription from mitochondrial promoter mitochondrial nucleoid 5'-3' DNA helicase activity|ATP binding|protease binding|single-stranded DNA binding ovary(1) 1 Colorectal(252;0.122)|all_hematologic(284;0.152) Epithelial(162;7.18e-11)|all cancers(201;8.75e-09)|BRCA - Breast invasive adenocarcinoma(275;0.224) AGGTGTCCAAGAACCGCTTTG 0.542 NA 10 131 0 0 0.008291 0 0 PPRC1 23082 broad.mit.edu 37 10 103907013 103907013 + Missense_Mutation SNP C C T TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr10:103907013C>T uc001kum.2 + 9 4303 c.4264C>T c.(4264-4266)CGC>TGC p.R1422C PPRC1_uc001kun.2_Missense_Mutation_p.R1302C|PPRC1_uc010qqj.1_Intron|PPRC1_uc009xxa.2_Intron NM_015062 NP_055877 Q5VV67 PPRC1_HUMAN peroxisome proliferator-activated receptor 1422 Arg-rich.|Necessary for interaction with CREB1 and NRF1.|Ser-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleotide binding|RNA binding ovary(1)|central_nervous_system(1)|skin(1) 3 Colorectal(252;0.122) Epithelial(162;4.97e-08)|all cancers(201;8.99e-07) CTGGCAGGGCCGCCGAGGCCG 0.617 NA 19 35 0 0 0.012319 0 0 CYP17A1 1586 broad.mit.edu 37 10 104594607 104594607 + Missense_Mutation SNP A A G rs104894150 TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr10:104594607A>G uc001kwg.2 - 3 773 c.601T>C c.(601-603)TAC>CAC p.Y201H NM_000102 NP_000093 P05093 CP17A_HUMAN cytochrome P450, family 17 201 androgen biosynthetic process|glucocorticoid biosynthetic process|sex differentiation|xenobiotic metabolic process endoplasmic reticulum membrane electron carrier activity|heme binding|oxygen binding|steroid 17-alpha-monooxygenase activity 0 Colorectal(252;0.122)|all_hematologic(284;0.152) Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215) NADH(DB00157)|Progesterone(DB00396) CCTTCATTGTAATTCTGTATG 0.493 NA OREG0020487 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 25 63 0 0 0.005443 0 0 C10orf79 80217 broad.mit.edu 37 10 105921783 105921783 + Missense_Mutation SNP A A T TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr10:105921783A>T uc001kxw.2 - 26 3466 c.3350T>A c.(3349-3351)CTC>CAC p.L1117H C10orf79_uc009xxq.2_Missense_Mutation_p.L425H NM_025145 NP_079421 Q8NDM7 WDR96_HUMAN hypothetical protein LOC80217 1117 0 Colorectal(252;0.178) Epithelial(162;4.83e-10)|all cancers(201;2.26e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0194) CAGAGCTCGGAGTCTTGTACT 0.478 NA 72 169 0 0 0.01441 0 0 MKI67 4288 broad.mit.edu 37 10 129901458 129901458 + Silent SNP C C T TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr10:129901458C>T uc001lke.2 - 13 8841 c.8646G>A c.(8644-8646)ACG>ACA p.T2882T MKI67_uc001lkf.2_Silent_p.T2522T|MKI67_uc009yav.1_Silent_p.T2457T|MKI67_uc009yaw.1_Silent_p.T2032T NM_002417 NP_002408 P46013 KI67_HUMAN antigen identified by monoclonal antibody Ki-67 2882 16 X 122 AA approximate repeats.|16. cell proliferation nucleolus ATP binding|protein C-terminus binding ovary(4)|central_nervous_system(2)|skin(1) 7 all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203) TAAATGCTTTCGTGCCTTTGC 0.542 NA 9 104 0 0 0.010729 0 0 ANO9 338440 broad.mit.edu 37 11 433355 433355 + Missense_Mutation SNP G G T rs145003945 byFrequency TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr11:433355G>T uc001lpi.2 - 4 394 c.309C>A c.(307-309)CAC>CAA p.H103Q ANO9_uc010qvv.1_5'UTR NM_001012302 NP_001012302 A1A5B4 ANO9_HUMAN tumor protein p53 inducible protein 5 103 Cytoplasmic (Potential). chloride channel complex chloride channel activity central_nervous_system(2)|ovary(1)|skin(1) 4 CCAGCTCGGCGTGGGGGGCAG 0.642 NA 23 37 7.4402e-23 1.27124e-22 0.003954 1 0 ART1 417 broad.mit.edu 37 11 3681265 3681265 + Silent SNP C C A TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr11:3681265C>A uc001lye.1 + 3 617 c.516C>A c.(514-516)CCC>CCA p.P172P ART1_uc009yeb.1_Silent_p.P172P NM_004314 NP_004305 P52961 NAR1_HUMAN ADP-ribosyltransferase 1 precursor 172 protein ADP-ribosylation anchored to membrane|integral to plasma membrane|sarcoplasmic reticulum membrane NAD(P)+-protein-arginine ADP-ribosyltransferase activity|NAD+ ADP-ribosyltransferase activity 0 Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227) BRCA - Breast invasive adenocarcinoma(625;0.0351)|LUSC - Lung squamous cell carcinoma(625;0.195) Becaplermin(DB00102) AGCGTCCACCCCGGTGCCACC 0.692 NA 18 29 4.75885e-15 7.26499e-15 0.00499 1 0 OR52B4 143496 broad.mit.edu 37 11 4389414 4389414 + Missense_Mutation SNP C C T TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr11:4389414C>T uc010qye.1 - 1 112 c.112G>A c.(112-114)GTC>ATC p.V38I NM_001005161 NP_001005161 Q8NGK2 O52B4_HUMAN olfactory receptor, family 52, subfamily B, 38 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 Medulloblastoma(188;0.0075)|Breast(177;0.0249)|all_neural(188;0.0577) Epithelial(150;1.57e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0826)|LUSC - Lung squamous cell carcinoma(625;0.19) AGGGCGGTGACATAGGAAATG 0.527 NA 7 18 0 0 0.001984 0 0 OR51S1 119692 broad.mit.edu 37 11 4870090 4870090 + Missense_Mutation SNP C C T TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr11:4870090C>T uc010qyo.1 - 1 349 c.349G>A c.(349-351)GTC>ATC p.V117I NM_001004758 NP_001004758 Q8NGJ8 O51S1_HUMAN olfactory receptor, family 51, subfamily S, 117 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|upper_aerodigestive_tract(1)|ovary(1) 4 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19) GACTCCATGACAGAAAAGACA 0.557 NA 31 66 0 0 0.010818 0 0 OR51G2 81282 broad.mit.edu 37 11 4935983 4935983 + Missense_Mutation SNP A A T TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr11:4935983A>T uc001lzr.1 - 1 911 c.911T>A c.(910-912)ATC>AAC p.I304N NM_001005238 NP_001005238 Q8NGK0 O51G2_HUMAN olfactory receptor, family 51, subfamily G, 304 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19) TCGATCCCGGATCTGTTTGGT 0.473 NA 8 26 0 0 0.00308 0 0 OR52A1 23538 broad.mit.edu 37 11 5173074 5173074 + Missense_Mutation SNP C C T TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr11:5173074C>T uc010qyy.1 - 1 526 c.526G>A c.(526-528)GTC>ATC p.V176I NM_012375 NP_036507 Q9UKL2 O52A1_HUMAN olfactory receptor, family 52, subfamily A, 176 Extracellular (Potential). sensory perception of smell integral to plasma membrane olfactory receptor activity ovary(1)|breast(1) 2 Medulloblastoma(188;0.00106)|Breast(177;0.0155)|all_neural(188;0.0189) Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) TGGGAGATGACTGTTGTGTGA 0.433 NA 25 57 0 0 0.009535 0 0 SAA2 6289 broad.mit.edu 37 11 18269517 18269517 + Silent SNP C C G TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr11:18269517C>G uc001mnz.3 - 2 79 c.42G>C c.(40-42)CTG>CTC p.L14L SAA2_uc009yhj.2_Silent_p.L14L NM_030754 NP_110381 P02735 SAA_HUMAN serum amyloid A2 isoform a 14 acute-phase response|elevation of cytosolic calcium ion concentration|innate immune response|lymphocyte chemotaxis|macrophage chemotaxis|negative regulation of inflammatory response|neutrophil chemotaxis|platelet activation|positive regulation of cell adhesion|positive regulation of interleukin-1 secretion high-density lipoprotein particle G-protein-coupled receptor binding 0 Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064) TGCTGACACTCAGGACCAAGG 0.517 NA 4 61 0 0 0.009096 0 0 IGSF22 283284 broad.mit.edu 37 11 18740270 18740270 + Silent SNP G G T TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr11:18740270G>T uc009yht.2 - 8 892 c.702C>A c.(700-702)ATC>ATA p.I234I IGSF22_uc001mpa.2_RNA NM_173588 NP_775859 Q8N9C0 IGS22_HUMAN immunoglobulin superfamily, member 22 234 Ig-like 2. ovary(4)|large_intestine(2)|kidney(1) 7 TCAGAATCCGGATGGCCTGAG 0.458 NA 20 52 2.89027e-11 3.97701e-11 0.014323 1 0 OR5D18 219438 broad.mit.edu 37 11 55587463 55587463 + Missense_Mutation SNP G G A TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr11:55587463G>A uc010rin.1 + 1 358 c.358G>A c.(358-360)GCC>ACC p.A120T NM_001001952 NP_001001952 Q8NGL1 OR5DI_HUMAN olfactory receptor, family 5, subfamily D, 120 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|ovary(1) 3 all_epithelial(135;0.208) AGCTGTGATGGCCTATGACCG 0.453 NA 30 95 0 0 0.008361 0 0 OR5L2 26338 broad.mit.edu 37 11 55594811 55594811 + Missense_Mutation SNP G G T TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr11:55594811G>T uc001nhy.1 + 1 117 c.117G>T c.(115-117)TTG>TTT p.L39F NM_001004739 NP_001004739 Q8NGL0 OR5L2_HUMAN olfactory receptor, family 5, subfamily L, 39 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 all_epithelial(135;0.208) GAGTCACGTTGTTAGCCAATC 0.507 NA HNSCC(27;0.073) 12 237 4.93089e-13 7.29037e-13 0.00245 1 0 OR5T2 219464 broad.mit.edu 37 11 55999732 55999732 + Missense_Mutation SNP G G T TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr11:55999732G>T uc010rjc.1 - 1 930 c.930C>A c.(928-930)GAC>GAA p.D310E NM_001004746 NP_001004746 Q8NGG2 OR5T2_HUMAN olfactory receptor, family 5, subfamily T, 310 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2) 2 Esophageal squamous(21;0.00448) ACACTATCATGTCATGGTCCG 0.398 NA 23 83 1.04121e-07 1.28226e-07 0.005443 1 0 OR5M10 390167 broad.mit.edu 37 11 56344661 56344661 + Silent SNP G G A TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr11:56344661G>A uc001niz.1 - 1 537 c.537C>T c.(535-537)TGC>TGT p.C179C NM_001004741 NP_001004741 Q6IEU7 OR5MA_HUMAN olfactory receptor, family 5, subfamily M, 179 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 GAGGATCAGCGCAGTAGAAAT 0.468 NA 20 25 0 0 0.005443 0 0 OR10W1 81341 broad.mit.edu 37 11 58034615 58034615 + Missense_Mutation SNP A A G TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr11:58034615A>G uc001nmq.1 - 1 1118 c.716T>C c.(715-717)GTG>GCG p.V239A NM_207374 NP_997257 Q8NGF6 O10W1_HUMAN olfactory receptor, family 10, subfamily W, 239 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 Breast(21;0.0589) CTGCAGCAGCACCACAGTGAG 0.582 NA 31 79 0 0 0.003755 0 0 MS4A14 84689 broad.mit.edu 37 11 60184092 60184092 + Missense_Mutation SNP C C A TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr11:60184092C>A uc001npj.2 + 5 2216 c.1651C>A c.(1651-1653)CAA>AAA p.Q551K MS4A14_uc001npi.2_Missense_Mutation_p.Q439K|MS4A14_uc001npn.2_Missense_Mutation_p.Q289K|MS4A14_uc001npk.2_Missense_Mutation_p.Q534K|MS4A14_uc001npl.2_Missense_Mutation_p.Q289K|MS4A14_uc001npm.2_Missense_Mutation_p.Q289K NM_032597 NP_115986 Q96JA4 M4A14_HUMAN membrane-spanning 4-domains, subfamily A, member 551 Gln-rich. integral to membrane receptor activity breast(1) 1 CGTAGATAAGCAAGCTCAACT 0.448 NA 10 25 0.000442599 0.000480803 0.006214 1 0 PAAF1 80227 broad.mit.edu 37 11 73625495 73625495 + Silent SNP C C G rs150921516 TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr11:73625495C>G uc001ouk.1 + 8 799 c.765C>G c.(763-765)CTC>CTG p.L255L PAAF1_uc001oul.1_Silent_p.L238L|PAAF1_uc009ytx.1_RNA|PAAF1_uc001oum.1_Silent_p.L238L NM_025155 NP_079431 Q9BRP4 PAAF1_HUMAN proteasomal ATPase-associated factor 1 255 interspecies interaction between organisms proteasome complex protein binding ovary(1)|skin(1) 2 Breast(11;7.42e-05) AAATGCTGCTCTTGGCCCGGG 0.502 NA 6 53 0 0 0.001984 0 0 RPS3 6188 broad.mit.edu 37 11 75115797 75115797 + Missense_Mutation SNP A A G TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr11:75115797A>G uc001owh.2 + 6 650 c.620A>G c.(619-621)CAC>CGC p.H207R RPS3_uc001owi.2_Missense_Mutation_p.H207R|RPS3_uc001owk.1_Missense_Mutation_p.H81R NM_001005 NP_000996 P23396 RS3_HUMAN ribosomal protein S3 207 activation of caspase activity|endocrine pancreas development|induction of apoptosis|negative regulation of DNA repair|negative regulation of NF-kappaB transcription factor activity|response to DNA damage stimulus|translational elongation|translational initiation|translational termination|viral transcription cytosolic small ribosomal subunit|nucleus|ruffle membrane damaged DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|endonuclease activity|iron-sulfur cluster binding|mRNA binding|NF-kappaB binding|protein kinase binding|structural constituent of ribosome 0 CTGCCTGACCACGTGAGCATT 0.582 NA 31 42 0 0 0.009535 0 0 CCDC89 220388 broad.mit.edu 37 11 85396231 85396231 + Missense_Mutation SNP C C G TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr11:85396231C>G uc001pau.1 - 1 1090 c.943G>C c.(943-945)GAG>CAG p.E315Q NM_152723 NP_689936 Q8N998 CCD89_HUMAN coiled-coil domain containing 89 315 Potential. cytoplasm|nucleus 0 Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572) GCCTCTTGCTCAAACCGCTCC 0.522 NA 24 40 0 0 0.003954 0 0 EED 8726 broad.mit.edu 37 11 85967511 85967511 + Missense_Mutation SNP G G T TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr11:85967511G>T uc001pbp.2 + 5 966 c.509G>T c.(508-510)GGC>GTC p.G170V EED_uc010rtm.1_Missense_Mutation_p.G170V|EED_uc001pbq.2_Missense_Mutation_p.G170V|EED_uc001pbr.2_Missense_Mutation_p.G170V|EED_uc001pbs.2_Missense_Mutation_p.G170V|EED_uc010rtn.1_5'Flank NM_003797 NP_003788 O75530 EED_HUMAN embryonic ectoderm development isoform a 170 Interaction with EZH2 (By similarity).|WD 2.|Required for interaction with the matrix protein MA of HIV-1. negative regulation of transcription, DNA-dependent|transcription, DNA-dependent ESC/E(Z) complex histone methyltransferase activity|identical protein binding p.G170S(1) skin(1)|pancreas(1) 2 Acute lymphoblastic leukemia(157;7.24e-07)|all_hematologic(158;0.00092) GGATCTAGAGGCATAATTAGG 0.373 NA 10 25 4.84862e-15 7.38019e-15 0.010729 1 0 BIRC2 329 broad.mit.edu 37 11 102221329 102221329 + Silent SNP A A G TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr11:102221329A>G uc001pgy.2 + 2 2143 c.744A>G c.(742-744)CCA>CCG p.P248P BIRC2_uc010ruq.1_Silent_p.P199P|BIRC2_uc010rur.1_Silent_p.P248P NM_001166 NP_001157 Q13490 BIRC2_HUMAN baculoviral IAP repeat-containing protein 2 248 BIR 2. cell surface receptor linked signaling pathway|cellular component disassembly involved in apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteasomal ubiquitin-dependent protein catabolic process|protein polyubiquitination CD40 receptor complex|cytosol|internal side of plasma membrane protein N-terminus binding|ubiquitin-protein ligase activity|zinc ion binding ovary(1)|lung(1)|breast(1) 3 all_cancers(8;0.00044)|all_epithelial(12;0.00348)|Lung NSC(15;0.227) Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0093) Lung(13;0.109)|Epithelial(9;0.11)|LUSC - Lung squamous cell carcinoma(19;0.151) BRCA - Breast invasive adenocarcinoma(274;0.0144) CCAACTGTCCATTTTTGGAAA 0.448 NA 14 52 0 0 0.004007 0 0 ZC3H12C 85463 broad.mit.edu 37 11 110035499 110035499 + Missense_Mutation SNP G G A TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr11:110035499G>A uc009yxw.2 + 6 1740 c.1689G>A c.(1687-1689)ATG>ATA p.M563I ZC3H12C_uc010rwc.1_Missense_Mutation_p.M564I|ZC3H12C_uc010rwd.1_Missense_Mutation_p.M564I|ZC3H12C_uc001pkr.3_Missense_Mutation_p.M532I NM_033390 NP_203748 Q9C0D7 ZC12C_HUMAN zinc finger CCCH-type containing 12C 563 endonuclease activity|nucleic acid binding|zinc ion binding 0 all_cancers(61;3.24e-13)|all_epithelial(67;1.27e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544) Epithelial(105;1.72e-06)|BRCA - Breast invasive adenocarcinoma(274;1.17e-05)|all cancers(92;9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0279) CTTCAATGATGATGGCAACCA 0.423 NA 12 26 0 0 0.001855 0 0 NCAM1 4684 broad.mit.edu 37 11 113078567 113078567 + Silent SNP G G A TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr11:113078567G>A uc009yyq.1 + 7 1099 c.405G>A c.(403-405)CAG>CAA p.Q135Q NCAM1_uc001pno.2_Silent_p.Q135Q NM_001076682 NP_001070150 P13591 NCAM1_HUMAN neural cell adhesion molecule 1 isoform 3 253 Ig-like C2-type 3.|Extracellular (Potential). axon guidance|interferon-gamma-mediated signaling pathway anchored to membrane|extracellular region|Golgi membrane|integral to membrane ovary(1) 1 all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207) BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212) ATGGGGAACAGATAGAGCAAG 0.423 NA 3 5 0 0 0.004672 0 0 SLC37A4 2542 broad.mit.edu 37 11 118898449 118898449 + Missense_Mutation SNP G G C TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr11:118898449G>C uc010rys.1 - 5 1272 c.515C>G c.(514-516)TCT>TGT p.S172C SLC37A4_uc009zam.2_RNA|SLC37A4_uc009zan.2_RNA|SLC37A4_uc010ryr.1_Missense_Mutation_p.S172C|SLC37A4_uc010ryt.1_Missense_Mutation_p.S99C|SLC37A4_uc001pus.2_Missense_Mutation_p.S172C NM_001164277 NP_001157749 O43826 G6PT1_HUMAN solute carrier family 37 (glucose-6-phosphate 172 Helical; (Potential). glucose homeostasis|glucose metabolic process endoplasmic reticulum membrane|integral to endoplasmic reticulum membrane|integral to membrane glucose-6-phosphate transmembrane transporter activity|glucose-6-phosphate transmembrane transporter activity large_intestine(1) 1 all_hematologic(175;0.0839) Medulloblastoma(222;0.0425)|all_neural(223;0.112)|all_hematologic(192;0.207) BRCA - Breast invasive adenocarcinoma(274;7.58e-05) CAGTGCCCCAGATAGGGCCAG 0.602 NA Glycogen_Storage_Disease_type_Ib 5 19 0 0 0.000602 0 0 TRIM29 23650 broad.mit.edu 37 11 119998221 119998221 + Silent SNP C C A TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr11:119998221C>A uc001pwz.2 - 3 1081 c.957G>T c.(955-957)CGG>CGT p.R319R TRIM29_uc010rzi.1_Silent_p.R58R|TRIM29_uc010rzj.1_Silent_p.R52R|TRIM29_uc001pxa.2_RNA NM_012101 NP_036233 Q14134 TRI29_HUMAN tripartite motif protein TRIM29 319 Potential. transcription from RNA polymerase II promoter cytoplasm protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|breast(1)|kidney(1)|skin(1) 4 Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;5.37e-06) TCTCCAGGTCCCGCACCAGGT 0.567 NA 16 55 4.7546e-09 6.13344e-09 0.004007 1 0 ATF7IP 55729 broad.mit.edu 37 12 14610230 14610230 + Splice_Site SNP G G T TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr12:14610230G>T uc001rbw.2 + 8 2316 c.2158_splice c.e8+1 p.V720_splice ATF7IP_uc010shs.1_Intron|ATF7IP_uc001rbu.2_Splice_Site_p.V720_splice|ATF7IP_uc001rbv.1_Splice_Site_p.V719_splice|ATF7IP_uc001rbx.2_Splice_Site_p.V719_splice|ATF7IP_uc010sht.1_Intron|ATF7IP_uc001rby.3_Splice_Site_p.V720_splice|ATF7IP_uc001rca.2_Splice_Site_p.V720_splice NM_018179 NP_060649 Q6VMQ6 MCAF1_HUMAN activating transcription factor 7 interacting DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent protein binding lung(3)|ovary(1)|skin(1) 5 GTGAATACAGGTAACTTTTTT 0.348 NA 3 13 0.004672 0.00484087 0.004672 1 0 KRAS 3845 broad.mit.edu 37 12 25398285 25398285 + Missense_Mutation SNP C C A rs121913530 TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr12:25398285C>A uc001rgp.1 - 2 215 c.34G>T c.(34-36)GGT>TGT p.G12C KRAS_uc001rgq.1_Missense_Mutation_p.G12C|KRAS_uc001rgr.2_RNA NM_033360 NP_203524 P01116 RASK_HUMAN c-K-ras2 protein isoform a precursor 12 GTP. G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction plasma membrane GTP binding|GTPase activity|protein binding p.G12D(7175)|p.G12V(4780)|p.G12C(2482)|p.G12A(1180)|p.G12S(1119)|p.G12R(691)|p.G12?(50)|p.G12F(34)|p.G12G(6)|p.G12N(6)|p.G12L(5)|p.G12I(4)|p.G12_G13insG(4)|p.G12E(3)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12fs*3(1) large_intestine(12391)|pancreas(3285)|lung(2847)|biliary_tract(521)|ovary(443)|endometrium(339)|haematopoietic_and_lymphoid_tissue(318)|stomach(203)|thyroid(149)|prostate(85)|soft_tissue(77)|small_intestine(62)|upper_aerodigestive_tract(59)|cervix(49)|urinary_tract(48)|skin(38)|liver(31)|breast(28)|testis(17)|oesophagus(15)|central_nervous_system(9)|peritoneum(6)|salivary_gland(6)|kidney(5)|gastrointestinal_tract_(site_indeterminate)(5)|thymus(5)|eye(4)|autonomic_ganglia(2)|bone(2)|genital_tract(1)|penis(1)|adrenal_gland(1) 21052 all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12) OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05) CCTACGCCACCAGCTCCAACT 0.348 Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869) G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12C(CALU1_LUNG)|G12C(NCIH2030_LUNG)|G12C(LU99_LUNG)|G12C(NCIH1792_LUNG)|G12R(KP2_PANCREAS)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(NCIH2122_LUNG)|G12C(NCIH358_LUNG)|G12R(PSN1_PANCREAS)|G12C(KYSE410_OESOPHAGUS)|G12S(A549_LUNG)|G12R(HUPT3_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12C(HCC44_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(SW1463_LARGE_INTESTINE)|G12C(NCIH23_LUNG)|G12C(LU65_LUNG)|G12C(NCIH1373_LUNG)|G12C(MIAPACA2_PANCREAS)|G12R(HS274T_BREAST)|G12S(LS123_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(OV56_OVARY)|G12C(IALM_LUNG) 119 Mis pancreatic|colorectal|lung|thyroid|AML|others Cardiofaciocutaneous_syndrome|Noonan_syndrome TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6) 8 6 0.000673444 0.000722447 0.008291 1 0 ALG10 84920 broad.mit.edu 37 12 34179612 34179612 + Missense_Mutation SNP G G T TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr12:34179612G>T uc001rlm.2 + 3 1503 c.1184G>T c.(1183-1185)TGG>TTG p.W395L NM_032834 NP_116223 Q5BKT4 AG10A_HUMAN asparagine-linked glycosylation 10 homolog 395 Helical; (Potential). dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane|integral to membrane dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity skin(1) 1 Lung NSC(5;3.82e-05)|Acute lymphoblastic leukemia(23;0.0142)|all_hematologic(23;0.0429) Lung NSC(34;0.204)|all_lung(34;0.235) TCAATTTTTTGGAATTTAATG 0.303 NA 17 51 5.35267e-07 6.39346e-07 0.007413 1 0 MLL2 8085 broad.mit.edu 37 12 49447314 49447314 + Missense_Mutation SNP C C A TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr12:49447314C>A uc001rta.3 - 6 784 c.784G>T c.(784-786)GCC>TCC p.A262S NM_003482 NP_003473 O14686 MLL2_HUMAN myeloid/lymphoid or mixed-lineage leukemia 2 262 Cys-rich.|PHD-type 1.|RING-type 1; atypical. chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent histone methyltransferase complex histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2) 41 CGTTTGCGGGCAGTCAGAGCA 0.582 NA N|F|Mis medulloblastoma|renal HNSCC(34;0.089) 5 8 0.000602214 0.000650089 0.000602 1 0 OR9K2 441639 broad.mit.edu 37 12 55523560 55523560 + Missense_Mutation SNP G G T TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr12:55523560G>T uc010spe.1 + 1 8 c.8G>T c.(7-9)GGA>GTA p.G3V NM_001005243 NP_001005243 Q8NGE7 OR9K2_HUMAN olfactory receptor, family 9, subfamily K, 3 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|pancreas(1) 2 GTAATGCTAGGATCCAAACCA 0.333 NA 12 46 0.00010058 0.000111133 0.013537 1 0 FAM19A2 338811 broad.mit.edu 37 12 62148676 62148676 + Missense_Mutation SNP C C A TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr12:62148676C>A uc001sqw.2 - 3 1749 c.236G>T c.(235-237)CGA>CTA p.R79L FAM19A2_uc001sqv.2_RNA|FAM19A2_uc001sqx.2_Missense_Mutation_p.R79L|FAM19A2_uc001sqy.2_RNA NM_178539 NP_848634 Q8N3H0 F19A2_HUMAN family with sequence similarity 19 (chemokine 79 cytoplasm ovary(1) 1 GBM - Glioblastoma multiforme(1;0.00484) GBM - Glioblastoma multiforme(3;0.02) TGGAGCAGCTCGCGTGGTGCC 0.502 NA 8 42 0.000442599 0.000480803 0.006214 1 0 PPFIA2 8499 broad.mit.edu 37 12 81741445 81741445 + Missense_Mutation SNP G G T TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr12:81741445G>T uc001szo.1 - 18 2260 c.2099C>A c.(2098-2100)CCA>CAA p.P700Q PPFIA2_uc010sue.1_Intron|PPFIA2_uc010sug.1_RNA|PPFIA2_uc010suh.1_RNA|PPFIA2_uc010sui.1_RNA|PPFIA2_uc010suj.1_RNA|PPFIA2_uc009zsi.1_RNA|PPFIA2_uc010suf.1_RNA|PPFIA2_uc009zsh.2_RNA NM_003625 NP_003616 B7Z663 B7Z663_HUMAN PTPRF interacting protein alpha 2 626 ovary(3)|lung(2)|pancreas(1) 6 GGAGGTACCTGGGTGGACCCT 0.512 NA 30 104 8.16721e-17 1.3007e-16 0.010818 1 0 C12orf12 196477 broad.mit.edu 37 12 91348430 91348430 + Silent SNP G G C TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr12:91348430G>C uc001tbj.2 - 1 524 c.90C>G c.(88-90)GCC>GCG p.A30A NM_152638 NP_689851 Q8TC90 CL012_HUMAN hypothetical protein LOC196477 30 central_nervous_system(1)|pancreas(1) 2 AGCTCAAGGAGGCCGAGTGTG 0.512 NA 5 11 0 0 0.000602 0 0 LUM 4060 broad.mit.edu 37 12 91502420 91502420 + Missense_Mutation SNP A A T TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr12:91502420A>T uc001tbm.2 - 2 726 c.337T>A c.(337-339)TCT>ACT p.S113T LUM_uc001tbn.2_Intron NM_002345 NP_002336 P51884 LUM_HUMAN lumican precursor 113 LRR 2. collagen fibril organization|visual perception extracellular space|fibrillar collagen collagen binding|extracellular matrix structural constituent central_nervous_system(2) 2 TTCAATTTAGAGAAAACTCTC 0.418 NA 11 31 0 0 0.008291 0 0 CMKLR1 1240 broad.mit.edu 37 12 108686252 108686252 + Missense_Mutation SNP A A T TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr12:108686252A>T uc009zuw.2 - 3 679 c.488T>A c.(487-489)ATC>AAC p.I163N CMKLR1_uc001tmw.2_Missense_Mutation_p.I163N|CMKLR1_uc001tmv.2_Missense_Mutation_p.I161N|CMKLR1_uc009zuv.2_Missense_Mutation_p.I163N NM_001142345 NP_001135817 Q99788 CML1_HUMAN chemokine-like receptor 1 isoform a 163 Helical; Name=4; (Potential). chemotaxis|immune response|negative regulation of interleukin-12 production|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage chemotaxis|regulation of calcium-mediated signaling|skeletal system development integral to plasma membrane chemokine receptor activity lung(3)|ovary(1)|pancreas(1) 5 CAGGACCCAGATGACCATGCA 0.562 NA 21 62 0 0 0.014323 0 0 CUX2 23316 broad.mit.edu 37 12 111748436 111748436 + Missense_Mutation SNP C C T TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr12:111748436C>T uc001tsa.1 + 15 2003 c.1850C>T c.(1849-1851)TCG>TTG p.S617L NM_015267 NP_056082 O14529 CUX2_HUMAN cut-like 2 617 CUT 1. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(3)|skin(2)|breast(1) 6 CAGTTCCTGTCGGATGAGCAG 0.637 NA 10 38 0 0 0.006214 0 0 TBX5 6910 broad.mit.edu 37 12 114841655 114841655 + Missense_Mutation SNP G G T TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr12:114841655G>T uc001tvo.2 - 2 544 c.49C>A c.(49-51)CCT>ACT p.P17T TBX5_uc001tvp.2_Missense_Mutation_p.P17T|TBX5_uc001tvq.2_Intron|TBX5_uc010syv.1_Missense_Mutation_p.P17T NM_181486 NP_852259 Q99593 TBX5_HUMAN T-box 5 isoform 1 17 GFGLAHTPLEPDAKDLPCDSKPESALGAPSKSPSSPQAAFT QQ -> ALAGAHLWSLTQKTCLRFEPRARSGPPASPPGRPR SRLHPA (in Ref. 1; CAA70592). cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development cytoplasm|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding ovary(6)|pancreas(1)|skin(1) 8 Medulloblastoma(191;0.163)|all_neural(191;0.178) BRCA - Breast invasive adenocarcinoma(302;0.0893) TTTGCGTCAGGCTCCAGAGGC 0.687 NSCLC(152;1358 1980 4050 23898 40356) NA 9 27 2.17888e-05 2.47099e-05 0.006214 1 0 MED13L 23389 broad.mit.edu 37 12 116534519 116534519 + Missense_Mutation SNP C C A TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr12:116534519C>A uc001tvw.2 - 4 489 c.434G>T c.(433-435)TGG>TTG p.W145L NM_015335 NP_056150 Q71F56 MD13L_HUMAN mediator complex subunit 13-like 145 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent skin(4)|ovary(2)|upper_aerodigestive_tract(1)|lung(1) 8 all_neural(191;0.117)|Medulloblastoma(191;0.163) BRCA - Breast invasive adenocarcinoma(302;0.0407) TCGGACAAACCATTTCCCAAT 0.388 NA 14 44 9.16793e-09 1.16519e-08 0.00499 1 0 PEBP1 5037 broad.mit.edu 37 12 118575880 118575880 + Missense_Mutation SNP C C G TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr12:118575880C>G uc001twu.1 + 2 317 c.172C>G c.(172-174)CTT>GTT p.L58V PEBP1_uc010szc.1_Missense_Mutation_p.L58V NM_002567 NP_002558 P30086 PEBP1_HUMAN prostatic binding protein 58 ATP binding|phosphatidylethanolamine binding|serine-type endopeptidase inhibitor activity p.L58V(1) ovary(1) 1 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) GTGGGATGGTCTTGATTCAGG 0.448 NSCLC(44;94 1357 12187 49467) NA Direct_reversal_of_damage 3 26 0 0 0.004672 0 0 TAOK3 51347 broad.mit.edu 37 12 118610414 118610414 + Missense_Mutation SNP A A G TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr12:118610414A>G uc001twx.2 - 17 2042 c.1747T>C c.(1747-1749)TCC>CCC p.S583P TAOK3_uc001twv.2_Missense_Mutation_p.S123P|TAOK3_uc001tww.2_Missense_Mutation_p.S413P|TAOK3_uc001twy.3_Missense_Mutation_p.S583P NM_016281 NP_057365 Q9H2K8 TAOK3_HUMAN TAO kinase 3 583 Potential. MAPKKK cascade|negative regulation of JNK cascade|positive regulation of JNK cascade|protein autophosphorylation mitochondrion|plasma membrane ATP binding|protein kinase inhibitor activity|protein serine/threonine kinase activity lung(5)|central_nervous_system(1) 6 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) TTATGTTTGGAGATCCGCTCT 0.433 NA 39 118 0 0 0.011902 0 0 GCN1L1 10985 broad.mit.edu 37 12 120569106 120569106 + Silent SNP C C T TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr12:120569106C>T uc001txo.2 - 55 7459 c.7446G>A c.(7444-7446)CGG>CGA p.R2482R NM_006836 NP_006827 Q92616 GCN1L_HUMAN GCN1 general control of amino-acid synthesis 2482 regulation of translation ribosome protein binding|translation factor activity, nucleic acid binding ovary(4) 4 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) TCCGCCCGTGCCGAACCATCC 0.572 NA 3 81 0 0 0.000602 0 0 PITPNM2 57605 broad.mit.edu 37 12 123474421 123474421 + Missense_Mutation SNP T T G TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr12:123474421T>G uc001uej.1 - 17 2783 c.2644A>C c.(2644-2646)ACC>CCC p.T882P PITPNM2_uc001uek.1_Intron NM_020845 NP_065896 Q9BZ72 PITM2_HUMAN phosphatidylinositol transfer protein, 882 DDHD. metabolic process|transport endomembrane system|integral to membrane|intracellular membrane-bounded organelle calcium ion binding|lipid binding ovary(1)|central_nervous_system(1)|skin(1) 3 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123) CCAGGGGTGGTGGGGCTGGGG 0.687 NA 8 23 0 0 0.006214 0 0 SBNO1 55206 broad.mit.edu 37 12 123780484 123780484 + Nonsense_Mutation SNP G G A TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr12:123780484G>A uc010tap.1 - 31 4153 c.4153C>T c.