Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content ACHILLES_Top_Genes CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_status validation_method validation_tumor_sample validation_alt_allele pox qox pox_cutoff isArtifactMode oxoGCut AJAP1 55966 broad.mit.edu 37 1 4829932 4829932 + Silent SNP C C A TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr1:4829932C>A uc001alm.1 + 3 1230 c.849C>A c.(847-849)ATC>ATA p.I283I AJAP1_uc001aln.2_Silent_p.I283I NM_001042478 NP_001035943 Q9UKB5 AJAP1_HUMAN adherens junction associated protein 1 283 Helical; Signal-anchor for type III membrane protein; (Potential). cell adhesion adherens junction|apical plasma membrane|basolateral plasma membrane|integral to membrane lung(1) 1 all_cancers(77;0.071)|Ovarian(185;0.0721) all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215) Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689) TCCATCAGATCATCACCATCA 0.542 NA 91 114 3.06722e-38 6.19537e-38 0.00361 1 0 CAMTA1 23261 broad.mit.edu 37 1 7723976 7723976 + Missense_Mutation SNP C C T TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr1:7723976C>T uc001aoi.2 + 9 1576 c.1369C>T c.(1369-1371)CCC>TCC p.P457S NM_015215 NP_056030 Q9Y6Y1 CMTA1_HUMAN calmodulin-binding transcription activator 1 457 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus calmodulin binding ovary(5)|central_nervous_system(2)|breast(1)|pancreas(1) 9 Ovarian(185;0.0634) all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388) UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133) GTCCATGCTGCCCACCAACGT 0.607 NA 11 83 0 0 0.008291 0 0 PRAMEF6 440561 broad.mit.edu 37 1 13001288 13001288 + Missense_Mutation SNP T T G TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr1:13001288T>G uc001auq.2 - 3 481 c.395A>C c.(394-396)AAA>ACA p.K132T PRAMEF5_uc001aur.2_Intron NM_001010889 NP_001010889 Q5VXH4 PRAM6_HUMAN PRAME family member 6 132 0 Ovarian(185;0.249) Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) CACTGGTGTTTTGTTCCTCTT 0.493 NA 43 729 0 0 0.002222 0 0 PRDM2 7799 broad.mit.edu 37 1 14106289 14106289 + Missense_Mutation SNP C C G TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr1:14106289C>G uc001avi.2 + 8 2855 c.1999C>G c.(1999-2001)CTT>GTT p.L667V PRDM2_uc001avg.2_Intron|PRDM2_uc001avh.2_Missense_Mutation_p.L667V|PRDM2_uc001avj.2_Intron|PRDM2_uc009vod.1_Missense_Mutation_p.L424V|PRDM2_uc001avk.2_Missense_Mutation_p.L466V|PRDM2_uc009voe.2_Intron|PRDM2_uc009vof.2_Intron NM_012231 NP_036363 Q13029 PRDM2_HUMAN retinoblastoma protein-binding zinc finger 667 Golgi apparatus|nucleus DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1) 1 Ovarian(185;0.249) all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255) GBM - Glioblastoma multiforme(2;0.00182) UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145) CTCTTTAAGTCTTCCTCTTAG 0.453 NA 29 28 0 0 0.007291 0 0 GRHL3 57822 broad.mit.edu 37 1 24658015 24658015 + Silent SNP G G A rs142785065 TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr1:24658015G>A uc001biy.2 + 2 178 c.132G>A c.(130-132)CCG>CCA p.P44P GRHL3_uc001bix.2_Silent_p.P39P|GRHL3_uc001biz.2_Intron NM_021180 NP_067003 Q8TE85 GRHL3_HUMAN sister-of-mammalian grainyhead protein isoform 39 Transcription activation. regulation of actin cytoskeleton organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding ovary(1) 1 Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143) TAGAAAACCCGTTGACAGCTG 0.493 NA 14 70 0 0 0.001855 0 0 ERMAP 114625 broad.mit.edu 37 1 43308742 43308742 + Missense_Mutation SNP G G T TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr1:43308742G>T uc001cic.1 + 12 1537 c.1267G>T c.(1267-1269)GTC>TTC p.V423F ERMAP_uc001cid.1_RNA|ERMAP_uc001cie.1_Missense_Mutation_p.V423F|ERMAP_uc001cif.1_Missense_Mutation_p.V333F NM_001017922 NP_001017922 Q96PL5 ERMAP_HUMAN erythroblast membrane-associated protein 423 Cytoplasmic (Potential). Missing (in Sc-3 allele). integral to membrane|plasma membrane ovary(1) 1 Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0333) GGAATCAATTGTCCCCAGGCC 0.478 NA 43 68 3.54561e-26 6.93211e-26 0.002222 1 0 ZFYVE9 9372 broad.mit.edu 37 1 52800415 52800415 + Silent SNP C C T TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr1:52800415C>T uc001cto.2 + 15 3817 c.3645C>T c.(3643-3645)TAC>TAT p.Y1215Y ZFYVE9_uc001ctp.2_Silent_p.Y1156Y NM_004799 NP_004790 O95405 ZFYV9_HUMAN zinc finger, FYVE domain containing 9 isoform 3 1215 endocytosis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway early endosome membrane metal ion binding|protein binding|receptor activity|serine-type peptidase activity ovary(2)|lung(2)|central_nervous_system(2)|skin(2) 8 CTTCTGGATACCTTGCCAAGT 0.403 NA 28 55 0 0 0.00632 0 0 ORC1L 4998 broad.mit.edu 37 1 52867035 52867035 + Silent SNP A A G TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr1:52867035A>G uc001ctt.2 - 3 441 c.222T>C c.