Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_status validation_method validation_tumor_sample validation_alt_allele pox qox isArtifactMode oxoGCut SPATA21 374955 broad.mit.edu 37 1 16736455 16736455 + Missense_Mutation SNP C C G TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr1:16736455C>G uc001ayn.2 - 6 711 c.228G>C c.(226-228)CAG>CAC p.Q76H SPATA21_uc001ayl.1_RNA|SPATA21_uc010occ.1_Missense_Mutation_p.Q53H NM_198546 NP_940948 Q7Z572 SPT21_HUMAN spermatogenesis associated 21 76 calcium ion binding ovary(2)|breast(1) 3 Colorectal(325;0.000147)|Renal(390;0.00145)|Lung NSC(340;0.00215)|Breast(348;0.00224)|all_lung(284;0.00351)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646) UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(227;1.15e-05)|BRCA - Breast invasive adenocarcinoma(304;4.2e-05)|Kidney(64;0.000183)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.0122)|READ - Rectum adenocarcinoma(331;0.0651) TCCCGAGGCTCTGTGTCCCTG 0.657 NA 24 63 0 0 0 0 NBPF1 55672 broad.mit.edu 37 1 16914293 16914293 + Splice_Site SNP C C A TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr1:16914293C>A uc009vos.1 - 10 1382 c.494_splice c.e10-1 p.E165_splice NBPF1_uc009vot.1_5'Flank|NBPF1_uc001ayz.1_5'Flank|NBPF1_uc010oce.1_Intron NM_017940 NP_060410 Q3BBV0 NBPF1_HUMAN hypothetical protein LOC55672 cytoplasm 0 UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179) TCGTCATTTTCTGTAAATACA 0.428 NA 31 495 1.66e-12 2.26e-12 1 0 KLHDC7A 127707 broad.mit.edu 37 1 18809211 18809211 + Missense_Mutation SNP G G T TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr1:18809211G>T uc001bax.2 + 1 1788 c.1736G>T c.(1735-1737)CGG>CTG p.R579L KLHDC7A_uc009vpg.2_Missense_Mutation_p.R361L NM_152375 NP_689588 Q5VTJ3 KLD7A_HUMAN kelch domain containing 7A 579 Kelch 3. integral to membrane ovary(2)|upper_aerodigestive_tract(1) 3 Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) AACCAGGCCCGGCCGCACTGC 0.711 NA 9 21 7.48e-07 9.15e-07 1 0 AIM1L 55057 broad.mit.edu 37 1 26648778 26648778 + Missense_Mutation SNP G G A TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr1:26648778G>A uc001bmd.3 - 18 2069 c.1639C>T c.(1639-1641)CCT>TCT p.P547S NM_001039775 NP_001034864 Q8N1P7 AIM1L_HUMAN absent in melanoma 1-like 547 Ricin B-type lectin. sugar binding pancreas(1) 1 all_cancers(24;4.67e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.51e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000792)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.00858)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.165)|LUSC - Lung squamous cell carcinoma(448;0.239) CCTGGGCTAGGGGGTCCAATC 0.617 NA 24 65 0 0 0 0 KIAA1522 57648 broad.mit.edu 37 1 33237601 33237601 + Missense_Mutation SNP C C G TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr1:33237601C>G uc001bvv.2 + 6 2780 c.2644C>G c.(2644-2646)CTG>GTG p.L882V KIAA1522_uc001bvu.1_Missense_Mutation_p.L941V|KIAA1522_uc010ohm.1_Missense_Mutation_p.L893V|KIAA1522_uc010ohn.1_Intron NM_020888 NP_065939 Q9P206 K1522_HUMAN hypothetical protein LOC57648 882 Pro-rich. 0 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244) GGCCTGCAGCCTGGCCGCCAG 0.682 NA 4 36 0 0 0 0 C1orf94 84970 broad.mit.edu 37 1 34666433 34666433 + Missense_Mutation SNP G G T TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr1:34666433G>T uc001bxs.3 + 3 899 c.500G>T c.(499-501)TGG>TTG p.W167L C1orf94_uc001bxt.2_Missense_Mutation_p.W357L NM_032884 NP_116273 Q6P1W5 CA094_HUMAN hypothetical protein LOC84970 isoform b 167 protein binding 0 Myeloproliferative disorder(586;0.0393) CTCAGCCAGTGGCCCCAGAGC 0.587 NA 38 65 3.09e-21 4.53e-21 1 0 EIF2C4 192670 broad.mit.edu 37 1 36298098 36298098 + Missense_Mutation SNP G G T TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr1:36298098G>T uc001bzj.1 + 11 1496 c.1306G>T c.(1306-1308)GCT>TCT p.A436S NM_017629 NP_060099 Q9HCK5 AGO4_HUMAN eukaryotic translation initiation factor 2C, 4 436 mRNA catabolic process|negative regulation of translation involved in gene silencing by miRNA cytoplasmic mRNA processing body|cytosol protein binding|RNA binding ovary(1) 1 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) GCAGTTTTATGCTGGCATTGA 0.333 NA 23 55 1.5e-11 2.02e-11 1 0 PTCH2 8643 broad.mit.edu 37 1 45294273 45294273 + Missense_Mutation SNP C C G TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr1:45294273C>G uc010olf.1 - 12 1507 c.1495G>C c.(1495-1497)GGC>CGC p.G499R PTCH2_uc010olg.1_Missense_Mutation_p.G197R NM_003738 NP_003729 Q9Y6C5 PTC2_HUMAN patched 2 499 SSD.|Cytoplasmic (Potential). protein complex assembly|spermatogenesis integral to plasma membrane hedgehog receptor activity lung(6)|breast(6)|central_nervous_system(3)|skin(2)|ovary(1) 18 Acute lymphoblastic leukemia(166;0.155) ACACTGGTGCCCGTGCGCTGC 0.632 NA Basal_Cell_Nevus_syndrome 5 14 0 0 0 0 RAD54L 8438 broad.mit.edu 37 1 46726971 46726971 + Missense_Mutation SNP C C A TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr1:46726971C>A uc009vye.2 + 9 919 c.805C>A c.(805-807)CCC>ACC p.P269T RAD54L_uc001cpl.2_Missense_Mutation_p.P269T|RAD54L_uc001cpm.1_Missense_Mutation_p.P89T NM_001142548 NP_001136020 Q92698 RAD54_HUMAN RAD54-like protein 269 Helicase ATP-binding. meiosis nucleus ATP binding|DNA binding|helicase activity ovary(2)|skin(1) 3 Acute lymphoblastic leukemia(166;0.155) Breast(1374;0.0634) KIRC - Kidney renal clear cell carcinoma(1967;0.000896) GGTGTCTTCTCCCATCCTCAT 0.423 NA Direct_reversal_of_damage|Homologous_recombination 20 44 0.00152264 0.00168448 1 0 USP24 23358 broad.mit.edu 37 1 55545229 55545229 + Silent SNP C C A TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr1:55545229C>A uc001cyg.3 - 57 6702 c.6702G>T c.(6700-6702)GGG>GGT p.G2234G NM_015306 NP_056121 Q9UPU5 UBP24_HUMAN ubiquitin specific protease 24 2394 ubiquitin-dependent protein catabolic process binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity ovary(6)|kidney(6)|breast(1) 13 GGTAAGGTTTCCCTTCAGACA 0.433 NA 31 113 7.11e-15 9.95e-15 1 0 C8B 732 broad.mit.edu 37 1 57420405 57420405 + Nonsense_Mutation SNP G G A TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr1:57420405G>A uc001cyp.2 - 4 554 c.487C>T c.(487-489)CAG>TAG p.Q163* C8B_uc010oon.1_Nonsense_Mutation_p.Q101*|C8B_uc010ooo.1_Nonsense_Mutation_p.Q111* NM_000066 NP_000057 P07358 CO8B_HUMAN complement component 8, beta polypeptide 163 MACPF. complement activation, alternative pathway|complement activation, classical pathway|cytolysis membrane attack complex central_nervous_system(2)|large_intestine(1)|ovary(1) 4 ATTTCATGCTGACATTTTTTA 0.443 NA 25 72 0 0 0 0 RAVER2 55225 broad.mit.edu 37 1 65278490 65278490 + Missense_Mutation SNP T T C TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr1:65278490T>C uc001dbs.1 + 10 1789 c.1711T>C c.(1711-1713)TAC>CAC p.Y571H RAVER2_uc001dbt.1_Missense_Mutation_p.Y463H|RAVER2_uc010opb.1_Missense_Mutation_p.Y296H NM_018211 NP_060681 Q9HCJ3 RAVR2_HUMAN ribonucleoprotein, PTB-binding 2 584 cytoplasm|nucleus nucleotide binding|RNA binding large_intestine(1) 1 TAAAAATCCATACTTGAATTT 0.383 NA 8 33 0 0 0 0 WLS 79971 broad.mit.edu 37 1 68613868 68613868 + Missense_Mutation SNP G G A TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr1:68613868G>A uc001def.1 - 8 1356 c.1085C>T c.(1084-1086)ACG>ATG p.T362M uc001deb.1_Intron|uc001dec.1_Intron|WLS_uc001dee.2_Missense_Mutation_p.T360M|WLS_uc001deg.1_Missense_Mutation_p.T271M|WLS_uc009wbf.1_Missense_Mutation_p.T317M NM_024911 NP_079187 Q5T9L3 WLS_HUMAN G protein-coupled receptor 177 isoform 1 362 Lumenal (Potential). multicellular organismal development|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|Wnt receptor signaling pathway cytoplasmic vesicle membrane|Golgi membrane|integral to membrane signal transducer activity 0 GAAGGGATTCGTGAGTTGTAC 0.443 NA 21 75 0 0 0 0 C1orf173 127254 broad.mit.edu 37 1 75072489 75072489 + Missense_Mutation SNP C C A TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr1:75072489C>A uc001dgg.2 - 10 1504 c.1285G>T c.(1285-1287)GGG>TGG p.G429W uc001dgh.2_Intron|C1orf173_uc001dgi.3_Missense_Mutation_p.G223W NM_001002912 NP_001002912 Q5RHP9 CA173_HUMAN hypothetical protein LOC127254 429 Glu-rich. ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1) 5 CTCACTTTCCCCTCAGCCTTC 0.403 NA 44 107 2.25e-16 3.21e-16 1 0 MSH4 4438 broad.mit.edu 37 1 76343943 76343943 + Missense_Mutation SNP A A G rs116549128 byFrequency TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr1:76343943A>G uc001dhd.1 + 11 1521 c.1480A>G c.(1480-1482)ATA>GTA p.I494V NM_002440 NP_002431 O15457 MSH4_HUMAN mutS homolog 4 494 chiasma assembly|homologous chromosome segregation|mismatch repair|reciprocal meiotic recombination synaptonemal complex ATP binding|DNA-dependent ATPase activity|mismatched DNA binding lung(3)|ovary(2) 5 GAGGTCTAACATAAATGAATT 0.318 NA MMR 11 24 0 0 0 0 ST6GALNAC3 256435 broad.mit.edu 37 1 76877998 76877998 + Silent SNP G G A TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr1:76877998G>A uc001dhh.2 + 3 682 c.519G>A c.(517-519)TTG>TTA p.L173L ST6GALNAC3_uc001dhg.3_Silent_p.L173L|ST6GALNAC3_uc010orh.1_Silent_p.L108L NM_152996 NP_694541 Q8NDV1 SIA7C_HUMAN sialyltransferase 7C isoform 1 173 Lumenal (Potential). protein glycosylation integral to Golgi membrane sialyltransferase activity ovary(3)|skin(2) 5 ACAACATGTTGAAAAAGACAG 0.393 NA 19 68 0 0 0 0 AK5 26289 broad.mit.edu 37 1 77763626 77763626 + Silent SNP G G A TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr1:77763626G>A uc001dhn.2 + 5 950 c.693G>A c.(691-693)GAG>GAA p.E231E AK5_uc001dho.2_Silent_p.E205E|AK5_uc001dhm.1_Silent_p.E207E NM_174858 NP_777283 Q9Y6K8 KAD5_HUMAN adenylate kinase 5 isoform 1 231 ADP biosynthetic process|ATP metabolic process|dADP biosynthetic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine ribonucleotide biosynthetic process|signal transduction centrosome|cytosol adenylate kinase activity|ATP binding|cAMP-dependent protein kinase regulator activity|nucleoside kinase activity skin(1) 1 TATCTTTTGAGGACCAAGTAA 0.333 NA 7 28 0 0 0 0 HFM1 164045 broad.mit.edu 37 1 91846506 91846506 + Missense_Mutation SNP G G T TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr1:91846506G>T uc001doa.3 - 7 936 c.836C>A c.(835-837)CCA>CAA p.P279Q HFM1_uc010osu.1_Intron|HFM1_uc010osv.1_Intron|HFM1_uc001doc.1_Missense_Mutation_p.P279Q NM_001017975 NP_001017975 A2PYH4 HFM1_HUMAN HFM1 protein 279 ATP binding|ATP-dependent helicase activity|nucleic acid binding 0 all_lung(203;0.00961)|Lung NSC(277;0.0351) all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171) GTTGAAATATGGAAATTCTTT 0.179 NA 7 41 2.18e-05 2.55e-05 1 0 STXBP3 6814 broad.mit.edu 37 1 109315300 109315300 + Missense_Mutation SNP A A G TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr1:109315300A>G uc001dvy.2 + 7 527 c.452A>G c.(451-453)GAT>GGT p.D151G STXBP3_uc001dvz.2_RNA NM_007269 NP_009200 O00186 STXB3_HUMAN syntaxin binding protein 3 151 Mediates interaction with DOC2B (By similarity). negative regulation of calcium ion-dependent exocytosis|neutrophil degranulation|platelet aggregation|protein transport|vesicle docking involved in exocytosis cytosol|nucleus|platelet alpha granule|specific granule|tertiary granule syntaxin-2 binding ovary(3)|central_nervous_system(1) 4 all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508) Colorectal(144;0.0386)|Lung(183;0.104)|COAD - Colon adenocarcinoma(174;0.137)|Epithelial(280;0.231) TATACTCTTGATGTACCAGAT 0.308 NA 11 25 0 0 0 0 KCNA10 3744 broad.mit.edu 37 1 111060380 111060380 + Missense_Mutation SNP G G A TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr1:111060380G>A uc001dzt.1 - 1 1418 c.1030C>T c.(1030-1032)CGC>TGC p.R344C NM_005549 NP_005540 Q16322 KCA10_HUMAN potassium voltage-gated channel, shaker-related 344 Helical; Voltage-sensor; Name=Segment S4; (Potential). voltage-gated potassium channel complex intracellular cyclic nucleotide activated cation channel activity|voltage-gated potassium channel activity ovary(3)|large_intestine(1) 4 all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301) Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134) CTCACCAGGCGGATGATCCTC 0.577 NA 45 120 0 0 0 0 KCNA3 3738 broad.mit.edu 37 1 111216792 111216792 + Missense_Mutation SNP G G A rs145190352 byFrequency TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr1:111216792G>A uc001dzv.1 - 1 864 c.640C>T c.(640-642)CGC>TGC p.R214C NM_002232 NP_002223 P22001 KCNA3_HUMAN potassium voltage-gated channel, shaker-related 214 voltage-gated potassium channel complex delayed rectifier potassium channel activity ovary(4)|pancreas(1) 5 all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398) Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133) TGGAAGTCGCGGCGGGGCAAG 0.687 NA 31 71 0 0 0 0 PTPN22 26191 broad.mit.edu 37 1 114397155 114397155 + Missense_Mutation SNP C C T TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr1:114397155C>T uc001eds.2 - 9 818 c.688G>A c.(688-690)GGC>AGC p.G230S uc001edv.1_5'Flank|PTPN22_uc009wgq.2_Missense_Mutation_p.G230S|PTPN22_uc010owo.1_5'UTR|PTPN22_uc001edt.2_Intron|PTPN22_uc009wgr.2_Missense_Mutation_p.G230S|PTPN22_uc009wgs.2_Intron|PTPN22_uc001edu.2_Missense_Mutation_p.G230S NM_015967 NP_057051 Q9Y2R2 PTN22_HUMAN protein tyrosine phosphatase, non-receptor type 230 Substrate binding.|Tyrosine-protein phosphatase. negative regulation of T cell activation|negative regulation of T cell receptor signaling pathway|phosphoanandamide dephosphorylation|regulation of B cell receptor signaling pathway|regulation of natural killer cell proliferation|T cell differentiation internal side of plasma membrane|nucleus|perinuclear region of cytoplasm kinase binding|protein tyrosine phosphatase activity|SH3 domain binding kidney(2)|lung(1)|skin(1) 4 Lung SC(450;0.184) all_cancers(81;1.93e-08)|all_epithelial(167;4.37e-08)|all_lung(203;5.22e-06)|Lung NSC(69;8.94e-06) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) CTTCCACAGCCAGCACTGAAA 0.418 NA 6 29 0 0 0 0 PTGFRN 5738 broad.mit.edu 37 1 117487467 117487467 + Silent SNP C C T TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr1:117487467C>T uc001egv.1 + 3 722 c.585C>T c.(583-585)AGC>AGT p.S195S NM_020440 NP_065173 Q9P2B2 FPRP_HUMAN prostaglandin F2 receptor negative regulator 195 Ig-like C2-type 2.|Extracellular (Potential). endoplasmic reticulum membrane|Golgi apparatus|integral to membrane protein binding liver(1) 1 Lung SC(450;0.225) all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446) Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248) CCAGGCGGAGCGTCCTCGCCC 0.751 NA 4 11 0 0 0 0 CD101 9398 broad.mit.edu 37 1 117560848 117560848 + Silent SNP C C T TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr1:117560848C>T uc010oxb.1 + 6 1741 c.1683C>T c.(1681-1683)TCC>TCT p.S561S CD101_uc009whd.2_Silent_p.S561S|CD101_uc010oxc.1_Silent_p.S561S|CD101_uc010oxd.1_Silent_p.S499S NM_004258 NP_004249 Q93033 IGSF2_HUMAN immunoglobulin superfamily, member 2 precursor 561 Extracellular (Potential).|Ig-like C2-type 5. cell surface receptor linked signaling pathway integral to membrane|plasma membrane hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides skin(2)|upper_aerodigestive_tract(1)|ovary(1) 4 TTGACCTGTCCTGTGTCGTGA 0.478 NA 6 37 0 0 0 0 FAM46C 54855 broad.mit.edu 37 1 118165682 118165682 + Silent SNP C C T TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr1:118165682C>T uc001ehe.2 + 2 391 c.192C>T c.(190-192)ATC>ATT p.I64I NM_017709 NP_060179 Q5VWP2 FA46C_HUMAN hypothetical protein LOC54855 64 0 Lung SC(450;0.225) all_cancers(81;0.000101)|all_lung(203;3.4e-06)|all_epithelial(167;4.98e-06)|Lung NSC(69;2.33e-05) Lung(183;0.0576)|LUSC - Lung squamous cell carcinoma(189;0.192)|Colorectal(144;0.247) AGGCAGGCATCAAAGTGCACG 0.552 NA Multiple Myeloma(3;1.13e-06) 30 80 0 0 0 0 SPAG17 200162 broad.mit.edu 37 1 118624066 118624066 + Missense_Mutation SNP C C G TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr1:118624066C>G uc001ehk.2 - 14 2030 c.1962G>C c.(1960-1962)ATG>ATC p.M654I NM_206996 NP_996879 Q6Q759 SPG17_HUMAN sperm associated antigen 17 654 cilium|flagellar axoneme|microtubule upper_aerodigestive_tract(2)|ovary(2)|large_intestine(1)|skin(1) 6 Esophageal squamous(2;0.0106) all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01) Lung(183;0.0858) CTTGAGTATTCATTTTCATGA 0.408 NA 20 75 0 0 0 0 NBPF9 400818 broad.mit.edu 37 1 144220807 144220807 + Missense_Mutation SNP A A C TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr1:144220807A>C uc010oxr.1 + 19 2184 c.2180A>C c.(2179-2181)GAT>GCT p.D727A NBPF9_uc010oxn.1_Missense_Mutation_p.D598A|NBPF9_uc010oxo.1_Intron|NBPF9_uc010oxt.1_Missense_Mutation_p.D515A|NBPF9_uc001ekg.1_Missense_Mutation_p.D27A|NBPF9_uc001ekk.1_Missense_Mutation_p.D271A|NBPF10_uc009wir.2_Intron|NBPF9_uc010oyd.1_Missense_Mutation_p.D27A|uc010oxz.1_Missense_Mutation_p.D515A NM_001037675 NP_001032764 Q3BBV1 NBPFK_HUMAN hypothetical protein LOC400818 700 NBPF 5. cytoplasm 0 GAGCTGCTGGATGAGAAAGAG 0.483 NA 15 104 0 0 0 0 ACP6 51205 broad.mit.edu 37 1 147119326 147119326 + Missense_Mutation SNP C C G TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr1:147119326C>G uc001epr.2 - 10 1650 c.1186G>C c.(1186-1188)GAC>CAC p.D396H NM_016361 NP_057445 Q9NPH0 PPA6_HUMAN acid phosphatase 6, lysophosphatidic precursor 396 lipid metabolic process extracellular region|mitochondrion acid phosphatase activity|protein binding ovary(4) 4 all_hematologic(923;0.0276) AAGAACATGTCCAGCGGGCAG 0.502 NA 22 46 0 0 0 0 TTC24 164118 broad.mit.edu 37 1 156554971 156554971 + Silent SNP A A G TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr1:156554971A>G uc009wsc.1 + 6 704 c.564A>G c.(562-564)AAA>AAG p.K188K NM_001105669 NP_001099139 A2A3L6 TTC24_HUMAN tetratricopeptide repeat domain 24 468 binding pancreas(1) 1 all_hematologic(923;0.088)|Hepatocellular(266;0.158) AGAAGAAAAAAGAGGAGAGGT 0.562 NA 18 37 0 0 0 0 FCRL4 83417 broad.mit.edu 37 1 157555966 157555966 + Missense_Mutation SNP G G T rs150996859 TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr1:157555966G>T uc001fqw.2 - 6 1263 c.1127C>A c.(1126-1128)ACT>AAT p.T376N FCRL4_uc010phy.1_RNA NM_031282 NP_112572 Q96PJ5 FCRL4_HUMAN Fc receptor-like 4 precursor 376 Extracellular (Potential). integral to membrane|plasma membrane receptor activity ovary(2)|kidney(1)|skin(1) 4 all_hematologic(112;0.0378)|Hepatocellular(266;0.178) Prostate(1639;0.245) ACCTCTCACAGTGACATTCAG 0.388 NA 40 85 3.09e-21 4.53e-21 1 0 CD1D 912 broad.mit.edu 37 1 158151871 158151871 + Silent SNP C C T TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr1:158151871C>T uc001frr.2 + 4 877 c.378C>T c.(376-378)AAC>AAT p.N126N CD1D_uc009wsr.1_Silent_p.N126N|CD1D_uc009wss.2_Silent_p.N126N|CD1D_uc009wst.1_Silent_p.N22N NM_001766 NP_001757 P15813 CD1D_HUMAN CD1D antigen precursor 126 Extracellular (Potential). antigen processing and presentation, endogenous lipid antigen via MHC class Ib|detection of bacterium|innate immune response|interspecies interaction between organisms|positive regulation of innate immune response|T cell selection endosome membrane|integral to plasma membrane|lysosomal membrane beta-2-microglobulin binding|exogenous lipid antigen binding|histone binding ovary(1) 1 all_hematologic(112;0.0378) ACCCTGGGAACGCCTCAAATA 0.493 NA 55 169 0 0 0 0 SELE 6401 broad.mit.edu 37 1 169696913 169696913 + Nonsense_Mutation SNP C C A TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr1:169696913C>A uc001ggm.3 - 9 1592 c.1435G>T c.(1435-1437)GGA>TGA p.G479* C1orf112_uc001ggj.2_Intron NM_000450 NP_000441 P16581 LYAM2_HUMAN selectin E precursor 479 Extracellular (Potential).|Sushi 5. actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity ovary(3)|skin(2) 5 all_hematologic(923;0.208) GTCCATTGTCCCTGAGATGTG 0.428 NA 31 99 9.65e-13 1.32e-12 1 0 ASTN1 460 broad.mit.edu 37 1 176903411 176903411 + Missense_Mutation SNP C C A TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr1:176903411C>A uc001glc.2 - 16 2760 c.2548G>T c.(2548-2550)GAC>TAC p.D850Y ASTN1_uc001glb.1_Missense_Mutation_p.D850Y|ASTN1_uc001gld.1_Missense_Mutation_p.D850Y NM_004319 NP_004310 O14525 ASTN1_HUMAN astrotactin isoform 1 858 cell migration|neuron cell-cell adhesion integral to membrane ovary(6)|skin(5)|central_nervous_system(2)|large_intestine(1)|lung(1) 15 CCGAACTGGTCCAACAGCGCC 0.542 NA 26 52 7.34e-06 8.72e-06 1 0 TPR 7175 broad.mit.edu 37 1 186337063 186337063 + Missense_Mutation SNP T T C TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr1:186337063T>C uc001grv.2 - 4 679 c.382A>G c.(382-384)ATT>GTT p.I128V TPR_uc010pop.1_Missense_Mutation_p.I204V NM_003292 NP_003283 P12270 TPR_HUMAN nuclear pore complex-associated protein TPR 128 Potential. carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm ATP binding|protein binding|serine-tRNA ligase activity ovary(2)|lung(2)|urinary_tract(1)|central_nervous_system(1)|skin(1) 7 Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157) Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553) TTGGTTCTAATTAAGTCTCTT 0.323 NA T NTRK1 papillary thyroid 10 20 0 0 0 0 ASPM 259266 broad.mit.edu 37 1 197070947 197070947 + Silent SNP T T C TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr1:197070947T>C uc001gtu.2 - 18 7691 c.7434A>G c.(7432-7434)CAA>CAG p.Q2478Q ASPM_uc001gtv.2_Intron|ASPM_uc001gtw.3_Silent_p.Q326Q NM_018136 NP_060606 Q8IZT6 ASPM_HUMAN asp (abnormal spindle)-like, microcephaly 2478 IQ 26. mitosis cytoplasm|nucleus calmodulin binding ovary(4)|central_nervous_system(2) 6 TTTGCATTTCTTGTAACTTCT 0.363 NA 23 88 0 0 0 0 CRB1 23418 broad.mit.edu 37 1 197397023 197397023 + Missense_Mutation SNP A A T TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr1:197397023A>T uc001gtz.2 + 7 2703 c.2568A>T c.(2566-2568)AGA>AGT p.R856S CRB1_uc010poz.1_Missense_Mutation_p.R787S|CRB1_uc010ppa.1_RNA|CRB1_uc009wza.2_Missense_Mutation_p.R744S|CRB1_uc010ppb.1_Intron|CRB1_uc010ppc.1_RNA|CRB1_uc010ppd.1_Missense_Mutation_p.R337S|CRB1_uc001gub.1_Missense_Mutation_p.R505S NM_201253 NP_957705 P82279 CRUM1_HUMAN crumbs homolog 1 precursor 856 Extracellular (Potential).|Laminin G-like 2. 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 AAGATGTAAGACTAAACAACC 0.408 NA 9 20 0 0 0 0 LHX9 56956 broad.mit.edu 37 1 197896918 197896918 + Silent SNP T T C TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr1:197896918T>C uc001guk.1 + 4 1368 c.931T>C c.(931-933)TTG>CTG p.L311L LHX9_uc001gui.1_Silent_p.L302L|LHX9_uc001guj.1_Silent_p.L317L NM_020204 NP_064589 Q9NQ69 LHX9_HUMAN LIM homeobox 9 isoform 1 311 Homeobox. motor axon guidance|negative regulation of transcription, DNA-dependent nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding ovary(1) 1 CAAAAGAGTTTTGCAGGTAAG 0.483 NA 17 63 0 0 0 0 PRELP 5549 broad.mit.edu 37 1 203453274 203453274 + Missense_Mutation SNP A A G TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr1:203453274A>G uc001gzs.2 + 2 1162 c.962A>G c.(961-963)AAT>AGT p.N321S PRELP_uc001gzt.2_Missense_Mutation_p.N321S NM_002725 NP_002716 P51888 PRELP_HUMAN proline arginine-rich end leucine-rich repeat 321 LRR 10. skeletal system development proteinaceous extracellular matrix extracellular matrix structural constituent ovary(1)|central_nervous_system(1)|pancreas(1) 3 BRCA - Breast invasive adenocarcinoma(75;0.109) CTCAACAACAATAGCATCGAG 0.572 NA 15 36 0 0 0 0 REN 5972 broad.mit.edu 37 1 204130517 204130517 + Silent SNP G G A TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr1:204130517G>A uc001haq.2 - 3 320 c.276C>T c.(274-276)ATC>ATT p.I92I NM_000537 NP_000528 P00797 RENI_HUMAN renin preproprotein 92 angiotensin maturation|regulation of MAPKKK cascade extracellular space|membrane aspartic-type endopeptidase activity skin(3)|central_nervous_system(1) 4 all_cancers(21;0.00965)|Breast(84;0.116)|all_epithelial(62;0.157) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109) Aliskiren(DB01258)|Remikiren(DB00212) GTGGGGTGCCGATGCCAATCT 0.582 NA 6 24 0 0 0 0 KISS1 3814 broad.mit.edu 37 1 204159795 204159795 + Silent SNP G G T TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr1:204159795G>T uc001har.2 - 3 388 c.234C>A c.(232-234)TCC>TCA p.S78S NM_002256 NP_002247 Q15726 KISS1_HUMAN KiSS-1 metastasis-suppressor 78 cytoskeleton organization extracellular region protein binding ovary(1) 1 all_cancers(21;0.0165)|Breast(84;0.179)|all_epithelial(62;0.242) Breast(1374;9.42e-05) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.069)|Kidney(21;0.0934)|Epithelial(59;0.239) Colorectal(1306;0.0129) GGGGGCTCCCGGAGCTCTCGG 0.751 NA 5 13 1.02e-07 1.28e-07 1 0 KLHDC8A 55220 broad.mit.edu 37 1 205308834 205308834 + Missense_Mutation SNP G G A rs17853535 TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr1:205308834G>A uc001hcf.1 - 3 1047 c.479C>T c.(478-480)CCC>CTC p.P160L KLHDC8A_uc010prg.1_Missense_Mutation_p.P47L|KLHDC8A_uc001hcg.1_Missense_Mutation_p.P160L NM_018203 NP_060673 Q8IYD2 KLD8A_HUMAN kelch domain containing 8A 160 Kelch 4. P -> H (in Ref. 4; AAH36076). ovary(1) 1 Breast(84;0.23) BRCA - Breast invasive adenocarcinoma(75;0.117) GGTGGGCATGGGTGCTAGGGA 0.567 NA 12 50 0 0 0 0 PM20D1 148811 broad.mit.edu 37 1 205797807 205797807 + Missense_Mutation SNP C C G TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr1:205797807C>G uc001hdj.2 - 13 1495 c.1450G>C c.(1450-1452)GAG>CAG p.E484Q PM20D1_uc009xbr.2_RNA NM_152491 NP_689704 Q6GTS8 P20D1_HUMAN peptidase M20 domain containing 1 precursor 484 extracellular region metal ion binding|peptidase activity skin(1) 1 Breast(84;0.201) BRCA - Breast invasive adenocarcinoma(75;0.0252) TGAATCAACTCAAAGATGAAT 0.512 NA 23 41 0 0 0 0 PLXNA2 5362 broad.mit.edu 37 1 208224624 208224624 + Missense_Mutation SNP G G C TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr1:208224624G>C uc001hgz.2 - 16 3896 c.3138C>G c.(3136-3138)ATC>ATG p.I1046M NM_025179 NP_079455 O75051 PLXA2_HUMAN plexin A2 precursor 1046 Extracellular (Potential).|IPT/TIG 3. axon guidance integral to membrane|intracellular|plasma membrane ovary(2)|central_nervous_system(1) 3 OV - Ovarian serous cystadenocarcinoma(81;0.199) ACTCTGGCTCGATGCGCTGGA 0.592 NA 9 38 0 0 0 0 SERTAD4 56256 broad.mit.edu 37 1 210415652 210415652 + Silent SNP A A G TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr1:210415652A>G uc001hhy.2 + 4 1220 c.1041A>G c.(1039-1041)AAA>AAG p.K347K SERTAD4_uc009xcw.2_Silent_p.K347K NM_019605 NP_062551 Q9NUC0 SRTD4_HUMAN SERTA domain containing 4 347 protein binding ovary(1)|pancreas(1) 2 OV - Ovarian serous cystadenocarcinoma(81;0.0237)|all cancers(67;0.127) CAAGTAACAAACTGTGCTGCA 0.358 NA 10 34 0 0 0 0 USH2A 7399 broad.mit.edu 37 1 215990367 215990367 + Missense_Mutation SNP C C T TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr1:215990367C>T uc001hku.1 - 48 9929 c.9542G>A c.(9541-9543)GGA>GAA p.G3181E NM_206933 NP_996816 O75445 USH2A_HUMAN usherin isoform B 3181 Extracellular (Potential).|Fibronectin type-III 18. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1) 26 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) GCAAATGTGTCCACAGATAGA 0.388 NA HNSCC(13;0.011) 20 65 0 0 0 0 USH2A 7399 broad.mit.edu 37 1 216172316 216172316 + Missense_Mutation SNP C C A TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr1:216172316C>A uc001hku.1 - 34 6957 c.6570G>T c.(6568-6570)TGG>TGT p.W2190C NM_206933 NP_996816 O75445 USH2A_HUMAN usherin isoform B 2190 Extracellular (Potential).|Fibronectin type-III 8. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1) 26 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) AGATGACACTCCAAATTGTAA 0.338 NA HNSCC(13;0.011) 17 55 9.17e-09 1.18e-08 1 0 MIA3 375056 broad.mit.edu 37 1 222803552 222803552 + Missense_Mutation SNP G G C TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr1:222803552G>C uc001hnl.2 + 4 2999 c.2990G>C c.(2989-2991)CGT>CCT p.R997P MIA3_uc009xea.1_Missense_Mutation_p.R833P NM_198551 NP_940953 Q5JRA6 MIA3_HUMAN melanoma inhibitory activity family, member 3 997 Extracellular (Potential). exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing endoplasmic reticulum membrane|integral to membrane protein binding ovary(4)|central_nervous_system(1) 5 GBM - Glioblastoma multiforme(131;0.0199) CTTGATACTCGTGTGGCTGAA 0.408 NA 32 52 0 0 0 0 PRSS38 339501 broad.mit.edu 37 1 228033818 228033818 + Missense_Mutation SNP C C A TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr1:228033818C>A uc001hrh.2 + 5 890 c.890C>A c.(889-891)ACT>AAT p.T297N NM_183062 NP_898885 A1L453 PRS38_HUMAN marapsin 2 precursor 297 proteolysis extracellular region serine-type endopeptidase activity ovary(1)|pancreas(1) 2 ATCACGCCCACTCCTGCTCAG 0.562 NA 15 69 1.05e-09 1.38e-09 1 0 ACTN2 88 broad.mit.edu 37 1 236914832 236914832 + Missense_Mutation SNP G G T TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr1:236914832G>T uc001hyf.2 + 15 1923 c.1719G>T c.(1717-1719)CAG>CAT p.Q573H ACTN2_uc001hyg.2_Missense_Mutation_p.Q365H|ACTN2_uc009xgi.1_Missense_Mutation_p.Q573H|ACTN2_uc010pxu.1_Missense_Mutation_p.Q262H|ACTN2_uc001hyh.2_Missense_Mutation_p.Q261H NM_001103 NP_001094 P35609 ACTN2_HUMAN actinin, alpha 2 573 Spectrin 3. 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) GAGAGCGGCAGTCCATCATGG 0.547 NA 26 66 8.58e-18 1.24e-17 1 0 RYR2 6262 broad.mit.edu 37 1 237608741 237608741 + Missense_Mutation SNP G G A TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr1:237608741G>A uc001hyl.1 + 14 1331 c.1211G>A c.(1210-1212)AGT>AAT p.S404N NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 404 Cytoplasmic (By similarity).|MIR 5. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1) 33 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) GATGGCATAAGTTTGTCGAGA 0.413 NA 28 69 0 0 0 0 RYR2 6262 broad.mit.edu 37 1 237780711 237780711 + Silent SNP C C A TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr1:237780711C>A uc001hyl.1 + 38 5961 c.5841C>A c.(5839-5841)GTC>GTA p.V1947V NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 1947 Cytoplasmic (By similarity).|4 X approximate repeats. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1) 33 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) ACAACGAAGTCATGCAAGCCT 0.443 NA 16 40 5.01e-05 5.8e-05 1 0 RYR2 6262 broad.mit.edu 37 1 237791164 237791164 + Missense_Mutation SNP T T G TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr1:237791164T>G uc001hyl.1 + 41 6344 c.6224T>G c.(6223-6225)ATT>AGT p.I2075S NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 2075 Cytoplasmic (By similarity).|4 X approximate repeats. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1) 33 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) GAGTCTGTCATTGAAGACCCC 0.493 NA 5 25 0 0 0 0 RYR2 6262 broad.mit.edu 37 1 237951287 237951287 + Splice_Site SNP G G A TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr1:237951287G>A uc001hyl.1 + 92 13449 c.13329_splice c.e92-1 p.E4443_splice NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1) 33 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) TGTTTTCATAGGGGAGAAGAT 0.403 NA 5 6 0 0 0 0 ZP4 57829 broad.mit.edu 37 1 238046042 238046042 + Missense_Mutation SNP G G T TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr1:238046042G>T uc001hym.2 - 11 1495 c.1495C>A c.(1495-1497)CGT>AGT p.R499S LOC100130331_uc010pyc.1_Intron NM_021186 NP_067009 Q12836 ZP4_HUMAN zona pellucida glycoprotein 4 preproprotein 499 Extracellular (Potential). acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix acrosin binding|receptor activity ovary(2)|skin(1) 3 Ovarian(103;0.103) all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214) OV - Ovarian serous cystadenocarcinoma(106;0.00989) GGATACTTACGGAGCTTTTCT 0.403 NA 10 40 1.77e-08 2.25e-08 1 0 FMN2 56776 broad.mit.edu 37 1 240370893 240370893 + Silent SNP C C T TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr1:240370893C>T uc010pyd.1 + 5 3006 c.2781C>T c.(2779-2781)CCC>CCT p.P927P FMN2_uc010pye.1_Silent_p.P931P NM_020066 NP_064450 Q9NZ56 FMN2_HUMAN formin 2 927 Pro-rich.|FH1. actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions actin binding ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1) 12 Ovarian(103;0.127) all_cancers(173;0.013) OV - Ovarian serous cystadenocarcinoma(106;0.0106) CGCCTCTACCCGGAGCAGGCA 0.682 NA 29 103 0 0 0 0 FMN2 56776 broad.mit.edu 37 1 240371006 240371006 + Missense_Mutation SNP C C A TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr1:240371006C>A uc010pyd.1 + 5 3119 c.2894C>A c.(2893-2895)CCC>CAC p.P965H FMN2_uc010pye.1_Missense_Mutation_p.P969H NM_020066 NP_064450 Q9NZ56 FMN2_HUMAN formin 2 965 Pro-rich.|FH1. actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions actin binding ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1) 12 Ovarian(103;0.127) all_cancers(173;0.013) OV - Ovarian serous cystadenocarcinoma(106;0.0106) GCAGGCATACCCCTTCCTCCC 0.701 NA 21 28 0.000229342 0.000261357 1 0 FH 2271 broad.mit.edu 37 1 241669303 241669303 + Missense_Mutation SNP C C A TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr1:241669303C>A uc001hyx.2 - 6 936 c.904G>T c.(904-906)GGC>TGC p.G302C NM_000143 NP_000134 P07954 FUMH_HUMAN fumarate hydratase precursor 302 fumarate metabolic process|tricarboxylic acid cycle cell junction|mitochondrial matrix|tricarboxylic acid cycle enzyme complex fumarate hydratase activity lung(3)|ovary(1)|skin(1) 5 Ovarian(103;0.103) all_cancers(173;2.37e-314)|all_epithelial(177;5.17e-286)|Breast(1374;1.06e-10)|Acute lymphoblastic leukemia(190;4.93e-10)|all_neural(198;0.00118) OV - Ovarian serous cystadenocarcinoma(106;0.0214) Colorectal(1306;2.33e-53)|COAD - Colon adenocarcinoma(196;1.05e-44)|KIRC - Kidney renal clear cell carcinoma(1967;0.000109) GATCACTAACCTGTAAGTGCA 0.388 NA Mis|N|F lieomyomatosis|renal Hereditary_Leiomyomatosis_and_Renal_Cell_Cancer 15 31 2.32e-05 2.7e-05 1 0 KIF26B 55083 broad.mit.edu 37 1 245865828 245865828 + Missense_Mutation SNP C C A TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr1:245865828C>A uc001ibf.1 + 15 6687 c.6247C>A c.(6247-6249)CGC>AGC p.R2083S NM_018012 NP_060482 Q2KJY2 KI26B_HUMAN kinesin family member 26B 2083 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity ovary(3) 3 all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127) OV - Ovarian serous cystadenocarcinoma(106;0.022) TGTGACGGAGCGCCTGGAGAG 0.577 NA 22 65 1.97e-08 2.51e-08 1 0 OR2L8 391190 broad.mit.edu 37 1 248112456 248112456 + Missense_Mutation SNP G G T TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr1:248112456G>T uc001idt.1 + 1 297 c.297G>T c.(295-297)CAG>CAT p.Q99H OR2L13_uc001ids.2_Intron NM_001001963 NP_001001963 Q8NGY9 OR2L8_HUMAN olfactory receptor, family 2, subfamily L, 99 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 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) OV - Ovarian serous cystadenocarcinoma(106;0.0152) GTGGGATTCAGAGTTTCTTCT 0.428 NA 77 212 2.66e-34 4.01e-34 1 0 OLAH 55301 broad.mit.edu 37 10 15113820 15113820 + Missense_Mutation SNP T T A TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr10:15113820T>A uc001inu.2 + 7 853 c.599T>A c.(598-600)CTT>CAT p.L200H ACBD7_uc010qby.1_Intron|OLAH_uc001int.2_Missense_Mutation_p.L253H NM_001039702 NP_001034791 Q9NV23 SAST_HUMAN oleoyl-ACP hydrolase isoform 2 200 fatty acid biosynthetic process myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity 0 AAGGCTGTTCTTTCCTGTGAC 0.343 NA 21 67 0 0 0 0 CUBN 8029 broad.mit.edu 37 10 17127685 17127685 + Missense_Mutation SNP T T A TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr10:17127685T>A uc001ioo.2 - 16 2073 c.2021A>T c.(2020-2022)CAG>CTG p.Q674L NM_001081 NP_001072 O60494 CUBN_HUMAN cubilin precursor 674 CUB 2. cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1) 19 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) GCCAGTAGTCTGGAGCGGTGG 0.458 NA 26 84 0 0 0 0 PTCHD3 374308 broad.mit.edu 37 10 27687958 27687958 + Silent SNP C C A TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr10:27687958C>A uc001itu.2 - 4 1687 c.1569G>T c.(1567-1569)CTG>CTT p.L523L NM_001034842 NP_001030014 Q3KNS1 PTHD3_HUMAN patched domain containing 3 523 SSD.|Helical; (Potential). spermatid development integral to membrane hedgehog receptor activity ovary(2)|pancreas(1)|skin(1) 4 AGCAAAATAACAGGGTCATTC 0.388 NA 18 69 0.000958276 0.0010696 1 0 PTCHD3 374308 broad.mit.edu 37 10 27702471 27702471 + Nonsense_Mutation SNP G G A TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr10:27702471G>A uc001itu.2 - 1 827 c.709C>T c.(709-711)CAG>TAG p.Q237* NM_001034842 NP_001030014 Q3KNS1 PTHD3_HUMAN patched domain containing 3 237 spermatid development integral to membrane hedgehog receptor activity ovary(2)|pancreas(1)|skin(1) 4 CGCAGATCCTGCACCGCGCCG 0.617 NA 6 53 0 0 0 0 RBP3 5949 broad.mit.edu 37 10 48389293 48389293 + Missense_Mutation SNP G G C TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr10:48389293G>C uc001jez.2 - 1 1699 c.1585C>G c.(1585-1587)CCA>GCA p.P529A NM_002900 NP_002891 P10745 RET3_HUMAN retinol-binding protein 3 precursor 529 4 X approximate tandem repeats.|2. lipid metabolic process|proteolysis|transport|visual perception interphotoreceptor matrix retinal binding|serine-type peptidase activity large_intestine(1)|central_nervous_system(1) 2 Vitamin A(DB00162) CTGTAGCGTGGGCCCGGGAGC 0.667 NA 13 67 0 0 0 0 C10orf72 196740 broad.mit.edu 37 10 50315862 50315863 + Missense_Mutation DNP CA CA AT TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr10:50315862_50315863CA>AT uc001jhf.2 - 2 262_263 c.233_234TG>AT c.(232-234)ATG>AAT p.M78N C10orf72_uc001jhh.2_Missense_Mutation_p.M78N NM_001031746 NP_001026916 Q8IW00 CJ072_HUMAN hypothetical protein LOC196740 isoform 1 78 Ig-like.|Extracellular (Potential). integral to membrane|plasma membrane 0 GGAGCTTGGTCATCTTCACCAT 0.629 NA 7 48 0 0 0 0 CHAT 1103 broad.mit.edu 37 10 50870701 50870701 + Missense_Mutation SNP G G A TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr10:50870701G>A uc001jhz.2 + 14 2003 c.1850G>A c.(1849-1851)GGG>GAG p.G617E CHAT_uc001jhv.1_Missense_Mutation_p.G499E|CHAT_uc001jhx.1_Missense_Mutation_p.G499E|CHAT_uc001jhy.1_Missense_Mutation_p.G499E|CHAT_uc001jia.2_Missense_Mutation_p.G499E|CHAT_uc010qgs.1_Missense_Mutation_p.G499E NM_020549 NP_065574 P28329 CLAT_HUMAN choline acetyltransferase isoform 2 617 neurotransmitter biosynthetic process|neurotransmitter secretion cytosol|nucleus choline O-acetyltransferase activity central_nervous_system(3) 3 all_neural(218;0.107) GBM - Glioblastoma multiforme(2;0.000585) Choline(DB00122) GCCATAACAGGGATGGCCATT 0.572 NA 36 84 0 0 0 0 C10orf53 282966 broad.mit.edu 37 10 50916545 50916545 + Missense_Mutation SNP T T A TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr10:50916545T>A uc001jid.1 + 3 416 c.356T>A c.(355-357)GTA>GAA p.V119E NM_182554 NP_872360 Q8N6V4 CJ053_HUMAN chromosome 10 open reading frame 53 isoform a Error:Variant_position_missing_in_Q8N6V4_after_alignment 0 all_neural(218;0.107) acttgtactgtattggcccag 0 NA 61 165 0 0 0 0 OGDHL 55753 broad.mit.edu 37 10 50964873 50964873 + Missense_Mutation SNP G G T TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr10:50964873G>T uc001jie.2 - 3 466 c.324C>A c.(322-324)AGC>AGA p.S108R OGDHL_uc009xog.2_Missense_Mutation_p.S135R|OGDHL_uc010qgt.1_Intron|OGDHL_uc010qgu.1_Intron|OGDHL_uc009xoh.2_5'UTR NM_018245 NP_060715 Q9ULD0 OGDHL_HUMAN oxoglutarate dehydrogenase-like isoform a 108 glycolysis mitochondrial matrix oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding pancreas(1) 1 CCACCAATTTGCTGGTCTTGG 0.632 NA 28 46 3.65e-15 5.12e-15 1 0 AGAP6 414189 broad.mit.edu 37 10 51768720 51768720 + Missense_Mutation SNP G G A TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr10:51768720G>A uc001jix.3 + 8 1233 c.835G>A c.(835-837)GGT>AGT p.G279S NM_001077665 NP_001071133 Q5VW22 AGAP6_HUMAN ArfGAP with GTPase domain, ankyrin repeat and PH 279 regulation of ARF GTPase activity ARF GTPase activator activity|zinc ion binding skin(1) 1 CATCGGGAGCGGTAGAGCCAT 0.512 NA 71 339 0 0 0 0 SUPV3L1 6832 broad.mit.edu 37 10 70962202 70962202 + Missense_Mutation SNP G G A TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr10:70962202G>A uc001jpe.1 + 12 1581 c.1526G>A c.