(4153-4155)CAG>TAG p.Q1385* SBNO1_uc009zxv.2_RNA|SBNO1_uc010tao.1_Nonsense_Mutation_p.Q1384*|SBNO1_uc010taq.1_Nonsense_Mutation_p.Q336* NM_018183 NP_060653 A3KN83 SBNO1_HUMAN sno, strawberry notch homolog 1 1385 ATP binding|DNA binding|hydrolase activity breast(5)|skin(2)|ovary(1)|kidney(1) 9 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197) GTGATGCTCTGAGGGTGATGC 0.443 NA 32 227 0 0 0.013726 0 0 MMP17 4326 broad.mit.edu 37 12 132325149 132325149 + Missense_Mutation SNP G G T TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr12:132325149G>T uc001ujc.1 + 4 553 c.454G>T c.(454-456)GGG>TGG p.G152W MMP17_uc001ujd.1_Missense_Mutation_p.G68W NM_016155 NP_057239 Q9ULZ9 MMP17_HUMAN matrix metalloproteinase 17 preproprotein 152 proteolysis anchored to membrane|integral to plasma membrane|proteinaceous extracellular matrix calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding 0 all_neural(191;0.0982)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.82e-07)|Epithelial(86;1.51e-06)|all cancers(50;2.35e-05) CTCACCACTGGGGCACGACAC 0.667 NA 29 68 5.8336e-16 9.14936e-16 0.003271 1 0 KIAA0564 23078 broad.mit.edu 37 13 42295619 42295619 + Missense_Mutation SNP T T C TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr13:42295619T>C uc001uyj.2 - 25 2921 c.2851A>G c.(2851-2853)ATC>GTC p.I951V KIAA0564_uc001uyk.2_Missense_Mutation_p.I951V NM_015058 NP_055873 A3KMH1 K0564_HUMAN hypothetical protein LOC23078 isoform a 951 extracellular region ATP binding|ATPase activity ovary(3)|upper_aerodigestive_tract(1)|kidney(1)|skin(1) 6 Lung NSC(96;4.61e-06)|Prostate(109;0.0167)|Lung SC(185;0.0262)|Breast(139;0.0854)|Hepatocellular(98;0.114) OV - Ovarian serous cystadenocarcinoma(117;0.000368)|GBM - Glioblastoma multiforme(144;0.0033)|BRCA - Breast invasive adenocarcinoma(63;0.0969) TTCTGAAGGATGGGCTCAGGC 0.468 NA 24 37 0 0 0.003954 0 0 DGKH 160851 broad.mit.edu 37 13 42742644 42742644 + Missense_Mutation SNP G G T TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr13:42742644G>T uc001uyl.1 + 10 1208 c.1187G>T c.(1186-1188)TGG>TTG p.W396L DGKH_uc010tfh.1_Missense_Mutation_p.W396L|DGKH_uc001uym.1_Missense_Mutation_p.W396L|DGKH_uc010tfi.1_Missense_Mutation_p.W151L|DGKH_uc010tfj.1_Missense_Mutation_p.W251L|DGKH_uc001uyn.1_RNA|DGKH_uc001uyo.1_Missense_Mutation_p.W251L|DGKH_uc001uyp.2_RNA NM_178009 NP_821077 Q86XP1 DGKH_HUMAN diacylglycerol kinase, eta isoform 2 396 DAGKc. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation|protein oligomerization endosome|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding ovary(2) 2 Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114) OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109) AGTGTAGGTTGGGTTTTGTCA 0.333 NA 7 16 0.00010058 0.000111133 0.013537 1 0 SPERT 220082 broad.mit.edu 37 13 46288187 46288187 + Missense_Mutation SNP G G A TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr13:46288187G>A uc001van.1 + 3 1107 c.1027G>A c.(1027-1029)GCC>ACC p.A343T SPERT_uc001vao.2_Missense_Mutation_p.A307T NM_152719 NP_689932 Q8NA61 SPERT_HUMAN spermatid associated 343 cytoplasmic membrane-bounded vesicle central_nervous_system(1)|pancreas(1) 2 Breast(56;0.000819)|Lung NSC(96;0.00227)|Prostate(109;0.00703)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;7.26e-05) GGAGGAGGAGGCCAAGGTGGG 0.711 NA 3 4 0 0 0.009096 0 0 KPNA3 3839 broad.mit.edu 37 13 50276609 50276609 + Silent SNP C C T TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr13:50276609C>T uc001vdj.2 - 16 1795 c.1380G>A c.(1378-1380)GAG>GAA p.E460E NM_002267 NP_002258 O00505 IMA3_HUMAN karyopherin alpha 3 460 ARM 10; atypical. interspecies interaction between organisms|NLS-bearing substrate import into nucleus|protein complex assembly cytoplasm|nuclear pore nuclear localization sequence binding|protein transporter activity 0 Lung NSC(96;2.46e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19) GBM - Glioblastoma multiforme(99;1.42e-09) CTTCAATTTTCTCCAAACCTG 0.279 NA 4 12 0 0 0.000602 0 0 CKAP2 26586 broad.mit.edu 37 13 53039580 53039580 + Missense_Mutation SNP G G A TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr13:53039580G>A uc001vgv.2 + 6 1656 c.1459G>A c.(1459-1461)GCC>ACC p.A487T CKAP2_uc001vgt.2_Missense_Mutation_p.A486T|CKAP2_uc001vgu.2_Missense_Mutation_p.A486T|CKAP2_uc010tha.1_Missense_Mutation_p.A438T NM_001098525 NP_001091995 Q8WWK9 CKAP2_HUMAN cytoskeleton associated protein 2 isoform 2 487 apoptosis|cell cycle centrosome|microtubule|spindle pole ovary(1)|skin(1) 2 Breast(56;0.000207)|Lung NSC(96;0.00212)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173) GBM - Glioblastoma multiforme(99;2.6e-08) CTATGAGAAAGCCATTCTGGC 0.328 NA 7 25 0 0 0.001984 0 0 RNASE12 493901 broad.mit.edu 37 14 21058461 21058461 + Missense_Mutation SNP C C G TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr14:21058461C>G uc001vxt.2 - 1 522 c.422G>C c.(421-423)AGT>ACT p.S141T RNASE11_uc010ahv.2_5'Flank|RNASE11_uc010ahx.2_5'Flank|RNASE11_uc010ahw.2_5'Flank|RNASE11_uc001vxs.2_5'Flank|uc001vxu.1_5'Flank NM_001024822 NP_001019993 Q5GAN4 RNS12_HUMAN ribonuclease, RNase A family, 12 (non-active) 141 extracellular region nucleic acid binding|pancreatic ribonuclease activity upper_aerodigestive_tract(1)|ovary(1) 2 all_cancers(95;0.00238) Epithelial(56;1.85e-06)|all cancers(55;1.46e-05) GBM - Glioblastoma multiforme(265;0.013) GCCAAGGAAACTATCTGGCCT 0.502 NA 15 14 0 0 0.003163 0 0 LRRC16B 90668 broad.mit.edu 37 14 24538031 24538031 + Missense_Mutation SNP C C A TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr14:24538031C>A uc001wlj.2 + 38 3995 c.3838C>A c.(3838-3840)CCA>ACA p.P1280T LRRC16B_uc001wlk.2_Missense_Mutation_p.P333T|CPNE6_uc010tnv.1_5'Flank|CPNE6_uc001wlm.2_5'Flank|CPNE6_uc001wll.2_5'Flank NM_138360 NP_612369 Q8ND23 LR16B_HUMAN leucine rich repeat containing 16B 1280 ovary(2)|breast(2)|pancreas(1) 5 GBM - Glioblastoma multiforme(265;0.019) GCCTCCCAAGCCAGTGGCTGT 0.642 NA 12 13 1.05317e-09 1.38632e-09 0.00245 1 0 PRKD1 5587 broad.mit.edu 37 14 30047522 30047522 + Missense_Mutation SNP G G A TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr14:30047522G>A uc001wqh.2 - 17 2660 c.2479C>T c.(2479-2481)CGC>TGC p.R827C NM_002742 NP_002733 Q15139 KPCD1_HUMAN protein kinase D1 827 Protein kinase. cell proliferation|intracellular signal transduction|sphingolipid metabolic process cytosol|integral to plasma membrane ATP binding|metal ion binding|protein binding|protein kinase C activity lung(3)|large_intestine(2)|ovary(2)|skin(1) 8 Hepatocellular(127;0.0604) LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252) GBM - Glioblastoma multiforme(265;0.00888) ACACTGTAGCGCTTTCTCATT 0.328 NA 5 9 0 0 0.001984 0 0 NIN 51199 broad.mit.edu 37 14 51226934 51226934 + Missense_Mutation SNP C C G TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr14:51226934C>G uc001wym.2 - 17 2231 c.2040G>C c.(2038-2040)CAG>CAC p.Q680H NIN_uc001wyi.2_Missense_Mutation_p.Q680H|NIN_uc001wyj.2_RNA|NIN_uc001wyk.2_Missense_Mutation_p.Q680H|NIN_uc010tqp.1_Missense_Mutation_p.Q686H|NIN_uc001wyo.2_Missense_Mutation_p.Q680H NM_182946 NP_891991 Q8N4C6 NIN_HUMAN ninein isoform 5 680 Potential. centrosome localization centrosome|microtubule calcium ion binding|GTP binding|protein binding skin(3)|ovary(1)|kidney(1)|central_nervous_system(1) 6 all_epithelial(31;0.00244)|Breast(41;0.127) CTGCTTGCCCCTGAAGTTCAG 0.458 NA T PDGFRB MPD 31 55 0 0 0.013726 0 0 PELI2 57161 broad.mit.edu 37 14 56585389 56585389 + Missense_Mutation SNP C C G TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr14:56585389C>G uc001xch.2 + 1 297 c.11C>G c.(10-12)CCT>CGT p.P4R NM_021255 NP_067078 Q9HAT8 PELI2_HUMAN pellino 2 4 innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of protein phosphorylation|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway cytosol protein binding ovary(1) 1 ATGTTTTCCCCTGGCCAGGAG 0.552 NA 3 5 0 0 0.004672 0 0 SYNE2 23224 broad.mit.edu 37 14 64675542 64675542 + Missense_Mutation SNP C C G TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr14:64675542C>G uc001xgm.2 + 101 18498 c.18268C>G c.(18268-18270)CTA>GTA p.L6090V SYNE2_uc001xgl.2_Missense_Mutation_p.L6090V|SYNE2_uc010apy.2_Missense_Mutation_p.L2475V|SYNE2_uc001xgn.2_Missense_Mutation_p.L1052V|SYNE2_uc001xgo.2_RNA|SYNE2_uc010aqa.2_Missense_Mutation_p.L60V|SYNE2_uc001xgq.2_Missense_Mutation_p.L455V|SYNE2_uc001xgr.2_5'Flank NM_015180 NP_055995 Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 6090 Cytoplasmic (Potential).|Spectrin 6. centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc actin binding|protein binding ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1) 14 all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681) CTGTGACGTCCTACTGCACGA 0.512 NA 31 52 0 0 0.003271 0 0 ESRRB 2103 broad.mit.edu 37 14 76906004 76906004 + Missense_Mutation SNP G G T TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr14:76906004G>T uc001xsq.1 + 2 375 c.308G>T c.(307-309)TGC>TTC p.C103F ESRRB_uc001xsr.2_Missense_Mutation_p.C103F|ESRRB_uc001xso.2_RNA NM_004452 NP_004443 A2VDJ2 A2VDJ2_HUMAN estrogen-related receptor beta 103 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding ovary(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(234;0.0213) AAGCGCCTGTGCCTCGTGTGC 0.617 NA 8 23 1.06961e-07 1.30787e-07 0.00308 1 0 VASH1 22846 broad.mit.edu 37 14 77242564 77242564 + Missense_Mutation SNP G G A TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr14:77242564G>A uc001xst.2 + 5 1790 c.860G>A c.(859-861)CGC>CAC p.R287H NM_014909 NP_055724 Q7L8A9 VASH1_HUMAN vasohibin 1 287 cell cycle arrest|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of endothelial cell proliferation endoplasmic reticulum|extracellular space 0 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0283) CGCCTGGGCCGCGATGACTTC 0.557 NA 3 20 0 0 0.009096 0 0 POMT2 29954 broad.mit.edu 37 14 77772688 77772688 + Missense_Mutation SNP T T A TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr14:77772688T>A uc001xti.2 - 3 631 c.430A>T c.(430-432)ATG>TTG p.M144L POMT2_uc010asr.2_Missense_Mutation_p.M33L NM_013382 NP_037514 Q9UKY4 POMT2_HUMAN protein-O-mannosyltransferase 2 144 protein O-linked glycosylation endoplasmic reticulum membrane|integral to membrane dolichyl-phosphate-mannose-protein mannosyltransferase activity|metal ion binding ovary(1) 1 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0292) ACTCCTCTCATTCCCATGTAG 0.488 NA 8 30 0 0 0.006214 0 0 TTC7B 145567 broad.mit.edu 37 14 91196419 91196420 + Missense_Mutation DNP CC CC AA TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 CC CC - - CC CC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr14:91196419_91196420CC>AA uc001xyp.2 - 5 819_820 c.697_698GG>TT c.(697-699)GGG>TTG p.G233L NM_001010854 NP_001010854 Q86TV6 TTC7B_HUMAN tetratricopeptide repeat domain 7B 233 TPR 2. binding ovary(2) 2 Melanoma(154;0.222) GATGGCTTACCCATTTTTGAAA 0.386 NA 24 41 0 0 0.004672 0 0 BCL11B 64919 broad.mit.edu 37 14 99642443 99642443 + Missense_Mutation SNP G G T TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr14:99642443G>T uc001yga.2 - 4 997 c.730C>A c.(730-732)CAC>AAC p.H244N BCL11B_uc001ygb.2_Missense_Mutation_p.H173N NM_138576 NP_612808 Q9C0K0 BC11B_HUMAN B-cell CLL/lymphoma 11B isoform 1 244 C2H2-type 1. nucleus zinc ion binding central_nervous_system(8)|large_intestine(1)|lung(1) 10 Melanoma(154;0.0866)|all_epithelial(191;0.241) COAD - Colon adenocarcinoma(157;0.103) CGGAAGCCGTGCGTGTTCTGC 0.662 NA T TLX3 T-ALL 5 23 3.59834e-05 4.0718e-05 0.001168 1 0 CYFIP1 23191 broad.mit.edu 37 15 22969346 22969346 + Missense_Mutation SNP A A T TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr15:22969346A>T uc001yus.2 + 22 2676 c.2572A>T c.(2572-2574)AAC>TAC p.N858Y CYFIP1_uc001yut.2_Missense_Mutation_p.N858Y|CYFIP1_uc010aya.1_Missense_Mutation_p.N886Y|CYFIP1_uc001yuu.2_Missense_Mutation_p.N427Y|CYFIP1_uc001yuv.2_Missense_Mutation_p.N52Y NM_014608 NP_055423 Q7L576 CYFP1_HUMAN cytoplasmic FMR1 interacting protein 1 isoform 858 axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome actin filament binding|Rac GTPase binding ovary(4)|pancreas(3)|liver(1)|skin(1) 9 all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488) all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101) CTACTGCTACAACGGCTCTAC 0.637 NA 27 65 0 0 0.012213 0 0 MEIS2 4212 broad.mit.edu 37 15 37187382 37187382 + Missense_Mutation SNP C C A TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr15:37187382C>A uc001zjr.2 - 11 2154 c.1117G>T c.(1117-1119)GGT>TGT p.G373C MEIS2_uc001zjl.2_Missense_Mutation_p.G360C|MEIS2_uc010ucj.1_Missense_Mutation_p.G353C|MEIS2_uc001zjm.2_Missense_Mutation_p.G278C|MEIS2_uc001zjn.2_Missense_Mutation_p.G227C|MEIS2_uc001zjo.2_Missense_Mutation_p.G373C|MEIS2_uc001zjp.2_Missense_Mutation_p.G366C|MEIS2_uc001zjs.2_Missense_Mutation_p.G366C|MEIS2_uc001zju.2_Missense_Mutation_p.G353C|MEIS2_uc001zjt.2_Missense_Mutation_p.G366C|MEIS2_uc001zjj.2_Missense_Mutation_p.G69C|MEIS2_uc001zjk.2_Missense_Mutation_p.G62C NM_170675 NP_733775 O14770 MEIS2_HUMAN Meis homeobox 2 isoform c 373 negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity ovary(2) 2 all_epithelial(112;9.77e-14)|Lung NSC(122;1.42e-09)|all_lung(180;2.2e-08)|Ovarian(310;0.134)|Melanoma(134;0.155) all cancers(64;9.33e-21)|GBM - Glioblastoma multiforme(113;1.71e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0288) TGTTGCTGACCATCCAACACA 0.572 NA 32 93 2.51541e-25 4.34098e-25 0.004878 1 0 CAPN3 825 broad.mit.edu 37 15 42676714 42676714 + Nonsense_Mutation SNP G G T TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr15:42676714G>T uc001zpn.1 + 2 649 c.343G>T c.(343-345)GGA>TGA p.G115* CAPN3_uc001zpk.1_5'UTR|CAPN3_uc001zpl.1_Nonsense_Mutation_p.G28*|CAPN3_uc010udf.1_Nonsense_Mutation_p.G28*|CAPN3_uc010udg.1_Nonsense_Mutation_p.G28*|CAPN3_uc001zpo.1_Nonsense_Mutation_p.G115*|CAPN3_uc001zpp.1_Nonsense_Mutation_p.G115* NM_000070 NP_000061 P20807 CAN3_HUMAN calpain 3 isoform a 115 Calpain catalytic. muscle organ development|proteolysis cytoplasm calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|signal transducer activity central_nervous_system(1) 1 all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152) GBM - Glioblastoma multiforme(94;7.36e-07) TATCATTGATGGAGCCAACAG 0.388 NA 16 37 3.32936e-07 3.99523e-07 0.006122 1 0 RASL12 51285 broad.mit.edu 37 15 65357604 65357604 + Silent SNP G G A TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr15:65357604G>A uc002aoi.1 - 2 326 c.111C>T c.(109-111)ACC>ACT p.T37T RASL12_uc002aoj.1_Intron|RASL12_uc010uir.1_Silent_p.T26T NM_016563 NP_057647 Q9NYN1 RASLC_HUMAN RAS-like, family 12 protein 37 small GTPase mediated signal transduction membrane GTP binding|GTPase activity skin(1) 1 GAAACTTCACGGTCAGGGCTG 0.532 NA 3 15 0 0 0.004672 0 0 C15orf44 81556 broad.mit.edu 37 15 65899529 65899529 + Missense_Mutation SNP C C T TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr15:65899529C>T uc002apd.2 - 2 526 c.190G>A c.(190-192)GTC>ATC p.V64I C15orf44_uc010uix.1_Missense_Mutation_p.V100I|C15orf44_uc010uiz.1_Missense_Mutation_p.V64I|C15orf44_uc010uja.1_Intron|C15orf44_uc010ujb.1_Intron|C15orf44_uc002ape.3_Missense_Mutation_p.V64I|C15orf44_uc010uiy.1_Intron|C15orf44_uc010ujc.1_Missense_Mutation_p.V64I NM_030800 NP_110427 Q96SY0 CO044_HUMAN hypothetical protein LOC81556 isoform 2 64 VWFA. ovary(1) 1 GTGAAGGGGACCATCAACTCC 0.388 NA 9 23 0 0 0.010729 0 0 CHRNB4 1143 broad.mit.edu 37 15 78921882 78921882 + Nonsense_Mutation SNP G G T TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr15:78921882G>T uc002bed.1 - 5 877 c.765C>A c.(763-765)TAC>TAA p.Y255* CHRNB4_uc002bee.1_Intron|CHRNB4_uc010blh.1_Nonsense_Mutation_p.Y73* NM_000750 NP_000741 P30926 ACHB4_HUMAN cholinergic receptor, nicotinic, beta 4 255 Helical; (Potential). regulation of neurotransmitter secretion|synaptic transmission involved in micturition|synaptic transmission, cholinergic cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity 0 CGGATGGCAGGTAGAAGACGA 0.547 NA 26 87 9.57634e-11 1.31071e-10 0.00333 1 0 BNC1 646 broad.mit.edu 37 15 83926689 83926689 + Silent SNP C C A TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr15:83926689C>A uc002bjt.1 - 5 2578 c.2490G>T c.(2488-2490)CTG>CTT p.L830L BNC1_uc010uos.1_Silent_p.L818L NM_001717 NP_001708 Q01954 BNC1_HUMAN basonuclin 1 830 epidermis development|positive regulation of cell proliferation cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(3) 3 TTGGGTAAACCAGACTGCCCA 0.517 NA 21 73 1.42536e-11 2.00952e-11 0.004656 1 0 Unknown 0 broad.mit.edu 37 15 102291827 102291827 + Missense_Mutation SNP G G T TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr15:102291827G>T uc010usj.1 + 3 194 c.135G>T c.(133-135)CAG>CAT p.Q45H uc002bxp.3_5'Flank|uc002bxt.2_5'Flank|uc002bxz.3_5'Flank|uc002byd.2_5'Flank RecName: Full=Uncharacterized protein C15orf51.; Flags: Fragment; NA AAACCACCCAGAACCTGGTGG 0.537 NA 11 37 2.32078e-09 3.01644e-09 0.003163 1 0 Unknown 0 broad.mit.edu 37 15 102292820 102292820 + Silent SNP G G C TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr15:102292820G>C uc010usj.1 + 4 467 c.408G>C c.(406-408)ACG>ACC p.T136T uc002bxo.2_RNA|uc002bxp.3_5'Flank|uc002bxt.2_5'Flank|uc002bxz.3_5'Flank|uc002byd.2_5'Flank|uc002bye.2_5'Flank|uc002byf.1_5'Flank|uc002byg.2_5'Flank|uc002byi.2_5'Flank|uc002byk.2_5'Flank|uc002bym.2_5'Flank|uc002byn.2_5'Flank|uc010usm.1_5'Flank|uc002byr.2_5'Flank RecName: Full=Uncharacterized protein C15orf51.; Flags: Fragment; NA GCGTGGGAACGAGAAGACACT 0.592 NA 3 21 0 0 0.000602 0 0 RAB40C 57799 broad.mit.edu 37 16 640413 640413 + Missense_Mutation SNP C C T TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr16:640413C>T uc002chr.2 + 1 238 c.122C>T c.(121-123)TCC>TTC p.S41F RAB40C_uc002chq.2_Missense_Mutation_p.S41F NM_021168 NP_066991 Q96S21 RB40C_HUMAN RAB40C, member RAS oncogene family 41 protein transport|small GTPase mediated signal transduction plasma membrane GTP binding 0 Hepatocellular(780;0.0218) GCGGCAGAGTCCCCGTACGCC 0.612 Melanoma(123;1631 1690 28262 44104 44957) NA 4 22 0 0 0.009096 0 0 GNG13 51764 broad.mit.edu 37 16 849032 849033 + Missense_Mutation DNP GG GG TT TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 GG GG - - GG GG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr16:849032_849033GG>TT uc002ckh.3 - 2 147_148 c.45_46CC>AA c.(43-48)AGCCTC>AGAATC p.15_16SL>RI NM_016541 NP_057625 Q9P2W3 GBG13_HUMAN guanine nucleotide binding protein (G protein), 15_16 cellular response to glucagon stimulus|energy reserve metabolic process signal transducer activity 0 Hepatocellular(780;0.00335) TGGTACTTGAGGCTCTCCACCT 0.624 NA 12 28 0 0 0.004672 0 0 MLST8 64223 broad.mit.edu 37 16 2256185 2256185 + Silent SNP C C T TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr16:2256185C>T uc002coz.2 + 2 218 c.99C>T c.(97-99)ATC>ATT p.I33I MLST8_uc002coy.2_Silent_p.I33I|MLST8_uc002cpa.2_5'UTR|MLST8_uc002cpb.2_Silent_p.I33I|MLST8_uc010uvx.1_5'UTR|MLST8_uc002cpc.2_Silent_p.I33I|MLST8_uc002cpd.2_5'UTR|MLST8_uc002cpe.2_Silent_p.I33I|MLST8_uc010uvy.1_Silent_p.I33I|MLST8_uc002cpg.2_Silent_p.I52I|MLST8_uc002cph.2_RNA|MLST8_uc002cpf.2_Silent_p.I33I NM_022372 NP_071767 Q9BVC4 LST8_HUMAN G protein beta subunit-like 33 WD 1. insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|T cell costimulation cytosol protein binding 0 ACAGCGGCATCTGCACCCGGA 0.697 NA 25 51 0 0 0.005443 0 0 PPL 5493 broad.mit.edu 37 16 4934221 4934221 + Missense_Mutation SNP C C T TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr16:4934221C>T uc002cyd.1 - 22 4525 c.4435G>A c.(4435-4437)GAG>AAG p.E1479K NM_002705 NP_002696 O60437 PEPL_HUMAN periplakin 1479 Potential. keratinization cytoskeleton|desmosome|mitochondrion|nucleus protein binding|structural constituent of cytoskeleton ovary(4)|central_nervous_system(1)|skin(1) 6 GTCTCGAGCTCCCCCTCCAGG 0.657 NA 5 75 0 0 0.000602 0 0 PPL 5493 broad.mit.edu 37 16 4934286 4934286 + Missense_Mutation SNP C C T rs143676756 byFrequency TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr16:4934286C>T uc002cyd.1 - 22 4460 c.4370G>A c.(4369-4371)CGA>CAA p.R1457Q NM_002705 NP_002696 O60437 PEPL_HUMAN periplakin 1457 Potential. keratinization cytoskeleton|desmosome|mitochondrion|nucleus protein binding|structural constituent of cytoskeleton ovary(4)|central_nervous_system(1)|skin(1) 6 GGCATGCTCTCGCGCCTGCTG 0.662 NA 11 103 0 0 0.001855 0 0 PPL 5493 broad.mit.edu 37 16 4935596 4935596 + Silent SNP C C A TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr16:4935596C>A uc002cyd.1 - 22 3150 c.3060G>T c.(3058-3060)CTG>CTT p.L1020L NM_002705 NP_002696 O60437 PEPL_HUMAN periplakin 1020 Potential. keratinization cytoskeleton|desmosome|mitochondrion|nucleus protein binding|structural constituent of cytoskeleton ovary(4)|central_nervous_system(1)|skin(1) 6 TCTGCCGCCTCAGTGCCTCCA 0.687 NA 26 58 7.92952e-12 1.12408e-11 0.003954 1 0 GRIN2A 2903 broad.mit.edu 37 16 10274009 10274009 + Missense_Mutation SNP C C A TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr16:10274009C>A uc002czo.3 - 2 808 c.260G>T c.(259-261)TGC>TTC p.C87F GRIN2A_uc010uym.1_Missense_Mutation_p.C87F|GRIN2A_uc002czr.3_Missense_Mutation_p.C87F|GRIN2A_uc010buk.2_Missense_Mutation_p.C87F NM_001134407 NP_001127879 Q12879 NMDE1_HUMAN N-methyl-D-aspartate receptor subunit 2A isoform 87 Extracellular (Potential). response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding skin(32)|NS(5)|ovary(4)|large_intestine(1)|lung(1)|breast(1)|kidney(1) 45 Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) CATGAGGTCGCACACGTGCGT 0.657 NA 27 76 2.80507e-11 3.90139e-11 0.012213 1 0 MYH11 4629 broad.mit.edu 37 16 15850236 15850237 + Missense_Mutation DNP CC CC AA TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 CC CC - - CC CC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr16:15850236_15850237CC>AA uc002ddy.2 - 14 1817_1818 c.1710_1711GG>TT c.(1708-1713)AAGGAC>AATTAC p.570_571KD>NY MYH11_uc002ddv.2_Missense_Mutation_p.577_578KD>NY|MYH11_uc002ddw.2_Missense_Mutation_p.570_571KD>NY|MYH11_uc002ddx.2_Missense_Mutation_p.577_578KD>NY|MYH11_uc010bvg.2_Missense_Mutation_p.402_403KD>NY|MYH11_uc002dea.1_Missense_Mutation_p.276_277KD>NY NM_002474 NP_002465 P35749 MYH11_HUMAN smooth muscle myosin heavy chain 11 isoform 570_571 Myosin head-like. axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction cytosol|melanosome|muscle myosin complex|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle ovary(6)|skin(3)|lung(2)|breast(2)|upper_aerodigestive_tract(1)|pancreas(1) 15 TCAGTCTTGTCCTTGAGCTGCT 0.594 NA T CBFB AML OREG0023636 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 10 35 0 0 0.004672 0 0 SMG1 23049 broad.mit.edu 37 16 18849510 18849510 + Silent SNP C C A TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr16:18849510C>A uc002dfm.2 - 45 7602 c.7239G>T c.(7237-7239)CTG>CTT p.L2413L SMG1_uc010bwb.2_Silent_p.L2273L|SMG1_uc010bwa.2_Silent_p.L1144L NM_015092 NP_055907 Q96Q15 SMG1_HUMAN PI-3-kinase-related kinase SMG-1 2413 PI3K/PI4K. DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation cytoplasm|nucleus ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity breast(5)|stomach(4)|lung(4)|kidney(2)|ovary(1) 16 AGGCCTCCAGCAGCGTCAGCA 0.537 NA 4 14 0.00116845 0.00124057 0.001168 1 0 TMC7 79905 broad.mit.edu 37 16 19056725 19056725 + Missense_Mutation SNP C C G TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr16:19056725C>G uc002dfq.2 + 11 1648 c.1518C>G c.(1516-1518)ATC>ATG p.I506M TMC7_uc002dfp.2_Missense_Mutation_p.I506M|TMC7_uc010vap.1_Missense_Mutation_p.I396M NM_024847 NP_079123 Q7Z402 TMC7_HUMAN transmembrane channel-like 7 isoform a 506 Helical; (Potential). integral to membrane skin(2)|ovary(1) 3 TCATCATCATCTTGGCTGTGA 0.408 NA 9 58 0 0 0.010729 0 0 GP2 2813 broad.mit.edu 37 16 20327339 20327339 + Silent SNP G G C TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr16:20327339G>C uc002dgv.2 - 10 1532 c.1449C>G c.(1447-1449)CGC>CGG p.R483R GP2_uc002dgw.2_Silent_p.R480R|GP2_uc002dgx.2_Silent_p.R336R|GP2_uc002dgy.2_Silent_p.R333R NM_001007240 NP_001007241 P55259 GP2_HUMAN zymogen granule membrane glycoprotein 2 isoform 483 ZP. anchored to membrane|extracellular region|plasma membrane ovary(3)|skin(1) 4 GTACTTCACTGCGGACTTGAC 0.483 NA 24 61 0 0 0.005443 0 0 ACSM2A 123876 broad.mit.edu 37 16 20494388 20494388 + Silent SNP G G A TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr16:20494388G>A uc010bwe.2 + 14 1757 c.1518G>A c.(1516-1518)AAG>AAA p.K506K ACSM2A_uc002dhf.3_Silent_p.K506K|ACSM2A_uc002dhg.3_Silent_p.K506K|ACSM2A_uc010vay.1_Silent_p.K427K|ACSM2A_uc002dhh.3_Silent_p.K136K NM_001010845 NP_001010845 Q08AH3 ACS2A_HUMAN acyl-CoA synthetase medium-chain family member 506 fatty acid metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|metal ion binding skin(2)|breast(1) 3 AGGTGGTGAAGGCATTTGTGG 0.498 NA 41 93 0 0 0.013114 0 0 GTF3C1 2975 broad.mit.edu 37 16 27473778 27473778 + Missense_Mutation SNP C C A TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr16:27473778C>A uc002dov.1 - 36 5994 c.5954G>T c.(5953-5955)CGG>CTG p.R1985L GTF3C1_uc002dou.2_Missense_Mutation_p.R1960L NM_001520 NP_001511 Q12789 TF3C1_HUMAN general transcription factor IIIC, polypeptide 1985 transcription factor TFIIIC complex DNA binding|protein binding ovary(2)|pancreas(1)|breast(1)|skin(1) 5 ACGCCACGGCCGGCCGATGAA 0.612 NA 7 26 0.000157383 0.000172787 0.00308 1 0 MAPK3 5595 broad.mit.edu 37 16 30129733 30129733 + Silent SNP G G A TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr16:30129733G>A uc002dws.2 - 3 580 c.480C>T c.(478-480)GCC>GCT p.A160A uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|MAPK3_uc002dwr.2_Silent_p.A46A|MAPK3_uc002dwv.3_Silent_p.A160A|MAPK3_uc002dwt.2_Silent_p.A160A|MAPK3_uc002dwu.2_RNA|MAPK3_uc010bzp.2_RNA NM_002746 NP_002737 P27361 MK03_HUMAN mitogen-activated protein kinase 3 isoform 1 160 Protein kinase. activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle|cellular response to mechanical stimulus|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|interleukin-1-mediated signaling pathway|interspecies interaction between organisms|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter|Ras protein signal transduction|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription initiation from RNA polymerase I promoter cytosol|nucleoplasm ATP binding|MAP kinase activity|phosphatase binding 0 Arsenic trioxide(DB01169)|Isoproterenol(DB01064)|Simvastatin(DB00641)|Sulindac(DB00605) GGAGCACGTTGGCGGAGTGGA 0.567 NA 4 82 0 0 0.000602 0 0 ITGAL 3683 broad.mit.edu 37 16 30528393 30528393 + Missense_Mutation SNP T T A TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr16:30528393T>A uc002dyi.3 + 26 3138 c.2962T>A c.(2962-2964)TGG>AGG p.W988R ITGAL_uc002dyj.3_Missense_Mutation_p.W904R|ITGAL_uc010vev.1_Missense_Mutation_p.W222R NM_002209 NP_002200 P20701 ITAL_HUMAN integrin alpha L isoform a precursor 988 Extracellular (Potential). blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell integrin complex cell adhesion molecule binding|receptor activity ovary(3)|lung(3)|central_nervous_system(3)|breast(1) 10 Efalizumab(DB00095) CACACACCAGTGGAGCGTGCA 0.607 NSCLC(110;1462 1641 3311 33990 49495) NA 31 77 0 0 0.008361 0 0 ZNF423 23090 broad.mit.edu 37 16 49670231 49670231 + Silent SNP C C A TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr16:49670231C>A uc002efs.2 - 5 3130 c.2832G>T c.(2830-2832)GGG>GGT p.G944G ZNF423_uc010vgn.1_Silent_p.G827G NM_015069 NP_055884 Q2M1K9 ZN423_HUMAN zinc finger protein 423 944 C2H2-type 22. cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding ovary(1)|lung(1)|kidney(1)|pancreas(1) 4 all_cancers(37;0.0155) GCTCCCGTAGCCCGTTCTCCG 0.592 NA 18 41 0.00188189 0.00199395 0.012319 1 0 ADCY7 113 broad.mit.edu 37 16 50339437 50339437 + Missense_Mutation SNP C C T rs142217351 TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr16:50339437C>T uc002egd.1 + 12 1887 c.1619C>T c.(1618-1620)TCG>TTG p.S540L ADCY7_uc002egc.1_Missense_Mutation_p.S540L NM_001114 NP_001105 P51828 ADCY7_HUMAN adenylate cyclase 7 540 Cytoplasmic (Potential). activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to ethanol|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of cAMP biosynthetic process|synaptic transmission|transmembrane transport|water transport integral to membrane|plasma membrane adenylate cyclase activity|ATP binding|metal ion binding skin(1) 1 all_cancers(37;0.0127) GBM - Glioblastoma multiforme(240;0.195) Bromocriptine(DB01200) AAGGGGCGGTCGGAGGATGAC 0.597 NA 19 172 0 0 0.010504 0 0 FTO 79068 broad.mit.edu 37 16 53878094 53878094 + Missense_Mutation SNP C C G rs76762929 by1000genomes TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr16:53878094C>G uc002ehr.2 + 4 1001 c.779C>G c.(778-780)TCT>TGT p.S260C FTO_uc010vha.1_5'UTR NM_001080432 NP_001073901 Q9C0B1 FTO_HUMAN fat mass and obesity associated 260 Fe2OG dioxygenase domain. DNA dealkylation involved in DNA repair|oxidative single-stranded DNA demethylation|oxidative single-stranded RNA demethylation|RNA repair nucleus DNA-N1-methyladenine dioxygenase activity|ferrous iron binding|oxidative DNA demethylase activity|oxidative RNA demethylase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen 0 GAGGATGACTCTCATCTCGAA 0.403 NA 4 36 0 0 0.001168 0 0 HYDIN 54768 broad.mit.edu 37 16 71007821 71007821 + Nonsense_Mutation SNP C C A TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr16:71007821C>A uc002ezr.2 - 34 5265 c.5137G>T c.(5137-5139)GGA>TGA p.G1713* NM_032821 NP_116210 Q4G0P3 HYDIN_HUMAN hydrocephalus inducing isoform a 1714 ovary(1)|skin(1) 2 Ovarian(137;0.0654) AGGCACTGTCCACACTGAATT 0.488 NA 28 88 2.42023e-17 3.89047e-17 0.003271 1 0 HYDIN 54768 broad.mit.edu 37 16 71098635 71098635 + Silent SNP G G A TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr16:71098635G>A uc002ezr.2 - 16 2312 c.2184C>T c.