(220-222)GAT>GAC p.D74D ORC1L_uc010oni.1_Silent_p.D74D|ORC1L_uc001ctu.2_Silent_p.D74D|ORC1L_uc009vzd.2_Intron NM_004153 NP_004144 Q13415 ORC1_HUMAN origin recognition complex, subunit 1 74 BAH. cell cycle checkpoint|DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle cytosol|nuclear origin of replication recognition complex|nucleolus|nucleoplasm|plasma membrane ATP binding|DNA binding|nucleoside-triphosphatase activity|protein binding 0 CAAACTCACCATCTTCGAACA 0.438 NA 16 107 0 0 0.004007 0 0 ZCCHC11 23318 broad.mit.edu 37 1 52926859 52926859 + Missense_Mutation SNP C C A TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr1:52926859C>A uc001ctx.2 - 19 3502 c.3268G>T c.(3268-3270)GCT>TCT p.A1090S ZCCHC11_uc001cty.2_Missense_Mutation_p.A1090S|ZCCHC11_uc001ctz.2_Missense_Mutation_p.A1090S|ZCCHC11_uc009vze.1_Missense_Mutation_p.A1090S|ZCCHC11_uc009vzf.1_Missense_Mutation_p.A849S|ZCCHC11_uc001cua.1_Missense_Mutation_p.A7S NM_015269 NP_056084 Q5TAX3 TUT4_HUMAN zinc finger, CCHC domain containing 11 isoform 1090 miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance cytoplasm|nucleolus nucleic acid binding|protein binding|protein binding|RNA uridylyltransferase activity|zinc ion binding ovary(2)|skin(1) 3 GGATCAATAGCTGCATAAGTA 0.279 NA 37 43 1.15183e-24 2.20949e-24 0.002222 1 0 C1orf175 374977 broad.mit.edu 37 1 55144499 55144499 + Missense_Mutation SNP C C T TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr1:55144499C>T uc010ooe.1 + 11 2345 c.2021C>T c.(2020-2022)CCG>CTG p.P674L C1orf175_uc001cxq.2_RNA|C1orf175_uc010ooc.1_Missense_Mutation_p.P242L|C1orf175_uc001cxs.2_RNA|C1orf175_uc010ood.1_Missense_Mutation_p.P192L|C1orf175_uc010oof.1_RNA|C1orf175_uc001cxr.1_RNA|C1orf175_uc010oog.1_Missense_Mutation_p.P674L|C1orf175_uc010ooh.1_RNA|C1orf175_uc009vzq.1_RNA|C1orf175_uc001cxt.1_RNA NM_001039464 NP_001034553 Q68CQ1 HEAT8_HUMAN hypothetical protein LOC374977 674 integral to membrane binding 0 CCTGTGAGCCCGTGCCAGAAC 0.587 NA 15 36 0 0 0.004007 0 0 LRRC7 57554 broad.mit.edu 37 1 70300548 70300548 + Missense_Mutation SNP G G C TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr1:70300548G>C uc001dep.2 + 4 502 c.472G>C c.(472-474)GGA>CGA p.G158R LRRC7_uc001deo.1_Missense_Mutation_p.G196R|LRRC7_uc009wbg.2_5'UTR NM_020794 NP_065845 Q96NW7 LRRC7_HUMAN leucine rich repeat containing 7 158 LRR 6. centrosome|focal adhesion|nucleolus protein binding ovary(9)|breast(2)|central_nervous_system(2)|liver(1) 14 AGCCAATTTTGGAAGGTAAGA 0.388 NA 17 32 0 0 0.00499 0 0 LPHN2 23266 broad.mit.edu 37 1 82409007 82409007 + Missense_Mutation SNP A A T TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr1:82409007A>T uc001dit.3 + 6 933 c.752A>T c.(751-753)CAT>CTT p.H251L LPHN2_uc001dis.2_Intron|LPHN2_uc001diu.2_Missense_Mutation_p.H251L|LPHN2_uc001div.2_Missense_Mutation_p.H251L|LPHN2_uc009wcd.2_Missense_Mutation_p.H251L NM_012302 NP_036434 O95490 LPHN2_HUMAN latrophilin 2 precursor 251 Extracellular (Potential).|Olfactomedin-like. neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding ovary(3)|lung(3)|breast(2)|central_nervous_system(1) 9 all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248) GCCAACTACCATGATACCTCA 0.403 NA 12 46 0 0 0.000978 0 0 S1PR1 1901 broad.mit.edu 37 1 101704965 101704965 + Missense_Mutation SNP G G T TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr1:101704965G>T uc001dud.2 + 2 939 c.425G>T c.(424-426)CGC>CTC p.R142L S1PR1_uc009weg.2_Missense_Mutation_p.R142L NM_001400 NP_001391 P21453 S1PR1_HUMAN sphingosine-1-phosphate receptor 1 142 Cytoplasmic (By similarity). cell adhesion integral to membrane lysosphingolipid and lysophosphatidic acid receptor activity ovary(2)|lung(1) 3 GCCATTGAGCGCTATATCACA 0.547 NA OREG0013620 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 41 86 2.47872e-24 4.72507e-24 0.002522 1 0 NBPF10 100132406 broad.mit.edu 37 1 145367767 145367767 + Missense_Mutation SNP G G A rs77484671 TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr1:145367767G>A uc001end.3 + 85 10623 c.10588G>A c.(10588-10590)GAA>AAA p.E3530K NBPF9_uc010oye.1_Intron|NBPF10_uc001emp.3_Intron|NBPF10_uc010oyi.1_Intron|NBPF10_uc010oyk.1_Intron|NBPF10_uc010oyl.1_Intron NM_001039703 NP_001034792 A6NDV3 A6NDV3_HUMAN hypothetical protein LOC100132406 3455 0 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) atcaaagaaggaaagaagaag 0.254 NA 5 46 0 0 0.000602 0 0 THEM5 284486 broad.mit.edu 37 1 151820257 151820257 + Silent SNP G G T TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr1:151820257G>T uc009wnd.2 - 5 789 c.657C>A c.(655-657)ATC>ATA p.I219I NM_182578 NP_872384 Q8N1Q8 THEM5_HUMAN thioesterase superfamily member 5 219 hydrolase activity ovary(1)|skin(1) 2 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14) LUSC - Lung squamous cell carcinoma(543;0.181) TGCTGTGGGCGATGCAGGACA 0.582 NA 18 41 4.35082e-09 6.41062e-09 0.001523 1 0 FLG2 388698 broad.mit.edu 37 1 152324012 152324012 + Missense_Mutation SNP G G T TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr1:152324012G>T uc001ezw.3 - 3 6323 c.6250C>A c.