(1525-1527)GGT>GAT p.G509D SUPV3L1_uc010qjd.1_Missense_Mutation_p.G378D NM_003171 NP_003162 Q8IYB8 SUV3_HUMAN suppressor of var1, 3-like 1 precursor 509 Helicase C-terminal. DNA duplex unwinding mitochondrial nucleoid|nucleus ATP binding|DNA binding|DNA helicase activity|RNA binding urinary_tract(1)|ovary(1) 2 AAGGCAGCTGGTCTTCATCCA 0.363 NA 31 59 0 0 0 0 SFTPA1 653509 broad.mit.edu 37 10 81372067 81372067 + Splice_Site SNP G G T TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr10:81372067G>T uc001kap.2 + 4 294 c.173_splice c.e4-1 p.G58_splice SFTPA1_uc001kaq.2_Splice_Site_p.G58_splice|SFTPA1_uc009xry.2_Splice_Site_p.G73_splice|SFTPA1_uc001kar.2_Splice_Site_p.G58_splice|SFTPA1_uc010qlt.1_Splice_Site|SFTPA1_uc009xrz.2_Intron|SFTPA1_uc009xsa.2_Splice_Site_p.G58_splice|SFTPA1_uc009xsf.2_5'Flank NM_005411 NP_005402 Q8IWL2 SFTA1_HUMAN surfactant protein A1 isoform 1 cell junction assembly|respiratory gaseous exchange collagen|extracellular space lipid transporter activity|sugar binding 0 all_cancers(46;0.197)|Breast(12;0.000326)|Prostate(51;0.00985)|all_epithelial(25;0.0149) Epithelial(14;0.00957)|all cancers(16;0.0179)|Colorectal(32;0.229) TTTCTCTGCAGGCCCCATGGG 0.567 NA 100 264 7.59e-44 1.15e-43 1 0 MINPP1 9562 broad.mit.edu 37 10 89264702 89264702 + Silent SNP G G T TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr10:89264702G>T uc001keu.2 + 1 480 c.30G>T c.(28-30)CGG>CGT p.R10R MINPP1_uc009xtf.1_RNA|MINPP1_uc001kev.2_Silent_p.R10R NM_004897 NP_004888 Q9UNW1 MINP1_HUMAN multiple inositol polyphosphate histidine 10 bone mineralization|polyphosphate metabolic process endoplasmic reticulum lumen acid phosphatase activity|bisphosphoglycerate 3-phosphatase activity|multiple inositol-polyphosphate phosphatase activity|phosphohistidine phosphatase activity urinary_tract(1) 1 Colorectal(252;0.122) UCEC - Uterine corpus endometrioid carcinoma (6;0.00123) GCCTCCTCCGGACCTCCGTAG 0.731 NA 6 23 0.00116845 0.00129608 1 0 FAS 355 broad.mit.edu 37 10 90768682 90768682 + Missense_Mutation SNP A A G TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr10:90768682A>G uc001kfr.2 + 4 717 c.371A>G c.(370-372)AAT>AGT p.N124S FAS_uc010qna.1_RNA|FAS_uc001kfs.2_Missense_Mutation_p.N124S|FAS_uc001kft.2_Missense_Mutation_p.N124S|FAS_uc010qnb.1_Intron|FAS_uc010qnc.1_Intron|FAS_uc001kfw.2_Intron|FAS_uc010qnd.1_Intron|FAS_uc010qne.1_Intron|FAS_uc009xtp.2_RNA NM_000043 NP_000034 P25445 TNR6_HUMAN tumor necrosis factor receptor superfamily, 124 Extracellular (Potential).|TNFR-Cys 2. activation of caspase activity|activation of pro-apoptotic gene products|anti-apoptosis|cellular response to mechanical stimulus|positive regulation of necrotic cell death cytosol|extracellular region|integral to membrane|soluble fraction identical protein binding|kinase binding upper_aerodigestive_tract(1)|breast(1) 2 Colorectal(252;0.0161) Colorectal(12;0.000136)|COAD - Colon adenocarcinoma(12;0.000193) CGGACCCAGAATACCAAGTGC 0.363 NA Autoimmune_Lymphoproliferative_syndrome_type_I 136 359 0 0 0 0 LOXL4 84171 broad.mit.edu 37 10 100012126 100012126 + Silent SNP G G A TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr10:100012126G>A uc001kpa.1 - 12 2086 c.1935C>T c.(1933-1935)GAC>GAT p.D645D NM_032211 NP_115587 Q96JB6 LOXL4_HUMAN lysyl oxidase-like 4 precursor 645 Lysyl-oxidase like. extracellular space|membrane copper ion binding|protein binding|scavenger receptor activity ovary(3)|breast(1)|skin(1) 5 Colorectal(252;0.234) Epithelial(162;2.14e-11)|all cancers(201;2.49e-09) GGCAGTTTGTGTCCTCCAGAC 0.537 NA 47 111 0 0 0 0 FAM178A 55719 broad.mit.edu 37 10 102684054 102684054 + Silent SNP G G A TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr10:102684054G>A uc001krt.3 + 5 1838 c.1296G>A c.(1294-1296)AAG>AAA p.K432K FAM178A_uc001krr.1_Silent_p.K432K|FAM178A_uc001krs.2_Silent_p.K432K|FAM178A_uc001kru.1_Silent_p.K367K NM_018121 NP_060591 Q8IX21 F178A_HUMAN hypothetical protein LOC55719 isoform 1 432 0 CAGGTACCAAGGAGACTAAGA 0.443 NA 50 139 0 0 0 0 C10orf79 80217 broad.mit.edu 37 10 105948147 105948147 + Missense_Mutation SNP T T C TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr10:105948147T>C uc001kxw.2 - 13 1684 c.1568A>G c.(1567-1569)CAG>CGG p.Q523R C10orf79_uc009xxq.2_5'Flank|C10orf79_uc001kxx.3_Missense_Mutation_p.Q524R NM_025145 NP_079421 Q8NDM7 WDR96_HUMAN hypothetical protein LOC80217 523 0 Colorectal(252;0.178) Epithelial(162;4.83e-10)|all cancers(201;2.26e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0194) TGTGGATATCTGTAAAATGTC 0.408 NA 19 44 0 0 0 0 NRAP 4892 broad.mit.edu 37 10 115381802 115381802 + Missense_Mutation SNP C C A TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr10:115381802C>A uc001laj.2 - 24 2759 c.2595G>T c.(2593-2595)GAG>GAT p.E865D NRAP_uc009xyb.2_Intron|NRAP_uc001lak.2_Missense_Mutation_p.E830D|NRAP_uc001lal.3_Missense_Mutation_p.E865D NM_198060 NP_932326 Q86VF7 NRAP_HUMAN nebulin-related anchoring protein isoform S 865 Nebulin 21. fascia adherens|muscle tendon junction actin binding|muscle alpha-actinin binding|zinc ion binding ovary(6)|central_nervous_system(3)|upper_aerodigestive_tract(1) 10 Colorectal(252;0.0233)|Breast(234;0.188) Epithelial(162;0.00392)|all cancers(201;0.00569) ATTTGGTGTCCTCGAATCCCT 0.532 NA 35 66 4.63e-21 6.77e-21 1 0 ATRNL1 26033 broad.mit.edu 37 10 116975564 116975564 + Silent SNP G G A TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr10:116975564G>A uc001lcg.2 + 9 1844 c.1458G>A c.(1456-1458)GGG>GGA p.G486G NM_207303 NP_997186 Q5VV63 ATRN1_HUMAN attractin-like 1 precursor 486 Kelch 4.|Extracellular (Potential). integral to membrane sugar binding ovary(5)|lung(1)|central_nervous_system(1) 7 all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234) Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827) TTCATGGAGGGTATAAAGCAT 0.353 NA 10 24 0 0 0 0 FAM24A 118670 broad.mit.edu 37 10 124672281 124672281 + Silent SNP T T A TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr10:124672281T>A uc001lgv.2 + 3 250 c.129T>A c.(127-129)GCT>GCA p.A43A NM_001029888 NP_001025059 A6NFZ4 FA24A_HUMAN family with sequence similarity 24, member A 43 extracellular region ovary(2) 2 all_neural(114;0.169)|Glioma(114;0.222) Colorectal(40;0.124)|COAD - Colon adenocarcinoma(40;0.141) TCTTAAGAGCTGCAAAGGACC 0.473 NA 29 66 0 0 0 0 C10orf137 26098 broad.mit.edu 37 10 127411642 127411642 + Missense_Mutation SNP G G A TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr10:127411642G>A uc001liq.1 + 3 616 c.323G>A c.(322-324)GGC>GAC p.G108D C10orf137_uc001lin.2_Missense_Mutation_p.G108D|C10orf137_uc001lio.1_Missense_Mutation_p.G108D|C10orf137_uc001lip.1_5'UTR NM_015608 NP_056423 Q3B7T1 EDRF1_HUMAN erythroid differentiation-related factor 1 108 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus binding ovary(5)|large_intestine(3)|lung(2) 10 all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936) GGTAGCTTTGGCATGGCATAT 0.328 NA 36 130 0 0 0 0 TCERG1L 256536 broad.mit.edu 37 10 132965138 132965138 + Silent SNP T T C TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr10:132965138T>C uc001lkp.2 - 5 953 c.867A>G c.(865-867)ACA>ACG p.T289T TCERG1L_uc009yax.1_RNA NM_174937 NP_777597 Q5VWI1 TCRGL_HUMAN transcription elongation regulator 1-like 289 large_intestine(2)|ovary(2) 4 all_cancers(35;1.22e-10)|all_epithelial(44;2.65e-09)|Lung NSC(174;0.00188)|all_lung(145;0.00307)|Melanoma(40;0.0179)|all_neural(114;0.0424)|Breast(234;0.0743)|Colorectal(57;0.09) all cancers(32;0.000899)|OV - Ovarian serous cystadenocarcinoma(35;0.0021)|Epithelial(32;0.00276) GGCCCCGCTCTGTCCTTGTAT 0.527 NA 7 32 0 0 0 0 KNDC1 85442 broad.mit.edu 37 10 135012588 135012588 + Missense_Mutation SNP G G T rs113826287 TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr10:135012588G>T uc001llz.1 + 14 2577 c.2576G>T c.(2575-2577)AGT>ATT p.S859I KNDC1_uc001lma.1_Missense_Mutation_p.S794I|KNDC1_uc001lmb.1_Missense_Mutation_p.S271I NM_152643 NP_689856 Q76NI1 VKIND_HUMAN kinase non-catalytic C-lobe domain (KIND) 859 Pro-rich. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction upper_aerodigestive_tract(1)|ovary(1) 2 all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05) GATGACCAGAGTCCAGACAGT 0.736 NA 11 18 4.69e-08 5.91e-08 1 0 KNDC1 85442 broad.mit.edu 37 10 135024220 135024220 + Silent SNP G G T rs144385432 TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr10:135024220G>T uc001llz.1 + 21 3901 c.3900G>T c.(3898-3900)ACG>ACT p.T1300T NM_152643 NP_689856 Q76NI1 VKIND_HUMAN kinase non-catalytic C-lobe domain (KIND) 1300 N-terminal Ras-GEF. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction upper_aerodigestive_tract(1)|ovary(1) 2 all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05) TCAACAGCACGCTGACCAGGT 0.612 NA 36 112 9.89e-21 1.44e-20 1 0 OR51A2 401667 broad.mit.edu 37 11 4976784 4976784 + Nonsense_Mutation SNP C C A TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr11:4976784C>A uc010qyt.1 - 1 160 c.160G>T c.(160-162)GAG>TAG p.E54* NM_001004748 NP_001004748 Q8NGJ7 O51A2_HUMAN olfactory receptor, family 51, subfamily A, 54 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19) AAGGAGGGCTCTGTCTTGATG 0.428 NA 20 22 2.89e-11 3.88e-11 1 0 OR52A1 23538 broad.mit.edu 37 11 5173083 5173083 + Missense_Mutation SNP G G A TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr11:5173083G>A uc010qyy.1 - 1 517 c.517C>T c.(517-519)CAC>TAC p.H173Y NM_012375 NP_036507 Q9UKL2 O52A1_HUMAN olfactory receptor, family 52, subfamily A, 173 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) ACTGTTGTGTGATAAAATTGA 0.443 NA 31 55 0 0 0 0 OR51B5 282763 broad.mit.edu 37 11 5364443 5364443 + Silent SNP T T A TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr11:5364443T>A uc001map.1 - 1 312 c.312A>T c.(310-312)TCA>TCT p.S104S HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Silent_p.S104S NM_001005567 NP_001005567 Q9H339 O51B5_HUMAN olfactory receptor, family 51, subfamily B, 104 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;3.05e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GAAAGGAAAGTGAGTGTATAA 0.507 NA 14 49 0 0 0 0 OR51I2 390064 broad.mit.edu 37 11 5474910 5474910 + Silent SNP C C A TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr11:5474910C>A uc010qzf.1 + 1 192 c.192C>A c.(190-192)TCC>TCA p.S64S HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Intron NM_001004754 NP_001004754 Q9H344 O51I2_HUMAN olfactory receptor, family 51, subfamily I, 64 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(2) 4 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;1.09e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135) ACTTCCTGTCCATGTTGTCCT 0.547 NA 33 85 9.65e-13 1.32e-12 1 0 OR52H1 390067 broad.mit.edu 37 11 5566075 5566075 + Missense_Mutation SNP C C T TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr11:5566075C>T uc010qzh.1 - 1 679 c.679G>A c.(679-681)GCA>ACA p.A227T HBG2_uc001mak.1_Intron NM_001005289 NP_001005289 Q8NGJ2 O52H1_HUMAN olfactory receptor, family 52, subfamily H, 227 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|breast(1) 2 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;5.33e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) AGGATGTGTGCGTAGGAAACA 0.498 NA 16 44 0 0 0 0 OR56A5 390084 broad.mit.edu 37 11 5989134 5989134 + Silent SNP C C T TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr11:5989134C>T uc010qzu.1 - 1 591 c.591G>A c.(589-591)TTG>TTA p.L197L NM_001146033 NP_001139505 P0C7T3 O56A5_HUMAN olfactory receptor, family 56, subfamily A, 197 Extracellular (Potential). integral to membrane|plasma membrane olfactory receptor activity 0 AGCTCTGATTCAAGGTGATGT 0.418 NA 3 7 0 0 0 0 OR10A6 390093 broad.mit.edu 37 11 7949914 7949914 + Missense_Mutation SNP G G T TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr11:7949914G>T uc010rbh.1 - 1 296 c.296C>A c.(295-297)GCA>GAA p.A99E NM_001004461 NP_001004461 Q8NH74 O10A6_HUMAN olfactory receptor, family 10, subfamily A, 99 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189) ATACATCTGTGCAAAACAGCC 0.428 NA 21 59 2.32e-17 3.34e-17 1 0 BBOX1 8424 broad.mit.edu 37 11 27147273 27147273 + Silent SNP T T A TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr11:27147273T>A uc001mre.1 + 8 1277 c.909T>A c.(907-909)CCT>CCA p.P303P BBOX1_uc009yih.1_Silent_p.P303P|BBOX1_uc001mrg.1_Silent_p.P303P NM_003986 NP_003977 O75936 BODG_HUMAN gamma-butyrobetaine dioxygenase 303 carnitine biosynthetic process actin cytoskeleton|cytosol|intracellular membrane-bounded organelle gamma-butyrobetaine dioxygenase activity|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding ovary(1) 1 Succinic acid(DB00139)|Vitamin C(DB00126) ttgatgtgcctgttgaaagag 0.154 NA 3 12 0 0 0 0 CCDC34 91057 broad.mit.edu 37 11 27379017 27379017 + Missense_Mutation SNP G G C TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr11:27379017G>C uc001mrh.1 - 2 485 c.431C>G c.(430-432)CCA>CGA p.P144R CCDC34_uc001mri.1_Missense_Mutation_p.P144R NM_030771 NP_110398 Q96HJ3 CCD34_HUMAN coiled-coil domain containing 34 isoform 1 144 0 CACCTCCCATGGTGTCAGGCG 0.418 NA 34 61 0 0 0 0 TCP11L1 55346 broad.mit.edu 37 11 33094117 33094117 + Silent SNP G G A TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr11:33094117G>A uc001mud.2 + 10 1825 c.1425G>A c.(1423-1425)GAG>GAA p.E475E TCP11L1_uc009yju.2_Silent_p.E290E|TCP11L1_uc010rei.1_Silent_p.E475E|TCP11L1_uc001mue.2_Silent_p.E475E|TCP11L1_uc001muf.1_RNA NM_018393 NP_060863 Q9NUJ3 T11L1_HUMAN t-complex 11 (mouse) like 1 475 0 TTCAGAGAGAGCTGGAGGAAG 0.493 NA 47 124 0 0 0 0 PDHX 8050 broad.mit.edu 37 11 34988233 34988233 + Missense_Mutation SNP G G A TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr11:34988233G>A uc001mvt.2 + 6 1214 c.688G>A c.(688-690)GAG>AAG p.E230K PDHX_uc010rep.1_Missense_Mutation_p.E215K|PDHX_uc010req.1_Intron NM_003477 NP_003468 O00330 ODPX_HUMAN pyruvate dehydrogenase complex, component X 230 pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate mitochondrial matrix acyltransferase activity kidney(1) 1 all_epithelial(35;0.115)|Lung NSC(22;0.218)|all_lung(20;0.242) all_hematologic(20;0.124) STAD - Stomach adenocarcinoma(6;0.00113) CAAGATTACCGAGTCCAGACC 0.502 NA 47 86 0 0 0 0 PAMR1 25891 broad.mit.edu 37 11 35463127 35463127 + Missense_Mutation SNP G G C TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr11:35463127G>C uc001mwg.2 - 7 978 c.935C>G c.(934-936)TCT>TGT p.S312C PAMR1_uc001mwf.2_Missense_Mutation_p.S329C|PAMR1_uc010rew.1_Missense_Mutation_p.S201C|PAMR1_uc010rex.1_Missense_Mutation_p.S272C NM_001001991 NP_001001991 Q6UXH9 PAMR1_HUMAN regeneration associated muscle protease isoform 312 Sushi 1. proteolysis extracellular region serine-type endopeptidase activity ovary(2) 2 ACAAAAGAAAGACACCACGGT 0.493 NA 37 99 0 0 0 0 LRRC4C 57689 broad.mit.edu 37 11 40137641 40137641 + Missense_Mutation SNP G G C TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr11:40137641G>C uc001mxa.1 - 2 2166 c.202C>G c.(202-204)CGT>GGT p.R68G LRRC4C_uc001mxc.1_Missense_Mutation_p.R64G|LRRC4C_uc001mxd.1_Missense_Mutation_p.R64G|LRRC4C_uc001mxb.1_Missense_Mutation_p.R64G NM_020929 NP_065980 Q9HCJ2 LRC4C_HUMAN netrin-G1 ligand precursor 68 LRRNT. regulation of axonogenesis integral to membrane protein binding ovary(4)|skin(3)|central_nervous_system(1) 8 all_lung(304;0.0575)|Lung NSC(402;0.138) GGAACCTCACGCAGGTTTTTC 0.527 NA 20 47 0 0 0 0 ARFGAP2 84364 broad.mit.edu 37 11 47197400 47197400 + Splice_Site SNP A A T TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr11:47197400A>T uc001ndt.2 - 3 279 c.264_splice c.e3+1 p.A88_splice ARFGAP2_uc010rha.1_5'Flank|ARFGAP2_uc010rhb.1_Splice_Site_p.A88_splice|ARFGAP2_uc001ndu.2_Splice_Site_p.A88_splice|ARFGAP2_uc010rhc.1_Intron|ARFGAP2_uc010rhd.1_Splice_Site_p.A88_splice|ARFGAP2_uc001ndv.1_Missense_Mutation_p.V89E NM_032389 NP_115765 Q8N6H7 ARFG2_HUMAN ADP-ribosylation factor GTPase activating protein transport|regulation of ARF GTPase activity|vesicle-mediated transport Golgi membrane|nucleolus|plasma membrane ARF GTPase activator activity|zinc ion binding ovary(1) 1 AAGGAGCTTTACCGCATTGGC 0.537 NA 9 34 0 0 0 0 MADD 8567 broad.mit.edu 37 11 47311587 47311587 + Missense_Mutation SNP G G T TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr11:47311587G>T uc001ner.1 + 18 3177 c.2986G>T c.(2986-2988)GAC>TAC p.D996Y MADD_uc001neq.2_Missense_Mutation_p.D976Y|MADD_uc001nev.1_Missense_Mutation_p.D933Y|MADD_uc001nes.1_Missense_Mutation_p.D953Y|MADD_uc001net.1_Missense_Mutation_p.D996Y|MADD_uc009yln.1_Missense_Mutation_p.D933Y|MADD_uc001neu.1_Missense_Mutation_p.D933Y|MADD_uc001nex.2_Missense_Mutation_p.D996Y|MADD_uc001nez.2_Missense_Mutation_p.D933Y|MADD_uc001new.2_Missense_Mutation_p.D976Y|MADD_uc009ylo.2_5'Flank NM_003682 NP_003673 Q8WXG6 MADD_HUMAN MAP-kinase activating death domain-containing 996 activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle cytoplasm|integral to membrane|plasma membrane death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity ovary(5)|skin(4)|central_nervous_system(2) 11 Lung(87;0.182) TGCCCGGCAGGACATCATCCC 0.587 NA 18 49 5.39e-06 6.43e-06 1 0 OR5L1 219437 broad.mit.edu 37 11 55579097 55579097 + Missense_Mutation SNP G G T TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr11:55579097G>T uc001nhw.1 + 1 155 c.155G>T c.(154-156)AGC>ATC p.S52I NM_001004738 NP_001004738 Q8NGL2 OR5L1_HUMAN olfactory receptor, family 5, subfamily L, 52 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(3)|ovary(2) 5 all_epithelial(135;0.208) ATTCAGGTCAGCTCTCGGCTC 0.478 NA 84 230 1.33e-51 2.02e-51 1 0 SPRYD5 84767 broad.mit.edu 37 11 55653180 55653180 + Silent SNP A A T TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr11:55653180A>T uc010rip.1 + 2 368 c.276A>T c.(274-276)ATA>ATT p.I92I SPRYD5_uc010riq.1_5'Flank NM_032681 NP_116070 Q9BSJ1 SPRY5_HUMAN SPRY domain containing 5 92 B box-type. intracellular zinc ion binding 0 all_epithelial(135;0.226) AGGAGCAAATATGTGGGATGC 0.493 NA 6 24 0 0 0 0 CTNND1 1500 broad.mit.edu 37 11 57559055 57559055 + Silent SNP C C G TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr11:57559055C>G uc001nmc.3 + 3 676 c.105C>G c.(103-105)CGC>CGG p.R35R CTNND1_uc001nlf.1_Silent_p.R35R|CTNND1_uc001nlh.1_Silent_p.R35R|CTNND1_uc001nlu.3_Intron|CTNND1_uc001nlt.3_Intron|CTNND1_uc001nls.3_Intron|CTNND1_uc001nlw.3_Intron|CTNND1_uc001nmf.3_Silent_p.R35R|CTNND1_uc001nmd.3_5'UTR|CTNND1_uc001nlk.3_5'UTR|CTNND1_uc001nme.3_Silent_p.R35R|CTNND1_uc001nll.3_5'UTR|CTNND1_uc001nmg.3_5'UTR|CTNND1_uc001nlj.3_5'UTR|CTNND1_uc001nlr.3_5'UTR|CTNND1_uc001nlp.3_5'UTR|CTNND1_uc001nlx.3_Intron|CTNND1_uc001nlz.3_Intron|CTNND1_uc009ymn.2_Intron|CTNND1_uc001nlm.3_Silent_p.R35R|CTNND1_uc001nly.3_Intron|CTNND1_uc001nmb.3_Intron|CTNND1_uc001nma.3_Intron|CTNND1_uc001nmi.3_Intron|CTNND1_uc001nmh.3_Silent_p.R35R|CTNND1_uc001nlq.3_Intron|CTNND1_uc001nln.3_Silent_p.R35R|CTNND1_uc001nli.3_Silent_p.R35R|CTNND1_uc001nlo.3_Intron|CTNND1_uc001nlv.3_Intron NM_001085458 NP_001078927 O60716 CTND1_HUMAN catenin, delta 1 isoform 1ABC 35 Potential. adherens junction organization|cell junction assembly|negative regulation of canonical Wnt receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway cytosol|midbody|nucleus cadherin binding|protein binding|receptor binding breast(4)|ovary(1)|kidney(1) 6 all_epithelial(135;0.155) AGGAACGGCGCCACGTCTCGG 0.637 NA 9 30 0 0 0 0 OR6Q1 219952 broad.mit.edu 37 11 57799217 57799217 + Missense_Mutation SNP C C A TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr11:57799217C>A uc010rjz.1 + 1 793 c.793C>A c.(793-795)CAG>AAG p.Q265K OR9Q1_uc001nmj.2_Intron NM_001005186 NP_001005186 Q8NGQ2 OR6Q1_HUMAN olfactory receptor, family 6, subfamily Q, 265 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(1) 1 Breast(21;0.0707)|all_epithelial(135;0.142) TATGTATGTCCAGACCAAGGT 0.502 NA 52 147 1.11e-26 1.65e-26 1 0 DTX4 23220 broad.mit.edu 37 11 58972335 58972335 + Missense_Mutation SNP G G A TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr11:58972335G>A uc001nns.2 + 9 2070 c.1813G>A c.(1813-1815)GCT>ACT p.A605T DTX4_uc001nnr.2_Missense_Mutation_p.A499T NM_015177 NP_055992 Q9Y2E6 DTX4_HUMAN deltex 4 homolog 605 Notch signaling pathway cytoplasm zinc ion binding lung(2)|central_nervous_system(1) 3 all_epithelial(135;0.125) GGCTGAACTGGCTGCCCAGGG 0.552 NA 4 13 0 0 0 0 AHNAK 79026 broad.mit.edu 37 11 62297619 62297619 + Missense_Mutation SNP C C G TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr11:62297619C>G uc001ntl.2 - 5 4570 c.4270G>C c.(4270-4272)GAT>CAT p.D1424H AHNAK_uc001ntk.1_Intron NM_001620 NP_001611 Q09666 AHNK_HUMAN AHNAK nucleoprotein isoform 1 1424 nervous system development nucleus protein binding ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1) 19 Melanoma(852;0.155) ATATTCACATCTGGAACTTCA 0.468 NA 81 228 0 0 0 0 GANAB 23193 broad.mit.edu 37 11 62393907 62393907 + Missense_Mutation SNP C C T TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr11:62393907C>T uc001nub.2 - 22 2557 c.2524G>A c.(2524-2526)GGA>AGA p.G842R GANAB_uc001ntz.2_Missense_Mutation_p.G29R|GANAB_uc001nua.2_Missense_Mutation_p.G864R|GANAB_uc001nuc.2_Missense_Mutation_p.G745R|GANAB_uc010rma.1_Missense_Mutation_p.G750R|GANAB_uc010rmb.1_Missense_Mutation_p.G728R NM_198334 NP_938148 Q14697 GANAB_HUMAN neutral alpha-glucosidase AB isoform 2 842 post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine endoplasmic reticulum lumen|Golgi apparatus|melanosome carbohydrate binding|glucan 1,3-alpha-glucosidase activity|protein binding ovary(3)|central_nervous_system(1)|skin(1) 5 AAGAGCTCTCCTTGAGCTGTA 0.557 NA 20 50 0 0 0 0 SYVN1 84447 broad.mit.edu 37 11 64898172 64898172 + Silent SNP A A G TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr11:64898172A>G uc001odb.2 - 11 1159 c.1065T>C c.(1063-1065)CCT>CCC p.P355P SYVN1_uc001odc.2_Silent_p.P355P|SYVN1_uc009yqc.2_Silent_p.P304P NM_172230 NP_757385 Q86TM6 SYVN1_HUMAN synoviolin 1 isoform b 355 Pro-rich.|Cytoplasmic (Potential). ER-associated protein catabolic process|response to stress endoplasmic reticulum membrane|integral to membrane|nucleus acid-amino acid ligase activity|protein binding|zinc ion binding ovary(1) 1 GGTGGGGGGCAGGGGGTGGCC 0.672 NA 3 18 0 0 0 0 KCNK7 10089 broad.mit.edu 37 11 65360635 65360635 + Silent SNP G G C TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr11:65360635G>C uc001oes.2 - 3 989 c.765C>G c.(763-765)ACC>ACG p.T255T KCNK7_uc001oeq.2_3'UTR|KCNK7_uc001oer.2_3'UTR|KCNK7_uc001oeu.2_3'UTR NM_033347 NP_203133 Q9Y2U2 KCNK7_HUMAN potassium channel, subfamily K, member 7 isoform 255 Cytoplasmic (Potential). integral to membrane potassium channel activity|voltage-gated ion channel activity 0 GCTCAGAGAAGGTCTCCACTG 0.612 NA 6 20 0 0 0 0 RELA 5970 broad.mit.edu 37 11 65421990 65421990 + Silent SNP T T A TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr11:65421990T>A uc001ofg.2 - 11 1655 c.1515A>T c.(1513-1515)ACA>ACT p.T505T RELA_uc001ofh.2_Silent_p.T502T|RELA_uc010ron.1_Silent_p.T516T|RELA_uc009yqr.2_Silent_p.T452T|RELA_uc001ofe.2_3'UTR|RELA_uc001off.2_Intron NM_021975 NP_068810 Q04206 TF65_HUMAN v-rel reticuloendotheliosis viral oncogene 505 anti-apoptosis|cellular defense response|cytokine-mediated signaling pathway|defense response to virus|inflammatory response|innate immune response|interspecies interaction between organisms|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription, DNA-dependent|nerve growth factor receptor signaling pathway|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of inflammatory response|response to interleukin-1|response to UV-B|T cell receptor signaling pathway|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|transcription factor complex activating transcription factor binding|chromatin binding|identical protein binding|NF-kappaB binding|phosphate binding|protein kinase binding|protein N-terminus binding|repressing transcription factor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding lung(3)|ovary(1) 4 TCTGGGCCCCTGTCACTAGGC 0.632 NA 17 42 0 0 0 0 ACY3 91703 broad.mit.edu 37 11 67414349 67414349 + Missense_Mutation SNP C C G TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr11:67414349C>G uc001omq.2 - 3 337 c.166G>C c.(166-168)GCA>CCA p.A56P NM_080658 NP_542389 Q96HD9 ACY3_HUMAN aspartoacylase 3 56 interspecies interaction between organisms apical plasma membrane|cytoplasm hydrolase activity, acting on ester bonds|metal ion binding 0 L-Aspartic Acid(DB00128) GATGTGGCTGCCGGGTTGGCC 0.657 NA 4 19 0 0 0 0 SUV420H1 51111 broad.mit.edu 37 11 67926430 67926430 + Silent SNP C C T TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr11:67926430C>T uc001onm.1 - 11 1639 c.1383G>A c.(1381-1383)CTG>CTA p.L461L SUV420H1_uc009yse.1_Silent_p.L47L|SUV420H1_uc001onn.1_Silent_p.L289L|SUV420H1_uc009ysf.2_Silent_p.L221L NM_017635 NP_060105 Q4FZB7 SV421_HUMAN suppressor of variegation 4-20 homolog 1 isoform 461 regulation of transcription, DNA-dependent|transcription, DNA-dependent protein binding ovary(2)|kidney(1) 3 TCTTTTGCTCCAGCCGCTTGC 0.348 NA 16 69 0 0 0 0 EED 8726 broad.mit.edu 37 11 85977217 85977217 + Silent SNP A A T TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr11:85977217A>T uc001pbp.2 + 8 1276 c.819A>T c.(817-819)GCA>GCT p.A273A EED_uc010rtm.1_Silent_p.A273A|EED_uc001pbq.2_Silent_p.A273A|EED_uc001pbr.2_Silent_p.A273A|EED_uc001pbs.2_Intron|EED_uc010rtn.1_RNA NM_003797 NP_003788 O75530 EED_HUMAN embryonic ectoderm development isoform a 273 Interaction with EZH2 (By similarity).|WD 4.|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 skin(1)|pancreas(1) 2 Acute lymphoblastic leukemia(157;7.24e-07)|all_hematologic(158;0.00092) TGATGAATGCAATTAAGGAAT 0.299 NA 24 91 0 0 0 0 FOLH1B 219595 broad.mit.edu 37 11 89402587 89402587 + Missense_Mutation SNP C C T TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr11:89402587C>T uc001pda.2 + 3 537 c.11C>T c.(10-12)TCA>TTA p.S4L NM_153696 NP_710163 Q9HBA9 FOH1B_HUMAN folate hydrolase 1B 4 proteolysis cytoplasm dipeptidase activity|metal ion binding|metallopeptidase activity ovary(3)|skin(2)|central_nervous_system(1) 6 ATGGGTGGCTCAGCACCACCA 0.378 NA 15 37 0 0 0 0 HEPHL1 341208 broad.mit.edu 37 11 93797618 93797618 + Silent SNP C C A TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr11:93797618C>A uc001pep.2 + 4 907 c.750C>A c.(748-750)ACC>ACA p.T250T NM_001098672 NP_001092142 Q6MZM0 HPHL1_HUMAN hephaestin-like 1 precursor 250 Plastocyanin-like 2.|Extracellular (Potential). copper ion transport integral to membrane copper ion binding|oxidoreductase activity ovary(3) 3 Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824) ATTTCTGCACCAACCCTGATT 0.408 NA 12 27 0.00185496 0.00204849 1 0 FOLR4 390243 broad.mit.edu 37 11 94040453 94040453 + Nonsense_Mutation SNP G G A TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr11:94040453G>A uc010rud.1 + 3 450 c.450G>A c.(448-450)TGG>TGA p.W150* NM_001080486 NP_001073955 A6ND01 FOLR4_HUMAN folate receptor 4 (delta) homolog 157 extracellular region folic acid binding|receptor activity ovary(1) 1 GTGGTGGCTGGGACTGGAGTC 0.587 NA 4 22 0 0 0 0 GUCY1A2 2977 broad.mit.edu 37 11 106579253 106579253 + Missense_Mutation SNP C C A TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr11:106579253C>A uc001pjg.1 - 7 2366 c.1976G>T c.(1975-1977)AGC>ATC p.S659I GUCY1A2_uc010rvo.1_Missense_Mutation_p.S680I|GUCY1A2_uc009yxn.1_Missense_Mutation_p.S690I NM_000855 NP_000846 P33402 GCYA2_HUMAN guanylate cyclase 1, soluble, alpha 2 659 intracellular signal transduction|platelet activation cytoplasm GTP binding|guanylate cyclase activity|heme binding large_intestine(3)|lung(2)|pancreas(2)|ovary(1) 8 all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068) BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476) AGTGGTTGGGCTGACATTGAT 0.502 NA 15 42 2.32e-05 2.7e-05 1 0 SIK3 23387 broad.mit.edu 37 11 116797940 116797940 + Missense_Mutation SNP A A T TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr11:116797940A>T uc001ppy.2 - 4 473 c.437T>A c.(436-438)ATA>AAA p.I146K SIK3_uc001ppz.2_Missense_Mutation_p.I45K|SIK3_uc001pqa.2_Missense_Mutation_p.I146K NM_025164 NP_079440 Q9Y2K2 SIK3_HUMAN serine/threonine-protein kinase QSK 146 Protein kinase. cytoplasm ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity ovary(4)|breast(3)|stomach(2)|lung(1)|skin(1)|kidney(1) 12 CTCACCTGCTATTTTGATATT 0.398 NA 25 58 0 0 0 0 SORL1 6653 broad.mit.edu 37 11 121485640 121485640 + Missense_Mutation SNP G G T TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr11:121485640G>T uc001pxx.2 + 41 5560 c.5480G>T c.(5479-5481)GGG>GTG p.G1827V SORL1_uc010rzp.1_Missense_Mutation_p.G673V|SORL1_uc010rzq.1_Missense_Mutation_p.G442V NM_003105 NP_003096 Q92673 SORL_HUMAN sortilin-related receptor containing LDLR class 1827 Extracellular (Potential).|Fibronectin type-III 3. cholesterol metabolic process|lipid transport|receptor-mediated endocytosis integral to plasma membrane|low-density lipoprotein particle low-density lipoprotein particle binding|transmembrane receptor activity ovary(5)|breast(4)|large_intestine(2)|skin(2)|central_nervous_system(1)|pancreas(1) 15 Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113) BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108) ACTGACTTGGGGGATAGCCCT 0.517 NA 30 56 5.77e-19 8.37e-19 1 0 CRTAM 56253 broad.mit.edu 37 11 122709301 122709301 + Splice_Site SNP G G A TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr11:122709301G>A uc001pyj.2 + 1 46 c.46_splice c.e1+1 p.E16_splice NM_019604 NP_062550 O95727 CRTAM_HUMAN class-I MHC-restricted T cell associated cell recognition|detection of tumor cell|positive regulation of cytokine secretion|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target integral to membrane|plasma membrane receptor binding ovary(1) 1 Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;5.28e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0308) CCCTTGCAAGGTAAGGACTTA 0.458 NA 16 51 0 0 0 0 OR10G8 219869 broad.mit.edu 37 11 123900617 123900617 + Silent SNP C C T TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr11:123900617C>T uc001pzp.1 + 1 288 c.288C>T c.(286-288)TGC>TGT p.C96C NM_001004464 NP_001004464 Q8NGN5 O10G8_HUMAN olfactory receptor, family 10, subfamily G, 96 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521) TCCACAGCTGCATGGCTCAGC 0.527 NA 41 130 0 0 0 0 OR8G2 26492 broad.mit.edu 37 11 124095640 124095640 + Silent SNP C C T TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr11:124095640C>T uc010saf.1 + 1 243 c.243C>T c.(241-243)TTC>TTT p.F81F NM_001007249 NP_001007250 Q15614 OR8G2_HUMAN olfactory receptor, family 8, subfamily G, 81 integral to membrane olfactory receptor activity 0 Breast(109;0.0157)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.91e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528) GTCTGTCCTTCATTGATATCT 0.463 NA 50 117 0 0 0 0 SNX19 399979 broad.mit.edu 37 11 130785267 130785267 + Missense_Mutation SNP C C T TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr11:130785267C>T uc001qgk.3 - 1 1116 c.568G>A c.(568-570)GAG>AAG p.E190K SNX19_uc010sce.1_Intron|SNX19_uc010scf.1_Intron|SNX19_uc010scg.1_Intron|SNX19_uc001qgl.3_Missense_Mutation_p.E190K|SNX19_uc009zcx.1_Intron NM_014758 NP_055573 Q92543 SNX19_HUMAN sorting nexin 19 190 PXA. cell communication|protein transport cytoplasmic vesicle membrane phosphatidylinositol binding|protein binding ovary(2)|lung(2) 4 all_hematologic(175;0.0597) Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425) OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233) CAGTAAGCCTCCCAGAGGTGG 0.572 NA 7 38 0 0 0 0 NTM 50863 broad.mit.edu 37 11 132180115 132180115 + Silent SNP G G A TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr11:132180115G>A uc001qgp.2 + 5 1435 c.771G>A c.(769-771)AAG>AAA p.K257K NTM_uc001qgm.2_Silent_p.K257K|NTM_uc010sch.1_Silent_p.K248K|NTM_uc010sci.1_Silent_p.K257K|NTM_uc010scj.1_Silent_p.K216K|NTM_uc001qgo.2_Silent_p.K257K|NTM_uc001qgq.2_Silent_p.K257K|NTM_uc001qgr.2_5'UTR NM_016522 NP_057606 Q9P121 NTRI_HUMAN neurotrimin isoform 1 257 Ig-like C2-type 3. cell adhesion|neuron recognition anchored to membrane|plasma membrane ovary(4)|central_nervous_system(1)|skin(1) 6 AGTGGTACAAGGATGACAAAA 0.512 NA 53 137 0 0 0 0 ADIPOR2 79602 broad.mit.edu 37 12 1895200 1895200 + Missense_Mutation SNP A A G TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr12:1895200A>G uc001qjm.2 + 8 1320 c.1123A>G c.(1123-1125)ATG>GTG p.M375V ADIPOR2_uc001qjn.2_Missense_Mutation_p.M375V NM_024551 NP_078827 Q86V24 ADR2_HUMAN adiponectin receptor 2 375 Extracellular (Potential). fatty acid oxidation|hormone-mediated signaling pathway integral to membrane hormone binding|receptor activity 0 Ovarian(42;0.107) OV - Ovarian serous cystadenocarcinoma(31;0.000382) GTTTCGTTTCATGATCGGCGG 0.537 NA 90 101 0 0 0 0 TEAD4 7004 broad.mit.edu 37 12 3147246 3147246 + Missense_Mutation SNP T T A TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr12:3147246T>A uc010sej.1 + 11 1284 c.1007T>A c.(1006-1008)TTC>TAC p.F336Y TEAD4_uc010sek.1_Missense_Mutation_p.F293Y|TEAD4_uc001qln.2_Missense_Mutation_p.F208Y NM_003213 NP_003204 Q15561 TEAD4_HUMAN TEA domain family member 4 isoform 1 337 F->A: Reduced interaction with YAP1. hippo signaling cascade|muscle organ development|skeletal system development DNA binding|protein binding|sequence-specific DNA binding transcription factor activity 0 Ovarian(42;0.211) OV - Ovarian serous cystadenocarcinoma(31;0.000563)|COAD - Colon adenocarcinoma(12;0.0831) GTCTGCTCTTTCGGCAAGCAG 0.577 NA 31 112 0 0 0 0 DYRK4 8798 broad.mit.edu 37 12 4702204 4702204 + Missense_Mutation SNP A A G TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr12:4702204A>G uc001qmx.2 + 4 315 c.155A>G c.(154-156)TAT>TGT p.Y52C DYRK4_uc009zeh.1_Missense_Mutation_p.Y167C|DYRK4_uc001qmy.1_Missense_Mutation_p.Y52C NM_003845 NP_003836 Q9NR20 DYRK4_HUMAN dual-specificity tyrosine-(Y)-phosphorylation 52 Golgi apparatus ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity lung(2)|skin(1) 3 Colorectal(7;0.103) CTGTCTCCATATGAACAAAGT 0.483 NA 29 103 0 0 0 0 NCAPD2 9918 broad.mit.edu 37 12 6623493 6623493 + Missense_Mutation SNP G G T TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr12:6623493G>T uc001qoo.2 + 7 696 c.650G>T c.(649-651)CGC>CTC p.R217L NCAPD2_uc009zen.1_Missense_Mutation_p.R89L|NCAPD2_uc010sfd.1_Missense_Mutation_p.R172L NM_014865 NP_055680 Q15021 CND1_HUMAN non-SMC condensin I complex, subunit D2 217 Interactions with SMC2 and SMC4. cell division|mitotic chromosome condensation condensin core heterodimer|cytoplasm histone binding ovary(2)|lung(1)|breast(1)|kidney(1) 5 CAGAAGAACCGCCCCACTCGG 0.488 NA 47 223 4.19e-23 6.17e-23 1 0 LEPREL2 10536 broad.mit.edu 37 12 6940435 6940435 + Silent SNP G G A TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr12:6940435G>A uc001qra.1 + 7 1075 c.1041G>A c.(1039-1041)CCG>CCA p.P347P LEPREL2_uc001qqz.1_Silent_p.P154P|LEPREL2_uc001qrb.1_Silent_p.P154P NM_014262 NP_055077 Q8IVL6 P3H3_HUMAN leprecan-like 2 precursor 347 TPR 4. negative regulation of cell proliferation endoplasmic reticulum iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity 0 L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126) TCTTCTACCCGGAGGATGAGG 0.587 NA 25 154 0 0 0 0 PZP 5858 broad.mit.edu 37 12 9356471 9356471 + Missense_Mutation SNP T T A TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr12:9356471T>A uc001qvl.2 - 2 189 c.160A>T c.(160-162)AAT>TAT p.N54Y PZP_uc009zgl.2_5'UTR NM_002864 NP_002855 pregnancy-zone protein precursor ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1) 5 ACTGTCTCATTCAGGTGGCTC 0.532 NA 31 105 0 0 0 0 GRIN2B 2904 broad.mit.edu 37 12 14018983 14018983 + Missense_Mutation SNP G G A TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr12:14018983G>A uc001rbt.2 - 2 339 c.160C>T c.(160-162)CAC>TAC p.H54Y NM_000834 NP_000825 Q13224 NMDE2_HUMAN N-methyl-D-aspartate receptor subunit 2B 54 Extracellular (Potential). response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding central_nervous_system(4)|ovary(3)|skin(3)|lung(2) 12 Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) TCTTTCTCGTGGGCATCCTTG 0.572 NA 23 113 0 0 0 0 SLCO1C1 53919 broad.mit.edu 37 12 20893179 20893179 + Missense_Mutation SNP T T C TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr12:20893179T>C uc001rej.3 + 13 1965 c.1610T>C c.(1609-1611)ATA>ACA p.I537T SLCO1C1_uc010sii.1_Missense_Mutation_p.I537T|SLCO1C1_uc010sij.1_Missense_Mutation_p.I488T|SLCO1C1_uc009zip.2_Missense_Mutation_p.I371T|SLCO1C1_uc001rei.2_Missense_Mutation_p.I537T|SLCO1C1_uc010sik.1_Missense_Mutation_p.I419T NM_017435 NP_059131 Q9NYB5 SO1C1_HUMAN solute carrier organic anion transporter family, 537 Extracellular (Potential). sodium-independent organic anion transport integral to membrane|plasma membrane thyroid hormone transmembrane transporter activity ovary(5)|pancreas(1)|skin(1) 7 Esophageal squamous(101;0.149) TCCTCAGGCATAGTGGGAAGA 0.388 NA 18 72 0 0 0 0 PDZRN4 29951 broad.mit.edu 37 12 41966994 41966994 + Nonsense_Mutation SNP G G T TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr12:41966994G>T uc010skn.1 + 10 1884 c.1816G>T c.(1816-1818)GAA>TAA p.E606* PDZRN4_uc001rmq.3_Nonsense_Mutation_p.E547*|PDZRN4_uc009zjz.2_Nonsense_Mutation_p.E545*|PDZRN4_uc001rmr.2_Nonsense_Mutation_p.E432* NM_013377 NP_037509 Q6ZMN7 PZRN4_HUMAN PDZ domain containing RING finger 4 isoform 2 805 ubiquitin-protein ligase activity|zinc ion binding lung(3)|skin(3)|ovary(2)|large_intestine(1)|kidney(1)|pancreas(1) 11 all_cancers(12;0.000673) Lung NSC(34;0.0205)|all_lung(34;0.0264) TTGTAGCGCTGAAAGCAAGGA 0.517 NA 42 124 4.16e-14 5.78e-14 1 0 COL2A1 1280 broad.mit.edu 37 12 48368576 48368576 + Missense_Mutation SNP G G C TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr12:48368576G>C uc001rqu.2 - 52 4137 c.3956C>G c.(3955-3957)ACT>AGT p.T1319S COL2A1_uc001rqt.2_Missense_Mutation_p.T100S|COL2A1_uc009zkw.2_RNA|COL2A1_uc001rqv.2_Missense_Mutation_p.T1250S NM_001844 NP_001835 P02458 CO2A1_HUMAN collagen, type II, alpha 1 isoform 1 precursor 1319 Fibrillar collagen NC1. axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception collagen type II identical protein binding|platelet-derived growth factor binding ovary(1)|skin(1) 2 Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214) Collagenase(DB00048) AGTCTCGCCAGTCTCCATGTT 0.547 NA 36 123 0 0 0 0 COL2A1 1280 broad.mit.edu 37 12 48389061 48389061 + Missense_Mutation SNP G G C TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr12:48389061G>C uc001rqu.2 - 11 920 c.739C>G c.(739-741)CCC>GCC p.P247A COL2A1_uc001rqv.2_Missense_Mutation_p.P178A NM_001844 NP_001835 P02458 CO2A1_HUMAN collagen, type II, alpha 1 isoform 1 precursor 247 Triple-helical region. axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception collagen type II identical protein binding|platelet-derived growth factor binding ovary(1)|skin(1) 2 Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214) Collagenase(DB00048) TTTCCAGGGGGACCAGGAGGA 0.502 NA 19 112 0 0 0 0 ASB8 140461 broad.mit.edu 37 12 48543741 48543741 + Missense_Mutation SNP T T C TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr12:48543741T>C uc001rrh.2 - 4 444 c.275A>G c.(274-276)TAT>TGT p.Y92C ASB8_uc010slr.1_Missense_Mutation_p.Y88C NM_024095 NP_077000 Q9H765 ASB8_HUMAN ankyrin repeat and SOCS box-containing 8 92 ANK 2. intracellular signal transduction cytoplasm|nucleus kidney(1) 1 CTCTGCTGCATAGTGGAGGGC 0.498 NA 22 50 0 0 0 0 CSAD 51380 broad.mit.edu 37 12 53563908 53563908 + Missense_Mutation SNP C C T TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr12:53563908C>T uc001sby.2 - 9 776 c.650G>A c.