(2182-2184)CTC>CTT p.L728L HYDIN_uc010cfz.1_Silent_p.L473L|HYDIN_uc002ezv.2_Silent_p.L728L|HYDIN_uc010vmc.1_Silent_p.L745L|HYDIN_uc010vmd.1_Silent_p.L755L NM_032821 NP_116210 Q4G0P3 HYDIN_HUMAN hydrocephalus inducing isoform a 728 ovary(1)|skin(1) 2 Ovarian(137;0.0654) AGAATCCTGGGAGGTCATCTT 0.468 NA 6 22 0 0 0.006214 0 0 CALB2 794 broad.mit.edu 37 16 71417284 71417284 + Missense_Mutation SNP C C A TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr16:71417284C>A uc002faa.3 + 6 484 c.414C>A c.(412-414)GAC>GAA p.D138E CALB2_uc010vme.1_RNA|CALB2_uc002fac.3_Missense_Mutation_p.D138E NM_001740 NP_001731 P22676 CALB2_HUMAN calbindin 2 isoform 1 138 EF-hand 3. calcium ion binding 0 Ovarian(137;0.125) TCCTGTCAGACCTGCTGAAGA 0.522 NA 7 29 1.06961e-07 1.30787e-07 0.00308 1 0 ADAMTS18 170692 broad.mit.edu 37 16 77325218 77325218 + Missense_Mutation SNP G G T TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr16:77325218G>T uc002ffc.3 - 21 3766 c.3347C>A c.(3346-3348)CCA>CAA p.P1116Q NM_199355 NP_955387 Q8TE60 ATS18_HUMAN ADAM metallopeptidase with thrombospondin type 1 1116 TSP type-1 4. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding large_intestine(4)|lung(4)|kidney(4)|skin(3)|breast(1)|ovary(1)|pancreas(1) 18 TGGATGGGCTGGGCAAGCCCG 0.512 NA 30 75 8.88839e-20 1.47e-19 0.010818 1 0 MVD 4597 broad.mit.edu 37 16 88723851 88723851 + Silent SNP G G A TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr16:88723851G>A uc002flg.1 - 4 403 c.396C>T c.(394-396)GCC>GCT p.A132A MVD_uc002flf.1_5'Flank NM_002461 NP_002452 P53602 MVD1_HUMAN diphosphomevalonate decarboxylase 132 cholesterol biosynthetic process|positive regulation of cell proliferation cytosol ATP binding|diphosphomevalonate decarboxylase activity|Hsp70 protein binding|kinase activity|protein homodimerization activity 0 BRCA - Breast invasive adenocarcinoma(80;0.0478) CACCTAGGCAGGCATAGCCCG 0.692 NA 7 10 0 0 0.00308 0 0 TP53 7157 broad.mit.edu 37 17 7579310 7579310 + Splice_Site SNP A A T TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr17:7579310A>T uc002gim.2 - 4 569 c.375_splice c.e4+1 p.T125_splice TP53_uc002gig.1_Splice_Site_p.T125_splice|TP53_uc002gih.2_Splice_Site_p.T125_splice|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_5'Flank|TP53_uc010cng.1_5'Flank|TP53_uc002gii.1_5'Flank|TP53_uc010cnh.1_Splice_Site_p.T125_splice|TP53_uc010cni.1_Splice_Site_p.T125_splice|TP53_uc002gij.2_Splice_Site_p.T125_splice|TP53_uc010cnj.1_5'Flank|TP53_uc002gin.2_Intron|TP53_uc002gio.2_Intron|TP53_uc010vug.1_Splice_Site_p.T86_splice NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 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.0?(7)|p.?(5)|p.V73fs*9(1)|p.Y126fs*11(1)|p.P13fs*18(1)|p.T125_Y126insX(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) AGGGCAACTGACCGTGCAAGT 0.532 Pancreas(47;798 1329 9957 10801) 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-Fraumensyndrome|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) 5 50 0 0 0.001984 0 0 ALOX12B 242 broad.mit.edu 37 17 7984442 7984442 + Missense_Mutation SNP G G T TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr17:7984442G>T uc002gjy.1 - 3 677 c.416C>A c.(415-417)GCC>GAC p.A139D uc010cnq.1_RNA NM_001139 NP_001130 O75342 LX12B_HUMAN arachidonate 12-lipoxygenase, 12R type 139 Lipoxygenase. epidermis development|leukotriene biosynthetic process arachidonate 12-lipoxygenase activity|iron ion binding|lipoxygenase activity 0 GTCCTGCTTGGCTCTGATCTC 0.632 NA Multiple Myeloma(8;0.094) 16 26 3.5997e-14 5.43113e-14 0.014323 1 0 ZNF18 7566 broad.mit.edu 37 17 11881681 11881681 + Nonsense_Mutation SNP T T A TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr17:11881681T>A uc002gng.1 - 9 1848 c.1243A>T c.(1243-1245)AAG>TAG p.K415* ZNF18_uc002gnh.1_Nonsense_Mutation_p.K415*|ZNF18_uc002gni.1_Nonsense_Mutation_p.K414* NM_144680 NP_653281 P17022 ZNF18_HUMAN zinc finger protein 18 415 C2H2-type 1. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(1) 1 Colorectal(4;3.33e-05)|COAD - Colon adenocarcinoma(4;0.000494)|READ - Rectum adenocarcinoma(10;0.233) TAAAAGGTCTTCCCACACTCC 0.517 NA 27 31 0 0 0.008361 0 0 UTP6 55813 broad.mit.edu 37 17 30228589 30228589 + Nonsense_Mutation SNP C C A TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr17:30228589C>A uc002hgr.2 - 1 141 c.58G>T c.(58-60)GAG>TAG p.E20* UTP6_uc010cst.2_5'UTR|UTP6_uc010wbw.1_Nonsense_Mutation_p.E20* NM_018428 NP_060898 Q9NYH9 UTP6_HUMAN hepatocellular carcinoma-associated antigen 66 20 rRNA processing nucleolus binding ovary(1) 1 all_hematologic(16;0.0149)|Ovarian(249;0.021)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|Breast(31;0.231) CCAATGCGCTCCAGCTGTTCC 0.572 NA 21 53 6.36457e-07 7.58457e-07 0.003954 1 0 RFFL 117584 broad.mit.edu 37 17 33353469 33353469 + Missense_Mutation SNP C C A TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr17:33353469C>A uc002hin.1 - 2 277 c.104G>T c.(103-105)AGC>ATC p.S35I RFFL_uc002hiq.2_Intron|RFFL_uc002him.1_Missense_Mutation_p.S35I|RFFL_uc010cti.1_Missense_Mutation_p.S41I|RFFL_uc002hip.1_Missense_Mutation_p.S35I|RFFL_uc002hio.1_Missense_Mutation_p.S35I NM_001017368 NP_001017368 Q8WZ73 RFFL_HUMAN rififylin 35 apoptosis membrane ligase activity|zinc ion binding 0 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0227) AGGGAAGGAGCTGTACCCAGG 0.602 NA 9 30 0.000274275 0.000299843 0.004482 1 0 C17orf66 256957 broad.mit.edu 37 17 34191520 34191520 + Missense_Mutation SNP T T G TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr17:34191520T>G uc002hke.1 - 5 640 c.491A>C c.(490-492)GAG>GCG p.E164A C17orf66_uc010wck.1_RNA|C17orf66_uc010wcl.1_Missense_Mutation_p.E124A|C17orf66_uc010wcm.1_Missense_Mutation_p.E130A NM_152781 NP_689994 A2RTY3 CQ066_HUMAN hypothetical protein LOC256957 164 binding breast(2)|skin(1) 3 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0184) ATAGAACTGCTCATCCTCTCT 0.473 NA 4 84 0 0 0.001168 0 0 IKZF3 22806 broad.mit.edu 37 17 37922523 37922523 + Missense_Mutation SNP C C G TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr17:37922523C>G uc002hsu.2 - 8 1112 c.1050G>C c.(1048-1050)GAG>GAC p.E350D IKZF3_uc002htd.2_Missense_Mutation_p.E316D|IKZF3_uc010cwd.2_Missense_Mutation_p.E207D|IKZF3_uc002hsv.2_Missense_Mutation_p.E277D|IKZF3_uc010cwe.2_Missense_Mutation_p.E216D|IKZF3_uc010cwf.2_Missense_Mutation_p.E168D|IKZF3_uc010cwg.2_Missense_Mutation_p.E129D|IKZF3_uc002hsw.2_Missense_Mutation_p.E311D|IKZF3_uc002hsx.2_Missense_Mutation_p.E294D|IKZF3_uc002hsy.2_Missense_Mutation_p.E311D|IKZF3_uc002hsz.2_Missense_Mutation_p.E255D|IKZF3_uc002hta.2_Missense_Mutation_p.E272D|IKZF3_uc002htb.2_RNA|IKZF3_uc010cwh.2_Missense_Mutation_p.E263D|IKZF3_uc002htc.2_Missense_Mutation_p.E103D|IKZF3_uc010wel.1_Missense_Mutation_p.E103D NM_012481 NP_036613 Q9UKT9 IKZF3_HUMAN aiolos isoform 1 350 B cell activation|mesoderm development|regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding lung(2)|kidney(2)|skin(2) 6 Breast(7;4.5e-103)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052) UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171) CGTTTGACATCTCAGCCCGGG 0.582 NA 6 47 0 0 0.00308 0 0 COIL 8161 broad.mit.edu 37 17 55027858 55027858 + Nonsense_Mutation SNP C C A TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr17:55027858C>A uc002iuu.2 - 2 776 c.745G>T c.(745-747)GAG>TAG p.E249* NM_004645 NP_004636 P38432 COIL_HUMAN coilin 249 2 X 4 AA repeats of A-R-N-S.|Ser/Thr-rich. Cajal body|nucleolus protein C-terminus binding ovary(1) 1 Breast(9;6.15e-08) GATTCAGACTCCGAGGAGGAA 0.428 NA 18 42 1.01871e-10 1.38695e-10 0.008871 1 0 APOH 350 broad.mit.edu 37 17 64216808 64216808 + Nonsense_Mutation SNP A A T TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr17:64216808A>T uc002jfn.3 - 5 527 c.468T>A c.(466-468)TAT>TAA p.Y156* NM_000042 NP_000033 P02749 APOH_HUMAN apolipoprotein H precursor 156 Sushi 3. blood coagulation, intrinsic pathway|negative regulation of angiogenesis|negative regulation of blood coagulation|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of myeloid cell apoptosis|negative regulation of smooth muscle cell apoptosis|plasminogen activation|positive regulation of lipoprotein lipase activity|triglyceride metabolic process|triglyceride transport cell surface|chylomicron|high-density lipoprotein particle|very-low-density lipoprotein particle eukaryotic cell surface binding|glycoprotein binding|heparin binding|lipoprotein lipase activator activity|phospholipid binding 0 BRCA - Breast invasive adenocarcinoma(6;9.74e-08) CTGATGGCTTATAAACACGAA 0.403 Melanoma(155;624 1882 16869 48804 51309) NA 22 66 0 0 0.004656 0 0 LAMA1 284217 broad.mit.edu 37 18 6980545 6980545 + Silent SNP G G T TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr18:6980545G>T uc002knm.2 - 42 6076 c.5982C>A c.(5980-5982)CTC>CTA p.L1994L LAMA1_uc010wzj.1_Silent_p.L1470L NM_005559 NP_005550 P25391 LAMA1_HUMAN laminin, alpha 1 precursor 1994 Domain II and I. 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) TAAGTATCAAGAGTGATTCAT 0.348 NA 7 20 1.06961e-07 1.30787e-07 0.00308 1 0 CHMP1B 57132 broad.mit.edu 37 18 11852027 11852027 + Missense_Mutation SNP A A G TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr18:11852027A>G uc002kqe.2 + 1 639 c.517A>G c.(517-519)ACC>GCC p.T173A GNAL_uc002kqc.2_Intron|GNAL_uc010dkz.2_Intron|GNAL_uc002kqd.2_Intron NM_020412 NP_065145 Q7LBR1 CHM1B_HUMAN chromatin modifying protein 1B 173 cell cycle|cell division|protein transport cytosol|late endosome membrane protein domain specific binding 0 GCAGGGCCAGACCGGCTCCGT 0.637 NA 7 25 0 0 0.006214 0 0 MIB1 57534 broad.mit.edu 37 18 19353597 19353597 + Nonsense_Mutation SNP C C T TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr18:19353597C>T uc002ktq.2 + 4 544 c.544C>T c.(544-546)CAG>TAG p.Q182* MIB1_uc002ktp.2_5'UTR NM_020774 NP_065825 Q86YT6 MIB1_HUMAN mindbomb homolog 1 182 MIB/HERC2 2. Notch signaling pathway centrosome|nuclear membrane|plasma membrane ubiquitin-protein ligase activity|zinc ion binding ovary(4) 4 STAD - Stomach adenocarcinoma(5;0.212) AACAGAAATCCAGGACTGGAG 0.378 NA 14 38 0 0 0.004007 0 0 LAMA3 3909 broad.mit.edu 37 18 21508596 21508596 + Missense_Mutation SNP G G T TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr18:21508596G>T uc002kuq.2 + 64 8389 c.8303G>T c.(8302-8304)CGA>CTA p.R2768L LAMA3_uc002kur.2_Missense_Mutation_p.R2712L|LAMA3_uc002kus.3_Missense_Mutation_p.R1159L|LAMA3_uc002kut.3_Missense_Mutation_p.R1103L NM_198129 NP_937762 Q16787 LAMA3_HUMAN laminin alpha 3 subunit isoform 1 2768 Laminin G-like 3. cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity ovary(8)|skin(2)|central_nervous_system(1) 11 all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) CAGCTTGTGCGATCTGCCTCA 0.418 NA 37 123 2.19962e-31 3.87374e-31 0.00874 1 0 OSBPL1A 114876 broad.mit.edu 37 18 21914211 21914211 + Missense_Mutation SNP G G C TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr18:21914211G>C uc002kve.2 - 6 652 c.478C>G c.(478-480)CTG>GTG p.L160V NM_080597 NP_542164 Q9BXW6 OSBL1_HUMAN oxysterol-binding protein-like 1A isoform B 160 cholesterol metabolic process|lipid transport|vesicle-mediated transport phospholipid binding ovary(4) 4 all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17) TGTTTTACCAGAGCTGTGAGT 0.328 NA 6 29 0 0 0.001984 0 0 DSC2 1824 broad.mit.edu 37 18 28648025 28648025 + Nonsense_Mutation SNP C C A TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr18:28648025C>A uc002kwl.3 - 16 3116 c.2662G>T c.(2662-2664)GAG>TAG p.E888* DSC2_uc002kwk.3_3'UTR NM_024422 NP_077740 Q02487 DSC2_HUMAN desmocollin 2 isoform Dsc2a preproprotein 888 Cytoplasmic (Potential). homophilic cell adhesion desmosome|integral to membrane calcium ion binding ovary(2)|skin(1) 3 OV - Ovarian serous cystadenocarcinoma(10;0.0241) AATTTGGGCTCCAAATTATCC 0.398 NA 12 38 1.3612e-06 1.61467e-06 0.003163 1 0 ASXL3 80816 broad.mit.edu 37 18 31323412 31323412 + Silent SNP G G C TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr18:31323412G>C uc010dmg.1 + 12 3655 c.3600G>C c.(3598-3600)GTG>GTC p.V1200V ASXL3_uc002kxq.2_Silent_p.V907V NM_030632 NP_085135 Q9C0F0 ASXL3_HUMAN additional sex combs like 3 1200 Ser-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding ovary(2)|pancreas(1) 3 ACTTATCTGTGCATAGTTCTG 0.418 NA 12 25 0 0 0.001855 0 0 SLC14A2 8170 broad.mit.edu 37 18 43249312 43249312 + Missense_Mutation SNP G G T TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr18:43249312G>T uc010dnj.2 + 17 2399 c.2078G>T c.(2077-2079)TGG>TTG p.W693L SLC14A2_uc002lbe.2_Missense_Mutation_p.W693L NM_007163 NP_009094 Q15849 UT2_HUMAN solute carrier family 14 (urea transporter), 693 apical plasma membrane|integral to membrane|membrane fraction protein binding|urea transmembrane transporter activity upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)|skin(1) 4 TTCAGCAAGTGGGACCTCCCA 0.552 NA 55 139 3.77215e-22 6.42387e-22 0.01441 1 0 ALPK2 115701 broad.mit.edu 37 18 56203726 56203726 + Missense_Mutation SNP C C A TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr18:56203726C>A uc002lhj.3 - 5 3907 c.3693G>T c.(3691-3693)GAG>GAT p.E1231D ALPK2_uc002lhk.1_Missense_Mutation_p.E562D NM_052947 NP_443179 Q86TB3 ALPK2_HUMAN heart alpha-kinase 1231 ATP binding|protein serine/threonine kinase activity ovary(7)|skin(5)|lung(1)|central_nervous_system(1) 14 TGTTGCCTGCCTCCCAATTTC 0.468 NA 23 78 6.44725e-10 8.50839e-10 0.014323 1 0 CDH7 1005 broad.mit.edu 37 18 63527057 63527057 + Missense_Mutation SNP C C G TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr18:63527057C>G uc002ljz.2 + 10 1933 c.1608C>G c.(1606-1608)AAC>AAG p.N536K CDH7_uc002lka.2_Missense_Mutation_p.N536K|CDH7_uc002lkb.2_Missense_Mutation_p.N536K NM_033646 NP_387450 Q9ULB5 CADH7_HUMAN cadherin 7, type 2 preproprotein 536 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) TGAAAGATAACAAAGGTAATG 0.363 NA 3 17 0 0 0.004672 0 0 C19orf26 255057 broad.mit.edu 37 19 1235049 1235049 + Nonsense_Mutation SNP C C A TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr19:1235049C>A uc002lrm.2 - 5 663 c.388G>T c.(388-390)GAG>TAG p.E130* NM_152769 NP_689982 Q8N350 DOS_HUMAN downstream of Stk11 130 integral to membrane 0 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) AGCGCCGCCTCATTGAAGGAG 0.692 NA HNSCC(14;0.022) 4 9 0.000602214 0.000650089 0.000602 1 0 JSRP1 126306 broad.mit.edu 37 19 2252613 2252613 + Missense_Mutation SNP C C G TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr19:2252613C>G uc002lvi.1 - 6 746 c.711G>C c.(709-711)GAG>GAC p.E237D JSRP1_uc002lvj.1_Missense_Mutation_p.E237D NM_144616 NP_653217 Q96MG2 JSPR1_HUMAN junctional sarcoplasmic reticulum protein 1 237 Arg-rich. sarcoplasmic reticulum membrane pancreas(1) 1 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) TCCGAGGCCTCTCCTTGGGTC 0.687 NA 12 61 0 0 0.013537 0 0 ZFR2 23217 broad.mit.edu 37 19 3822144 3822144 + Missense_Mutation SNP T T C TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr19:3822144T>C uc002lyw.2 - 9 1438 c.1426A>G c.(1426-1428)AGT>GGT p.S476G ZFR2_uc010xhx.1_RNA NM_015174 NP_055989 Q9UPR6 ZFR2_HUMAN zinc finger RNA binding protein 2 isoform 1 476 intracellular nucleic acid binding|zinc ion binding central_nervous_system(1)|pancreas(1) 2 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00514)|STAD - Stomach adenocarcinoma(1328;0.19) TCGTTGAAACTGCACTCGCAC 0.667 NA 7 9 0 0 0.004482 0 0 ACTL9 284382 broad.mit.edu 37 19 8808217 8808217 + Missense_Mutation SNP T T A TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr19:8808217T>A uc002mkl.2 - 1 956 c.835A>T c.(835-837)ACT>TCT p.T279S NM_178525 NP_848620 Q8TC94 ACTL9_HUMAN actin-like 9 279 cytoplasm|cytoskeleton large_intestine(2)|pancreas(1) 3 AGCTTCAGAGTCCGCTTGTAC 0.632 NA 15 46 0 0 0.004007 0 0 OR2Z1 284383 broad.mit.edu 37 19 8842168 8842168 + Missense_Mutation SNP A A G rs61746161 byFrequency TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr19:8842168A>G uc010xkg.1 + 1 778 c.778A>G c.(778-780)ATG>GTG p.M260V NM_001004699 NP_001004699 Q8NG97 OR2Z1_HUMAN olfactory receptor, family 2, subfamily Z, 260 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|skin(1) 2 GTTCATGTACATGGTGCCTTG 0.552 NA 18 48 0 0 0.012319 0 0 CYP4F2 8529 broad.mit.edu 37 19 15990587 15990587 + Silent SNP C C A TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr19:15990587C>A uc002nbs.1 - 10 1286 c.1236G>T c.(1234-1236)CGG>CGT p.R412R CYP4F2_uc010xot.1_Silent_p.R263R NM_001082 NP_001073 P78329 CP4F2_HUMAN cytochrome P450, family 4, subfamily F, 412 leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding ovary(1)|skin(1) 2 TGGGGATGACCCGGCCGTCTG 0.632 NA 28 82 6.90743e-12 9.90064e-12 0.003755 1 0 NWD1 284434 broad.mit.edu 37 19 16874726 16874726 + Missense_Mutation SNP C C A TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr19:16874726C>A uc002neu.3 + 9 2643 c.2221C>A c.(2221-2223)CGC>AGC p.R741S NWD1_uc002net.3_Missense_Mutation_p.R606S|NWD1_uc002nev.3_Missense_Mutation_p.R535S Q149M9 NWD1_HUMAN RecName: Full=NACHT and WD repeat domain-containing protein 1; 741 ATP binding skin(3)|ovary(2)|pancreas(2) 7 TCACTCGGGCCGCCTGGAGGA 0.612 NA 14 45 7.93312e-07 9.43201e-07 0.00245 1 0 ZNF99 7652 broad.mit.edu 37 19 22939348 22939348 + Silent SNP C C T TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr19:22939348C>T uc010xrh.1 - 7 2823 c.2823G>A c.(2821-2823)GAG>GAA p.E941E NM_001080409 NP_001073878 zinc finger protein 99 ovary(1)|skin(1) 2 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102) TGTAGGGTTTCTCTCCAGTAT 0.373 NA 13 20 0 0 0.00499 0 0 ZNF536 9745 broad.mit.edu 37 19 30935800 30935800 + Missense_Mutation SNP C C A TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr19:30935800C>A uc002nsu.1 + 2 1469 c.1331C>A c.(1330-1332)GCC>GAC p.A444D ZNF536_uc010edd.1_Missense_Mutation_p.A444D NM_014717 NP_055532 O15090 ZN536_HUMAN zinc finger protein 536 444 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding ovary(7)|large_intestine(2)|skin(2) 11 Esophageal squamous(110;0.0834) CCGGACAAAGCCGGCCTGAGC 0.647 NA 15 33 5.01169e-05 5.63406e-05 0.00499 1 0 PEPD 5184 broad.mit.edu 37 19 34003636 34003636 + Missense_Mutation SNP G G T TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr19:34003636G>T uc002nur.3 - 2 199 c.64C>A c.(64-66)CTC>ATC p.L22I PEPD_uc010xrr.1_Missense_Mutation_p.L22I|PEPD_uc010xrs.1_Missense_Mutation_p.L22I NM_000285 NP_000276 P12955 PEPD_HUMAN prolidase isoform 1 22 cellular amino acid metabolic process|collagen catabolic process|proteolysis aminopeptidase activity|dipeptidase activity|manganese ion binding|metallocarboxypeptidase activity ovary(2) 2 Esophageal squamous(110;0.137) AAGGCAAAGAGCGCCAGCGGC 0.632 NA 13 33 4.36969e-10 5.78144e-10 0.001855 1 0 KCTD15 79047 broad.mit.edu 37 19 34302445 34302445 + Silent SNP C C G TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr19:34302445C>G uc002nuy.3 + 6 949 c.681C>G c.(679-681)CTC>CTG p.L227L KCTD15_uc002nuv.2_Silent_p.L227L|KCTD15_uc002nuw.3_Silent_p.L227L|KCTD15_uc010xrt.1_Silent_p.L227L|KCTD15_uc002nux.3_Silent_p.L227L NM_001129994 NP_001123466 Q96SI1 KCD15_HUMAN potassium channel tetramerisation domain 227 voltage-gated potassium channel complex voltage-gated potassium channel activity pancreas(1) 1 Esophageal squamous(110;0.162) ACTGCCGGCTCAACTCGGTAC 0.697 Melanoma(36;646 1094 5145 14504 45302)|GBM(25;193 541 1518 14388 52178) NA 9 43 0 0 0.006214 0 0 HKR1 284459 broad.mit.edu 37 19 37854120 37854121 + Missense_Mutation DNP GG GG TT TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 GG GG - - GG GG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr19:37854120_37854121GG>TT uc002ogb.2 + 6 1692_1693 c.1423_1424GG>TT c.(1423-1425)GGG>TTG p.G475L HKR1_uc002ofx.2_Missense_Mutation_p.G191L|HKR1_uc002ofy.2_Missense_Mutation_p.G191L|HKR1_uc002oga.2_Missense_Mutation_p.G457L|HKR1_uc010xto.1_Missense_Mutation_p.G457L|HKR1_uc002ogc.2_Missense_Mutation_p.G456L|HKR1_uc010xtp.1_Missense_Mutation_p.G414L|HKR1_uc002ogd.2_Missense_Mutation_p.G414L NM_181786 NP_861451 P10072 HKR1_HUMAN GLI-Kruppel family member HKR1 475 C2H2-type 7. multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) CCTGGAGTGCGGGCAGTGCTTT 0.51 NA 23 62 0 0 0.004672 0 0 HKR1 284459 broad.mit.edu 37 19 37854344 37854344 + Silent SNP G G A TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr19:37854344G>A uc002ogb.2 + 6 1916 c.1647G>A c.(1645-1647)GGG>GGA p.G549G HKR1_uc002ofx.2_Silent_p.G265G|HKR1_uc002ofy.2_Silent_p.G265G|HKR1_uc002oga.2_Silent_p.G531G|HKR1_uc010xto.1_Silent_p.G531G|HKR1_uc002ogc.2_Silent_p.G530G|HKR1_uc010xtp.1_Silent_p.G488G|HKR1_uc002ogd.2_Silent_p.G488G NM_181786 NP_861451 P10072 HKR1_HUMAN GLI-Kruppel family member HKR1 549 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) CACATTCAGGGGAAAAGCCTT 0.512 NA 8 33 0 0 0.004482 0 0 RYR1 6261 broad.mit.edu 37 19 38948829 38948829 + Silent SNP C C A TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr19:38948829C>A uc002oit.2 + 18 2194 c.2064C>A c.(2062-2064)ACC>ACA p.T688T RYR1_uc002oiu.2_Silent_p.T688T NM_000540 NP_000531 P21817 RYR1_HUMAN skeletal muscle ryanodine receptor isoform 1 688 Cytoplasmic.|B30.2/SPRY 1. muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1) 12 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) GGGCCCTCACCGAGGGCTACA 0.627 NA 19 66 1.01871e-10 1.38695e-10 0.008871 1 0 DEDD2 162989 broad.mit.edu 37 19 42719285 42719285 + Missense_Mutation SNP C C G TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr19:42719285C>G uc002osu.1 - 3 516 c.448G>C c.(448-450)GGC>CGC p.G150R DEDD2_uc002osv.1_RNA|DEDD2_uc002osw.1_Intron|DEDD2_uc002osx.1_Missense_Mutation_p.Q33H|DEDD2_uc002osy.1_Missense_Mutation_p.G150R NM_133328 NP_579874 Q8WXF8 DEDD2_HUMAN death effector domain-containing DNA binding 150 activation of pro-apoptotic gene products|apoptotic nuclear change|cellular homeostasis|induction of apoptosis via death domain receptors|intracellular signal transduction|negative regulation of transcription, DNA-dependent|RNA processing|rRNA catabolic process|transcription, DNA-dependent nucleolus DNA binding|receptor signaling complex scaffold activity 0 Prostate(69;0.0704) CTGGGCTCACCTGTCTCCCAC 0.542 NA 17 71 0 0 0.00278 0 0 TMEM145 284339 broad.mit.edu 37 19 42824524 42824524 + Missense_Mutation SNP G G C TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr19:42824524G>C uc002otk.1 + 13 1181 c.1129G>C c.(1129-1131)GCC>CCC p.A377P NM_173633 NP_775904 Q8NBT3 TM145_HUMAN transmembrane protein 145 377 integral to membrane 0 Prostate(69;0.00682) CCCCAAGTGGGCCCGGGAGAA 0.577 NA 25 71 0 0 0.004656 0 0 ZNF233 353355 broad.mit.edu 37 19 44777052 44777052 + Missense_Mutation SNP G G A TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr19:44777052G>A uc002oyz.1 + 5 366 c.239G>A c.(238-240)GGA>GAA p.G80E ZNF235_uc002oyx.1_Intron|ZNF235_uc010eji.2_Intron|ZNF233_uc002oyy.1_5'UTR NM_181756 NP_861421 A6NK53 ZN233_HUMAN zinc finger protein 233 80 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(2) 2 Prostate(69;0.0435)|all_neural(266;0.226) ATCATTCTAGGACACAAGAAT 0.323 NA 6 20 0 0 0.001984 0 0 DMWD 1762 broad.mit.edu 37 19 46289820 46289820 + Missense_Mutation SNP G G A TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr19:46289820G>A uc002pdj.1 - 3 980 c.934C>T c.(934-936)CAC>TAC p.H312Y DMWD_uc002pdk.1_Missense_Mutation_p.H312Y|DMWD_uc010eko.1_5'UTR NM_004943 NP_004934 Q09019 DMWD_HUMAN dystrophia myotonica-containing WD repeat motif 312 WD 2. meiosis 0 Ovarian(192;0.0308)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.00604)|GBM - Glioblastoma multiforme(486;0.0807)|Epithelial(262;0.236) GAGTCGAAGTGGAAGACGCGC 0.662 NA 14 35 0 0 0.003163 0 0 DHX34 9704 broad.mit.edu 37 19 47870342 47870342 + Silent SNP C C A TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr19:47870342C>A uc010xyn.1 + 7 2039 c.1698C>A c.(1696-1698)GCC>GCA p.A566A DHX34_uc010elc.1_Silent_p.A481A NM_014681 NP_055496 Q14147 DHX34_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 34 566 intracellular ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding ovary(4)|upper_aerodigestive_tract(1) 5 all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503) all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132) ACCAGGGGGCCCTGGACAGCT 0.642 NA 7 15 4.36969e-10 5.78144e-10 0.001855 1 0 SULT2A1 6822 broad.mit.edu 37 19 48387042 48387042 + Missense_Mutation SNP C C A TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr19:48387042C>A uc002phr.2 - 2 277 c.137G>T c.(136-138)GGA>GTA p.G46V NM_003167 NP_003158 Q06520 ST2A1_HUMAN bile-salt sulfotransferase 2A1 46 PAPS. 3'-phosphoadenosine 5'-phosphosulfate metabolic process|bile acid catabolic process|cellular lipid metabolic process|digestion|sulfation|xenobiotic metabolic process cytosol bile-salt sulfotransferase activity ovary(1)|pancreas(1) 2 all_cancers(25;3.02e-09)|all_lung(116;6.48e-07)|all_epithelial(76;7.35e-07)|Lung NSC(112;1.56e-06)|all_neural(266;0.0146)|Ovarian(192;0.0261)|Breast(70;0.203) OV - Ovarian serous cystadenocarcinoma(262;0.000254)|all cancers(93;0.000545)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.0552) CCAGTTTGTTCCTGGAAAAAG 0.333 NA 9 26 0.00448238 0.0046915 0.004482 1 0 EMP3 2014 broad.mit.edu 37 19 48830119 48830120 + Missense_Mutation DNP GG GG TT TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 GG GG - - GG GG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr19:48830119_48830120GG>TT uc002piv.2 + 2 272_273 c.18_19GG>TT c.(16-21)CTGGTG>CTTTTG p.V7L NM_001425 NP_001416 P54852 EMP3_HUMAN epithelial membrane protein 3 7 Helical; (Potential). cell growth|negative regulation of cell proliferation integral to membrane 0 all_epithelial(76;6.08e-07)|all_lung(116;5.76e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.00989)|Prostate(7;0.0143)|Ovarian(192;0.0261)|Breast(70;0.203) OV - Ovarian serous cystadenocarcinoma(262;0.000138)|all cancers(93;0.00017)|Epithelial(262;0.0138)|GBM - Glioblastoma multiforme(486;0.0146) TCCTCTTGCTGGTGGTCTCAGC 0.495 NA 53 155 0 0 0.004672 0 0 SPHK2 56848 broad.mit.edu 37 19 49132455 49132455 + Missense_Mutation SNP C C T TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr19:49132455C>T uc002pjr.2 + 7 1756 c.1390C>T c.(1390-1392)CCG>TCG p.P464S SPHK2_uc010xzt.1_Missense_Mutation_p.P405S|SPHK2_uc002pjs.2_Missense_Mutation_p.P464S|SPHK2_uc002pjt.2_Missense_Mutation_p.P258S|SPHK2_uc002pju.2_Intron|SPHK2_uc002pjv.2_Missense_Mutation_p.P428S|SPHK2_uc002pjw.2_Missense_Mutation_p.P526S NM_020126 NP_064511 Q9NRA0 SPHK2_HUMAN sphingosine kinase 2 464 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis|cell proliferation|sphinganine-1-phosphate biosynthetic process cytosol|lysosomal membrane|membrane fraction ATP binding|D-erythro-sphingosine kinase activity|diacylglycerol kinase activity|Ras GTPase binding|sphinganine kinase activity lung(1) 1 all_lung(116;0.000125)|Lung NSC(112;0.000202)|all_epithelial(76;0.000283)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158) TGGGGATGCTCCGCTGTCCCC 0.592 NA 41 116 0 0 0.01441 0 0 MYBPC2 4606 broad.mit.edu 37 19 50944254 50944254 + Silent SNP C C G TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr19:50944254C>G uc002psf.2 + 8 741 c.690C>G c.(688-690)GCC>GCG p.A230A NM_004533 NP_004524 Q14324 MYPC2_HUMAN myosin binding protein C, fast type 230 cell adhesion|muscle filament sliding cytosol|myosin filament actin binding|structural constituent of muscle breast(1) 1 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144) AGAAAATCGCCTTCCAGTATG 0.542 NA 6 14 0 0 0.001168 0 0 NLRP12 91662 broad.mit.edu 37 19 54310817 54310817 + Silent SNP C C A TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr19:54310817C>A uc002qch.3 - 4 2395 c.2175G>T c.(2173-2175)CTG>CTT p.L725L NLRP12_uc010eqw.2_5'UTR|NLRP12_uc002qci.3_Silent_p.L725L|NLRP12_uc002qcj.3_Silent_p.L726L|NLRP12_uc002qck.3_RNA|NLRP12_uc010eqx.2_Silent_p.L726L NM_144687 NP_653288 P59046 NAL12_HUMAN NLR family, pyrin domain containing 12 isoform 725 negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB cytoplasm ATP binding|caspase activator activity|protein binding ovary(4)|upper_aerodigestive_tract(2)|lung(1) 7 Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.026) CCCGGCTGCCCAGGGCATTTC 0.582 NA 17 49 4.14922e-12 5.98044e-12 0.004007 1 0 LILRB5 10990 broad.mit.edu 37 19 54758764 54758764 + Silent SNP G G C TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr19:54758764G>C uc002qex.2 - 6 1200 c.1089C>G c.(1087-1089)CCC>CCG p.P363P LILRA6_uc002qew.1_Intron|LILRB5_uc010yer.1_Silent_p.P354P|LILRB5_uc002qey.2_Silent_p.P363P|LILRB5_uc002qez.2_Silent_p.P263P|LILRB5_uc002qfa.1_Silent_p.P253P|LILRB5_uc010yes.1_RNA NM_006840 NP_006831 O75023 LIRB5_HUMAN leukocyte immunoglobulin-like receptor, 363 Ig-like C2-type 4.|Extracellular (Potential). cell surface receptor linked signaling pathway|defense response integral to membrane transmembrane receptor activity ovary(1)|pancreas(1) 2 all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) GACACAGCGGGGGATGGGCTG 0.547 NA 10 72 0 0 0.010729 0 0 LILRA4 23547 broad.mit.edu 37 19 54848130 54848130 + Silent SNP G G A TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr19:54848130G>A uc002qfj.2 - 6 1294 c.1237C>T c.(1237-1239)CTG>TTG p.L413L LILRA4_uc002qfi.2_Silent_p.L347L NM_012276 NP_036408 P59901 LIRA4_HUMAN leukocyte immunoglobulin-like receptor subfamily 413 Ig-like C2-type 4.|Extracellular (Potential). integral to membrane receptor activity upper_aerodigestive_tract(1)|central_nervous_system(1) 2 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.0565) ACGAGCTCCAGGGGCTCACTG 0.597 NA 24 46 0 0 0.003954 0 0 LILRA2 11027 broad.mit.edu 37 19 55087568 55087568 + Missense_Mutation SNP T T A TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr19:55087568T>A uc002qgg.3 + 6 1336 c.1247T>A c.