(6250-6252)CAC>AAC p.H2084N uc001ezv.2_Intron NM_001014342 NP_001014364 Q5D862 FILA2_HUMAN filaggrin family member 2 2084 calcium ion binding|structural molecule activity ovary(10)|skin(5)|upper_aerodigestive_tract(1)|breast(1) 17 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TGACCAGAGTGAGCATGTCTA 0.532 NA 100 356 7.47877e-49 1.53089e-48 0.00361 1 0 DCST2 127579 broad.mit.edu 37 1 155006119 155006119 + Missense_Mutation SNP G G A TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr1:155006119G>A uc001fgm.2 - 1 139 c.59C>T c.(58-60)GCG>GTG p.A20V DCST2_uc009wpb.2_RNA|DCST1_uc010per.1_5'Flank|DCST1_uc001fgn.1_5'Flank|DCST1_uc010pes.1_5'Flank NM_144622 NP_653223 Q5T1A1 DCST2_HUMAN DC-STAMP domain containing 2 20 Cytoplasmic (Potential). integral to membrane ovary(2)|central_nervous_system(1) 3 all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) BRCA - Breast invasive adenocarcinoma(34;0.00034) CACAGCTCTCGCCATGCTAGG 0.602 NA 28 60 0 0 0.00632 0 0 NCSTN 23385 broad.mit.edu 37 1 160324028 160324028 + Missense_Mutation SNP C C G TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr1:160324028C>G uc001fvx.2 + 11 1424 c.1300C>G c.(1300-1302)CGA>GGA p.R434G NCSTN_uc001fvy.2_Missense_Mutation_p.R414G|NCSTN_uc010pjf.1_Missense_Mutation_p.R296G|NCSTN_uc001fvz.2_Missense_Mutation_p.R214G|NCSTN_uc010pjg.1_Missense_Mutation_p.R176G NM_015331 NP_056146 Q92542 NICA_HUMAN nicastrin precursor 434 Extracellular (Potential). amyloid precursor protein catabolic process|apoptosis|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity|protein processing endoplasmic reticulum|Golgi apparatus|integral to plasma membrane|melanosome protein binding ovary(1)|lung(1) 2 all_cancers(52;8.15e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) TCTTCGAGCTCGAAACATCTC 0.522 NA 17 85 0 0 0.00499 0 0 CD84 8832 broad.mit.edu 37 1 160523270 160523270 + Missense_Mutation SNP G G T TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr1:160523270G>T uc001fwh.3 - 4 682 c.658C>A c.(658-660)CGT>AGT p.R220S CD84_uc001fwf.3_Missense_Mutation_p.R220S|CD84_uc001fwg.3_Missense_Mutation_p.R220S|CD84_uc009wtn.2_Missense_Mutation_p.R220S|CD84_uc001fwi.3_Missense_Mutation_p.R106S|CD84_uc001fwj.2_Missense_Mutation_p.R220S NM_003874 NP_003865 Q9UIB8 SLAF5_HUMAN CD84 molecule 220 Extracellular (Potential). blood coagulation|defense response|homophilic cell adhesion|leukocyte migration integral to plasma membrane receptor activity ovary(2)|central_nervous_system(1)|skin(1) 4 all_cancers(52;3.62e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.0175) TGGTGAGTACGGAAGCCCATT 0.493 NA 17 51 3.41278e-10 5.1786e-10 0.00499 1 0 ZNF648 127665 broad.mit.edu 37 1 182026538 182026538 + Missense_Mutation SNP G G T TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr1:182026538G>T uc001goz.2 - 2 816 c.608C>A c.(607-609)ACG>AAG p.T203K NM_001009992 NP_001009992 Q5T619 ZN648_HUMAN zinc finger protein 648 203 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 TGTCTCTTGCGTGGGAAGGTC 0.592 NSCLC(71;908 1374 5429 20458 35642) NA 21 18 0.00121646 0.00151437 0.008871 1 0 MARK1 4139 broad.mit.edu 37 1 220824025 220824025 + Missense_Mutation SNP G G A TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr1:220824025G>A uc001hmn.3 + 14 2131 c.1534G>A c.(1534-1536)GAT>AAT p.D512N MARK1_uc009xdw.2_Missense_Mutation_p.D512N|MARK1_uc010pun.1_Missense_Mutation_p.D512N|MARK1_uc001hmm.3_Missense_Mutation_p.D490N NM_018650 NP_061120 Q9P0L2 MARK1_HUMAN MAP/microtubule affinity-regulating kinase 1 512 intracellular protein kinase cascade cytoplasm|microtubule cytoskeleton ATP binding|magnesium ion binding|protein serine/threonine kinase activity ovary(4)|central_nervous_system(2)|skin(2)|stomach(1)|lung(1) 10 GBM - Glioblastoma multiforme(131;0.0407) AAGGACCACAGATCGATACGT 0.383 NA 53 62 0 0 0.00361 0 0 ZNF678 339500 broad.mit.edu 37 1 227843408 227843408 + Missense_Mutation SNP A A G TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr1:227843408A>G uc001hqw.1 + 4 1802 c.1457A>G c.(1456-1458)GAG>GGG p.E486G ZNF678_uc009xet.1_Intron|ZNF678_uc009xeu.1_Intron NM_178549 NP_848644 F5GXA7 F5GXA7_HUMAN zinc finger protein 678 541 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding pancreas(1) 1 Prostate(94;0.0885) CATACTGGAGAGAAACGCTAC 0.358 NA 17 36 0 0 0.004007 0 0 OR2T3 343173 broad.mit.edu 37 1 248637509 248637509 + Missense_Mutation SNP C C G TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr1:248637509C>G uc001iel.1 + 1 858 c.858C>G c.