(649-651)GGG>GAG p.G217E CSAD_uc001sbw.2_Missense_Mutation_p.G70E|CSAD_uc009zmt.2_5'UTR|CSAD_uc010snx.1_Missense_Mutation_p.G244E|CSAD_uc001sbz.2_Missense_Mutation_p.G217E|CSAD_uc009zmu.2_Missense_Mutation_p.G70E|CSAD_uc001sca.3_RNA NM_015989 NP_057073 Q9Y600 CSAD_HUMAN cysteine sulfinic acid decarboxylase 217 carboxylic acid metabolic process pyridoxal phosphate binding|sulfinoalanine decarboxylase activity ovary(1) 1 L-Cysteine(DB00151)|Pyridoxal Phosphate(DB00114) GACCATTTTCCCTCTGAAAAA 0.522 NA Hereditary_Prostate_Cancer 20 49 0 0 0 0 OR10A7 121364 broad.mit.edu 37 12 55615713 55615713 + Missense_Mutation SNP A A G TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr12:55615713A>G uc010spf.1 + 1 905 c.905A>G c.(904-906)AAG>AGG p.K302R NM_001005280 NP_001005280 Q8NGE5 O10A7_HUMAN olfactory receptor, family 10, subfamily A, 302 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(4) 4 GGGGCTGTCAAGAGGACAATC 0.428 NA 5 35 0 0 0 0 NAV3 89795 broad.mit.edu 37 12 78444708 78444708 + Missense_Mutation SNP G G C TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr12:78444708G>C uc001syp.2 + 11 2470 c.2297G>C c.(2296-2298)AGT>ACT p.S766T NAV3_uc001syo.2_Missense_Mutation_p.S766T|NAV3_uc010sub.1_Missense_Mutation_p.S266T NM_014903 NP_055718 Q8IVL0 NAV3_HUMAN neuron navigator 3 766 nuclear outer membrane ATP binding|nucleoside-triphosphatase activity large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1) 17 TATCCTCGCAGTGGTACCAGT 0.587 NA HNSCC(70;0.22) 7 32 0 0 0 0 PLXNC1 10154 broad.mit.edu 37 12 94603380 94603380 + Missense_Mutation SNP G G A TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr12:94603380G>A uc001tdc.2 + 5 1703 c.1454G>A c.(1453-1455)GGA>GAA p.G485E NM_005761 NP_005752 O60486 PLXC1_HUMAN plexin C1 precursor 485 Extracellular (Potential). axon guidance|cell adhesion integral to membrane|intracellular|plasma membrane receptor activity|receptor binding ovary(2)|central_nervous_system(1) 3 ACTTTTCAAGGAGATTGTGTA 0.388 NA 36 149 0 0 0 0 PLXNC1 10154 broad.mit.edu 37 12 94641821 94641821 + Missense_Mutation SNP C C G TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr12:94641821C>G uc001tdc.2 + 13 2780 c.2531C>G c.(2530-2532)CCC>CGC p.P844R NM_005761 NP_005752 O60486 PLXC1_HUMAN plexin C1 precursor 844 Extracellular (Potential). axon guidance|cell adhesion integral to membrane|intracellular|plasma membrane receptor activity|receptor binding ovary(2)|central_nervous_system(1) 3 CGGGAGGACCCCAGATTCACG 0.493 NA 19 58 0 0 0 0 ACTR6 64431 broad.mit.edu 37 12 100599500 100599500 + Missense_Mutation SNP T T A TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr12:100599500T>A uc001thb.1 + 3 289 c.233T>A c.(232-234)CTT>CAT p.L78H ACTR6_uc010svh.1_Missense_Mutation_p.L78H|ACTR6_uc001thc.1_5'UTR|ACTR6_uc001thd.1_Missense_Mutation_p.L78H|ACTR6_uc009ztu.1_5'UTR|ACTR6_uc001the.1_5'UTR|ACTR6_uc001thf.1_5'UTR|uc001thg.1_Intron NM_022496 NP_071941 Q9GZN1 ARP6_HUMAN ARP6 actin-related protein 6 homolog 78 cytoplasm|cytoskeleton ovary(1) 1 TGGGATTACCTTTTTGGAAAA 0.209 NA 9 23 0 0 0 0 PAH 5053 broad.mit.edu 37 12 103232972 103232972 + Missense_Mutation SNP G G A rs76542238 TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr12:103232972G>A uc001tjq.1 - 14 1812 c.1340C>T c.(1339-1341)GCC>GTC p.A447V NM_000277 NP_000268 P00439 PH4H_HUMAN phenylalanine hydroxylase 447 A -> D (in PKU). catecholamine biosynthetic process|L-phenylalanine catabolic process|neurotransmitter biosynthetic process cytosol phenylalanine 4-monooxygenase activity ovary(4) 4 Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Levodopa(DB01235)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360) TTTCTGGAGGGCACTGCAAAG 0.398 NA 12 34 0 0 0 0 CUX2 23316 broad.mit.edu 37 12 111655724 111655724 + Nonsense_Mutation SNP A A T TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr12:111655724A>T uc001tsa.1 + 3 358 c.205A>T c.(205-207)AAA>TAA p.K69* CUX2_uc001tsb.1_Nonsense_Mutation_p.K124* NM_015267 NP_056082 O14529 CUX2_HUMAN cut-like 2 69 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(3)|skin(2)|breast(1) 6 TCCTGTATTAAAAAGCTTCCA 0.567 NA 28 84 0 0 0 0 CUX2 23316 broad.mit.edu 37 12 111758214 111758214 + Missense_Mutation SNP G G T TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr12:111758214G>T uc001tsa.1 + 17 2554 c.2401G>T c.(2401-2403)GCC>TCC p.A801S NM_015267 NP_056082 O14529 CUX2_HUMAN cut-like 2 801 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(3)|skin(2)|breast(1) 6 CCGCCCCTACGCCTCCGTGTC 0.721 NA 20 55 6.21e-17 8.89e-17 1 0 SRRM4 84530 broad.mit.edu 37 12 119583342 119583342 + Missense_Mutation SNP G G A TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr12:119583342G>A uc001txa.1 + 9 1220 c.928G>A c.(928-930)GGG>AGG p.G310R NM_194286 NP_919262 A7MD48 SRRM4_HUMAN KIAA1853 protein 310 Ser-rich. cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing|RNA splicing nucleus mRNA binding ovary(2) 2 CCAGGAGAAGGGGAGCCCCAG 0.622 NA 4 28 0 0 0 0 SRRM4 84530 broad.mit.edu 37 12 119592088 119592088 + Silent SNP C C A TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr12:119592088C>A uc001txa.1 + 12 1724 c.1432C>A c.(1432-1434)CGG>AGG p.R478R NM_194286 NP_919262 A7MD48 SRRM4_HUMAN KIAA1853 protein 478 Ser-rich.|Arg-rich. cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing|RNA splicing nucleus mRNA binding ovary(2) 2 CTCGCAGCAGCGGGAGCGCGA 0.662 NA 3 17 0.004672 0.00506539 1 0 VPS37B 79720 broad.mit.edu 37 12 123352007 123352007 + Missense_Mutation SNP C C T TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr12:123352007C>T uc001udl.2 - 4 617 c.514G>A c.(514-516)GCC>ACC p.A172T NM_024667 NP_078943 Q9H9H4 VP37B_HUMAN vacuolar protein sorting 37B 172 VPS37 C-terminal.|Pro-rich. cellular membrane organization|endosome transport|protein transport late endosome membrane 0 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;5.08e-05)|Epithelial(86;0.000197)|BRCA - Breast invasive adenocarcinoma(302;0.205) GGGGCCAGGGCCTGTGGGAGT 0.642 NA 35 110 0 0 0 0 NCOR2 9612 broad.mit.edu 37 12 124846676 124846676 + Missense_Mutation SNP C C G TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr12:124846676C>G uc010tba.1 - 22 3213 c.3096G>C c.(3094-3096)AAG>AAC p.K1032N NCOR2_uc010tay.1_Missense_Mutation_p.K1031N|NCOR2_uc010taz.1_Missense_Mutation_p.K1015N|NCOR2_uc010tbb.1_Missense_Mutation_p.K1032N|NCOR2_uc010tbc.1_Missense_Mutation_p.K1014N|NCOR2_uc001ugj.1_Missense_Mutation_p.K1032N NM_001077261 NP_001070729 Q9Y618 NCOR2_HUMAN nuclear receptor co-repressor 2 isoform 2 1032 cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent nuclear body|nucleus|transcriptional repressor complex DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity skin(3)|ovary(1) 4 all_neural(191;0.0804)|Medulloblastoma(191;0.163) Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764) ACTCACCCTCCTTGTCGGCGG 0.652 NA 5 11 0 0 0 0 NCOR2 9612 broad.mit.edu 37 12 124862866 124862866 + Missense_Mutation SNP G G A TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr12:124862866G>A uc010tba.1 - 18 2201 c.2084C>T c.(2083-2085)GCA>GTA p.A695V NCOR2_uc010tay.1_Missense_Mutation_p.A695V|NCOR2_uc010taz.1_Missense_Mutation_p.A695V|NCOR2_uc010tbb.1_Missense_Mutation_p.A695V|NCOR2_uc010tbc.1_Missense_Mutation_p.A694V|NCOR2_uc001ugj.1_Missense_Mutation_p.A695V NM_001077261 NP_001070729 Q9Y618 NCOR2_HUMAN nuclear receptor co-repressor 2 isoform 2 695 cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent nuclear body|nucleus|transcriptional repressor complex DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity skin(3)|ovary(1) 4 all_neural(191;0.0804)|Medulloblastoma(191;0.163) Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764) GGGCGGGAATGCAGCCTCCTC 0.667 NA 12 39 0 0 0 0 TMEM132B 114795 broad.mit.edu 37 12 125834477 125834477 + Missense_Mutation SNP G G T TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr12:125834477G>T uc001uhe.1 + 2 540 c.532G>T c.(532-534)GGG>TGG p.G178W NM_052907 NP_443139 Q14DG7 T132B_HUMAN transmembrane protein 132B 178 Extracellular (Potential). integral to membrane skin(11)|ovary(5)|large_intestine(1)|pancreas(1)|breast(1) 19 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362) TCGGCTGCAAGGGGCCCCAGG 0.622 NA 28 79 8.58e-18 1.24e-17 1 0 RNF6 6049 broad.mit.edu 37 13 26789615 26789615 + Missense_Mutation SNP C C T TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr13:26789615C>T uc001uqo.2 - 5 695 c.404G>A c.(403-405)AGA>AAA p.R135K RNF6_uc001uqn.1_Missense_Mutation_p.R135K|RNF6_uc010aak.2_Missense_Mutation_p.R135K|RNF6_uc001uqp.2_Missense_Mutation_p.R135K|RNF6_uc001uqq.2_Missense_Mutation_p.R135K|RNF6_uc010tdk.1_Missense_Mutation_p.E14K NM_183044 NP_898865 Q9Y252 RNF6_HUMAN ring finger protein 6 135 negative regulation of axon extension|positive regulation of transcription, DNA-dependent|protein K27-linked ubiquitination|protein K48-linked ubiquitination|protein K6-linked ubiquitination|regulation of androgen receptor signaling pathway|ubiquitin-dependent protein catabolic process axon|cytoplasm|PML body androgen receptor binding|ubiquitin-protein ligase activity|zinc ion binding ovary(1)|skin(1) 2 Colorectal(5;0.000442) Lung SC(185;0.0156)|Breast(139;0.147) all cancers(112;0.00893)|Epithelial(112;0.0481)|OV - Ovarian serous cystadenocarcinoma(117;0.148)|GBM - Glioblastoma multiforme(144;0.23)|Lung(94;0.245) ACTCACAGCTCTCCAAGTTTG 0.408 NA 20 34 0 0 0 0 LNX2 222484 broad.mit.edu 37 13 28155627 28155627 + Missense_Mutation SNP T T G TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr13:28155627T>G uc001url.3 - 2 523 c.214A>C c.(214-216)AAG>CAG p.K72Q LNX2_uc001urm.1_Missense_Mutation_p.K72Q NM_153371 NP_699202 Q8N448 LNX2_HUMAN ligand of numb-protein X 2 72 RING-type. zinc ion binding ovary(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)|central_nervous_system(1) 6 Lung SC(185;0.0156) Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105) OV - Ovarian serous cystadenocarcinoma(117;0.113)|all cancers(112;0.127)|Epithelial(112;0.248) CTGAGGCACTTGTAGCAGAAT 0.413 NA 24 28 0 0 0 0 AKAP11 11215 broad.mit.edu 37 13 42874719 42874719 + Missense_Mutation SNP A A G TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr13:42874719A>G uc001uys.1 + 8 2012 c.1837A>G c.(1837-1839)AGT>GGT p.S613G NM_016248 NP_057332 Q9UKA4 AKA11_HUMAN A-kinase anchor protein 11 613 intracellular protein kinase cascade microtubule organizing center protein kinase A binding|protein phosphatase 1 binding ovary(1)|central_nervous_system(1) 2 Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114) OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19) ACGTGCCATTAGTGGCCTGGC 0.388 NA 11 30 0 0 0 0 DIAPH3 81624 broad.mit.edu 37 13 60616954 60616954 + Missense_Mutation SNP C C T TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr13:60616954C>T uc001vht.2 - 5 715 c.496G>A c.(496-498)GGA>AGA p.G166R DIAPH3_uc001vhw.1_Missense_Mutation_p.G155R|DIAPH3_uc010aed.1_Missense_Mutation_p.G120R|DIAPH3_uc010aee.1_Missense_Mutation_p.G96R|uc001vhx.2_Intron NM_001042517 NP_001035982 Q9NSV4 DIAP3_HUMAN diaphanous homolog 3 isoform a 166 GBD/FH3. actin cytoskeleton organization actin binding|Rho GTPase binding ovary(2) 2 Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132) GBM - Glioblastoma multiforme(99;2.77e-05) TTAAGACTTCCCTATAAAATA 0.378 NA 8 21 0 0 0 0 DACH1 1602 broad.mit.edu 37 13 72063214 72063214 + Missense_Mutation SNP C C T TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr13:72063214C>T uc010thn.1 - 8 2060 c.1637G>A c.(1636-1638)GGA>GAA p.G546E DACH1_uc010tho.1_Missense_Mutation_p.G398E|DACH1_uc010thp.1_Missense_Mutation_p.G344E NM_080759 NP_542937 Q9UI36 DACH1_HUMAN dachshund homolog 1 isoform a 598 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus DNA binding|nucleotide binding|protein binding breast(1) 1 Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198) GBM - Glioblastoma multiforme(99;0.00032) CAGTGGTTGTCCATGCCCAGT 0.448 NA 55 104 0 0 0 0 MYCBP2 23077 broad.mit.edu 37 13 77672447 77672447 + Missense_Mutation SNP C C A TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr13:77672447C>A uc001vkf.2 - 57 8819 c.8728G>T c.(8728-8730)GAC>TAC p.D2910Y MYCBP2_uc010aev.2_Missense_Mutation_p.D2314Y|MYCBP2_uc001vkg.1_Missense_Mutation_p.D433Y|MYCBP2_uc010aew.2_Missense_Mutation_p.D296Y NM_015057 NP_055872 O75592 MYCB2_HUMAN MYC binding protein 2 2910 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ligase activity|protein binding|zinc ion binding ovary(4)|breast(4)|skin(3)|lung(2)|pancreas(1) 14 Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22) GBM - Glioblastoma multiforme(99;0.109) CAGGTGCTGTCTGTTAGACTA 0.423 NA 35 68 4.66e-17 6.67e-17 1 0 SLITRK1 114798 broad.mit.edu 37 13 84453670 84453670 + Missense_Mutation SNP G G T TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr13:84453670G>T uc001vlk.2 - 1 2859 c.1973C>A c.(1972-1974)GCG>GAG p.A658E NM_052910 NP_443142 Q96PX8 SLIK1_HUMAN slit and trk like 1 protein precursor 658 Cytoplasmic (Potential). integral to membrane ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 5 Medulloblastoma(90;0.18) Breast(118;0.212) GBM - Glioblastoma multiforme(99;0.07) AATCTCGGACGCGGAGGAGTT 0.552 NA 20 24 1.4e-16 2e-16 1 0 SLC10A2 6555 broad.mit.edu 37 13 103701711 103701711 + Missense_Mutation SNP G G C rs144946104 TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr13:103701711G>C uc001vpy.3 - 5 1444 c.847C>G c.(847-849)CTC>GTC p.L283V NM_000452 NP_000443 Q12908 NTCP2_HUMAN solute carrier family 10 (sodium/bile acid 283 Extracellular (Potential). bile acid metabolic process|organic anion transport integral to plasma membrane bile acid:sodium symporter activity ovary(3)|skin(1) 4 all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211) ACGACATTGAGCTCCTCAGGA 0.473 NA 34 21 0 0 0 0 CUL4A 8451 broad.mit.edu 37 13 113887572 113887572 + Silent SNP G G A TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr13:113887572G>A uc010tjy.1 + 7 605 c.594G>A c.(592-594)CTG>CTA p.L198L CUL4A_uc010tjx.1_Silent_p.L98L|CUL4A_uc010agu.2_Silent_p.L59L|CUL4A_uc001vtl.1_5'Flank NM_001008895 NP_001008895 Q13619 CUL4A_HUMAN cullin 4A isoform 1 198 cell cycle arrest|DNA repair|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process Cul4A-RING ubiquitin ligase complex ubiquitin protein ligase binding central_nervous_system(2)|skin(1) 3 Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.0482)|all_epithelial(44;0.0148)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188) all cancers(43;0.112) GAATCCTACTGCTGATCGAGC 0.512 NA 43 38 0 0 0 0 POTEG 404785 broad.mit.edu 37 14 19563520 19563520 + Missense_Mutation SNP C C T TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr14:19563520C>T uc001vuz.1 + 5 1086 c.1034C>T c.(1033-1035)GCT>GTT p.A345V POTEG_uc001vva.1_RNA|POTEG_uc010ahc.1_RNA|uc001vvb.2_RNA NM_001005356 NP_001005356 Q6S5H5 POTEG_HUMAN POTE ankyrin domain family, member G 345 ovary(1) 1 AGAGAGTATGCTGTTTCTAGT 0.353 NA 45 161 0 0 0 0 OR10G2 26534 broad.mit.edu 37 14 22102184 22102184 + Missense_Mutation SNP G G T TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr14:22102184G>T uc010tmc.1 - 1 815 c.815C>A c.(814-816)CCC>CAC p.P272H NM_001005466 NP_001005466 Q8NGC3 O10G2_HUMAN olfactory receptor, family 10, subfamily G, 272 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 all_cancers(95;0.00113) Acute lymphoblastic leukemia(2;0.0279) GBM - Glioblastoma multiforme(265;0.0142) CCCATCCAGGGGGTCTTTGGA 0.542 NA 22 62 2.38e-13 3.28e-13 1 0 EFS 10278 broad.mit.edu 37 14 23826521 23826521 + Missense_Mutation SNP C C A TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr14:23826521C>A uc001wjo.2 - 6 2208 c.1600G>T c.(1600-1602)GCC>TCC p.A534S EFS_uc001wjp.2_Missense_Mutation_p.A441S|EFS_uc010tnm.1_Missense_Mutation_p.A365S NM_005864 NP_005855 O43281 EFS_HUMAN embryonal Fyn-associated substrate isoform 1 534 cell adhesion|intracellular signal transduction cytoplasm SH3 domain binding large_intestine(1) 1 all_cancers(95;7.12e-06) GBM - Glioblastoma multiforme(265;0.00649) TCTTGGATGGCAGGGCTGGAT 0.612 NA 4 101 0.00909568 0.00976828 1 0 HEATR5A 25938 broad.mit.edu 37 14 31852842 31852842 + Missense_Mutation SNP C C T TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr14:31852842C>T uc001wrf.3 - 4 679 c.602G>A c.(601-603)CGG>CAG p.R201Q HEATR5A_uc010ami.2_Missense_Mutation_p.R99Q|HEATR5A_uc001wrg.1_Missense_Mutation_p.R83Q|HEATR5A_uc010tpk.1_Missense_Mutation_p.R494Q NM_015473 NP_056288 Q86XA9 HTR5A_HUMAN HEAT repeat containing 5A 488 binding ovary(1) 1 Hepatocellular(127;0.0877)|Breast(36;0.137) LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173) GBM - Glioblastoma multiforme(265;0.0059) TCCAGTAAGCCGTTCAAGGCA 0.473 NA 55 113 0 0 0 0 NPAS3 64067 broad.mit.edu 37 14 34269279 34269279 + Missense_Mutation SNP C C T TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr14:34269279C>T uc001wru.2 + 12 1830 c.1766C>T c.(1765-1767)GCG>GTG p.A589V NPAS3_uc001wrs.2_Missense_Mutation_p.A576V|NPAS3_uc001wrt.2_Missense_Mutation_p.A557V|NPAS3_uc001wrv.2_Missense_Mutation_p.A559V NM_173159 NP_071406 Q8IXF0 NPAS3_HUMAN neuronal PAS domain protein 3 isoform 3 589 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|signal transducer activity ovary(1)|skin(1) 2 Breast(36;0.0102)|Hepatocellular(127;0.133) LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968) GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115) GCAGGCGAGGCGGGCGCGCAG 0.687 NA 5 17 0 0 0 0 KCNH5 27133 broad.mit.edu 37 14 63453789 63453789 + Splice_Site SNP C C A TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr14:63453789C>A uc001xfx.2 - 5 600 c.549_splice c.e5+1 p.E183_splice KCNH5_uc001xfy.2_Splice_Site_p.E183_splice|KCNH5_uc001xfz.1_Splice_Site_p.E125_splice|KCNH5_uc001xga.2_Splice_Site_p.E125_splice NM_139318 NP_647479 Q8NCM2 KCNH5_HUMAN potassium voltage-gated channel, subfamily H, regulation of transcription, DNA-dependent integral to membrane calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity ovary(4)|skin(4)|central_nervous_system(1) 9 OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168) CTCATACTTACTTCAGCTAGT 0.378 NA 27 66 7.68e-24 1.13e-23 1 0 FNTB 2342 broad.mit.edu 37 14 65511158 65511158 + Missense_Mutation SNP C C G TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr14:65511158C>G uc001xia.2 + 9 1117 c.952C>G c.(952-954)CAA>GAA p.Q318E FNTB_uc010tsl.1_Missense_Mutation_p.Q352E|FNTB_uc010tsm.1_Missense_Mutation_p.Q272E|MAX_uc001xic.1_Intron|FNTB_uc001xid.2_Missense_Mutation_p.Q74E|FNTB_uc010tso.1_Missense_Mutation_p.Q233E NM_002028 NP_002019 P49356 FNTB_HUMAN farnesyltransferase, CAAX box, beta 318 protein farnesylation microtubule associated complex protein binding|protein farnesyltransferase activity ovary(1) 1 all cancers(60;0.00115)|OV - Ovarian serous cystadenocarcinoma(108;0.00412)|BRCA - Breast invasive adenocarcinoma(234;0.011) ACTGCACGCCCAAGGTGAGCC 0.592 NA 28 96 0 0 0 0 SLC10A1 6554 broad.mit.edu 37 14 70263521 70263521 + Missense_Mutation SNP G G A TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr14:70263521G>A uc001xlr.2 - 1 486 c.352C>T c.(352-354)CTC>TTC p.L118F NM_003049 NP_003040 Q14973 NTCP_HUMAN solute carrier family 10, member 1 118 bile acid metabolic process|organic anion transport integral to plasma membrane bile acid:sodium symporter activity ovary(1) 1 all cancers(60;0.00228)|BRCA - Breast invasive adenocarcinoma(234;0.0137)|OV - Ovarian serous cystadenocarcinoma(108;0.0226) GCCTACCTGAGGTTCATGTCC 0.547 NA 10 24 0 0 0 0 MED6 10001 broad.mit.edu 37 14 71058033 71058034 + Missense_Mutation DNP CC CC TA rs149635535 TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr14:71058033_71058034CC>TA uc001xmf.2 - 6 561_562 c.531_532GG>TA c.(529-534)GTGGAT>GTTAAT p.D178N MED6_uc010tth.1_Missense_Mutation_p.D185N|MED6_uc010tti.1_Intron NM_005466 NP_005457 O75586 MED6_HUMAN mediator of RNA polymerase II transcription, 178 positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent mediator complex transcription coactivator activity 0 all cancers(60;0.00315)|BRCA - Breast invasive adenocarcinoma(234;0.00685)|OV - Ovarian serous cystadenocarcinoma(108;0.0352) AGTAAAGCATCCACACGTTGTC 0.351 NA 14 39 0 0 0 0 FBLN5 10516 broad.mit.edu 37 14 92349360 92349360 + Missense_Mutation SNP C C G TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr14:92349360C>G uc001xzx.3 - 8 1273 c.800G>C c.(799-801)GGC>GCC p.G267A FBLN5_uc010aud.2_Missense_Mutation_p.G272A|FBLN5_uc010aue.2_Missense_Mutation_p.G308A NM_006329 NP_006320 Q9UBX5 FBLN5_HUMAN fibulin 5 precursor 267 EGF-like 5; calcium-binding (Potential). cell-matrix adhesion|elastic fiber assembly|protein localization at cell surface|regulation of removal of superoxide radicals extracellular space|proteinaceous extracellular matrix|soluble fraction calcium ion binding|integrin binding|protein C-terminus binding ovary(3)|upper_aerodigestive_tract(1)|lung(1)|skin(1) 6 all_cancers(154;0.0722) GAAGTATGTGCCGGGCTGGTT 0.567 NA 23 74 0 0 0 0 C14orf49 161176 broad.mit.edu 37 14 95942074 95942074 + Missense_Mutation SNP C C G TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr14:95942074C>G uc001yei.3 - 1 100 c.85G>C c.(85-87)GTC>CTC p.V29L C14orf49_uc010avi.2_Missense_Mutation_p.V29L|C14orf49_uc001yej.1_Missense_Mutation_p.V29L NM_152592 NP_689805 Q6ZMZ3 SYNE3_HUMAN nesprin-3 29 Cytoplasmic (Potential). cytoskeletal anchoring at nuclear membrane integral to membrane|nuclear outer membrane|SUN-KASH complex actin binding central_nervous_system(1) 1 all_cancers(154;0.0937) COAD - Colon adenocarcinoma(157;0.245) TTGTCATTGACCTGCAGCTGG 0.652 NA 5 16 0 0 0 0 WDR25 79446 broad.mit.edu 37 14 100934422 100934422 + Missense_Mutation SNP G G C TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr14:100934422G>C uc010avx.2 + 3 980 c.887G>C c.(886-888)CGG>CCG p.R296P WDR25_uc001yhm.2_Missense_Mutation_p.R288P|WDR25_uc001yhn.2_Missense_Mutation_p.R296P|WDR25_uc010avy.2_Intron|WDR25_uc001yho.2_Missense_Mutation_p.R39P NM_001161476 NP_001154948 Q64LD2 WDR25_HUMAN WD repeat domain 25 296 WD 2. 0 Melanoma(154;0.212) GAGGCAGTGCGGGCCGCCCGG 0.617 NA 37 125 0 0 0 0 KIF26A 26153 broad.mit.edu 37 14 104640109 104640109 + Missense_Mutation SNP C C T TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr14:104640109C>T uc001yos.3 + 10 1934 c.1934C>T c.(1933-1935)GCC>GTC p.A645V NM_015656 NP_056471 Q9ULI4 KI26A_HUMAN kinesin family member 26A 645 Kinesin-motor. blood coagulation|enteric nervous system development|microtubule-based movement|negative regulation of signal transduction|regulation of cell growth by extracellular stimulus cytosol|microtubule ATP binding|microtubule binding|microtubule motor activity pancreas(1) 1 all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767) Epithelial(46;0.152) Epithelial(152;0.161) GCTGGCAGGGCCGGGGAGGCT 0.667 NA 12 30 0 0 0 0 MAGEL2 54551 broad.mit.edu 37 15 23889144 23889144 + Missense_Mutation SNP C C A TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr15:23889144C>A uc001ywj.3 - 1 2032 c.1937G>T c.(1936-1938)CGC>CTC p.R646L NM_019066 NP_061939 MAGE-like protein 2 0 all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14) all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177) CACCTATTAGCGGGGAGGGGG 0.582 NA 3 27 0.004672 0.00506539 1 0 TJP1 7082 broad.mit.edu 37 15 30003139 30003139 + Missense_Mutation SNP T T A TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr15:30003139T>A uc001zcr.2 - 24 4743 c.4268A>T c.(4267-4269)CAG>CTG p.Q1423L TJP1_uc010azl.2_Missense_Mutation_p.Q1411L|TJP1_uc001zcq.2_Missense_Mutation_p.Q1347L|TJP1_uc001zcs.2_Missense_Mutation_p.Q1343L NM_003257 NP_003248 Q07157 ZO1_HUMAN tight junction protein 1 isoform a 1423 cell-cell junction assembly|cellular component disassembly involved in apoptosis basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction ovary(4)|central_nervous_system(1)|pancreas(1) 6 all_lung(180;7.48e-11)|Breast(32;0.000153) all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186) GGGAGTGGCCTGGATGGGTTC 0.522 NA 74 163 0 0 0 0 RYR3 6263 broad.mit.edu 37 15 34078040 34078040 + Missense_Mutation SNP G G A TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr15:34078040G>A uc001zhi.2 + 66 9516 c.9446G>A c.(9445-9447)GGT>GAT p.G3149D RYR3_uc010bar.2_Missense_Mutation_p.G3149D NM_001036 NP_001027 Q15413 RYR3_HUMAN ryanodine receptor 3 3149 cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity ovary(5)|central_nervous_system(4)|lung(1) 10 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) TGGGAGCGGGGTCCTGAGAAC 0.572 NA 76 186 0 0 0 0 MAPKBP1 23005 broad.mit.edu 37 15 42113133 42113133 + Missense_Mutation SNP C C T TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr15:42113133C>T uc001zok.3 + 24 2889 c.2603C>T c.(2602-2604)TCC>TTC p.S868F MAPKBP1_uc001zoj.3_Missense_Mutation_p.S862F|MAPKBP1_uc010bcj.2_Missense_Mutation_p.S369F|MAPKBP1_uc010bci.2_Missense_Mutation_p.S862F|MAPKBP1_uc010udb.1_Missense_Mutation_p.S701F|MAPKBP1_uc010bck.2_Missense_Mutation_p.S79F|MAPKBP1_uc010bcl.2_Missense_Mutation_p.S369F NM_001128608 NP_001122080 O60336 MABP1_HUMAN mitogen-activated protein kinase binding protein 868 central_nervous_system(5)|breast(2)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1) 10 all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262) OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225) AGCGTTAGATCCATGCTGGAT 0.627 NA 14 32 0 0 0 0 SPG11 80208 broad.mit.edu 37 15 44921518 44921518 + Nonsense_Mutation SNP G G A TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr15:44921518G>A uc001ztx.2 - 9 1835 c.1804C>T c.(1804-1806)CAA>TAA p.Q602* SPG11_uc010ueh.1_Nonsense_Mutation_p.Q602*|SPG11_uc010uei.1_Nonsense_Mutation_p.Q602*|SPG11_uc001zua.1_Nonsense_Mutation_p.Q602* NM_025137 NP_079413 Q96JI7 SPTCS_HUMAN spatacsin isoform 1 602 Extracellular (Potential). cell death cytosol|integral to membrane|nucleus protein binding ovary(4)|skin(1) 5 all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122) all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214) TGTTTGCTTTGGGGTTCAGAA 0.358 NA 16 44 0 0 0 0 SQRDL 58472 broad.mit.edu 37 15 45965859 45965859 + Missense_Mutation SNP G G C TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr15:45965859G>C uc001zvt.2 + 6 703 c.514G>C c.(514-516)GTT>CTT p.V172L SQRDL_uc001zvu.2_Missense_Mutation_p.V172L|SQRDL_uc001zvv.2_Missense_Mutation_p.V172L NM_021199 NP_067022 Q9Y6N5 SQRD_HUMAN sulfide dehydrogenase like precursor 172 oxidoreductase activity ovary(1) 1 Lung NSC(122;0.000117)|all_lung(180;0.000737)|Melanoma(134;0.0417) all cancers(107;5.89e-18)|GBM - Glioblastoma multiforme(94;1.21e-06)|COAD - Colon adenocarcinoma(120;0.17)|Colorectal(133;0.188) GAATTATTCAGTTAAGACTGT 0.418 NA 45 93 0 0 0 0 SLC24A5 283652 broad.mit.edu 37 15 48429025 48429025 + Missense_Mutation SNP C C T TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr15:48429025C>T uc001zwe.2 + 6 809 c.736C>T c.(736-738)CCA>TCA p.P246S SLC24A5_uc010bel.2_Missense_Mutation_p.P186S|uc001zwf.1_5'Flank NM_205850 NP_995322 Q71RS6 NCKX5_HUMAN solute carrier family 24, member 5 precursor 246 Cytoplasmic (Potential). response to stimulus integral to membrane|melanosome|plasma membrane calcium, potassium:sodium antiporter activity|symporter activity 0 all_lung(180;0.00217) all cancers(107;3.29e-10)|GBM - Glioblastoma multiforme(94;7.32e-07) TGAACAACAGCCACTGATGGG 0.418 NA 11 27 0 0 0 0 UNC13C 440279 broad.mit.edu 37 15 54860126 54860126 + Missense_Mutation SNP A A G TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr15:54860126A>G uc002ack.2 + 28 6087 c.6087A>G c.(6085-6087)ATA>ATG p.I2029M NM_001080534 NP_001074003 Q8NB66 UN13C_HUMAN unc-13 homolog C 2029 exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding ovary(5)|pancreas(2) 7 GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124) AGAAATTCATAGATACTCAAA 0.328 NA 3 6 0 0 0 0 GCOM1 145781 broad.mit.edu 37 15 57953656 57953656 + Silent SNP A A G TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr15:57953656A>G uc002aei.2 + 11 1247 c.1128A>G c.(1126-1128)TCA>TCG p.S376S GCOM1_uc002aej.2_Intron|GCOM1_uc002aek.2_Intron|GCOM1_uc002ael.2_RNA|GCOM1_uc002aem.2_Silent_p.S376S|GCOM1_uc002aeq.2_RNA|GCOM1_uc002aen.2_RNA|GCOM1_uc010bfy.2_Intron|GCOM1_uc002aeo.2_Silent_p.S376S|GCOM1_uc002aep.2_Intron|GCOM1_uc010bfx.2_RNA NM_001018100 NP_001018110 P0CAP1 GCOM1_HUMAN GRINL1A upstream protein isoform 7 376 Potential. intracellular signal transduction extrinsic to internal side of plasma membrane|I band ovary(1) 1 AGATTGAATCATTAAAGAAAA 0.318 NA 6 24 0 0 0 0 VPS13C 54832 broad.mit.edu 37 15 62302756 62302756 + Missense_Mutation SNP G G A TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr15:62302756G>A uc002agz.2 - 13 1000 c.926C>T c.(925-927)CCT>CTT p.P309L VPS13C_uc002aha.2_Missense_Mutation_p.P266L|VPS13C_uc002ahb.1_Missense_Mutation_p.P309L|VPS13C_uc002ahc.1_Missense_Mutation_p.P266L NM_020821 NP_065872 Q709C8 VP13C_HUMAN vacuolar protein sorting 13C protein isoform 2A 309 protein localization ovary(2) 2 TTCTGCATAAGGATTCATGTA 0.373 NA 22 65 0 0 0 0 KIAA0101 9768 broad.mit.edu 37 15 64673546 64673546 + Missense_Mutation SNP C C T TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr15:64673546C>T uc002ank.2 - 1 157 c.25G>A c.(25-27)GTT>ATT p.V9I KIAA0101_uc002anl.2_Missense_Mutation_p.V9I NM_014736 NP_055551 Q15004 PAF_HUMAN hypothetical protein LOC9768 isoform 1 9 mitochondrion|nucleus central_nervous_system(1) 1 GTGCCTGGAACACTGTCTGCT 0.592 NA 61 256 0 0 0 0 ANKDD1A 348094 broad.mit.edu 37 15 65239631 65239631 + Missense_Mutation SNP C C A TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr15:65239631C>A uc002aoa.2 + 13 1198 c.1169C>A c.(1168-1170)CCC>CAC p.P390H ANKDD1A_uc002aoc.2_RNA|ANKDD1A_uc010bha.2_Missense_Mutation_p.P267H NM_182703 NP_874362 Q495B1 AKD1A_HUMAN ankyrin repeat and death domain containing 1A 390 signal transduction ovary(1) 1 CAGGACCACCCCAGTGATCCC 0.607 NA 8 26 0.00307968 0.00337414 1 0 IGDCC4 57722 broad.mit.edu 37 15 65676728 65676728 + Silent SNP G G T TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr15:65676728G>T uc002aou.1 - 20 3582 c.3372C>A c.(3370-3372)GCC>GCA p.A1124A IGDCC4_uc002aot.1_Silent_p.A712A NM_020962 NP_066013 Q8TDY8 IGDC4_HUMAN immunoglobulin superfamily, DCC subclass, member 1124 Cytoplasmic (Potential). integral to membrane|plasma membrane ovary(1)|pancreas(1)|skin(1) 3 GGTTCCTGCAGGCTGGGGGTG 0.522 NA 98 123 5.66e-50 8.63e-50 1 0 SLC24A1 9187 broad.mit.edu 37 15 65916538 65916538 + Silent SNP C C T TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr15:65916538C>T uc010ujf.1 + 2 407 c.120C>T c.(118-120)CAC>CAT p.H40H SLC24A1_uc010ujd.1_Silent_p.H40H|SLC24A1_uc010uje.1_Silent_p.H40H|SLC24A1_uc010ujg.1_Silent_p.H40H|SLC24A1_uc010ujh.1_Silent_p.H40H NM_004727 NP_004718 O60721 NCKX1_HUMAN solute carrier family 24 40 Extracellular (Potential). response to light intensity|visual perception integral to plasma membrane|membrane fraction|outer membrane calcium, potassium:sodium antiporter activity|protein binding|symporter activity 0 CTTATCAGCACCTTAGGAGAC 0.532 NA 20 89 0 0 0 0 TBC1D21 161514 broad.mit.edu 37 15 74178913 74178913 + Missense_Mutation SNP G G T TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr15:74178913G>T uc002avz.2 + 8 820 c.737G>T c.(736-738)CGT>CTT p.R246L TBC1D21_uc010ulc.1_Missense_Mutation_p.R210L NM_153356 NP_699187 Q8IYX1 TBC21_HUMAN TBC1 domain family, member 21 246 Rab-GAP TBC. intracellular Rab GTPase activator activity ovary(2) 2 TGCTTCCAGCGTGCCTTCAAG 0.592 NA 33 58 3.21e-22 4.72e-22 1 0 CSK 1445 broad.mit.edu 37 15 75090969 75090969 + Missense_Mutation SNP C C T TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr15:75090969C>T uc010bkb.1 + 4 212 c.29C>T c.(28-30)TCC>TTC p.S10F CSK_uc010bka.2_Silent_p.I80I|CSK_uc002ays.2_Missense_Mutation_p.S10F|CSK_uc010bkc.1_5'Flank NM_001127190 NP_001120662 P41240 CSK_HUMAN c-src tyrosine kinase 10 Interaction with PTPN8 (By similarity).|SH3. blood coagulation|epidermal growth factor receptor signaling pathway|T cell costimulation|T cell receptor signaling pathway centrosome|cytosol|Golgi apparatus ATP binding|non-membrane spanning protein tyrosine kinase activity|protein C-terminus binding lung(2)|central_nervous_system(1) 3 GCCTGGCCATCCGGTACAGAA 0.642 NA 20 23 0 0 0 0 MAN2C1 4123 broad.mit.edu 37 15 75648457 75648457 + Missense_Mutation SNP G G C TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr15:75648457G>C uc002baf.2 - 25 3007 c.2990C>G c.(2989-2991)GCC>GGC p.A997G MIR631_hsa-mir-631|MI0003645_5'Flank|MAN2C1_uc002bag.2_Missense_Mutation_p.A974G|MAN2C1_uc002bah.2_Missense_Mutation_p.A1014G|MAN2C1_uc010bkk.2_Missense_Mutation_p.A898G NM_006715 NP_006706 Q9NTJ4 MA2C1_HUMAN mannosidase, alpha, class 2C, member 1 997 mannose metabolic process alpha-mannosidase activity|carbohydrate binding|protein binding|zinc ion binding 0 TCACAGGATGGCCTCCTGAAC 0.672 NA 10 49 0 0 0 0 NRG4 145957 broad.mit.edu 37 15 76254225 76254225 + Silent SNP A A G TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr15:76254225A>G uc002bbo.2 - 4 379 c.195T>C c.(193-195)TTT>TTC p.F65F NRG4_uc010bkm.1_RNA|NRG4_uc002bbn.2_RNA|NRG4_uc010bkn.2_RNA|NRG4_uc010bko.2_RNA|NRG4_uc002bbp.2_RNA NM_138573 NP_612640 Q8WWG1 NRG4_HUMAN neuregulin 4 65 Helical; Note=Internal signal sequence; (Potential). extracellular region|integral to membrane|plasma membrane growth factor activity 0 CCAATGCCACAAAAGCTTCAA 0.393 NA 100 97 0 0 0 0 AP3B2 8120 broad.mit.edu 37 15 83328416 83328417 + Silent DNP GG GG AT TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr15:83328416_83328417GG>AT uc010uoh.1 - 26 3321_3322 c.3144_3145CC>AT c.(3142-3147)ACCCTG>ACATTG p.1048_1049TL>TL AP3B2_uc010uoi.1_Silent_p.1067_1068TL>TL|AP3B2_uc010uoj.1_Silent_p.1016_1017TL>TL|AP3B2_uc010bmp.2_Silent_p.111_112TL>TL|AP3B2_uc010uog.1_Silent_p.684_685TL>TL NM_004644 NP_004635 Q13367 AP3B2_HUMAN adaptor-related protein complex 3, beta 2 1048_1049 endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport clathrin coated vesicle membrane|COPI-coated vesicle|membrane coat binding|protein transporter activity ovary(3)|breast(1)|pancreas(1) 5 BRCA - Breast invasive adenocarcinoma(143;0.229) CGGGCATCCAGGGTCAGCAGAA 0.559 NA 14 43 0 0 0 0 NMB 4828 broad.mit.edu 37 15 85200448 85200448 + Missense_Mutation SNP C C G TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr15:85200448C>G uc002bkz.2 - 2 708 c.289G>C c.(289-291)GCT>CCT p.A97P WDR73_uc002bkw.2_5'Flank|WDR73_uc002bkx.2_5'Flank|WDR73_uc010upa.1_5'Flank|NMB_uc002bla.2_Missense_Mutation_p.A97P NM_021077 NP_066563 P08949 NMB_HUMAN neuromedin B isoform 1 97 cell-cell signaling|neuropeptide signaling pathway extracellular region|soluble fraction hormone activity 0 all cancers(203;3.5e-06) ACGCCCAGAGCCTTCTTTAGC 0.652 NA 13 19 0 0 0 0 SLC28A1 9154 broad.mit.edu 37 15 85488082 85488082 + Missense_Mutation SNP C C T TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr15:85488082C>T uc002blg.2 + 18 2060 c.1858C>T c.(1858-1860)CGT>TGT p.R620C SLC28A1_uc010bnb.2_Missense_Mutation_p.R620C|SLC28A1_uc010upe.1_Missense_Mutation_p.R454C|SLC28A1_uc010upf.1_Missense_Mutation_p.R620C|SLC28A1_uc010upg.1_Intron NM_004213 NP_004204 O00337 S28A1_HUMAN solute carrier family 28, member 1 isoform 1 620 nucleobase, nucleoside and nucleotide metabolic process integral to plasma membrane|membrane fraction nucleoside binding skin(2)|ovary(1) 3 BRCA - Breast invasive adenocarcinoma(143;0.0587) CCAGTGCTGCCGTGAGGCCTT 0.592 NA 36 54 0 0 0 0 KLHL25 64410 broad.mit.edu 37 15 86312264 86312264 + Nonsense_Mutation SNP C C A TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr15:86312264C>A uc002bly.2 - 2 981 c.778G>T c.(778-780)GAG>TAG p.E260* NM_022480 NP_071925 Q9H0H3 ENC2_HUMAN BTB/POZ KELCH domain protein 260 cytoplasm ovary(2) 2 TTGGTGCGCTCGTCTGCCATG 0.667 NA 17 26 0.00074312 0.000830194 1 0 NTRK3 4916 broad.mit.edu 37 15 88679705 88679705 + Missense_Mutation SNP G G T TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr15:88679705G>T uc002bme.1 - 7 920 c.758C>A c.(757-759)ACT>AAT p.T253N NTRK3_uc002bmh.2_Missense_Mutation_p.T253N|NTRK3_uc002bmf.1_Missense_Mutation_p.T253N|NTRK3_uc010upl.1_Missense_Mutation_p.T155N|NTRK3_uc010bnh.1_Missense_Mutation_p.T253N|NTRK3_uc002bmg.2_Missense_Mutation_p.T253N NM_001012338 NP_001012338 Q16288 NTRK3_HUMAN neurotrophic tyrosine kinase, receptor, type 3 253 Ig-like C2-type 1.|Extracellular (Potential). transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity ETV6/NTRK3(234) soft_tissue(85)|kidney(66)|breast(56)|salivary_gland(26)|lung(22)|large_intestine(6)|ovary(6)|stomach(5)|central_nervous_system(3)|pancreas(3)|haematopoietic_and_lymphoid_tissue(2)|skin(1) 281 BRCA - Breast invasive adenocarcinoma(143;0.211) TACCTGGTGAGTGTTGATGGA 0.517 NA T ETV6 congenital fibrosarcoma|Secretory breast TSP Lung(13;0.10) 10 46 7.48e-07 9.15e-07 1 0 HAPLN3 145864 broad.mit.edu 37 15 89424727 89424727 + Silent SNP G G A TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr15:89424727G>A uc002bnc.2 - 3 482 c.354C>T c.(352-354)CGC>CGT p.R118R HAPLN3_uc002bne.2_RNA|HAPLN3_uc002bnd.2_Silent_p.R180R NM_178232 NP_839946 Q96S86 HPLN3_HUMAN hyaluronan and proteoglycan link protein 3 118 Ig-like V-type. cell adhesion proteinaceous extracellular matrix hyaluronic acid binding 0 Lung NSC(78;0.0392)|all_lung(78;0.077) GCAGGTGCACGCGGCCTTGGT 0.627 NA 12 135 0 0 0 0 TARSL2 123283 broad.mit.edu 37 15 102201966 102201966 + Missense_Mutation SNP C C G TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr15:102201966C>G uc002bxm.2 - 16 2076 c.2021G>C c.(2020-2022)GGA>GCA p.G674A TARSL2_uc002bxl.2_Missense_Mutation_p.G219A|TARSL2_uc010usi.1_RNA NM_152334 NP_689547 A2RTX5 SYTC2_HUMAN threonyl-tRNA synthetase-like 2 674 threonyl-tRNA aminoacylation cytoplasm ATP binding|threonine-tRNA ligase activity ovary(2) 2 Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505) OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23) TTCCACTGATCCCAAAATGGC 0.303 NA 7 41 0 0 0 0 CASKIN1 57524 broad.mit.edu 37 16 2235118 2235118 + Silent SNP G G T TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr16:2235118G>T uc010bsg.1 - 12 1265 c.1233C>A c.(1231-1233)GGC>GGA p.G411G NM_020764 NP_065815 Q8WXD9 CSKI1_HUMAN CASK interacting protein 1 411 CASK-binding (By similarity). signal transduction cytoplasm skin(2) 2 CTACCTTGACGCCTTCAGAGC 0.687 NA 8 20 0.000157383 0.000179846 1 0 NUBP1 4682 broad.mit.edu 37 16 10861862 10861862 + Missense_Mutation SNP A A T TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr16:10861862A>T uc002daa.1 + 10 900 c.877A>T c.(877-879)ACG>TCG p.T293S FAM18A_uc010uyr.1_Intron|FAM18A_uc010uys.1_Intron|FAM18A_uc010uyt.1_Intron|FAM18A_uc010bun.2_Intron|FAM18A_uc010uyu.1_Intron|FAM18A_uc002dad.3_Intron|FAM18A_uc010buo.1_3'UTR|FAM18A_uc002daf.1_RNA|NUBP1_uc002dab.1_Missense_Mutation_p.T282S|FAM18A_uc002dae.1_3'UTR NM_002484 NP_002475 P53384 NUBP1_HUMAN nucleotide binding protein 1 293 cell growth|cellular iron ion homeostasis|iron-sulfur cluster assembly cytosol 4 iron, 4 sulfur cluster binding|ATP binding|metal ion binding|nucleoside-triphosphatase activity|protein binding ovary(1)|skin(1) 2 TTCCCCAGCCACGTTAGCCTA 0.438 NA 40 31 0 0 0 0 ACSM5 54988 broad.mit.edu 37 16 20430566 20430566 + Silent SNP G G T TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr16:20430566G>T uc002dhe.2 + 4 579 c.432G>T c.(430-432)CCG>CCT p.P144P ACSM5_uc002dhd.1_Silent_p.P144P NM_017888 NP_060358 Q6NUN0 ACSM5_HUMAN acyl-CoA synthetase medium-chain family member 5 144 fatty acid metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding ovary(2) 2 TGATGATTCCGGGTGTGACTC 0.552 NA 20 46 8.1e-08 1.02e-07 1 0 TNRC6A 27327 broad.mit.edu 37 16 24816384 24816384 + Missense_Mutation SNP G G A TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr16:24816384G>A uc002dmm.2 + 14 4148 c.4034G>A c.