(1246-1248)GTG>GAG p.V416E LILRA2_uc010ern.2_Missense_Mutation_p.V416E|LILRA2_uc002qgf.2_Missense_Mutation_p.V416E|LILRA2_uc010yfe.1_Missense_Mutation_p.V416E|LILRA2_uc010yff.1_Missense_Mutation_p.V404E|LILRA2_uc010ero.2_Missense_Mutation_p.V404E|LILRA2_uc010yfg.1_Intron NM_001130917 NP_001124389 Q8N149 LIRA2_HUMAN leukocyte immunoglobulin-like receptor, 416 Extracellular (Potential). defense response integral to membrane antigen binding|receptor activity ovary(1) 1 GBM - Glioblastoma multiforme(193;0.0963) CTGGAGCTCGTGGTCTCAGGT 0.612 NA 24 83 0 0 0.003954 0 0 SYT5 6861 broad.mit.edu 37 19 55685998 55685998 + Missense_Mutation SNP G G T TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr19:55685998G>T uc002qjm.1 - 7 1907 c.847C>A c.(847-849)CTG>ATG p.L283M SYT5_uc002qjp.2_Missense_Mutation_p.L279M|SYT5_uc002qjn.1_Missense_Mutation_p.L283M|SYT5_uc002qjo.1_Missense_Mutation_p.L282M NM_003180 NP_003171 O00445 SYT5_HUMAN synaptotagmin V 283 Cytoplasmic (Potential).|C2 2. energy reserve metabolic process|regulation of insulin secretion|synaptic transmission cell junction|integral to membrane|recycling endosome membrane|synaptic vesicle membrane metal ion binding|transporter activity 0 BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.0452) CCCTGCAGCAGGTGGACCTTG 0.522 NA 17 48 1.50039e-11 2.10381e-11 0.012319 1 0 ZNF304 57343 broad.mit.edu 37 19 57867768 57867768 + Silent SNP A A G TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr19:57867768A>G uc010ygw.1 + 3 919 c.531A>G c.(529-531)CCA>CCG p.P177P ZNF304_uc010etw.2_Silent_p.P224P|ZNF304_uc010etx.2_Silent_p.P135P NM_020657 NP_065708 Q9HCX3 ZN304_HUMAN zinc finger protein 304 177 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265) TGGACTTACCAGATAGCTCTG 0.517 NA 17 44 0 0 0.00333 0 0 PREB 10113 broad.mit.edu 37 2 27354669 27354669 + Missense_Mutation SNP T T C TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr2:27354669T>C uc002rix.1 - 8 1283 c.1030A>G c.(1030-1032)ATT>GTT p.I344V PREB_uc002riy.1_Missense_Mutation_p.I272V|PREB_uc002riz.1_RNA|PREB_uc002rja.1_Missense_Mutation_p.I286V NM_013388 NP_037520 Q9HCU5 PREB_HUMAN prolactin regulatory element binding protein 344 Cytoplasmic (Potential). COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent endoplasmic reticulum membrane|integral to membrane|nucleus DNA binding|guanyl-nucleotide exchange factor activity|protein binding ovary(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GTCACCACAATGCCATGGGCC 0.562 NA 45 128 0 0 0.01441 0 0 FOSL2 2355 broad.mit.edu 37 2 28634930 28634930 + Missense_Mutation SNP G G T rs143327177 TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr2:28634930G>T uc002rma.2 + 4 1405 c.596G>T c.(595-597)CGA>CTA p.R199L FOSL2_uc010ymi.1_Missense_Mutation_p.R160L NM_005253 NP_005244 P15408 FOSL2_HUMAN FOS-like antigen 2 199 cell death|regulation of transcription from RNA polymerase II promoter nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(2)|breast(1) 3 Acute lymphoblastic leukemia(172;0.155) GAGGAGCGCCGATCGCCCCCA 0.642 NA 24 34 6.38683e-12 9.17996e-12 0.008361 1 0 ALK 238 broad.mit.edu 37 2 29430080 29430080 + Nonsense_Mutation SNP C C A TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr2:29430080C>A uc002rmy.2 - 26 4802 c.3895G>T c.(3895-3897)GAG>TAG p.E1299* ALK_uc010ymo.1_Nonsense_Mutation_p.E231* NM_004304 NP_004295 Q9UM73 ALK_HUMAN anaplastic lymphoma kinase precursor 1299 Protein kinase.|Cytoplasmic (Potential). protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity NPM1/ALK(632)|EML4/ALK(246)|CLTC/ALK(44)|TPM3/ALK(33)|ATIC/ALK(24)|RANBP2/ALK(16)|TPM4/ALK(12)|TFG/ALK(7)|MSN/ALK(6)|CARS/ALK(5)|VCL/ALK(4)|KIF5B/ALK(4)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|SQSTM1/ALK(2) haematopoietic_and_lymphoid_tissue(726)|lung(262)|autonomic_ganglia(148)|soft_tissue(61)|breast(4)|kidney(4)|large_intestine(3)|skin(3)|ovary(3)|thyroid(2)|central_nervous_system(1)|pancreas(1) 1218 Acute lymphoblastic leukemia(172;0.155) Adenosine triphosphate(DB00171) ATGAAGGCCTCTGGGGGCATC 0.522 NA T|Mis|A NPM1|TPM3|TFG|TPM4|ATIC|CLTC|MSN|ALO17|CARS|EML4 ALCL|NSCLC|Neuroblastoma neuroblastoma Neuroblastoma_Familial_Clustering_of|Congenital_Central_Hypoventilation_Syndrome 24 43 7.92952e-12 1.12408e-11 0.003954 1 0 LTBP1 4052 broad.mit.edu 37 2 33413709 33413709 + Missense_Mutation SNP C C A TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr2:33413709C>A uc002ros.2 + 7 1492 c.1492C>A c.(1492-1494)CAT>AAT p.H498N LTBP1_uc002rot.2_Missense_Mutation_p.H172N|LTBP1_uc002rou.2_Missense_Mutation_p.H172N|LTBP1_uc002rov.2_Missense_Mutation_p.H172N|LTBP1_uc010ymz.1_Missense_Mutation_p.H172N|LTBP1_uc010yna.1_Missense_Mutation_p.H172N NM_206943 NP_996826 Q14766 LTBP1_HUMAN latent transforming growth factor beta binding 498 negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta proteinaceous extracellular matrix calcium ion binding|growth factor binding|transforming growth factor beta receptor activity ovary(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|central_nervous_system(1) 8 all_hematologic(175;0.115) Medulloblastoma(90;0.215) CGTCCAGATACATCAGGTTTC 0.458 NA 26 47 5.61819e-17 9.00306e-17 0.005443 1 0 CRIM1 51232 broad.mit.edu 37 2 36623783 36623783 + Missense_Mutation SNP C C T TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr2:36623783C>T uc002rpd.2 + 2 397 c.358C>T c.(358-360)CTT>TTT p.L120F NM_016441 NP_057525 Q9NZV1 CRIM1_HUMAN cysteine-rich motor neuron 1 precursor 120 Extracellular (Potential). nervous system development|regulation of cell growth extracellular region|integral to membrane|plasma membrane insulin-like growth factor binding|insulin-like growth factor receptor activity|serine-type endopeptidase inhibitor activity ovary(2)|skin(1) 3 all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154) TGACCAACTGCTTGGTTTTAA 0.408 NA 25 48 0 0 0.007291 0 0 ABCG8 64241 broad.mit.edu 37 2 44102327 44102327 + Missense_Mutation SNP T T C TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr2:44102327T>C uc002rtq.2 + 11 1621 c.1531T>C c.(1531-1533)TAC>CAC p.Y511H ABCG8_uc010yoa.1_Missense_Mutation_p.Y510H NM_022437 NP_071882 Q9H221 ABCG8_HUMAN ATP-binding cassette sub-family G member 8 511 ABC transmembrane type-2.|Helical; Name=3; (Potential). cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption apical plasma membrane|integral to membrane ATP binding|ATPase activity|protein heterodimerization activity skin(3)|ovary(1) 4 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) CATCATCATCTACGGGATGCC 0.562 NA 32 66 0 0 0.013726 0 0 LHCGR 3973 broad.mit.edu 37 2 48915419 48915419 + Missense_Mutation SNP C C A TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr2:48915419C>A uc002rwu.3 - 11 1587 c.1517G>T c.(1516-1518)AGC>ATC p.S506I GTF2A1L_uc002rwt.2_Intron NM_000233 NP_000224 P22888 LSHR_HUMAN luteinizing hormone/choriogonadotropin receptor 506 Extracellular (Potential). male genitalia development|male gonad development endosome|integral to plasma membrane luteinizing hormone receptor activity ovary(3)|lung(2)|breast(2)|skin(1) 8 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032) CATGTAATTGCTGACACCGAC 0.443 NA Familial_Male-Limited_Precocious_Puberty 13 65 4.36969e-10 5.78144e-10 0.001855 1 0 USP34 9736 broad.mit.edu 37 2 61433248 61433248 + Missense_Mutation SNP C C A TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr2:61433248C>A uc002sbe.2 - 72 9080 c.9058G>T c.(9058-9060)GCA>TCA p.A3020S USP34_uc002sbd.2_5'UTR NM_014709 NP_055524 Q70CQ2 UBP34_HUMAN ubiquitin specific protease 34 3020 positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity ovary(8)|breast(5)|skin(3)|lung(2)|prostate(1) 19 Epithelial(17;0.229) TGGATTAATGCTTGTTTCACA 0.353 NA 14 40 1.37522e-17 2.2245e-17 0.007413 1 0 CTNNA2 1496 broad.mit.edu 37 2 80831229 80831229 + Missense_Mutation SNP T T A TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr2:80831229T>A uc010ysh.1 + 15 2225 c.2220T>A c.(2218-2220)GAT>GAA p.D740E CTNNA2_uc010yse.1_Missense_Mutation_p.D740E|CTNNA2_uc010ysf.1_Missense_Mutation_p.D740E|CTNNA2_uc010ysg.1_Missense_Mutation_p.D740E|CTNNA2_uc010ysi.1_Missense_Mutation_p.D372E|CTNNA2_uc010ysj.1_Missense_Mutation_p.D69E NM_004389 NP_004380 P26232 CTNA2_HUMAN catenin, alpha 2 isoform 1 740 axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity actin cytoskeleton|axon|cytosol cadherin binding|structural constituent of cytoskeleton pancreas(4)|lung(3)|breast(1)|skin(1) 9 ATACATCTGATGTCATTAATG 0.423 NA 15 28 0 0 0.00499 0 0 COX5B 1329 broad.mit.edu 37 2 98263849 98263849 + Missense_Mutation SNP A A G TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr2:98263849A>G uc002sya.2 + 3 249 c.220A>G c.(220-222)AGG>GGG p.R74G NM_001862 NP_001853 P10606 COX5B_HUMAN cytochrome c oxidase subunit Vb precursor 74 respiratory electron transport chain|respiratory gaseous exchange mitochondrial inner membrane cytochrome-c oxidase activity|metal ion binding 0 TTCAGGCACCAGGGAAGACCC 0.373 NA 26 65 0 0 0.00632 0 0 SCTR 6344 broad.mit.edu 37 2 120209622 120209622 + Missense_Mutation SNP C C A TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr2:120209622C>A uc002tma.2 - 9 1111 c.885G>T c.(883-885)TGG>TGT p.W295C SCTR_uc002tlz.2_Missense_Mutation_p.W117C NM_002980 NP_002971 P47872 SCTR_HUMAN secretin receptor precursor 295 Helical; Name=5; (Potential). digestion|excretion integral to plasma membrane secretin receptor activity ovary(1)|central_nervous_system(1)|skin(1) 3 Secretin(DB00021) GAATGATCCACCAGATGGATG 0.587 NA 14 26 1.99824e-07 2.4204e-07 0.00499 1 0 SCTR 6344 broad.mit.edu 37 2 120219492 120219492 + Missense_Mutation SNP G G A TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr2:120219492G>A uc002tma.2 - 7 947 c.721C>T c.(721-723)CAC>TAC p.H241Y SCTR_uc002tlz.2_Missense_Mutation_p.H63Y NM_002980 NP_002971 P47872 SCTR_HUMAN secretin receptor precursor 241 Cytoplasmic (Potential). digestion|excretion integral to plasma membrane secretin receptor activity ovary(1)|central_nervous_system(1)|skin(1) 3 Secretin(DB00021) AGGAGTGTGTGAAGGTAGAGG 0.532 NA 18 94 0 0 0.006122 0 0 CFC1B 653275 broad.mit.edu 37 2 131356267 131356267 + Silent SNP G G A TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr2:131356267G>A uc002tro.1 - 3 586 c.195C>T c.(193-195)GCC>GCT p.A65A NM_001079530 NP_001072998 P0CG36 CFC1B_HUMAN cripto, FRL-1, cryptic family 1B 65 gastrulation extracellular region 0 Colorectal(110;0.1) CCCAGCCCTCGGCGCTCCCAG 0.632 NA 7 63 0 0 0.00499 0 0 POTEE 445582 broad.mit.edu 37 2 131984486 131984486 + Missense_Mutation SNP C C A TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr2:131984486C>A uc002tsn.2 + 4 953 c.901C>A c.(901-903)CTG>ATG p.L301M PLEKHB2_uc002tsh.2_Intron|POTEE_uc002tsk.2_Translation_Start_Site|POTEE_uc002tsl.2_Translation_Start_Site NM_001083538 NP_001077007 Q6S8J3 POTEE_HUMAN protein expressed in prostate, ovary, testis, 301 ATP binding 0 TTTAAATGCACTGGATAGATA 0.328 NA 8 59 2.17888e-05 2.47099e-05 0.006214 1 0 CCDC74A 90557 broad.mit.edu 37 2 132290881 132290881 + Silent SNP A A G TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr2:132290881A>G uc002tta.2 + 8 1099 c.1047A>G c.(1045-1047)GCA>GCG p.A349A CCDC74A_uc002ttb.2_Silent_p.A283A NM_138770 NP_620125 Q96AQ1 CC74A_HUMAN coiled-coil domain containing 74A 349 skin(1) 1 TCCTGCCCGCACTGAAGCAGA 0.637 NA 13 20 0 0 0.001855 0 0 LRP1B 53353 broad.mit.edu 37 2 141707960 141707960 + Missense_Mutation SNP C C A TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr2:141707960C>A uc002tvj.1 - 20 3952 c.2980G>T c.(2980-2982)GGG>TGG p.G994W LRP1B_uc010fnl.1_Missense_Mutation_p.G176W NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 994 Extracellular (Potential).|LDL-receptor class A 6. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1) 50 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) CTCCCGTCCCCACAGTCGTCA 0.448 Colon(99;50 2074 2507 20106) NA TSP Lung(27;0.18) 14 31 8.28177e-16 1.29497e-15 0.007413 1 0 KCNJ3 3760 broad.mit.edu 37 2 155555636 155555636 + Missense_Mutation SNP G G T TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr2:155555636G>T uc002tyv.1 + 1 544 c.349G>T c.(349-351)GTC>TTC p.V117F KCNJ3_uc010zce.1_Missense_Mutation_p.V117F NM_002239 NP_002230 P48549 IRK3_HUMAN potassium inwardly-rectifying channel J3 117 Extracellular (By similarity). synaptic transmission voltage-gated potassium channel complex G-protein activated inward rectifier potassium channel activity|protein binding upper_aerodigestive_tract(1)|pancreas(1) 2 Halothane(DB01159) CAAAGCCCACGTCGGTAACTA 0.552 NA 15 43 4.7546e-09 6.13344e-09 0.004007 1 0 KCNJ3 3760 broad.mit.edu 37 2 155711758 155711758 + Missense_Mutation SNP G G T TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr2:155711758G>T uc002tyv.1 + 3 1634 c.1439G>T c.(1438-1440)GGA>GTA p.G480V KCNJ3_uc010zce.1_3'UTR NM_002239 NP_002230 P48549 IRK3_HUMAN potassium inwardly-rectifying channel J3 480 Cytoplasmic (By similarity). synaptic transmission voltage-gated potassium channel complex G-protein activated inward rectifier potassium channel activity|protein binding upper_aerodigestive_tract(1)|pancreas(1) 2 Halothane(DB01159) ATGGCTGGAGGAGCAGCTAGG 0.423 NA 8 15 3.09899e-07 3.72745e-07 0.004482 1 0 LY75 4065 broad.mit.edu 37 2 160690611 160690611 + Missense_Mutation SNP T T C TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr2:160690611T>C uc002ubc.3 - 27 3854 c.3785A>G c.(3784-3786)AAG>AGG p.K1262R LY75_uc002ubb.3_Missense_Mutation_p.K1262R|LY75_uc010fos.2_Missense_Mutation_p.K1262R NM_002349 NP_002340 O60449 LY75_HUMAN lymphocyte antigen 75 precursor 1262 Extracellular (Potential).|C-type lectin 8. endocytosis|immune response|inflammatory response integral to plasma membrane receptor activity|sugar binding 0 COAD - Colon adenocarcinoma(177;0.132) ATGCCTATTCTTTGTTATTAT 0.299 NA 14 32 0 0 0.004007 0 0 LRP2 4036 broad.mit.edu 37 2 170062546 170062546 + Missense_Mutation SNP C C A TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr2:170062546C>A uc002ues.2 - 40 7756 c.7543G>T c.(7543-7545)GAT>TAT p.D2515Y NM_004525 NP_004516 P98164 LRP2_HUMAN low density lipoprotein-related protein 2 2515 LDL-receptor class B 26.|Extracellular (Potential). hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome calcium ion binding|receptor activity|SH3 domain binding ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1) 29 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) TGGCAGGGATCTAACACAATT 0.423 NA 33 104 3.62531e-18 5.90113e-18 0.004289 1 0 WIPF1 7456 broad.mit.edu 37 2 175436932 175436932 + Missense_Mutation SNP G G C TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr2:175436932G>C uc002uiy.2 - 6 933 c.601C>G c.(601-603)CGG>GGG p.R201G uc002uiw.2_Intron|uc002uix.1_Intron|WIPF1_uc002uja.2_Missense_Mutation_p.R201G|WIPF1_uc010fqt.1_Missense_Mutation_p.R201G|WIPF1_uc002ujc.1_Missense_Mutation_p.R201G|WIPF1_uc002uiz.2_Missense_Mutation_p.R201G|WIPF1_uc002ujb.1_Missense_Mutation_p.R201G|WIPF1_uc010zep.1_Missense_Mutation_p.R201G NM_003387 NP_003378 O43516 WIPF1_HUMAN WAS/WASL interacting protein family, member 1 201 actin polymerization or depolymerization|protein complex assembly cytoplasmic membrane-bounded vesicle actin binding|profilin binding ovary(1)|skin(1) 2 GGGGACCCCCGGTTGTGCGGA 0.657 NA 36 135 0 0 0.011902 0 0 SSFA2 6744 broad.mit.edu 37 2 182766646 182766646 + Missense_Mutation SNP G G C TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr2:182766646G>C uc002uoi.2 + 8 1188 c.866G>C c.(865-867)AGT>ACT p.S289T SSFA2_uc002uoh.2_Missense_Mutation_p.S289T|SSFA2_uc002uoj.2_Missense_Mutation_p.S289T|SSFA2_uc002uok.2_RNA|SSFA2_uc010zfo.1_Missense_Mutation_p.S136T|SSFA2_uc002uol.2_Missense_Mutation_p.S136T NM_001130445 NP_001123917 P28290 SSFA2_HUMAN sperm specific antigen 2 isoform 1 289 cytoplasm|plasma membrane actin binding breast(1)|central_nervous_system(1) 2 OV - Ovarian serous cystadenocarcinoma(117;0.0856) TTAACTCGAAGTAACACTGCA 0.418 NA 16 35 0 0 0.004007 0 0 PARD3B 117583 broad.mit.edu 37 2 205986319 205986319 + Missense_Mutation SNP C C A TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr2:205986319C>A uc002var.1 + 8 1018 c.811C>A c.(811-813)CAA>AAA p.Q271K PARD3B_uc010fub.1_Missense_Mutation_p.Q271K|PARD3B_uc002vao.1_Missense_Mutation_p.Q271K|PARD3B_uc002vap.1_Missense_Mutation_p.Q271K|PARD3B_uc002vaq.1_Missense_Mutation_p.Q271K NM_152526 NP_689739 Q8TEW8 PAR3L_HUMAN par-3 partitioning defective 3 homolog B isoform 271 PDZ 1. cell cycle|cell division endomembrane system|tight junction skin(2)|ovary(1)|breast(1) 4 all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06) Epithelial(149;0.0739) TTCCAGGGCTCAAGATGTCTT 0.483 NA 13 108 0.00074312 0.000795539 0.006122 1 0 INO80D 54891 broad.mit.edu 37 2 206872011 206872011 + Missense_Mutation SNP C C G TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr2:206872011C>G uc002vaz.3 - 10 2320 c.1915G>C c.(1915-1917)GAA>CAA p.E639Q NM_017759 NP_060229 Q53TQ3 IN80D_HUMAN INO80 complex subunit D 639 DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ovary(1) 1 ACTATACCTTCAAAAAAATCA 0.348 NA 9 20 0 0 0.008291 0 0 C2orf80 389073 broad.mit.edu 37 2 209051687 209051687 + Silent SNP C C T TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr2:209051687C>T uc002vcr.2 - 2 196 c.24G>A c.(22-24)AAG>AAA p.K8K NM_001099334 NP_001092804 Q0P641 CB080_HUMAN hypothetical protein LOC389073 8 skin(1) 1 TTTTCATTTCCTTCTTTATGA 0.423 NA 14 23 0 0 0.007413 0 0 CPS1 1373 broad.mit.edu 37 2 211481168 211481168 + Missense_Mutation SNP C C A TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr2:211481168C>A uc002vee.3 + 21 2722 c.2590C>A c.(2590-2592)CTT>ATT p.L864I CPS1_uc010fur.2_Missense_Mutation_p.L870I|CPS1_uc010fus.2_Missense_Mutation_p.L413I|LOC29034_uc002vef.2_5'Flank NM_001875 NP_001866 P31327 CPSM_HUMAN carbamoyl-phosphate synthetase 1 isoform b 864 carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle mitochondrial nucleoid ATP binding|carbamoyl-phosphate synthase (ammonia) activity ovary(8)|central_nervous_system(3)|breast(1)|skin(1) 13 Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843) CAACATGTCCCTTGATGAGAT 0.363 NA 17 60 3.08376e-08 3.85284e-08 0.00333 1 0 VWC2L 402117 broad.mit.edu 37 2 215440422 215440422 + Missense_Mutation SNP A A G TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr2:215440422A>G uc002vet.2 + 4 677 c.547A>G c.(547-549)ATA>GTA p.I183V VWC2L_uc010zjl.1_Silent_p.R139R NM_001080500 NP_001073969 B2RUY7 VWC2L_HUMAN von Willebrand factor C domain-containing 183 extracellular region 0 AGGAACGACGATAATTCCAGC 0.463 NA 48 119 0 0 0.01441 0 0 RNF25 64320 broad.mit.edu 37 2 219532829 219532829 + Missense_Mutation SNP C C A TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr2:219532829C>A uc002vit.2 - 4 348 c.260G>T c.(259-261)CGA>CTA p.R87L RNF25_uc010fvw.2_5'UTR NM_022453 NP_071898 Q96BH1 RNF25_HUMAN ring finger protein 25 87 RWD. positive regulation of NF-kappaB transcription factor activity cytosol|nucleus NF-kappaB binding|ubiquitin-protein ligase activity|zinc ion binding ovary(1)|central_nervous_system(1) 2 Renal(207;0.0474) Epithelial(149;6.99e-07)|all cancers(144;0.000129)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) TGAAAGTCCTCGGGGATTTCG 0.512 NA 119 219 6.08857e-40 1.09467e-39 0.01441 1 0 ESPNL 339768 broad.mit.edu 37 2 239040110 239040110 + Missense_Mutation SNP T T A TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr2:239040110T>A uc002vxq.3 + 9 2865 c.2755T>A c.(2755-2757)TTC>ATC p.F919I ESPNL_uc010fyw.2_Missense_Mutation_p.F615I NM_194312 NP_919288 Q6ZVH7 ESPNL_HUMAN espin-like 919 pancreas(1) 1 Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244) Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253) GACCGACGGCTTCGAGGACAT 0.711 NA 8 12 0 0 0.008291 0 0 RSPO4 343637 broad.mit.edu 37 20 947845 947845 + Missense_Mutation SNP C C A TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr20:947845C>A uc002wej.2 - 3 478 c.381G>T c.(379-381)TTG>TTT p.L127F RSPO4_uc002wek.2_Missense_Mutation_p.L127F NM_001029871 NP_001025042 Q2I0M5 RSPO4_HUMAN R-spondin family, member 4 isoform 1 precursor 127 FU. Wnt receptor signaling pathway extracellular region heparin binding 0 TCTGGTGGGCCAAAGTGCCCG 0.637 NA 23 47 2.89027e-11 3.97701e-11 0.014323 1 0 CPXM1 56265 broad.mit.edu 37 20 2775049 2775049 + Silent SNP C C G TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr20:2775049C>G uc002wgu.2 - 14 2056 c.1992G>C c.(1990-1992)CTG>CTC p.L664L CPXM1_uc010gas.2_Silent_p.L590L NM_019609 NP_062555 Q96SM3 CPXM1_HUMAN carboxypeptidase X, member 1 precursor 664 cell adhesion|proteolysis metallocarboxypeptidase activity|zinc ion binding ovary(2)|skin(2) 4 CCCCTGGGGTCAGCAGACGCC 0.587 NA 15 45 0 0 0.006122 0 0 BPIL3 128859 broad.mit.edu 37 20 31625383 31625383 + Missense_Mutation SNP C C A TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr20:31625383C>A uc010zuc.1 + 8 685 c.685C>A c.(685-687)CAA>AAA p.Q229K BPIL3_uc010zud.1_Missense_Mutation_p.Q168K NM_174897 NP_777557 Q8NFQ5 BPIL3_HUMAN bactericidal/permeability-increasing 229 extracellular region lipid binding ovary(1)|pancreas(1) 2 GGTGCAGCAGCAAAAGGGCAA 0.607 NA 24 47 3.73148e-12 5.40855e-12 0.007291 1 0 SPAG4 6676 broad.mit.edu 37 20 34203957 34203957 + Missense_Mutation SNP C C T TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr20:34203957C>T uc002xdb.1 + 1 149 c.32C>T c.(31-33)TCG>TTG p.S11L SPAG4_uc010zvi.1_5'UTR NM_003116 NP_003107 Q9NPE6 SPAG4_HUMAN sperm associated antigen 4 11 spermatogenesis cilium|flagellar axoneme|integral to membrane structural molecule activity 0 Lung NSC(9;0.0053)|all_lung(11;0.00785) BRCA - Breast invasive adenocarcinoma(18;0.0127) GGCTCGGCCTCGTCCTCGCGC 0.677 NA 18 20 0 0 0.012319 0 0 ELMO2 63916 broad.mit.edu 37 20 45003949 45003949 + Missense_Mutation SNP T T C TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr20:45003949T>C uc002xrt.1 - 13 1201 c.991A>G c.(991-993)AGC>GGC p.S331G ELMO2_uc010zxq.1_Missense_Mutation_p.S63G|ELMO2_uc002xrs.1_Missense_Mutation_p.S78G|ELMO2_uc002xru.1_Missense_Mutation_p.S331G|ELMO2_uc010zxr.1_Missense_Mutation_p.S343G|ELMO2_uc010zxs.1_Missense_Mutation_p.S148G|ELMO2_uc002xrv.1_Missense_Mutation_p.S50G|ELMO2_uc002xrw.2_Missense_Mutation_p.S148G|ELMO2_uc002xrx.1_Missense_Mutation_p.S331G NM_133171 NP_573403 Q96JJ3 ELMO2_HUMAN engulfment and cell motility 2 331 ELMO. apoptosis|cell chemotaxis|phagocytosis cytoskeleton|cytosol|membrane lyase activity|receptor tyrosine kinase binding|SH3 domain binding ovary(1) 1 Myeloproliferative disorder(115;0.0122) GGGGCATTGCTAGGATCAGAC 0.488 NA 20 49 0 0 0.00278 0 0 KCNB1 3745 broad.mit.edu 37 20 47989689 47989689 + Missense_Mutation SNP G G T TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr20:47989689G>T uc002xur.1 - 2 2572 c.2408C>A c.(2407-2409)CCC>CAC p.P803H KCNB1_uc002xus.1_Missense_Mutation_p.P803H NM_004975 NP_004966 Q14721 KCNB1_HUMAN potassium voltage-gated channel, Shab-related 803 Cytoplasmic (Potential). energy reserve metabolic process|regulation of insulin secretion voltage-gated potassium channel complex protein binding|voltage-gated potassium channel activity pancreas(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166) AGGGGAGGTGGGTAAAGGGGA 0.522 NA 57 130 2.40265e-35 4.30475e-35 0.01441 1 0 MC3R 4159 broad.mit.edu 37 20 54824002 54824002 + Missense_Mutation SNP T T A TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr20:54824002T>A uc002xxb.2 + 1 215 c.103T>A c.(103-105)TGT>AGT p.C35S NM_019888 NP_063941 P41968 MC3R_HUMAN melanocortin 3 receptor 72 Extracellular (Potential). activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|positive regulation of cAMP biosynthetic process integral to plasma membrane melanocyte-stimulating hormone receptor activity|neuropeptide binding|protein binding ovary(2)|breast(2) 4 Colorectal(105;0.202) CAGCGCCTTCTGTGAGCAGGT 0.567 NA 40 83 0 0 0.01441 0 0 HRH3 11255 broad.mit.edu 37 20 60791330 60791330 + Missense_Mutation SNP G G T TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr20:60791330G>T uc002ycf.2 - 3 1367 c.1070C>A c.(1069-1071)GCC>GAC p.A357D HRH3_uc002ycg.2_Missense_Mutation_p.A277D|HRH3_uc002ych.2_Intron|HRH3_uc002yci.2_Missense_Mutation_p.A357D NM_007232 NP_009163 Q9Y5N1 HRH3_HUMAN histamine receptor H3 357 Cytoplasmic (Potential). G-protein signaling, coupled to cyclic nucleotide second messenger|neurotransmitter secretion integral to plasma membrane histamine receptor activity 0 Breast(26;7.76e-09) BRCA - Breast invasive adenocarcinoma(19;7.08e-07) Histamine Phosphate(DB00667) CAGCGACTTGGCCACTTTCCT 0.637 NA 10 17 3.07112e-06 3.59342e-06 0.010729 1 0 COL20A1 57642 broad.mit.edu 37 20 61950474 61950474 + Nonsense_Mutation SNP G G T TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr20:61950474G>T uc011aau.1 + 22 2828 c.2728G>T c.(2728-2730)GAG>TAG p.E910* COL20A1_uc011aav.1_Nonsense_Mutation_p.E731* NM_020882 NP_065933 Q9P218 COKA1_HUMAN collagen, type XX, alpha 1 910 TSP N-terminal. cell adhesion collagen|extracellular space structural molecule activity central_nervous_system(1) 1 all_cancers(38;1.39e-10) CCTACTTCCCGAGACACCCCG 0.657 NA 21 45 3.6726e-16 5.7953e-16 0.003954 1 0 SYNJ1 8867 broad.mit.edu 37 21 34038882 34038882 + Missense_Mutation SNP T T G TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr21:34038882T>G uc002yqh.2 - 16 1930 c.1930A>C c.(1930-1932)ACA>CCA p.T644P SYNJ1_uc011ads.1_Missense_Mutation_p.T600P|SYNJ1_uc002yqf.2_Missense_Mutation_p.T605P|SYNJ1_uc002yqg.2_Missense_Mutation_p.T600P|SYNJ1_uc002yqi.2_Missense_Mutation_p.T644P NM_003895 NP_003886 O43426 SYNJ1_HUMAN synaptojanin 1 isoform a 605 Catalytic (Potential). inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding ovary(4)|skin(1) 5 TGATTTGTTGTGCTACAAGAA 0.358 NA 13 36 0 0 0.013537 0 0 KCNE1 3753 broad.mit.edu 37 21 35821695 35821695 + Missense_Mutation SNP C C T TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr21:35821695C>T uc010gmp.2 - 2 668 c.238G>A c.(238-240)GTC>ATC p.V80I KCNE1_uc002ytz.2_Missense_Mutation_p.V80I|KCNE1_uc010gmq.2_Missense_Mutation_p.V80I|KCNE1_uc010gmr.2_Missense_Mutation_p.V80I|KCNE1_uc010gms.2_Missense_Mutation_p.V80I|KCNE1_uc002yua.2_RNA NM_001127670 NP_001121142 P15382 KCNE1_HUMAN potassium voltage-gated channel, Isk-related 80 Cytoplasmic (Potential). blood circulation|membrane depolarization|muscle contraction|sensory perception of sound lysosome delayed rectifier potassium channel activity|potassium channel regulator activity ovary(2) 2 Indapamide(DB00808) TCGATGTAGACGTTGAATGGG 0.552 NA 22 33 0 0 0.010504 0 0 BRWD1 54014 broad.mit.edu 37 21 40559292 40559292 + Missense_Mutation SNP T T A TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr21:40559292T>A uc002yxk.1 - 42 6762 c.6623A>T c.(6622-6624)CAT>CTT p.H2208L BRWD1_uc010goc.1_Missense_Mutation_p.H851L NM_018963 NP_061836 Q9NSI6 BRWD1_HUMAN bromodomain and WD repeat domain containing 1 2208 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus skin(3)|ovary(1) 4 Prostate(19;8.44e-08)|all_epithelial(19;0.223) CTTCTGATTATGCATACATGT 0.378 Melanoma(170;988 1986 4794 16843 39731) NA 16 27 0 0 0.00499 0 0 B3GALT5 10317 broad.mit.edu 37 21 41033144 41033144 + Missense_Mutation SNP G G A rs140140179 TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr21:41033144G>A uc002yyb.1 + 5 1250 c.658G>A c.(658-660)GTG>ATG p.V220M B3GALT5_uc002yye.2_Missense_Mutation_p.V220M|B3GALT5_uc002yyi.1_Missense_Mutation_p.V220M|B3GALT5_uc002yyj.1_Missense_Mutation_p.V220M|B3GALT5_uc002yyk.1_Missense_Mutation_p.V220M|B3GALT5_uc002yyl.1_Missense_Mutation_p.V220M|B3GALT5_uc002yym.1_Missense_Mutation_p.V220M NM_033173 NP_149363 Q9Y2C3 B3GT5_HUMAN UDP-Gal:betaGlcNAc beta 220 Lumenal (Potential). protein glycosylation endoplasmic reticulum|Golgi membrane|integral to membrane UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity skin(1) 1 Prostate(19;2.55e-06) CACCGGCTACGTGTTTTCTGG 0.522 NA 26 57 0 0 0.009535 0 0 SLC19A1 6573 broad.mit.edu 37 21 46951949 46951949 + Silent SNP G G T TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr21:46951949G>T uc002zhl.1 - 3 422 c.303C>A c.(301-303)CTC>CTA p.L101L SLC19A1_uc010gpy.1_Silent_p.L101L|SLC19A1_uc011aft.1_Silent_p.L61L|SLC19A1_uc002zhm.1_Silent_p.L101L|SLC19A1_uc010gpz.1_5'UTR NM_194255 NP_919231 P41440 S19A1_HUMAN solute carrier family 19 member 1 101 Helical; (Probable). folic acid metabolic process integral to plasma membrane|membrane fraction folic acid binding|folic acid transporter activity|methotrexate transporter activity|reduced folate carrier activity 0 Colorectal(79;0.0569)|READ - Rectum adenocarcinoma(84;0.172) ACACGAAGCTGAGCCCCTGCA 0.662 NA 6 42 0.00116845 0.00124057 0.001168 1 0 S100B 6285 broad.mit.edu 37 21 48022263 48022263 + Missense_Mutation SNP C C A TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr21:48022263C>A uc002zju.1 - 2 177 c.66G>T c.(64-66)GAG>GAT p.E22D S100B_uc002zjv.1_Missense_Mutation_p.E22D NM_006272 NP_006263 P04271 S100B_HUMAN S100 calcium-binding protein, beta 22 EF-hand 1.|1; low affinity. axonogenesis|cell proliferation|central nervous system development|innate immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade extracellular region|nucleus|perinuclear region of cytoplasm|ruffle calcium ion binding|calcium-dependent protein binding|protein homodimerization activity|RAGE receptor binding|S100 beta binding|tau protein binding|zinc ion binding 0 Breast(49;0.247) Lung NSC(3;0.245) OV - Ovarian serous cystadenocarcinoma(3;1.84e-06)|Epithelial(3;4.45e-06)|all cancers(3;2.07e-05)|Colorectal(79;0.241) GCTTGTCTCCCTCCCTTCCAG 0.478 NA 10 31 0.00621372 0.00642541 0.006214 1 0 CECR2 27443 broad.mit.edu 37 22 18028016 18028016 + Silent SNP G G T TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr22:18028016G>T uc010gqw.1 + 16 3099 c.2973G>T c.