(856-858)TTC>TTG p.F286L NM_001005495 NP_001005495 Q8NH03 OR2T3_HUMAN olfactory receptor, family 2, subfamily T, 286 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) ACACCATCTTCACTCCTGTGC 0.502 NA 63 271 0 0 0.00361 0 0 ST8SIA6 338596 broad.mit.edu 37 10 17495594 17495594 + Missense_Mutation SNP C C T TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr10:17495594C>T uc001ipd.2 - 2 164 c.164G>A c.(163-165)CGG>CAG p.R55Q ST8SIA6_uc010qce.1_RNA NM_001004470 NP_001004470 P61647 SIA8F_HUMAN ST8 alpha-N-acetyl-neuraminide 55 Lumenal (Potential). post-translational protein modification|protein N-linked glycosylation via asparagine integral to Golgi membrane alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity ovary(1) 1 CGCCGGGCTCCGGAGCGTCCT 0.716 NA 4 2 0 0 0.000602 0 0 PHYHIPL 84457 broad.mit.edu 37 10 60998401 60998401 + Missense_Mutation SNP G G A TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr10:60998401G>A uc001jkk.3 + 4 798 c.532G>A c.(532-534)GGA>AGA p.G178R PHYHIPL_uc001jkl.3_Missense_Mutation_p.G132R|PHYHIPL_uc001jkm.3_Missense_Mutation_p.G152R NM_032439 NP_115815 Q96FC7 PHIPL_HUMAN phytanoyl-CoA 2-hydroxylase interacting 178 0 AGTGATTGCAGGACGCATGCT 0.308 NA 20 69 0 0 0.007413 0 0 LRRTM3 347731 broad.mit.edu 37 10 68857466 68857466 + Missense_Mutation SNP C C A TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr10:68857466C>A uc001jmz.1 + 3 2208 c.1658C>A c.(1657-1659)ACG>AAG p.T553K CTNNA3_uc009xpn.1_Intron|CTNNA3_uc001jmw.2_Intron|CTNNA3_uc001jmx.3_Intron|CTNNA3_uc009xpo.1_Intron NM_178011 NP_821079 Q86VH5 LRRT3_HUMAN leucine rich repeat transmembrane neuronal 3 553 Cytoplasmic (Potential). integral to membrane upper_aerodigestive_tract(1)|ovary(1)|skin(1) 3 CAGGAAGATACGATGGAAACA 0.468 NA 12 60 2.27111e-07 3.09236e-07 0.001368 1 0 DDIT4 54541 broad.mit.edu 37 10 74034719 74034719 + Missense_Mutation SNP C C T TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr10:74034719C>T uc001jsx.1 + 3 674 c.472C>T c.(472-474)CAC>TAC p.H158Y NM_019058 NP_061931 Q9NX09 DDIT4_HUMAN RTP801 158 apoptosis pancreas(1) 1 CAAGAGCTGCCACAGCGTGGG 0.687 NA OREG0020262 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 9 29 0 0 0.006214 0 0 HPS6 79803 broad.mit.edu 37 10 103826990 103826990 + Missense_Mutation SNP G G A TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr10:103826990G>A uc001kuj.2 + 1 1844 c.1759G>A c.(1759-1761)GCA>ACA p.A587T NM_024747 NP_079023 Q86YV9 HPS6_HUMAN Hermansky-Pudlak syndrome-6 587 cytosol|early endosome membrane|endoplasmic reticulum|microsome 0 Colorectal(252;0.122) Epithelial(162;5.93e-08)|all cancers(201;1.03e-06) TGTGGAGCTGGCACAGCAGCA 0.662 NA Hermansky-Pudlak_syndrome 22 33 0 0 0.001523 0 0 C10orf79 80217 broad.mit.edu 37 10 105944862 105944862 + Missense_Mutation SNP C C G TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr10:105944862C>G uc001kxw.2 - 16 2169 c.2053G>C c.(2053-2055)GGG>CGG p.G685R C10orf79_uc009xxq.2_5'UTR|C10orf79_uc001kxx.3_Missense_Mutation_p.G686R NM_025145 NP_079421 Q8NDM7 WDR96_HUMAN hypothetical protein LOC80217 685 WD 9. 0 Colorectal(252;0.178) Epithelial(162;4.83e-10)|all cancers(201;2.26e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0194) GACTGAATCCCATGACCCTGG 0.403 NA 3 51 0 0 0.004672 0 0 ATRNL1 26033 broad.mit.edu 37 10 117228685 117228685 + Missense_Mutation SNP G G T TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr10:117228685G>T uc001lcg.2 + 24 3886 c.3500G>T c.(3499-3501)GGA>GTA p.G1167V ATRNL1_uc010qsm.1_Missense_Mutation_p.G296V|ATRNL1_uc010qsn.1_Intron NM_207303 NP_997186 Q5VV63 ATRN1_HUMAN attractin-like 1 precursor 1167 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) ATTTTAGCTGGAACAATATCT 0.169 NA 7 10 2.0095e-06 2.71193e-06 0.001984 1 0 EMX2 2018 broad.mit.edu 37 10 119303110 119303110 + Missense_Mutation SNP C C T TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr10:119303110C>T uc001ldh.3 + 1 1155 c.332C>T c.(331-333)TCG>TTG p.S111L EMX2OS_uc001ldf.2_5'Flank|EMX2OS_uc001ldg.2_Intron|EMX2_uc001ldi.3_Missense_Mutation_p.S111L NM_004098 NP_004089 Q04743 EMX2_HUMAN empty spiracles homeobox 2 isoform 1 111 nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 Colorectal(252;0.109)|Lung NSC(174;0.179)|all_lung(145;0.22) all cancers(201;0.0133) CTATTCGCCTCGCAGCAGCGG 0.697 NA 21 70 0 0 0.001882 0 0 HBBP1 3044 broad.mit.edu 37 11 5264337 5264337 + Missense_Mutation SNP A A C TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr11:5264337A>C uc001mag.2 - 2 365 c.149T>G c.(148-150)CTG>CGG p.L50R NR_001589 Homo sapiens hemoglobin, beta pseudogene 1 (HBBP1), non-coding RNA. 0 ACTACTCACCAGGAAGTTCTC 0.458 NA 4 14 0 0 0.000248 0 0 OR51I2 390064 broad.mit.edu 37 11 5474928 5474928 + Missense_Mutation SNP T T A TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr11:5474928T>A uc010qzf.1 + 1 210 c.210T>A c.