(4033-4035)CGG>CAG p.R1345Q TNRC6A_uc010bxs.2_Missense_Mutation_p.R1092Q|TNRC6A_uc002dmn.2_Missense_Mutation_p.R1043Q|TNRC6A_uc002dmo.2_Missense_Mutation_p.R984Q|TNRC6A_uc002dmp.2_5'UTR|TNRC6A_uc002dmq.2_Missense_Mutation_p.R12Q NM_014494 NP_055309 Q8NDV7 TNR6A_HUMAN trinucleotide repeat containing 6A 1345 negative regulation of translation involved in gene silencing by miRNA cytoplasmic mRNA processing body|micro-ribonucleoprotein complex nucleotide binding|RNA binding ovary(2) 2 GBM - Glioblastoma multiforme(48;0.0394) GCACAACCCCGGGGCATGCAG 0.473 NA 63 58 0 0 0 0 ZNF48 197407 broad.mit.edu 37 16 30408665 30408665 + Missense_Mutation SNP A A T TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr16:30408665A>T uc002dya.1 + 2 153 c.94A>T c.(94-96)AAC>TAC p.N32Y ZNF48_uc002dxz.1_5'UTR NM_152652 NP_689865 Q96MX3 ZNF48_HUMAN zinc finger protein 48 32 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 AGGGAGTGAGAACGTGATTTC 0.473 NA 28 85 0 0 0 0 NOD2 64127 broad.mit.edu 37 16 50745419 50745419 + Nonsense_Mutation SNP C C T rs147417132 TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr16:50745419C>T uc002egm.1 + 4 1702 c.1597C>T c.(1597-1599)CAA>TAA p.Q533* NOD2_uc010cbk.1_Nonsense_Mutation_p.Q506*|NOD2_uc002egl.1_Nonsense_Mutation_p.Q311*|NOD2_uc010cbl.1_Nonsense_Mutation_p.Q311*|NOD2_uc010cbm.1_Nonsense_Mutation_p.Q311*|NOD2_uc010cbn.1_RNA|NOD2_uc010cbo.1_RNA|NOD2_uc010cbp.1_5'Flank|NOD2_uc010cbq.1_5'Flank|NOD2_uc010cbr.1_5'Flank NM_022162 NP_071445 Q9HC29 NOD2_HUMAN nucleotide-binding oligomerization domain 533 NACHT. activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cell surface|cytosol|plasma membrane|vesicle ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding ovary(3)|skin(1) 4 all_cancers(37;0.0156) CTCAGCTTCCCAAGGTCTGGG 0.617 NA 30 39 0 0 0 0 ZFHX3 463 broad.mit.edu 37 16 72991344 72991344 + Missense_Mutation SNP C C G rs148024459 by1000genomes TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr16:72991344C>G uc002fck.2 - 2 3374 c.2701G>C c.(2701-2703)GCC>CCC p.A901P ZFHX3_uc002fcl.2_Intron NM_006885 NP_008816 Q15911 ZFHX3_HUMAN zinc finger homeobox 3 isoform A 901 muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation transcription factor complex enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding ovary(2)|skin(2) 4 Ovarian(137;0.13) GGCGTCATGGCGGCCATGGGC 0.547 NA 59 42 0 0 0 0 FOXC2 2303 broad.mit.edu 37 16 86602395 86602395 + Missense_Mutation SNP C C A TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr16:86602395C>A uc002fjq.2 + 1 1539 c.1454C>A c.(1453-1455)CCG>CAG p.P485Q NM_005251 NP_005242 Q99958 FOXC2_HUMAN forkhead box C2 485 anti-apoptosis|artery morphogenesis|blood vessel remodeling|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|embryonic viscerocranium morphogenesis|insulin receptor signaling pathway|lymphangiogenesis|metanephros development|negative regulation of transcription from RNA polymerase II promoter|neural crest cell fate commitment|Notch signaling pathway|ossification|paraxial mesodermal cell fate commitment|patterning of blood vessels|positive regulation of cell adhesion mediated by integrin|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of vascular wound healing|regulation of blood vessel size|regulation of organ growth|regulation of sequence-specific DNA binding transcription factor activity|somitogenesis|ureteric bud development|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis transcription factor complex chromatin DNA binding|DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding|transcription regulatory region DNA binding 0 AGATCCACGCCGCCTCTCTAT 0.647 NA Late-onset_Hereditary_Lymphedema 39 25 8.16e-20 1.19e-19 1 0 MYO1C 4641 broad.mit.edu 37 17 1381744 1381744 + Missense_Mutation SNP G G A TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr17:1381744G>A uc002fsp.2 - 11 1475 c.1255C>T c.(1255-1257)CTC>TTC p.L419F MYO1C_uc002fsn.2_Missense_Mutation_p.L400F|MYO1C_uc002fso.2_Missense_Mutation_p.L384F|MYO1C_uc010vqj.1_Missense_Mutation_p.L384F|MYO1C_uc010vqk.1_Missense_Mutation_p.L395F NM_001080779 NP_001074248 O00159 MYO1C_HUMAN myosin IC isoform a 419 Myosin head-like. mRNA transport|protein transport|transmembrane transport basal plasma membrane|cytoplasm|filamentous actin|lateral plasma membrane|nuclear pore|nucleolus|nucleoplasm|stereocilium membrane actin binding|ATP binding|calmodulin binding|motor activity 0 UCEC - Uterine corpus endometrioid carcinoma (25;0.0822) ATATCCAGGAGCCCGAGAACC 0.622 NA 25 45 0 0 0 0 C17orf81 23587 broad.mit.edu 37 17 7160292 7160292 + Missense_Mutation SNP G G T rs147755585 TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr17:7160292G>T uc002gfg.1 + 6 681 c.574G>T c.(574-576)GGT>TGT p.G192C C17orf81_uc002gfj.2_Missense_Mutation_p.G192C|C17orf81_uc010cmb.2_Missense_Mutation_p.G192C|C17orf81_uc002gfh.1_Missense_Mutation_p.G192C|C17orf81_uc002gfi.1_Missense_Mutation_p.G192C|C17orf81_uc002gfl.1_Missense_Mutation_p.G192C NM_203415 NP_981960 Q8TE02 DERP6_HUMAN S-phase 2 protein isoform 4 192 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus protein binding 0 GACCCTGGGCGGTACCATGGG 0.617 NA 15 21 6.32e-08 7.93e-08 1 0 MYH4 4622 broad.mit.edu 37 17 10355578 10355578 + Missense_Mutation SNP G G T TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr17:10355578G>T uc002gmn.2 - 27 3529 c.3418C>A c.(3418-3420)CGC>AGC p.R1140S uc002gml.1_Intron NM_017533 NP_060003 Q9Y623 MYH4_HUMAN myosin, heavy polypeptide 4, skeletal muscle 1140 Potential. muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle ovary(10)|skin(2)|central_nervous_system(1) 13 AGGTCAGAGCGCTGCTTCTCT 0.582 NA 48 72 2.47e-29 3.69e-29 1 0 KIAA0100 9703 broad.mit.edu 37 17 26964893 26964893 + Missense_Mutation SNP C C T TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr17:26964893C>T uc002hbu.2 - 14 1831 c.1732G>A c.(1732-1734)GTC>ATC p.V578I NM_014680 NP_055495 Q14667 K0100_HUMAN hypothetical protein LOC9703 precursor 578 extracellular region ovary(2)|breast(1)|skin(1) 4 Lung NSC(42;0.00431) ATGTCTTCGACCTTCAAGTCC 0.393 NA 17 41 0 0 0 0 ZNF207 7756 broad.mit.edu 37 17 30692368 30692368 + Silent SNP A A T TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr17:30692368A>T uc002hhh.3 + 7 790 c.642A>T c.(640-642)CCA>CCT p.P214P ZNF207_uc002hhj.3_Silent_p.P230P|ZNF207_uc002hhi.3_Silent_p.P230P|ZNF207_uc010csz.2_Silent_p.P233P|ZNF207_uc002hhk.1_Silent_p.P230P|ZNF207_uc002hhl.1_RNA NM_003457 NP_003448 O43670 ZN207_HUMAN zinc finger protein 207 isoform a 214 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 Breast(31;0.116)|Ovarian(249;0.182) BRCA - Breast invasive adenocarcinoma(9;0.239) CACCTGTTCCACGTCCTGGAA 0.458 NA 49 81 0 0 0 0 CCL2 6347 broad.mit.edu 37 17 32582401 32582401 + Silent SNP G G T TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr17:32582401G>T uc002hhy.2 + 1 106 c.33G>T c.(31-33)CTG>CTT p.L11L NM_002982 NP_002973 P13500 CCL2_HUMAN small inducible cytokine A2 precursor 11 angiogenesis|anti-apoptosis|apoptotic cell clearance|astrocyte cell migration|cell adhesion|cellular response to interferon-gamma|cellular response to interleukin-1|cellular response to lipopolysaccharide|cellular response to tumor necrosis factor|G-protein signaling, coupled to cyclic nucleotide second messenger|helper T cell extravasation|humoral immune response|inflammatory response|JAK-STAT cascade|macrophage chemotaxis|monocyte chemotaxis|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of T cell activation|viral genome replication extracellular space CCR2 chemokine receptor binding|chemokine activity|protein kinase activity|signal transducer activity pancreas(1) 1 Breast(3;0.00224) Ovarian(249;0.0694)|Breast(31;0.151)|Lung NSC(157;0.153) UCEC - Uterine corpus endometrioid carcinoma (308;0.000241)|BRCA - Breast invasive adenocarcinoma(366;0.0103) Atorvastatin(DB01076)|Danazol(DB01406)|Mimosine(DB01055)|Simvastatin(DB00641) TGTGCCTGCTGCTCATAGCAG 0.537 NA 7 45 2.01e-06 2.42e-06 1 0 GHDC 84514 broad.mit.edu 37 17 40344951 40344951 + Missense_Mutation SNP G G C TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr17:40344951G>C uc002hzd.2 - 3 844 c.360C>G c.(358-360)AAC>AAG p.N120K GHDC_uc002hzg.1_Missense_Mutation_p.N120K|GHDC_uc010wgg.1_Intron|GHDC_uc002hze.3_Missense_Mutation_p.N120K|GHDC_uc002hzf.3_Missense_Mutation_p.N120K|GHDC_uc010cxz.2_RNA NM_032484 NP_115873 Q8N2G8 GHDC_HUMAN LGP1 homolog isoform 1 120 endoplasmic reticulum|nuclear envelope 0 all_cancers(22;0.000229)|Breast(137;0.00104)|all_epithelial(22;0.00304) BRCA - Breast invasive adenocarcinoma(366;0.124) CAAGGTCCTGGTTTGAGGTCG 0.592 NA 44 120 0 0 0 0 STAT5B 6777 broad.mit.edu 37 17 40368065 40368065 + Silent SNP G G A TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr17:40368065G>A uc002hzh.2 - 12 1609 c.1440C>T c.(1438-1440)GCC>GCT p.A480A NM_012448 NP_036580 P51692 STA5B_HUMAN signal transducer and activator of transcription 480 2-oxoglutarate metabolic process|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|fatty acid metabolic process|isoleucine metabolic process|JAK-STAT cascade involved in growth hormone signaling pathway|oxaloacetate metabolic process|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process cytosol|nucleoplasm calcium ion binding|glucocorticoid receptor binding|sequence-specific DNA binding transcription factor activity ovary(3)|lung(2)|skin(1) 6 all_cancers(22;4.15e-07)|all_epithelial(22;2.83e-05)|Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.135) Dasatinib(DB01254) AGAGAACAGTGGCCGTCGCAT 0.522 NA 12 18 0 0 0 0 RUNDC3A 10900 broad.mit.edu 37 17 42390790 42390790 + Missense_Mutation SNP G G T TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr17:42390790G>T uc002igl.3 + 4 651 c.377G>T c.(376-378)CGG>CTG p.R126L RUNDC3A_uc002igi.2_Missense_Mutation_p.R126L|RUNDC3A_uc002igj.2_Missense_Mutation_p.R121L|RUNDC3A_uc002igk.2_Missense_Mutation_p.R122L NM_001144825 NP_001138297 Q59EK9 RUN3A_HUMAN RUN domain containing 3A isoform 1 126 Interaction with RAP2A (By similarity).|RUN. small GTPase mediated signal transduction small GTPase regulator activity 0 Prostate(33;0.0233) BRCA - Breast invasive adenocarcinoma(366;0.189) TTCCAGGGCCGGGCATGGATC 0.607 NA 13 48 1.62e-10 2.14e-10 1 0 MAPT 4137 broad.mit.edu 37 17 44061110 44061110 + Missense_Mutation SNP G G C TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr17:44061110G>C uc002ijr.3 + 6 1260 c.940G>C c.(940-942)GAG>CAG p.E314Q MAPT_uc010dau.2_Missense_Mutation_p.E314Q|MAPT_uc002ijs.3_Intron|MAPT_uc002ijx.3_Intron|MAPT_uc002ijt.3_Intron|MAPT_uc002iju.3_Intron|MAPT_uc002ijv.3_Intron NM_016835 NP_058519 P10636 TAU_HUMAN microtubule-associated protein tau isoform 1 314 cellular component disassembly involved in apoptosis|microtubule cytoskeleton organization|negative regulation of microtubule depolymerization|positive regulation of axon extension|positive regulation of microtubule polymerization|regulation of autophagy axon|cytosol|growth cone|microtubule|microtubule associated complex|nuclear periphery|plasma membrane|tubulin complex apolipoprotein E binding|enzyme binding|identical protein binding|lipoprotein particle binding|microtubule binding|protein binding|SH3 domain binding|structural constituent of cytoskeleton pancreas(1) 1 Melanoma(429;0.216) CGTGCAGAAGGAGCAGGCGCA 0.647 NA 20 67 0 0 0 0 CHAD 1101 broad.mit.edu 37 17 48545852 48545853 + Missense_Mutation DNP TG TG AT TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr17:48545852_48545853TG>AT uc010dbr.2 - 1 375_376 c.322_323CA>AT c.(322-324)CAT>ATT p.H108I ACSF2_uc002iqu.2_Intron|ACSF2_uc010wml.1_Intron|ACSF2_uc010wmm.1_Intron|ACSF2_uc010wmn.1_Intron|ACSF2_uc010wmo.1_Intron|CHAD_uc010dbs.2_Missense_Mutation_p.H108I|ACSF2_uc010dbt.1_Intron NM_001267 NP_001258 O15335 CHAD_HUMAN chondroadherin precursor 108 LRR 2. regulation of cell growth proteinaceous extracellular matrix extracellular matrix structural constituent ovary(2)|central_nervous_system(1) 3 Breast(11;1.93e-18) BRCA - Breast invasive adenocarcinoma(22;1.55e-09) GATGTCGTTATGGGACAGGTAC 0.629 NA 23 76 0 0 0 0 TRIM25 7706 broad.mit.edu 37 17 54990924 54990924 + Silent SNP G G A TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr17:54990924G>A uc002iut.2 - 1 486 c.426C>T c.(424-426)GAC>GAT p.D142D TRIM25_uc010dcj.2_5'UTR NM_005082 NP_005073 Q14258 TRI25_HUMAN tripartite motif-containing 25 142 innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|response to virus cell junction|cytosol|nucleus sequence-specific DNA binding transcription factor activity|ubiquitin-protein ligase activity|zinc ion binding lung(1)|breast(1)|skin(1) 3 Breast(9;6.15e-08) GCAGCGGGTGGTCCTGGAAGG 0.637 NA 19 29 0 0 0 0 ACE 1636 broad.mit.edu 37 17 61566111 61566111 + Missense_Mutation SNP C C A TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr17:61566111C>A uc002jau.1 + 16 2430 c.2408C>A c.(2407-2409)CCG>CAG p.P803Q ACE_uc002jav.1_Missense_Mutation_p.P229Q|ACE_uc010ddv.1_Missense_Mutation_p.P30Q|ACE_uc010wpj.1_Missense_Mutation_p.P229Q|ACE_uc002jaw.1_RNA|ACE_uc010wpk.1_Missense_Mutation_p.P113Q NM_000789 NP_000780 P12821 ACE_HUMAN angiotensin I converting enzyme 1 isoform 1 803 Extracellular (Potential).|Peptidase M2 2. arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding ovary(2)|upper_aerodigestive_tract(1)|pancreas(1) 4 Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519) CAGTTTTACCCGAAATACGTG 0.552 NA 11 58 0.000673444 0.000753027 1 0 ERN1 2081 broad.mit.edu 37 17 62121439 62121439 + Missense_Mutation SNP A A G TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr17:62121439A>G uc002jdz.2 - 22 2956 c.2843T>C c.(2842-2844)ATG>ACG p.M948T uc002jdy.1_5'Flank NM_001433 NP_001424 O75460 ERN1_HUMAN endoplasmic reticulum to nucleus signalling 1 948 Cytoplasmic (Potential).|KEN. activation of signaling protein activity involved in unfolded protein response|apoptosis|cell cycle arrest|induction of apoptosis|mRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to endoplasmic reticulum membrane ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein binding|protein serine/threonine kinase activity central_nervous_system(4)|lung(2)|stomach(1)|ovary(1)|kidney(1) 9 GCACAGCTCCATGGCCCGGTA 0.662 NA 41 104 0 0 0 0 KPNA2 3838 broad.mit.edu 37 17 66040510 66040510 + Missense_Mutation SNP T T A TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr17:66040510T>A uc002jgk.2 + 9 1370 c.1238T>A c.(1237-1239)ATT>AAT p.I413N KPNA2_uc002jgl.2_Missense_Mutation_p.I413N NM_002266 NP_002257 P52292 IMA2_HUMAN karyopherin alpha 2 413 ARM 9. DNA metabolic process|G2 phase of mitotic cell cycle|interspecies interaction between organisms|M phase specific microtubule process|NLS-bearing substrate import into nucleus|regulation of DNA recombination cytoplasm|nuclear pore|nucleoplasm histone deacetylase binding|nuclear localization sequence binding|protein transporter activity central_nervous_system(2) 2 all_cancers(12;1.18e-09) BRCA - Breast invasive adenocarcinoma(8;1.03e-07)|LUSC - Lung squamous cell carcinoma(166;0.24) GTTGAACAGATTGTGTACCTT 0.388 NA 61 184 0 0 0 0 HGS 9146 broad.mit.edu 37 17 79662939 79662939 + Missense_Mutation SNP A A G TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr17:79662939A>G uc002kbg.2 + 15 1380 c.1303A>G c.(1303-1305)AAT>GAT p.N435D NM_004712 NP_004703 O14964 HGS_HUMAN hepatocyte growth factor-regulated tyrosine 435 Interaction with SNX1 (By similarity). cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of JAK-STAT cascade|regulation of protein catabolic process cytosol|early endosome membrane|multivesicular body membrane metal ion binding|protein domain specific binding ovary(1) 1 all_neural(118;0.0878)|all_lung(278;0.23) BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0955) CAGCATCACCAATGACTCGGC 0.622 NA 15 46 0 0 0 0 DLGAP1 9229 broad.mit.edu 37 18 3879232 3879232 + Missense_Mutation SNP C C G TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr18:3879232C>G uc002kmf.2 - 1 904 c.837G>C c.(835-837)TGG>TGC p.W279C DLGAP1_uc010wyz.1_Missense_Mutation_p.W279C|DLGAP1_uc002kmk.2_Missense_Mutation_p.W279C|uc002kml.1_Intron NM_004746 NP_004737 O14490 DLGP1_HUMAN discs large homolog-associated protein 1 isoform 279 synaptic transmission cell junction|postsynaptic density|postsynaptic membrane ovary(2)|pancreas(1)|skin(1) 4 Colorectal(8;0.0257) GCGTGGAGGACCAGGCGCTCT 0.642 NA 19 65 0 0 0 0 EPB41L3 23136 broad.mit.edu 37 18 5489138 5489138 + Silent SNP C C T TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr18:5489138C>T uc002kmt.1 - 2 131 c.45G>A c.(43-45)CAG>CAA p.Q15Q EPB41L3_uc010wzh.1_Silent_p.Q15Q|EPB41L3_uc002kmu.1_Silent_p.Q15Q|EPB41L3_uc010dkq.1_5'UTR|EPB41L3_uc010dks.1_Silent_p.Q37Q|EPB41L3_uc002kmv.1_5'UTR NM_012307 NP_036439 Q9Y2J2 E41L3_HUMAN erythrocyte membrane protein band 4.1-like 3 15 cortical actin cytoskeleton organization cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane actin binding|structural molecule activity ovary(5) 5 GCTCGGCCTCCTGGTCCGGCT 0.498 NA 21 75 0 0 0 0 TMEM200C 645369 broad.mit.edu 37 18 5891714 5891714 + Missense_Mutation SNP G G T TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr18:5891714G>T uc002kmx.1 - 1 390 c.349C>A c.(349-351)CCT>ACT p.P117T NM_001080209 NP_001073678 A6NKL6 T200C_HUMAN transmembrane protein 200C 117 integral to membrane 0 GGAGCCCTAGGGTGGCTCCTG 0.706 NA 19 81 6.33e-15 8.87e-15 1 0 LAMA1 284217 broad.mit.edu 37 18 6955459 6955459 + Silent SNP C C T TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr18:6955459C>T uc002knm.2 - 57 8194 c.8100G>A c.(8098-8100)CAG>CAA p.Q2700Q LAMA1_uc002knk.2_Silent_p.Q30Q|LAMA1_uc002knl.2_Silent_p.Q153Q|LAMA1_uc010wzj.1_Silent_p.Q2176Q NM_005559 NP_005550 P25391 LAMA1_HUMAN laminin, alpha 1 precursor 2700 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) CCACCACACACTGTTCCTGTA 0.557 NA 18 13 0 0 0 0 GATA6 2627 broad.mit.edu 37 18 19761485 19761485 + Silent SNP C C T rs143026087 byFrequency TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr18:19761485C>T uc002ktt.1 + 4 1639 c.1374C>T c.(1372-1374)AAC>AAT p.N458N GATA6_uc002ktu.1_Silent_p.N458N NM_005257 NP_005248 Q92908 GATA6_HUMAN GATA binding protein 6 458 GATA-type 2. blood coagulation|cardiac vascular smooth muscle cell differentiation|cellular response to hypoxia|intestinal epithelial cell differentiation|male gonad development|negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor-beta1 production|negative regulation of transforming growth factor-beta2 production|outflow tract septum morphogenesis|positive regulation of angiogenesis|positive regulation of cell cycle arrest|positive regulation of transcription from RNA polymerase II promoter|response to drug|response to growth factor stimulus protein binding|protein kinase binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding central_nervous_system(3) 3 all_cancers(21;0.00271)|all_epithelial(16;7.31e-05)|Ovarian(2;0.116)|Lung NSC(20;0.123)|all_lung(20;0.246) STAD - Stomach adenocarcinoma(5;0.106) GGCGCAGAAACGCCGAGGGTG 0.473 NA 4 70 0 0 0 0 FHOD3 80206 broad.mit.edu 37 18 34340703 34340703 + Missense_Mutation SNP A A C TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr18:34340703A>C uc002kzt.1 + 22 4079 c.3982A>C c.(3982-3984)ACC>CCC p.T1328P FHOD3_uc002kzs.1_Missense_Mutation_p.T1345P|FHOD3_uc010dmz.1_Missense_Mutation_p.T1060P|FHOD3_uc010dnb.1_Intron NM_025135 NP_079411 Q2V2M9 FHOD3_HUMAN formin homology 2 domain containing 3 1328 actin cytoskeleton organization cytoplasm|cytoskeleton actin binding skin(3)|large_intestine(2)|breast(2)|ovary(1) 8 all_epithelial(2;0.0181)|Colorectal(2;0.0195) GGAGGACGCCACCCCCGCGCT 0.682 NA 9 40 0 0 0 0 KIAA1632 57724 broad.mit.edu 37 18 43496500 43496500 + Missense_Mutation SNP G G A TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr18:43496500G>A uc002lbm.2 - 18 3387 c.3287C>T c.(3286-3288)CCT>CTT p.P1096L KIAA1632_uc002lbo.1_Missense_Mutation_p.P1096L|KIAA1632_uc010xcq.1_5'UTR|KIAA1632_uc010xcr.1_RNA|KIAA1632_uc010xcs.1_RNA|KIAA1632_uc002lbn.2_5'UTR NM_020964 NP_066015 Q9HCE0 EPG5_HUMAN hypothetical protein LOC57724 1096 autophagy 0 GACACCCTGAGGGACACCGCT 0.537 NA 14 36 0 0 0 0 MBD1 4152 broad.mit.edu 37 18 47803478 47803478 + Missense_Mutation SNP C C G TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr18:47803478C>G uc010dow.1 - 3 644 c.207G>C c.(205-207)TTG>TTC p.L69F MBD1_uc002lef.2_5'Flank|MBD1_uc002leg.2_Missense_Mutation_p.L69F|MBD1_uc010xdi.1_Missense_Mutation_p.L95F|MBD1_uc002leh.3_Missense_Mutation_p.L69F|MBD1_uc002len.2_Missense_Mutation_p.L69F|MBD1_uc002lei.3_Missense_Mutation_p.L69F|MBD1_uc002lej.3_Missense_Mutation_p.L69F|MBD1_uc002lek.3_Missense_Mutation_p.L69F|MBD1_uc002lel.3_Missense_Mutation_p.L69F|MBD1_uc002lem.3_Missense_Mutation_p.L69F|MBD1_uc010xdj.1_Missense_Mutation_p.L69F|MBD1_uc010xdk.1_Missense_Mutation_p.L69F|MBD1_uc010dox.1_Missense_Mutation_p.L69F|MBD1_uc002leo.2_Missense_Mutation_p.L69F NM_015846 NP_056671 Q9UIS9 MBD1_HUMAN methyl-CpG binding domain protein 1 isoform 1 69 MBD. negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter chromosome|nuclear speck methyl-CpG binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding ovary(1)|central_nervous_system(1) 2 CTGGATAGCACAAGATGCCTT 0.537 NA 10 41 0 0 0 0 ST8SIA3 51046 broad.mit.edu 37 18 55020099 55020099 + Missense_Mutation SNP C C T TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr18:55020099C>T uc002lgn.2 + 1 379 c.22C>T c.(22-24)CGG>TGG p.R8W NM_015879 NP_056963 O43173 SIA8C_HUMAN ST8 alpha-N-acetyl-neuraminide 8 Cytoplasmic (Potential). glycosphingolipid biosynthetic process|N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine integral to Golgi membrane alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity breast(1)|skin(1) 2 READ - Rectum adenocarcinoma(59;0.19)|Colorectal(16;0.205) CAAAATGGCCCGGGTCGCCAG 0.557 NA 15 34 0 0 0 0 MC4R 4160 broad.mit.edu 37 18 58039143 58039143 + Missense_Mutation SNP C C A TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr18:58039143C>A uc002lie.1 - 1 859 c.440G>T c.(439-441)AGG>ATG p.R147M NM_005912 NP_005903 P32245 MC4R_HUMAN melanocortin 4 receptor 147 Cytoplasmic (Potential). feeding behavior|G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of bone resorption|positive regulation of cAMP biosynthetic process integral to membrane|plasma membrane melanocyte-stimulating hormone receptor activity|neuropeptide binding|ubiquitin protein ligase binding lung(1) 1 Colorectal(73;0.0946) AGTAAAGTACCTGTCCACTGC 0.433 NA 13 49 5.51e-06 6.55e-06 1 0 NETO1 81832 broad.mit.edu 37 18 70526311 70526311 + Splice_Site SNP T T A TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr18:70526311T>A uc002lkw.2 - 4 505 c.221_splice c.e4-1 p.A74_splice NETO1_uc002lkx.1_Splice_Site_p.A73_splice|NETO1_uc002lky.1_Splice_Site_p.A74_splice|NETO1_uc002lkz.2_Splice_Site_p.A73_splice NM_138966 NP_620416 Q8TDF5 NETO1_HUMAN neuropilin- and tolloid-like protein 1 isoform 3 memory|regulation of long-term neuronal synaptic plasticity|visual learning cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane receptor activity ovary(2)|skin(2) 4 Esophageal squamous(42;0.129) READ - Rectum adenocarcinoma(1;0.0487) TTGGAGCGGCTGTAAAGAAGA 0.368 NA 9 48 0 0 0 0 ZNF407 55628 broad.mit.edu 37 18 72344576 72344576 + Missense_Mutation SNP G G T TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr18:72344576G>T uc002llw.2 + 1 1658 c.1601G>T c.(1600-1602)GGG>GTG p.G534V ZNF407_uc010xfc.1_Missense_Mutation_p.G534V|ZNF407_uc010dqu.1_Missense_Mutation_p.G534V|ZNF407_uc002llu.2_Missense_Mutation_p.G533V NM_017757 NP_060227 Q9C0G0 ZN407_HUMAN zinc finger protein 407 isoform 1 534 C2H2-type 4. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 Esophageal squamous(42;0.131)|Prostate(75;0.173) BRCA - Breast invasive adenocarcinoma(31;0.184) ACAGACTGTGGGCAAGTAGCT 0.517 NA 71 183 4.61e-44 7.01e-44 1 0 SGTA 6449 broad.mit.edu 37 19 2757733 2757734 + Missense_Mutation DNP CC CC AA TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr19:2757733_2757734CC>AA uc002lwi.1 - 10 931_932 c.784_785GG>TT c.(784-786)GGC>TTC p.G262F NM_003021 NP_003012 O43765 SGTA_HUMAN small glutamine-rich tetratricopeptide 262 interspecies interaction between organisms cytoplasm protein binding ovary(1) 1 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) GGGGCTGGTGCCGGGAGTTCCC 0.678 NA 4 7 0 0 0 0 CHAF1A 10036 broad.mit.edu 37 19 4442304 4442304 + Silent SNP C C T TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr19:4442304C>T uc002mal.2 + 14 2836 c.2736C>T c.(2734-2736)GGC>GGT p.G912G NM_005483 NP_005474 Q13111 CAF1A_HUMAN chromatin assembly factor 1, subunit A (p150) 912 Binds to p60. cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent CAF-1 complex|WINAC complex chromatin binding|chromo shadow domain binding|unfolded protein binding ovary(1)|skin(1) 2 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18) aggaggaggGCGACTGTATGA 0.517 NA Chromatin_Structure 7 13 0 0 0 0 MLLT1 4298 broad.mit.edu 37 19 6230694 6230694 + Missense_Mutation SNP C C T TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr19:6230694C>T uc002mek.2 - 4 471 c.307G>A c.(307-309)GAC>AAC p.D103N NM_005934 NP_005925 Q03111 ENL_HUMAN myeloid/lymphoid or mixed-lineage leukemia 103 YEATS. regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter cytoplasm|nucleolus DNA binding|protein binding skin(1) 1 AGGAACAGGTCGTAGGTGAAG 0.582 NA T MLL AL 46 99 0 0 0 0 MUC16 94025 broad.mit.edu 37 19 8969277 8969277 + Missense_Mutation SNP G G T TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr19:8969277G>T uc002mkp.2 - 79 43271 c.43067C>A c.(43066-43068)GCG>GAG p.A14356E MUC16_uc010dwi.2_RNA|MUC16_uc010dwj.2_Missense_Mutation_p.A1156E|MUC16_uc010xki.1_RNA NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 CCTTCTCACCGCATCCTCAAT 0.438 NA 21 61 3.84e-06 4.59e-06 1 0 MUC16 94025 broad.mit.edu 37 19 9059669 9059669 + Silent SNP G G T TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr19:9059669G>T uc002mkp.2 - 3 27981 c.27777C>A c.(27775-27777)CCC>CCA p.P9259P NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 9261 Ser-rich.|Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 TATCTCCTGTGGGGTAGGTGA 0.468 NA 32 43 3.99e-17 5.73e-17 1 0 ZNF560 147741 broad.mit.edu 37 19 9578043 9578043 + Missense_Mutation SNP G G A TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr19:9578043G>A uc002mlp.1 - 10 1790 c.1580C>T c.(1579-1581)TCT>TTT p.S527F ZNF560_uc010dwr.1_Missense_Mutation_p.S421F NM_152476 NP_689689 Q96MR9 ZN560_HUMAN zinc finger protein 560 527 C2H2-type 7. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(2)|ovary(1)|large_intestine(1)|pancreas(1)|liver(1) 6 ACAGGCAGAAGAGGTAAATGG 0.398 NA 36 35 0 0 0 0 PIK3R2 5296 broad.mit.edu 37 19 18278076 18278076 + Missense_Mutation SNP G G T TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr19:18278076G>T uc002nia.1 + 13 2208 c.1696G>T c.(1696-1698)GAC>TAC p.D566Y PIK3R2_uc002nib.1_RNA|PIK3R2_uc010ebi.1_RNA NM_005027 NP_005018 O00459 P85B_HUMAN phosphoinositide-3-kinase, regulatory subunit 2 566 fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|negative regulation of anti-apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|T cell costimulation|T cell receptor signaling pathway phosphatidylinositol 3-kinase complex GTPase activator activity|phosphatidylinositol 3-kinase regulator activity|protein binding lung(2)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|pancreas(1) 6 CCTCAAGCCGGACCTCATGCA 0.622 NA 16 42 6.94e-10 9.11e-10 1 0 ZNF253 56242 broad.mit.edu 37 19 20002666 20002666 + Nonsense_Mutation SNP G G T TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr19:20002666G>T uc002noj.2 + 4 702 c.610G>T c.(610-612)GAA>TAA p.E204* ZNF253_uc002nok.2_Nonsense_Mutation_p.E128*|ZNF253_uc002nol.2_RNA NM_021047 NP_066385 O75346 ZN253_HUMAN zinc finger protein 253 204 C2H2-type 2. negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 CAGATGTGAAGAATGTGGCAA 0.373 NA 11 28 5.17e-11 6.89e-11 1 0 ZNF99 7652 broad.mit.edu 37 19 22940345 22940345 + Missense_Mutation SNP T T A TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr19:22940345T>A uc010xrh.1 - 5 2093 c.2093A>T c.(2092-2094)TAT>TTT p.Y698F 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) TTCACATTTATAGGGTTTCTT 0.353 NA 14 30 0 0 0 0 ZNF99 7652 broad.mit.edu 37 19 22940512 22940512 + Nonsense_Mutation SNP G G T TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr19:22940512G>T uc010xrh.1 - 5 1926 c.1926C>A c.(1924-1926)TAC>TAA p.Y642* 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) CTTCACATTTGTAGGGTTTCT 0.378 NA 5 34 5.94e-07 7.29e-07 1 0 TIMM50 92609 broad.mit.edu 37 19 39976376 39976376 + Nonsense_Mutation SNP G G T TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr19:39976376G>T uc002olu.1 + 6 863 c.730G>T c.(730-732)GAA>TAA p.E244* TIMM50_uc002olt.1_RNA|TIMM50_uc002olv.1_5'UTR NM_001001563 NP_001001563 Q3ZCQ8 TIM50_HUMAN translocase of inner mitochondrial membrane 50 141 Mitochondrial intermembrane (Potential). mitochondrial membrane organization|protein transport|release of cytochrome c from mitochondria|transmembrane transport integral to membrane|mitochondrial inner membrane presequence translocase complex|nuclear speck interleukin-2 receptor binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|ribonucleoprotein binding|RNA binding ovary(1) 1 all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159) Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657) CCCTCTGCAGGAACCGTACTA 0.587 NA 16 75 6.5e-13 8.92e-13 1 0 LGALS13 29124 broad.mit.edu 37 19 40095319 40095319 + Splice_Site SNP G G C TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr19:40095319G>C uc002omb.2 + 2 132 c.92_splice c.e2+1 p.I31_splice NM_013268 NP_037400 Q9UHV8 PP13_HUMAN galectin-13 lipid catabolic process|phospholipid metabolic process carboxylesterase activity|lysophospholipase activity|sugar binding ovary(1) 1 all_cancers(60;1.77e-05)|all_lung(34;5.38e-08)|Lung NSC(34;6.37e-08)|Ovarian(47;0.116) Epithelial(26;3.28e-26)|OV - Ovarian serous cystadenocarcinoma(5;7.31e-25)|all cancers(26;1.15e-23)|LUSC - Lung squamous cell carcinoma(53;0.00281) ACTCTTTTATGTGAGTACTCC 0.453 NA 39 114 0 0 0 0 CLC 1178 broad.mit.edu 37 19 40222130 40222130 + Missense_Mutation SNP G G T TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr19:40222130G>T uc002omh.2 - 4 395 c.319C>A c.(319-321)CAA>AAA p.Q107K NM_001828 NP_001819 Q05315 LPPL_HUMAN Charcot-Leyden crystal protein 107 Galectin. lipid catabolic process|multicellular organismal development carboxylesterase activity|lysophospholipase activity|sugar binding 0 all_cancers(60;2.99e-06)|all_lung(34;4.7e-08)|Lung NSC(34;5.46e-08)|Ovarian(47;0.06) Renal(1328;0.000147)|Hepatocellular(1079;0.0202)|Myeloproliferative disorder(2;0.0255) Epithelial(26;6.43e-25)|OV - Ovarian serous cystadenocarcinoma(5;1.07e-24)|all cancers(26;8.38e-23) GBM - Glioblastoma multiforme(1328;4.97e-06)|STAD - Stomach adenocarcinoma(1328;0.00655) TAAGAGGATTGGCCATTGACC 0.413 NA 40 154 4.07e-28 6.06e-28 1 0 FCGBP 8857 broad.mit.edu 37 19 40357440 40357440 + Silent SNP C C A TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr19:40357440C>A uc002omp.3 - 34 15881 c.15873G>T c.(15871-15873)GTG>GTT p.V5291V NM_003890 NP_003881 Q9Y6R7 FCGBP_HUMAN Fc fragment of IgG binding protein precursor 5291 VWFD 13. extracellular region protein binding ovary(4)|skin(4)|central_nervous_system(1) 9 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) GGACCTGGCCCACAGCCTCCG 0.547 NA 21 71 1.26e-06 1.54e-06 1 0 CEACAM7 1087 broad.mit.edu 37 19 42187951 42187951 + Silent SNP C C A TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr19:42187951C>A uc002ori.1 - 3 473 c.471G>T c.(469-471)CCG>CCT p.P157P CEACAM7_uc010ehx.2_Silent_p.P157P|CEACAM7_uc010ehy.1_Intron NM_006890 NP_008821 Q14002 CEAM7_HUMAN carcinoembryonic antigen-related cell adhesion 157 Ig-like C2-type. anchored to membrane|integral to membrane|plasma membrane ovary(2) 2 OV - Ovarian serous cystadenocarcinoma(3;0.0027)|all cancers(3;0.00979)|Epithelial(262;0.0366) TGTTCTCCACCGGATTGAAGT 0.522 NA 43 114 1.15e-24 1.7e-24 1 0 ARHGEF1 9138 broad.mit.edu 37 19 42406968 42406968 + Missense_Mutation SNP A A T TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr19:42406968A>T uc002orx.2 + 18 1767 c.1658A>T c.(1657-1659)CAG>CTG p.Q553L ARHGEF1_uc002ory.2_Missense_Mutation_p.Q520L|ARHGEF1_uc002orz.2_Missense_Mutation_p.Q391L|ARHGEF1_uc002osa.2_Missense_Mutation_p.Q568L|ARHGEF1_uc002osb.2_Missense_Mutation_p.Q535L|ARHGEF1_uc002osc.2_Missense_Mutation_p.Q307L|ARHGEF1_uc002osd.2_Missense_Mutation_p.Q212L|ARHGEF1_uc002ose.2_5'UTR NM_004706 NP_004697 Q92888 ARHG1_HUMAN Rho guanine nucleotide exchange factor 1 isoform 553 DH. cell proliferation|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis|regulation of Rho protein signal transduction|Rho protein signal transduction cytosol|plasma membrane GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity ovary(3)|large_intestine(1) 4 Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425) Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644) CGCCGCCTGCAGCTGAAGGAC 0.652 NA 23 60 0 0 0 0 PSG6 5675 broad.mit.edu 37 19 43529172 43529172 + Missense_Mutation SNP G G T TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr19:43529172G>T uc002ovh.1 - 2 208 c.119C>A c.(118-120)GCC>GAC p.A40D PSG11_uc002ouw.2_Missense_Mutation_p.A40D|PSG10_uc002ouv.1_Intron|PSG6_uc002ovi.2_Intron|PSG6_uc010xwk.1_Intron|PSG11_uc002ovk.1_Missense_Mutation_p.A40D|PSG11_uc002ovm.1_Missense_Mutation_p.A34D|PSG11_uc002ovn.1_Missense_Mutation_p.A40D|PSG11_uc002ovo.1_Intron|PSG11_uc002ovp.1_Intron Q00889 PSG6_HUMAN SubName: Full=Putative uncharacterized protein PSG6; 34 female pregnancy extracellular region ovary(1)|skin(1) 2 Prostate(69;0.00899) CATGACTTGGGCAGTGGTAGG 0.478 NA 64 189 8.82e-31 1.32e-30 1 0 ZNF222 7673 broad.mit.edu 37 19 44536052 44536052 + Silent SNP A A G TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr19:44536052A>G uc002oyc.2 + 4 408 c.225A>G c.(223-225)CAA>CAG p.Q75Q ZNF284_uc010ejd.2_Intron|ZNF222_uc002oye.2_Silent_p.Q115Q|ZNF222_uc002oyd.2_Silent_p.Q21Q NM_013360 NP_037492 Q9UK12 ZN222_HUMAN zinc finger protein 222 isoform 2 75 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(3) 3 Prostate(69;0.0435) TTTGGGAACAAATTGCAAGTG 0.403 NA 21 54 0 0 0 0 ZNF285 26974 broad.mit.edu 37 19 44890987 44890987 + Missense_Mutation SNP G G T TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr19:44890987G>T uc002ozd.3 - 4 1507 c.1420C>A c.(1420-1422)CAT>AAT p.H474N ZFP112_uc010xwz.1_Intron|ZNF285_uc010xxa.1_Missense_Mutation_p.H481N NM_152354 NP_689567 Q96NJ3 ZN285_HUMAN zinc finger protein 285 474 C2H2-type 8. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2)|skin(2) 4 ACTCTCTGATGAGTGTGAAGA 0.398 NA 30 75 7.26e-15 1.01e-14 1 0 IGFL4 444882 broad.mit.edu 37 19 46543550 46543550 + Missense_Mutation SNP G G T TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr19:46543550G>T uc002pdy.1 - 3 249 c.195C>A c.(193-195)AGC>AGA p.S65R NM_001002923 NP_001002923 Q6B9Z1 IGFL4_HUMAN IGF-like family member 4 precursor 65 extracellular region 0 all_neural(266;0.113)|Ovarian(192;0.127) OV - Ovarian serous cystadenocarcinoma(262;0.0036)|GBM - Glioblastoma multiforme(486;0.022)|Epithelial(262;0.208) AGAAGGTGCAGCTGGAGCCGC 0.597 NA 20 53 8.81e-21 1.28e-20 1 0 DHX34 9704 broad.mit.edu 37 19 47884120 47884120 + Missense_Mutation SNP G G T TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr19:47884120G>T uc010xyn.1 + 15 3371 c.3030G>T c.(3028-3030)ATG>ATT p.M1010I DHX34_uc010xyo.1_Missense_Mutation_p.M139I NM_014681 NP_055496 Q14147 DHX34_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 34 1010 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) TCCAGAACATGTATGTGGGAC 0.463 NA 17 67 3.57e-18 5.17e-18 1 0 ZNF350 59348 broad.mit.edu 37 19 52468462 52468462 + Missense_Mutation SNP G G A TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr19:52468462G>A uc002pyd.2 - 5 1472 c.1244C>T c.(1243-1245)TCG>TTG p.S415L uc002pyb.2_Intron|uc002pyc.2_Intron NM_021632 NP_067645 Q9GZX5 ZN350_HUMAN zinc finger protein 350 415 C2H2-type 8. negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear matrix|transcriptional repressor complex DNA binding|protein binding|zinc ion binding breast(1) 1 all_neural(266;0.0505) GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0179) AACCAGACACGACATATACGC 0.473 NA 21 49 0 0 0 0 ZNF350 59348 broad.mit.edu 37 19 52468703 52468703 + Missense_Mutation SNP C C T TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr19:52468703C>T uc002pyd.2 - 5 1231 c.1003G>A c.(1003-1005)GCA>ACA p.A335T uc002pyb.2_Intron|uc002pyc.2_Intron NM_021632 NP_067645 Q9GZX5 ZN350_HUMAN zinc finger protein 350 335 C2H2-type 5. negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear matrix|transcriptional repressor complex DNA binding|protein binding|zinc ion binding breast(1) 1 all_neural(266;0.0505) GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0179) CTCTGATGTGCTATGAGACAC 0.393 NA 19 68 0 0 0 0 TMC4 147798 broad.mit.edu 37 19 54668180 54668180 + Silent SNP G G A TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr19:54668180G>A uc010erf.2 - 7 1251 c.1119C>T c.(1117-1119)ACC>ACT p.T373T TMC4_uc002qdn.2_Missense_Mutation_p.R64C|TMC4_uc002qdo.2_Silent_p.T367T NM_001145303 NP_001138775 Q7Z404 TMC4_HUMAN transmembrane channel-like 4 isoform 1 373 Cytoplasmic (Potential). integral to membrane pancreas(1) 1 all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) GCAGCTCCACGGTGCACCCCG 0.632 NA 55 134 0 0 0 0 LAIR1 3903 broad.mit.edu 37 19 54867571 54867571 + Missense_Mutation SNP C C A TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr19:54867571C>A uc002qfk.1 - 9 1019 c.709G>T c.(709-711)GAC>TAC p.D237Y LAIR1_uc002qfl.1_Missense_Mutation_p.D220Y|LAIR1_uc002qfm.1_Missense_Mutation_p.D236Y|LAIR1_uc002qfn.1_Missense_Mutation_p.D219Y|LAIR1_uc010yex.1_Missense_Mutation_p.D230Y|LAIR1_uc002qfo.2_Missense_Mutation_p.D219Y NM_002287 NP_002278 Q6GTX8 LAIR1_HUMAN leukocyte-associated immunoglobulin-like 237 Cytoplasmic (Potential). integral to membrane|plasma membrane protein binding|receptor activity ovary(4) 4 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.0573) ACCGAGGTGTCCGTCTCTCTG 0.323 NA 24 81 7.44e-23 1.1e-22 1 0 LILRA2 11027 broad.mit.edu 37 19 55087020 55087020 + Splice_Site SNP G G T TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr19:55087020G>T uc002qgg.3 + 5 1041 c.952_splice c.e5+1 p.G318_splice LILRA2_uc010ern.2_Splice_Site_p.G318_splice|LILRA2_uc002qgf.2_Splice_Site_p.G318_splice|LILRA2_uc010yfe.1_Splice_Site_p.G318_splice|LILRA2_uc010yff.1_Splice_Site_p.G306_splice|LILRA2_uc010ero.2_Splice_Site_p.G306_splice|LILRA2_uc010yfg.1_Intron NM_001130917 NP_001124389 Q8N149 LIRA2_HUMAN leukocyte immunoglobulin-like receptor, defense response integral to membrane antigen binding|receptor activity ovary(1) 1 GBM - Glioblastoma multiforme(193;0.0963) CTGATCACAGGTGAGGAGCCC 0.657 NA 19 67 4.35e-09 5.63e-09 1 0 LILRA1 11024 broad.mit.edu 37 19 55106733 55106733 + Missense_Mutation SNP G G T TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr19:55106733G>T uc002qgh.1 + 5 709 c.527G>T c.(526-528)GGG>GTG p.G176V LILRA2_uc010yfg.1_Intron|LILRA1_uc010yfh.1_Missense_Mutation_p.G176V NM_006863 NP_006854 O75019 LIRA1_HUMAN leukocyte immunoglobulin-like receptor, 176 Ig-like C2-type 2.|Extracellular (Potential). cell surface receptor linked signaling pathway|defense response|regulation of immune response integral to membrane|plasma membrane antigen binding|transmembrane receptor activity skin(2)|ovary(1) 3 GBM - Glioblastoma multiforme(193;0.0348) CGTACCCATGGGTGGTCCCGG 0.562 NA 43 165 1.47e-15 2.08e-15 1 0 LILRB1 10859 broad.mit.edu 37 19 55143548 55143548 + Missense_Mutation SNP C C G TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr19:55143548C>G uc002qgj.2 + 6 861 c.521C>G c.(520-522)GCC>GGC p.A174G LILRB1_uc010erp.1_Intron|LILRB1_uc002qgl.2_Missense_Mutation_p.A174G|LILRB1_uc002qgk.2_Missense_Mutation_p.A174G|LILRB1_uc002qgm.2_Missense_Mutation_p.A174G|LILRB1_uc010erq.2_Missense_Mutation_p.A174G|LILRB1_uc010err.2_RNA NM_006669 NP_006660 Q8NHL6 LIRB1_HUMAN leukocyte immunoglobulin-like receptor, 174 Ig-like C2-type 2.