(2971-2973)GCG>GCT p.A991A CECR2_uc010gqv.1_Silent_p.A849A|CECR2_uc002zml.2_Silent_p.A850A|CECR2_uc002zmo.2_RNA NM_031413 NP_113601 Q9BXF3 CECR2_HUMAN cat eye syndrome chromosome region, candidate 2 1033 chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport protein binding ovary(1)|skin(1) 2 all_epithelial(15;0.139) Lung(27;0.146) CCGAATCTGCGGACAACTGTA 0.612 NA 6 9 8.12818e-05 9.0391e-05 0.001984 1 0 PPIL2 23759 broad.mit.edu 37 22 22036798 22036798 + Missense_Mutation SNP G G A TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr22:22036798G>A uc010gtj.1 + 8 576 c.460G>A c.(460-462)GAC>AAC p.D154N PPIL2_uc002zvh.3_Missense_Mutation_p.D154N|PPIL2_uc002zvi.3_Missense_Mutation_p.D154N|PPIL2_uc002zvg.3_Missense_Mutation_p.D154N|PPIL2_uc011aij.1_Missense_Mutation_p.D133N NM_148175 NP_680480 Q13356 PPIL2_HUMAN peptidylprolyl isomerase-like 2 isoform a 154 blood coagulation|leukocyte migration|protein folding|protein polyubiquitination Golgi lumen|nucleus|ubiquitin ligase complex peptidyl-prolyl cis-trans isomerase activity|ubiquitin-ubiquitin ligase activity ovary(2) 2 Colorectal(54;0.105) CTCCCGGCAGGACATCATCAC 0.612 NA 6 36 0 0 0.001984 0 0 CBX7 23492 broad.mit.edu 37 22 39530024 39530024 + Missense_Mutation SNP G G A TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr22:39530024G>A uc003axb.2 - 6 717 c.628C>T c.(628-630)CCC>TCC p.P210S CBX7_uc003axc.2_Missense_Mutation_p.P117S NM_175709 NP_783640 O95931 CBX7_HUMAN chromobox homolog 7 210 chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear chromatin|PcG protein complex ovary(1) 1 Melanoma(58;0.04) GGTGTCCAGGGAGGGGGCCCC 0.657 GBM(46;845 904 3560 9866 23971) NA 5 98 0 0 0.001168 0 0 KIAA1644 85352 broad.mit.edu 37 22 44692609 44692609 + Missense_Mutation SNP T T A TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr22:44692609T>A uc003bet.2 - 3 357 c.224A>T c.(223-225)GAG>GTG p.E75V NM_001099294 NP_001092764 Q3SXP7 K1644_HUMAN hypothetical protein LOC85352 precursor 75 Extracellular (Potential). integral to membrane ovary(1) 1 all_neural(38;0.0762)|Ovarian(80;0.105)|Glioma(61;0.222) CGCCTGGAACTCCGTCTCGTT 0.592 NA 34 138 0 0 0.004289 0 0 IL17RE 132014 broad.mit.edu 37 3 9948474 9948474 + Missense_Mutation SNP C C T TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr3:9948474C>T uc003btu.2 + 6 568 c.451C>T c.(451-453)CGC>TGC p.R151C CIDEC_uc003bto.2_Intron|IL17RE_uc003btv.2_Missense_Mutation_p.R151C|IL17RE_uc011atn.1_RNA|IL17RE_uc003btw.2_Missense_Mutation_p.R151C|IL17RE_uc003btx.2_Missense_Mutation_p.R35C|IL17RE_uc010hcq.2_Missense_Mutation_p.R151C|IL17RE_uc003bty.2_RNA NM_153483 NP_705616 Q8NFR9 I17RE_HUMAN interleukin 17 receptor E isoform 1 151 Extracellular (Potential). cytoplasm|extracellular region|integral to membrane receptor activity central_nervous_system(1) 1 OV - Ovarian serous cystadenocarcinoma(96;5.34e-64) CAAGGGACTTCGCTCTAAAAG 0.532 NA 6 129 0 0 0.001168 0 0 MKRN2 23609 broad.mit.edu 37 3 12613724 12613724 + Missense_Mutation SNP G G A TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr3:12613724G>A uc003bxd.2 + 4 550 c.494G>A c.(493-495)AGC>AAC p.S165N MKRN2_uc003bxe.2_Missense_Mutation_p.S163N|MKRN2_uc011aus.1_Missense_Mutation_p.S122N NM_014160 NP_054879 Q9H000 MKRN2_HUMAN makorin ring finger protein 2 165 C3H1-type 3. intracellular ligase activity|nucleic acid binding|zinc ion binding 0 AGCTCCTACAGCAACGAGCAG 0.627 NA 18 35 0 0 0.008871 0 0 IQSEC1 9922 broad.mit.edu 37 3 12950774 12950774 + Missense_Mutation SNP C C A TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr3:12950774C>A uc003bxt.2 - 11 2628 c.2619G>T c.(2617-2619)GAG>GAT p.E873D IQSEC1_uc003bxu.3_Missense_Mutation_p.E751D|IQSEC1_uc011auw.1_Missense_Mutation_p.E859D NM_014869 NP_055684 Q6DN90 IQEC1_HUMAN IQ motif and Sec7 domain 1 isoform b 873 Potential. regulation of ARF protein signal transduction cytoplasm|nucleus ARF guanyl-nucleotide exchange factor activity ovary(1) 1 GGTACTCACACTCTATCCTGT 0.547 NA 25 90 1.77063e-15 2.73547e-15 0.005443 1 0 NEK10 152110 broad.mit.edu 37 3 27346303 27346303 + Silent SNP G G A TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr3:27346303G>A uc003cdt.1 - 13 1237 c.963C>T c.(961-963)GAC>GAT p.D321D NM_199347 NP_955379 Q6ZWH5 NEK10_HUMAN NIMA-related kinase 10 isoform 3 321 ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(5)|stomach(2)|central_nervous_system(2)|lung(2)|skin(1)|pancreas(1) 13 TGGTCTCAGGGTCCTCACAAA 0.507 NA 11 30 0 0 0.00245 0 0 ZNF445 353274 broad.mit.edu 37 3 44488733 44488733 + Missense_Mutation SNP C C A TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr3:44488733C>A uc003cnf.2 - 8 2778 c.2430G>T c.(2428-2430)AGG>AGT p.R810S ZNF445_uc011azv.1_Missense_Mutation_p.R798S|ZNF445_uc011azw.1_Missense_Mutation_p.R810S NM_181489 NP_852466 P59923 ZN445_HUMAN zinc finger protein 445 810 C2H2-type 9. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646) GAGAGTGAATCCTCTGATGTC 0.443 NA 19 36 2.37509e-13 3.55231e-13 0.010504 1 0 ZNF167 55888 broad.mit.edu 37 3 44598651 44598651 + Nonsense_Mutation SNP C C T TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr3:44598651C>T uc010hin.2 + 2 500 c.112C>T c.(112-114)CAG>TAG p.Q38* ZNF167_uc003cnh.2_RNA|ZNF167_uc003cni.2_Nonsense_Mutation_p.Q38*|ZNF167_uc010hio.2_Intron|ZNF167_uc003cnj.2_Nonsense_Mutation_p.Q38*|ZNF167_uc003cnk.2_Nonsense_Mutation_p.Q38* NM_018651 NP_061121 Q9P0L1 ZN167_HUMAN zinc finger protein 167 isoform 1 38 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2) 2 KIRC - Kidney renal clear cell carcinoma(197;0.0486)|Kidney(197;0.0609) GACCTGGGGGCAGGGCAGCAG 0.572 Esophageal Squamous(121;907 1626 38429 48584 52774) NA 14 33 0 0 0.003163 0 0 DUSP7 1849 broad.mit.edu 37 3 52090174 52090174 + Missense_Mutation SNP G G A TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr3:52090174G>A uc003dct.2 - 1 288 c.209C>T c.(208-210)GCG>GTG p.A70V DUSP7_uc010hma.2_Missense_Mutation_p.A70V NM_001947 NP_001938 Q16829 DUS7_HUMAN dual specificity phosphatase 7 70 Rhodanese. inactivation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm MAP kinase tyrosine/serine/threonine phosphatase activity|protein binding|protein tyrosine phosphatase activity ovary(1) 1 BRCA - Breast invasive adenocarcinoma(193;5.14e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) CAGCAAGGACGCGCCGCCGCG 0.547 NA 8 8 0 0 0.004482 0 0 TMF1 7110 broad.mit.edu 37 3 69077407 69077407 + Silent SNP T T A TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr3:69077407T>A uc003dnn.2 - 12 2881 c.2634A>T c.(2632-2634)GTA>GTT p.V878V TMF1_uc011bfx.1_Silent_p.V881V NM_007114 NP_009045 P82094 TMF1_HUMAN TATA element modulatory factor 1 878 Potential. regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter Golgi membrane|nucleus DNA binding|protein binding|transcription cofactor activity 0 Lung NSC(201;0.0193)|Prostate(884;0.174) BRCA - Breast invasive adenocarcinoma(55;4.48e-05)|Epithelial(33;0.000274)|LUSC - Lung squamous cell carcinoma(21;0.0123)|KIRC - Kidney renal clear cell carcinoma(39;0.211)|Kidney(39;0.247) CAAGTGTTCTTACATATTCAT 0.353 NA 6 26 0 0 0.001984 0 0 PDZRN3 23024 broad.mit.edu 37 3 73432857 73432857 + Missense_Mutation SNP G G C TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr3:73432857G>C uc003dpl.1 - 10 2956 c.2860C>G c.(2860-2862)CGC>GGC p.R954G PDZRN3_uc011bgh.1_Missense_Mutation_p.R611G|PDZRN3_uc010hoe.1_Missense_Mutation_p.R652G|PDZRN3_uc011bgf.1_Missense_Mutation_p.R671G|PDZRN3_uc011bgg.1_Missense_Mutation_p.R674G NM_015009 NP_055824 Q9UPQ7 PZRN3_HUMAN PDZ domain containing ring finger 3 954 ubiquitin-protein ligase activity|zinc ion binding pancreas(2)|ovary(2)|skin(2)|large_intestine(1) 7 Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236) BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134) ATGCCGCTGCGCTCTTCCCGG 0.657 NA 14 40 0 0 0.00245 0 0 CNTN3 5067 broad.mit.edu 37 3 74548901 74548901 + Missense_Mutation SNP C C G TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr3:74548901C>G uc003dpm.1 - 2 171 c.91G>C c.(91-93)GAA>CAA p.E31Q NM_020872 NP_065923 Q9P232 CNTN3_HUMAN contactin 3 precursor 31 Ig-like C2-type 1. cell adhesion anchored to membrane|plasma membrane protein binding breast(3)|ovary(1)|skin(1) 5 Lung NSC(201;0.138)|Lung SC(41;0.21) Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01) TTGCTGGGTTCTTTGATAAAT 0.378 NA 17 52 0 0 0.003954 0 0 HTR1F 3355 broad.mit.edu 37 3 88040885 88040885 + Missense_Mutation SNP C C T TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr3:88040885C>T uc003dqr.2 + 2 1144 c.986C>T c.(985-987)TCC>TTC p.S329F NM_000866 NP_000857 P30939 5HT1F_HUMAN 5-hydroxytryptamine (serotonin) receptor 1F 329 Extracellular (By similarity). G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission integral to plasma membrane serotonin binding|serotonin receptor activity ovary(3) 3 all_cancers(8;0.147) Lung NSC(201;0.0283) LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00664) Eletriptan(DB00216)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Zolmitriptan(DB00315) GAAGAAATGTCCAATTTTTTG 0.323 NA 3 25 0 0 0.000602 0 0 EPHA3 2042 broad.mit.edu 37 3 89390222 89390222 + Splice_Site SNP G G A TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr3:89390222G>A uc003dqy.2 + 4 1195 c.970_splice c.e4+1 p.R324_splice EPHA3_uc003dqx.1_Splice_Site_p.R324_splice|EPHA3_uc010hon.1_Splice_Site NM_005233 NP_005224 P29320 EPHA3_HUMAN ephrin receptor EphA3 isoform a precursor extracellular region|integral to plasma membrane ATP binding lung(17)|ovary(7)|large_intestine(4)|central_nervous_system(2)|stomach(1)|skin(1)|pancreas(1) 33 all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612) Lung NSC(201;0.0782) LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942) GCTTGTACCCGTGAGTAGTTT 0.443 NA TSP Lung(6;0.00050) 21 83 0 0 0.00278 0 0 PROS1 5627 broad.mit.edu 37 3 93593219 93593219 + Missense_Mutation SNP G G T TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr3:93593219G>T uc003drb.3 - 15 2242 c.1901C>A c.(1900-1902)GCC>GAC p.A634D PROS1_uc010hoo.2_Missense_Mutation_p.A503D|PROS1_uc003dqz.3_Missense_Mutation_p.A503D NM_000313 NP_000304 P07225 PROS_HUMAN protein S, alpha preproprotein 634 Laminin G-like 2. leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis endoplasmic reticulum membrane|extracellular region|Golgi lumen|Golgi membrane|platelet alpha granule lumen calcium ion binding|endopeptidase inhibitor activity large_intestine(1) 1 Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170) ATTATAAAAGGCATTCACTGG 0.358 NA 6 16 0.00307968 0.00322991 0.00308 1 0 ZPLD1 131368 broad.mit.edu 37 3 102187852 102187852 + Missense_Mutation SNP G G C TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr3:102187852G>C uc003dvs.1 + 15 1688 c.806G>C c.(805-807)AGC>ACC p.S269T ZPLD1_uc003dvt.1_Missense_Mutation_p.S285T|ZPLD1_uc011bhg.1_Missense_Mutation_p.S269T NM_175056 NP_778226 Q8TCW7 ZPLD1_HUMAN zona pellucida-like domain containing 1 269 ZP.|Extracellular (Potential). integral to membrane ovary(2)|skin(2)|central_nervous_system(1) 5 AATGGCCGAAGCCAGCGGGGC 0.478 NA 17 27 0 0 0.008871 0 0 MYH15 22989 broad.mit.edu 37 3 108179195 108179195 + Silent SNP C C T TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr3:108179195C>T uc003dxa.1 - 18 2001 c.1944G>A c.(1942-1944)AAG>AAA p.K648K NM_014981 NP_055796 Q9Y2K3 MYH15_HUMAN myosin, heavy polypeptide 15 648 Myosin head-like. myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity ovary(5)|central_nervous_system(2) 7 TCTTTCGTTTCTTCTCCCCAA 0.269 NA 6 10 0 0 0.001168 0 0 MORC1 27136 broad.mit.edu 37 3 108818286 108818286 + Missense_Mutation SNP A A C TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr3:108818286A>C uc003dxl.2 - 6 429 c.342T>G c.(340-342)TTT>TTG p.F114L MORC1_uc011bhn.1_Missense_Mutation_p.F114L NM_014429 NP_055244 Q86VD1 MORC1_HUMAN MORC family CW-type zinc finger 1 114 cell differentiation|multicellular organismal development|spermatogenesis nucleus ATP binding|zinc ion binding ovary(3)|skin(3)|breast(2) 8 TAAAAAGAATAAAGTCTTTTC 0.343 NA 3 11 0 0 0.009096 0 0 BFSP2 8419 broad.mit.edu 37 3 133119269 133119269 + Missense_Mutation SNP C C G TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr3:133119269C>G uc003epn.1 + 1 480 c.342C>G c.(340-342)TGC>TGG p.C114W NM_003571 NP_003562 Q13515 BFSP2_HUMAN phakinin 114 Head. response to stimulus|visual perception cytoplasm|intermediate filament|membrane structural constituent of cytoskeleton|structural constituent of eye lens 0 TAGGGGGCTGCCTGGTGGAAT 0.612 NA 13 62 0 0 0.00245 0 0 STAG1 10274 broad.mit.edu 37 3 136117607 136117607 + Missense_Mutation SNP T T C TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr3:136117607T>C uc003era.1 - 22 2553 c.2261A>G c.(2260-2262)GAT>GGT p.D754G STAG1_uc003erb.1_Missense_Mutation_p.D754G|STAG1_uc003erc.1_Missense_Mutation_p.D528G NM_005862 NP_005853 Q8WVM7 STAG1_HUMAN stromal antigen 1 754 cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase cell junction|chromatin|chromosome, centromeric region|nucleoplasm protein binding ovary(2) 2 AGGAGAGCCATCAGTAATTTT 0.294 NA 16 18 0 0 0.012319 0 0 PAQR9 344838 broad.mit.edu 37 3 142681067 142681067 + Missense_Mutation SNP G G T TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr3:142681067G>T uc003evg.2 - 1 1112 c.1112C>A c.(1111-1113)TCC>TAC p.S371Y PAQR9_uc003evf.1_RNA NM_198504 NP_940906 Q6ZVX9 PAQR9_HUMAN progestin and adipoQ receptor family member IX 371 Extracellular (Potential). integral to membrane receptor activity 0 GCAGAATTCGGAGCTGTTTAG 0.532 NA 25 84 2.65835e-16 4.20769e-16 0.007291 1 0 SI 6476 broad.mit.edu 37 3 164777757 164777757 + Missense_Mutation SNP C C A TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr3:164777757C>A uc003fei.2 - 10 1141 c.1079G>T c.(1078-1080)TGG>TTG p.W360L NM_001041 NP_001032 P14410 SUIS_HUMAN sucrase-isomaltase 360 Lumenal.|Isomaltase. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|brush border|Golgi apparatus|integral to membrane carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1) 14 Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199) Acarbose(DB00284) CTTATAATTCCAGCGACTTAG 0.373 NA HNSCC(35;0.089) 36 99 2.52637e-11 3.53281e-11 0.005524 1 0 WDR49 151790 broad.mit.edu 37 3 167322098 167322098 + Missense_Mutation SNP T T A TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr3:167322098T>A uc003fev.1 - 2 400 c.94A>T c.(94-96)AAT>TAT p.N32Y WDR49_uc011bpd.1_Missense_Mutation_p.N85Y|WDR49_uc003few.1_Missense_Mutation_p.N373Y NM_178824 NP_849146 Q8IV35 WDR49_HUMAN WD repeat domain 49 32 WD 1. large_intestine(1)|ovary(1)|skin(1) 3 CCAATTAAATTGAGCCGAGAG 0.388 NA 8 27 0 0 0.006214 0 0 ATP11B 23200 broad.mit.edu 37 3 182591803 182591804 + Splice_Site DNP GG GG TT TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 GG GG - - GG GG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr3:182591803_182591804GG>TT uc003flb.2 + 19 2509 c.2252_splice c.e19+1 p.R751_splice ATP11B_uc003flc.2_Splice_Site_p.R335_splice|ATP11B_uc011bqm.1_Splice_Site_p.R55_splice|ATP11B_uc010hxf.1_Splice_Site NM_014616 NP_055431 Q9Y2G3 AT11B_HUMAN ATPase, class VI, type 11B aminophospholipid transport|ATP biosynthetic process integral to membrane|nuclear inner membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity ovary(2)|pancreas(1) 3 all_cancers(143;9.04e-15)|Ovarian(172;0.0355) all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20) CTTGCCAGAAGGTAAGAATATA 0.257 NA 6 13 0 0 0.004672 0 0 ZNF595 152687 broad.mit.edu 37 4 86116 86116 + Missense_Mutation SNP C C T TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr4:86116C>T uc003fzv.1 + 6 878 c.722C>T c.(721-723)ACA>ATA p.T241I ZNF595_uc003fzu.1_Intron|ZNF718_uc003fzt.3_Intron|ZNF595_uc011bus.1_Missense_Mutation_p.T9I|ZNF595_uc011but.1_Missense_Mutation_p.T9I NM_182524 NP_872330 Q7Z3I0 Q7Z3I0_HUMAN zinc finger protein 595 241 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding 0 all_cancers(4;0.0738)|all_epithelial(65;0.139) Lung(54;0.0654)|Epithelial(2;0.0921)|all cancers(2;0.146)|LUSC - Lung squamous cell carcinoma(95;0.173) AGACGGTCCACAGTTCTGAAC 0.413 NA 11 26 0 0 0.010729 0 0 GAK 2580 broad.mit.edu 37 4 891884 891884 + Silent SNP C C A TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr4:891884C>A uc003gbm.3 - 6 787 c.588G>T c.(586-588)ACG>ACT p.T196T GAK_uc003gbn.3_Silent_p.T117T|GAK_uc010ibk.1_Silent_p.T90T|GAK_uc003gbl.3_Silent_p.T60T NM_005255 NP_005246 O14976 GAK_HUMAN cyclin G associated kinase 196 Protein kinase. cell cycle focal adhesion|Golgi apparatus|perinuclear region of cytoplasm ATP binding|heat shock protein binding|protein serine/threonine kinase activity lung(2)|central_nervous_system(1)|skin(1) 4 Colorectal(103;0.219) GCGAGATGGTCGTGGCACTGC 0.567 NA 10 21 6.40141e-05 7.14963e-05 0.010729 1 0 POLN 353497 broad.mit.edu 37 4 2209923 2209923 + Missense_Mutation SNP T T C TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr4:2209923T>C uc003ger.2 - 3 505 c.505A>G c.(505-507)AGT>GGT p.S169G POLN_uc010ich.1_5'UTR|POLN_uc011bvi.1_Missense_Mutation_p.S169G NM_181808 NP_861524 Q7Z5Q5 DPOLN_HUMAN DNA-directed DNA polymerase nu 169 DNA repair|DNA replication nucleus DNA binding|DNA-directed DNA polymerase activity kidney(2)|ovary(1)|skin(1) 4 OV - Ovarian serous cystadenocarcinoma(23;0.0955) ATTTGTTTACTTGTTTTCTCT 0.303 NA DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage 4 15 0 0 0.009096 0 0 BOD1L 259282 broad.mit.edu 37 4 13603505 13603505 + Missense_Mutation SNP T T C rs145172802 TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr4:13603505T>C uc003gmz.1 - 10 5136 c.5019A>G c.(5017-5019)ATA>ATG p.I1673M BOD1L_uc010idr.1_Missense_Mutation_p.I1010M NM_148894 NP_683692 Q8NFC6 BOD1L_HUMAN biorientation of chromosomes in cell division 1673 DNA binding ovary(5)|breast(1) 6 TTCCTTCAACTATTTCTGAGT 0.393 NA 60 109 0 0 0.01441 0 0 OCIAD2 132299 broad.mit.edu 37 4 48899870 48899870 + Silent SNP C C T TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr4:48899870C>T uc003gyt.2 - 4 371 c.168G>A c.(166-168)CTG>CTA p.L56L OCIAD2_uc003gyu.2_Silent_p.L56L NM_001014446 NP_001014446 Q56VL3 OCAD2_HUMAN OCIA domain containing 2 isoform 1 56 OCIA. endosome 0 GAGAAAAAGGCAGAGCTGTAA 0.353 NA 7 31 0 0 0.006214 0 0 EPHA5 2044 broad.mit.edu 37 4 66467428 66467428 + Nonsense_Mutation SNP C C A TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr4:66467428C>A uc003hcy.2 - 3 1034 c.841G>T c.(841-843)GAG>TAG p.E281* EPHA5_uc003hcx.2_Nonsense_Mutation_p.E212*|EPHA5_uc003hcz.2_Nonsense_Mutation_p.E281*|EPHA5_uc011cah.1_Nonsense_Mutation_p.E281*|EPHA5_uc011cai.1_Nonsense_Mutation_p.E281*|EPHA5_uc003hda.2_Nonsense_Mutation_p.E281* NM_004439 NP_004430 P54756 EPHA5_HUMAN ephrin receptor EphA5 isoform a precursor 281 Extracellular (Potential).|Cys-rich. cAMP-mediated signaling|neuron development dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum ATP binding|transmembrane-ephrin receptor activity lung(19)|stomach(2)|ovary(2)|central_nervous_system(1) 24 ACCAGCCACTCCCCTTCGGCG 0.532 NA TSP Lung(17;0.13) 21 65 7.88262e-20 1.30786e-19 0.00333 1 0 TMPRSS11D 9407 broad.mit.edu 37 4 68699078 68699078 + Missense_Mutation SNP A A T TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr4:68699078A>T uc003hdq.2 - 7 601 c.536T>A c.(535-537)CTA>CAA p.L179Q LOC550112_uc003hdl.3_Intron|TMPRSS11D_uc003hdp.2_5'UTR|TMPRSS11D_uc011caj.1_Missense_Mutation_p.L62Q NM_004262 NP_004253 O60235 TM11D_HUMAN transmembrane protease, serine 11D 179 Extracellular (Potential). proteolysis|respiratory gaseous exchange extracellular region|integral to plasma membrane serine-type endopeptidase activity ovary(1) 1 CAATGTTATTAGGTCTGGACC 0.488 NA 68 121 0 0 0.01441 0 0 C4orf35 85438 broad.mit.edu 37 4 71201476 71201476 + Silent SNP C C A TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr4:71201476C>A uc003hff.2 + 1 806 c.720C>A c.(718-720)ACC>ACA p.T240T NM_033122 NP_149113 Q96KC9 CABS1_HUMAN testis development protein NYD-SP26 240 flagellum calcium ion binding 0 all_hematologic(202;0.196) AGAAAATAACCGAAATTGACC 0.418 NA 7 37 5.18039e-06 6.03405e-06 0.00308 1 0 SEC31A 22872 broad.mit.edu 37 4 83748591 83748591 + Silent SNP G G T TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr4:83748591G>T uc003hnf.2 - 24 3386 c.3222C>A c.(3220-3222)GGC>GGA p.G1074G SEC31A_uc003hnd.2_Silent_p.G243G|SEC31A_uc003hne.2_Silent_p.G823G|SEC31A_uc011ccl.1_Silent_p.G1020G|SEC31A_uc003hnl.2_Silent_p.G921G|SEC31A_uc003hng.2_Silent_p.G1059G|SEC31A_uc003hnh.2_Silent_p.G1074G|SEC31A_uc003hni.2_Silent_p.G960G|SEC31A_uc003hnj.2_Silent_p.G1035G|SEC31A_uc011ccm.1_Silent_p.G1054G|SEC31A_uc011ccn.1_Silent_p.G1059G|SEC31A_uc003hnk.2_Silent_p.G1035G|SEC31A_uc003hnm.2_Silent_p.G1074G NM_001077207 NP_001070675 O94979 SC31A_HUMAN SEC31 homolog A isoform 1 1074 Interaction with PDCD6.|Pro-rich. COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|response to calcium ion COPII vesicle coat|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm calcium-dependent protein binding SEC31A/JAK2(4)|SEC31A/ALK(3) haematopoietic_and_lymphoid_tissue(4)|soft_tissue(3)|breast(1) 8 Hepatocellular(203;0.114) ATGGTGGCATGCCTGTTTGAC 0.502 NA 39 84 5.71845e-15 8.67859e-15 0.005524 1 0 Unknown 0 broad.mit.edu 37 4 88814021 88814021 + Missense_Mutation SNP T T A TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr4:88814021T>A uc010iko.1 + 3 854 c.854T>A c.(853-855)CTT>CAT p.L285H SubName: Full=Heat shock protein 90kDa alpha (Cytosolic), class B member 1, isoform CRA_a; SubName: Full=cDNA, FLJ92550, Homo sapiens heat shock 90kDa protein 1, beta (HSPCB), mRNA; NA CCCTTTGACCTTTTTGAGAAC 0.443 NA 29 75 0 0 0.010818 0 0 GRID2 2895 broad.mit.edu 37 4 94006431 94006431 + Splice_Site SNP G G A TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr4:94006431G>A uc011cdt.1 + 3 787 c.529_splice c.e3+1 p.D177_splice GRID2_uc010ikx.2_Splice_Site_p.D177_splice|GRID2_uc011cdu.1_Intron|GRID2_uc011cdv.1_Splice_Site NM_001510 NP_001501 O43424 GRID2_HUMAN glutamate receptor, ionotropic, delta 2 glutamate signaling pathway cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity ovary(3)|skin(2)|large_intestine(1) 6 Hepatocellular(203;0.114)|all_hematologic(202;0.177) OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191) L-Glutamic Acid(DB00142) AGTGAATACGGTAAGTGTTTA 0.343 NA 17 55 0 0 0.00499 0 0 PCDH10 57575 broad.mit.edu 37 4 134072410 134072410 + Missense_Mutation SNP C C A TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr4:134072410C>A uc003iha.2 + 1 1941 c.1115C>A c.(1114-1116)GCG>GAG p.A372E uc003igy.2_5'Flank|PCDH10_uc003igz.2_Missense_Mutation_p.A372E NM_032961 NP_116586 Q9P2E7 PCD10_HUMAN protocadherin 10 isoform 1 precursor 372 Cadherin 4.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2) 2 LUSC - Lung squamous cell carcinoma(193;0.227) GAGGGCGCGGCGCCCGGCACT 0.622 NA 33 46 4.31634e-10 5.78144e-10 0.012213 1 0 FSTL5 56884 broad.mit.edu 37 4 162380377 162380377 + Nonsense_Mutation SNP G G T TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr4:162380377G>T uc003iqh.2 - 14 2139 c.1703C>A c.(1702-1704)TCA>TAA p.S568* FSTL5_uc003iqi.2_Nonsense_Mutation_p.S567*|FSTL5_uc010iqv.2_Nonsense_Mutation_p.S558* NM_020116 NP_064501 Q8N475 FSTL5_HUMAN follistatin-like 5 isoform a 568 extracellular region calcium ion binding ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|skin(1) 8 all_hematologic(180;0.24) COAD - Colon adenocarcinoma(41;0.179) TAGTGTTGGTGATGTCTTCTC 0.373 NA 18 34 1.36565e-18 2.23706e-18 0.00278 1 0 DDX60L 91351 broad.mit.edu 37 4 169341505 169341505 + Silent SNP A A T TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr4:169341505A>T uc003irq.3 - 18 2642 c.2421T>A c.(2419-2421)ACT>ACA p.T807T DDX60L_uc003irr.1_Silent_p.T807T|DDX60L_uc003irs.1_Silent_p.T534T NM_001012967 NP_001012985 Q5H9U9 DDX6L_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like 807 Helicase ATP-binding. ATP binding|ATP-dependent helicase activity|RNA binding ovary(1) 1 Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132) GBM - Glioblastoma multiforme(119;0.175) GATTCTCAACAGTTGCAGCCA 0.403 NA 5 14 0 0 0.000602 0 0 ADAMTS16 170690 broad.mit.edu 37 5 5146296 5146296 + Missense_Mutation SNP C C A TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr5:5146296C>A uc003jdl.2 + 3 367 c.229C>A c.(229-231)CAT>AAT p.H77N ADAMTS16_uc003jdk.1_Missense_Mutation_p.H77N|ADAMTS16_uc003jdj.1_Missense_Mutation_p.H77N NM_139056 NP_620687 Q8TE57 ATS16_HUMAN ADAM metallopeptidase with thrombospondin type 1 77 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(3)|lung(2)|large_intestine(1)|breast(1)|pancreas(1) 8 TTACGTGTCCCATGAAATCAT 0.532 NA 18 77 2.94398e-08 3.70511e-08 0.007413 1 0 ADCY2 108 broad.mit.edu 37 5 7766919 7766919 + Silent SNP G G T TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr5:7766919G>T uc003jdz.1 + 17 2281 c.2214G>T c.(2212-2214)CCG>CCT p.P738P ADCY2_uc011cmo.1_Silent_p.P558P NM_020546 NP_065433 Q08462 ADCY2_HUMAN adenylate cyclase 2 738 Helical; (Potential). activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport cytoplasm|dendrite|integral to membrane|plasma membrane ATP binding|metal ion binding ovary(5)|pancreas(1)|skin(1) 7 TTTTCCTCCCGGTAAGAACAT 0.423 NA 43 175 2.01807e-28 3.51799e-28 0.01441 1 0 SEMA5A 9037 broad.mit.edu 37 5 9052006 9052006 + Missense_Mutation SNP A A G TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr5:9052006A>G uc003jek.2 - 20 3536 c.2824T>C c.(2824-2826)TTT>CTT p.F942L NM_003966 NP_003957 Q13591 SEM5A_HUMAN semaphorin 5A precursor 942 Extracellular (Potential).|TSP type-1 7. cell adhesion|cell-cell signaling integral to membrane|plasma membrane ovary(1)|central_nervous_system(1) 2 TTAGAGTCAAACACACACGGC 0.507 NA 23 65 0 0 0.00333 0 0 FBXL7 23194 broad.mit.edu 37 5 15928183 15928183 + Silent SNP C C A TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr5:15928183C>A uc003jfn.1 + 3 793 c.312C>A c.(310-312)GCC>GCA p.A104A NM_012304 NP_036436 Q9UJT9 FBXL7_HUMAN F-box and leucine-rich repeat protein 7 104 ubiquitin-dependent protein catabolic process ubiquitin ligase complex protein binding|ubiquitin-protein ligase activity ovary(2)|lung(1) 3 TCCGGCTCGCCTCCAGACCCC 0.687 NA 7 28 0.00198382 0.00209335 0.001984 1 0 PRDM9 56979 broad.mit.edu 37 5 23526445 23526445 + Missense_Mutation SNP C C A TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr5:23526445C>A uc003jgo.2 + 11 1430 c.1248C>A c.(1246-1248)TTC>TTA p.F416L NM_020227 NP_064612 Q9NQV7 PRDM9_HUMAN PR domain containing 9 416 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 CTCAGAACTTCCCAGGACCAT 0.488 NA HNSCC(3;0.000094) 23 84 2.89027e-11 3.97701e-11 0.014323 1 0 CDH10 1008 broad.mit.edu 37 5 24491722 24491722 + Silent SNP G G T rs141786276 TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr5:24491722G>T uc003jgr.1 - 11 2171 c.1839C>A c.(1837-1839)GCC>GCA p.A613A CDH10_uc011cnu.1_RNA NM_006727 NP_006718 Q9Y6N8 CAD10_HUMAN cadherin 10, type 2 preproprotein 613 Extracellular (Potential). adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(6)|pancreas(4)|breast(2) 12 STAD - Stomach adenocarcinoma(35;0.0556) TGGCGATCAAGGCCCCAGTGC 0.498 NA HNSCC(23;0.051) 20 100 7.41877e-09 9.45207e-09 0.012319 1 0 NPR3 4883 broad.mit.edu 37 5 32739072 32739072 + Missense_Mutation SNP T T C TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr5:32739072T>C uc003jhv.2 + 3 1213 c.995T>C c.(994-996)TTT>TCT p.F332S NPR3_uc010iuo.2_Missense_Mutation_p.F116S|NPR3_uc011cnz.1_Missense_Mutation_p.F116S|NPR3_uc003jhu.2_Missense_Mutation_p.F332S NM_000908 NP_000899 P17342 ANPRC_HUMAN natriuretic peptide receptor C/guanylate cyclase 332 Extracellular (Potential). osteoclast proliferation|positive regulation of urine volume|regulation of blood pressure|regulation of osteoblast proliferation|skeletal system development integral to membrane hormone binding|natriuretic peptide receptor activity ovary(1)|central_nervous_system(1) 2 Nesiritide(DB04899) AAACCTGAGTTTGAGAAGTTT 0.453 NA 20 68 0 0 0.00278 0 0 HCN1 348980 broad.mit.edu 37 5 45396684 45396684 + Silent SNP G G A TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr5:45396684G>A uc003jok.2 - 4 1165 c.1140C>T c.(1138-1140)ATC>ATT p.I380I NM_021072 NP_066550 O60741 HCN1_HUMAN hyperpolarization activated cyclic 380 Helical; Name=Segment S6; (Potential). integral to membrane cAMP binding|sodium channel activity|voltage-gated potassium channel activity ovary(1) 1 TGGCCCCGACGATCATGCTCA 0.517 NA 15 63 0 0 0.007413 0 0 DHX29 54505 broad.mit.edu 37 5 54581634 54581635 + Missense_Mutation DNP CC CC AA TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 CC CC - - CC CC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr5:54581634_54581635CC>AA uc003jpx.2 - 9 1241_1242 c.1121_1122GG>TT c.(1120-1122)TGG>TTT p.W374F DHX29_uc010ivw.2_RNA NM_019030 NP_061903 Q7Z478 DHX29_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 29 374 ATP binding|ATP-dependent helicase activity|translation initiation factor activity ovary(2)|central_nervous_system(1)|skin(1) 4 Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183) ATTTTCCAGTCCAACTTCGAGC 0.347 NA 5 22 0 0 0.004672 0 0 GPR98 84059 broad.mit.edu 37 5 89979496 89979496 + Missense_Mutation SNP A A G TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr5:89979496A>G uc003kju.2 + 28 5854 c.5758A>G c.(5758-5760)ATC>GTC p.I1920V GPR98_uc003kjt.2_5'UTR NM_032119 NP_115495 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 precursor 1920 Calx-beta 13.