(208-210)GAT>GAA p.D70E 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, 70 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) CCTTCAGTGATGTGGCCATAT 0.522 NA 20 52 0 0 0.008871 0 0 OR52N1 79473 broad.mit.edu 37 11 5809749 5809749 + Missense_Mutation SNP G G T TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr11:5809749G>T uc010qzo.1 - 1 298 c.298C>A c.(298-300)CTC>ATC p.L100I TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.1_Intron NM_001001913 NP_001001913 Q8NH53 O52N1_HUMAN olfactory receptor, family 52, subfamily N, 100 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195) ATCTGGGCGAGGCAGGCTTTA 0.517 NA 19 43 8.28177e-16 1.39555e-15 0.007413 1 0 OR52L1 338751 broad.mit.edu 37 11 6007176 6007177 + Missense_Mutation DNP CC CC AA TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 CC CC - - CC CC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr11:6007176_6007177CC>AA uc001mcd.2 - 1 1039_1040 c.984_985GG>TT c.(982-987)AAGGAT>AATTAT p.328_329KD>NY NM_001005173 NP_001005173 Q8NGH7 O52L1_HUMAN olfactory receptor, family 52, subfamily L, 328_329 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|pancreas(1) 2 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;1.98e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135) TCAGATCAATCCTTTTGTGTAA 0.485 Melanoma(121;653 1666 10547 22796 51255) NA 4 6 0 0 0.004672 0 0 CCKBR 887 broad.mit.edu 37 11 6291107 6291107 + Silent SNP C C T TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr11:6291107C>T uc001mcp.2 + 2 553 c.360C>T c.(358-360)TTC>TTT p.F120F CCKBR_uc001mcq.2_Silent_p.F48F|CCKBR_uc001mcr.2_Silent_p.F120F|CCKBR_uc001mcs.2_Silent_p.F120F NM_176875 NP_795344 P32239 GASR_HUMAN cholecystokinin B receptor 120 Extracellular (Potential). activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cell proliferation|digestion|elevation of cytosolic calcium ion concentration|feeding behavior|positive regulation of cell proliferation|sensory perception 1-phosphatidylinositol-3-kinase regulator activity|gastrin receptor activity|phosphatidylinositol phospholipase C activity|type B gastrin/cholecystokinin receptor binding lung(5)|ovary(2)|breast(1) 8 Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029) Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139) Pentagastrin(DB00183) TGGGCACATTCATCTTTGGCA 0.587 NA 8 31 0 0 0.00308 0 0 SYT9 143425 broad.mit.edu 37 11 7441778 7441778 + Missense_Mutation SNP A A T TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr11:7441778A>T uc001mfe.2 + 6 1616 c.1379A>T c.(1378-1380)AAC>ATC p.N460I SYT9_uc001mfd.2_RNA|SYT9_uc009yfi.2_RNA NM_175733 NP_783860 Q86SS6 SYT9_HUMAN synaptotagmin IX 460 Cytoplasmic (Potential). cell junction|integral to membrane|synaptic vesicle membrane metal ion binding|transporter activity ovary(2)|large_intestine(1) 3 Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949) CAAGTAGGCAACGAGGCTGAG 0.463 NA 8 15 0 0 0.00308 0 0 OVCH2 341277 broad.mit.edu 37 11 7723352 7723352 + Missense_Mutation SNP A A T TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr11:7723352A>T uc010rbf.1 - 5 470 c.470T>A c.(469-471)TTT>TAT p.F157Y NM_198185 NP_937828 ovochymase 2 precursor 0 Epithelial(150;7.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.197) GGGCCCCACAAAGTGGCCTGA 0.502 NA 6 7 0 0 0.001984 0 0 WT1 7490 broad.mit.edu 37 11 32413517 32413517 + Splice_Site SNP C C T TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr11:32413517C>T uc001mtn.1 - 9 1628 c.1432_splice c.e9+1 p.S478_splice WT1_uc001mtl.1_Intron|WT1_uc001mtm.1_Splice_Site_p.S249_splice|WT1_uc001mto.1_Intron|WT1_uc001mtp.1_Splice_Site_p.S461_splice|WT1_uc001mtq.1_Intron|WT1_uc009yjs.1_Splice_Site NM_024426 NP_077744 P19544 WT1_HUMAN Wilms tumor 1 isoform D adrenal cortex formation|branching involved in ureteric bud morphogenesis|camera-type eye development|cardiac muscle cell fate commitment|cellular response to cAMP|cellular response to gonadotropin stimulus|germ cell development|glomerular basement membrane development|glomerular visceral epithelial cell differentiation|induction of apoptosis|male genitalia development|male gonad development|mesenchymal to epithelial transition|metanephric epithelium development|metanephric S-shaped body morphogenesis|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of female gonad development|negative regulation of metanephric glomerular mesangial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of translation|positive regulation of male gonad development|positive regulation of transcription, DNA-dependent|posterior mesonephric tubule development|regulation of organ formation|RNA splicing|sex determination|vasculogenesis|visceral serous pericardium development cytoplasm|nuclear speck|nucleoplasm C2H2 zinc finger domain binding|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding EWSR1/WT1(231) haematopoietic_and_lymphoid_tissue(318)|soft_tissue(231)|kidney(132)|pleura(2)|lung(2)|upper_aerodigestive_tract(1)|peritoneum(1) 687 Breast(20;0.247) OV - Ovarian serous cystadenocarcinoma(30;0.128) AGTTTACGCACTTGTTTTACC 0.378 NA D|Mis|N|F|S EWSR1 Wilms|desmoplastic small round cell tumor Wilms Denys-Drash_syndrome|Frasier_syndrome|Familial_Wilms_tumor|Wilms_tumor-Aniridia-ambiguous_Genitals-mental_Retardation 30 88 0 0 0.003755 0 0 OR4X1 390113 broad.mit.edu 37 11 48285577 48285577 + Silent SNP C C T TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr11:48285577C>T uc010rht.1 + 1 165 c.165C>T c.