|Extracellular (Potential). regulation of immune response|response to virus integral to membrane|plasma membrane protein phosphatase 1 binding|receptor activity large_intestine(1)|ovary(1)|skin(1) 3 GBM - Glioblastoma multiforme(193;0.0188) CAGCCCCATGCCCGTGGGTCG 0.572 NA HNSCC(37;0.09) 38 92 0 0 0 0 SUV420H2 84787 broad.mit.edu 37 19 55853662 55853662 + Missense_Mutation SNP G G C TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr19:55853662G>C uc002qkj.3 + 3 438 c.190G>C c.(190-192)GCG>CCG p.A64P SUV420H2_uc010esx.1_Missense_Mutation_p.A64P|SUV420H2_uc002qkk.1_Missense_Mutation_p.A64P|SUV420H2_uc002qkl.2_Intron NM_032701 NP_116090 Q86Y97 SV422_HUMAN suppressor of variegation 4-20 homolog 2 64 regulation of transcription, DNA-dependent|transcription, DNA-dependent protein binding 0 Breast(117;0.191) BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.044) CCTGGAGGCTGCGTACCGGGC 0.726 NA 5 13 0 0 0 0 ZNF135 7694 broad.mit.edu 37 19 58578900 58578900 + Missense_Mutation SNP G G A TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr19:58578900G>A uc010yhq.1 + 5 1180 c.1084G>A c.(1084-1086)GGG>AGG p.G362R ZNF135_uc002qre.2_Missense_Mutation_p.G350R|ZNF135_uc002qrd.1_Missense_Mutation_p.G308R|ZNF135_uc002qrf.2_Missense_Mutation_p.G308R|ZNF135_uc002qrg.2_Missense_Mutation_p.G320R|ZNF135_uc010yhr.1_Missense_Mutation_p.G171R NM_003436 NP_003427 B4DHH9 B4DHH9_HUMAN zinc finger protein 135 isoform 2 362 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding ovary(1) 1 Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161) AATCCACACTGGGGAGAAACC 0.572 NA 18 32 0 0 0 0 APOB 338 broad.mit.edu 37 2 21226197 21226197 + Missense_Mutation SNP C C T TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr2:21226197C>T uc002red.2 - 29 12225 c.12097G>A c.(12097-12099)GAT>AAT p.D4033N NM_000384 NP_000375 P04114 APOB_HUMAN apolipoprotein B precursor 4033 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1) 27 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) AGTTTTTTATCTGGAGAGGAC 0.338 NA 87 238 0 0 0 0 OTOF 9381 broad.mit.edu 37 2 26696031 26696031 + Silent SNP T T G TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr2:26696031T>G uc002rhk.2 - 29 3829 c.3702A>C c.(3700-3702)CCA>CCC p.P1234P OTOF_uc010yla.1_5'UTR|OTOF_uc002rhh.2_Silent_p.P487P|OTOF_uc002rhi.2_Silent_p.P544P|OTOF_uc002rhj.2_Silent_p.P487P NM_194248 NP_919224 Q9HC10 OTOF_HUMAN otoferlin isoform a 1234 Cytoplasmic (Potential). cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane calcium ion binding ovary(3)|breast(2)|central_nervous_system(1)|pancreas(1) 7 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CCGAGCGGTCTGGGGGCCGGT 0.682 NA 16 44 0 0 0 0 ZNF513 130557 broad.mit.edu 37 2 27603383 27603383 + Missense_Mutation SNP C C T TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr2:27603383C>T uc002rkk.2 - 1 211 c.11G>A c.(10-12)AGG>AAG p.R4K ZNF513_uc002rkj.2_5'Flank NM_144631 NP_653232 Q8N8E2 ZN513_HUMAN zinc finger protein 513 4 regulation of transcription, DNA-dependent|response to stimulus|retina development in camera-type eye|transcription, DNA-dependent|visual perception nucleus transcription regulatory region DNA binding|zinc ion binding ovary(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GCTTTGCTTCCTTCGGGGCAT 0.711 NA 4 9 0 0 0 0 WDR43 23160 broad.mit.edu 37 2 29169565 29169565 + Missense_Mutation SNP G G A TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr2:29169565G>A uc002rmo.2 + 18 1986 c.1954G>A c.(1954-1956)GAG>AAG p.E652K NM_015131 NP_055946 Q15061 WDR43_HUMAN WD repeat domain 43 652 nucleolus ovary(1) 1 Acute lymphoblastic leukemia(172;0.155) agaaaatggcgaggacagaga 0.149 NA 3 8 0 0 0 0 PSME4 23198 broad.mit.edu 37 2 54125132 54125132 + Missense_Mutation SNP A A T TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr2:54125132A>T uc002rxp.2 - 31 3537 c.3481T>A c.(3481-3483)TGG>AGG p.W1161R PSME4_uc010yop.1_Missense_Mutation_p.W1047R|PSME4_uc010yoq.1_RNA|PSME4_uc010fbu.1_Missense_Mutation_p.W536R|PSME4_uc010fbv.1_Missense_Mutation_p.W305R NM_014614 NP_055429 Q14997 PSME4_HUMAN proteasome (prosome, macropain) activator 1161 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction nuclear speck|proteasome complex binding ovary(2)|breast(2)|pancreas(1) 5 Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181) TCAAATTTCCAGGGCCTTAAA 0.363 NA 28 85 0 0 0 0 XPO1 7514 broad.mit.edu 37 2 61760930 61760930 + Silent SNP A A G TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr2:61760930A>G uc002sbj.2 - 2 831 c.103T>C c.(103-105)TTA>CTA p.L35L XPO1_uc010fcl.2_Silent_p.L31L|XPO1_uc010ypn.1_Silent_p.L31L|XPO1_uc002sbk.2_5'UTR NM_003400 NP_003391 O14980 XPO1_HUMAN exportin 1 35 Necessary for HTLV-1 Rex-mediated mRNA export. intracellular protein transport|mitotic prometaphase|mRNA metabolic process|mRNA transport|viral genome transport in host cell|viral infectious cycle annulate lamellae|Cajal body|cytosol|kinetochore|nuclear envelope|nucleolus|ribonucleoprotein complex protein binding|protein transporter activity|RNA binding ovary(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1) 4 LUSC - Lung squamous cell carcinoma(7;5.71e-05)|Epithelial(17;0.0662)|all cancers(80;0.226) CCATGGTATAAGCAATTCACC 0.368 NA 16 45 0 0 0 0 DYSF 8291 broad.mit.edu 37 2 71825794 71825794 + Missense_Mutation SNP G G T TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr2:71825794G>T uc002sie.2 + 33 3997 c.3621G>T c.(3619-3621)GAG>GAT p.E1207D DYSF_uc010feg.2_Missense_Mutation_p.E1238D|DYSF_uc010feh.2_Missense_Mutation_p.E1193D|DYSF_uc002sig.3_Missense_Mutation_p.E1193D|DYSF_uc010yqx.1_RNA|DYSF_uc010fee.2_Missense_Mutation_p.E1207D|DYSF_uc010fef.2_Missense_Mutation_p.E1224D|DYSF_uc010fei.2_Missense_Mutation_p.E1224D|DYSF_uc010fek.2_Missense_Mutation_p.E1225D|DYSF_uc010fej.2_Missense_Mutation_p.E1194D|DYSF_uc010fel.2_Missense_Mutation_p.E1194D|DYSF_uc010feo.2_Missense_Mutation_p.E1239D|DYSF_uc010fem.2_Missense_Mutation_p.E1208D|DYSF_uc010fen.2_Missense_Mutation_p.E1225D|DYSF_uc002sif.2_Missense_Mutation_p.E1208D|DYSF_uc010yqy.1_Missense_Mutation_p.E88D NM_003494 NP_003485 O75923 DYSF_HUMAN dysferlin isoform 8 1207 Cytoplasmic (Potential).|C2 4. cytoplasmic vesicle membrane|integral to membrane|sarcolemma calcium-dependent phospholipid binding ovary(3)|breast(2)|pancreas(1)|skin(1) 7 TCTTCTACGAGATCGAGATCT 0.567 NA 29 55 5.46e-16 7.72e-16 1 0 DCTN1 1639 broad.mit.edu 37 2 74594514 74594514 + Missense_Mutation SNP C C G TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr2:74594514C>G uc002skx.2 - 19 2529 c.2218G>C c.(2218-2220)GAG>CAG p.E740Q DCTN1_uc002skt.1_5'Flank|DCTN1_uc002skv.2_Missense_Mutation_p.E606Q|DCTN1_uc002sku.2_Missense_Mutation_p.E606Q|DCTN1_uc002skw.1_Missense_Mutation_p.E716Q|DCTN1_uc010ffd.2_Missense_Mutation_p.E720Q|DCTN1_uc002sky.2_Missense_Mutation_p.E703Q NM_004082 NP_004073 Q14203 DCTN1_HUMAN dynactin 1 isoform 1 740 cell death|G2/M transition of mitotic cell cycle|mitosis|nervous system development centrosome|cytosol|kinetochore|microtubule|spindle pole motor activity|protein binding ovary(3)|skin(2) 5 GTACAGTCCTCAGGCTGTTCG 0.527 NA 18 37 0 0 0 0 FAM176A 84141 broad.mit.edu 37 2 75720464 75720464 + Missense_Mutation SNP C C A TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr2:75720464C>A uc002sni.2 - 4 835 c.357G>T c.(355-357)GAG>GAT p.E119D FAM176A_uc002snj.1_Missense_Mutation_p.E106D|FAM176A_uc002snk.1_Missense_Mutation_p.E119D NM_001135032 NP_001128504 Q9H8M9 F176A_HUMAN family with sequence similarity 176, member A 119 apoptosis|autophagy endoplasmic reticulum membrane|integral to membrane|lysosomal membrane|plasma membrane 0 GCTGGGCGCGCTCCAGCTCCT 0.612 NA 24 55 1.97e-08 2.51e-08 1 0 REG3A 5068 broad.mit.edu 37 2 79384406 79384406 + Missense_Mutation SNP C C A TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr2:79384406C>A uc002sod.1 - 5 729 c.474G>T c.(472-474)TGG>TGT p.W158C REG3A_uc002soe.1_Missense_Mutation_p.W158C|REG3A_uc002sof.1_Missense_Mutation_p.W158C NM_138938 NP_620355 Q06141 REG3A_HUMAN pancreatitis-associated protein precursor 158 C-type lectin. acute-phase response|cell proliferation|heterophilic cell-cell adhesion|multicellular organismal development cytoplasm|extracellular space|soluble fraction sugar binding skin(1) 1 TATAATCTTTCCACCTCAGAA 0.458 NA 19 35 3.52e-12 4.76e-12 1 0 CTNNA2 1496 broad.mit.edu 37 2 80136849 80136849 + Missense_Mutation SNP C C A TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr2:80136849C>A uc010ysh.1 + 6 987 c.982C>A c.(982-984)CGC>AGC p.R328S CTNNA2_uc010yse.1_Missense_Mutation_p.R328S|CTNNA2_uc010ysf.1_Missense_Mutation_p.R328S|CTNNA2_uc010ysg.1_Missense_Mutation_p.R328S NM_004389 NP_004380 P26232 CTNA2_HUMAN catenin, alpha 2 isoform 1 328 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 AGACGACCGGCGCGAGAGGAT 0.637 NA 27 94 4.23e-11 5.67e-11 1 0 SH2D6 284948 broad.mit.edu 37 2 85662935 85662935 + Missense_Mutation SNP G G C TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr2:85662935G>C uc002spq.2 + 3 560 c.399G>C c.(397-399)AGG>AGC p.R133S SH2D6_uc002spo.2_RNA|SH2D6_uc002spp.2_RNA NM_198482 NP_940884 Q7Z4S9 SH2D6_HUMAN SH2 domain containing 6 133 SH2. central_nervous_system(1) 1 GGGAGGGCAGGAACCGTGAGG 0.637 NA 5 5 0 0 0 0 MERTK 10461 broad.mit.edu 37 2 112751909 112751909 + Missense_Mutation SNP A A G TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr2:112751909A>G uc002thk.1 + 9 1500 c.1378A>G c.(1378-1380)AGG>GGG p.R460G MERTK_uc002thl.1_Missense_Mutation_p.R284G NM_006343 NP_006334 Q12866 MERTK_HUMAN MER receptor tyrosine kinase precursor 460 Fibronectin type-III 2.|Extracellular (Potential). cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration integral to plasma membrane|soluble fraction ATP binding|transmembrane receptor protein tyrosine kinase activity lung(6)|upper_aerodigestive_tract(1)|stomach(1)|kidney(1) 9 GTGCACAGTGAGGATTGCAGC 0.527 NA 55 125 0 0 0 0 CNTNAP5 129684 broad.mit.edu 37 2 125547524 125547524 + Missense_Mutation SNP C C A TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr2:125547524C>A uc002tno.2 + 18 3159 c.2795C>A c.(2794-2796)TCC>TAC p.S932Y CNTNAP5_uc010flu.2_Missense_Mutation_p.S933Y NM_130773 NP_570129 Q8WYK1 CNTP5_HUMAN contactin associated protein-like 5 precursor 932 Laminin G-like 3.|Extracellular (Potential). cell adhesion|signal transduction integral to membrane receptor binding ovary(10) 10 BRCA - Breast invasive adenocarcinoma(221;0.248) TGCATTCGCTCCTTACACTTG 0.493 NA 26 41 1.18e-14 1.65e-14 1 0 NCKAP5 344148 broad.mit.edu 37 2 133542404 133542404 + Missense_Mutation SNP C C G TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr2:133542404C>G uc002ttp.2 - 14 2354 c.1980G>C c.(1978-1980)AGG>AGC p.R660S NCKAP5_uc002ttq.2_Intron NM_207363 NP_997246 O14513 NCKP5_HUMAN Nck-associated protein 5 isoform 1 660 protein binding 0 CTGAAGAAGTCCTTTTTACAA 0.443 NA 31 89 0 0 0 0 GALNT13 114805 broad.mit.edu 37 2 155157934 155157934 + Nonsense_Mutation SNP G G T TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr2:155157934G>T uc002tyr.3 + 9 1555 c.988G>T c.(988-990)GGA>TGA p.G330* GALNT13_uc002tyt.3_Nonsense_Mutation_p.G330*|GALNT13_uc010foc.1_Nonsense_Mutation_p.G149*|GALNT13_uc010fod.2_Nonsense_Mutation_p.G83* NM_052917 NP_443149 Q8IUC8 GLT13_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide 330 Catalytic subdomain B.|Lumenal (Potential). Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding ovary(2)|pancreas(2)|central_nervous_system(1)|skin(1) 6 TTGGCAATGTGGAGGCTCCTT 0.403 NA 51 131 1.4e-22 2.06e-22 1 0 DHRS9 10170 broad.mit.edu 37 2 169938164 169938164 + Missense_Mutation SNP G G A TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr2:169938164G>A uc002uep.2 + 5 1577 c.73G>A c.(73-75)GAA>AAA p.E25K DHRS9_uc002ueq.2_Missense_Mutation_p.E25K|DHRS9_uc010zdc.1_Missense_Mutation_p.E85K|DHRS9_uc002uer.1_Missense_Mutation_p.E25K|DHRS9_uc010zdd.1_Missense_Mutation_p.E25K|DHRS9_uc010zde.1_Missense_Mutation_p.E25K NM_005771 NP_005762 Q9BPW9 DHRS9_HUMAN NADP-dependent retinol dehydrogenase/reductase 25 9-cis-retinoic acid biosynthetic process|androgen metabolic process|epithelial cell differentiation|progesterone metabolic process|retinol metabolic process integral to endoplasmic reticulum membrane|microsome alcohol dehydrogenase (NAD) activity|binding|racemase and epimerase activity|retinol dehydrogenase activity|testosterone dehydrogenase (NAD+) activity 0 ACTAAAGATTGAAGACATCAC 0.418 NA 24 59 0 0 0 0 TTN 7273 broad.mit.edu 37 2 179470318 179470318 + Silent SNP G G T TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr2:179470318G>T uc010zfg.1 - 228 46224 c.46000C>A c.(46000-46002)CGG>AGG p.R15334R uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.R9029R|TTN_uc010zfi.1_Silent_p.R8962R|TTN_uc010zfj.1_Silent_p.R8837R NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 16261 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TCATGACGCCGTTTTTCAATG 0.433 NA 26 97 4.6e-10 6.07e-10 1 0 TTN 7273 broad.mit.edu 37 2 179534147 179534147 + Missense_Mutation SNP T T G TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr2:179534147T>G uc010zfk.1 - 5 568 c.20A>C c.(19-21)CAA>CCA p.Q7P TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron|TTN_uc010fre.1_Intron Q8WZ42 TITIN_HUMAN SubName: Full=Titin; Flags: Fragment; Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TTTTTCTTCTTGAACACTTTT 0.289 NA 4 4 0 0 0 0 TTN 7273 broad.mit.edu 37 2 179556770 179556770 + Missense_Mutation SNP T T C TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr2:179556770T>C uc010zfg.1 - 118 28227 c.28003A>G c.(28003-28005)AAG>GAG p.K9335E TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.K5996E|TTN_uc010fre.1_Missense_Mutation_p.K446E NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 10262 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GGTTCCTTCTTAGGCACAGGA 0.458 NA 18 43 0 0 0 0 TTN 7273 broad.mit.edu 37 2 179597011 179597011 + Missense_Mutation SNP T T A TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr2:179597011T>A uc010zfg.1 - 54 13177 c.12953A>T c.(12952-12954)CAG>CTG p.Q4318L TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.Q979L NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 5245 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GCAGGCTAGCTGGGTGGCATC 0.403 NA 55 112 0 0 0 0 TTN 7273 broad.mit.edu 37 2 179639041 179639041 + Missense_Mutation SNP C C A TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr2:179639041C>A uc010zfg.1 - 30 7174 c.6950G>T c.(6949-6951)CGT>CTT p.R2317L TTN_uc010zfh.1_Missense_Mutation_p.R2271L|TTN_uc010zfi.1_Missense_Mutation_p.R2271L|TTN_uc010zfj.1_Missense_Mutation_p.R2271L|TTN_uc002unb.2_Missense_Mutation_p.R2317L|uc002unc.1_5'Flank NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 2317 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) ACGTCCACGACGAGATGTAAT 0.408 NA 34 88 3.63e-18 5.24e-18 1 0 ITGA4 3676 broad.mit.edu 37 2 182392030 182392030 + Silent SNP A A G TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr2:182392030A>G uc002unu.2 + 22 3109 c.2346A>G c.(2344-2346)GTA>GTG p.V782V ITGA4_uc010frj.1_Silent_p.V264V|ITGA4_uc002unv.2_Silent_p.V27V NM_000885 NP_000876 P13612 ITA4_HUMAN integrin alpha 4 precursor 782 Extracellular (Potential). blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response integrin complex identical protein binding|receptor activity ovary(3)|lung(1)|central_nervous_system(1)|pancreas(1) 6 OV - Ovarian serous cystadenocarcinoma(117;0.0593) Natalizumab(DB00108) CCAGGTTTGTAAACCCAACTT 0.299 NA 3 34 0 0 0 0 DNAH7 56171 broad.mit.edu 37 2 196749473 196749473 + Silent SNP A A G rs149685696 by1000genomes TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr2:196749473A>G uc002utj.3 - 35 5700 c.5599T>C c.(5599-5601)TTG>CTG p.L1867L NM_018897 NP_061720 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 1867 ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity skin(10)|ovary(2) 12 TTAAATTTCAATCGATCATCA 0.358 NA 11 34 0 0 0 0 PARD3B 117583 broad.mit.edu 37 2 205986412 205986412 + Missense_Mutation SNP G G A TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr2:205986412G>A uc002var.1 + 8 1111 c.904G>A c.(904-906)GGC>AGC p.G302S PARD3B_uc010fub.1_Missense_Mutation_p.G302S|PARD3B_uc002vao.1_Missense_Mutation_p.G302S|PARD3B_uc002vap.1_Missense_Mutation_p.G302S|PARD3B_uc002vaq.1_Missense_Mutation_p.G302S NM_152526 NP_689739 Q8TEW8 PAR3L_HUMAN par-3 partitioning defective 3 homolog B isoform 302 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) GTCAGTCATTGGCTCTCTTAA 0.463 NA 34 38 0 0 0 0 MDH1B 130752 broad.mit.edu 37 2 207620081 207620081 + Missense_Mutation SNP C C T TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr2:207620081C>T uc002vbs.2 - 5 617 c.562G>A c.(562-564)GCA>ACA p.A188T MDH1B_uc010ziw.1_Intron|MDH1B_uc010fui.2_Missense_Mutation_p.A188T|MDH1B_uc010fuj.2_Missense_Mutation_p.A90T|MDH1B_uc002vbt.2_Intron NM_001039845 NP_001034934 Q5I0G3 MDH1B_HUMAN malate dehydrogenase 1B, NAD (soluble) 188 carbohydrate metabolic process|malate metabolic process|tricarboxylic acid cycle binding|malate dehydrogenase activity ovary(3)|kidney(1) 4 LUSC - Lung squamous cell carcinoma(261;0.0763)|Epithelial(149;0.131)|Lung(261;0.145) ACGGGAGATGCCAGGTCTTGG 0.532 NA 17 31 0 0 0 0 CRYGB 1419 broad.mit.edu 37 2 209010545 209010545 + Missense_Mutation SNP A A G TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr2:209010545A>G uc002vcp.3 - 2 238 c.205T>C c.(205-207)TGG>CGG p.W69R NM_005210 NP_005201 P07316 CRGB_HUMAN crystallin, gamma B 69 Beta/gamma crystallin 'Greek key' 2. Susceptible to oxidation. visual perception structural constituent of eye lens 0 Epithelial(149;0.0641)|LUSC - Lung squamous cell carcinoma(261;0.0703)|Lung(261;0.132) AGGCCCATCCATTGCTGGTAG 0.572 NA 21 44 0 0 0 0 PIKFYVE 200576 broad.mit.edu 37 2 209153476 209153476 + Missense_Mutation SNP A A G TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr2:209153476A>G uc002vcz.2 + 7 1003 c.845A>G c.(844-846)AAT>AGT p.N282S PIKFYVE_uc010fun.1_5'UTR|PIKFYVE_uc002vcy.1_Missense_Mutation_p.N282S|PIKFYVE_uc002vcv.2_Missense_Mutation_p.N185S|PIKFYVE_uc002vcw.2_Missense_Mutation_p.N282S|PIKFYVE_uc002vcx.2_Missense_Mutation_p.N196S NM_015040 NP_055855 Q9Y2I7 FYV1_HUMAN phosphatidylinositol-3-phosphate 5-kinase type 282 cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi early endosome membrane|membrane raft 1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding ovary(5)|kidney(2)|pancreas(1)|central_nervous_system(1)|skin(1) 10 GATTCCTCAAATACTCCTCTT 0.358 NA 19 29 0 0 0 0 SMARCAL1 50485 broad.mit.edu 37 2 217279485 217279485 + Missense_Mutation SNP G G T TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr2:217279485G>T uc002vgc.3 + 3 388 c.58G>T c.(58-60)GCT>TCT p.A20S SMARCAL1_uc010fvf.2_RNA|SMARCAL1_uc002vgd.3_Missense_Mutation_p.A20S|SMARCAL1_uc010fvg.2_Missense_Mutation_p.A20S NM_014140 NP_054859 Q9NZC9 SMAL1_HUMAN SWI/SNF-related matrix-associated 20 Potential. chromatin modification|DNA metabolic process|regulation of transcription from RNA polymerase II promoter nucleus ATP binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity ovary(3)|breast(3)|skin(1) 7 Renal(323;0.0458) Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111) TCGACAAAAGGCTCTGGCCCG 0.493 NA Schimke_Immuno-Osseous_Dysplasia 53 75 6.82e-30 1.02e-29 1 0 ProSAPiP1 9762 broad.mit.edu 37 20 3147647 3147647 + Missense_Mutation SNP C C A TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr20:3147647C>A uc002wia.1 - 1 1561 c.163G>T c.(163-165)GTG>TTG p.V55L ProSAPiP1_uc002wib.1_Missense_Mutation_p.V55L NM_014731 NP_055546 O60299 PRIP1_HUMAN ProSAPiP1 protein 55 cell junction|cytoplasm|postsynaptic density|postsynaptic membrane pancreas(1) 1 CGGGTACCCACGCTCTTCATG 0.736 NA 11 12 1.59e-06 1.93e-06 1 0 TPX2 22974 broad.mit.edu 37 20 30363782 30363782 + Missense_Mutation SNP G G A TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr20:30363782G>A uc002wwp.1 + 8 1419 c.721G>A c.(721-723)GCT>ACT p.A241T TPX2_uc010gdv.1_Missense_Mutation_p.A241T NM_012112 NP_036244 Q9ULW0 TPX2_HUMAN TPX2, microtubule-associated protein homolog 241 activation of protein kinase activity|apoptosis|cell division|cell proliferation|mitosis|regulation of mitotic spindle organization cytoplasm|microtubule|nucleus|spindle pole ATP binding|GTP binding|protein kinase binding large_intestine(1)|ovary(1) 2 Epithelial(4;0.000771)|Colorectal(19;0.00306)|all cancers(5;0.004)|COAD - Colon adenocarcinoma(19;0.0347)|OV - Ovarian serous cystadenocarcinoma(3;0.0656) ACTTGCTCTGGCTGGAATAGG 0.388 NA 33 42 0 0 0 0 GHRH 2691 broad.mit.edu 37 20 35885221 35885221 + Silent SNP A A T TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr20:35885221A>T uc002xgr.2 - 1 72 c.72T>A c.(70-72)CCT>CCA p.P24P GHRH_uc002xgs.2_Silent_p.P24P|GHRH_uc002xgt.2_Silent_p.P24P NM_021081 NP_066567 P01286 SLIB_HUMAN growth hormone releasing hormone preproprotein 24 activation of adenylate cyclase activity by G-protein signaling pathway|adenohypophysis development|growth hormone secretion|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation|positive regulation of circadian sleep/wake cycle, REM sleep|positive regulation of growth hormone secretion|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of multicellular organism growth|response to food extracellular space|terminal button growth hormone-releasing hormone activity|growth hormone-releasing hormone receptor binding ovary(1) 1 Myeloproliferative disorder(115;0.00878) TGAGGGTCAAAGGGGGAGGTG 0.602 NA 10 36 0 0 0 0 MAFB 9935 broad.mit.edu 37 20 39316726 39316726 + Missense_Mutation SNP G G C TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr20:39316726G>C uc002xji.2 - 1 1151 c.765C>G c.(763-765)TGC>TGG p.C255W NM_005461 NP_005452 Q9Y5Q3 MAFB_HUMAN transcription factor MAFB 255 Basic motif. negative regulation of erythrocyte differentiation sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding 0 Myeloproliferative disorder(115;0.00878) GTTTATACCTGCAAGACTGGG 0.622 NA T IGH@ MM 31 31 0 0 0 0 PTPRT 11122 broad.mit.edu 37 20 40735527 40735527 + Missense_Mutation SNP T T C TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr20:40735527T>C uc002xkg.2 - 24 3473 c.3289A>G c.(3289-3291)ATT>GTT p.I1097V PTPRT_uc010ggj.2_Missense_Mutation_p.I1116V|PTPRT_uc010ggi.2_Missense_Mutation_p.I300V NM_007050 NP_008981 O14522 PTPRT_HUMAN protein tyrosine phosphatase, receptor type, T 1097 Tyrosine-protein phosphatase 1.|Cytoplasmic (Potential). homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway cell surface|integral to membrane|plasma membrane alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity skin(8)|ovary(7)|lung(5) 20 Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783) ATGGTGTCAATGGCAATGAAG 0.582 NA 53 34 0 0 0 0 ADA 100 broad.mit.edu 37 20 43251265 43251265 + Missense_Mutation SNP C C A TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr20:43251265C>A uc002xmj.2 - 9 937 c.809G>T c.(808-810)GGT>GTT p.G270V ADA_uc010ggt.2_Intron NM_000022 NP_000013 P00813 ADA_HUMAN adenosine deaminase 270 adenosine catabolic process|cell adhesion|hypoxanthine salvage|inosine biosynthetic process|negative regulation of adenosine receptor signaling pathway|purine nucleotide salvage|purine ribonucleoside monophosphate biosynthetic process|regulation of cell-cell adhesion mediated by integrin|response to hypoxia|T cell activation cell junction|cytoplasmic membrane-bounded vesicle lumen|cytosol|external side of plasma membrane|lysosome adenosine deaminase activity|protein binding|zinc ion binding pancreas(2)|ovary(1) 3 all_lung(126;1.24e-07)|Lung NSC(126;1.94e-07)|Myeloproliferative disorder(115;0.0122) COAD - Colon adenocarcinoma(18;0.00189) Adenosine(DB00640)|Cladribine(DB00242)|Dipyridamole(DB00975)|Erythromycin(DB00199)|Fludarabine(DB01073)|Idoxuridine(DB00249)|Nelarabine(DB01280)|Pentostatin(DB00552)|Theophylline(DB00277)|Vidarabine(DB00194) CTTCCAGGCACCAGTGAGGTA 0.592 NA Adenosine_Deaminase_Deficiency 20 14 4.35e-09 5.63e-09 1 0 NEURL2 140825 broad.mit.edu 37 20 44519214 44519214 + Silent SNP T T C TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr20:44519214T>C uc002xqg.1 - 1 688 c.417A>G c.(415-417)CCA>CCG p.P139P C20orf165_uc002xqf.2_5'Flank|CTSA_uc002xqh.2_5'Flank|CTSA_uc002xqj.3_5'Flank|CTSA_uc002xqi.2_5'Flank|CTSA_uc010zxi.1_5'Flank|CTSA_uc002xqk.3_5'Flank NM_080749 NP_542787 Q9BR09 NEUL2_HUMAN neuralized-like protein 2 139 NHR. intracellular signal transduction 0 Myeloproliferative disorder(115;0.0122) CGAGGAGGGTTGGAGGTCGGC 0.701 NA 28 20 0 0 0 0 SLC12A5 57468 broad.mit.edu 37 20 44685832 44685832 + Missense_Mutation SNP T T A TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr20:44685832T>A uc010zxl.1 + 25 3294 c.3218T>A c.(3217-3219)ATG>AAG p.M1073K SLC12A5_uc002xrb.2_Missense_Mutation_p.M1050K NM_001134771 NP_001128243 Q9H2X9 S12A5_HUMAN solute carrier family 12 (potassium-chloride 1073 Cytoplasmic (Potential). potassium ion transport|sodium ion transport integral to membrane potassium:chloride symporter activity ovary(2)|large_intestine(1)|central_nervous_system(1)|skin(1) 5 Myeloproliferative disorder(115;0.0122) Bumetanide(DB00887)|Potassium Chloride(DB00761) GTGCGGCGCATGCACACGGCC 0.637 NA 50 39 0 0 0 0 DOK5 55816 broad.mit.edu 37 20 53260098 53260098 + Silent SNP A A G TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr20:53260098A>G uc002xwy.2 + 7 1057 c.837A>G c.(835-837)GGA>GGG p.G279G DOK5_uc010gin.2_Silent_p.G171G|DOK5_uc002xwz.2_Silent_p.G141G NM_018431 NP_060901 Q9P104 DOK5_HUMAN docking protein 5 279 insulin receptor binding ovary(1) 1 Colorectal(105;0.202) ACAGCACGGGACAGCTCTACC 0.652 NA 10 45 0 0 0 0 NCAM2 4685 broad.mit.edu 37 21 22746287 22746287 + Silent SNP A A C TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr21:22746287A>C uc002yld.1 + 9 1398 c.1149A>C c.(1147-1149)GCA>GCC p.A383A NCAM2_uc011acb.1_Silent_p.A241A|NCAM2_uc011acc.1_Silent_p.A408A NM_004540 NP_004531 O15394 NCAM2_HUMAN neural cell adhesion molecule 2 precursor 383 Ig-like C2-type 4.|Extracellular (Potential). neuron cell-cell adhesion integral to membrane|plasma membrane ovary(4) 4 Lung NSC(9;0.195) all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174) GTGAAGCTGCAAGCAGAATTG 0.393 NA 12 43 0 0 0 0 SON 6651 broad.mit.edu 37 21 34923211 34923211 + Silent SNP G G T TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr21:34923211G>T uc002yse.1 + 3 1723 c.1674G>T c.(1672-1674)CTG>CTT p.L558L SON_uc002ysb.1_Silent_p.L558L|SON_uc002ysc.2_Silent_p.L558L|SON_uc002ysd.2_5'UTR|SON_uc002ysf.1_Intron|SON_uc002ysg.2_5'Flank NM_138927 NP_620305 P18583 SON_HUMAN SON DNA-binding protein isoform F 558 anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation nuclear speck DNA binding|double-stranded RNA binding ovary(4)|skin(2) 6 CGACAGCGCTGGAGTTGCCGG 0.647 NA 25 82 2.22e-12 3.02e-12 1 0 DSCAM 1826 broad.mit.edu 37 21 41450794 41450794 + Missense_Mutation SNP G G T TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr21:41450794G>T uc002yyq.1 - 26 4983 c.4531C>A c.(4531-4533)CTA>ATA p.L1511I DSCAM_uc002yyr.1_RNA NM_001389 NP_001380 O60469 DSCAM_HUMAN Down syndrome cell adhesion molecule isoform 1511 Extracellular (Potential).|Fibronectin type-III 6. cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction protein binding ovary(6)|skin(4)|upper_aerodigestive_tract(1) 11 all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103) CTGTACTCTAGTGTGAAGGAG 0.557 NA 8 28 0.000157383 0.000179846 1 0 FTCD 10841 broad.mit.edu 37 21 47557204 47557204 + Silent SNP G G A TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr21:47557204G>A uc002zif.2 - 13 1532 c.1488C>T c.(1486-1488)TTC>TTT p.F496F FTCD_uc002zie.2_RNA|FTCD_uc002zig.2_Silent_p.F496F|FTCD_uc002zih.2_Silent_p.F496F|FTCD_uc010gqf.2_Nonsense_Mutation_p.Q482*|FTCD_uc010gqg.1_Silent_p.F365F NM_006657 NP_006648 O95954 FTCD_HUMAN formiminotransferase cyclodeaminase 496 Cyclodeaminase/cyclohydrolase (By similarity). folic acid-containing compound metabolic process|histidine catabolic process centriole|cytosol|Golgi apparatus folic acid binding|formimidoyltetrahydrofolate cyclodeaminase activity|glutamate formimidoyltransferase activity pancreas(1)|skin(1) 2 Breast(49;0.214) Colorectal(79;0.235) L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116) TGAGCACGTTGAAATATGCGC 0.607 NA 45 131 0 0 0 0 CECR6 27439 broad.mit.edu 37 22 17601355 17601355 + Silent SNP G G T TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr22:17601355G>T uc002zmb.2 - 1 859 c.663C>A c.(661-663)GCC>GCA p.A221A CECR6_uc002zma.2_Intron|uc002zmc.2_5'Flank NM_031890 NP_114096 Q9BXQ6 CECR6_HUMAN cat eye syndrome chromosome region, candidate 6 221 0 all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132) Colorectal(9;0.221) GGTCGGTGACGGCGATGAGGT 0.706 NA 4 20 0.00909568 0.00976828 1 0 DGCR14 8220 broad.mit.edu 37 22 19121856 19121856 + Silent SNP G G T TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr22:19121856G>T uc002zou.2 - 10 1321 c.1284C>A c.(1282-1284)CTC>CTA p.L428L DGCR14_uc002zot.2_Silent_p.L349L|DGCR14_uc002zov.2_RNA NM_022719 NP_073210 Q96DF8 DGC14_HUMAN DiGeorge syndrome critical region protein 14 428 nervous system development catalytic step 2 spliceosome ovary(1) 1 Colorectal(54;0.0993) CCGGGGTCTTGAGGTGGGTGG 0.687 NA 10 30 7.48e-07 9.15e-07 1 0 ADORA2A 135 broad.mit.edu 37 22 24829704 24829704 + Missense_Mutation SNP G G T TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr22:24829704G>T uc002zzx.2 + 4 1095 c.332G>T c.(331-333)CGG>CTG p.R111L ADORA2A_uc002zzy.3_Missense_Mutation_p.R111L|ADORA2A_uc011ajs.1_Intron|C22orf45_uc003aaa.1_5'Flank|ADORA2A_uc010guo.1_3'UTR|ADORA2A_uc010gup.2_Missense_Mutation_p.R111L|ADORA2A_uc010guq.2_Missense_Mutation_p.R111L|ADORA2A_uc003aab.2_Missense_Mutation_p.R111L|ADORA2A_uc003aac.2_5'UTR NM_000675 NP_000666 P29274 AA2AR_HUMAN adenosine A2a receptor 111 Cytoplasmic. apoptosis|blood coagulation|cAMP biosynthetic process|cellular defense response|inflammatory response|nerve growth factor receptor signaling pathway|phagocytosis|sensory perception integral to plasma membrane|membrane fraction enzyme binding 0 Colorectal(2;0.196) Caffeine(DB00201)|Defibrotide(DB04932)|Pegademase bovine(DB00061)|Theophylline(DB00277) ATCCCGCTCCGGTGAGCAGGG 0.622 NA 10 46 1.09e-07 1.36e-07 1 0 MYO18B 84700 broad.mit.edu 37 22 26422934 26422934 + Missense_Mutation SNP G G T TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr22:26422934G>T uc003abz.1 + 43 7244 c.6994G>T c.(6994-6996)GAC>TAC p.D2332Y MYO18B_uc003aca.1_Missense_Mutation_p.D2213Y|MYO18B_uc010guy.1_Missense_Mutation_p.D2214Y|MYO18B_uc010guz.1_Missense_Mutation_p.D2212Y|MYO18B_uc011aka.1_Missense_Mutation_p.D1486Y|MYO18B_uc011akb.1_Missense_Mutation_p.D1845Y|MYO18B_uc010gva.1_Missense_Mutation_p.D315Y|MYO18B_uc010gvb.1_RNA NM_032608 NP_115997 Q8IUG5 MY18B_HUMAN myosin XVIIIB 2332 nucleus|sarcomere|unconventional myosin complex actin binding|ATP binding|motor activity ovary(5)|central_nervous_system(3)|large_intestine(2)|breast(2) 12 CATCTCTTCAGACGGTGTTGG 0.557 NA 18 67 1.03e-11 1.39e-11 1 0 EWSR1 2130 broad.mit.edu 37 22 29684763 29684763 + Missense_Mutation SNP G G T rs71329463 TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr22:29684763G>T uc003aet.2 + 8 1290 c.962G>T c.(961-963)CGC>CTC p.R321L EWSR1_uc003aes.3_Missense_Mutation_p.R321L|EWSR1_uc003aev.2_Missense_Mutation_p.R327L|EWSR1_uc003aew.2_Missense_Mutation_p.R265L|EWSR1_uc003aex.2_Missense_Mutation_p.R321L|EWSR1_uc003aey.2_Missense_Mutation_p.R116L|EWSR1_uc003aez.2_5'Flank NM_005243 NP_005234 Q01844 EWS_HUMAN Ewing sarcoma breakpoint region 1 isoform 2 321 Arg/Gly/Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane calmodulin binding|nucleotide binding|RNA binding|zinc ion binding EWSR1/FLI1(2266)|EWSR1/ATF1(323)|EWSR1/WT1(231)|EWSR1/ERG(162)|EWSR1/NR4A3(140)|EWSR1/DDIT3(43)|EWSR1/CREB1(42)|EWSR1/FEV(10)|EWSR1/POU5F1(10)|EWSR1/ETV1(7)|EWSR1/ETV4(6)|EWSR1/ZNF384(4)|EWSR1/PBX1(3)|EWSR1/SP3(3)|EWSR1/PATZ1(2) bone(2526)|soft_tissue(702)|skin(8)|autonomic_ganglia(4)|haematopoietic_and_lymphoid_tissue(4)|salivary_gland(2)|central_nervous_system(2)|NS(2)|pancreas(2)|lung(1)|ovary(1) 3254 GGAGGAGGACGCGGTGGAATG 0.512 NA T FLI1|ERG|ZNF278|NR4A3|FEV|ATF1|ETV1|ETV4|WT1|ZNF384|CREB1|POU5F1| PBX1 Ewing sarcoma| desmoplastic small round cell tumor |ALL|clear cell sarcoma|sarcoma|myoepithelioma 4 19 0.00909568 0.00976828 1 0 GAL3ST1 9514 broad.mit.edu 37 22 30951150 30951150 + Silent SNP G G A TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr22:30951150G>A uc003aig.1 - 4 1202 c.1062C>T c.(1060-1062)GCC>GCT p.A354A GAL3ST1_uc003aih.1_Silent_p.A354A|GAL3ST1_uc003aii.1_Silent_p.A354A|GAL3ST1_uc010gvz.1_Silent_p.A354A NM_004861 NP_004852 Q99999 G3ST1_HUMAN galactose-3-O-sulfotransferase 1 354 Lumenal (Potential). protein N-linked glycosylation Golgi membrane|integral to plasma membrane|membrane fraction galactosylceramide sulfotransferase activity 0 GGATGGCGGCGGCGTCCACGG 0.716 NA 19 39 0 0 0 0 SLC5A4 6527 broad.mit.edu 37 22 32651265 32651265 + Missense_Mutation SNP G G C TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr22:32651265G>C uc003ami.2 - 1 54 c.52C>G c.(52-54)CCA>GCA p.P18A NM_014227 NP_055042 Q9NY91 SC5A4_HUMAN solute carrier family 5 (low affinity glucose 18 Cytoplasmic (Potential). carbohydrate transport|sodium ion transport integral to membrane symporter activity 0 TCAGACAATGGAGGTGGCTCT 0.522 NA OREG0003502 type=REGULATORY REGION|Gene=SLC5A4|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 71 209 0 0 0 0 CYP2D6 1565 broad.mit.edu 37 22 42525169 42525169 + Missense_Mutation SNP T T C TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr22:42525169T>C uc003bce.2 - 3 461 c.371A>G c.(370-372)TAT>TGT p.Y124C uc003bcd.1_Intron|CYP2D6_uc010gyu.2_Intron|CYP2D6_uc003bcf.2_Intron NM_000106 NP_000097 Q6NWU0 Q6NWU0_HUMAN cytochrome P450, family 2, subfamily D, 124 electron carrier activity|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen breast(1)|skin(1) 2 CGCGGGCCCATAGCGCGCCAG 0.682 NA 19 33 0 0 0 0 CYB5R3 1727 broad.mit.edu 37 22 43015836 43015836 + Silent SNP G G C TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr22:43015836G>C uc003bcz.2 - 9 933 c.849C>G c.(847-849)GCC>GCG p.A283A CYB5R3_uc010gzc.1_Silent_p.A157A|CYB5R3_uc003bcw.2_Silent_p.A273A|CYB5R3_uc011aps.1_Silent_p.A316A|CYB5R3_uc003bcy.2_Silent_p.A260A|CYB5R3_uc003bcx.2_Silent_p.A260A NM_000398 NP_000389 P00387 NB5R3_HUMAN cytochrome b5 reductase 3 isoform m 283 blood circulation|cholesterol biosynthetic process|water-soluble vitamin metabolic process endoplasmic reticulum membrane|hemoglobin complex|mitochondrial outer membrane cytochrome-b5 reductase activity skin(1) 1 NADH(DB00157) TGGGAAGGCAGGCGTACTGGA 0.682 NA 6 17 0 0 0 0 IL17REL 400935 broad.mit.edu 37 22 50439538 50439538 + Missense_Mutation SNP G G C rs147243670 TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr22:50439538G>C uc003bje.1 - 4 314 c.82C>G c.(82-84)CGT>GGT p.R28G NM_001001694 NP_001001694 Q6ZVW7 I17EL_HUMAN interleukin 17 receptor E-like 28 pancreas(1) 1 all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236) BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247) GCGCGTACACGCAGGAGCATC 0.652 NA 8 14 0 0 0 0 CHKB 1120 broad.mit.edu 37 22 51018496 51018496 + Silent SNP C C G TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr22:51018496C>G uc003bms.2 - 8 1052 c.834G>C c.(832-834)GGG>GGC p.G278G CPT1B_uc003bmk.3_5'Flank|CPT1B_uc003bml.2_5'Flank|CPT1B_uc003bmm.2_5'Flank|CPT1B_uc003bmo.2_5'Flank|CPT1B_uc011asa.1_5'Flank|CPT1B_uc003bmn.2_5'Flank|CPT1B_uc011asb.1_5'Flank|CHKB-CPT1B_uc003bmp.2_5'Flank|CHKB-CPT1B_uc003bmt.1_Silent_p.G69G|CHKB-CPT1B_uc003bmu.2_Silent_p.G157G|CHKB_uc003bmv.2_Silent_p.G278G|LOC100144603_uc003bmw.3_5'Flank NM_005198 NP_005189 Q9Y259 CHKB_HUMAN choline kinase beta 278 phosphatidylethanolamine biosynthetic process ATP binding|choline kinase activity|ethanolamine kinase activity 0 all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) all cancers(3;4.04e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.79e-74)|Epithelial(4;6.17e-70)|GBM - Glioblastoma multiforme(4;5.68e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.205) Choline(DB00122) AAAAATGGTTCCCAATGTCAA 0.493 NA 37 104 0 0 0 0 GRIP2 80852 broad.mit.edu 37 3 14555833 14555833 + Missense_Mutation SNP A A C TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr3:14555833A>C uc011avi.1 - 13 1754 c.1754T>G c.(1753-1755)GTG>GGG p.V585G GRIP2_uc010heh.2_5'Flank|GRIP2_uc011avh.1_Missense_Mutation_p.V116G NM_001080423 NP_001073892 Q9C0E4 GRIP2_HUMAN glutamate receptor interacting protein 2 487 PDZ 4. synaptic transmission cytosol|plasma membrane protein binding pancreas(1) 1 GATGAAGCACACGAGGGGTGG 0.602 NA 3 3 0 0 0 0 OXSM 54995 broad.mit.edu 37 3 25835674 25835674 + Missense_Mutation SNP G G A TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr3:25835674G>A uc003cdn.2 + 3 1176 c.1069G>A c.(1069-1071)GCT>ACT p.A357T OXSM_uc011awp.1_Missense_Mutation_p.A82T|OXSM_uc010hfh.2_Missense_Mutation_p.A274T NM_017897 NP_060367 Q9NWU1 OXSM_HUMAN 3-oxoacyl-ACP synthase, mitochondrial isoform 1 357 acyl-CoA metabolic process|medium-chain fatty acid biosynthetic process|short-chain fatty acid biosynthetic process mitochondrion 3-oxoacyl-[acyl-carrier-protein] synthase activity ovary(1)|breast(1) 2 ATTGGGAGATGCTGCTGAAAA 0.453 NA 18 21 0 0 0 0 DCLK3 85443 broad.mit.edu 37 3 36779796 36779796 + Missense_Mutation SNP C C A TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr3:36779796C>A uc003cgi.2 - 2 846 c.355G>T c.(355-357)GCA>TCA p.A119S NM_033403 NP_208382 Q9C098 DCLK3_HUMAN doublecortin-like kinase 3 119 cytoplasm|nucleus ATP binding|protein serine/threonine kinase activity lung(3)|large_intestine(2)|breast(1)|skin(1)|ovary(1)|kidney(1) 9 TCTCCCCTTGCGTGCCTCTCT 0.567 NA 54 109 6.3e-33 9.46e-33 1 0 XIRP1 165904 broad.mit.edu 37 3 39228156 39228156 + Missense_Mutation SNP C C A TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr3:39228156C>A uc003cjk.1 - 2 3002 c.2781G>T c.(2779-2781)CAG>CAT p.Q927H XIRP1_uc003cji.2_Missense_Mutation_p.Q927H|XIRP1_uc003cjj.2_Intron NM_194293 NP_919269 Q702N8 XIRP1_HUMAN xin actin-binding repeat containing 1 927 actin binding ovary(4)|breast(2)|central_nervous_system(1)|pancreas(1) 8 KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065) TGGCCAACAGCTGCACGCTGC 0.647 NA 26 40 1.79e-09 2.32e-09 1 0 ZNF621 285268 broad.mit.edu 37 3 40570897 40570897 + Missense_Mutation SNP G G C TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr3:40570897G>C uc003ckm.2 + 3 328 c.112G>C c.(112-114)GAG>CAG p.E38Q ZNF621_uc003ckn.2_Missense_Mutation_p.E38Q|ZNF621_uc003cko.2_Intron|ZNF621_uc011aze.1_Intron NM_001098414 NP_001091884 Q6ZSS3 ZN621_HUMAN zinc finger protein 621 38 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(284;0.0515)|Kidney(284;0.0648) CCTGTACGGGGAGGTGATGCT 0.527 NA 44 91 0 0 0 0 ARIH2 10425 broad.mit.edu 37 3 49020700 49020700 + Silent SNP C C G TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr3:49020700C>G uc003cvb.2 + 16 1791 c.1479C>G c.(1477-1479)ACC>ACG p.T493T ARIH2_uc003cvc.2_Silent_p.T493T|ARIH2_uc003cvf.2_Silent_p.T411T|ARIH2_uc010hkl.2_Silent_p.T411T NM_006321 NP_006312 O95376 ARI2_HUMAN ariadne homolog 2 493 developmental cell growth|hemopoietic stem cell proliferation|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding ovary(1) 1 BRCA - Breast invasive adenocarcinoma(193;9.42e-05)|Kidney(197;0.00258)|KIRC - Kidney renal clear cell carcinoma(197;0.00269) TCCATGACACCTAAGTTGGGA 0.547 NA 49 125 0 0 0 0 BSN 8927 broad.mit.edu 37 3 49691751 49691751 + Missense_Mutation SNP C C G TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr3:49691751C>G uc003cxe.3 + 5 4876 c.4762C>G c.(4762-4764)CAG>GAG p.Q1588E NM_003458 NP_003449 Q9UPA5 BSN_HUMAN bassoon protein 1588 synaptic transmission cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome metal ion binding ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1) 8 BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336) TACTGAAACCCAGCCCACCAC 0.627 NA 18 33 0 0 0 0 SEMA3B 7869 broad.mit.edu 37 3 50314079 50314079 + Missense_Mutation SNP G G A TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr3:50314079G>A uc003cyu.2 + 19 2434 c.2192G>A c.