|Extracellular (Potential). cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity ovary(11)|central_nervous_system(3)|pancreas(2) 16 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) CTCTGGCAACATCACATTTGA 0.468 NA 9 25 0 0 0.001855 0 0 ALDH7A1 501 broad.mit.edu 37 5 125885926 125885926 + Missense_Mutation SNP G G C TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr5:125885926G>C uc003ktx.2 - 15 1569 c.1377C>G c.(1375-1377)ATC>ATG p.I459M ALDH7A1_uc003ktv.2_Missense_Mutation_p.I80M|ALDH7A1_uc003kty.2_RNA|ALDH7A1_uc011cxa.1_Missense_Mutation_p.I422M NM_001182 NP_001173 P49419 AL7A1_HUMAN aldehyde dehydrogenase 7 family, member A1 459 cellular aldehyde metabolic process|lysine catabolic process|sensory perception of sound cytosol|mitochondrial matrix|nucleus aldehyde dehydrogenase (NAD) activity|betaine-aldehyde dehydrogenase activity|L-aminoadipate-semialdehyde dehydrogenase activity kidney(2)|ovary(1) 3 all_cancers(142;0.24)|Prostate(80;0.081) KIRC - Kidney renal clear cell carcinoma(527;0.0584)|Kidney(363;0.0934) Epithelial(69;0.0417)|OV - Ovarian serous cystadenocarcinoma(64;0.068)|all cancers(49;0.109) NADH(DB00157)|Pyridoxine(DB00165) CTTTGGTAAAGATGCTACTTG 0.358 NA 9 27 0 0 0.013537 0 0 FBN2 2201 broad.mit.edu 37 5 127638739 127638739 + Missense_Mutation SNP C C G TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr5:127638739C>G uc003kuu.2 - 46 6282 c.5843G>C c.(5842-5844)TGT>TCT p.C1948S NM_001999 NP_001990 P35556 FBN2_HUMAN fibrillin 2 precursor 1948 EGF-like 32; 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) GGTGTTTTTACAAGTTCCATT 0.363 NA 26 63 0 0 0.013726 0 0 DDX46 9879 broad.mit.edu 37 5 134143536 134143536 + Missense_Mutation SNP G G A TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr5:134143536G>A uc003kzw.2 + 16 2221 c.2053G>A c.(2053-2055)GTG>ATG p.V685M DDX46_uc003kzv.1_RNA NM_014829 NP_055644 Q7L014 DDX46_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 46 685 Helicase C-terminal. mRNA processing|RNA splicing Cajal body|nuclear speck ATP binding|ATP-dependent helicase activity|RNA binding ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) AGGTCTAGATGTGAAACATCT 0.428 Colon(13;391 453 4901 21675 24897) NA 11 33 0 0 0.013537 0 0 PCDHA1 56147 broad.mit.edu 37 5 140166363 140166363 + Missense_Mutation SNP G G T TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr5:140166363G>T uc003lhb.2 + 1 488 c.488G>T c.(487-489)GGT>GTT p.G163V PCDHA1_uc003lha.2_Missense_Mutation_p.G163V|PCDHA1_uc003lgz.2_Missense_Mutation_p.G163V NM_018900 NP_061723 Q9Y5I3 PCDA1_HUMAN protocadherin alpha 1 isoform 1 precursor 163 Cadherin 2.|Extracellular (Potential). homophilic cell adhesion|nervous system development extracellular region|integral to plasma membrane calcium ion binding|protein binding skin(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCAGACATTGGTGCTAACGCT 0.443 NA 22 46 9.57634e-11 1.31071e-10 0.00333 1 0 PCDHA1 56147 broad.mit.edu 37 5 140166396 140166396 + Missense_Mutation SNP C C A rs141972872 TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr5:140166396C>A uc003lhb.2 + 1 521 c.521C>A c.(520-522)CCG>CAG p.P174Q PCDHA1_uc003lha.2_Missense_Mutation_p.P174Q|PCDHA1_uc003lgz.2_Missense_Mutation_p.P174Q NM_018900 NP_061723 Q9Y5I3 PCDA1_HUMAN protocadherin alpha 1 isoform 1 precursor 174 Cadherin 2.|Extracellular (Potential). homophilic cell adhesion|nervous system development extracellular region|integral to plasma membrane calcium ion binding|protein binding skin(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ACGCTCAGCCCGAGTGATTAT 0.413 NA 16 34 1.15088e-07 1.4006e-07 0.004007 1 0 PCDHA11 56138 broad.mit.edu 37 5 140250092 140250092 + Silent SNP A A C TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr5:140250092A>C uc003lia.2 + 1 2262 c.1404A>C c.(1402-1404)CCA>CCC p.P468P PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc011dae.1_Silent_p.P468P NM_018902 NP_061725 Q9Y5I1 PCDAB_HUMAN protocadherin alpha 11 isoform 1 precursor 468 Extracellular (Potential).|Cadherin 5. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding|protein binding breast(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGAACAACCCACCAGGCTGCC 0.672 NA 51 134 0 0 0.01441 0 0 PCDHB3 56132 broad.mit.edu 37 5 140481843 140481843 + Missense_Mutation SNP G G T TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr5:140481843G>T uc003lio.2 + 1 1610 c.1610G>T c.(1609-1611)GGC>GTC p.G537V uc003lin.2_5'Flank NM_018937 NP_061760 Q9Y5E6 PCDB3_HUMAN protocadherin beta 3 precursor 537 Extracellular (Potential).|Cadherin 5. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding ovary(1)|pancreas(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) ACAGACCGTGGCTCCCCGGCT 0.677 NA 28 52 1.39806e-14 2.11553e-14 0.008361 1 0 PCDHB6 56130 broad.mit.edu 37 5 140531177 140531177 + Missense_Mutation SNP C C A TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr5:140531177C>A uc003lir.2 + 1 1339 c.1339C>A c.(1339-1341)CCC>ACC p.P447T PCDHB6_uc011dah.1_Missense_Mutation_p.P311T NM_018939 NP_061762 Q9Y5E3 PCDB6_HUMAN protocadherin beta 6 precursor 447 Cadherin 4.|Extracellular (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding skin(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TGACAACGTCCCCGCCTTCAC 0.572 NA 37 109 2.61675e-31 4.59267e-31 0.013114 1 0 PCDHB14 56122 broad.mit.edu 37 5 140603627 140603627 + Missense_Mutation SNP G G A TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr5:140603627G>A uc003ljb.2 + 1 550 c.550G>A c.(550-552)GAC>AAC p.D184N PCDHB14_uc011dal.1_Missense_Mutation_p.D31N NM_018934 NP_061757 Q9Y5E9 PCDBE_HUMAN protocadherin beta 14 precursor 184 Cadherin 2.|Extracellular (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TAAAATTCCCGACAGTAGTGA 0.418 Ovarian(141;50 1831 27899 33809 37648) NA 23 43 0 0 0.00333 0 0 TCERG1 10915 broad.mit.edu 37 5 145843189 145843190 + Missense_Mutation DNP CT CT TG TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 CT CT - - CT CT Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr5:145843189_145843190CT>TG uc003lob.2 + 5 1008_1009 c.968_969CT>TG c.(967-969)GCT>GTG p.A323V TCERG1_uc003loc.2_Missense_Mutation_p.A323V|TCERG1_uc011dbt.1_Missense_Mutation_p.A323V NM_006706 NP_006697 O14776 TCRG1_HUMAN transcription elongation regulator 1 isoform 1 323 Thr-rich. regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nucleus protein binding|transcription coactivator activity ovary(1)|skin(1) 2 Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) TCAACTCCTGCTCCTACAGCCA 0.49 NA 10 134 0 0 0.004672 0 0 TCERG1 10915 broad.mit.edu 37 5 145843192 145843192 + Missense_Mutation SNP C C T TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr5:145843192C>T uc003lob.2 + 5 1011 c.971C>T c.(970-972)CCT>CTT p.P324L TCERG1_uc003loc.2_Missense_Mutation_p.P324L|TCERG1_uc011dbt.1_Missense_Mutation_p.P324L NM_006706 NP_006697 O14776 TCRG1_HUMAN transcription elongation regulator 1 isoform 1 324 Thr-rich. P -> R (in Ref. 1; AAB80727). regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nucleus protein binding|transcription coactivator activity ovary(1)|skin(1) 2 Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) ACTCCTGCTCCTACAGCCACA 0.493 NA 10 133 0 0 0.011902 0 0 SH3TC2 79628 broad.mit.edu 37 5 148388422 148388422 + Missense_Mutation SNP G G C TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr5:148388422G>C uc003lpu.2 - 15 3622 c.3470C>G c.(3469-3471)ACA>AGA p.T1157R SH3TC2_uc003lpp.1_RNA|SH3TC2_uc010jgw.2_Missense_Mutation_p.T801R|SH3TC2_uc003lps.2_RNA|SH3TC2_uc003lpt.2_Missense_Mutation_p.T704R|SH3TC2_uc010jgx.2_Missense_Mutation_p.T1150R NM_024577 NP_078853 Q8TF17 S3TC2_HUMAN SH3 domain and tetratricopeptide repeats 2 1157 binding ovary(2) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ACCTGTGACTGTGCTGAGCCT 0.423 NA 32 93 0 0 0.00623 0 0 AFAP1L1 134265 broad.mit.edu 37 5 148691761 148691761 + Silent SNP G G A TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr5:148691761G>A uc003lqh.2 + 9 1145 c.1014G>A c.(1012-1014)CTG>CTA p.L338L AFAP1L1_uc003lqg.3_Silent_p.L338L|AFAP1L1_uc010jgy.2_Silent_p.L338L NM_152406 NP_689619 Q8TED9 AF1L1_HUMAN actin filament associated protein 1-like 1 338 protein binding breast(1)|pancreas(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGTTGGACCTGGACAAGGTAT 0.587 NA 8 94 0 0 0.006214 0 0 TNIP1 10318 broad.mit.edu 37 5 150429495 150429495 + Missense_Mutation SNP C C G TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr5:150429495C>G uc003ltf.2 - 8 1325 c.736G>C c.(736-738)GAG>CAG p.E246Q TNIP1_uc010jhl.2_RNA|TNIP1_uc010jhm.2_Missense_Mutation_p.E246Q|TNIP1_uc010jhn.2_Missense_Mutation_p.E246Q|TNIP1_uc011dco.1_Missense_Mutation_p.E246Q|TNIP1_uc003lth.2_RNA|TNIP1_uc003lti.2_Missense_Mutation_p.E246Q|TNIP1_uc003ltg.2_Missense_Mutation_p.E193Q|TNIP1_uc003ltj.2_Missense_Mutation_p.E246Q|TNIP1_uc010jho.1_RNA|TNIP1_uc010jhq.1_Missense_Mutation_p.E193Q|TNIP1_uc010jhp.1_Missense_Mutation_p.E193Q|TNIP1_uc010jhr.1_Missense_Mutation_p.E246Q|TNIP1_uc003ltk.2_Missense_Mutation_p.E246Q NM_006058 NP_006049 Q15025 TNIP1_HUMAN TNFAIP3 interacting protein 1 246 Potential.|Interacts with Nef. defense response|glycoprotein biosynthetic process|negative regulation of viral genome replication|translation cytoplasm|nucleus protein binding ovary(1)|central_nervous_system(1) 2 Medulloblastoma(196;0.0911)|all_hematologic(541;0.207) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) TTCTTGAGCTCCAAATTTTCC 0.512 NA 5 310 0 0 0.001168 0 0 FAM71B 153745 broad.mit.edu 37 5 156590064 156590064 + Missense_Mutation SNP G G C rs150872087 TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr5:156590064G>C uc003lwn.2 - 2 1312 c.1212C>G c.(1210-1212)AGC>AGG p.S404R NM_130899 NP_570969 Q8TC56 FA71B_HUMAN family with sequence similarity 71, member B 404 nucleus ovary(4)|pancreas(1)|skin(1) 6 Renal(175;0.00212) Medulloblastoma(196;0.0523)|all_neural(177;0.21) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) TGTAGCCTTCGCTTTGCAAGG 0.507 NA 7 42 0 0 0.001984 0 0 EBF1 1879 broad.mit.edu 37 5 158523361 158523361 + Silent SNP G G C TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr5:158523361G>C uc010jip.2 - 3 647 c.345C>G c.(343-345)CTC>CTG p.L115L EBF1_uc011ddw.1_5'UTR|EBF1_uc011ddx.1_Silent_p.L115L|EBF1_uc003lxl.3_Silent_p.L115L NM_024007 NP_076870 Q9UH73 COE1_HUMAN early B-cell factor 115 multicellular organismal development nucleus DNA binding|metal ion binding HMGA2/EBF1(2) soft_tissue(2)|ovary(1)|central_nervous_system(1)|pancreas(1) 5 Renal(175;0.00196) Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) CATTGCTGTAGAGAAGCTGAA 0.592 NA T HMGA2 lipoma 3 22 0 0 0.001168 0 0 DOCK2 1794 broad.mit.edu 37 5 169468121 169468121 + Missense_Mutation SNP C C A TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr5:169468121C>A uc003maf.2 + 37 3808 c.3728C>A c.(3727-3729)ACG>AAG p.T1243K DOCK2_uc011der.1_RNA|DOCK2_uc010jjm.2_Missense_Mutation_p.T735K NM_004946 NP_004937 Q92608 DOCK2_HUMAN dedicator of cytokinesis 2 1243 DHR-2.|Interaction with CRKL. actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction cytoskeleton|cytosol|endomembrane system|membrane electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding ovary(5)|pancreas(2) 7 Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) GCTGCCTACACGCTCCTTCTC 0.502 NA 12 42 0.000151284 0.000166801 0.001855 1 0 ADAMTS2 9509 broad.mit.edu 37 5 178699960 178699960 + Silent SNP G G T rs144732073 TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr5:178699960G>T uc003mjw.2 - 3 640 c.640C>A c.(640-642)CGG>AGG p.R214R ADAMTS2_uc011dgm.1_Silent_p.R214R NM_014244 NP_055059 O95450 ATS2_HUMAN ADAM metallopeptidase with thrombospondin type 1 214 collagen catabolic process proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding large_intestine(1)|lung(1)|ovary(1)|pancreas(1) 4 all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326) all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GBM - Glioblastoma multiforme(465;0.0473) GTGGGTGGCCGGCGATACACC 0.662 NA 21 52 4.54149e-19 7.46308e-19 0.014323 1 0 C6orf195 154386 broad.mit.edu 37 6 2623839 2623839 + Missense_Mutation SNP G G T TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr6:2623839G>T uc003mtw.2 - 3 1203 c.218C>A c.(217-219)CCT>CAT p.P73H NM_152554 NP_689767 Q96MT4 CF195_HUMAN hypothetical protein LOC154386 73 0 Ovarian(93;0.0412) all_hematologic(90;0.0895) AGATGGGGCAGGAACTGAGGG 0.622 NA 14 75 1.52009e-12 2.21573e-12 0.003163 1 0 RBM24 221662 broad.mit.edu 37 6 17292285 17292285 + Missense_Mutation SNP G G T TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr6:17292285G>T uc003nbz.3 + 4 650 c.646G>T c.(646-648)GCT>TCT p.A216S RBM24_uc003nby.3_3'UTR|RBM24_uc011dix.1_Missense_Mutation_p.A158S|RBM24_uc003nca.2_Missense_Mutation_p.A171S|RBM24_uc011diy.1_Missense_Mutation_p.Q129H|RBM24_uc011diz.1_Missense_Mutation_p.Q114H NM_001143942 NP_001137414 Q9BX46 RBM24_HUMAN RNA binding motif protein 24 isoform 1 216 Ala-rich. cell differentiation|regulation of mRNA stability|regulation of myotube differentiation cytoplasm|nucleus mRNA 3'-UTR binding|nucleotide binding ovary(1)|skin(1) 2 Breast(50;0.0615)|Ovarian(93;0.0733) all_hematologic(90;0.062) all cancers(50;0.131)|Epithelial(50;0.15) cgctgcagcagctgctgccgc 0.433 NA 14 32 1.52009e-12 2.21573e-12 0.003163 1 0 SLC17A1 6568 broad.mit.edu 37 6 25826688 25826688 + Splice_Site SNP C C A TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr6:25826688C>A uc003nfh.3 - 3 323 c.207_splice c.e3+1 p.K69_splice SLC17A1_uc011djy.1_Splice_Site|SLC17A1_uc010jqb.1_Splice_Site_p.K67_splice|SLC17A1_uc010jqc.1_Splice_Site_p.K67_splice NM_005074 NP_005065 Q14916 NPT1_HUMAN solute carrier family 17 (sodium phosphate), sodium ion transport|urate metabolic process integral to plasma membrane|membrane fraction sodium-dependent phosphate transmembrane transporter activity|symporter activity ovary(3)|pancreas(1) 4 TATTGATGTACCTTTATATTA 0.388 NA 14 128 4.36969e-10 5.78144e-10 0.001855 1 0 BTN3A1 11119 broad.mit.edu 37 6 26408110 26408110 + Silent SNP G G T TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr6:26408110G>T uc003nhv.2 + 4 1013 c.645G>T c.(643-645)GGG>GGT p.G215G BTN3A1_uc011dkj.1_Silent_p.G215G|BTN3A1_uc011dkk.1_Silent_p.G163G|BTN3A1_uc010jqj.2_Silent_p.G215G NM_007048 NP_008979 O00481 BT3A1_HUMAN butyrophilin, subfamily 3, member A1 isoform a 215 Ig-like V-type 2.|Extracellular (Potential). lipid metabolic process integral to membrane upper_aerodigestive_tract(1)|ovary(1) 2 GCAGCTCTGGGGAGGGTGTAT 0.552 NA 49 152 7.34454e-26 1.27602e-25 0.01441 1 0 TRIM27 5987 broad.mit.edu 37 6 28887798 28887798 + Missense_Mutation SNP C C A TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr6:28887798C>A uc003nlr.2 - 3 1097 c.738G>T c.(736-738)GAG>GAT p.E246D TRIM27_uc003nls.2_Missense_Mutation_p.E246D|TRIM27_uc003nlt.1_Missense_Mutation_p.E246D NM_006510 NP_006501 P14373 TRI27_HUMAN ret finger protein 246 cell proliferation|negative regulation of gene expression, epigenetic|negative regulation of transcription from RNA polymerase II promoter|protein trimerization|spermatogenesis|transcription, DNA-dependent cytoplasm|integral to plasma membrane|membrane fraction|nuclear membrane|PML body DNA binding|protein binding|transmembrane receptor protein tyrosine kinase activity|zinc ion binding ovary(1) 1 CCTGCAGGAGCTCCCTGGTGG 0.547 NA T RET papillary thyroid 21 70 1.28384e-07 1.55873e-07 0.012319 1 0 DDR1 780 broad.mit.edu 37 6 30866676 30866676 + Silent SNP G G T TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr6:30866676G>T uc003nrr.2 + 18 2722 c.2463G>T c.(2461-2463)ACG>ACT p.T821T DDR1_uc010jse.2_Silent_p.T784T|DDR1_uc003nrq.2_Silent_p.T784T|DDR1_uc003nrs.2_Silent_p.T821T|DDR1_uc003nrt.2_Silent_p.T784T|DDR1_uc011dms.1_Silent_p.T802T|DDR1_uc003nru.2_Silent_p.T784T|DDR1_uc003nrv.2_Silent_p.T827T|DDR1_uc003nrz.1_Silent_p.T146T NM_013993 NP_054699 Q08345 DDR1_HUMAN discoidin domain receptor family, member 1 821 Cytoplasmic (Potential).|Protein kinase. cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway extracellular region|integral to plasma membrane ATP binding|protein binding|protein binding|transmembrane receptor protein tyrosine kinase activity lung(4)|central_nervous_system(3)|large_intestine(1)|ovary(1) 9 Imatinib(DB00619) GGAAGTTCACGACTGCGAGTG 0.592 NA 79 121 9.54843e-35 1.69896e-34 0.01441 1 0 TNXB 7148 broad.mit.edu 37 6 31977552 31977552 + Silent SNP C C G rs77471377 TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr6:31977552C>G uc011dpc.1 - 12 2352 c.1443G>C c.(1441-1443)CGG>CGC p.R481R NM_032470 NP_115859 P22105 TENX_HUMAN tenascin XB isoform 2 4097 Fibrinogen C-terminal. actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding 0 GGGGCCGCTCCCGGTTGCCGT 0.667 NA 3 30 0 0 0.009096 0 0 TTBK1 84630 broad.mit.edu 37 6 43222290 43222290 + Missense_Mutation SNP C C G TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr6:43222290C>G uc003ouq.1 + 6 756 c.477C>G c.(475-477)AAC>AAG p.N159K NM_032538 NP_115927 Q5TCY1 TTBK1_HUMAN tau tubulin kinase 1 159 Protein kinase. cell junction|cytoplasm|nucleus ATP binding|protein binding|protein serine/threonine kinase activity lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 9 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399) CCCAGTCAAACTTTGCCATGG 0.642 NA 28 88 0 0 0.008361 0 0 AARS2 57505 broad.mit.edu 37 6 44280862 44280862 + Missense_Mutation SNP G G A TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr6:44280862G>A uc010jza.1 - 1 202 c.199C>T c.(199-201)CGC>TGC p.R67C SPATS1_uc003oxg.2_Intron NM_020745 NP_065796 Q5JTZ9 SYAM_HUMAN alanyl-tRNA synthetase 2, mitochondrial 67 alanyl-tRNA aminoacylation mitochondrion alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding ovary(1) 1 Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) L-Alanine(DB00160) GGGTCGCCGCGGGGCCGCACG 0.632 NA OREG0017474 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 9 14 0 0 0.004482 0 0 TDRD6 221400 broad.mit.edu 37 6 46657549 46657549 + Missense_Mutation SNP G G T TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr6:46657549G>T uc003oyj.2 + 1 1684 c.1684G>T c.(1684-1686)GAC>TAC p.D562Y TDRD6_uc010jze.2_Missense_Mutation_p.D556Y NM_001010870 NP_001010870 O60522 TDRD6_HUMAN tudor domain containing 6 562 Tudor 3. cell differentiation|multicellular organismal development|spermatogenesis chromatoid body nucleic acid binding breast(3)|ovary(2)|skin(1) 6 Lung(136;0.192) CAAATTGGATGACAAGAGTGT 0.428 NA 32 121 1.07637e-12 1.58235e-12 0.004878 1 0 FAM83B 222584 broad.mit.edu 37 6 54805297 54805297 + Missense_Mutation SNP G G C TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr6:54805297G>C uc003pck.2 + 5 1644 c.1528G>C c.(1528-1530)GAC>CAC p.D510H NM_001010872 NP_001010872 Q5T0W9 FA83B_HUMAN hypothetical protein LOC222584 510 ovary(6) 6 Lung NSC(77;0.0178)|Renal(3;0.122) AGCTACACCGGACTCAAATGG 0.423 NA 16 66 0 0 0.004007 0 0 DST 667 broad.mit.edu 37 6 56819243 56819243 + Missense_Mutation SNP G G T TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr6:56819243G>T uc003pdf.2 - 1 171 c.143C>A c.(142-144)CCG>CAG p.P48Q BEND6_uc010kab.2_5'Flank|BEND6_uc003pdg.2_5'Flank NM_001144769 NP_001138241 Q03001 DYST_HUMAN dystonin isoform 2 Error:Variant_position_missing_in_Q03001_after_alignment cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1) 14 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) CGATTTCATCGGATGCCTCCC 0.557 NA 13 21 6.31663e-08 7.83505e-08 0.003163 1 0 EYS 346007 broad.mit.edu 37 6 66115233 66115234 + Missense_Mutation DNP GG GG TT TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 GG GG - - GG GG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr6:66115233_66115234GG>TT uc011dxu.1 - 6 1427_1428 c.889_890CC>AA c.(889-891)CCT>AAT p.P297N EYS_uc003peq.2_Missense_Mutation_p.P297N|EYS_uc003per.1_Missense_Mutation_p.P297N NM_001142800 NP_001136272 Q5T1H1 EYS_HUMAN eyes shut homolog isoform 1 297 response to stimulus|visual perception extracellular region calcium ion binding lung(4)|ovary(1)|skin(1) 6 AGAAACACAAGGTTTTGCTGAC 0.366 NA 30 46 0 0 0.004672 0 0 MDN1 23195 broad.mit.edu 37 6 90365644 90365644 + Missense_Mutation SNP A A T TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr6:90365644A>T uc003pnn.1 - 92 15445 c.15329T>A c.(15328-15330)ATG>AAG p.M5110K NM_014611 NP_055426 Q9NU22 MDN1_HUMAN MDN1, midasin homolog 5110 protein complex assembly|regulation of protein complex assembly nucleus ATP binding|ATPase activity|unfolded protein binding ovary(8)|skin(2) 10 all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246) BRCA - Breast invasive adenocarcinoma(108;0.0193) GTGATCACCCATGGAACGTTC 0.433 NA 16 19 0 0 0.008871 0 0 GJA10 84694 broad.mit.edu 37 6 90604546 90604546 + Missense_Mutation SNP A A G TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr6:90604546A>G uc011eaa.1 + 1 359 c.359A>G c.(358-360)AAT>AGT p.N120S NM_032602 NP_115991 Q969M2 CXA10_HUMAN gap junction protein, alpha 10 120 Cytoplasmic (Potential). synaptic transmission connexon complex|integral to membrane gap junction channel activity 0 all_cancers(76;5.71e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527) BRCA - Breast invasive adenocarcinoma(108;0.0915) CAGATGGAGAATCCAGATCTT 0.473 NA 7 16 0 0 0.001984 0 0 MARCKS 4082 broad.mit.edu 37 6 114181669 114181669 + Missense_Mutation SNP G G A TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr6:114181669G>A uc003pvy.3 + 2 1308 c.913G>A c.(913-915)GCA>ACA p.A305T NM_002356 NP_002347 P29966 MARCS_HUMAN myristoylated alanine-rich protein kinase C 305 PGAPPEQEAAPAEEPAAAAASS -> LVCPRRGGSPRGGAR GRRSLNQ (in Ref. 1; AAA59555). energy reserve metabolic process|regulation of insulin secretion actin cytoskeleton|plasma membrane actin filament binding|calmodulin binding 0 all_cancers(87;7.65e-05)|all_epithelial(87;0.000296)|all_hematologic(75;0.0172)|Colorectal(196;0.0317)|all_lung(197;0.198) Epithelial(106;1.59e-07)|all cancers(137;9.85e-07)|OV - Ovarian serous cystadenocarcinoma(136;0.000322) CGCGGCCGCCGCAGCCTCGTC 0.493 NA 3 21 0 0 0.004672 0 0 C6orf170 221322 broad.mit.edu 37 6 121615715 121615715 + Splice_Site SNP C C A TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr6:121615715C>A uc003pyo.1 - 11 1299 c.1231_splice c.e11+1 p.R411_splice C6orf170_uc003pyq.1_Splice_Site|C6orf170_uc003pyp.1_5'Flank NM_152730 NP_689943 Q96NH3 BROMI_HUMAN hypothetical protein LOC221322 multicellular organismal development cilium|cytoplasm Rab GTPase activator activity central_nervous_system(2)|ovary(1) 3 GBM - Glioblastoma multiforme(226;0.00521) ATAATACTTACTGCAATGCTT 0.294 NA 25 30 3.65163e-15 5.60786e-15 0.00632 1 0 TIAM2 26230 broad.mit.edu 37 6 155450943 155450943 + Missense_Mutation SNP C C A TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr6:155450943C>A uc003qqb.2 + 6 1859 c.586C>A c.(586-588)CAG>AAG p.Q196K TIAM2_uc003qqe.2_Missense_Mutation_p.Q196K NM_012454 NP_036586 Q8IVF5 TIAM2_HUMAN T-cell lymphoma invasion and metastasis 2 196 apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|filopodium|growth cone|lamellipodium receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity ovary(3)|breast(1) 4 Ovarian(120;0.196) OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053) TGAGCCGGTGCAGCTGCTGAG 0.607 NA 11 24 2.61681e-11 3.6494e-11 0.00245 1 0 AHR 196 broad.mit.edu 37 7 17349710 17349710 + Silent SNP C C T TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr7:17349710C>T uc011jxz.1 + 2 829 c.216C>T c.(214-216)CTC>CTT p.L72L AHR_uc003stt.3_RNA NM_001621 NP_001612 P35869 AHR_HUMAN aryl hydrocarbon receptor precursor 72 Helix-loop-helix motif. apoptosis|blood vessel development|cell cycle|regulation of B cell proliferation|response to stress|transcription from RNA polymerase II promoter|xenobiotic metabolic process cytosolic aryl hydrocarbon receptor complex|transcription factor complex Hsp90 protein binding|ligand-dependent nuclear receptor activity|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding urinary_tract(1)|kidney(1)|pancreas(1) 3 Lung NSC(10;0.0392)|all_lung(11;0.0754) TTCTTAGGCTCAGCGTCAGTT 0.393 NA 7 21 0 0 0.006214 0 0 DNAH11 8701 broad.mit.edu 37 7 21788231 21788231 + Missense_Mutation SNP G G C TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr7:21788231G>C uc003svc.2 + 53 8596 c.8565G>C c.(8563-8565)CAG>CAC p.Q2855H NM_003777 NP_003768 Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 2855 AAA 4 (By similarity). microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1) 15 GAACCCCTCAGGGCTGTGCTC 0.542 NA Kartagener_syndrome 4 19 0 0 0.009096 0 0 GPNMB 10457 broad.mit.edu 37 7 23300116 23300116 + Silent SNP C C A TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr7:23300116C>A uc003swc.2 + 6 903 c.742C>A c.(742-744)CGA>AGA p.R248R GPNMB_uc003swb.2_Silent_p.R248R|GPNMB_uc011jyy.1_Silent_p.R190R|GPNMB_uc011jyz.1_Silent_p.R149R NM_001005340 NP_001005340 Q14956 GPNMB_HUMAN glycoprotein (transmembrane) nmb isoform a 248 PKD.|Extracellular (Potential). negative regulation of cell proliferation melanosome ovary(3)|breast(2) 5 GBM - Glioblastoma multiforme(13;0.154) GAAGAACGATCGAAATTCATC 0.383 NA 19 50 1.10513e-12 1.62002e-12 0.014323 1 0 GLI3 2737 broad.mit.edu 37 7 42005519 42005519 + Missense_Mutation SNP C C A TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr7:42005519C>A uc011kbh.1 - 15 3243 c.3152G>T c.(3151-3153)CGG>CTG p.R1051L GLI3_uc011kbg.1_Missense_Mutation_p.R992L NM_000168 NP_000159 P10071 GLI3_HUMAN GLI-Kruppel family member GLI3 1051 negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis cilium|cytosol|nucleolus beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding lung(11)|ovary(3)|large_intestine(2)|central_nervous_system(1)|kidney(1)|pancreas(1) 19 GCCCTCGGGCCGCGTGTAATT 0.662 NA Greig_Cephalopolysyndactyly|Pallister-Hall_syndrome 19 43 6.21321e-17 9.92575e-17 0.00278 1 0 TNS3 64759 broad.mit.edu 37 7 47384421 47384421 + Missense_Mutation SNP C C A TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr7:47384421C>A uc003tnv.2 - 20 2949 c.2582G>T c.(2581-2583)CGC>CTC p.R861L TNS3_uc003tnw.2_Missense_Mutation_p.R861L NM_022748 NP_073585 Q68CZ2 TENS3_HUMAN tensin 3 861 focal adhesion protein binding ovary(4) 4 CGGAGGATGGCGCAGCGCTGT 0.582 NA 20 37 3.8784e-16 6.10139e-16 0.012319 1 0 ZNF680 340252 broad.mit.edu 37 7 63982213 63982213 + Missense_Mutation SNP C C A TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr7:63982213C>A uc003tta.2 - 4 1092 c.919G>T c.(919-921)GCA>TCA p.A307S ZNF680_uc010kzr.2_Missense_Mutation_p.A234S NM_178558 NP_848653 Q8NEM1 ZN680_HUMAN zinc finger protein 680 isoform 1 307 C2H2-type 5. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Lung NSC(55;0.118)|all_lung(88;0.243) GTAAGGGTTGCAAACCAGTTA 0.343 NA 3 17 0.000602214 0.000650089 0.000602 1 0 HGF 3082 broad.mit.edu 37 7 81388018 81388018 + Silent SNP A A G TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr7:81388018A>G uc003uhl.2 - 3 522 c.357T>C c.(355-357)TAT>TAC p.Y119Y HGF_uc003uhm.2_Silent_p.Y119Y|HGF_uc003uhn.1_Silent_p.Y119Y|HGF_uc003uho.1_Silent_p.Y119Y|HGF_uc003uhp.2_Silent_p.Y119Y NM_000601 NP_000592 P14210 HGF_HUMAN hepatocyte growth factor isoform 1 119 PAN. epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling platelet alpha granule lumen growth factor activity|serine-type endopeptidase activity ovary(2)|central_nervous_system(2) 4 CTTTGTTTTCATAGAGGTCAA 0.343 NA 15 27 0 0 0.003163 0 0 KRIT1 889 broad.mit.edu 37 7 91842527 91842527 + Silent SNP G G A TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr7:91842527G>A uc003ulq.1 - 15 2178 c.2007C>T c.(2005-2007)CTC>CTT p.L669L KRIT1_uc010lev.1_Silent_p.L426L|KRIT1_uc003ulr.1_Silent_p.L669L|KRIT1_uc003uls.1_Silent_p.L669L|KRIT1_uc003ult.1_Silent_p.L621L|KRIT1_uc003ulu.1_Silent_p.L669L|KRIT1_uc003ulv.1_Silent_p.L669L NM_194456 NP_919438 O00522 KRIT1_HUMAN krev interaction trapped 1 isoform 1 669 Required for RAP1A binding.|FERM. angiogenesis|cell redox homeostasis|negative regulation of angiogenesis|negative regulation of endothelial cell apoptosis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|regulation of establishment of cell polarity|small GTPase mediated signal transduction cell-cell junction|cytoskeleton protein binding|small GTPase regulator activity ovary(2)|lung(1) 3 all_cancers(62;1.04e-09)|all_epithelial(64;5.75e-09)|Breast(17;0.00206)|all_lung(186;0.0509)|Lung NSC(181;0.0692) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) CCATGTTGAGGAGATGAAGTC 0.353 NA Familial_Cerebral_Cavernous_Angioma 13 34 0 0 0.00245 0 0 TECPR1 25851 broad.mit.edu 37 7 97875324 97875324 + Missense_Mutation SNP G G C TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr7:97875324G>C uc003upg.2 - 3 340 c.135C>G c.(133-135)TGC>TGG p.C45W TECPR1_uc003uph.1_Intron NM_015395 NP_056210 Q7Z6L1 TCPR1_HUMAN tectonin beta-propeller repeat containing 1 45 integral to membrane protein binding pancreas(1) 1 CAATGCCCCAGCAGCACTGCG 0.602 NA 3 13 0 0 0.004672 0 0 MUC17 140453 broad.mit.edu 37 7 100683730 100683730 + Silent SNP T T C TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr7:100683730T>C uc003uxp.1 + 3 9086 c.9033T>C c.(9031-9033)CCT>CCC p.P3011P MUC17_uc010lho.1_RNA NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN mucin 17 precursor 3011 Extracellular (Potential).|Ser-rich.|48.|59 X approximate tandem repeats. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity ovary(14)|skin(8)|breast(3)|lung(2) 27 Lung NSC(181;0.136)|all_lung(186;0.182) CAAGAACTCCTGCTGACACCA 0.502 NA 155 308 0 0 0.01441 0 0 GRM8 2918 broad.mit.edu 37 7 126173481 126173481 + Missense_Mutation SNP C C A TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr7:126173481C>A uc003vlr.2 - 8 2266 c.1955G>T c.