(163-165)TCC>TCT p.S55S NM_001004726 NP_001004726 Q8NH49 OR4X1_HUMAN olfactory receptor, family 4, subfamily X, 55 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|pancreas(1)|skin(1) 3 TGCTCACCTCCCCCATGTATT 0.478 NA 16 27 0 0 0.006122 0 0 OR4X1 390113 broad.mit.edu 37 11 48286115 48286115 + Missense_Mutation SNP C C A TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr11:48286115C>A uc010rht.1 + 1 703 c.703C>A c.(703-705)CTC>ATC p.L235I NM_001004726 NP_001004726 Q8NH49 OR4X1_HUMAN olfactory receptor, family 4, subfamily X, 235 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|pancreas(1)|skin(1) 3 GCACAAGGCCCTCTCCACCTG 0.537 NA 23 49 1.9806e-07 2.72109e-07 0.002299 1 0 FOLH1 2346 broad.mit.edu 37 11 49208288 49208288 + Nonsense_Mutation SNP C C A TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr11:49208288C>A uc001ngy.2 - 5 808 c.547G>T c.(547-549)GAA>TAA p.E183* FOLH1_uc001ngz.2_Nonsense_Mutation_p.E183*|FOLH1_uc009yly.2_Nonsense_Mutation_p.E168*|FOLH1_uc009ylz.2_Nonsense_Mutation_p.E168*|FOLH1_uc009yma.2_5'UTR NM_004476 NP_004467 Q04609 FOLH1_HUMAN folate hydrolase 1 isoform 1 183 Extracellular (Probable). proteolysis cytoplasm|integral to plasma membrane|membrane fraction|nucleus carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity large_intestine(1)|ovary(1)|skin(1) 3 Capromab(DB00089)|L-Glutamic Acid(DB00142) AAGAAGTCTTCAGTTCGTGCA 0.383 NA 9 47 0.00448238 0.00551261 0.004482 1 0 OR4C13 283092 broad.mit.edu 37 11 49974135 49974135 + Missense_Mutation SNP G G T TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr11:49974135G>T uc010rhz.1 + 1 161 c.161G>T c.(160-162)AGA>ATA p.R54I NM_001001955 NP_001001955 Q8NGP0 OR4CD_HUMAN olfactory receptor, family 4, subfamily C, 54 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(3)|ovary(1) 4 CCATCACTGAGATCCCCCATG 0.428 NA 52 104 3.76997e-23 7.09778e-23 0.00361 1 0 OR4C6 219432 broad.mit.edu 37 11 55433305 55433305 + Nonsense_Mutation SNP C C A TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr11:55433305C>A uc001nht.3 + 3 928 c.663C>A c.(661-663)TGC>TGA p.C221* OR4C6_uc010rik.1_Nonsense_Mutation_p.C221* NM_001004704 NP_001004704 Q8NH72 OR4C6_HUMAN olfactory receptor, family 4, subfamily C, 221 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 TCATCCTATGCTCCCTGAAGT 0.507 NA 29 53 1.75199e-13 2.84232e-13 0.007291 1 0 CHKA 1119 broad.mit.edu 37 11 67864558 67864558 + Silent SNP A A T TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr11:67864558A>T uc001onj.2 - 2 604 c.390T>A c.(388-390)CCT>CCA p.P130P CHKA_uc001onk.2_Silent_p.P130P NM_001277 NP_001268 P35790 CHKA_HUMAN choline kinase alpha isoform a 130 lipid transport|phosphatidylethanolamine biosynthetic process cytoplasm ATP binding|choline kinase activity|drug binding|ethanolamine kinase activity|signal transducer activity ovary(1)|central_nervous_system(1) 2 Choline(DB00122) CTGTGGTGTCAGGTAGGGAGC 0.512 NA 16 30 0 0 0.006122 0 0 ANO1 55107 broad.mit.edu 37 11 69972201 69972201 + Missense_Mutation SNP G G C TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr11:69972201G>C uc001opj.2 + 10 1302 c.997G>C c.(997-999)GCC>CCC p.A333P ANO1_uc001opk.1_Missense_Mutation_p.A305P|ANO1_uc001opl.1_RNA|ANO1_uc010rqk.1_Missense_Mutation_p.A68P NM_018043 NP_060513 Q5XXA6 ANO1_HUMAN anoctamin 1, calcium activated chloride channel 333 Cytoplasmic (Potential). multicellular organismal development chloride channel complex|cytoplasm|plasma membrane intracellular calcium activated chloride channel activity ovary(1)|pancreas(1) 2 CCTGTACTTCGCCTGGCTGGG 0.537 NA 20 39 0 0 0.002299 0 0 SLCO2B1 11309 broad.mit.edu 37 11 74880349 74880349 + Missense_Mutation SNP G G A TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr11:74880349G>A uc001owb.2 + 5 967 c.580G>A c.