(2191-2193)AGG>AAG p.R731K SEMA3B_uc003cyt.2_Missense_Mutation_p.R730K|SEMA3B_uc003cyv.2_Missense_Mutation_p.R618K|SEMA3B_uc003cyw.2_Missense_Mutation_p.R454K|SEMA3B_uc010hli.2_Missense_Mutation_p.R623K|SEMA3B_uc003cyx.2_Missense_Mutation_p.R617K|SEMA3B_uc003cyy.2_Missense_Mutation_p.R388K|SEMA3B_uc011bdo.1_Missense_Mutation_p.R388K|C3orf45_uc003cyz.2_5'Flank NM_004636 NP_004627 Q13214 SEM3B_HUMAN semaphorin 3B isoform 1 precursor 731 Arg-rich (basic). axon guidance|cell-cell signaling endoplasmic reticulum|extracellular region|membrane receptor activity lung(2)|central_nervous_system(2)|kidney(1)|skin(1) 6 BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605) CGTAACCGGAGGACCCACGCC 0.721 NA 3 9 0 0 0 0 DNAH1 25981 broad.mit.edu 37 3 52428568 52428568 + Silent SNP C C A TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr3:52428568C>A uc011bef.1 + 67 10975 c.10714C>A c.(10714-10716)CGA>AGA p.R3572R DNAH1_uc003ddv.2_Silent_p.R430R NM_015512 NP_056327 Q9P2D7 DYH1_HUMAN dynein, axonemal, heavy chain 1 3637 ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity large_intestine(3) 3 BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) CCGGGCTTGGCGAGACATCCT 0.572 NA 11 31 3.07e-06 3.68e-06 1 0 ITIH4 3700 broad.mit.edu 37 3 52857966 52857966 + Missense_Mutation SNP C C T TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr3:52857966C>T uc003dfz.2 - 10 1262 c.1226G>A c.(1225-1227)CGG>CAG p.R409Q ITIH4_uc011bel.1_Missense_Mutation_p.R139Q|ITIH4_uc003dfy.2_Missense_Mutation_p.R273Q|ITIH4_uc011bem.1_Missense_Mutation_p.R409Q|ITIH4_uc011ben.1_Missense_Mutation_p.R409Q NM_002218 NP_002209 Q14624 ITIH4_HUMAN inter-alpha (globulin) inhibitor H4 409 VWFA. acute-phase response|hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity ovary(2)|central_nervous_system(1) 3 BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496) GAGGCTGTACCGGCCACTTAC 0.582 NA 17 23 0 0 0 0 CNTN3 5067 broad.mit.edu 37 3 74347306 74347306 + Missense_Mutation SNP C C G TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr3:74347306C>G uc003dpm.1 - 17 2283 c.2203G>C c.(2203-2205)GGG>CGG p.G735R NM_020872 NP_065923 Q9P232 CNTN3_HUMAN contactin 3 precursor 735 Fibronectin type-III 2. 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) ACAACATACCCAAAACCTTCA 0.458 NA 8 24 0 0 0 0 VGLL3 389136 broad.mit.edu 37 3 87018113 87018113 + Silent SNP C C A TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr3:87018113C>A uc003dqn.2 - 3 928 c.564G>T c.(562-564)CCG>CCT p.P188P NM_016206 NP_057290 A8MV65 VGLL3_HUMAN colon carcinoma related protein 188 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus 0 all_cancers(8;0.109)|Lung SC(3;0.184) Lung NSC(201;0.0777) LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712) GGTTGTGTCCCGGCCAAGGAC 0.597 NA 37 50 8.74e-17 1.25e-16 1 0 OR5K4 403278 broad.mit.edu 37 3 98072954 98072954 + Missense_Mutation SNP T T A TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr3:98072954T>A uc011bgv.1 + 1 257 c.257T>A c.(256-258)TTT>TAT p.F86Y NM_001005517 NP_001005517 A6NMS3 OR5K4_HUMAN olfactory receptor, family 5, subfamily K, 86 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1) 1 GAGAATTTCTTTTCTGAGGAT 0.438 NA 115 268 0 0 0 0 KIAA1524 57650 broad.mit.edu 37 3 108270064 108270064 + Missense_Mutation SNP T T C TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr3:108270064T>C uc003dxb.3 - 21 2919 c.2650A>G c.(2650-2652)ATG>GTG p.M884V NM_020890 NP_065941 Q8TCG1 CIP2A_HUMAN p90 autoantigen 884 cytoplasm|integral to membrane protein binding ovary(2)|central_nervous_system(1) 3 ATTGCTATCATGTGGGAGTGT 0.378 NA 10 45 0 0 0 0 SEC61A1 29927 broad.mit.edu 37 3 127783841 127783841 + Silent SNP C C T TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr3:127783841C>T uc003ekb.2 + 8 922 c.738C>T c.(736-738)ATC>ATT p.I246I RUVBL1_uc003eke.2_3'UTR|RUVBL1_uc003ekf.2_3'UTR|SEC61A1_uc003ekc.2_Silent_p.I193I|SEC61A1_uc003ekd.2_Silent_p.I126I|SEC61A1_uc003ekg.2_Intron NM_013336 NP_037468 P61619 S61A1_HUMAN Sec61 alpha 1 subunit 246 Helical; (Potential). protein targeting to ER integral to endoplasmic reticulum membrane P-P-bond-hydrolysis-driven protein transmembrane transporter activity|protein binding|ribosome binding ovary(1) 1 TGAATCTCATCGCCACCATCT 0.512 NA 31 115 0 0 0 0 PLXND1 23129 broad.mit.edu 37 3 129304823 129304823 + Missense_Mutation SNP G G A TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr3:129304823G>A uc003emx.2 - 5 1923 c.1823C>T c.(1822-1824)TCC>TTC p.S608F NM_015103 NP_055918 Q9Y4D7 PLXD1_HUMAN plexin D1 precursor 608 Extracellular (Potential). axon guidance integral to membrane|intracellular|plasma membrane p.S608S(1) large_intestine(1) 1 ATCGATCTCGGAAGGCAGGAC 0.657 NA 10 213 0 0 0 0 TMCC1 23023 broad.mit.edu 37 3 129389575 129389575 + Missense_Mutation SNP C C A TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr3:129389575C>A uc003emz.3 - 5 1610 c.1109G>T c.(1108-1110)AGA>ATA p.R370I TMCC1_uc003emy.3_Missense_Mutation_p.R46I|TMCC1_uc011blc.1_Missense_Mutation_p.R191I|TMCC1_uc010htg.2_Missense_Mutation_p.R256I NM_001017395 NP_001017395 O94876 TMCC1_HUMAN transmembrane and coiled-coil domain family 1 370 integral to membrane skin(1) 1 GGCAATCTCTCTGGGCTTTGA 0.527 NA 17 51 4.75e-09 6.13e-09 1 0 EPHB1 2047 broad.mit.edu 37 3 134911580 134911580 + Missense_Mutation SNP G G T TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr3:134911580G>T uc003eqt.2 + 11 2265 c.2045G>T c.(2044-2046)CGC>CTC p.R682L EPHB1_uc003equ.2_Missense_Mutation_p.R243L NM_004441 NP_004432 P54762 EPHB1_HUMAN ephrin receptor EphB1 precursor 682 Cytoplasmic (Potential).|Protein kinase. integral to plasma membrane ATP binding|ephrin receptor activity|protein binding lung(11)|ovary(6)|stomach(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|pancreas(1) 30 AACATCATTCGCCTGGAGGGT 0.537 NA 21 38 7.92e-27 1.18e-26 1 0 DBR1 51163 broad.mit.edu 37 3 137881194 137881194 + Missense_Mutation SNP T T A TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr3:137881194T>A uc003erv.2 - 8 1308 c.1172A>T c.(1171-1173)CAT>CTT p.H391L DBR1_uc003eru.2_Missense_Mutation_p.H340L|DBR1_uc003ert.2_Missense_Mutation_p.H159L NM_016216 NP_057300 Q9UK59 DBR1_HUMAN debranching enzyme homolog 1 391 nucleus metal ion binding|RNA lariat debranching enzyme activity 0 ACCACACACATGATGTTCTTC 0.408 NA 15 36 0 0 0 0 TRPC1 7220 broad.mit.edu 37 3 142523472 142523472 + Missense_Mutation SNP G G C TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr3:142523472G>C uc003evc.2 + 12 2290 c.2154G>C c.(2152-2154)AAG>AAC p.K718N TRPC1_uc003evb.2_Missense_Mutation_p.K684N NM_003304 NP_003295 P48995 TRPC1_HUMAN transient receptor potential cation channel, 718 axon guidance|cytosolic calcium ion homeostasis|positive regulation of release of sequestered calcium ion into cytosol|response to calcium ion cytosol|integral to plasma membrane protein binding|store-operated calcium channel activity ovary(2) 2 ACAGTTTAAAGGTAAGAAATT 0.303 NA 12 35 0 0 0 0 ZIC1 7545 broad.mit.edu 37 3 147131245 147131245 + Silent SNP G G T TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr3:147131245G>T uc003ewe.2 + 3 1970 c.1251G>T c.(1249-1251)CCG>CCT p.P417P NM_003412 NP_003403 Q15915 ZIC1_HUMAN zinc finger protein of the cerebellum 1 417 Ser-rich. behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|central_nervous_system(1) 2 CAGACAACCCGACCACAAGCT 0.592 NA 17 98 2.58e-16 3.68e-16 1 0 CLRN1 7401 broad.mit.edu 37 3 150659511 150659511 + Silent SNP G G T TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr3:150659511G>T uc003eyk.1 - 2 582 c.291C>A c.(289-291)ATC>ATA p.I97I CLRN1OS_uc011bny.1_Intron|CLRN1_uc003eyj.2_Silent_p.I21I|CLRN1_uc010hvj.1_RNA NM_174878 NP_777367 P58418 CLRN1_HUMAN clarin 1 isoform a 97 equilibrioception|photoreceptor cell maintenance|response to stimulus|sensory perception of sound integral to membrane 0 LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066) CATTGACGTGGATGCTCACTG 0.393 NA 10 22 0.000673444 0.000753027 1 0 SI 6476 broad.mit.edu 37 3 164725726 164725726 + Missense_Mutation SNP C C G rs145734588 byFrequency TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr3:164725726C>G uc003fei.2 - 36 4302 c.4240G>C c.(4240-4242)GAA>CAA p.E1414Q NM_001041 NP_001032 P14410 SUIS_HUMAN sucrase-isomaltase 1414 Sucrase.|Lumenal. 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) TAATTTAGTTCGTCATTTCTG 0.244 NA HNSCC(35;0.089) 23 48 0 0 0 0 BCHE 590 broad.mit.edu 37 3 165548790 165548790 + Missense_Mutation SNP C C A TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr3:165548790C>A uc003fem.3 - 2 192 c.32G>T c.(31-33)AGA>ATA p.R11I BCHE_uc003fen.3_Intron NM_000055 NP_000046 P06276 CHLE_HUMAN butyrylcholinesterase precursor 11 choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic endoplasmic reticulum lumen|extracellular space|membrane acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding ovary(3)|pancreas(1) 4 Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116) AAAGAGAAATCTGATGCATAT 0.333 NA 10 22 0.000673444 0.000753027 1 0 SKIL 6498 broad.mit.edu 37 3 170078601 170078601 + Missense_Mutation SNP G G T TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr3:170078601G>T uc003fgu.2 + 2 1194 c.482G>T c.(481-483)GGA>GTA p.G161V SKIL_uc011bps.1_Missense_Mutation_p.G141V|SKIL_uc003fgv.2_Missense_Mutation_p.G161V|SKIL_uc003fgw.2_Missense_Mutation_p.G161V NM_005414 NP_005405 P12757 SKIL_HUMAN SKI-like isoform 1 161 cell cycle arrest|negative regulation of cell differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of axonogenesis|protein heterotrimerization|protein homotrimerization|regulation of apoptosis|regulation of apoptosis|response to antibiotic|response to growth factor stimulus|skeletal muscle tissue development cytoplasm|PML body chromatin binding|nucleotide binding|protein complex binding|protein domain specific binding|SMAD binding|transcription corepressor activity|transcription repressor activity ovary(2)|skin(1) 3 all_cancers(22;7.13e-23)|all_epithelial(15;9.95e-28)|all_lung(20;1.23e-16)|Lung NSC(18;5.15e-16)|Ovarian(172;0.000337)|Breast(254;0.137) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197) CAAGTTGGAGGAGAAAAGAGA 0.418 NA 32 98 5.6e-13 7.71e-13 1 0 TNIK 23043 broad.mit.edu 37 3 170945955 170945955 + Missense_Mutation SNP C C A TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr3:170945955C>A uc003fhh.2 - 3 524 c.179G>T c.(178-180)GGG>GTG p.G60V TNIK_uc003fhi.2_Missense_Mutation_p.G60V|TNIK_uc003fhj.2_Missense_Mutation_p.G60V|TNIK_uc003fhk.2_Missense_Mutation_p.G60V|TNIK_uc003fhl.2_Missense_Mutation_p.G60V|TNIK_uc003fhm.2_Missense_Mutation_p.G60V|TNIK_uc003fhn.2_Missense_Mutation_p.G60V|TNIK_uc003fho.2_Missense_Mutation_p.G60V NM_015028 NP_055843 Q9UKE5 TNIK_HUMAN TRAF2 and NCK interacting kinase isoform 1 60 Protein kinase. actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway cytoskeleton|nucleus|recycling endosome ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity ovary(4)|large_intestine(1) 5 all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122) LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14) GACACTTACCCCTGTGACATC 0.274 NA 15 51 4.75e-09 6.13e-09 1 0 FGFRL1 53834 broad.mit.edu 37 4 1018993 1018993 + Missense_Mutation SNP A A T TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr4:1018993A>T uc003gce.2 + 7 1534 c.1373A>T c.(1372-1374)CAC>CTC p.H458L FGFRL1_uc003gcf.2_Missense_Mutation_p.H458L|FGFRL1_uc003gcg.2_Missense_Mutation_p.H458L|FGFRL1_uc010ibo.2_Missense_Mutation_p.H458L NM_021923 NP_068742 Q8N441 FGRL1_HUMAN fibroblast growth factor receptor-like 1 458 Cytoplasmic (Potential). regulation of cell growth integral to membrane|plasma membrane fibroblast growth factor receptor activity|heparin binding 0 OV - Ovarian serous cystadenocarcinoma(23;0.0158) GCCCCCCAGCACTTACTGGGC 0.498 NA 6 19 0 0 0 0 LETM1 3954 broad.mit.edu 37 4 1827372 1827372 + Missense_Mutation SNP C C A TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr4:1827372C>A uc003gdv.2 - 7 1416 c.1119G>T c.(1117-1119)AAG>AAT p.K373N NM_012318 NP_036450 O95202 LETM1_HUMAN leucine zipper-EF-hand containing transmembrane 373 Mitochondrial matrix (Potential).|LETM1. cristae formation integral to membrane|mitochondrial inner membrane calcium ion binding|protein binding central_nervous_system(1) 1 all cancers(2;0.00756)|OV - Ovarian serous cystadenocarcinoma(23;0.00989)|Epithelial(3;0.0141) CCTGCAGCTCCTTGACATTCA 0.577 NA 12 37 3.07e-06 3.68e-06 1 0 JAKMIP1 152789 broad.mit.edu 37 4 6107640 6107640 + Missense_Mutation SNP G G T TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr4:6107640G>T uc003giu.3 - 3 460 c.184C>A c.(184-186)CAG>AAG p.Q62K JAKMIP1_uc010idb.1_Missense_Mutation_p.Q62K|JAKMIP1_uc010idc.1_Intron|JAKMIP1_uc010idd.1_Missense_Mutation_p.Q62K|JAKMIP1_uc011bwc.1_Intron|JAKMIP1_uc003giv.3_Missense_Mutation_p.Q62K|JAKMIP1_uc010ide.2_Missense_Mutation_p.Q62K NM_144720 NP_653321 Q96N16 JKIP1_HUMAN janus kinase and microtubule interacting protein 62 Potential.|Mediates association with microtubules. protein transport cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex GABA receptor binding|RNA binding large_intestine(1)|pancreas(1)|ovary(1)|skin(1) 4 TGCCGTCGCTGCTCCTGCTCG 0.602 NA 20 35 5.26e-13 7.25e-13 1 0 SLIT2 9353 broad.mit.edu 37 4 20493400 20493400 + Missense_Mutation SNP G G C TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr4:20493400G>C uc003gpr.1 + 9 996 c.792G>C c.(790-792)ATG>ATC p.M264I SLIT2_uc003gps.1_Missense_Mutation_p.M264I NM_004787 NP_004778 O94813 SLIT2_HUMAN slit homolog 2 precursor 264 LRRNT 2. apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development cell surface|cytoplasm|extracellular space|plasma membrane calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding central_nervous_system(4)|skin(4)|ovary(3) 11 AGTCATTTATGGCTCCTTCTT 0.403 NA 29 108 0 0 0 0 TBC1D1 23216 broad.mit.edu 37 4 38047458 38047458 + Silent SNP G G A TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr4:38047458G>A uc003gtb.2 + 10 1906 c.1563G>A c.(1561-1563)CTG>CTA p.L521L TBC1D1_uc011byd.1_Silent_p.L521L|TBC1D1_uc010ifd.2_Silent_p.L268L|TBC1D1_uc011byf.1_Silent_p.L392L NM_015173 NP_055988 Q86TI0 TBCD1_HUMAN TBC1 (tre-2/USP6, BUB2, cdc16) domain family, 521 nucleus Rab GTPase activator activity ovary(1) 1 CCAGAGGCCTGCAGGAACACT 0.443 NA 26 87 0 0 0 0 KLB 152831 broad.mit.edu 37 4 39436011 39436011 + Missense_Mutation SNP G G T TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr4:39436011G>T uc003gua.2 + 2 1104 c.1007G>T c.(1006-1008)GGG>GTG p.G336V KLB_uc011byj.1_Missense_Mutation_p.G336V NM_175737 NP_783864 Q86Z14 KLOTB_HUMAN klotho beta 336 Extracellular (Potential).|Glycosyl hydrolase-1 1. carbohydrate metabolic process integral to membrane|plasma membrane cation binding|fibroblast growth factor binding|hydrolase activity, hydrolyzing O-glycosyl compounds skin(1) 1 CCTATCCATGGGGATGGCGAC 0.468 NA 23 69 1.5e-11 2.02e-11 1 0 COX7B2 170712 broad.mit.edu 37 4 46737052 46737052 + Missense_Mutation SNP G G A TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr4:46737052G>A uc003gxf.2 - 3 338 c.158C>T c.(157-159)ACA>ATA p.T53I COX7B2_uc010ige.2_RNA NM_130902 NP_570972 Q8TF08 CX7B2_HUMAN cytochrome c oxidase subunit VIIb2 precursor 53 Helical; (By similarity). integral to membrane|mitochondrial respiratory chain cytochrome-c oxidase activity 0 AAACACCCATGTAGCAACACA 0.433 NA 22 61 0 0 0 0 GABRA4 2557 broad.mit.edu 37 4 46981101 46981101 + Missense_Mutation SNP C C A TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr4:46981101C>A uc003gxg.2 - 3 359 c.220G>T c.(220-222)GTG>TTG p.V74L NM_000809 NP_000800 P48169 GBRA4_HUMAN gamma-aminobutyric acid A receptor, alpha 4 74 Extracellular (Probable). gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity ovary(2)|upper_aerodigestive_tract(1)|breast(1) 4 Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) TCAGTTTTCACTTCTGTAACA 0.343 NA 14 32 1.5e-05 1.76e-05 1 0 NFXL1 152518 broad.mit.edu 37 4 47853907 47853907 + Missense_Mutation SNP G G T TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr4:47853907G>T uc010igh.2 - 21 2651 c.2474C>A c.(2473-2475)ACA>AAA p.T825K NFXL1_uc003gxo.2_Missense_Mutation_p.T150K|NFXL1_uc003gxp.2_Missense_Mutation_p.T825K|NFXL1_uc003gxq.3_RNA|NFXL1_uc010igi.2_Missense_Mutation_p.T825K NM_152995 NP_694540 Q6ZNB6 NFXL1_HUMAN nuclear transcription factor, X-box binding-like 825 Potential. integral to membrane|nucleus sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|lung(1)|skin(1) 3 CTTGCACGTTGTGTCACATTC 0.353 NA 18 72 1.16e-05 1.37e-05 1 0 CNGA1 1259 broad.mit.edu 37 4 47939007 47939007 + Missense_Mutation SNP G G T TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr4:47939007G>T uc003gxt.3 - 11 1770 c.1504C>A c.(1504-1506)CCT>ACT p.P502T uc003gxr.1_Intron|CNGA1_uc003gxu.2_Missense_Mutation_p.P571T NM_000087 NP_000078 P29973 CNGA1_HUMAN cyclic nucleotide gated channel alpha 1 isoform 502 cGMP (Potential).|Cytoplasmic (Potential). response to stimulus|visual perception integral to plasma membrane cGMP binding|ion channel activity ovary(2) 2 TAATCTCCAGGACTGTAGACT 0.438 NA 19 106 5.04e-11 6.73e-11 1 0 SGCB 6443 broad.mit.edu 37 4 52895089 52895089 + Splice_Site SNP T T A TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr4:52895089T>A uc003gzj.2 - 4 490 c.430_splice c.e4-1 p.I144_splice SGCB_uc011bzp.1_Splice_Site_p.I74_splice NM_000232 NP_000223 Q16585 SGCB_HUMAN sarcoglycan, beta cytoskeleton organization|muscle organ development cytoplasm|cytoskeleton|integral to plasma membrane|sarcoglycan complex|sarcolemma 0 GBM - Glioblastoma multiforme(4;7.63e-12)|LUSC - Lung squamous cell carcinoma(32;0.00204) AAAAACAATCTTCAAAAAAAA 0.294 NA 8 32 0 0 0 0 USP46 64854 broad.mit.edu 37 4 53494256 53494256 + Missense_Mutation SNP C C A TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr4:53494256C>A uc003gzn.2 - 3 377 c.192G>T c.(190-192)TTG>TTT p.L64F USP46_uc003gzm.3_Missense_Mutation_p.L57F|USP46_uc011bzr.1_Missense_Mutation_p.L41F|USP46_uc011bzs.1_5'UTR NM_022832 NP_073743 P62068 UBP46_HUMAN ubiquitin specific peptidase 46 isoform 1 64 behavior|protein deubiquitination|regulation of synaptic transmission, GABAergic|ubiquitin-dependent protein catabolic process protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity ovary(1) 1 LUSC - Lung squamous cell carcinoma(32;0.0295) CCTTGTATGCCAACACATTCT 0.517 NA 14 31 6.72e-11 8.94e-11 1 0 SCFD2 152579 broad.mit.edu 37 4 54179841 54179841 + Missense_Mutation SNP G G T rs138747864 TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr4:54179841G>T uc003gzu.2 - 3 1231 c.1097C>A c.(1096-1098)GCG>GAG p.A366E SCFD2_uc010igm.2_Missense_Mutation_p.A366E NM_152540 NP_689753 Q8WU76 SCFD2_HUMAN sec1 family domain containing 2 366 protein transport|vesicle docking involved in exocytosis ovary(2)|pancreas(1) 3 GBM - Glioblastoma multiforme(3;1.07e-26)|LUSC - Lung squamous cell carcinoma(32;0.0134) TCTGCTTGCCGCTTCCACTAG 0.468 NA 15 31 7.93e-07 9.68e-07 1 0 UGT2A1 10941 broad.mit.edu 37 4 70513300 70513300 + Silent SNP C C T TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr4:70513300C>T uc003hem.3 - 1 126 c.63G>A c.(61-63)GGG>GGA p.G21G UGT2A1_uc011caq.1_Silent_p.G21G|UGT2A1_uc010ihu.2_Silent_p.G21G|UGT2A1_uc010iht.2_Silent_p.G21G NM_006798 NP_006789 Q9Y4X1 UD2A1_HUMAN UDP glucuronosyltransferase 2 family, 21 Extracellular (Potential). detection of chemical stimulus|sensory perception of smell integral to membrane glucuronosyltransferase activity|glucuronosyltransferase activity ovary(1) 1 TCAAAACATTCCCACCAAGAG 0.388 NA 11 25 0 0 0 0 PPBP 5473 broad.mit.edu 37 4 74853045 74853045 + Missense_Mutation SNP G G A TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr4:74853045G>A uc003hhj.2 - 3 411 c.331C>T c.(331-333)CCC>TCC p.P111S NM_002704 NP_002695 P02775 CXCL7_HUMAN pro-platelet basic protein precursor 111 chemotaxis|defense response to bacterium|immune response|platelet activation|platelet degranulation|positive regulation of cell division extracellular space|platelet alpha granule lumen chemokine activity|glucose transmembrane transporter activity|growth factor activity ovary(2)|central_nervous_system(1)|skin(1) 4 Breast(15;0.00136) all cancers(17;0.00273)|Lung(101;0.196) TTGATTCTGGGAGCATCTGGG 0.428 NA 22 65 0 0 0 0 CNOT6L 246175 broad.mit.edu 37 4 78650155 78650155 + Missense_Mutation SNP C C T TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr4:78650155C>T uc011ccd.1 - 10 1236 c.1105G>A c.(1105-1107)GAT>AAT p.D369N CNOT6L_uc003hks.2_Missense_Mutation_p.D369N|CNOT6L_uc003hkt.1_Missense_Mutation_p.D212N NM_144571 NP_653172 Q96LI5 CNO6L_HUMAN CCR4-NOT transcription complex, subunit 6-like 369 nuclear-transcribed mRNA poly(A) tail shortening cytosol exonuclease activity|protein binding large_intestine(1) 1 AGCTTCACATCAGAATACTCT 0.428 NA 40 95 0 0 0 0 ARHGAP24 83478 broad.mit.edu 37 4 86915782 86915782 + Silent SNP T T C TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr4:86915782T>C uc003hpk.2 + 9 1424 c.975T>C c.(973-975)CAT>CAC p.H325H ARHGAP24_uc003hpl.2_Silent_p.H230H|ARHGAP24_uc010ikf.2_Silent_p.H240H|ARHGAP24_uc003hpm.2_Silent_p.H232H NM_001025616 NP_001020787 Q8N264 RHG24_HUMAN Rho GTPase activating protein 24 isoform 1 325 Rho-GAP. angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cell projection|cytoskeleton|cytosol|focal adhesion GTPase activator activity|protein binding 0 Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242) OV - Ovarian serous cystadenocarcinoma(123;0.000571) TTAGCAAACATGATTGCCTCT 0.418 NA 46 125 0 0 0 0 EGF 1950 broad.mit.edu 37 4 110902034 110902034 + Silent SNP G G A TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr4:110902034G>A uc003hzy.3 + 15 2726 c.2274G>A c.(2272-2274)AAG>AAA p.K758K EGF_uc011cfu.1_Silent_p.K716K|EGF_uc011cfv.1_Silent_p.K758K|EGF_uc010imk.2_5'UTR NM_001963 NP_001954 P01133 EGF_HUMAN epidermal growth factor precursor 758 Extracellular (Potential).|EGF-like 5. angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface integral to membrane|plasma membrane|platelet alpha granule lumen calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity ovary(1)|breast(1)|central_nervous_system(1)|skin(1) 4 Hepatocellular(203;0.0893) OV - Ovarian serous cystadenocarcinoma(123;9.87e-06) Sulindac(DB00605) TTTGCAAAAAGAGGCTTGGAA 0.438 NA 22 90 0 0 0 0 MAML3 55534 broad.mit.edu 37 4 140640738 140640738 + Silent SNP G G A TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr4:140640738G>A uc003ihz.1 - 7 3893 c.3141C>T c.(3139-3141)AGC>AGT p.S1047S MGST2_uc010ioi.1_Intron|MAML3_uc011chd.1_Silent_p.S515S NM_018717 NP_061187 Q96JK9 MAML3_HUMAN mastermind-like 3 1048 Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear speck transcription coactivator activity ovary(1) 1 all_hematologic(180;0.162) GGACTCCCTGGCTCAGGCCAG 0.647 NA 5 31 0 0 0 0 RNF150 57484 broad.mit.edu 37 4 141868813 141868813 + Silent SNP G G T TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr4:141868813G>T uc003iio.1 - 4 1539 c.885C>A c.(883-885)CCC>CCA p.P295P RNF150_uc010iok.1_Silent_p.P253P|RNF150_uc003iip.1_Silent_p.P295P NM_020724 NP_065775 Q9ULK6 RN150_HUMAN ring finger protein 150 precursor 295 Cytoplasmic (Potential).|RING-type; atypical. integral to membrane zinc ion binding ovary(1) 1 all_hematologic(180;0.162) CTCACCGGCAGGGCAGGATCC 0.562 NA 18 69 3.88e-16 5.49e-16 1 0 INPP4B 8821 broad.mit.edu 37 4 143130163 143130163 + Nonsense_Mutation SNP C C A TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr4:143130163C>A uc003iix.3 - 14 1448 c.853G>T c.(853-855)GAA>TAA p.E285* INPP4B_uc003iiw.3_Nonsense_Mutation_p.E285*|INPP4B_uc011chm.1_RNA|INPP4B_uc011chn.1_Nonsense_Mutation_p.E100*|INPP4B_uc011cho.1_RNA|INPP4B_uc011chp.1_Nonsense_Mutation_p.E156* NM_003866 NP_003857 O15327 INP4B_HUMAN inositol polyphosphate-4-phosphatase, type II, 285 signal transduction phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity ovary(1)|lung(1) 2 all_hematologic(180;0.158) TCACCAAGTTCTTTTATCTCC 0.363 NA 10 42 2.27e-07 2.81e-07 1 0 KIAA0922 23240 broad.mit.edu 37 4 154556600 154556600 + Silent SNP C C T TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr4:154556600C>T uc003inm.3 + 34 4483 c.4431C>T c.(4429-4431)GCC>GCT p.A1477A KIAA0922_uc010ipp.2_Silent_p.A1478A|KIAA0922_uc010ipq.2_Silent_p.A1246A NM_015196 NP_056011 A2VDJ0 T131L_HUMAN hypothetical protein LOC23240 isoform 2 1477 Cytoplasmic (Potential). integral to membrane upper_aerodigestive_tract(1)|ovary(1) 2 all_hematologic(180;0.093) Renal(120;0.118) TGAACTATGCCAATGGCTTCC 0.438 NA 21 67 0 0 0 0 DCHS2 54798 broad.mit.edu 37 4 155256021 155256021 + Missense_Mutation SNP C C G TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr4:155256021C>G uc003inw.2 - 8 1215 c.1215G>C c.(1213-1215)TTG>TTC p.L405F DCHS2_uc003inx.2_Missense_Mutation_p.L904F NM_017639 NP_060109 Q6V1P9 PCD23_HUMAN dachsous 2 isoform 1 405 Cadherin 3. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(3)|pancreas(1) 4 all_hematologic(180;0.208) Renal(120;0.0854) LUSC - Lung squamous cell carcinoma(193;0.107) AGTACTTACTCAAGGGCTCTC 0.373 NA 23 63 0 0 0 0 NAF1 92345 broad.mit.edu 37 4 164087774 164087774 + Missense_Mutation SNP G G A TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr4:164087774G>A uc003iqj.2 - 1 300 c.106C>T c.(106-108)CCT>TCT p.P36S NAF1_uc010iqw.1_Missense_Mutation_p.P36S|NAF1_uc003iqk.2_RNA NM_138386 NP_612395 Q96HR8 NAF1_HUMAN nuclear assembly factor 1 homolog isoform a 36 rRNA processing|snRNA pseudouridine synthesis cytoplasm|nucleus|small nucleolar ribonucleoprotein complex protein binding|snoRNA binding ovary(2) 2 all_hematologic(180;0.166) Prostate(90;0.109) CCTGGCACAGGGGCAGAGCCC 0.667 NA 8 18 0 0 0 0 ADAM29 11086 broad.mit.edu 37 4 175896769 175896769 + Silent SNP G G T TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr4:175896769G>T uc003iuc.2 + 5 763 c.93G>T c.(91-93)CCG>CCT p.P31P ADAM29_uc003iud.2_Silent_p.P31P|ADAM29_uc010irr.2_Silent_p.P31P|ADAM29_uc011cki.1_Silent_p.P31P NM_014269 NP_055084 Q9UKF5 ADA29_HUMAN ADAM metallopeptidase domain 29 preproprotein 31 P -> L (in a colorectal cancer sample; somatic mutation). proteolysis|spermatogenesis integral to plasma membrane metalloendopeptidase activity|zinc ion binding p.P31L(1) skin(5)|central_nervous_system(3)|ovary(3)|large_intestine(2)|lung(2)|pancreas(1) 16 Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286) ACAGCCCTCCGGATGTGGTGA 0.517 NA 25 54 4.4e-07 5.43e-07 1 0 WDR17 116966 broad.mit.edu 37 4 177056354 177056354 + Silent SNP T T C TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr4:177056354T>C uc003iuj.2 + 9 1422 c.1266T>C c.(1264-1266)GAT>GAC p.D422D WDR17_uc003iuk.2_Silent_p.D398D|WDR17_uc003ium.3_Silent_p.D398D|WDR17_uc003iul.1_Intron NM_170710 NP_733828 Q8IZU2 WDR17_HUMAN WD repeat domain 17 isoform 1 422 WD 6. ovary(2)|skin(2)|pancreas(1)|central_nervous_system(1) 6 Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232) AAGTCTGGGATATAAACACAT 0.383 NA 19 37 0 0 0 0 WDR17 116966 broad.mit.edu 37 4 177084375 177084375 + Missense_Mutation SNP A A T rs141454308 by1000genomes TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr4:177084375A>T uc003iuj.2 + 23 3149 c.2993A>T c.(2992-2994)GAG>GTG p.E998V WDR17_uc003iuk.2_Missense_Mutation_p.E974V|WDR17_uc003ium.3_Missense_Mutation_p.E974V|WDR17_uc003iul.1_Intron|WDR17_uc003iun.2_Missense_Mutation_p.E217V NM_170710 NP_733828 Q8IZU2 WDR17_HUMAN WD repeat domain 17 isoform 1 998 ovary(2)|skin(2)|pancreas(1)|central_nervous_system(1) 6 Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232) GTACTAGGAGAGTCTGCAGCA 0.408 NA 24 49 0 0 0 0 SLC12A7 10723 broad.mit.edu 37 5 1076277 1076277 + Missense_Mutation SNP C C A TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr5:1076277C>A uc003jbu.2 - 14 1889 c.1823G>T c.(1822-1824)CGT>CTT p.R608L NM_006598 NP_006589 Q9Y666 S12A7_HUMAN solute carrier family 12 (potassium/chloride 608 Cytoplasmic (Potential). potassium ion transport|sodium ion transport integral to plasma membrane potassium:chloride symporter activity skin(2)|large_intestine(1)|ovary(1) 4 Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09) Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165) Potassium Chloride(DB00761) GAAGCGTGGACGCCAGTTGGG 0.642 NA 8 14 0.000673444 0.000753027 1 0 ADAMTS16 170690 broad.mit.edu 37 5 5146522 5146522 + Missense_Mutation SNP G G T TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr5:5146522G>T uc003jdl.2 + 3 593 c.455G>T c.(454-456)CGA>CTA p.R152L ADAMTS16_uc003jdk.1_Missense_Mutation_p.R152L|ADAMTS16_uc003jdj.1_Missense_Mutation_p.R152L NM_139056 NP_620687 Q8TE57 ATS16_HUMAN ADAM metallopeptidase with thrombospondin type 1 152 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(3)|lung(2)|large_intestine(1)|breast(1)|pancreas(1) 8 GGCTCTTTGCGATCACACAGA 0.537 NA 38 102 1.59e-26 2.35e-26 1 0 ADAMTS16 170690 broad.mit.edu 37 5 5306737 5306737 + Missense_Mutation SNP C C A TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr5:5306737C>A uc003jdl.2 + 21 3445 c.3307C>A c.(3307-3309)CTG>ATG p.L1103M NM_139056 NP_620687 Q8TE57 ATS16_HUMAN ADAM metallopeptidase with thrombospondin type 1 1103 TSP type-1 5. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(3)|lung(2)|large_intestine(1)|breast(1)|pancreas(1) 8 GAAGCCCAGCCTGGAGCTGGA 0.562 NA 15 47 1.52e-12 2.07e-12 1 0 ADCY2 108 broad.mit.edu 37 5 7521006 7521006 + Silent SNP C C A TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr5:7521006C>A uc003jdz.1 + 3 631 c.564C>A c.(562-564)GTC>GTA p.V188V NM_020546 NP_065433 Q08462 ADCY2_HUMAN adenylate cyclase 2 188 Helical; (Potential). VWQILANVIIFICGNLAGAY -> GLADPGQCDHFHLWEPG XTN (in Ref. 1; AAP97285). 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 AGCACCTGGTCTGGCAGGTGG 0.607 NA 18 64 8.34e-07 1.02e-06 1 0 SEMA5A 9037 broad.mit.edu 37 5 9119147 9119147 + Missense_Mutation SNP C C A TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr5:9119147C>A uc003jek.2 - 15 2600 c.1888G>T c.(1888-1890)GGG>TGG p.G630W NM_003966 NP_003957 Q13591 SEM5A_HUMAN semaphorin 5A precursor 630 TSP type-1 2.|Extracellular (Potential). cell adhesion|cell-cell signaling integral to membrane|plasma membrane ovary(1)|central_nervous_system(1) 2 ACCCGGCCCCCGTGCCTGGGA 0.677 NA 20 39 3.52e-12 4.76e-12 1 0 SEMA5A 9037 broad.mit.edu 37 5 9337825 9337825 + Missense_Mutation SNP C C A TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr5:9337825C>A uc003jek.2 - 4 936 c.224G>T c.(223-225)AGA>ATA p.R75I NM_003966 NP_003957 Q13591 SEM5A_HUMAN semaphorin 5A precursor 75 Sema.|Extracellular (Potential). cell adhesion|cell-cell signaling integral to membrane|plasma membrane ovary(1)|central_nervous_system(1) 2 TATCTCTCACCTTGCTCCTAC 0.423 NA 8 35 0.000274275 0.00031058 1 0 DNAH5 1767 broad.mit.edu 37 5 13758967 13758967 + Missense_Mutation SNP C C A TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr5:13758967C>A uc003jfd.2 - 61 10449 c.10407G>T c.(10405-10407)ATG>ATT p.M3469I DNAH5_uc003jfc.2_5'UTR NM_001369 NP_001360 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 3469 Stalk (By similarity).|Potential. microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1) 31 Lung NSC(4;0.00476) GCTTTTCAGTCATGGCCTGTT 0.532 NA Kartagener_syndrome 57 133 4.88e-21 7.14e-21 1 0 DNAH5 1767 broad.mit.edu 37 5 13786380 13786380 + Silent SNP G G A TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr5:13786380G>A uc003jfd.2 - 52 8770 c.8728C>T c.(8728-8730)CTG>TTG p.L2910L NM_001369 NP_001360 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 2910 microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1) 31 Lung NSC(4;0.00476) AACATATTCAGACGCTCTTTT 0.428 NA Kartagener_syndrome 14 48 0 0 0 0 CAPSL 133690 broad.mit.edu 37 5 35910057 35910057 + Missense_Mutation SNP G G A TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr5:35910057G>A uc003jjt.1 - 4 531 c.436C>T c.(436-438)CCA>TCA p.P146S CAPSL_uc003jju.1_Missense_Mutation_p.P146S NM_001042625 NP_001036090 Q8WWF8 CAPSL_HUMAN calcyphosine-like 146 EF-hand 3. cytoplasm calcium ion binding skin(1) 1 all_lung(31;0.000268) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.167)|Colorectal(62;0.202) TGGTACTTTGGGTGGTGTTTT 0.368 NA 28 87 0 0 0 0 UGT3A1 133688 broad.mit.edu 37 5 35965526 35965526 + Missense_Mutation SNP C C T TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr5:35965526C>T uc003jjv.1 - 4 962 c.805G>A c.(805-807)GGA>AGA p.G269R UGT3A1_uc003jjw.1_RNA|UGT3A1_uc011coq.1_Missense_Mutation_p.G269R|UGT3A1_uc011cor.1_Missense_Mutation_p.G235R|UGT3A1_uc003jjy.1_Missense_Mutation_p.G215R NM_152404 NP_689617 Q6NUS8 UD3A1_HUMAN UDP glycosyltransferase 3 family, polypeptide A1 269 Extracellular (Potential). integral to membrane glucuronosyltransferase activity ovary(2)|central_nervous_system(1) 3 all_lung(31;0.000197) Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) ATCAAGCCTCCAATATAAACA 0.428 NA 16 62 0 0 0 0 DAB2 1601 broad.mit.edu 37 5 39381644 39381644 + Silent SNP G G T TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr5:39381644G>T uc003jlx.2 - 11 1947 c.1416C>A c.(1414-1416)CCC>CCA p.P472P DAB2_uc003jlw.2_Silent_p.P451P NM_001343 NP_001334 P98082 DAB2_HUMAN disabled homolog 2 472 cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway clathrin coated vesicle membrane|coated pit protein C-terminus binding kidney(2)|skin(1) 3 all_lung(31;0.000197) Epithelial(62;0.137) GTTGTCCTGTGGGTGACGCCT 0.582 NA 32 77 9.65e-13 1.32e-12 1 0 HCN1 348980 broad.mit.edu 37 5 45303729 45303729 + Missense_Mutation SNP C C G TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr5:45303729C>G uc003jok.2 - 6 1615 c.1590G>C c.(1588-1590)ATG>ATC p.M530I NM_021072 NP_066550 O60741 HCN1_HUMAN hyperpolarization activated cyclic 530 cAMP.|Cytoplasmic (Potential). integral to membrane cAMP binding|sodium channel activity|voltage-gated potassium channel activity ovary(1) 1 CTGTCAGCTTCATTTCTTTAC 0.353 NA 16 66 0 0 0 0 HSPB3 8988 broad.mit.edu 37 5 53751686 53751686 + Nonsense_Mutation SNP C C T TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr5:53751686C>T uc003jph.1 + 1 242 c.67C>T c.(67-69)CGA>TGA p.R23* NM_006308 NP_006299 Q12988 HSPB3_HUMAN heat shock 27kDa protein 3 23 cell death|response to heat|response to unfolded protein cytoplasm|nucleus 0 Lung NSC(810;0.00104) GTTTGAAGCTCGAGGTCTAGA 0.502 NA 31 49 0 0 0 0 FBN2 2201 broad.mit.edu 37 5 127782271 127782271 + Silent SNP C C A TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr5:127782271C>A uc003kuu.2 - 7 1294 c.855G>T c.(853-855)GGG>GGT p.G285G FBN2_uc003kuv.2_Silent_p.G252G|FBN2_uc003kuw.3_Silent_p.G285G|FBN2_uc003kux.1_Silent_p.G285G NM_001999 NP_001990 P35556 FBN2_HUMAN fibrillin 2 precursor 285 EGF-like 4; 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) CTTGGCATATCCCTGGGATAG 0.393 NA 20 25 6.45e-10 8.49e-10 1 0 CSF2 1437 broad.mit.edu 37 5 131409633 131409633 + Silent SNP C C A TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr5:131409633C>A uc003kwf.2 + 1 149 c.117C>A c.(115-117)GCC>GCA p.A39A NM_000758 NP_000749 P04141 CSF2_HUMAN colony stimulating factor 2 precursor 39 immune response|negative regulation of cytolysis|positive regulation of DNA replication|positive regulation of interleukin-23 production|positive regulation of macrophage derived foam cell differentiation|positive regulation of podosome assembly|positive regulation of tyrosine phosphorylation of Stat5 protein extracellular space cytokine activity|granulocyte macrophage colony-stimulating factor receptor binding|growth factor activity 0 all_cancers(142;4.28e-07)|all_lung(232;2.81e-05)|Lung NSC(810;0.000693)|Lung SC(612;0.122)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) Sargramostim(DB00020) TCCAGGAGGCCCGGCGTCTCC 0.647 NA 21 45 4.97e-08 6.25e-08 1 0 CATSPER3 347732 broad.mit.edu 37 5 134345142 134345142 + Silent SNP C C A rs142712287 TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr5:134345142C>A uc003lag.2 + 6 966 c.898C>A c.(898-900)CGG>AGG p.R300R NM_178019 NP_821138 Q86XQ3 CTSR3_HUMAN cation channel, sperm associated 3 300 cell differentiation|multicellular organismal development|spermatogenesis cilium|flagellar membrane|integral to membrane calcium channel activity|voltage-gated ion channel activity ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) GATTCTGCAGCGGCAGCAGGA 0.562 NA 31 60 2.14e-07 2.66e-07 1 0 PCDHA6 56142 broad.mit.edu 37 5 140209910 140209910 + Missense_Mutation SNP T T A TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr5:140209910T>A uc003lho.2 + 1 2261 c.2234T>A c.(2233-2235)GTG>GAG p.V745E 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_uc011dab.1_Missense_Mutation_p.V745E NM_018909 NP_061732 Q9UN73 PCDA6_HUMAN protocadherin alpha 6 isoform 1 precursor 745 Cytoplasmic (Potential). homophilic cell adhesion|nervous system development extracellular region|integral to plasma membrane calcium ion binding|protein binding haematopoietic_and_lymphoid_tissue(1)|skin(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCCAGCGCAGTGGGGAGCTGG 0.677 NA 17 32 0 0 0 0 SLC6A7 6534 broad.mit.edu 37 5 149576820 149576820 + Missense_Mutation SNP C C A TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr5:149576820C>A uc003lrr.2 + 4 936 c.565C>A c.(565-567)CCC>ACC p.P189T NM_014228 NP_055043 Q99884 SC6A7_HUMAN solute carrier family 6, member 7 189 Extracellular (Potential). integral to plasma membrane|membrane fraction neurotransmitter:sodium symporter activity|proline:sodium symporter activity 0 all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) L-Proline(DB00172) CACCGTCAGCCCCAGCGAGGA 0.652 NA 13 27 0.00136819 0.00151496 1 0 SLC36A2 153201 broad.mit.edu 37 5 150696552 150696552 + Silent SNP C C T TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr5:150696552C>T uc003lty.2 - 10 1408 c.1278G>A c.(1276-1278)CTG>CTA p.L426L GM2A_uc011dcs.1_Intron|SLC36A2_uc003ltz.2_RNA|SLC36A2_uc003lua.2_Silent_p.L228L NM_181776 NP_861441 Q495M3 S36A2_HUMAN solute carrier family 36, member 2 426 Cytoplasmic (Potential). cellular nitrogen compound metabolic process cytoplasm|integral to membrane|plasma membrane glycine transmembrane transporter activity ovary(1)|central_nervous_system(1) 2 Medulloblastoma(196;0.109)|all_hematologic(541;0.243) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) TGGTGACCTCCAGGAGCGGTG 0.647 NA 9 17 0 0 0 0 NSD1 64324 broad.mit.edu 37 5 176709508 176709508 + Nonsense_Mutation SNP G G T TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr5:176709508G>T uc003mfr.3 + 19 6073 c.5935G>T c.(5935-5937)GAA>TAA p.E1979* NSD1_uc003mft.3_Nonsense_Mutation_p.E1710*|NSD1_uc011dfx.1_Nonsense_Mutation_p.E1627* NM_022455 NP_071900 Q96L73 NSD1_HUMAN nuclear receptor binding SET domain protein 1 1979 SET. negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding ovary(2)|kidney(1) 3 all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198) Kidney(146;0.235) TATAGATGAAGAAGAATGCAG 0.378 NA T NUP98 AML Sotos Syndrome Beckwith-Wiedemann_syndrome|Sotos_syndrome|Weaver_syndrome HNSCC(47;0.14) 33 65 5.92e-21 8.63e-21 1 0 NRN1 51299 broad.mit.edu 37 6 5999396 5999396 + Missense_Mutation SNP G G T TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr6:5999396G>T uc003mwu.2 - 3 893 c.242C>A c.(241-243)ACG>AAG p.T81K NRN1_uc003mwt.2_Missense_Mutation_p.T107K NM_016588 NP_057672 Q9NPD7 NRN1_HUMAN neuritin precursor 81 anchored to membrane|plasma membrane 0 Ovarian(93;0.0816) all_hematologic(90;0.151) OV - Ovarian serous cystadenocarcinoma(45;0.00415) CTGGCAATCCGTAAGGGCTGT 0.517 NA 12 57 7.93e-07 9.68e-07 1 0 PHACTR1 221692 broad.mit.edu 37 6 13053694 13053694 + Silent SNP G G A TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr6:13053694G>A uc010jpc.2 + 5 680 c.348G>A c.