(1954-1956)CGG>CTG p.R652L GRM8_uc003vls.2_RNA|GRM8_uc011kof.1_RNA|GRM8_uc003vlt.2_Missense_Mutation_p.R652L|GRM8_uc010lkz.1_RNA NM_000845 NP_000836 O00222 GRM8_HUMAN glutamate receptor, metabotropic 8 isoform a 652 Helical; Name=3; (Potential). negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception integral to plasma membrane lung(15)|ovary(5)|pancreas(1)|breast(1)|skin(1) 23 Prostate(267;0.186) L-Glutamic Acid(DB00142) TAGGAAGACCCGTCGGAAGGA 0.448 NA HNSCC(24;0.065) 16 41 2.48551e-13 3.69602e-13 0.00499 1 0 TRPV5 56302 broad.mit.edu 37 7 142612158 142612158 + Missense_Mutation SNP C C A TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr7:142612158C>A uc003wby.1 - 11 1609 c.1345G>T c.(1345-1347)GGG>TGG p.G449W NM_019841 NP_062815 Q9NQA5 TRPV5_HUMAN transient receptor potential cation channel, 449 Helical; (Potential). protein tetramerization apical plasma membrane|integral to plasma membrane calcium channel activity ovary(3)|central_nervous_system(2)|skin(1) 6 Melanoma(164;0.059) ACCACCTCCCCATTGGTGTTG 0.562 NA 13 40 4.14922e-12 5.98044e-12 0.004007 1 0 OR2F2 135948 broad.mit.edu 37 7 143632559 143632559 + Silent SNP C C A TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr7:143632559C>A uc011ktv.1 + 1 234 c.234C>A c.(232-234)GTC>GTA p.V78V NM_001004685 NP_001004685 O95006 OR2F2_HUMAN olfactory receptor, family 2, subfamily F, 78 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(3)|skin(1) 4 Melanoma(164;0.0903) CAAGCGTAGTCCCCCAGCTGC 0.512 NA 65 174 3.86735e-44 6.97745e-44 0.01441 1 0 MLL3 58508 broad.mit.edu 37 7 151962165 151962165 + Missense_Mutation SNP G G T TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr7:151962165G>T uc003wla.2 - 8 1361 c.1142C>A c.(1141-1143)GCA>GAA p.A381E NM_170606 NP_733751 Q8NEZ4 MLL3_HUMAN myeloid/lymphoid or mixed-lineage leukemia 3 381 PHD-type 1.|RING-type. intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent DNA binding|protein binding|zinc ion binding large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1) 63 all_neural(206;0.187) all_hematologic(28;0.0592)|Prostate(32;0.0906) OV - Ovarian serous cystadenocarcinoma(82;0.00715) UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462) TTGCCAACCTGCACGTTTTAA 0.438 Colon(68;14 1149 1884 27689 34759) NA N medulloblastoma 16 415 7.41877e-09 9.45207e-09 0.012319 1 0 CSMD1 64478 broad.mit.edu 37 8 2832025 2832025 + Silent SNP C C G TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr8:2832025C>G uc011kwk.1 - 56 9081 c.8691G>C c.(8689-8691)ACG>ACC p.T2897T CSMD1_uc011kwj.1_Silent_p.T2226T|CSMD1_uc010lrg.2_Silent_p.T907T NM_033225 NP_150094 Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 precursor 2897 Sushi 21.|Extracellular (Potential). integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) GGCACACTCTCGTGTCGTTGC 0.572 NA 9 9 0 0 0.006214 0 0 MCM4 4173 broad.mit.edu 37 8 48882525 48882525 + Missense_Mutation SNP T T G TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr8:48882525T>G uc003xqk.1 + 11 1437 c.1342T>G c.(1342-1344)TTG>GTG p.L448V MCM4_uc003xql.1_Missense_Mutation_p.L448V|MCM4_uc011ldi.1_Missense_Mutation_p.L435V NM_182746 NP_877423 P33991 MCM4_HUMAN minichromosome maintenance complex component 4 448 cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle MCM complex ATP binding|DNA binding|helicase activity|protein binding ovary(2)|skin(2) 4 all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354) ACGTGTGGAATTGCTTAAGGA 0.403 NA 14 51 0 0 0.00499 0 0 SNTG1 54212 broad.mit.edu 37 8 51351120 51351120 + Silent SNP C C T TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr8:51351120C>T uc010lxy.1 + 6 551 c.180C>T c.(178-180)ATC>ATT p.I60I SNTG1_uc003xqs.1_Silent_p.I60I|SNTG1_uc010lxz.1_Silent_p.I60I|SNTG1_uc011ldl.1_RNA NM_018967 NP_061840 Q9NSN8 SNTG1_HUMAN syntrophin, gamma 1 60 PDZ. cell communication cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex actin binding|protein C-terminus binding ovary(5) 5 all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22) CGGTGACCATCAGAAGACAAA 0.378 NA 8 13 0 0 0.006214 0 0 PENK 5179 broad.mit.edu 37 8 57354112 57354112 + Missense_Mutation SNP C C T TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr8:57354112C>T uc003xsz.2 - 2 604 c.523G>A c.(523-525)GGC>AGC p.G175S PENK_uc003xta.3_Missense_Mutation_p.G175S NM_006211 NP_006202 P01210 PENK_HUMAN proenkephalin 175 neuropeptide signaling pathway extracellular region neuropeptide hormone activity|opioid peptide activity ovary(2)|central_nervous_system(1)|skin(1) 4 all_lung(136;0.229) Epithelial(17;0.000873)|all cancers(17;0.0069) TTATCACTGCCATCCTGGTGG 0.522 NA 71 71 0 0 0.01441 0 0 TTPA 7274 broad.mit.edu 37 8 63985591 63985591 + Silent SNP T T C TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr8:63985591T>C uc003xux.1 - 2 293 c.261A>G c.(259-261)CTA>CTG p.L87L NM_000370 NP_000361 P49638 TTPA_HUMAN tocopherol (alpha) transfer protein 87 lipid metabolic process transporter activity|vitamin E binding 0 Breast(64;0.0716) all_cancers(86;0.145)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.123) Vitamin E(DB00163) TTCTAGGGTGTAGATCTGCAC 0.383 NA 9 28 0 0 0.006214 0 0 EYA1 2138 broad.mit.edu 37 8 72211423 72211423 + Missense_Mutation SNP A A T TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr8:72211423A>T uc003xys.3 - 8 972 c.685T>A c.(685-687)TAT>AAT p.Y229N EYA1_uc003xyr.3_Missense_Mutation_p.Y224N|EYA1_uc003xyt.3_Missense_Mutation_p.Y196N|EYA1_uc010lzf.2_Missense_Mutation_p.Y156N|EYA1_uc003xyu.2_Missense_Mutation_p.Y229N|EYA1_uc011lfe.1_Missense_Mutation_p.Y223N|EYA1_uc003xyv.2_Missense_Mutation_p.Y107N NM_172058 NP_742055 Q99502 EYA1_HUMAN eyes absent 1 isoform b 229 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) CTGTTATAATACTGTGCGTAC 0.468 NA 36 109 0 0 0.011902 0 0 REXO1L1 254958 broad.mit.edu 37 8 86573734 86573734 + Missense_Mutation SNP G G A TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr8:86573734G>A uc011lfw.1 - 1 1535 c.1489C>T c.(1489-1491)CGG>TGG p.R497W NM_172239 NP_758439 Q8IX06 GOR_HUMAN exonuclease GOR 665 cytoplasm|nucleus exonuclease activity|nucleic acid binding 0 GAGGCGGACCGGTGGCGTGGC 0.687 NA 5 72 0 0 0.001984 0 0 CDH17 1015 broad.mit.edu 37 8 95164334 95164334 + Missense_Mutation SNP C C G TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr8:95164334C>G uc003ygh.2 - 13 1683 c.1558G>C c.(1558-1560)GAT>CAT p.D520H CDH17_uc011lgo.1_Missense_Mutation_p.D306H|CDH17_uc011lgp.1_Missense_Mutation_p.D520H NM_004063 NP_004054 Q12864 CAD17_HUMAN cadherin 17 precursor 520 Extracellular (Potential).|Cadherin 5. integral to membrane calcium ion binding ovary(5)|skin(1) 6 Breast(36;4.65e-06) BRCA - Breast invasive adenocarcinoma(8;0.00691) GTTTCAAAATCAAGAGGCTGT 0.363 NA 3 48 0 0 0.004672 0 0 YWHAZ 7534 broad.mit.edu 37 8 101936182 101936182 + Splice_Site SNP C C A TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr8:101936182C>A uc011lhe.1 - 5 855 c.678_splice c.e5+1 p.T226_splice YWHAZ_uc003yjv.2_Splice_Site_p.T226_splice|YWHAZ_uc011lhf.1_Splice_Site_p.T226_splice|YWHAZ_uc003yjw.2_Splice_Site_p.T226_splice|YWHAZ_uc010mbq.2_Splice_Site_p.T149_splice|YWHAZ_uc011lhg.1_Splice_Site_p.T106_splice|YWHAZ_uc010mbr.2_Splice_Site_p.T226_splice|YWHAZ_uc003yjx.2_Splice_Site_p.T226_splice|YWHAZ_uc003yjy.2_Missense_Mutation_p.V227L NM_001135702 NP_001129174 P63104 1433Z_HUMAN tyrosine 3/tryptophan 5 -monooxygenase anti-apoptosis|mRNA metabolic process|platelet activation|signal transduction cytosol|melanosome transcription factor binding 0 all_cancers(14;7.43e-06)|all_epithelial(15;2.77e-08)|Lung NSC(17;6.08e-05)|all_lung(17;0.000197) Epithelial(11;2.79e-11)|all cancers(13;5.45e-09)|OV - Ovarian serous cystadenocarcinoma(57;4.75e-05) Ginkgo biloba(DB01381) TATGTACTTACTGTCAAGTTG 0.303 NA 42 54 2.69774e-35 4.81673e-35 0.01441 1 0 CSMD3 114788 broad.mit.edu 37 8 114186070 114186070 + Missense_Mutation SNP C C G TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr8:114186070C>G uc003ynu.2 - 4 749 c.590G>C c.(589-591)GGG>GCG p.G197A CSMD3_uc003ynt.2_Missense_Mutation_p.G157A|CSMD3_uc011lhx.1_Missense_Mutation_p.G197A|CSMD3_uc010mcx.1_Missense_Mutation_p.G197A NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 197 Extracellular (Potential).|Sushi 1. integral to membrane|plasma membrane ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1) 63 GATCTTGTCCCCGACGTCGAA 0.458 NA HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 21 86 0 0 0.010504 0 0 KCNQ3 3786 broad.mit.edu 37 8 133196529 133196529 + Missense_Mutation SNP C C A TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr8:133196529C>A uc003ytj.2 - 3 788 c.563G>T c.(562-564)CGG>CTG p.R188L KCNQ3_uc010mdt.2_Missense_Mutation_p.R188L NM_004519 NP_004510 O43525 KCNQ3_HUMAN potassium voltage-gated channel KQT-like protein 188 axon guidance|synaptic transmission voltage-gated potassium channel complex voltage-gated potassium channel activity ovary(2)|breast(1)|central_nervous_system(1)|skin(1) 5 Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000311) CAGTCGGCCCCGCCAGCCTTT 0.537 NA 63 81 4.09171e-25 7.03774e-25 0.01441 1 0 FAM135B 51059 broad.mit.edu 37 8 139160884 139160884 + Silent SNP T T C TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr8:139160884T>C uc003yuy.2 - 14 3498 c.3327A>G c.(3325-3327)GAA>GAG p.E1109E FAM135B_uc003yux.2_Silent_p.E1010E|FAM135B_uc003yuz.2_Intron|FAM135B_uc003yva.2_Silent_p.E671E|FAM135B_uc003yvb.2_Intron NM_015912 NP_056996 Q49AJ0 F135B_HUMAN hypothetical protein LOC51059 1109 ovary(7)|skin(2) 9 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) ACAGAAATCCTTCAATCTTCA 0.363 NA HNSCC(54;0.14) 25 14 0 0 0.003954 0 0 TSNARE1 203062 broad.mit.edu 37 8 143395770 143395770 + Missense_Mutation SNP G G A TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr8:143395770G>A uc003ywk.2 - 9 1224 c.1106C>T c.(1105-1107)CCC>CTC p.P369L TSNARE1_uc011lju.1_Missense_Mutation_p.P368L|TSNARE1_uc003ywj.2_Missense_Mutation_p.P369L|TSNARE1_uc003ywl.3_Missense_Mutation_p.P149L NM_145003 NP_659440 Q96NA8 TSNA1_HUMAN t-SNARE domain containing 1 369 vesicle-mediated transport integral to membrane 0 all_cancers(97;7.39e-11)|all_epithelial(106;8.98e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000332)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155) CTGCGCCATGGGAAGCAGCGC 0.522 NA 8 23 0 0 0.008291 0 0 GPIHBP1 338328 broad.mit.edu 37 8 144296999 144296999 + Missense_Mutation SNP C C A TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr8:144296999C>A uc003yxu.1 + 3 368 c.293C>A c.(292-294)ACC>AAC p.T98N NM_178172 NP_835466 Q8IV16 HDBP1_HUMAN glycosylphosphatidylinositol anchored high 98 UPAR/Ly6. cholesterol homeostasis|intracellular protein transport|positive regulation of chylomicron remnant clearance|positive regulation of lipoprotein lipase activity|protein import|protein localization at cell surface|protein stabilization|response to heparin|triglyceride homeostasis anchored to external side of plasma membrane|apical plasma membrane|basolateral plasma membrane|high-density lipoprotein particle|integral to membrane|intracellular apolipoprotein binding|chylomicron binding|lipase binding|lipid binding|protein transmembrane transporter activity 0 all_cancers(97;6.49e-11)|all_epithelial(106;2.77e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) CACGGGAACACCGGTAAGTGG 0.677 NA 9 28 1.12685e-05 1.29789e-05 0.004482 1 0 DENND4C 55667 broad.mit.edu 37 9 19316466 19316466 + Silent SNP C C T TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr9:19316466C>T uc003znq.2 + 7 864 c.831C>T c.(829-831)TGC>TGT p.C277C DENND4C_uc011lnc.1_5'UTR NM_017925 NP_060395 Q5VZ89 DEN4C_HUMAN DENN/MADD domain containing 4C 277 integral to membrane ovary(1)|skin(1) 2 AAAAGCCGTGCAAAAATCTAC 0.328 NA 15 12 0 0 0.006122 0 0 MOBKL2B 79817 broad.mit.edu 37 9 27359199 27359199 + Nonsense_Mutation SNP T T A TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr9:27359199T>A uc003zqn.2 - 3 950 c.454A>T c.(454-456)AAG>TAG p.K152* NM_024761 NP_079037 Q86TA1 MOL2B_HUMAN MOB1, Mps One Binder kinase activator-like 2B 152 K -> M (in Ref. 5; AAH33027). metal ion binding|protein binding ovary(1)|pleura(1) 2 all_neural(11;9.12e-11) Lung(218;6.54e-05)|LUSC - Lung squamous cell carcinoma(38;0.000397) AGGATCTTCTTGCAGATCTGA 0.473 NA 49 125 0 0 0.01441 0 0 LINGO2 158038 broad.mit.edu 37 9 27949358 27949358 + Missense_Mutation SNP G G A TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr9:27949358G>A uc003zqu.1 - 2 1506 c.1312C>T c.(1312-1314)CCG>TCG p.P438S LINGO2_uc010mjf.1_Missense_Mutation_p.P438S|LINGO2_uc003zqv.1_Missense_Mutation_p.P438S NM_152570 NP_689783 Q7L985 LIGO2_HUMAN leucine rich repeat and Ig domain containing 2 438 Ig-like C2-type.|Extracellular (Potential). 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) ACAGGCTGCGGGTCTCCATCT 0.517 NA 14 40 0 0 0.00245 0 0 TOPORS 10210 broad.mit.edu 37 9 32541401 32541401 + Missense_Mutation SNP T T C TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr9:32541401T>C uc003zrb.2 - 3 3289 c.3122A>G c.(3121-3123)GAC>GGC p.D1041G TOPORS_uc003zrc.2_Missense_Mutation_p.D974G NM_005802 NP_005793 Q9NS56 TOPRS_HUMAN topoisomerase I binding, arginine/serine-rich 1041 DNA damage response, signal transduction resulting in induction of apoptosis|maintenance of protein location in nucleus|proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation|transcription, DNA-dependent nuclear speck|PML body antigen binding|DNA binding|DNA topoisomerase I binding|SUMO ligase activity|ubiquitin-protein ligase activity|zinc ion binding ovary(3)|upper_aerodigestive_tract(1)|skin(1) 5 LUSC - Lung squamous cell carcinoma(29;0.0181) GBM - Glioblastoma multiforme(74;0.0018) CATATCACAGTCTCTACCAAG 0.383 NA 10 29 0 0 0.010729 0 0 TAF1L 138474 broad.mit.edu 37 9 32635371 32635371 + Silent SNP C C T TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr9:32635371C>T uc003zrg.1 - 1 297 c.207G>A c.(205-207)GGG>GGA p.G69G uc003zrh.1_Intron NM_153809 NP_722516 Q8IZX4 TAF1L_HUMAN TBP-associated factor RNA polymerase 1-like 69 male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent transcription factor TFIID complex DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding lung(8)|skin(6)|central_nervous_system(4)|large_intestine(3)|ovary(2)|stomach(1)|breast(1)|pancreas(1) 26 LUSC - Lung squamous cell carcinoma(29;0.0181) GBM - Glioblastoma multiforme(74;0.00301) GCCCCAAAGCCCCCAAGCCTG 0.537 NA 23 79 0 0 0.004656 0 0 C9orf100 84904 broad.mit.edu 37 9 35663038 35663038 + Missense_Mutation SNP C C T TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr9:35663038C>T uc003zxm.1 - 6 690 c.578G>A c.(577-579)AGA>AAA p.R193K C9orf100_uc003zxl.2_RNA NM_032818 NP_116207 Q8N4T4 CI100_HUMAN hypothetical protein LOC84904 193 DH. regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity 0 all_epithelial(49;0.217) Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194) AGTATGGACTCTCTGGGCAGT 0.537 NA 9 51 0 0 0.006214 0 0 FAM75A6 389730 broad.mit.edu 37 9 43625072 43625072 + Silent SNP G G A TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr9:43625072G>A uc011lrb.1 - 4 3644 c.3615C>T c.(3613-3615)CTC>CTT p.L1205L NM_001145196 NP_001138668 Q5VVP1 F75A6_HUMAN hypothetical protein LOC389730 1205 integral to membrane 0 CTGCCGTCATGAGACCCTGAG 0.468 NA 50 122 0 0 0.01441 0 0 Unknown 0 broad.mit.edu 37 9 84675888 84675888 + Silent SNP C C T TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr9:84675888C>T uc010mpu.1 - 3 540 c.537G>A c.(535-537)GGG>GGA p.G179G NM_001164339 NP_001157811 hypothetical protein LOC404770 NA AGAGTGGAGTCCCACAGGGGA 0.562 NA 89 166 0 0 0.01441 0 0 ROR2 4920 broad.mit.edu 37 9 94486827 94486827 + Missense_Mutation SNP C C A TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr9:94486827C>A uc004arj.1 - 9 2148 c.1949G>T c.(1948-1950)GGG>GTG p.G650V ROR2_uc004ari.1_Missense_Mutation_p.G510V NM_004560 NP_004551 Q01974 ROR2_HUMAN receptor tyrosine kinase-like orphan receptor 2 650 Cytoplasmic (Potential).|Protein kinase. negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding lung(8)|central_nervous_system(5)|ovary(3)|large_intestine(2)|stomach(1)|breast(1) 20 CAGCGAGTTCCCCAGCAGCTT 0.572 NA 16 33 1.02788e-11 1.45312e-11 0.00499 1 0 ZNF484 83744 broad.mit.edu 37 9 95609655 95609655 + Missense_Mutation SNP C C G TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr9:95609655C>G uc004asu.1 - 5 1563 c.1414G>C c.(1414-1416)GAA>CAA p.E472Q ANKRD19_uc004asr.3_Intron|ZNF484_uc011lub.1_Missense_Mutation_p.E474Q|ZNF484_uc010mrb.1_Missense_Mutation_p.E436Q|ZNF484_uc004asv.1_Missense_Mutation_p.E436Q NM_031486 NP_113674 Q5JVG2 ZN484_HUMAN zinc finger protein 484 isoform a 472 C2H2-type 8. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 TTCCCACATTCTGAACATATA 0.393 NA 6 31 0 0 0.001168 0 0 FAM22F 54754 broad.mit.edu 37 9 97082809 97082809 + Missense_Mutation SNP C C A TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr9:97082809C>A uc004aup.1 - 5 1070 c.1049G>T c.(1048-1050)AGG>ATG p.R350M NM_017561 NP_060031 A1L443 FA22F_HUMAN hypothetical protein LOC54754 350 Pro-rich. 0 Acute lymphoblastic leukemia(62;0.136) CTCCGCTGGCCTCTGGGGCCT 0.701 NA 11 21 2.48551e-13 3.69602e-13 0.00499 1 0 OR13F1 138805 broad.mit.edu 37 9 107267135 107267135 + Missense_Mutation SNP A A T TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr9:107267135A>T uc011lvm.1 + 1 592 c.592A>T c.(592-594)ATC>TTC p.I198F NM_001004485 NP_001004485 Q8NGS4 O13F1_HUMAN olfactory receptor, family 13, subfamily F, 198 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(1)|ovary(1)|skin(1) 3 GGTGCAGTTAATCATGCTGGT 0.438 NA 60 116 0 0 0.01441 0 0 KIAA1958 158405 broad.mit.edu 37 9 115422119 115422119 + Missense_Mutation SNP C C T TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr9:115422119C>T uc004bgf.1 + 4 2096 c.1921C>T c.(1921-1923)CGG>TGG p.R641W KIAA1958_uc011lwx.1_Missense_Mutation_p.R669W NM_133465 NP_597722 Q8N8K9 K1958_HUMAN hypothetical protein LOC158405 641 skin(1) 1 GTACATCCACCGGCCGCCCAC 0.587 NA 3 29 0 0 0.004672 0 0 PAPPA 5069 broad.mit.edu 37 9 119115904 119115904 + Silent SNP G G A TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr9:119115904G>A uc004bjn.2 + 17 4560 c.4179G>A c.(4177-4179)CGG>CGA p.R1393R PAPPA_uc011lxq.1_Silent_p.R768R NM_002581 NP_002572 Q13219 PAPP1_HUMAN pregnancy-associated plasma protein A 1393 Sushi 3. cell differentiation|female pregnancy cytoplasm|extracellular region|membrane metalloendopeptidase activity|zinc ion binding ovary(4)|skin(4)|pancreas(1) 9 CTTGAAGACGGGCCTTCAAGA 0.537 NA 24 56 0 0 0.00333 0 0 TTLL11 158135 broad.mit.edu 37 9 124855658 124855658 + Missense_Mutation SNP C C T TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr9:124855658C>T uc004blt.1 - 1 228 c.40G>A c.(40-42)GCA>ACA p.A14T TTLL11_uc011lyl.1_Missense_Mutation_p.A14T|TTLL11_uc004blr.2_RNA|TTLL11_uc004blu.1_Missense_Mutation_p.A14T NM_194252 NP_919228 Q8NHH1 TTL11_HUMAN tubulin tyrosine ligase-like family, member 11 14 protein modification process cilium|microtubule basal body tubulin-tyrosine ligase activity 0 GGCGAGGCTGCCCACGTGACC 0.692 NA 6 12 0 0 0.001168 0 0 KIAA0649 9858 broad.mit.edu 37 9 138376987 138376987 + Missense_Mutation SNP G G T TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr9:138376987G>T uc004cfr.1 + 4 1180 c.631G>T c.(631-633)GCC>TCC p.A211S NM_014811 NP_055626 Q5T8A7 K0649_HUMAN 1A6/DRIM (down-regulated in metastasis) 211 nucleolus protein binding ovary(2)|central_nervous_system(1) 3 OV - Ovarian serous cystadenocarcinoma(145;6.91e-08)|Epithelial(140;4.69e-07)|all cancers(34;9.33e-06) CCAGGGCTCCGCCTCCCCGGT 0.592 NA 34 76 1.96642e-18 3.21099e-18 0.006999 1 0 UAP1L1 91373 broad.mit.edu 37 9 139973038 139973038 + Missense_Mutation SNP C C A TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr9:139973038C>A uc010ncb.2 + 3 611 c.579C>A c.(577-579)AAC>AAA p.N193K UAP1L1_uc004cla.3_Missense_Mutation_p.N70K NM_207309 NP_997192 Q3KQV9 UAP1L_HUMAN UDP-N-acteylglucosamine pyrophosphorylase 1-like 193 nucleotidyltransferase activity ovary(1) 1 all_cancers(76;0.0926) Myeloproliferative disorder(178;0.0821) STAD - Stomach adenocarcinoma(284;0.0878) OV - Ovarian serous cystadenocarcinoma(145;2.96e-05)|Epithelial(140;0.000486) ACCCCGCCAACGTGGTCATGT 0.607 NA 8 50 1.26484e-09 1.66071e-09 0.00308 1 0 ARSH 347527 broad.mit.edu 37 X 2933093 2933093 + Silent SNP C C T TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chrX:2933093C>T uc011mhj.1 + 4 423 c.423C>T c.(421-423)TAC>TAT p.Y141Y NM_001011719 NP_001011719 Q5FYA8 ARSH_HUMAN arylsulfatase family, member H 141 integral to membrane arylsulfatase activity|metal ion binding lung(1) 1 all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186) ACTACTTTTACGGGGTGCCTT 0.498 NA 8 21 0 0 0.004482 0 0 MID1 4281 broad.mit.edu 37 X 10417750 10417750 + Silent SNP G G T TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chrX:10417750G>T uc004cte.3 - 10 1853 c.1662C>A c.(1660-1662)GCC>GCA p.A554A MID1_uc004ctd.3_Silent_p.A265A|MID1_uc004ctg.3_Silent_p.A554A|MID1_uc004cth.3_Silent_p.A516A|MID1_uc004ctk.3_Silent_p.A554A|MID1_uc004cti.3_Silent_p.A554A|MID1_uc004ctj.3_Silent_p.A554A|MID1_uc004csz.3_Silent_p.A226A|MID1_uc004cta.3_Silent_p.A310A|MID1_uc004ctb.3_Silent_p.A214A|MID1_uc004ctc.3_Silent_p.A321A NM_033290 NP_150632 O15344 TRI18_HUMAN midline 1 554 B30.2/SPRY. microtubule cytoskeleton organization|pattern specification process|positive regulation of stress-activated MAPK cascade cytoplasm|microtubule|microtubule associated complex|spindle ligase activity|ubiquitin protein ligase binding|zinc ion binding ovary(2)|pancreas(1) 3 CAAGACCAATGGCATACCTGC 0.478 NA 10 26 0.000673444 0.000722447 0.008291 1 0 ZRSR2 8233 broad.mit.edu 37 X 15840940 15840940 + Missense_Mutation SNP G G T TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chrX:15840940G>T uc004cxg.3 + 11 1069 c.1024G>T c.(1024-1026)GCT>TCT p.A342S NM_005089 NP_005080 Q15696 U2AFM_HUMAN U2 small nuclear RNA auxiliary factor 1-like 2 342 spliceosome assembly U12-type spliceosomal complex nucleotide binding|pre-mRNA 3'-splice site binding|protein binding|zinc ion binding breast(3) 3 Hepatocellular(33;0.183) ATTCTGGGAAGCTAATAGAGA 0.463 NSCLC(197;1631 3042 5741 31152) NA 18 48 6.49762e-13 9.57935e-13 0.006122 1 0 NHS 4810 broad.mit.edu 37 X 17746878 17746878 + Silent SNP A A G TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chrX:17746878A>G uc004cxx.2 + 7 4607 c.4269A>G c.(4267-4269)TTA>TTG p.L1423L NHS_uc011mix.1_Silent_p.L1444L|NHS_uc004cxy.2_Silent_p.L1267L|NHS_uc004cxz.2_Silent_p.L1246L|NHS_uc004cya.2_Silent_p.L1146L NM_198270 NP_938011 Q6T4R5 NHS_HUMAN Nance-Horan syndrome protein isoform 1 1423 nucleus skin(3)|ovary(2)|breast(1)|central_nervous_system(1) 7 Hepatocellular(33;0.183) CTGAGGATTTATTTGCAGTCA 0.443 NA 20 53 0 0 0.014323 0 0 CNKSR2 22866 broad.mit.edu 37 X 21627197 21627197 + Nonsense_Mutation SNP C C A TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chrX:21627197C>A uc004czx.1 + 20 2190 c.2154C>A c.(2152-2154)TGC>TGA p.C718* CNKSR2_uc004czw.2_Nonsense_Mutation_p.C718*|CNKSR2_uc011mjn.1_Nonsense_Mutation_p.C669*|CNKSR2_uc011mjo.1_Nonsense_Mutation_p.C688*|CNKSR2_uc004czy.2_Nonsense_Mutation_p.C310* NM_014927 NP_055742 Q8WXI2 CNKR2_HUMAN connector enhancer of kinase suppressor of Ras 718 regulation of signal transduction cytoplasm|membrane protein binding large_intestine(1)|lung(1) 2 AGATGAGTTGCGCCAGTCCTT 0.458 NA 11 24 6.40141e-05 7.14963e-05 0.010729 1 0 MAGEB18 286514 broad.mit.edu 37 X 26157161 26157161 + Missense_Mutation SNP G G T TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chrX:26157161G>T uc004dbq.1 + 2 246 c.59G>T c.(58-60)TGT>TTT p.C20F NM_173699 NP_775970 Q96M61 MAGBI_HUMAN melanoma antigen family B, 18 20 protein binding central_nervous_system(1) 1 CAGGCTCGTTGTGAGAATCAG 0.537 NA 17 35 4.75885e-15 7.26499e-15 0.00499 1 0 MAGEB3 4114 broad.mit.edu 37 X 30254096 30254096 + Silent SNP C C A TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chrX:30254096C>A uc004dca.1 + 5 792 c.55C>A c.(55-57)CGG>AGG p.R19R NM_002365 NP_002356 O15480 MAGB3_HUMAN melanoma antigen family B, 3 19 0 CCAGCAGACCCGGGGTCAGAC 0.532 NA 14 45 6.31663e-08 7.83505e-08 0.003163 1 0 MAGEB3 4114 broad.mit.edu 37 X 30254525 30254525 + Missense_Mutation SNP G G T TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chrX:30254525G>T uc004dca.1 + 5 1221 c.484G>T c.(484-486)GTG>TTG p.V162L NM_002365 NP_002356 O15480 MAGB3_HUMAN melanoma antigen family B, 3 162 MAGE. 0 CAACATGGAGGTGGTATTTGG 0.393 NA 15 32 0.000219431 0.000240396 0.00245 1 0 CXorf21 80231 broad.mit.edu 37 X 30578036 30578036 + Missense_Mutation SNP G G T TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chrX:30578036G>T uc004dcg.1 - 3 713 c.437C>A c.(436-438)TCT>TAT p.S146Y NM_025159 NP_079435 Q9HAI6 CX021_HUMAN hypothetical protein LOC80231 146 ovary(1) 1 ACTGCTCTCAGAGGGAAAATC 0.423 NA 12 29 1.49906e-05 1.71511e-05 0.00245 1 0 DMD 1756 broad.mit.edu 37 X 32398778 32398778 + Missense_Mutation SNP T T A TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chrX:32398778T>A uc004dda.1 - 34 4938 c.4694A>T c.(4693-4695)CAG>CTG p.Q1565L DMD_uc004dcw.2_Missense_Mutation_p.Q221L|DMD_uc004dcx.2_Missense_Mutation_p.Q224L|DMD_uc004dcz.2_Missense_Mutation_p.Q1442L|DMD_uc004dcy.1_Missense_Mutation_p.Q1561L|DMD_uc004ddb.1_Missense_Mutation_p.Q1557L|DMD_uc010ngo.1_Intron NM_004006 NP_003997 P11532 DMD_HUMAN dystrophin Dp427m isoform 1565 Spectrin 10.|Interaction with SYNM (By similarity). muscle filament sliding|peptide biosynthetic process cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding ovary(3)|pancreas(2)|large_intestine(1) 6 all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203) TTTCTCCAACTGTTGCTTTCT 0.323 NA 24 50 0 0 0.00333 0 0 FAM47B 170062 broad.mit.edu 37 X 34961170 34961170 + Missense_Mutation SNP C C A TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chrX:34961170C>A uc004ddi.1 + 1 240 c.222C>A c.(220-222)GAC>GAA p.D74E NM_152631 NP_689844 Q8NA70 FA47B_HUMAN hypothetical protein LOC170062 74 ovary(3)|breast(1) 4 GTCGCCGTGACGAGTTTTTAC 0.527 NA 24 55 3.08376e-08 3.85284e-08 0.00333 1 0 FAM47B 170062 broad.mit.edu 37 X 34961213 34961213 + Missense_Mutation SNP G G T TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chrX:34961213G>T uc004ddi.1 + 1 283 c.265G>T c.(265-267)GAC>TAC p.D89Y NM_152631 NP_689844 Q8NA70 FA47B_HUMAN hypothetical protein LOC170062 89 ovary(3)|breast(1) 4 TCCCCAAGCTGACCGCAAAAG 0.532 NA 29 56 2.81731e-10 3.79565e-10 0.010818 1 0 ZNF630 57232 broad.mit.edu 37 X 47917869 47917869 + Missense_Mutation SNP C C G TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chrX:47917869C>G uc004div.3 - 5 2214 c.1962G>C c.(1960-1962)TTG>TTC p.L654F ZNF630_uc010nhz.1_Intron|ZNF630_uc004diw.2_Missense_Mutation_p.L530F NM_001037735 NP_001032824 Q2M218 ZN630_HUMAN zinc finger protein 630 654 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|lung(1) 2 AGCATATATACAAGGTGTCTT 0.438 NA 14 36 0 0 0.004007 0 0 PPP1R3F 89801 broad.mit.edu 37 X 49138527 49138527 + Splice_Site SNP G G T TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chrX:49138527G>T uc004dnh.1 + 3 1159 c.1143_splice c.e3+1 p.Q381_splice PPP1R3F_uc011mnd.1_Splice_Site_p.Q52_splice|PPP1R3F_uc004dni.2_Splice_Site_p.Q35_splice|PPP1R3F_uc004dnj.1_Splice_Site_p.Q35_splice NM_033215 NP_149992 Q6ZSY5 PPR3F_HUMAN protein phosphatase 1, regulatory (inhibitor) integral to membrane ovary(2)|skin(1) 3 Ovarian(276;0.236) GACACTTCAGGTAAGTGGGTC 0.592 NA 10 22 0.000673444 0.000722447 0.008291 1 0 DGKK 139189 broad.mit.edu 37 X 50121611 50121611 + Missense_Mutation SNP G G A TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chrX:50121611G>A uc010njr.1 - 21 3001 c.2941C>T c.(2941-2943)CGT>TGT p.R981C NM_001013742 NP_001013764 Q5KSL6 DGKK_HUMAN diacylglycerol kinase kappa 981 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress cytoplasm|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding ovary(1)|kidney(1) 2 Ovarian(276;0.236) TTGATGATACGGGACATTGCC 0.542 NA 5 20 0 0 0.001984 0 0 HSD17B10 3028 broad.mit.edu 37 X 53459013 53459013 + Missense_Mutation SNP C C A TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chrX:53459013C>A uc004dsl.1 - 4 440 c.409G>T c.(409-411)GGC>TGC p.G137C HSD17B10_uc004dsm.1_Missense_Mutation_p.G137C NM_004493 NP_004484 Q99714 HCD2_HUMAN hydroxysteroid (17-beta) dehydrogenase 10 137 branched chain family amino acid catabolic process|lipid metabolic process|tRNA processing mitochondrial matrix|plasma membrane 3-hydroxy-2-methylbutyryl-CoA dehydrogenase activity|3-hydroxyacyl-CoA dehydrogenase activity|cholate 7-alpha-dehydrogenase activity 0 NADH(DB00157) TCATTCTGGCCCATCTCACCA 0.562 NA 26 53 1.85244e-09 2.42604e-09 0.00333 1 0 HUWE1 10075 broad.mit.edu 37 X 53579703 53579703 + Missense_Mutation SNP C C G TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chrX:53579703C>G uc004dsp.2 - 62 9048 c.8646G>C c.(8644-8646)CAG>CAC p.Q2882H HUWE1_uc004dsn.2_Missense_Mutation_p.Q1706H NM_031407 NP_113584 Q7Z6Z7 HUWE1_HUMAN HECT, UBA and WWE domain containing 1 2882 base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus DNA binding|protein binding|ubiquitin-protein ligase activity ovary(8)|large_intestine(4)|breast(4)|kidney(1) 17 CTGCTCTGGGCTGCTCAGAAC 0.607 NA 20 43 0 0 0.00278 0 0 FGD1 2245 broad.mit.edu 37 X 54496629 54496629 + Missense_Mutation SNP G G T TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chrX:54496629G>T uc004dtg.2 - 4 1655 c.921C>A c.(919-921)AGC>AGA p.S307R FGD1_uc011moi.1_Missense_Mutation_p.S65R NM_004463 NP_004454 P98174 FGD1_HUMAN faciogenital dysplasia protein 307 Pro-rich. actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|organ morphogenesis|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction cytoskeleton|cytosol|Golgi apparatus|lamellipodium|nucleus|plasma membrane|ruffle metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding ovary(3)|skin(2)|central_nervous_system(1) 6 AGAGGCTGTGGCTGGGGGGCC 0.637 NA 13 10 1.49906e-05 1.71511e-05 0.00245 1 0 ALAS2 212 broad.mit.edu 37 X 55042168 55042168 + Silent SNP G G T TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chrX:55042168G>T uc004dua.3 - 8 1149 c.1011C>A c.