(580-582)GTG>ATG p.V194M SLCO2B1_uc010rrq.1_Intron|SLCO2B1_uc010rrr.1_Missense_Mutation_p.V50M|SLCO2B1_uc010rrs.1_Missense_Mutation_p.V78M|SLCO2B1_uc001owc.2_Intron|SLCO2B1_uc001owd.2_Missense_Mutation_p.V172M NM_007256 NP_009187 O94956 SO2B1_HUMAN solute carrier organic anion transporter family, 194 Helical; Name=4; (Potential). sodium-independent organic anion transport integral to membrane sodium-independent organic anion transmembrane transporter activity ovary(1)|breast(1) 2 Ergoloid mesylate(DB01049) GATCATGTTCGTGGCACAGAC 0.612 NA 17 36 0 0 0.004007 0 0 PANX1 24145 broad.mit.edu 37 11 93913424 93913424 + Splice_Site SNP G G T TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr11:93913424G>T uc001per.2 + 4 1586 c.1201_splice c.e4+1 p.G401_splice PANX1_uc001peq.2_Splice_Site_p.D401_splice NM_015368 NP_056183 Q96RD7 PANX1_HUMAN pannexin 1 positive regulation of interleukin-1 beta secretion|protein hexamerization|synaptic transmission bleb|endoplasmic reticulum membrane|gap junction|integral to membrane calcium channel activity|gap junction hemi-channel activity|leak channel activity|receptor binding 0 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) GAGCTCCAAGGTAGGGTTTGC 0.507 NA 3 20 0.00024832 0.000318225 0.000248 1 0 OR8D2 283160 broad.mit.edu 37 11 124189303 124189303 + Missense_Mutation SNP G G T TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr11:124189303G>T uc010sah.1 - 1 791 c.791C>A c.(790-792)TCC>TAC p.S264Y NM_001002918 NP_001002918 Q9GZM6 OR8D2_HUMAN olfactory receptor, family 8, subfamily D, 264 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|pancreas(1) 3 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0525) AGTAGTGCTGGAAGGGGGCTT 0.448 NA 35 72 1.04594e-18 1.8334e-18 0.00623 1 0 VWF 7450 broad.mit.edu 37 12 6127901 6127901 + Silent SNP G G T TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr12:6127901G>T uc001qnn.1 - 28 4933 c.4683C>A c.(4681-4683)ATC>ATA p.I1561I VWF_uc010set.1_Intron NM_000552 NP_000543 P04275 VWF_HUMAN von Willebrand factor preproprotein 1561 VWFA 2. blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1) 12 Antihemophilic Factor(DB00025) CCCGCTGCAGGATGTCCCCTT 0.468 NA 17 10 4.96729e-08 6.98167e-08 0.008871 1 0 RPL13AP20 387841 broad.mit.edu 37 12 13028751 13028751 + Missense_Mutation SNP G G C TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr12:13028751G>C uc010sho.1 + 1 341 c.319G>C c.(319-321)GGC>CGC p.G107R NR_003932 SubName: Full=Ribosomal protein L13a variant; Flags: Fragment; 0 GGTGTTTGACGGCATCCCACC 0.612 NA 3 9 0 0 0.004672 0 0 KRAS 3845 broad.mit.edu 37 12 25398284 25398285 + Missense_Mutation DNP CC CC TA rs121913529 TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 CC CC - - CC CC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr12:25398284_25398285CC>TA uc001rgp.1 - 2 215_216 c.34_35GG>TA c.(34-36)GGT>TAT p.G12Y KRAS_uc001rgq.1_Missense_Mutation_p.G12Y|KRAS_uc001rgr.2_RNA NM_033360 NP_203524 P01116 RASK_HUMAN c-K-ras2 protein isoform a precursor 12 GTP. G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction plasma membrane GTP binding|GTPase activity|protein binding p.G12D(7175)|p.G12V(4780)|p.G12C(2482)|p.G12A(1180)|p.G12S(1119)|p.G12R(691)|p.G12?(50)|p.G12F(34)|p.G12N(6)|p.G12G(6)|p.G12L(5)|p.G12I(4)|p.G12_G13insG(4)|p.G12E(3)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12fs*3(1) large_intestine(12391)|pancreas(3285)|lung(2847)|biliary_tract(521)|ovary(443)|endometrium(339)|haematopoietic_and_lymphoid_tissue(318)|stomach(203)|thyroid(149)|prostate(85)|soft_tissue(77)|small_intestine(62)|upper_aerodigestive_tract(59)|cervix(49)|urinary_tract(48)|skin(38)|liver(31)|breast(28)|testis(17)|oesophagus(15)|central_nervous_system(9)|peritoneum(6)|salivary_gland(6)|kidney(5)|gastrointestinal_tract_(site_indeterminate)(5)|thymus(5)|eye(4)|autonomic_ganglia(2)|bone(2)|genital_tract(1)|penis(1)|adrenal_gland(1) 21052 all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12) OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05) GCCTACGCCACCAGCTCCAACT 0.347 Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869) G12C(CALU1_LUNG)|G12V(PATU8988S_PANCREAS)|G12C(NCIH1792_LUNG)|G12D(SU8686_PANCREAS)|G12D(PK1_PANCREAS)|G12V(KP3_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12V(NCIH727_LUNG)|G12D(LS513_LARGE_INTESTINE)|G12D(PANC0203_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12D(PANC0504_PANCREAS)|G12V(SNGM_ENDOMETRIUM)|G12C(HCC44_LUNG)|G12C(NCIH23_LUNG)|G12C(LU65_LUNG)|G12V(CORL23_LUNG)|G12D(SW1990_PANCREAS)|G12D(HEC50B_ENDOMETRIUM)|G12V(NCIH2444_LUNG)|G12D(MCAS_OVARY)|G12D(ASPC1_PANCREAS)|G12V(SHP77_LUNG)|G12R(CAL62_THYROID)|G12D(HPAFII_PANCREAS)|G12A(NCIH2009_LUNG)|G12D(PANC0403_PANCREAS)|G12C(NCIH2030_LUNG)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12V(PANC0327_PANCREAS)|G12D(PANC0813_PANCREAS)|G12V(COLO668_LUNG)|G12V(NCIH441_LUNG)|G12V(CFPAC1_PANCREAS)|G12V(SW900_LUNG)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12V(CAPAN2_PANCREAS)|G12R(HUPT3_PANCREAS)|G12D(HEC1A_ENDOMETRIUM)|G12V(YAPC_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12R(HS274T_BREAST)|G12V(SW480_LARGE_INTESTINE)|G12V(QGP1_PANCREAS)|G12S(LS123_LARGE_INTESTINE)|G12C(SW837_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(RKN_OVARY)|G12C(IALM_LUNG)|G12C(UMUC3_URINARY_TRACT)|G12V(RERFLCAD2_LUNG)|G12C(LU99_LUNG)|G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12V(SH10TC_STOMACH)|G12R(PSN1