(346-348)CTG>CTA p.L116L PHACTR1_uc011dir.1_Silent_p.L116L|PHACTR1_uc003nag.1_Silent_p.L116L|PHACTR1_uc003nah.1_Silent_p.L116L NM_030948 NP_112210 Q9C0D0 PHAR1_HUMAN phosphatase and actin regulator 1 116 cell junction|cytoplasm|synapse actin binding|protein phosphatase inhibitor activity 0 Breast(50;0.0427)|Ovarian(93;0.12) all_hematologic(90;0.122)|Lung SC(78;0.195) Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239) TTGCCAACCTGGGAAGGATTT 0.507 NA 8 25 0 0 0 0 JARID2 3720 broad.mit.edu 37 6 15497018 15497018 + Missense_Mutation SNP C C G TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr6:15497018C>G uc003nbj.2 + 7 1806 c.1562C>G c.(1561-1563)TCC>TGC p.S521C JARID2_uc011diu.1_Missense_Mutation_p.S385C|JARID2_uc011div.1_Missense_Mutation_p.S349C|JARID2_uc011diw.1_Missense_Mutation_p.S483C NM_004973 NP_004964 Q92833 JARD2_HUMAN jumonji, AT rich interactive domain 2 protein 521 central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent chromatin binding ovary(2)|lung(1)|pancreas(1) 4 Breast(50;0.0142)|Ovarian(93;0.103) all_hematologic(90;0.00612) GACAGCGCCTCCTGTGAAAAT 0.677 NA 13 41 0 0 0 0 HIST1H3C 8352 broad.mit.edu 37 6 26045742 26045742 + Missense_Mutation SNP G G T TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr6:26045742G>T uc003nfv.2 + 1 104 c.104G>T c.(103-105)GGC>GTC p.G35V HIST1H2BB_uc003nfu.2_5'Flank NM_003531 NP_003522 P68431 H31_HUMAN histone cluster 1, H3c 35 blood coagulation|nucleosome assembly|regulation of gene silencing|S phase nucleoplasm|nucleosome DNA binding|protein binding ovary(1) 1 GCCACCGGTGGCGTGAAGAAA 0.627 NA 15 66 0.000219431 0.000250292 1 0 HIST1H3C 8352 broad.mit.edu 37 6 26046019 26046019 + Silent SNP G G T TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr6:26046019G>T uc003nfv.2 + 1 381 c.381G>T c.(379-381)CTG>CTT p.L127L HIST1H2BB_uc003nfu.2_5'Flank NM_003531 NP_003522 P68431 H31_HUMAN histone cluster 1, H3c 127 blood coagulation|nucleosome assembly|regulation of gene silencing|S phase nucleoplasm|nucleosome DNA binding|protein binding ovary(1) 1 ATATCCAGCTGGCACGTCGCA 0.502 NA 22 47 1.23e-08 1.57e-08 1 0 HIST1H4K 8362 broad.mit.edu 37 6 27799255 27799255 + Missense_Mutation SNP C C A TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr6:27799255C>A uc003njr.2 - 1 51 c.51G>T c.(49-51)AAG>AAT p.K17N NM_003541 NP_003532 P62805 H4_HUMAN histone cluster 1, H4k 17 CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance nucleoplasm|nucleosome DNA binding|protein binding 0 TACGGTGGCGCTTAGCGCCGC 0.642 NA 11 107 6.45e-10 8.49e-10 1 0 COL11A2 1302 broad.mit.edu 37 6 33133582 33133582 + Silent SNP G G T TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr6:33133582G>T uc003ocx.1 - 63 4722 c.4494C>A c.(4492-4494)GGC>GGA p.G1498G COL11A2_uc010jul.1_Silent_p.G68G|COL11A2_uc003ocy.1_Silent_p.G1412G|COL11A2_uc003ocz.1_Silent_p.G1391G NM_080680 NP_542411 P13942 COBA2_HUMAN collagen, type XI, alpha 2 isoform 1 1498 Triple-helical region. cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development collagen type XI extracellular matrix structural constituent conferring tensile strength|protein binding, bridging ovary(3)|skin(2) 5 GGATCACCTCGCCTGGGGGAC 0.627 NA 17 69 6.94e-10 9.11e-10 1 0 DNAH8 1769 broad.mit.edu 37 6 38867649 38867649 + Missense_Mutation SNP C C A TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr6:38867649C>A uc003ooe.1 + 60 9110 c.8510C>A c.(8509-8511)GCT>GAT p.A2837D NM_001371 NP_001362 dynein, axonemal, heavy polypeptide 8 skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1) 21 TCTTTTATTGCTGGCTATCAA 0.343 NA 4 18 2.56e-06 3.08e-06 1 0 LRFN2 57497 broad.mit.edu 37 6 40400710 40400710 + Missense_Mutation SNP G G A TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr6:40400710G>A uc003oph.1 - 2 608 c.143C>T c.(142-144)CCT>CTT p.P48L NM_020737 NP_065788 Q9ULH4 LRFN2_HUMAN leucine rich repeat and fibronectin type III 48 LRRNT.|Extracellular (Potential). cell junction|integral to membrane|postsynaptic membrane ovary(2)|skin(1) 3 Ovarian(28;0.0418)|Colorectal(47;0.196) GTCAATATCAGGGGGTACAAA 0.612 NA 17 54 0 0 0 0 ENPP5 59084 broad.mit.edu 37 6 46135435 46135435 + Missense_Mutation SNP C C A TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr6:46135435C>A uc003oxz.1 - 2 773 c.565G>T c.(565-567)GAC>TAC p.D189Y ENPP5_uc003oya.1_Missense_Mutation_p.D189Y|ENPP5_uc011dvz.1_Missense_Mutation_p.D95Y|ENPP5_uc010jzc.1_Missense_Mutation_p.D189Y NM_021572 NP_067547 Q9UJA9 ENPP5_HUMAN ectonucleotide pyrophosphatase/phosphodiesterase 189 extracellular region|integral to membrane hydrolase activity 0 TCATCAGGGTCTTCCCAATAG 0.418 NA 27 61 3.67e-16 5.21e-16 1 0 RCAN2 10231 broad.mit.edu 37 6 46214500 46214500 + Missense_Mutation SNP C C T TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr6:46214500C>T uc003oyb.1 - 3 733 c.418G>A c.(418-420)GCC>ACC p.A140T RCAN2_uc003oyc.1_Missense_Mutation_p.A186T|RCAN2_uc003oyd.1_Missense_Mutation_p.A186T NM_005822 NP_005813 Q14206 RCAN2_HUMAN Down syndrome critical region gene 1-like 1 140 calcium-mediated signaling|central nervous system development nucleotide binding|protein phosphatase 2B binding 0 CCTAGTTTGGCCACAGCATAG 0.493 NA 8 31 0 0 0 0 GPR111 222611 broad.mit.edu 37 6 47649740 47649740 + Missense_Mutation SNP A A G TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr6:47649740A>G uc010jzj.1 + 6 1446 c.1445A>G c.(1444-1446)TAT>TGT p.Y482C GPR111_uc010jzk.1_Missense_Mutation_p.Y414C|GPR111_uc003oyy.2_RNA NM_153839 NP_722581 Q8IZF7 GP111_HUMAN G-protein coupled receptor 111 482 Cytoplasmic (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity skin(1) 1 GAGATCACCTATTTACGCCAT 0.463 NA 15 60 0 0 0 0 DST 667 broad.mit.edu 37 6 56489356 56489356 + Missense_Mutation SNP T T C TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr6:56489356T>C uc003pdf.2 - 35 4830 c.4802A>G c.(4801-4803)GAT>GGT p.D1601G DST_uc003pcz.3_Missense_Mutation_p.D1423G|DST_uc011dxj.1_Missense_Mutation_p.D1452G|DST_uc011dxk.1_Missense_Mutation_p.D1463G|DST_uc003pcy.3_Missense_Mutation_p.D1097G|DST_uc003pdb.2_Missense_Mutation_p.D1097G|DST_uc003pdc.3_Missense_Mutation_p.D1097G|DST_uc003pdd.3_Missense_Mutation_p.D1097G NM_001144769 NP_001138241 Q03001 DYST_HUMAN dystonin isoform 2 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_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) CTTCAATGAATCACCAGCAAA 0.393 NA 8 35 0 0 0 0 PRIM2 5558 broad.mit.edu 37 6 57512689 57512689 + Missense_Mutation SNP G G T TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr6:57512689G>T uc003pdx.2 + 15 1604 c.1517G>T c.(1516-1518)AGT>ATT p.S506I NM_000947 NP_000938 P49643 PRI2_HUMAN DNA primase polypeptide 2 506 DNA replication, synthesis of RNA primer|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication alpha DNA polymerase:primase complex|nucleoplasm 4 iron, 4 sulfur cluster binding|DNA binding|DNA primase activity|metal ion binding 0 Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193) GATTACTTTAGTGAAGATTCT 0.343 NA 39 278 4.07e-28 6.06e-28 1 0 COL9A1 1297 broad.mit.edu 37 6 70952405 70952405 + Missense_Mutation SNP T T A TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr6:70952405T>A uc003pfg.3 - 29 2045 c.1886A>T c.(1885-1887)GAA>GTA p.E629V COL9A1_uc003pfe.3_Missense_Mutation_p.E202V|COL9A1_uc003pff.3_Missense_Mutation_p.E386V NM_001851 NP_001842 P20849 CO9A1_HUMAN alpha 1 type IX collagen isoform 1 precursor 629 Triple-helical region (COL2). axon guidance|cell adhesion|organ morphogenesis collagen type IX metal ion binding ovary(4) 4 TGGTCCTAATTCTCCTCTACT 0.348 NA 21 48 0 0 0 0 FILIP1 27145 broad.mit.edu 37 6 76023776 76023776 + Missense_Mutation SNP C C T TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr6:76023776C>T uc003pia.2 - 5 2145 c.1772G>A c.(1771-1773)TGC>TAC p.C591Y FILIP1_uc003phy.1_Missense_Mutation_p.C591Y|FILIP1_uc003phz.2_Missense_Mutation_p.C492Y|FILIP1_uc010kbe.2_Missense_Mutation_p.C594Y|FILIP1_uc003pib.1_Missense_Mutation_p.C343Y NM_015687 NP_056502 Q7Z7B0 FLIP1_HUMAN filamin A interacting protein 1 591 Potential. skin(3)|ovary(1) 4 GTCAACACTGCAGCTTAATTC 0.388 NA 37 119 0 0 0 0 SNX14 57231 broad.mit.edu 37 6 86256905 86256905 + Missense_Mutation SNP C C T TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr6:86256905C>T uc003pkr.2 - 12 1226 c.1033G>A c.(1033-1035)GAT>AAT p.D345N SNX14_uc003pkp.2_Missense_Mutation_p.D208N|SNX14_uc003pkq.2_5'UTR|SNX14_uc011dzg.1_Missense_Mutation_p.D293N|SNX14_uc003pks.2_Missense_Mutation_p.D301N|SNX14_uc003pkt.2_Missense_Mutation_p.D345N NM_153816 NP_722523 Q9Y5W7 SNX14_HUMAN sorting nexin 14 isoform a 345 RGS. cell communication|protein transport integral to membrane phosphatidylinositol binding|signal transducer activity 0 all_cancers(76;4.83e-07)|Acute lymphoblastic leukemia(125;3.3e-08)|Prostate(29;2.55e-07)|all_hematologic(105;3.66e-05)|all_epithelial(107;0.000695)|Lung NSC(302;0.197)|all_lung(197;0.24) BRCA - Breast invasive adenocarcinoma(108;0.0423) AATAAAAGATCTTGTTGCTCT 0.343 NA 6 12 0 0 0 0 MDN1 23195 broad.mit.edu 37 6 90382061 90382061 + Nonsense_Mutation SNP G G C TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr6:90382061G>C uc003pnn.1 - 82 13768 c.13652C>G c.(13651-13653)TCA>TGA p.S4551* NM_014611 NP_055426 Q9NU22 MDN1_HUMAN MDN1, midasin homolog 4551 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) TAGATGTCCTGATTGCAGTCT 0.413 NA 13 50 0 0 0 0 BACH2 60468 broad.mit.edu 37 6 90718382 90718382 + Missense_Mutation SNP T T C TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr6:90718382T>C uc011eab.1 - 6 991 c.182A>G c.(181-183)TAT>TGT p.Y61C BACH2_uc003pnw.2_Missense_Mutation_p.Y61C|BACH2_uc010kch.2_Missense_Mutation_p.Y61C NM_021813 NP_068585 Q9BYV9 BACH2_HUMAN BTB and CNC homology 1, basic leucine zipper 61 BTB. nucleus protein dimerization activity|sequence-specific DNA binding ovary(3)|pancreas(1)|lung(1)|skin(1) 6 all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063) BRCA - Breast invasive adenocarcinoma(108;0.0799) CTGCCAAAAATATTCACTGCA 0.478 NA 34 59 0 0 0 0 MANEA 79694 broad.mit.edu 37 6 96053988 96053988 + Missense_Mutation SNP C C A TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr6:96053988C>A uc003poo.1 + 5 1236 c.1096C>A c.(1096-1098)CGT>AGT p.R366S NM_024641 NP_078917 Q5SRI9 MANEA_HUMAN mannosidase, endo-alpha 366 Catalytic (Probable).|Lumenal (Potential). post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane glycoprotein endo-alpha-1,2-mannosidase activity ovary(2)|breast(1) 3 all_cancers(76;1.01e-06)|Acute lymphoblastic leukemia(125;3.58e-09)|all_hematologic(75;1.22e-06)|all_epithelial(107;0.00433)|Colorectal(196;0.0341) BRCA - Breast invasive adenocarcinoma(108;0.148) TACCAGCATCCGTCCATGGAA 0.418 NA 17 77 7.88e-14 1.09e-13 1 0 GPR63 81491 broad.mit.edu 37 6 97247474 97247474 + Missense_Mutation SNP C C T TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr6:97247474C>T uc010kcl.2 - 3 612 c.134G>A c.(133-135)AGA>AAA p.R45K GPR63_uc003pou.2_Missense_Mutation_p.R45K NM_001143957 NP_001137429 Q9BZJ6 GPR63_HUMAN G protein-coupled receptor 63 45 Extracellular (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity|protein binding upper_aerodigestive_tract(1)|ovary(1) 2 all_cancers(76;6.89e-05)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.0618)|Colorectal(196;0.0721) BRCA - Breast invasive adenocarcinoma(108;0.0912) AAAACTATATCTAAGCAATGG 0.453 NA 10 55 0 0 0 0 ASCC3 10973 broad.mit.edu 37 6 101037825 101037825 + Missense_Mutation SNP T T A TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr6:101037825T>A uc003pqk.2 - 35 5743 c.5414A>T c.(5413-5415)GAG>GTG p.E1805V NM_006828 NP_006819 Q8N3C0 HELC1_HUMAN activating signal cointegrator 1 complex subunit 1805 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|microtubule cytoskeleton ATP binding|ATP-dependent helicase activity|nucleic acid binding ovary(5)|skin(1) 6 all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13) BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199) AAGTCATACCTCTCCAATTTC 0.343 NA 9 29 0 0 0 0 ASCC3 10973 broad.mit.edu 37 6 101296082 101296082 + Missense_Mutation SNP C C G TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr6:101296082C>G uc003pqk.2 - 4 1072 c.743G>C c.(742-744)TGC>TCC p.C248S ASCC3_uc011eai.1_Missense_Mutation_p.C150S|ASCC3_uc003pql.2_Missense_Mutation_p.C248S|ASCC3_uc010kcv.2_Missense_Mutation_p.C248S NM_006828 NP_006819 Q8N3C0 HELC1_HUMAN activating signal cointegrator 1 complex subunit 248 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|microtubule cytoskeleton ATP binding|ATP-dependent helicase activity|nucleic acid binding ovary(5)|skin(1) 6 all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13) BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199) TAAAGTACAGCAAAGATCTTC 0.318 NA 9 50 0 0 0 0 POPDC3 64208 broad.mit.edu 37 6 105606590 105606590 + Missense_Mutation SNP A A T TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr6:105606590A>T uc003prb.2 - 4 1033 c.631T>A c.(631-633)TCT>ACT p.S211T uc003pqz.2_Intron|POPDC3_uc003pra.2_RNA NM_022361 NP_071756 Q9HBV1 POPD3_HUMAN popeye protein 3 211 integral to membrane skin(3)|ovary(2) 5 all_cancers(87;4.87e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0157)|Colorectal(196;0.202)|Lung NSC(302;0.238) CTCCTCCAAGACACATATCGA 0.403 NA 61 163 0 0 0 0 RTN4IP1 84816 broad.mit.edu 37 6 107070746 107070746 + Missense_Mutation SNP C C T TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr6:107070746C>T uc003prj.2 - 2 850 c.373G>A c.(373-375)GGC>AGC p.G125S RTN4IP1_uc010kdd.2_Missense_Mutation_p.G125S|RTN4IP1_uc003prk.2_Missense_Mutation_p.G25S NM_032730 NP_116119 Q8WWV3 RT4I1_HUMAN reticulon 4 interacting protein 1 precursor 125 mitochondrion oxidoreductase activity|zinc ion binding 0 Breast(9;0.0107)|all_epithelial(6;0.14) all_cancers(87;9.45e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.0144) Epithelial(6;0.000873)|all cancers(7;0.00363)|BRCA - Breast invasive adenocarcinoma(8;0.00721)|OV - Ovarian serous cystadenocarcinoma(5;0.0394) all cancers(137;0.113)|BRCA - Breast invasive adenocarcinoma(108;0.127)|Epithelial(106;0.144) ATCACCACGCCAGAGACATCC 0.428 NA 9 29 0 0 0 0 ROS1 6098 broad.mit.edu 37 6 117710810 117710810 + Missense_Mutation SNP G G T TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr6:117710810G>T uc003pxp.1 - 12 1661 c.1462C>A c.(1462-1464)CAT>AAT p.H488N ROS1_uc011ebi.1_RNA|GOPC_uc003pxq.1_Intron NM_002944 NP_002935 P08922 ROS_HUMAN proto-oncogene c-ros-1 protein precursor 488 Extracellular (Potential). transmembrane receptor protein tyrosine kinase signaling pathway membrane fraction|sodium:potassium-exchanging ATPase complex ATP binding|transmembrane receptor protein tyrosine kinase activity lung(8)|ovary(6)|central_nervous_system(3)|skin(3)|stomach(2)|breast(2)|large_intestine(1) 25 all_cancers(87;0.00846)|all_epithelial(87;0.0242) GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137) AGGATGAGATGGGAAGCAGAG 0.433 NA T GOPC|ROS1 glioblastoma|NSCLC 21 48 2.55e-18 3.69e-18 1 0 C6orf204 387119 broad.mit.edu 37 6 118887324 118887324 + Missense_Mutation SNP T T A TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr6:118887324T>A uc003pxz.1 - 3 976 c.388A>T c.(388-390)ATG>TTG p.M130L C6orf204_uc003pya.1_Missense_Mutation_p.M133L|C6orf204_uc003pyb.2_Missense_Mutation_p.M130L|C6orf204_uc011ebj.1_Missense_Mutation_p.M28L|C6orf204_uc003pyc.2_Missense_Mutation_p.M133L|C6orf204_uc011ebl.1_Missense_Mutation_p.M28L NM_001042475 NP_001035940 Q5SZL2 CF204_HUMAN chromosome 6 open reading frame 204 isoform a 130 centrosome breast(1) 1 all_cancers(87;0.0814)|all_epithelial(87;0.115) GBM - Glioblastoma multiforme(226;0.0114)|all cancers(137;0.035)|OV - Ovarian serous cystadenocarcinoma(136;0.0618) AATGTTTGCATGAGGCTTGTA 0.478 NA 15 82 0 0 0 0 TRDN 10345 broad.mit.edu 37 6 123687329 123687329 + Splice_Site SNP T T C TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr6:123687329T>C uc003pzj.1 - 20 1296 c.1274_splice c.e20-1 p.K425_splice TRDN_uc003pzk.1_Splice_Site_p.K426_splice|TRDN_uc003pzl.1_Splice_Site_p.K426_splice|TRDN_uc010kem.1_Splice_Site NM_006073 NP_006064 Q13061 TRDN_HUMAN triadin muscle contraction integral to membrane|plasma membrane|sarcoplasmic reticulum membrane receptor binding ovary(1) 1 GBM - Glioblastoma multiforme(226;0.184) GTTCAGTTTCTGCAAGTTCAG 0.308 NA 5 25 0 0 0 0 LAMA2 3908 broad.mit.edu 37 6 129380955 129380955 + Missense_Mutation SNP G G A TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr6:129380955G>A uc003qbn.2 + 3 415 c.310G>A c.(310-312)GAT>AAT p.D104N LAMA2_uc003qbo.2_Missense_Mutation_p.D104N NM_000426 NP_000417 P24043 LAMA2_HUMAN laminin alpha 2 subunit isoform a precursor 104 Laminin N-terminal. cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity ovary(8)|breast(1)|skin(1) 10 OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245) AAATGCTATTGATGGAAAGAA 0.358 NA 10 23 0 0 0 0 TMEM200A 114801 broad.mit.edu 37 6 130762603 130762603 + Missense_Mutation SNP C C G TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr6:130762603C>G uc003qca.2 + 3 1907 c.1036C>G c.(1036-1038)CCA>GCA p.P346A TMEM200A_uc010kfh.2_Missense_Mutation_p.P346A|TMEM200A_uc010kfi.2_Missense_Mutation_p.P346A|TMEM200A_uc003qcb.2_Missense_Mutation_p.P346A NM_052913 NP_443145 Q86VY9 T200A_HUMAN transmembrane protein 200A 346 Cytoplasmic (Potential). integral to membrane ovary(1) 1 GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12) CACAGTGCTACCAAGGAATAA 0.517 NA 13 50 0 0 0 0 CTGF 1490 broad.mit.edu 37 6 132270617 132270617 + Silent SNP G G A TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr6:132270617G>A uc003qcz.2 - 5 1043 c.837C>T c.(835-837)TAC>TAT p.Y279Y NM_001901 NP_001892 P29279 CTGF_HUMAN connective tissue growth factor precursor 279 CTCK.|Heparin-binding. cellular lipid metabolic process|DNA replication|epidermis development|regulation of cell growth|response to wounding plasma membrane|proteinaceous extracellular matrix heparin binding|insulin-like growth factor binding 0 Breast(56;0.0602) GBM - Glioblastoma multiforme(226;0.015)|OV - Ovarian serous cystadenocarcinoma(155;0.0169) ATTTAGCTCGGTATGTCTTCA 0.537 NA 83 307 0 0 0 0 OLIG3 167826 broad.mit.edu 37 6 137815175 137815175 + Missense_Mutation SNP C C T TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr6:137815175C>T uc003qhp.1 - 1 357 c.133G>A c.(133-135)GGC>AGC p.G45S NM_175747 NP_786923 Q7RTU3 OLIG3_HUMAN oligodendrocyte transcription factor 3 45 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding 0 Breast(32;0.165)|Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00161)|OV - Ovarian serous cystadenocarcinoma(155;0.00447) ATCATATCGCCCTGCGTGGAC 0.512 NA 31 112 0 0 0 0 SYNE1 23345 broad.mit.edu 37 6 152647563 152647563 + Missense_Mutation SNP C C A TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr6:152647563C>A uc010kiw.2 - 79 15763 c.15161G>T c.(15160-15162)AGC>ATC p.S5054I SYNE1_uc003qot.3_Missense_Mutation_p.S4983I|SYNE1_uc003qou.3_Missense_Mutation_p.S5054I|SYNE1_uc010kiz.2_Missense_Mutation_p.S809I NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 5054 Cytoplasmic (Potential). cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2) 45 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) GGCTACCAGGCTGTGGAGCTC 0.522 NA HNSCC(10;0.0054) 20 71 3.52e-12 4.76e-12 1 0 CNKSR3 154043 broad.mit.edu 37 6 154727611 154727611 + Silent SNP G G A TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr6:154727611G>A uc003qpy.2 - 13 2050 c.1545C>T c.(1543-1545)GCC>GCT p.A515A NM_173515 NP_775786 Q6P9H4 CNKR3_HUMAN CNKSR family member 3 515 DUF1170. negative regulation of ERK1 and ERK2 cascade|negative regulation of peptidyl-serine phosphorylation|positive regulation of sodium ion transport cytoplasm|membrane ovary(2)|breast(1)|skin(1) 4 Ovarian(120;0.196) OV - Ovarian serous cystadenocarcinoma(155;5.03e-11)|BRCA - Breast invasive adenocarcinoma(81;0.00627) ATGGAATCGTGGCGCTGCTGT 0.582 NA 32 70 0 0 0 0 NOX3 50508 broad.mit.edu 37 6 155718053 155718053 + Missense_Mutation SNP T T C TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr6:155718053T>C uc003qqm.2 - 13 1727 c.1624A>G c.(1624-1626)AGG>GGG p.R542G NM_015718 NP_056533 Q9HBY0 NOX3_HUMAN NADPH oxidase 3 542 Cytoplasmic (Potential). electron carrier activity|flavin adenine dinucleotide binding|iron ion binding ovary(1) 1 Breast(66;0.0183) OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815) TGAAGTGTCCTCGAGAGAGCT 0.468 NA 28 69 0 0 0 0 PLG 5340 broad.mit.edu 37 6 161128796 161128796 + Missense_Mutation SNP A A G TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr6:161128796A>G uc003qtm.3 + 3 313 c.250A>G c.(250-252)ATA>GTA p.I84V NM_000301 NP_000292 P00747 PLMN_HUMAN plasminogen 84 PAN. extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen apolipoprotein binding|cell surface binding|serine-type endopeptidase activity skin(3)|ovary(1) 4 OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06) Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013) GAAGTCCTCCATAATCATTAG 0.274 NA 47 143 0 0 0 0 PDE10A 10846 broad.mit.edu 37 6 165801917 165801917 + Missense_Mutation SNP A A G TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr6:165801917A>G uc003qun.2 - 18 1893 c.1652T>C c.(1651-1653)CTG>CCG p.L551P PDE10A_uc011egj.1_RNA|PDE10A_uc011egk.1_Missense_Mutation_p.L481P|PDE10A_uc003quo.2_Missense_Mutation_p.L561P NM_006661 NP_006652 Q9Y233 PDE10_HUMAN phosphodiesterase 10A isoform 2 551 platelet activation|signal transduction cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding ovary(3)|skin(2) 5 Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221) OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05) Dipyridamole(DB00975) GTCATGACACAGACACGCAAT 0.488 NA 25 66 0 0 0 0 GPER 2852 broad.mit.edu 37 7 1132336 1132336 + Silent SNP C C T TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr7:1132336C>T uc010ksd.1 + 2 1361 c.972C>T c.(970-972)TAC>TAT p.Y324Y C7orf50_uc003sju.2_Intron|C7orf50_uc011jvt.1_Intron|C7orf50_uc011jvu.1_Intron|GPER_uc003sjz.1_Silent_p.Y324Y|GPER_uc003ska.1_Silent_p.Y324Y|GPER_uc003skb.2_Silent_p.Y324Y NM_001098201 NP_001091671 Q99527 GPER_HUMAN G protein-coupled receptor 30 324 Helical; Name=7; (Potential). endoplasmic reticulum membrane|Golgi membrane|integral to plasma membrane G-protein coupled receptor activity ovary(1) 1 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;2.32e-16) CCCTCATCTACAGCTTTCTCG 0.587 NA 55 85 0 0 0 0 FBXL18 80028 broad.mit.edu 37 7 5541042 5541042 + Missense_Mutation SNP C C G TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr7:5541042C>G uc003soo.2 - 3 952 c.858G>C c.(856-858)ATG>ATC p.M286I FBXL18_uc003son.3_Missense_Mutation_p.M286I NM_024963 NP_079239 Q96ME1 FXL18_HUMAN F-box and leucine-rich repeat protein 18 286 central_nervous_system(2)|ovary(1) 3 Ovarian(82;0.0607) UCEC - Uterine corpus endometrioid carcinoma (126;0.181)|OV - Ovarian serous cystadenocarcinoma(56;3.64e-13) CATTGCGCGCCATGGAGTCCA 0.602 NA 21 26 0 0 0 0 PMS2 5395 broad.mit.edu 37 7 6042083 6042083 + Splice_Site SNP C C T TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr7:6042083C>T uc003spl.2 - 5 624 c.537_splice c.e5+1 p.K179_splice PMS2_uc003spj.2_Splice_Site_p.K73_splice|PMS2_uc003spk.2_Splice_Site_p.K44_splice|PMS2_uc011jwl.1_Splice_Site_p.K44_splice|PMS2_uc010ktg.2_Splice_Site|PMS2_uc010kte.2_Splice_Site_p.K179_splice|PMS2_uc010ktf.1_Splice_Site_p.K179_splice NM_000535 NP_000526 P54278 PMS2_HUMAN PMS2 postmeiotic segregation increased 2 isoform mismatch repair|reciprocal meiotic recombination|somatic hypermutation of immunoglobulin genes MutLalpha complex ATP binding|ATPase activity|endonuclease activity|protein binding|single base insertion or deletion binding lung(1)|central_nervous_system(1) 2 Ovarian(82;0.0694) UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15) ATTTACTGTACCTTCTTAATA 0.408 NA Mis|N|F colorectal|endometrial|ovarian|medulloblastoma|glioma Direct_reversal_of_damage|MMR Lynch_syndrome|Turcot_syndrome|Constitutional_Mismatch_Repair_Deficiency_Syndrome 8 146 0 0 0 0 IGF2BP3 10643 broad.mit.edu 37 7 23383461 23383461 + Nonsense_Mutation SNP A A T TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr7:23383461A>T uc003swg.2 - 9 1219 c.953T>A c.(952-954)TTG>TAG p.L318* IGF2BP3_uc003swf.2_Intron NM_006547 NP_006538 O00425 IF2B3_HUMAN insulin-like growth factor 2 mRNA binding 318 KH 2. anatomical structure morphogenesis|negative regulation of translation|translation cytosol|nucleus mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity ovary(2) 2 ATACAGCGTCAATTCCTGCAA 0.383 NA 27 27 0 0 0 0 CREB5 9586 broad.mit.edu 37 7 28857725 28857725 + Missense_Mutation SNP T T A TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr7:28857725T>A uc003szq.2 + 10 1682 c.1292T>A c.(1291-1293)CTG>CAG p.L431Q CREB5_uc003szo.2_Missense_Mutation_p.L398Q|CREB5_uc003szr.2_Missense_Mutation_p.L424Q|CREB5_uc003szs.2_Missense_Mutation_p.L292Q NM_182898 NP_878901 Q02930 CREB5_HUMAN cAMP responsive element binding protein 5 431 Leucine-zipper. positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding skin(2) 2 GTGGCCCAGCTGAAACAGTTG 0.388 NA 20 78 0 0 0 0 CPVL 54504 broad.mit.edu 37 7 29152338 29152338 + Missense_Mutation SNP G G C TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr7:29152338G>C uc003szv.2 - 3 389 c.270C>G c.(268-270)TTC>TTG p.F90L CPVL_uc003szw.2_Missense_Mutation_p.F90L|CPVL_uc003szx.2_Missense_Mutation_p.F90L NM_031311 NP_112601 Q9H3G5 CPVL_HUMAN serine carboxypeptidase vitellogenic-like 90 proteolysis protein binding|serine-type carboxypeptidase activity ovary(2) 2 GGAAGAACCAGAAGAAGAGGT 0.493 NA 34 37 0 0 0 0 C7orf16 10842 broad.mit.edu 37 7 31735160 31735160 + Missense_Mutation SNP C C A TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr7:31735160C>A uc003tcl.2 + 3 318 c.160C>A c.(160-162)CTG>ATG p.L54M C7orf16_uc011kaf.1_Intron NM_006658 NP_006649 O96001 GSUB_HUMAN G-substrate isoform 1 54 behavior|central nervous system development|intracellular protein kinase cascade|protein phosphorylation soluble fraction ovary(2)|central_nervous_system(1) 3 GBM - Glioblastoma multiforme(11;0.216) ACAGGCCACCCTGAATGTTGA 0.423 NA 62 86 8.48e-36 1.28e-35 1 0 BMPER 168667 broad.mit.edu 37 7 34125437 34125437 + Missense_Mutation SNP T T G TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr7:34125437T>G uc011kap.1 + 13 1592 c.1478T>G c.(1477-1479)CTC>CGC p.L493R NM_133468 NP_597725 Q8N8U9 BMPER_HUMAN BMP-binding endothelial regulator precursor 493 VWFD. blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation extracellular space ovary(2)|central_nervous_system(1) 3 AAGGGCAAGCTCTGTGGTCTT 0.443 NA 32 50 0 0 0 0 MYO1G 64005 broad.mit.edu 37 7 45005293 45005293 + Missense_Mutation SNP G G A TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr7:45005293G>A uc003tmh.2 - 17 2468 c.2324C>T c.(2323-2325)CCG>CTG p.P775L MYO1G_uc003tmf.2_Missense_Mutation_p.P218L|MYO1G_uc003tmg.2_Missense_Mutation_p.P537L|MYO1G_uc010kym.2_Missense_Mutation_p.P660L NM_033054 NP_149043 B0I1T2 MYO1G_HUMAN myosin IG 775 myosin complex|plasma membrane actin binding|ATP binding|calmodulin binding|motor activity breast(2)|ovary(1)|pancreas(1) 4 AGGGGGCAGCGGCCACACAAG 0.637 NA 44 43 0 0 0 0 HUS1 3364 broad.mit.edu 37 7 48016391 48016391 + Missense_Mutation SNP G G A TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr7:48016391G>A uc003tod.1 - 4 531 c.401C>T c.(400-402)CCC>CTC p.P134L HUS1_uc003toe.1_Missense_Mutation_p.P134L|HUS1_uc011kce.1_RNA NM_004507 NP_004498 O60921 HUS1_HUMAN HUS1 checkpoint protein 134 DNA damage checkpoint|DNA replication Golgi apparatus|nucleolus|nucleoplasm protein binding ovary(2)|lung(2)|kidney(1) 5 Breast(660;0.00139) CACCTTTATGGGGATGTCATG 0.413 NA Direct_reversal_of_damage|Other_conserved_DNA_damage_response_genes 73 101 0 0 0 0 ABCA13 154664 broad.mit.edu 37 7 48411888 48411888 + Missense_Mutation SNP G G T TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr7:48411888G>T uc003toq.2 + 33 10952 c.10927G>T c.(10927-10929)GCA>TCA p.A3643S ABCA13_uc010kys.1_Missense_Mutation_p.A717S|ABCA13_uc003tos.1_Missense_Mutation_p.A469S NM_152701 NP_689914 Q86UQ4 ABCAD_HUMAN ATP binding cassette, sub-family A (ABC1), 3643 transport integral to membrane ATP binding|ATPase activity ovary(5)|central_nervous_system(4)|skin(1) 10 TGGCATCTTTGCACACAGCAA 0.458 NA 68 116 2.5e-33 3.76e-33 1 0 GBAS 2631 broad.mit.edu 37 7 56062652 56062652 + Missense_Mutation SNP G G A TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr7:56062652G>A uc003tre.1 + 8 691 c.683G>A c.(682-684)GGG>GAG p.G228E GBAS_uc003trf.1_Missense_Mutation_p.G189E NM_001483 NP_001474 O75323 NIPS2_HUMAN nipsnap homolog 2 228 integral to plasma membrane|membrane fraction|mitochondrion protein binding central_nervous_system(1) 1 Breast(14;0.214) Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099) TCTCAGATTGGGCAGCTGTAC 0.453 NA 34 662 0 0 0 0 TBL2 26608 broad.mit.edu 37 7 72985558 72985558 + Missense_Mutation SNP G G A TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr7:72985558G>A uc003tyh.2 - 6 973 c.839C>T c.(838-840)GCG>GTG p.A280V TBL2_uc011kex.1_Missense_Mutation_p.A244V|TBL2_uc010lbg.2_Missense_Mutation_p.A185V|TBL2_uc003tyi.2_Missense_Mutation_p.A115V|TBL2_uc011key.1_Missense_Mutation_p.A151V|TBL2_uc010lbh.2_Missense_Mutation_p.A185V NM_012453 NP_036585 Q9Y4P3 TBL2_HUMAN transducin (beta)-like 2 280 WD 5. 0 Lung NSC(55;0.0659)|all_lung(88;0.152) GTGCACAGCCGCGGAGTGGCC 0.567 NA 15 44 0 0 0 0 HGF 3082 broad.mit.edu 37 7 81346600 81346600 + Missense_Mutation SNP C C G TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr7:81346600C>G uc003uhl.2 - 11 1518 c.1353G>C c.(1351-1353)TGG>TGC p.W451C HGF_uc003uhm.2_Missense_Mutation_p.W446C NM_000601 NP_000592 P14210 HGF_HUMAN hepatocyte growth factor isoform 1 451 Kringle 4. epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling platelet alpha granule lumen growth factor activity|serine-type endopeptidase activity ovary(2)|central_nervous_system(2) 4 CCGTGTAGCACCAGGGTCCAT 0.423 NA 15 48 0 0 0 0 PCLO 27445 broad.mit.edu 37 7 82764673 82764673 + Missense_Mutation SNP C C A TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr7:82764673C>A uc003uhx.2 - 3 2482 c.2193G>T c.(2191-2193)AAG>AAT p.K731N PCLO_uc003uhv.2_Missense_Mutation_p.K731N NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN piccolo isoform 1 677 Pro-rich. cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity ovary(7) 7 GAGGGGCTGGCTTGGACAAAG 0.537 NA 10 43 0.000442599 0.000499374 1 0 PCLO 27445 broad.mit.edu 37 7 82784850 82784850 + Silent SNP A A G TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr7:82784850A>G uc003uhx.2 - 2 1396 c.1107T>C c.(1105-1107)GCT>GCC p.A369A PCLO_uc003uhv.2_Silent_p.A369A NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN piccolo isoform 1 329 Gln-rich.|Pro-rich. cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity ovary(7) 7 CTGGAGGCTTAGCAGGACCAA 0.577 NA 11 36 0 0 0 0 SEMA3A 10371 broad.mit.edu 37 7 83590917 83590917 + Missense_Mutation SNP T T C TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr7:83590917T>C uc003uhz.2 - 17 2401 c.2086A>G c.(2086-2088)ACA>GCA p.T696A NM_006080 NP_006071 Q14563 SEM3A_HUMAN semaphorin 3A precursor 696 axon guidance extracellular region|membrane receptor activity ovary(2)|breast(1)|kidney(1) 4 TGGCTAGGTGTCATGCTATTG 0.438 NA 31 81 0 0 0 0 TECPR1 25851 broad.mit.edu 37 7 97874270 97874270 + Missense_Mutation SNP G G A TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr7:97874270G>A uc003upg.2 - 4 540 c.335C>T c.(334-336)CCC>CTC p.P112L TECPR1_uc003uph.1_Missense_Mutation_p.P33L NM_015395 NP_056210 Q7Z6L1 TCPR1_HUMAN tectonin beta-propeller repeat containing 1 112 integral to membrane protein binding pancreas(1) 1 GTGCGGCGAGGGCAGTGCCAC 0.622 NA 8 22 0 0 0 0 RELN 5649 broad.mit.edu 37 7 103194255 103194255 + Missense_Mutation SNP C C A TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr7:103194255C>A uc003vca.2 - 39 5981 c.5821G>T c.(5821-5823)GTT>TTT p.V1941F RELN_uc010liz.2_Missense_Mutation_p.V1941F NM_005045 NP_005036 P78509 RELN_HUMAN reelin isoform a 1941 axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1) 19 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) AAGTCATCAACAATCCAGATT 0.348 NA 11 54 6.4e-05 7.38e-05 1 0 RELN 5649 broad.mit.edu 37 7 103202352 103202352 + Silent SNP C C T TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr7:103202352C>T uc003vca.2 - 35 5419 c.5259G>A c.(5257-5259)GGG>GGA p.G1753G RELN_uc010liz.2_Silent_p.G1753G NM_005045 NP_005036 P78509 RELN_HUMAN reelin isoform a 1753 axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1) 19 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) AGGAATCAGCCCCCACAGTGT 0.478 NA 11 19 0 0 0 0 SLC26A3 1811 broad.mit.edu 37 7 107423469 107423469 + Missense_Mutation SNP G G T TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr7:107423469G>T uc003ver.2 - 10 1400 c.1189C>A c.(1189-1191)CTC>ATC p.L397I SLC26A3_uc003ves.2_Missense_Mutation_p.L362I NM_000111 NP_000102 P40879 S26A3_HUMAN solute carrier family 26, member 3 397 excretion integral to membrane|membrane fraction inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity ovary(3)|skin(1) 4 GATCTGGAGAGGGCAGTACTC 0.458 NA 32 87 9.18e-22 1.35e-21 1 0 LAMB4 22798 broad.mit.edu 37 7 107696308 107696308 + Missense_Mutation SNP C C T TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr7:107696308C>T uc010ljo.1 - 25 3608 c.3524G>A c.(3523-3525)TGT>TAT p.C1175Y LAMB4_uc003vey.2_Missense_Mutation_p.C1175Y|LAMB4_uc010ljp.1_Missense_Mutation_p.C144Y NM_007356 NP_031382 A4D0S4 LAMB4_HUMAN laminin, beta 4 precursor 1175 Domain II. cell adhesion basement membrane ovary(4)|breast(2)|large_intestine(1)|skin(1) 8 GCACAAGTGACATTGAAGACA 0.542 NA 20 75 0 0 0 0 ASZ1 136991 broad.mit.edu 37 7 117003704 117003704 + Missense_Mutation SNP T T C TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr7:117003704T>C uc003vjb.2 - 13 1437 c.1374A>G c.(1372-1374)ATA>ATG p.I458M ASZ1_uc011kno.1_Missense_Mutation_p.I449M|ASZ1_uc011knp.1_Missense_Mutation_p.I250M NM_130768 NP_570124 Q8WWH4 ASZ1_HUMAN ankyrin repeat, SAM and basic leucine zipper 458 cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis pi-body signal transducer activity central_nervous_system(2)|ovary(1) 3 Lung NSC(10;0.00156)|all_lung(10;0.00175) STAD - Stomach adenocarcinoma(10;0.000512) CGAATCCGCATATGGTAATAG 0.318 NA 14 40 0 0 0 0 ASB15 142685 broad.mit.edu 37 7 123270163 123270163 + Silent SNP C C A TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr7:123270163C>A uc003vku.1 + 11 1876 c.1584C>A c.(1582-1584)CGC>CGA p.R528R ASB15_uc003vkw.1_Silent_p.R528R NM_080928 NP_563616 Q8WXK1 ASB15_HUMAN ankyrin repeat and SOCS box-containing 15 528 SOCS box. intracellular signal transduction skin(2)|lung(1) 3 CAGAAATCCGCCAAATACTAG 0.353 NA 20 49 5.35e-07 6.59e-07 1 0 ZNF282 8427 broad.mit.edu 37 7 148903833 148903833 + Nonsense_Mutation SNP G G T TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr7:148903833G>T uc003wfm.2 + 3 736 c.631G>T c.(631-633)GAG>TAG p.E211* ZNF282_uc011kun.1_Nonsense_Mutation_p.E211*|ZNF282_uc003wfn.2_Nonsense_Mutation_p.E151*|ZNF282_uc003wfo.2_Nonsense_Mutation_p.E151* NM_003575 NP_003566 Q9UDV7 ZN282_HUMAN zinc finger protein 282 211 KRAB. negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00171) Lung(243;0.145) CTCCGAAGACGAGTGGAAGAA 0.498 NA 74 174 9.08e-34 1.37e-33 1 0 C8orf42 157695 broad.mit.edu 37 8 444571 444571 + Nonsense_Mutation SNP C C T TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr8:444571C>T uc003wpd.2 - 2 709 c.135G>A c.(133-135)TGG>TGA p.W45* C8orf42_uc011kwg.1_Nonsense_Mutation_p.W45* NM_175075 NP_778250 Q86YL5 CH042_HUMAN hypothetical protein LOC157695 45 0 Ovarian(12;0.0481)|Colorectal(14;0.0815)|Hepatocellular(245;0.0968)|Myeloproliferative disorder(644;0.116)|all_neural(12;0.122) Epithelial(5;5.16e-14)|OV - Ovarian serous cystadenocarcinoma(5;7.35e-07)|BRCA - Breast invasive adenocarcinoma(11;4.17e-06)|COAD - Colon adenocarcinoma(149;0.0255) TCACTTCTTTCCAACCTCGGA 0.383 NA 10 30 0 0 0 0 USP17L2 377630 broad.mit.edu 37 8 11995836 11995836 + Missense_Mutation SNP G G A TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr8:11995836G>A uc003wvc.1 - 1 434 c.434C>T c.(433-435)CCC>CTC p.P145L FAM66D_uc011kxp.1_Intron|FAM66D_uc011kxo.1_Intron NM_201402 NP_958804 Q6R6M4 U17L2_HUMAN deubiquitinating enzyme 3 145 apoptosis|cell cycle|G2/M transition checkpoint|mitotic cell cycle G1/S transition checkpoint|protein deubiquitination|ubiquitin-dependent protein catabolic process nucleus ubiquitin thiolesterase activity|ubiquitin-specific protease activity skin(2)|upper_aerodigestive_tract(1) 3 TGCCTGTGAGGGCTGGATGAC 0.527 NA 39 70 0 0 0 0 LONRF1 91694 broad.mit.edu 37 8 12598387 12598387 + Missense_Mutation SNP T T C TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr8:12598387T>C uc003wwd.1 - 3 1022 c.959A>G c.(958-960)CAA>CGA p.Q320R LONRF1_uc010lsp.1_5'UTR NM_152271 NP_689484 Q17RB8 LONF1_HUMAN LON peptidase N-terminal domain and ring finger 320 proteolysis ATP-dependent peptidase activity|zinc ion binding ovary(1) 1 READ - Rectum adenocarcinoma(644;0.236) GATTACCTTTTGTACTTGCAG 0.373 NA 39 64 0 0 0 0 PTK2B 2185 broad.mit.edu 37 8 27310644 27310644 + Silent SNP G G A TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr8:27310644G>A uc003xfn.1 + 33 3370 c.2562G>A c.(2560-2562)GGG>GGA p.G854G PTK2B_uc003xfo.1_Silent_p.G854G|PTK2B_uc003xfp.1_Silent_p.G854G|PTK2B_uc003xfq.1_Silent_p.G812G NM_173174 NP_775266 Q14289 FAK2_HUMAN PTK2B protein tyrosine kinase 2 beta isoform a 854 Interaction with TGFB1I1 (By similarity).|Pro-rich. apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly cytosol ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity lung(3)|ovary(1)|skin(1) 5 Ovarian(32;2.72e-05) UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229) AGTTCACAGGGCCCCCACAGA 0.542 NA 33 60 0 0 0 0 FGFR1 2260 broad.mit.edu 37 8 38287450 38287450 + Silent SNP G G A TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr8:38287450G>A uc003xlp.2 - 3 1050 c.108C>T c.(106-108)GCC>GCT p.A36A FGFR1_uc011lbo.1_Silent_p.A36A|FGFR1_uc011lbp.1_Intron|FGFR1_uc011lbq.1_Intron|FGFR1_uc010lwk.2_Silent_p.A28A|FGFR1_uc011lbr.1_5'Flank|FGFR1_uc011lbs.1_Intron|FGFR1_uc011lbt.1_Intron|FGFR1_uc011lbu.1_Silent_p.A69A|FGFR1_uc011lbv.1_Silent_p.A36A|FGFR1_uc011lbw.1_Intron|FGFR1_uc011lbx.1_Intron|FGFR1_uc003xlv.2_Intron|FGFR1_uc003xlu.2_Intron|FGFR1_uc003xlw.1_RNA NM_023110 NP_075598 P11362 FGFR1_HUMAN fibroblast growth factor receptor 1 isoform 1 36 Extracellular (Potential).|Ig-like C2-type 1. axon guidance|cell growth|insulin receptor signaling pathway|MAPKKK cascade|positive regulation of cell proliferation|skeletal system development extracellular region|integral to plasma membrane|membrane fraction ATP binding|fibroblast growth factor receptor activity|heparin binding|protein homodimerization activity lung(5)|central_nervous_system(5)|stomach(2)|breast(2)|ovary(1) 15 all_cancers(2;9.05e-47)|all_epithelial(2;2.64e-50)|all_lung(3;1.71e-23)|Lung NSC(2;3.61e-23)|Colorectal(12;0.000442) Breast(189;1.48e-05)|all_lung(54;0.00354)|Lung NSC(58;0.0138)|Hepatocellular(245;0.065) Epithelial(3;3.96e-34)|all cancers(3;3.06e-30)|BRCA - Breast invasive adenocarcinoma(5;2.28e-21)|COAD - Colon adenocarcinoma(9;0.24) Palifermin(DB00039) CTTCCACAGGGGCTCCCCAGG 0.438 1 T BCR|FOP|ZNF198|CEP1 MPD|NHL Pfeiffer syndrome|Kallman syndrome 82 19 0 0 0 0 MYST3 7994 broad.mit.edu 37 8 41836253 41836253 + Missense_Mutation SNP C C G TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr8:41836253C>G uc010lxb.2 - 7 1494 c.950G>C c.