(1009-1011)ATC>ATA p.I337I ALAS2_uc004dub.3_Silent_p.I324I|ALAS2_uc004dud.3_Silent_p.I300I NM_000032 NP_000023 P22557 HEM0_HUMAN 5-aminolevulinate synthase 2 isoform a 337 cellular iron ion homeostasis|erythrocyte differentiation|heme biosynthetic process|hemoglobin biosynthetic process|oxygen homeostasis|response to hypoxia mitochondrial inner membrane|mitochondrial matrix 5-aminolevulinate synthase activity|coenzyme binding|glycine binding|protein binding|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups ovary(1) 1 Glycine(DB00145) CGAGGGGACAGATGGCACCTG 0.552 NA 10 32 7.03913e-09 9.0353e-09 0.013537 1 0 KLF8 11279 broad.mit.edu 37 X 56310764 56310764 + Missense_Mutation SNP G G T TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chrX:56310764G>T uc004dur.2 + 6 1863 c.917G>T c.(916-918)TGC>TTC p.C306F KLF8_uc011mop.1_3'UTR|KLF8_uc010nkh.2_RNA NM_007250 NP_009181 O95600 KLF8_HUMAN Kruppel-like factor 8 isoform 1 306 C2H2-type 2. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 CCTTATAAATGCACCTGGGAT 0.448 NA 2 7 0.004672 0.00484087 0.004672 1 0 UBQLN2 29978 broad.mit.edu 37 X 56591627 56591627 + Missense_Mutation SNP G G T TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chrX:56591627G>T uc004dus.2 + 1 1556 c.1321G>T c.(1321-1323)GAC>TAC p.D441Y UBQLN2_uc011moq.1_Missense_Mutation_p.D441Y NM_013444 NP_038472 Q9UHD9 UBQL2_HUMAN ubiquilin 2 441 cytoplasm|nucleus|plasma membrane binding ovary(1)|skin(1) 2 GCAGAATCCAGACACACTATC 0.532 Esophageal Squamous(104;218 1492 6022 10838 28884) NA 13 40 2.32078e-09 3.01644e-09 0.003163 1 0 PJA1 64219 broad.mit.edu 37 X 68382689 68382689 + Silent SNP A A T TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chrX:68382689A>T uc004dxh.2 - 2 679 c.393T>A c.(391-393)GCT>GCA p.A131A PJA1_uc011mpi.1_5'UTR|PJA1_uc004dxg.2_Intron|PJA1_uc004dxi.2_Silent_p.A76A NM_145119 NP_660095 Q8NG27 PJA1_HUMAN praja 1 isoform a 131 zinc ion binding 0 CAACAGGCCCAGCCCCCTCCT 0.532 NA 25 34 0 0 0.005443 0 0 TEX11 56159 broad.mit.edu 37 X 69902567 69902567 + Missense_Mutation SNP C C A TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chrX:69902567C>A uc004dyl.2 - 15 1320 c.1158G>T c.(1156-1158)AAG>AAT p.K386N TEX11_uc004dyk.2_Missense_Mutation_p.K61N|TEX11_uc004dym.2_Missense_Mutation_p.K371N NM_001003811 NP_001003811 Q8IYF3 TEX11_HUMAN testis expressed sequence 11 isoform 1 386 protein binding ovary(3)|breast(1)|skin(1) 5 Renal(35;0.156) GAAGTTCTTCCTTCCTTTGTA 0.333 NA 7 14 1.58986e-06 1.87728e-06 0.008291 1 0 ZMYM3 9203 broad.mit.edu 37 X 70465190 70465190 + Missense_Mutation SNP C C G TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chrX:70465190C>G uc004dzh.1 - 18 3093 c.3006G>C c.(3004-3006)AAG>AAC p.K1002N BCYRN1_uc011mpt.1_Intron|ZMYM3_uc004dzi.1_Missense_Mutation_p.K1002N|ZMYM3_uc004dzj.1_Missense_Mutation_p.K990N NM_201599 NP_963893 Q14202 ZMYM3_HUMAN zinc finger protein 261 1002 multicellular organismal development nucleus DNA binding|zinc ion binding ovary(1) 1 Renal(35;0.156) CTTACTCACTCTTAGGGAAGT 0.527 NA 20 45 0 0 0.00278 0 0 RGAG4 340526 broad.mit.edu 37 X 71350845 71350845 + Silent SNP G G A TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chrX:71350845G>A uc010nlh.1 - 1 907 c.546C>T c.(544-546)CCC>CCT p.P182P NHSL2_uc011mqa.1_Intron|RGAG4_uc004eaj.1_RNA|NHSL2_uc004eak.1_5'Flank NM_001024455 NP_001019626 Q5HYW3 RGAG4_HUMAN retrotransposon gag domain containing 4 182 ovary(2)|skin(1) 3 Renal(35;0.156) CGGCGCCCCCGGGGAAATGAA 0.582 NA 7 32 0 0 0.001984 0 0 MAGEE1 57692 broad.mit.edu 37 X 75648363 75648363 + Missense_Mutation SNP C C T TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chrX:75648363C>T uc004ecm.1 + 1 247 c.40C>T c.(40-42)CGC>TGC p.R14C NM_020932 NP_065983 Q9HCI5 MAGE1_HUMAN melanoma antigen family E, 1 14 Poly-Arg. dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane breast(3)|ovary(1)|pancreas(1)|skin(1) 6 ccgccgccgccgcgTTGCAAA 0.562 NA 5 17 0 0 0.000602 0 0 DRP2 1821 broad.mit.edu 37 X 100505499 100505499 + Missense_Mutation SNP G G T TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chrX:100505499G>T uc004egz.2 + 15 1997 c.1628G>T c.(1627-1629)CGT>CTT p.R543L DRP2_uc011mrh.1_Missense_Mutation_p.R465L NM_001939 NP_001930 Q13474 DRP2_HUMAN dystrophin related protein 2 543 central nervous system development cytoplasm|cytoskeleton zinc ion binding ovary(2) 2 CAGGTGCCCCGTCAGCTGGGT 0.552 NA 35 78 9.8876e-21 1.66189e-20 0.004878 1 0 TAF7L 54457 broad.mit.edu 37 X 100548010 100548010 + Silent SNP G G C TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chrX:100548010G>C uc004ehb.2 - 1 36 c.24C>G c.(22-24)CTC>CTG p.L8L TAF7L_uc004ehc.1_5'Flank NM_024885 NP_079161 Q5H9L4 TAF7L_HUMAN TATA box binding protein-associated factor, RNA 8 cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription initiation from RNA polymerase II promoter cytoplasm|transcription factor TFIID complex binding breast(1) 1 AAGAAATGGGGAGCTGTCCCT 0.493 Ovarian(104;431 1530 3210 15406 18594) NA 76 235 0 0 0.01441 0 0 NXF5 55998 broad.mit.edu 37 X 101092551 101092551 + Missense_Mutation SNP T T A TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chrX:101092551T>A uc011mrk.1 - 15 1355 c.995A>T c.(994-996)CAG>CTG p.Q332L NXF5_uc004eih.1_RNA|NXF5_uc004eii.1_RNA|NXF5_uc004eij.1_RNA|NXF5_uc004eik.1_RNA|NXF5_uc004eil.1_RNA NM_032946 NP_116564 Q9H1B4 NXF5_HUMAN nuclear RNA export factor 5 332 NTF2; truncated. mRNA export from nucleus|multicellular organismal development actin cytoskeleton|cytoplasm|nucleus nucleocytoplasmic transporter activity|nucleotide binding|protein binding|RNA binding central_nervous_system(1) 1 GAAGTCATGCTGAGTTTCAGG 0.542 NA 53 110 0 0 0.01441 0 0 GPRASP1 9737 broad.mit.edu 37 X 101911737 101911737 + Missense_Mutation SNP G G T TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chrX:101911737G>T uc004ejj.3 + 5 3697 c.2896G>T c.(2896-2898)GGG>TGG p.G966W GPRASP1_uc004eji.3_Missense_Mutation_p.G966W|GPRASP1_uc010nod.2_Missense_Mutation_p.G966W NM_014710 NP_055525 Q5JY77 GASP1_HUMAN G protein-coupled receptor associated sorting 966 Glu-rich.|OPRD1-binding. cytoplasm protein binding ovary(1)|lung(1) 2 AAATGAGGAAGGGGCCATTGT 0.473 NA 15 56 5.3912e-06 6.25137e-06 0.006122 1 0 GPRASP1 9737 broad.mit.edu 37 X 101911813 101911813 + Missense_Mutation SNP C C G TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chrX:101911813C>G uc004ejj.3 + 5 3773 c.2972C>G c.(2971-2973)TCC>TGC p.S991C GPRASP1_uc004eji.3_Missense_Mutation_p.S991C|GPRASP1_uc010nod.2_Missense_Mutation_p.S991C NM_014710 NP_055525 Q5JY77 GASP1_HUMAN G protein-coupled receptor associated sorting 991 OPRD1-binding. cytoplasm protein binding ovary(1)|lung(1) 2 AACTGTGGGTCCAGGACATTA 0.517 NA 13 73 0 0 0.00245 0 0 MORF4L2 9643 broad.mit.edu 37 X 102931962 102931962 + Translation_Start_Site SNP C C A TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chrX:102931962C>A uc004ekw.2 - 4 1226 c.-6G>T c.(-8--4)CAGGG>CATGG MORF4L2_uc004ela.2_Translation_Start_Site|MORF4L2_uc004ekx.2_Translation_Start_Site|MORF4L2_uc004elb.2_Translation_Start_Site|MORF4L2_uc004eky.2_Translation_Start_Site|MORF4L2_uc010nos.2_Translation_Start_Site|MORF4L2_uc004ekz.2_Translation_Start_Site|MORF4L2_uc011mry.1_Translation_Start_Site|MORF4L2_uc011mrz.1_Translation_Start_Site|MORF4L2_uc004elc.2_Translation_Start_Site|MORF4L2_uc004elf.2_Translation_Start_Site|MORF4L2_uc004ele.2_Translation_Start_Site|MORF4L2_uc011msa.1_Translation_Start_Site|MORF4L2_uc011msb.1_Translation_Start_Site|MORF4L2_uc011msc.1_Translation_Start_Site|MORF4L2_uc011msd.1_Translation_Start_Site|MORF4L2_uc004eld.2_Translation_Start_Site NM_012286 NP_036418 Q15014 MO4L2_HUMAN mortality factor 4 like 2 chromatin modification|DNA repair|regulation of cell growth|transcription, DNA-dependent nucleolus protein binding 0 TCATTCAACCCTGTTTTTATT 0.368 NA 14 57 2.23348e-06 2.62523e-06 0.004007 1 0 PLP1 5354 broad.mit.edu 37 X 103041545 103041545 + Missense_Mutation SNP G G A TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chrX:103041545G>A uc010nov.2 + 4 623 c.343G>A c.(343-345)GCA>ACA p.A115T RAB9B_uc004eli.1_Intron|PLP1_uc004elk.2_Missense_Mutation_p.A115T|PLP1_uc004elj.2_Missense_Mutation_p.A115T|PLP1_uc011msf.1_Missense_Mutation_p.A60T|PLP1_uc010now.1_Missense_Mutation_p.A119T|PLP1_uc010nox.2_Missense_Mutation_p.A69T NM_001128834 NP_001122306 P60201 MYPR_HUMAN proteolipid protein 1 isoform 1 115 Cytoplasmic (Probable). cell death|synaptic transmission integral to membrane ovary(1) 1 GGGCCTGAGCGCAACGGTAAC 0.582 NA 42 93 0 0 0.006999 0 0 PLP1 5354 broad.mit.edu 37 X 103041617 103041617 + Missense_Mutation SNP T T A TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chrX:103041617T>A uc010nov.2 + 4 695 c.415T>A c.(415-417)TGT>AGT p.C139S RAB9B_uc004eli.1_Intron|PLP1_uc004elk.2_Missense_Mutation_p.C139S|PLP1_uc004elj.2_Intron|PLP1_uc011msf.1_Missense_Mutation_p.C84S|PLP1_uc010now.1_Missense_Mutation_p.C143S|PLP1_uc010nox.2_Missense_Mutation_p.C93S NM_001128834 NP_001122306 P60201 MYPR_HUMAN proteolipid protein 1 isoform 1 139 Cytoplasmic (Probable). Missing (in HLD1). cell death|synaptic transmission integral to membrane ovary(1) 1 GGAGCGGGTGTGTCATTGTTT 0.557 NA 58 139 0 0 0.01441 0 0 RNF128 79589 broad.mit.edu 37 X 105970235 105970235 + Missense_Mutation SNP C C G TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chrX:105970235C>G uc004eml.2 + 1 342 c.92C>G c.(91-93)CCG>CGG p.P31R RNF128_uc004emk.2_Intron NM_194463 NP_919445 Q8TEB7 RN128_HUMAN ring finger protein 128 isoform 1 31 endomembrane system|integral to membrane|perinuclear region of cytoplasm zinc ion binding ovary(1)|central_nervous_system(1) 2 GCCCTGAGTCCGCAGGCACCC 0.706 NA 3 17 0 0 0.009096 0 0 TSC22D3 1831 broad.mit.edu 37 X 106959973 106959973 + Silent SNP G G T TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chrX:106959973G>T uc004eng.2 - 1 319 c.69C>A c.(67-69)TCC>TCA p.S23S TSC22D3_uc004enf.2_5'Flank|TSC22D3_uc004enh.2_Intron|TSC22D3_uc004eni.2_Intron|TSC22D3_uc004enj.2_Intron NM_004089 NP_004080 Q99576 T22D3_HUMAN TSC22 domain family, member 3 isoform 2 23 AP1-binding (By similarity). sequence-specific DNA binding transcription factor activity 0 AAGAGAAGAAGGAGATGGAGA 0.612 NA 35 72 2.05212e-20 3.41578e-20 0.005524 1 0 ALG13 79868 broad.mit.edu 37 X 110951467 110951467 + Missense_Mutation SNP C C A TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chrX:110951467C>A uc011msy.1 + 4 630 c.596C>A c.(595-597)CCC>CAC p.P199H ALG13_uc011msw.1_Missense_Mutation_p.P121H|ALG13_uc011msx.1_Missense_Mutation_p.P95H|ALG13_uc011msz.1_Missense_Mutation_p.P121H|ALG13_uc011mta.1_Missense_Mutation_p.P95H|ALG13_uc011mtb.1_Missense_Mutation_p.P95H Q9NP73 ALG13_HUMAN SubName: Full=Asparagine-linked glycosylation 13 homolog (S. cerevisiae); 199 dolichol-linked oligosaccharide biosynthetic process|lipid glycosylation|post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane carbohydrate binding|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity lung(1) 1 CCTCTTACCCCCACCCTGTAC 0.468 NA 11 31 1.08611e-07 1.3249e-07 0.010729 1 0 UPF3B 65109 broad.mit.edu 37 X 118972440 118972440 + Missense_Mutation SNP T T A TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chrX:118972440T>A uc004erz.1 - 9 974 c.897A>T c.(895-897)GAA>GAT p.E299D UPF3B_uc004esa.1_Missense_Mutation_p.E286D NM_080632 NP_542199 Q9BZI7 REN3B_HUMAN UPF3 regulator of nonsense transcripts homolog B 299 Sufficient for association with EJC core. mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation|termination of RNA polymerase II transcription cytosol|exon-exon junction complex|nucleoplasm mRNA binding|nucleocytoplasmic transporter activity|nucleotide binding|protein binding ovary(2)|kidney(1) 3 TCTTGGCTTTTTCTCTTTTGT 0.363 NA 11 53 0 0 0.010729 0 0 UPF3B 65109 broad.mit.edu 37 X 118974609 118974609 + Silent SNP A A G TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chrX:118974609A>G uc004erz.1 - 8 923 c.846T>C c.(844-846)AAT>AAC p.N282N UPF3B_uc004esa.1_Intron NM_080632 NP_542199 Q9BZI7 REN3B_HUMAN UPF3 regulator of nonsense transcripts homolog B 282 Sufficient for association with EJC core. mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation|termination of RNA polymerase II transcription cytosol|exon-exon junction complex|nucleoplasm mRNA binding|nucleocytoplasmic transporter activity|nucleotide binding|protein binding ovary(2)|kidney(1) 3 TGGTCCTTACATTTTTCTGAT 0.388 NA 7 23 0 0 0.004482 0 0 OCRL 4952 broad.mit.edu 37 X 128709136 128709136 + Missense_Mutation SNP G G A TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chrX:128709136G>A uc004euq.2 + 16 1787 c.1622G>A c.(1621-1623)CGA>CAA p.R541Q OCRL_uc004eur.2_Missense_Mutation_p.R541Q NM_000276 NP_000267 Q01968 OCRL_HUMAN phosphatidylinositol polyphosphate 5-phosphatase 541 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction clathrin-coated vesicle|cytosol|early endosome|Golgi stack|Golgi-associated vesicle GTPase activator activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding lung(2)|ovary(1)|kidney(1) 4 GTGGATGAACGAAGGTACCGG 0.408 NA 31 48 0 0 0.005524 0 0 XPNPEP2 7512 broad.mit.edu 37 X 128901599 128901599 + Silent SNP C C A TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chrX:128901599C>A uc004eut.1 + 20 2005 c.1761C>A c.(1759-1761)ACC>ACA p.T587T NM_003399 NP_003390 O43895 XPP2_HUMAN X-prolyl aminopeptidase 2, membrane-bound 587 cellular process|proteolysis anchored to membrane|plasma membrane aminopeptidase activity|metal ion binding|metalloexopeptidase activity 0 GCTACCTGACCTTTGAAGTGG 0.572 NA 34 88 8.69298e-16 1.35108e-15 0.006999 1 0 BCORL1 63035 broad.mit.edu 37 X 129146954 129146954 + Missense_Mutation SNP G G T TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chrX:129146954G>T uc004evb.1 + 4 320 c.206G>T c.(205-207)AGC>ATC p.S69I BCORL1_uc010nrd.1_5'UTR NM_021946 NP_068765 Q5H9F3 BCORL_HUMAN BCL6 co-repressor-like 1 69 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus ovary(4)|breast(2)|lung(1) 7 GGAAGTGGCAGCAATGCCCGG 0.572 NA 44 163 3.31993e-32 5.86672e-32 0.01441 1 0 BCORL1 63035 broad.mit.edu 37 X 129149417 129149417 + Missense_Mutation SNP G G A TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chrX:129149417G>A uc004evb.1 + 4 2783 c.2669G>A c.(2668-2670)CGG>CAG p.R890Q BCORL1_uc010nrd.1_Missense_Mutation_p.R792Q NM_021946 NP_068765 Q5H9F3 BCORL_HUMAN BCL6 co-repressor-like 1 890 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus ovary(4)|breast(2)|lung(1) 7 GGGCAACCACGGCCTGGGGGC 0.577 NA 14 52 0 0 0.00245 0 0 AIFM1 9131 broad.mit.edu 37 X 129281502 129281502 + Missense_Mutation SNP G G T TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chrX:129281502G>T uc004evg.2 - 5 749 c.571C>A c.(571-573)CTG>ATG p.L191M AIFM1_uc011mus.1_Missense_Mutation_p.L191M|AIFM1_uc004evh.2_Missense_Mutation_p.L187M|AIFM1_uc004evi.2_Intron|AIFM1_uc004evk.2_RNA NM_004208 NP_004199 O95831 AIFM1_HUMAN programmed cell death 8 isoform 1 191 FAD-dependent oxidoreductase (By similarity). activation of caspase activity|apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|DNA damage response, signal transduction resulting in induction of apoptosis|DNA fragmentation involved in apoptotic nuclear change cytosol|mitochondrial inner membrane|mitochondrial intermembrane space|nucleus|perinuclear region of cytoplasm DNA binding|electron carrier activity|flavin adenine dinucleotide binding|oxidoreductase activity|protein binding ovary(4)|central_nervous_system(1) 5 TTGAATCGCAGTGTCTTTGTG 0.413 NA 18 72 9.7654e-05 0.000108364 0.007413 1 0 TFDP3 51270 broad.mit.edu 37 X 132351379 132351379 + Silent SNP C C T TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chrX:132351379C>T uc004exb.1 - 1 998 c.909G>A c.(907-909)GGG>GGA p.G303G NM_016521 NP_057605 Q5H9I0 TFDP3_HUMAN transcription factor Dp family, member 3 303 Involved in negatively regulating E2F activity.|DCB2 (By similarity). transcription factor complex DNA binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 Acute lymphoblastic leukemia(192;0.000127) CGGACTCTAGCCCAAAAGTCA 0.483 NA 17 49 0 0 0.00499 0 0 ZIC3 7547 broad.mit.edu 37 X 136649358 136649358 + Missense_Mutation SNP G G C TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chrX:136649358G>C uc004fak.2 + 1 1013 c.508G>C c.(508-510)GCT>CCT p.A170P NM_003413 NP_003404 O60481 ZIC3_HUMAN zinc finger protein of the cerebellum 3 170 cell differentiation|positive regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2)|breast(1) 3 Acute lymphoblastic leukemia(192;0.000127) TGAGCAGGGCGCTGGGCACCC 0.697 NA 13 44 0 0 0.00245 0 0 ATP11C 286410 broad.mit.edu 37 X 138878530 138878530 + Missense_Mutation SNP C C A TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chrX:138878530C>A uc004faz.2 - 12 1216 c.1117G>T c.(1117-1119)GGC>TGC p.G373C ATP11C_uc004fay.2_RNA|ATP11C_uc004fba.2_Missense_Mutation_p.G373C NM_173694 NP_775965 Q8NB49 AT11C_HUMAN ATPase, class VI, type 11C isoform a 373 Cytoplasmic (Potential). ATP biosynthetic process integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity ovary(5)|large_intestine(3) 8 Acute lymphoblastic leukemia(192;0.000127) AAGAAGGAGCCCAAGAATTTC 0.378 NA 15 27 1.5739e-10 2.13719e-10 0.004007 1 0 MTM1 4534 broad.mit.edu 37 X 149761086 149761086 + Missense_Mutation SNP G G T TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chrX:149761086G>T uc004fef.3 + 2 86 c.10G>T c.(10-12)GCA>TCA p.A4S MTM1_uc011mxx.1_RNA|MTM1_uc011mxy.1_Missense_Mutation_p.A4S|MTM1_uc011mxz.1_5'UTR|MTM1_uc010nte.2_5'UTR NM_000252 NP_000243 Q13496 MTM1_HUMAN myotubularin 4 endosome to lysosome transport|intermediate filament organization|mitochondrion distribution|mitochondrion morphogenesis|phosphatidylinositol dephosphorylation|protein transport|regulation of vacuole organization filopodium|late endosome|plasma membrane|ruffle intermediate filament binding|phosphatidylinositol binding|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity upper_aerodigestive_tract(1)|ovary(1)|kidney(1) 3 Acute lymphoblastic leukemia(192;6.56e-05) GATGGCTTCTGCATCAACTTC 0.328 NA 21 44 7.92952e-12 1.12408e-11 0.003954 1 0 MTM1 4534 broad.mit.edu 37 X 149809819 149809819 + Missense_Mutation SNP G G C TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chrX:149809819G>C uc004fef.3 + 8 682 c.606G>C c.(604-606)TTG>TTC p.L202F MTM1_uc011mxx.1_RNA|MTM1_uc011mxy.1_Missense_Mutation_p.L165F|MTM1_uc011mxz.1_Missense_Mutation_p.L87F|MTM1_uc010nte.2_Missense_Mutation_p.L70F NM_000252 NP_000243 Q13496 MTM1_HUMAN myotubularin 202 Myotubularin phosphatase. L -> S (in XCNM; severe). endosome to lysosome transport|intermediate filament organization|mitochondrion distribution|mitochondrion morphogenesis|phosphatidylinositol dephosphorylation|protein transport|regulation of vacuole organization filopodium|late endosome|plasma membrane|ruffle intermediate filament binding|phosphatidylinositol binding|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity upper_aerodigestive_tract(1)|ovary(1)|kidney(1) 3 Acute lymphoblastic leukemia(192;6.56e-05) CTGCTCTTTTGGTGGTTCCGT 0.428 NA 33 71 0 0 0.00623 0 0 VMA21 203547 broad.mit.edu 37 X 150572114 150572114 + Missense_Mutation SNP C C T TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chrX:150572114C>T uc004feu.2 + 2 141 c.65C>T c.(64-66)TCA>TTA p.S22L NM_001017980 NP_001017980 Q3ZAQ7 VMA21_HUMAN VMA21 vacuolar H+-ATPase homolog 22 vacuolar proton-transporting V-type ATPase complex assembly COPII vesicle coat|endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|integral to membrane|lysosome 0 AATGAAAGCTCATTAGCATCT 0.353 NA 24 84 0 0 0.003954 0 0 PNCK 139728 broad.mit.edu 37 X 152937358 152937358 + Missense_Mutation SNP C C A TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chrX:152937358C>A uc011myu.1 - 5 826 c.640G>T c.(640-642)GGG>TGG p.G214W PNCK_uc011myt.1_Missense_Mutation_p.G148W|PNCK_uc004fia.2_Missense_Mutation_p.G143W|PNCK_uc004fhz.3_Missense_Mutation_p.G29W|PNCK_uc010nuh.2_3'UTR|PNCK_uc011myv.1_Missense_Mutation_p.G158W|PNCK_uc011myw.1_Missense_Mutation_p.G158W NM_001039582 NP_001034671 Q6P2M8 KCC1B_HUMAN pregnancy upregulated non-ubiquitously expressed 131 Protein kinase. cytoplasm|nucleus ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity breast(1) 1 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) TGCACGATCCCCAGGCTGTGC 0.662 NA 10 23 2.74318e-10 3.70545e-10 0.006214 1 0 SLC6A8 6535 broad.mit.edu 37 X 152957557 152957557 + Nonsense_Mutation SNP G G T TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chrX:152957557G>T uc004fib.3 + 4 1050 c.772G>T c.(772-774)GGA>TGA p.G258* SLC6A8_uc004fic.3_Nonsense_Mutation_p.G258*|SLC6A8_uc011myx.1_Nonsense_Mutation_p.G143*|SLC6A8_uc010nuj.2_5'Flank|SLC6A8_uc010nui.1_Nonsense_Mutation_p.G143* NM_005629 NP_005620 P48029 SC6A8_HUMAN solute carrier family 6 member 8 isoform 1 258 Cytoplasmic (Potential). creatine metabolic process|muscle contraction integral to plasma membrane creatine:sodium symporter activity|neurotransmitter:sodium symporter activity pancreas(1) 1 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) Creatine(DB00148) CAAATCCACGGGAAAGGTACC 0.627 NA 3 12 1.024e-07 1.26408e-07 0.000602 1 0 TMEM187 8269 broad.mit.edu 37 X 153247965 153247965 + Missense_Mutation SNP C C A TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chrX:153247965C>A uc004fjq.2 + 2 986 c.452C>A c.(451-453)GCC>GAC p.A151D hsa-mir-3202-2|MI0014253_5'Flank NM_003492 NP_003483 Q14656 TM187_HUMAN transmembrane protein 187 151 Helical; (Potential). integral to membrane|transport vesicle 0 all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) GTCTCCCTGGCCAGTTATGGC 0.672 NA 6 21 2.0095e-06 2.36735e-06 0.001984 1 0 TKTL1 8277 broad.mit.edu 37 X 153533764 153533764 + Silent SNP C C A TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chrX:153533764C>A uc004fkg.2 + 2 429 c.243C>A c.(241-243)GTC>GTA p.V81V TKTL1_uc011mzl.1_Silent_p.V75V|TKTL1_uc011mzm.1_Silent_p.V81V|TKTL1_uc004fkh.2_Silent_p.V25V NM_012253 NP_036385 P51854 TKTL1_HUMAN transketolase-like 1 isoform a 81 glucose catabolic process|thiamine metabolic process cytoplasm|nucleus metal ion binding|transketolase activity ovary(3)|skin(1) 4 all_cancers(53;5.05e-16)|all_epithelial(53;1.82e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) ACCGATTTGTCCTCGCAAAGG 0.537 NA 15 27 8.10497e-08 1.00292e-07 0.010504 1 0 NTNG1 22854 broad.mit.edu 37 1 107691365 107691365 + Frame_Shift_Del DEL C C - TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr1:107691365delC uc001dvh.3 + 2 868 c.150delC c.(148-150)TGCfs p.C50fs NTNG1_uc001dvf.3_Frame_Shift_Del_p.C50fs|NTNG1_uc010out.1_Frame_Shift_Del_p.C50fs|NTNG1_uc001dvc.3_Frame_Shift_Del_p.C50fs|NTNG1_uc001dvd.1_Frame_Shift_Del_p.C50fs NM_001113226 NP_001106697 Q9Y2I2 NTNG1_HUMAN netrin G1 isoform 1 50 Laminin N-terminal. axonogenesis anchored to plasma membrane protein binding large_intestine(2)|ovary(2)|skin(2) 6 all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243) Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245) ACATGGCCTGCCAGCCGGAAT 0.478 NA 25 80 --- --- --- --- NA NA NA NA NA IGSF3 3321 broad.mit.edu 37 1 117120039 117120039 + Frame_Shift_Del DEL C C - TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr1:117120039delC uc001egr.1 - 11 4185 c.3480delG c.(3478-3480)GGGfs p.G1160fs IGSF3_uc001egq.1_Frame_Shift_Del_p.G1180fs NM_001007237 NP_001007238 O75054 IGSF3_HUMAN immunoglobulin superfamily, member 3 isoform 2 1160 Cytoplasmic (Potential). integral to membrane ovary(2) 2 Lung SC(450;0.225) all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05) Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166) CCCCATTCTTCCCATCAGAGT 0.522 NA 15 44 --- --- --- --- NA NA NA NA NA LCE2A 353139 broad.mit.edu 37 1 152671416 152671416 + Frame_Shift_Del DEL T T - TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr1:152671416delT uc001faj.2 + 2 90 c.39delT c.(37-39)CCTfs p.P13fs NM_178428 NP_848515 Q5TA79 LCE2A_HUMAN late cornified envelope 2A 13 Cys-rich. keratinization 0 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) GCCAGCCCCCTCCCAAGTGCC 0.552 NA 67 228 --- --- --- --- NA NA NA NA NA ST3GAL4 6484 broad.mit.edu 37 11 126278003 126278003 + Frame_Shift_Del DEL C C - TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr11:126278003delC uc001qds.2 + 7 570 c.351delC c.(349-351)TGCfs p.C117fs ST3GAL4_uc001qdt.2_Frame_Shift_Del_p.C113fs|ST3GAL4_uc009zcc.2_5'UTR|ST3GAL4_uc009zcd.2_Frame_Shift_Del_p.C106fs|ST3GAL4_uc001qdu.2_Frame_Shift_Del_p.C113fs|ST3GAL4_uc001qdv.2_Frame_Shift_Del_p.C117fs|ST3GAL4_uc009zce.2_Frame_Shift_Del_p.C113fs|ST3GAL4_uc001qdw.2_Frame_Shift_Del_p.C106fs|ST3GAL4_uc001qdx.1_Intron|ST3GAL4_uc001qdy.2_5'UTR|ST3GAL4_uc001qdz.2_5'UTR NM_006278 NP_006269 Q11206 SIA4C_HUMAN ST3 beta-galactoside alpha-2,3-sialyltransferase 117 Lumenal (Potential). post-translational protein modification|protein N-linked glycosylation via asparagine extracellular region|Golgi cisterna membrane|integral to Golgi membrane beta-galactoside alpha-2,3-sialyltransferase activity 0 all_hematologic(175;0.145) Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0739)|all_lung(97;0.0798)|all_neural(223;0.138) BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0767) GCCTCAGGTGCCGCCGCTGTG 0.597 NA 19 40 --- --- --- --- NA NA NA NA NA KIAA1409 57578 broad.mit.edu 37 14 94079174 94079175 + Frame_Shift_Ins INS - - A TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr14:94079174_94079175insA uc001ybv.1 + 25 3404_3405 c.3321_3322insA c.(3319-3324)ATCAAGfs p.I1107fs KIAA1409_uc001ybs.1_Frame_Shift_Ins_p.I1085fs NM_020818 NP_065869 Q9P2D8 UNC79_HUMAN hypothetical protein LOC57578 1262_1263 integral to membrane ovary(10)|skin(4)|large_intestine(3) 17 all_cancers(154;0.0354)|all_epithelial(191;0.216) Epithelial(152;0.188) ACAACACCATCAAGGACCTGCT 0.49 NA 11 54 --- --- --- --- NA NA NA NA NA SMCR8 140775 broad.mit.edu 37 17 18219588 18219588 + Frame_Shift_Del DEL A A - TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr17:18219588delA uc002gsy.3 + 1 995 c.485delA c.(484-486)CAGfs p.Q162fs NM_144775 NP_658988 Q8TEV9 SMCR8_HUMAN Smith-Magenis syndrome chromosome region, 162 central_nervous_system(1) 1 TCTGCAGACCAGCATAAAATC 0.522 NA 16 15 --- --- --- --- NA NA NA NA NA LAMA5 3911 broad.mit.edu 37 20 60888854 60888854 + Frame_Shift_Del DEL G G - TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr20:60888854delG uc002ycq.2 - 63 8576 c.8509delC c.(8509-8511)CTCfs p.L2837fs NM_005560 NP_005551 O15230 LAMA5_HUMAN laminin alpha 5 precursor 2837 Laminin G-like 1. angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex integrin binding ovary(1)|pancreas(1)|skin(1) 3 Breast(26;1.57e-08) BRCA - Breast invasive adenocarcinoma(19;4.36e-06) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) CCAAACTGGAGAGTCCTGAGG 0.348 NA 11 36 --- --- --- --- NA NA NA NA NA GPR27 2850 broad.mit.edu 37 3 71803229 71803231 + In_Frame_Del DEL GCG GCG - TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 GCG GCG - - GCG GCG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr3:71803229_71803231delGCG uc011bge.1 + 1 29_31 c.29_31delGCG c.(28-33)AGCGGC>AGC p.G13del EIF4E3_uc003dox.2_5'Flank|EIF4E3_uc011bgd.1_Intron|EIF4E3_uc010hoc.2_Intron NM_018971 NP_061844 Q9NS67 GPR27_HUMAN G protein-coupled receptor 27 13 Extracellular (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity ovary(1) 1 Prostate(10;0.00899) BRCA - Breast invasive adenocarcinoma(55;1.78e-05)|Epithelial(33;5.75e-05)|Lung(16;0.0012)|LUSC - Lung squamous cell carcinoma(21;0.00156) CCGGGTGGCAGCGGCGGCGGCGA 0.773 NA 2 4 --- --- --- --- NA NA NA NA NA PAPD7 11044 broad.mit.edu 37 5 6755013 6755014 + Frame_Shift_Del DEL AC AC - TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 AC AC - - AC AC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr5:6755013_6755014delAC uc003jdx.1 + 13 1713_1714 c.1584_1585delAC c.(1582-1587)AAACACfs p.K528fs PAPD7_uc011cmn.1_Frame_Shift_Del_p.K518fs|PAPD7_uc010itl.1_Frame_Shift_Del_p.K348fs NM_006999 NP_008930 Q5XG87 PAPD7_HUMAN DNA polymerase sigma 528_529 cell division|DNA replication|double-strand break repair|mitotic chromosome condensation|response to drug|sister chromatid cohesion nucleus DNA binding|DNA-directed DNA polymerase activity|metal ion binding|SMC protein binding ovary(1) 1 GGAGGAAAAAACACACACACAC 0.653 NSCLC(7;212 333 5667 23379 46547) NA 8 95 --- --- --- --- NA NA NA NA NA C7orf57 136288 broad.mit.edu 37 7 48075920 48075921 + Frame_Shift_Ins INS - - A TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chr7:48075920_48075921insA uc003toh.3 + 2 227_228 c.15_16insA c.(13-18)AGCAAGfs p.S5fs C7orf57_uc003toi.3_Intron NM_001100159 NP_001093629 Q8NEG2 CG057_HUMAN hypothetical protein LOC136288 5_6 ovary(1) 1 GGAACACAAGCAAGGAACTTCA 0.649 NA 4 6 --- --- --- --- NA NA NA NA NA CNKSR2 22866 broad.mit.edu 37 X 21534647 21534647 + Frame_Shift_Del DEL C C - TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2dfca795-a40d-4a4b-9dfd-af3d0a683c46 82ce5155-d67c-45f1-843b-f7bfb2e4675d g.chrX:21534647delC uc004czx.1 + 9 891 c.855delC c.(853-855)GACfs p.D285fs CNKSR2_uc004czw.2_Frame_Shift_Del_p.D285fs|CNKSR2_uc011mjn.1_Intron|CNKSR2_uc011mjo.1_Frame_Shift_Del_p.D285fs NM_014927 NP_055742 Q8WXI2 CNKR2_HUMAN connector enhancer of kinase suppressor of Ras 285 PDZ. regulation of signal transduction cytoplasm|membrane protein binding large_intestine(1)|lung(1) 2 TACGAGAGGACCCGAGTGGTG 0.418 NA 29 79 --- --- --- --- NA NA NA NA NA