(949-951)CGA>CCA p.R317P MYST3_uc010lxc.2_Missense_Mutation_p.R317P|MYST3_uc003xon.3_Missense_Mutation_p.R317P|MYST3_uc010lxd.2_Missense_Mutation_p.R317P NM_001099412 NP_001092882 Q92794 MYST3_HUMAN MYST histone acetyltransferase (monocytic 317 Interaction with RUNX1-1. histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent MOZ/MORF histone acetyltransferase complex|nucleosome DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding ovary(4)|pancreas(1)|central_nervous_system(1)|skin(1) 7 all_epithelial(6;1.12e-27)|all_lung(13;3.94e-12)|Lung NSC(13;6.54e-11)|Ovarian(28;0.00744)|Prostate(17;0.0119)|Colorectal(14;0.0221)|Lung SC(25;0.211) all_lung(54;0.000294)|Lung NSC(58;0.00105)|Hepatocellular(245;0.0524)|Esophageal squamous(32;0.0954)|Renal(179;0.0983) Epithelial(1;2.82e-19)|all cancers(1;1.15e-16)|BRCA - Breast invasive adenocarcinoma(8;9.17e-11)|OV - Ovarian serous cystadenocarcinoma(14;9.4e-05)|Colorectal(10;0.000728)|Lung(22;0.00153)|LUSC - Lung squamous cell carcinoma(45;0.00741)|COAD - Colon adenocarcinoma(11;0.0171) TAGAAGTTTTCGTCCTTTTTT 0.353 NA 33 110 0 0 0 0 RP1 6101 broad.mit.edu 37 8 55533742 55533742 + Missense_Mutation SNP G G T TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr8:55533742G>T uc003xsd.1 + 2 364 c.216G>T c.(214-216)AGG>AGT p.R72S RP1_uc011ldy.1_Missense_Mutation_p.R72S NM_006269 NP_006260 P56715 RP1_HUMAN retinitis pigmentosa RP1 protein 72 Doublecortin 1. axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding skin(7)|ovary(4)|pancreas(1) 12 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) ACTTGTCCAGGAAGGTGCCCC 0.592 NA 25 95 9.86e-18 1.42e-17 1 0 PENK 5179 broad.mit.edu 37 8 57353977 57353977 + Missense_Mutation SNP G G C TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr8:57353977G>C uc003xsz.2 - 2 739 c.658C>G c.(658-660)CCA>GCA p.P220A PENK_uc003xta.3_Missense_Mutation_p.P220A NM_006211 NP_006202 P01210 PENK_HUMAN proenkephalin 220 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) CACCACTCTGGGCGACCTACT 0.537 NA 47 112 0 0 0 0 CHD7 55636 broad.mit.edu 37 8 61774807 61774807 + Missense_Mutation SNP A A G TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr8:61774807A>G uc003xue.2 + 36 8360 c.7883A>G c.(7882-7884)CAT>CGT p.H2628R NM_017780 NP_060250 Q9P2D1 CHD7_HUMAN chromodomain helicase DNA binding protein 7 2628 central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent nucleus ATP binding|chromatin binding|DNA binding|helicase activity ovary(4)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|pancreas(1) 9 all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477) BRCA - Breast invasive adenocarcinoma(89;0.143) CAGAAACGACATAGATGTCGA 0.353 NA 7 11 0 0 0 0 SLCO5A1 81796 broad.mit.edu 37 8 70594460 70594460 + Missense_Mutation SNP A A C TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr8:70594460A>C uc003xyl.2 - 7 2448 c.1741T>G c.(1741-1743)TGT>GGT p.C581G SLCO5A1_uc010lzb.2_Missense_Mutation_p.C526G|SLCO5A1_uc011lfa.1_RNA|SLCO5A1_uc003xyk.2_Missense_Mutation_p.C581G NM_030958 NP_112220 Q9H2Y9 SO5A1_HUMAN solute carrier organic anion transporter family, 581 Extracellular (Potential).|Kazal-like. integral to membrane|plasma membrane transporter activity ovary(3)|upper_aerodigestive_tract(1) 4 Breast(64;0.0654) Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594) CCAGCCAGACAAGGGTTAAAG 0.423 NA 17 68 0 0 0 0 CRISPLD1 83690 broad.mit.edu 37 8 75932314 75932314 + Missense_Mutation SNP G G A TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr8:75932314G>A uc003yan.2 + 12 1619 c.1244G>A c.(1243-1245)AGA>AAA p.R415K CRISPLD1_uc011lfk.1_Missense_Mutation_p.R227K|CRISPLD1_uc011lfl.1_Missense_Mutation_p.R227K NM_031461 NP_113649 Q9H336 CRLD1_HUMAN cysteine-rich secretory protein LCCL domain 415 LCCL 2. extracellular region ovary(1)|central_nervous_system(1) 2 Breast(64;0.0799) Epithelial(68;0.155)|BRCA - Breast invasive adenocarcinoma(89;0.161) CATTGCCCAAGGTAAACCAGT 0.408 NA 14 32 0 0 0 0 CA2 760 broad.mit.edu 37 8 86386585 86386585 + Silent SNP G G T TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr8:86386585G>T uc003ydk.2 + 4 564 c.384G>T c.(382-384)GGG>GGT p.G128G NM_000067 NP_000058 P00918 CAH2_HUMAN carbonic anhydrase II 128 one-carbon metabolic process apical part of cell carbonate dehydratase activity|zinc ion binding central_nervous_system(1) 1 Acetazolamide(DB00819)|Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Brinzolamide(DB01194)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Dorzolamide(DB00869)|Ethinamate(DB01031)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Topiramate(DB00273)|Trichlormethiazide(DB01021) CCAAATATGGGGATTTTGGGA 0.393 NA 35 111 4.4e-34 6.63e-34 1 0 TMEM55A 55529 broad.mit.edu 37 8 92007999 92007999 + Missense_Mutation SNP C C A TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr8:92007999C>A uc003yes.2 - 7 906 c.680G>T c.(679-681)TGG>TTG p.W227L NM_018710 NP_061180 Q8N4L2 TM55A_HUMAN transmembrane protein 55A 227 Helical; (Potential). integral to membrane|late endosome membrane|lysosomal membrane hydrolase activity 0 BRCA - Breast invasive adenocarcinoma(11;0.033) AGCAATTGCCCAAGAAACATA 0.363 NA 15 43 1.68e-08 2.14e-08 1 0 PKHD1L1 93035 broad.mit.edu 37 8 110510777 110510777 + Silent SNP T T C TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr8:110510777T>C uc003yne.2 + 66 10790 c.10686T>C c.(10684-10686)GCT>GCC p.A3562A NM_177531 NP_803875 Q86WI1 PKHL1_HUMAN fibrocystin L precursor 3562 Extracellular (Potential). immune response cytosol|extracellular space|integral to membrane receptor activity ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1) 14 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) TCACTGCTGCTCATCGGAGTC 0.343 NA HNSCC(38;0.096) 18 47 0 0 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110530661 110530661 + Missense_Mutation SNP G G T TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr8:110530661G>T uc003yne.2 + 73 12059 c.11955G>T c.(11953-11955)AGG>AGT p.R3985S NM_177531 NP_803875 Q86WI1 PKHL1_HUMAN fibrocystin L precursor 3985 Extracellular (Potential). immune response cytosol|extracellular space|integral to membrane receptor activity ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1) 14 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) GTCTGAGGAGGAAGAGATCCA 0.388 NA HNSCC(38;0.096) 17 52 1.15e-07 1.43e-07 1 0 CSMD3 114788 broad.mit.edu 37 8 113249531 113249531 + Nonsense_Mutation SNP G G C TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr8:113249531G>C uc003ynu.2 - 67 10674 c.10515C>G c.(10513-10515)TAC>TAG p.Y3505* CSMD3_uc003yns.2_Nonsense_Mutation_p.Y2707*|CSMD3_uc003ynt.2_Nonsense_Mutation_p.Y3465*|CSMD3_uc011lhx.1_Nonsense_Mutation_p.Y3336* NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 3505 Extracellular (Potential). 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 CTTTGAAATTGTAAGAGCCTT 0.348 NA HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 10 50 0 0 0 0 CSMD3 114788 broad.mit.edu 37 8 113277722 113277722 + Silent SNP G G T TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr8:113277722G>T uc003ynu.2 - 60 9765 c.9606C>A c.(9604-9606)GGC>GGA p.G3202G CSMD3_uc003yns.2_Silent_p.G2404G|CSMD3_uc003ynt.2_Silent_p.G3162G|CSMD3_uc011lhx.1_Silent_p.G3033G NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 3202 Extracellular (Potential).|Sushi 24. 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 CCATCGTGTAGCCTGGCTGGC 0.423 NA HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 32 63 2.08e-15 2.94e-15 1 0 CSMD3 114788 broad.mit.edu 37 8 113317077 113317077 + Silent SNP G G A TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr8:113317077G>A uc003ynu.2 - 52 8298 c.8139C>T c.(8137-8139)TCC>TCT p.S2713S CSMD3_uc003yns.2_Silent_p.S1915S|CSMD3_uc003ynt.2_Silent_p.S2673S|CSMD3_uc011lhx.1_Intron NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 2713 Extracellular (Potential).|Sushi 16. 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 ATTCATAATGGGAGCCATTCA 0.403 NA HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 10 25 0 0 0 0 OC90 729330 broad.mit.edu 37 8 133036754 133036754 + Missense_Mutation SNP C C A TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr8:133036754C>A uc003ytg.2 - 13 1408 c.1408G>T c.(1408-1410)GGG>TGG p.G470W OC90_uc011lix.1_Missense_Mutation_p.G470W NM_001080399 NP_001073868 Q02509 OC90_HUMAN otoconin 90 486 lipid catabolic process|phospholipid metabolic process calcium ion binding|phospholipase A2 activity ovary(2)|skin(1) 3 Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000805) GGCCCGATCCCCAAGGGACCC 0.582 NA 13 25 3.27e-08 4.14e-08 1 0 PHF20L1 51105 broad.mit.edu 37 8 133856460 133856460 + Silent SNP A A G TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr8:133856460A>G uc003ytt.2 + 20 3133 c.2808A>G c.(2806-2808)CCA>CCG p.P936P PHF20L1_uc011lja.1_Silent_p.P910P NM_016018 NP_057102 A8MW92 P20L1_HUMAN PHD finger protein 20-like 1 isoform 1 936 nucleic acid binding|zinc ion binding ovary(2) 2 all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;4.46e-05) CCGAAGACCCAGGAGACTCAC 0.418 NA 25 47 0 0 0 0 ZFAT 57623 broad.mit.edu 37 8 135614050 135614050 + Missense_Mutation SNP C C A TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr8:135614050C>A uc003yup.2 - 6 2087 c.1912G>T c.(1912-1914)GCC>TCC p.A638S ZFAT_uc003yun.2_Missense_Mutation_p.A626S|ZFAT_uc003yuo.2_Missense_Mutation_p.A626S|ZFAT_uc010meh.2_Missense_Mutation_p.A626S|ZFAT_uc010mei.2_RNA|ZFAT_uc003yuq.2_Missense_Mutation_p.A626S|ZFAT_uc010mej.2_Missense_Mutation_p.A576S|ZFAT_uc003yur.2_Missense_Mutation_p.A626S NM_020863 NP_065914 Q9P243 ZFAT_HUMAN zinc finger protein 406 isoform ZFAT-1 638 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nucleus DNA binding|zinc ion binding central_nervous_system(1) 1 all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0432) GCACTCTGGGCCTTGGACAGC 0.597 NA 21 76 3.6e-14 5e-14 1 0 KANK1 23189 broad.mit.edu 37 9 738306 738306 + Nonsense_Mutation SNP C C T TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr9:738306C>T uc003zgl.1 + 12 4004 c.3355C>T c.(3355-3357)CAG>TAG p.Q1119* KANK1_uc003zgn.1_Nonsense_Mutation_p.Q1119*|KANK1_uc003zgs.1_Nonsense_Mutation_p.Q961*|KANK1_uc010mgx.1_Nonsense_Mutation_p.Q97*|KANK1_uc010mgy.1_Nonsense_Mutation_p.Q31*|KANK1_uc003zgt.1_Nonsense_Mutation_p.Q31* NM_015158 NP_055973 Q14678 KANK1_HUMAN KN motif and ankyrin repeat domains 1 isoform a 1119 negative regulation of actin filament polymerization cytoplasm ovary(2)|central_nervous_system(1)|pancreas(1) 4 Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128) Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222) GAACACCCTCCAGCACGAGTG 0.502 NA 8 12 0 0 0 0 PTPRD 5789 broad.mit.edu 37 9 8340364 8340364 + Silent SNP G G T TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr9:8340364G>T uc003zkk.2 - 41 5943 c.5232C>A c.(5230-5232)ACC>ACA p.T1744T PTPRD_uc003zkp.2_Silent_p.T1338T|PTPRD_uc003zkq.2_Silent_p.T1337T|PTPRD_uc003zkr.2_Silent_p.T1328T|PTPRD_uc003zks.2_Silent_p.T1337T|PTPRD_uc003zkl.2_Silent_p.T1735T|PTPRD_uc003zkm.2_Silent_p.T1731T|PTPRD_uc003zkn.2_Silent_p.T1333T|PTPRD_uc003zko.2_Silent_p.T1334T NM_002839 NP_002830 P23468 PTPRD_HUMAN protein tyrosine phosphatase, receptor type, D 1744 Cytoplasmic (Potential).|Tyrosine-protein phosphatase 2. transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity lung(14)|large_intestine(3)|ovary(2)|breast(2)|urinary_tract(1) 22 all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824) all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119) CACGCAGCTTGGTGAGCATCA 0.483 NA TSP Lung(15;0.13) 18 26 9.17e-09 1.18e-08 1 0 ALDH1B1 219 broad.mit.edu 37 9 38395768 38395768 + Missense_Mutation SNP G G A rs61757680 TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr9:38395768G>A uc004aay.2 + 2 135 c.23G>A c.(22-24)CGG>CAG p.R8Q NM_000692 NP_000683 P30837 AL1B1_HUMAN aldehyde dehydrogenase 1B1 precursor 8 carbohydrate metabolic process mitochondrial matrix|nucleus aldehyde dehydrogenase (NAD) activity skin(1) 1 GBM - Glioblastoma multiforme(29;0.043)|Lung(182;0.115) NADH(DB00157) CTGGCACCCCGGCTGCTTAGC 0.627 NA 30 44 0 0 0 0 SMC5 23137 broad.mit.edu 37 9 72897368 72897368 + Missense_Mutation SNP G G A TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr9:72897368G>A uc004ahr.2 + 7 967 c.850G>A c.(850-852)GAA>AAA p.E284K NM_015110 NP_055925 Q8IY18 SMC5_HUMAN SMC5 protein 284 Potential. DNA recombination|DNA repair chromosome|nucleus ATP binding ovary(2)|central_nervous_system(1) 3 GGAATATGAAGAAGTAAAACT 0.353 NA 16 29 0 0 0 0 FLJ46321 389763 broad.mit.edu 37 9 84607177 84607177 + Silent SNP C C T TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr9:84607177C>T uc004amn.2 + 4 1839 c.1792C>T c.(1792-1794)CTG>TTG p.L598L NM_001001670 NP_001001670 Q6ZQQ2 F75D1_HUMAN hypothetical protein LOC389763 598 integral to membrane 0 TCCTCTATTCCTGATTAGGAT 0.502 NA 28 50 0 0 0 0 FGD3 89846 broad.mit.edu 37 9 95738930 95738930 + Missense_Mutation SNP G G T TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr9:95738930G>T uc004asw.2 + 3 1020 c.392G>T c.(391-393)GGT>GTT p.G131V FGD3_uc004asx.2_Missense_Mutation_p.G131V|FGD3_uc004asz.2_Missense_Mutation_p.G131V NM_001083536 NP_001077005 Q5JSP0 FGD3_HUMAN FYVE, RhoGEF and PH domain containing 3 131 actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction cytoskeleton|cytosol|Golgi apparatus|lamellipodium|ruffle metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding ovary(1)|breast(1) 2 AGCGACGTGGGTGAGGAACCT 0.682 NA 23 30 9.04e-07 1.1e-06 1 0 KIAA1529 57653 broad.mit.edu 37 9 100092789 100092789 + Nonsense_Mutation SNP C C T TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr9:100092789C>T uc011lut.1 + 30 3336 c.2563C>T c.(2563-2565)CAG>TAG p.Q855* KIAA1529_uc004axe.1_Nonsense_Mutation_p.Q855*|KIAA1529_uc004axg.1_Nonsense_Mutation_p.Q716*|KIAA1529_uc004axh.1_RNA|KIAA1529_uc011luw.1_Nonsense_Mutation_p.Q40*|KIAA1529_uc011lus.1_Nonsense_Mutation_p.Q673*|KIAA1529_uc010msm.1_RNA|KIAA1529_uc004axf.2_Nonsense_Mutation_p.Q716*|KIAA1529_uc011luv.1_Nonsense_Mutation_p.Q713* NM_020893 NP_065944 hypothetical protein LOC57653 ovary(4)|large_intestine(2)|skin(1) 7 Acute lymphoblastic leukemia(62;0.154) GGTGCTGGGGCAGCAGAAAAA 0.453 NA 10 25 0 0 0 0 ZNF462 58499 broad.mit.edu 37 9 109689499 109689499 + Silent SNP A A C TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr9:109689499A>C uc004bcz.2 + 3 3595 c.3306A>C c.(3304-3306)CCA>CCC p.P1102P ZNF462_uc010mto.2_Silent_p.P950P|ZNF462_uc004bda.2_Silent_p.P950P NM_021224 NP_067047 Q96JM2 ZN462_HUMAN zinc finger protein 462 1102 transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(5) 5 CACCCCCCCCACAACCCCCGC 0.527 NA 3 23 0 0 0 0 CDK5RAP2 55755 broad.mit.edu 37 9 123170649 123170649 + Missense_Mutation SNP C C G TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr9:123170649C>G uc004bkf.2 - 31 4883 c.4702G>C c.(4702-4704)GAT>CAT p.D1568H CDK5RAP2_uc010mvi.2_Missense_Mutation_p.D577H|CDK5RAP2_uc004bke.2_Missense_Mutation_p.D853H|CDK5RAP2_uc004bkg.2_Missense_Mutation_p.D1568H|CDK5RAP2_uc011lxw.1_Missense_Mutation_p.D833H|CDK5RAP2_uc011lxx.1_RNA|CDK5RAP2_uc011lxy.1_RNA|CDK5RAP2_uc011lxz.1_Missense_Mutation_p.D833H|CDK5RAP2_uc011lya.1_Missense_Mutation_p.D833H|CDK5RAP2_uc004bkh.1_Missense_Mutation_p.D1338H|CDK5RAP2_uc004bki.2_Missense_Mutation_p.D1335H NM_018249 NP_060719 Q96SN8 CK5P2_HUMAN CDK5 regulatory subunit associated protein 2 1568 brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding ovary(2)|lung(1)|skin(1) 4 TGCTCTTCATCCAGCTTCTCA 0.557 NA 24 51 0 0 0 0 NR5A1 2516 broad.mit.edu 37 9 127253385 127253385 + Silent SNP G G C TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr9:127253385G>C uc004boo.1 - 6 1300 c.1113C>G c.(1111-1113)CTC>CTG p.L371L NM_004959 NP_004950 Q13285 STF1_HUMAN nuclear receptor subfamily 5, group A, member 1 371 Important for dimerization. cell-cell signaling|male gonad development|positive regulation of transcription from RNA polymerase II promoter|primary sex determination|regulation of steroid biosynthetic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm enzyme binding|phospholipid binding|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding 0 TGATGAACTTGAGGCAGACAA 0.652 NA 7 12 0 0 0 0 GAPVD1 26130 broad.mit.edu 37 9 128099315 128099315 + Missense_Mutation SNP C C T TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr9:128099315C>T uc010mwx.2 + 16 2773 c.2447C>T c.(2446-2448)TCT>TTT p.S816F GAPVD1_uc011lzs.1_Missense_Mutation_p.S816F|GAPVD1_uc004bpp.2_Missense_Mutation_p.S843F|GAPVD1_uc004bpq.2_Missense_Mutation_p.S816F|GAPVD1_uc004bpr.2_Missense_Mutation_p.S795F|GAPVD1_uc004bps.2_Missense_Mutation_p.S816F|GAPVD1_uc010mwy.1_Intron NM_015635 NP_056450 Q14C86 GAPD1_HUMAN GTPase activating protein and VPS9 domains 1 816 endocytosis|regulation of protein transport|regulation of small GTPase mediated signal transduction|signal transduction cytosol|endosome|membrane GTPase activating protein binding|GTPase activator activity|guanyl-nucleotide exchange factor activity ovary(2)|central_nervous_system(1)|skin(1) 4 CAGCTGACCTCTCCTCCTTCT 0.468 NA 22 31 0 0 0 0 PLCXD1 55344 broad.mit.edu 37 X 209702 209702 + Nonsense_Mutation SNP G G T rs146046082 TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chrX:209702G>T uc004cpc.2 + 6 862 c.550G>T c.(550-552)GAG>TAG p.E184* PLCXD1_uc011mgx.1_RNA NM_018390 NP_060860 Q9NUJ7 PLCX1_HUMAN phosphatidylinositol-specific phospholipase C, X 184 PI-PLC X-box. intracellular signal transduction|lipid metabolic process phospholipase C activity 0 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) TCCTTTGCAGGAGGTGCCGAC 0.667 NA 8 35 5.18e-06 6.18e-06 1 0 PIGA 5277 broad.mit.edu 37 X 15344163 15344163 + Missense_Mutation SNP C C T TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chrX:15344163C>T uc004cwr.2 - 3 821 c.721G>A c.(721-723)GAT>AAT p.D241N PIGA_uc010neu.2_5'Flank|PIGA_uc004cwq.2_5'UTR|PIGA_uc010nev.2_Intron|PIGA_uc004cws.2_5'UTR|PIGA_uc011miq.1_Missense_Mutation_p.D7N|PIGA_uc010new.1_Missense_Mutation_p.R116Q NM_002641 NP_002632 P37287 PIGA_HUMAN phosphatidylinositol 241 Cytoplasmic (Potential). C-terminal protein lipidation|positive regulation of metabolic process|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex|integral to membrane phosphatidylinositol N-acetylglucosaminyltransferase activity|protein binding 0 Hepatocellular(33;0.183) CTAAGCAAATCGATCCCTGAA 0.303 NA 24 32 0 0 0 0 YY2 404281 broad.mit.edu 37 X 21875522 21875522 + Missense_Mutation SNP G G T TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chrX:21875522G>T uc011mjp.1 + 1 920 c.920G>T c.(919-921)GGC>GTC p.G307V MBTPS2_uc004dae.2_Intron|MBTPS2_uc010nfr.2_Intron|YY2_uc010nfq.2_Missense_Mutation_p.G525V|MBTPS2_uc004dab.2_Intron NM_206923 NP_996806 O15391 TYY2_HUMAN YY2 transcription factor 307 Mediates transcriptional repression. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|plasma membrane DNA binding|zinc ion binding breast(1)|skin(1) 2 GTCCACACCGGCGAGAAGCCC 0.547 NA 90 84 2.62e-60 4.01e-60 1 0 FAM47A 158724 broad.mit.edu 37 X 34149264 34149264 + Missense_Mutation SNP C C T TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chrX:34149264C>T uc004ddg.2 - 1 1165 c.1132G>A c.(1132-1134)GAG>AAG p.E378K NM_203408 NP_981953 Q5JRC9 FA47A_HUMAN hypothetical protein LOC158724 378 ovary(4)|central_nervous_system(1) 5 TTGGAAGGCTCCGCGTGGAGA 0.637 NA 32 26 0 0 0 0 USP9X 8239 broad.mit.edu 37 X 41077827 41077827 + Missense_Mutation SNP G G A TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chrX:41077827G>A uc004dfb.2 + 37 7045 c.6412G>A c.(6412-6414)GCC>ACC p.A2138T USP9X_uc004dfc.2_Missense_Mutation_p.A2138T NM_001039590 NP_001034679 Q93008 USP9X_HUMAN ubiquitin specific protease 9, X-linked isoform 2138 BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process cytoplasm co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity lung(3)|breast(2)|ovary(1) 6 TTCACCTTTTGCCTCTCCTGG 0.428 NA 39 26 0 0 0 0 ZMYM3 9203 broad.mit.edu 37 X 70463741 70463741 + Missense_Mutation SNP G G A TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chrX:70463741G>A uc004dzh.1 - 21 3457 c.3370C>T c.(3370-3372)CGG>TGG p.R1124W BCYRN1_uc011mpt.1_Intron|ZMYM3_uc004dzi.1_Missense_Mutation_p.R1124W|ZMYM3_uc004dzj.1_Missense_Mutation_p.R1112W NM_201599 NP_963893 Q14202 ZMYM3_HUMAN zinc finger protein 261 1124 multicellular organismal development nucleus DNA binding|zinc ion binding ovary(1) 1 Renal(35;0.156) CCATTGGGCCGAGTGATTTCT 0.493 NA 28 20 0 0 0 0 NONO 4841 broad.mit.edu 37 X 70514351 70514351 + Missense_Mutation SNP G G A TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chrX:70514351G>A uc004dzo.2 + 6 1333 c.623G>A c.(622-624)TGC>TAC p.C208Y BCYRN1_uc011mpt.1_Intron|NONO_uc004dzn.2_Missense_Mutation_p.C208Y|NONO_uc004dzp.2_Missense_Mutation_p.C208Y|NONO_uc011mpv.1_Missense_Mutation_p.C119Y|NONO_uc004dzq.2_Missense_Mutation_p.C77Y NM_001145408 NP_001138880 Q15233 NONO_HUMAN non-POU domain containing, octamer-binding 208 RRM 2.|DBHS. DNA recombination|DNA repair|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent nuclear matrix|paraspeckles DNA binding|identical protein binding|nucleotide binding|RNA binding NONO/TFE3(2) ovary(2)|kidney(2) 4 Renal(35;0.156) CTGGACAGATGCAGTGAAGGC 0.502 NA T TFE3 papillary renal cancer 6 6 0 0 0 0 DACH2 117154 broad.mit.edu 37 X 85950137 85950137 + Missense_Mutation SNP G G T TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chrX:85950137G>T uc004eew.2 + 5 1056 c.886G>T c.(886-888)GCT>TCT p.A296S DACH2_uc004eex.2_Missense_Mutation_p.A283S|DACH2_uc010nmq.2_Missense_Mutation_p.A162S|DACH2_uc011mra.1_Missense_Mutation_p.A129S|DACH2_uc010nmr.2_Missense_Mutation_p.A77S NM_053281 NP_444511 Q96NX9 DACH2_HUMAN dachshund 2 isoform a 296 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|nucleotide binding p.A296A(1) ovary(4)|pancreas(1) 5 CATTGGGGGTGCTCCAACCCT 0.498 NA 8 4 5.18e-06 6.18e-06 1 0 KLHL4 56062 broad.mit.edu 37 X 86773057 86773057 + Missense_Mutation SNP G G T TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chrX:86773057G>T uc004efb.2 + 1 343 c.161G>T c.(160-162)AGC>ATC p.S54I KLHL4_uc004efa.2_Missense_Mutation_p.S54I NM_019117 NP_061990 Q9C0H6 KLHL4_HUMAN kelch-like 4 isoform 1 54 cytoplasm|microtubule cytoskeleton|nucleolus actin binding ovary(2)|lung(1)|breast(1)|central_nervous_system(1) 5 AGGTTGAAGAGCCACTCTCGG 0.542 NA 23 13 5.45e-15 7.64e-15 1 0 GPRASP1 9737 broad.mit.edu 37 X 101911283 101911283 + Missense_Mutation SNP G G C TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chrX:101911283G>C uc004ejj.3 + 5 3243 c.2442G>C c.(2440-2442)TGG>TGC p.W814C GPRASP1_uc004eji.3_Missense_Mutation_p.W814C|GPRASP1_uc010nod.2_Missense_Mutation_p.W814C NM_014710 NP_055525 Q5JY77 GASP1_HUMAN G protein-coupled receptor associated sorting 814 Glu-rich. cytoplasm protein binding ovary(1)|lung(1) 2 TTGGGTCCTGGTTTGGGGCCA 0.502 NA 56 51 0 0 0 0 DCX 1641 broad.mit.edu 37 X 110644424 110644424 + Missense_Mutation SNP T T C TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chrX:110644424T>C uc004epd.2 - 3 914 c.742A>G c.(742-744)AGT>GGT p.S248G DCX_uc011msv.1_Missense_Mutation_p.S248G|DCX_uc004epe.2_Missense_Mutation_p.S167G|DCX_uc004epf.2_Missense_Mutation_p.S167G|DCX_uc004epg.2_Missense_Mutation_p.S167G NM_000555 NP_000546 O43602 DCX_HUMAN doublecortin isoform a 248 axon guidance|central nervous system development|intracellular signal transduction cytosol|microtubule associated complex microtubule binding central_nervous_system(2)|lung(1)|skin(1) 4 GCCTGTGCACTGTTGCTGCTA 0.522 NA 37 26 0 0 0 0 THOC2 57187 broad.mit.edu 37 X 122802034 122802034 + Missense_Mutation SNP T T A TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chrX:122802034T>A uc004etu.2 - 10 1025 c.993A>T c.(991-993)GAA>GAT p.E331D THOC2_uc011muh.1_Missense_Mutation_p.E252D|THOC2_uc011mui.1_Missense_Mutation_p.E216D NM_001081550 NP_001075019 Q8NI27 THOC2_HUMAN THO complex 2 331 Potential. intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing THO complex part of transcription export complex protein binding|RNA binding ovary(3) 3 cctcttctttttccttttctt 0.209 NA 41 29 0 0 0 0 BCORL1 63035 broad.mit.edu 37 X 129149413 129149413 + Missense_Mutation SNP C C T TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chrX:129149413C>T uc004evb.1 + 4 2779 c.2665C>T c.(2665-2667)CCA>TCA p.P889S BCORL1_uc010nrd.1_Missense_Mutation_p.P791S NM_021946 NP_068765 Q5H9F3 BCORL_HUMAN BCL6 co-repressor-like 1 889 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus ovary(4)|breast(2)|lung(1) 7 TGAGGGGCAACCACGGCCTGG 0.572 NA 19 25 0 0 0 0 GPR101 83550 broad.mit.edu 37 X 136113046 136113046 + Missense_Mutation SNP C C T TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chrX:136113046C>T uc011mwh.1 - 1 788 c.788G>A c.(787-789)CGC>CAC p.R263H NM_054021 NP_473362 Q96P66 GP101_HUMAN G protein-coupled receptor 101 263 Cytoplasmic (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity ovary(3)|lung(1)|skin(1) 5 Acute lymphoblastic leukemia(192;0.000127) ATGCTGGCGGCGAAACTCACT 0.557 NA 58 55 0 0 0 0 SLITRK4 139065 broad.mit.edu 37 X 142717001 142717001 + Missense_Mutation SNP C C A TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chrX:142717001C>A uc004fbx.2 - 2 2300 c.1924G>T c.(1924-1926)GTC>TTC p.V642F SLITRK4_uc004fby.2_Missense_Mutation_p.V642F NM_173078 NP_775101 Q8IW52 SLIK4_HUMAN slit and trk like 4 protein precursor 642 Cytoplasmic (Potential). integral to membrane upper_aerodigestive_tract(1)|large_intestine(1) 2 Acute lymphoblastic leukemia(192;6.56e-05) CGTCGCAGGACAAAAACAAGA 0.478 NA 53 28 9.58e-29 1.43e-28 1 0 MAGEA10 4109 broad.mit.edu 37 X 151304000 151304000 + Silent SNP G G A TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chrX:151304000G>A uc004ffk.2 - 5 501 c.93C>T c.(91-93)CCC>CCT p.P31P MAGEA10_uc004ffl.2_Silent_p.P31P NM_001011543 NP_001011543 P43363 MAGAA_HUMAN melanoma antigen family A, 10 31 0 Acute lymphoblastic leukemia(192;6.56e-05) CCACAGCCAGGGGAGCCTGTG 0.418 NA 34 20 0 0 0 0 IL9R 3581 broad.mit.edu 37 X 155235022 155235022 + Missense_Mutation SNP A A T TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chrX:155235022A>T uc004fnv.1 + 6 838 c.659A>T c.(658-660)CAT>CTT p.H220L IL9R_uc010nvn.2_Missense_Mutation_p.H199L|IL9R_uc004fnu.1_Missense_Mutation_p.H255L NM_002186 NP_002177 Q01113 IL9R_HUMAN interleukin 9 receptor precursor 220 Extracellular (Potential).|Fibronectin type-III. cell proliferation extracellular space|integral to plasma membrane interleukin-9 receptor activity 0 all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) GGCTTTATCCATGAGGCCAGG 0.582 NA 52 55 0 0 0 0 PTPRU 10076 broad.mit.edu 37 1 29611279 29611279 + Frame_Shift_Del DEL C C - TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr1:29611279delC uc001bru.2 + 14 2326 c.2216delC c.(2215-2217)TCCfs p.S739fs PTPRU_uc001brv.2_Frame_Shift_Del_p.S739fs|PTPRU_uc001brw.2_Frame_Shift_Del_p.S739fs|PTPRU_uc009vtq.2_Frame_Shift_Del_p.S739fs|PTPRU_uc009vtr.2_Frame_Shift_Del_p.S739fs NM_005704 NP_005695 Q92729 PTPRU_HUMAN protein tyrosine phosphatase, receptor type, U 739 Extracellular (Potential). canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway cell-cell junction|integral to plasma membrane beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity large_intestine(3)|ovary(1)|kidney(1)|central_nervous_system(1)|skin(1) 7 Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123) Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871) CTGGAGGTGTCCCAGAGATCG 0.577 NA 26 86 --- --- --- --- NA NA NA NA SELP 6403 broad.mit.edu 37 1 169582838 169582838 + Frame_Shift_Del DEL G G - TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr1:169582838delG uc001ggi.3 - 4 640 c.575delC c.(574-576)CCAfs p.P192fs SELP_uc001ggh.2_Frame_Shift_Del_p.P27fs|SELP_uc009wvr.2_Frame_Shift_Del_p.P192fs NM_003005 NP_002996 P16109 LYAM3_HUMAN selectin P precursor 192 Extracellular (Potential).|EGF-like. platelet activation|platelet degranulation|positive regulation of platelet activation external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding ovary(2)|skin(2) 4 all_hematologic(923;0.208) Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775) TTCACATTCTGGCCCATAGAA 0.453 NA 20 65 --- --- --- --- NA NA NA NA OR8J1 219477 broad.mit.edu 37 11 56128025 56128025 + Frame_Shift_Del DEL G G - TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr11:56128025delG uc010rjh.1 + 1 303 c.303delG c.(301-303)CTGfs p.L101fs NM_001005205 NP_001005205 Q8NGP2 OR8J1_HUMAN olfactory receptor, family 8, subfamily J, 101 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2) 2 Esophageal squamous(21;0.00448) CCACCCAACTGGGAGGGTTCT 0.413 NA 38 89 --- --- --- --- NA NA NA NA CD163 9332 broad.mit.edu 37 12 7639140 7639141 + Frame_Shift_Ins INS - - C TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr12:7639140_7639141insC uc001qsz.3 - 10 2540_2541 c.2412_2413insG c.(2410-2415)GGGCAGfs p.G804fs CD163_uc001qta.3_Frame_Shift_Ins_p.G804fs|CD163_uc009zfw.2_Frame_Shift_Ins_p.G837fs NM_004244 NP_004235 Q86VB7 C163A_HUMAN CD163 antigen isoform a 804_805 SRCR 7.|Extracellular (Potential). acute-phase response extracellular region|integral to plasma membrane protein binding|scavenger receptor activity ovary(6)|pancreas(1)|skin(1) 8 CAATTTTGCTGCCCCCAGCCGT 0.48 NA 57 214 --- --- --- --- NA NA NA NA PCDH8 5100 broad.mit.edu 37 13 53421350 53421351 + Frame_Shift_Del DEL CG CG - TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr13:53421350_53421351delCG uc001vhi.2 - 1 1424_1425 c.1221_1222delCG c.(1219-1224)CGCGAGfs p.R407fs PCDH8_uc001vhj.2_Frame_Shift_Del_p.R407fs NM_002590 NP_002581 O95206 PCDH8_HUMAN protocadherin 8 isoform 1 precursor 407_408 Extracellular (Potential).|Cadherin 4. cell-cell signaling|homophilic cell adhesion cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane calcium ion binding breast(1) 1 Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173) GBM - Glioblastoma multiforme(99;2.19e-08) ACCAGGCTCTCGCGCGCCGCCC 0.757 NA 4 9 --- --- --- --- NA NA NA NA MTA1 9112 broad.mit.edu 37 14 105920619 105920619 + Frame_Shift_Del DEL G G - TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr14:105920619delG uc001yqx.2 + 7 709 c.522delG c.(520-522)CAGfs p.Q174fs MTA1_uc001yqy.2_RNA|MTA1_uc001yqz.1_Frame_Shift_Del_p.Q88fs|MTA1_uc001yra.1_Frame_Shift_Del_p.Q88fs NM_004689 NP_004680 Q13330 MTA1_HUMAN metastasis associated protein 174 ELM2. signal transduction cytoplasm|nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(1) 2 all_cancers(154;0.0293)|all_epithelial(191;0.128)|Melanoma(154;0.155) OV - Ovarian serous cystadenocarcinoma(23;0.00897)|Epithelial(46;0.026) Epithelial(152;0.19) ACCGGTACCAGGCAGACATCA 0.542 NA 14 45 --- --- --- --- NA NA NA NA TP53 7157 broad.mit.edu 37 17 7579433 7579433 + Frame_Shift_Del DEL G G - TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr17:7579433delG uc002gim.2 - 4 448 c.254delC c.(253-255)CCTfs p.P85fs TP53_uc002gig.1_Frame_Shift_Del_p.P85fs|TP53_uc002gih.2_Frame_Shift_Del_p.P85fs|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_5'Flank|TP53_uc010cng.1_5'Flank|TP53_uc002gii.1_5'Flank|TP53_uc010cnh.1_Frame_Shift_Del_p.P85fs|TP53_uc010cni.1_Frame_Shift_Del_p.P85fs|TP53_uc002gij.2_Frame_Shift_Del_p.P85fs|TP53_uc010cnj.1_5'Flank|TP53_uc002gin.2_Intron|TP53_uc002gio.2_Intron|TP53_uc010vug.1_Frame_Shift_Del_p.P46fs|TP53_uc010cnk.1_Frame_Shift_Del_p.P100fs NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 85 Interaction with WWOX. P -> S (in sporadic cancers; somatic mutation).|P -> L (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.0?(7)|p.A76_S90del15(3)|p.G59fs*23(3)|p.P85S(2)|p.V73fs*9(1)|p.A86fs*59(1)|p.P85fs*63(1)|p.P85fs*58(1)|p.D48fs*55(1)|p.A86fs*32(1)|p.P85fs*59(1)|p.A79_A88del10(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.P85L(1)|p.A83fs*35(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) GGCTGGTGCAGGGGCCGCCGG 0.622 111 Mis|N|F breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types Other_conserved_DNA_damage_response_genes Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 40 57 --- --- --- --- NA NA NA NA PEG3 5178 broad.mit.edu 37 19 57327872 57327872 + Frame_Shift_Del DEL C C - TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr19:57327872delC uc002qnu.2 - 7 2289 c.1938delG c.(1936-1938)CAGfs p.Q646fs ZIM2_uc010ygq.1_Intron|ZIM2_uc010ygr.1_Intron|ZIM2_uc002qnr.2_Intron|ZIM2_uc002qnq.2_Intron|ZIM2_uc010etp.2_Intron|ZIM2_uc010ygs.1_Intron|PEG3_uc002qnt.2_Frame_Shift_Del_p.Q617fs|PEG3_uc002qnv.2_Frame_Shift_Del_p.Q646fs|PEG3_uc002qnw.2_Frame_Shift_Del_p.Q522fs|PEG3_uc002qnx.2_Frame_Shift_Del_p.Q520fs|PEG3_uc010etr.2_Frame_Shift_Del_p.Q646fs NM_001146186 NP_001139658 Q9GZU2 PEG3_HUMAN paternally expressed 3 isoform 1 646 C2H2-type 4. apoptosis|viral reproduction cytoplasm|nucleus nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1) 12 Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0269) TATGGATTTTCTGATGTTCTT 0.398 NA 31 100 --- --- --- --- NA NA NA NA CNGA3 1261 broad.mit.edu 37 2 99013410 99013410 + Frame_Shift_Del DEL G G - TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr2:99013410delG uc002syt.2 + 8 2194 c.1777delG c.(1777-1779)GAAfs p.E593fs CNGA3_uc002syu.2_Frame_Shift_Del_p.E575fs|CNGA3_uc010fij.2_Frame_Shift_Del_p.E597fs NM_001298 NP_001289 Q16281 CNGA3_HUMAN cyclic nucleotide gated channel alpha 3 isoform 593 cGMP. E -> K (in ACHM2). signal transduction|visual perception integral to membrane cGMP binding ovary(5)|upper_aerodigestive_tract(1) 6 CGAGTACCCCGAAGCCAAGAA 0.612 NA 28 45 --- --- --- --- NA NA NA NA IL1F9 56300 broad.mit.edu 37 2 113737705 113737706 + Frame_Shift_Ins INS - - A TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr2:113737705_113737706insA uc002tio.1 + 4 349_350 c.280_281insA c.(280-282)CAGfs p.Q94fs IL1F9_uc010fkr.1_Frame_Shift_Ins_p.Q59fs NM_019618 NP_062564 Q9NZH8 IL36G_HUMAN interleukin 1 family, member 9 94 cell-cell signaling extracellular space cytokine activity|interleukin-1 receptor antagonist activity 0 GGTTGGAGAACAGCCCACATTG 0.371 NA 15 38 --- --- --- --- NA NA NA NA TTN 7273 broad.mit.edu 37 2 179404975 179404975 + Frame_Shift_Del DEL G G - TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr2:179404975delG uc010zfg.1 - 300 90438 c.90214delC c.(90214-90216)CAAfs p.Q30072fs uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Frame_Shift_Del_p.Q23767fs|TTN_uc010zfi.1_Frame_Shift_Del_p.Q23700fs|TTN_uc010zfj.1_Frame_Shift_Del_p.Q23575fs NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 30999 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TCTACTTTTTGCATTTCAATC 0.443 NA 74 214 --- --- --- --- NA NA NA NA CREB1 1385 broad.mit.edu 37 2 208420421 208420421 + Frame_Shift_Del DEL A A - TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr2:208420421delA uc002vcc.2 + 2 313 c.62delA c.(61-63)GAAfs p.E21fs CREB1_uc010ziz.1_Frame_Shift_Del_p.E19fs|CREB1_uc002vcd.2_Frame_Shift_Del_p.E21fs NM_134442 NP_604391 P16220 CREB1_HUMAN cAMP responsive element binding protein 1 21 activation of phospholipase C activity|axon guidance|innate immune response|interspecies interaction between organisms|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of transcription from RNA polymerase II promoter|protein phosphorylation|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway protein dimerization activity|transcription cofactor activity EWSR1/CREB1(42) soft_tissue(42)|breast(1)|central_nervous_system(1) 44 LUSC - Lung squamous cell carcinoma(261;0.0768)|Epithelial(149;0.127)|Lung(261;0.145) Adenosine monophosphate(DB00131)|Bromocriptine(DB01200)|Naloxone(DB01183) ACAGAAGCTGAAAACCAACAA 0.433 NA T EWSR1 clear cell sarcoma|angiomatoid fibrous histiocytoma 10 17 --- --- --- --- NA NA NA NA COL6A3 1293 broad.mit.edu 37 2 238303598 238303598 + Frame_Shift_Del DEL C C - TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr2:238303598delC uc002vwl.2 - 3 626 c.341delG c.(340-342)GGAfs p.G114fs COL6A3_uc002vwo.2_Intron|COL6A3_uc010znj.1_Intron|COL6A3_uc002vwq.2_Intron|COL6A3_uc002vwr.2_Intron|COL6A3_uc010znk.1_Frame_Shift_Del_p.G114fs NM_004369 NP_004360 P12111 CO6A3_HUMAN alpha 3 type VI collagen isoform 1 precursor 114 VWFA 1.|Nonhelical region. axon guidance|cell adhesion|muscle organ development collagen type VI|extracellular space serine-type endopeptidase inhibitor activity p.G114*(1) ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1) 18 Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203) Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034) CTGATTGGTTCCCCCAATATA 0.458 NA 22 90 --- --- --- --- NA NA NA NA POU4F2 5458 broad.mit.edu 37 4 147560457 147560458 + In_Frame_Ins INS - - GGC rs67907220 TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr4:147560457_147560458insGGC uc003ikv.2 + 1 413_414 c.165_166insGGC c.(163-168)insGGC p.68_69insG NM_004575 NP_004566 Q12837 PO4F2_HUMAN Brn3b POU domain transcription factor 68_69 estrogen receptor signaling pathway|MAPKKK cascade|negative regulation of transcription from RNA polymerase II promoter nuclear speck RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription breast(1) 1 all_hematologic(180;0.151) ACGCTggtggtggcggcggcgg 0.386 NA 7 15 --- --- --- --- NA NA NA NA LPA 4018 broad.mit.edu 37 6 161020587 161020587 + Frame_Shift_Del DEL A A - TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr6:161020587delA uc003qtl.2 - 21 3352 c.3232delT c.(3232-3234)TGGfs p.W1078fs NM_005577 NP_005568 P08519 APOA_HUMAN lipoprotein Lp(a) precursor 3586 Kringle 32. blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis plasma lipoprotein particle apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity ovary(3)|skin(2)|pancreas(1) 6 Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965) OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06) Aminocaproic Acid(DB00513) ATAGATGACCAAGCTTGGCAA 0.502 NA 9 687 --- --- --- --- NA NA NA NA HNRNPA2B1 3181 broad.mit.edu 37 7 26232884 26232885 + Frame_Shift_Ins INS - - C TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr7:26232884_26232885insC uc003sxr.3 - 10 1202_1203 c.986_987insG c.(985-987)GGAfs p.G329fs HNRNPA2B1_uc003sxs.3_Frame_Shift_Ins_p.G317fs NM_031243 NP_112533 P22626 ROA2_HUMAN heterogeneous nuclear ribonucleoprotein A2/B1 329 Gly-rich.|Nuclear targeting sequence (By similarity). RNA transport catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm nucleotide binding|protein binding|protein binding|RNA binding|single-stranded telomeric DNA binding ovary(1)|central_nervous_system(1)|skin(1) 3 CACCATATGGTCCCCCCATGTT 0.361 NA T ETV1 prostate 25 107 --- --- --- --- NA NA NA NA MAPK15 225689 broad.mit.edu 37 8 144804268 144804272 + Frame_Shift_Del DEL GGCCC GGCCC - TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chr8:144804268_144804272delGGCCC uc003yzj.2 + 14 1523_1527 c.1482_1486delGGCCC c.(1480-1488)GAGGCCCGGfs p.E494fs NM_139021 NP_620590 Q8TD08 MK15_HUMAN mitogen-activated protein kinase 15 494_496 protein autophosphorylation extracellular region ATP binding|MAP kinase activity|SH3 domain binding lung(2) 2 all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146) TTCCTCCGGAGGCCCGGCCCGGCCG 0.659 NA 25 180 --- --- --- --- NA NA NA NA MXRA5 25878 broad.mit.edu 37 X 3235326 3235327 + Frame_Shift_Del DEL GC GC - TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chrX:3235326_3235327delGC uc004crg.3 - 6 6552_6553 c.6395_6396delGC c.(6394-6396)CGCfs p.R2132fs NM_015419 NP_056234 Q9NR99 MXRA5_HUMAN adlican precursor 2132 Ig-like C2-type 5. extracellular region ovary(5)|lung(1)|central_nervous_system(1)|skin(1) 8 all_lung(23;0.00031)|Lung NSC(23;0.000946) GCACCGTCCTGCGCGCGGAGCC 0.663 NA 6 5 --- --- --- --- NA NA NA NA IL1RAPL2 26280 broad.mit.edu 37 X 104440323 104440323 + Frame_Shift_Del DEL G G - TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5047f1e-5088-4d30-927d-e64147fe661d 76d2a8b9-826c-48a4-99f5-f5d826aac3a0 g.chrX:104440323delG uc004elz.1 + 3 1005 c.249delG c.(247-249)TTGfs p.L83fs NM_017416 NP_059112 Q9NP60 IRPL2_HUMAN interleukin 1 receptor accessory protein-like 2 83 Ig-like C2-type 1.|Extracellular (Potential). central nervous system development|innate immune response integral to membrane interleukin-1, Type II, blocking receptor activity breast(2)|ovary(1) 3 AAGGTGATTTGGAAGAGCCCA 0.448 NA 28 23 --- --- --- --- NA NA NA NA