_PANCREAS)|G12C(KYSE410_OESOPHAGUS)|G12D(COLO678_LARGE_INTESTINE)|G12S(A549_LUNG)|G12V(SW620_LARGE_INTESTINE)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(RERFLCAD1_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(HEYA8_OVARY)|G12A(NCIH1573_LUNG)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(NCIH1373_LUNG)|G12V(HCC56_LARGE_INTESTINE)|G12C(MIAPACA2_PANCREAS)|G12V(DANG_PANCREAS)|G12D(L33_PANCREAS)|G12C(OV56_OVARY)|G12V(PATU8902_PANCREAS)|G12D(HPAC_PANCREAS)|G12V(SW403_LARGE_INTESTINE)|G12R(KP2_PANCREAS)|G12D(SUIT2_PANCREAS)|G12C(NCIH2122_LUNG)|G12D(KP4_PANCREAS)|G12C(NCIH358_LUNG)|G12V(A498_KIDNEY)|G12D(PK59_PANCREAS)|G12C(SW1463_LARGE_INTESTINE)|G12V(RCM1_LARGE_INTESTINE)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(SKLU1_LUNG)|G12D(PANC1_PANCREAS)|G12C(SW1573_LUNG) 119 Mis pancreatic|colorectal|lung|thyroid|AML|others Cardiofaciocutaneous_syndrome|Noonan_syndrome TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6) 14 9 0 0 0.004672 0 0 PDZRN4 29951 broad.mit.edu 37 12 41967321 41967321 + Missense_Mutation SNP C C A TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr12:41967321C>A uc010skn.1 + 10 2211 c.2143C>A c.(2143-2145)CGT>AGT p.R715S PDZRN4_uc001rmq.3_Missense_Mutation_p.R656S|PDZRN4_uc009zjz.2_Missense_Mutation_p.R654S|PDZRN4_uc001rmr.2_Missense_Mutation_p.R541S NM_013377 NP_037509 Q6ZMN7 PZRN4_HUMAN PDZ domain containing RING finger 4 isoform 2 914 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) CCTGAAGGAACGTGCCTTAAA 0.512 NA 24 48 3.08376e-08 4.41572e-08 0.00333 1 0 TMTC3 160418 broad.mit.edu 37 12 88548080 88548081 + Missense_Mutation DNP GG GG TT TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 GG GG - - GG GG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr12:88548080_88548081GG>TT uc001tau.2 + 4 644_645 c.424_425GG>TT c.(424-426)GGA>TTA p.G142L TMTC3_uc009zsm.2_RNA NM_181783 NP_861448 Q6ZXV5 TMTC3_HUMAN transmembrane and tetratricopeptide repeat 142 Helical; (Potential). integral to membrane binding skin(1) 1 AGGAGTTGTTGGAAGAGCAGAA 0.297 NA 16 21 0 0 0.004672 0 0 C12orf63 374467 broad.mit.edu 37 12 97043823 97043823 + Missense_Mutation SNP A A T TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr12:97043823A>T uc001tet.1 + 2 198 c.120A>T c.(118-120)AAA>AAT p.K40N NM_198520 NP_940922 Q6ZTY8 CL063_HUMAN hypothetical protein LOC374467 40 skin(6)|ovary(1) 7 ATTTTATGAAAATCTTTTTAT 0.284 NA 15 26 0 0 0.00245 0 0 STAB2 55576 broad.mit.edu 37 12 104033930 104033930 + Missense_Mutation SNP G G C TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr12:104033930G>C uc001tjw.2 + 9 1122 c.936G>C c.(934-936)CAG>CAC p.Q312H NM_017564 NP_060034 Q8WWQ8 STAB2_HUMAN stabilin 2 precursor 312 Extracellular (Potential). angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis cytoplasm|external side of plasma membrane|integral to plasma membrane Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity ovary(9)|skin(5) 14 AGCATTACCAGAATTTCGTAC 0.433 NA 31 52 0 0 0.002096 0 0 STAB2 55576 broad.mit.edu 37 12 104054150 104054150 + Silent SNP C C A TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr12:104054150C>A uc001tjw.2 + 16 1962 c.1776C>A c.(1774-1776)GTC>GTA p.V592V NM_017564 NP_060034 Q8WWQ8 STAB2_HUMAN stabilin 2 precursor 592 Extracellular (Potential).|FAS1 2. angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis cytoplasm|external side of plasma membrane|integral to plasma membrane Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity ovary(9)|skin(5) 14 ACCACATTGTCCCATTTACCC 0.423 NA 76 171 4.78148e-37 9.59443e-37 0.00361 1 0 BTBD11 121551 broad.mit.edu 37 12 107937911 107937911 + Silent SNP G G C TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr12:107937911G>C uc001tmk.1 + 3 2006 c.1485G>C c.(1483-1485)GTG>GTC p.V495V BTBD11_uc009zut.1_Silent_p.V495V|BTBD11_uc001tmj.2_Silent_p.V495V NM_001018072 NP_001018082 A6QL63 BTBDB_HUMAN BTB (POZ) domain containing 11 isoform a 495 integral to membrane DNA binding skin(2)|ovary(1) 3 ACCTCCAGGTGGAAAGGTAAG 0.567 NA 13 20 0 0 0.001855 0 0 RPL6 6128 broad.mit.edu 37 12 112843710 112843710 + Missense_Mutation SNP T T G rs148929822 byFrequency TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr12:112843710T>G uc001ttu.2 - 6 890 c.661A>C c.(661-663)AAG>CAG p.K221Q RPL6_uc001ttv.2_Missense_Mutation_p.K221Q NM_001024662 NP_001019833 Q02878 RL6_HUMAN ribosomal protein L6 221 endocrine pancreas development|regulation of transcription, DNA-dependent|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit DNA binding|RNA binding|structural constituent of ribosome large_intestine(1) 1 TTCCGCAGCTTCTTCTTCTTG 0.423 NA 14 37 0 0 0.00245 0 0 TBX5 6910 broad.mit.edu 37 12 114793477 114793477 + Missense_Mutation SNP G G T TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr12:114793477G>T uc001tvo.2 - 9 1912 c.1417C>A c.(1417-1419)CAG>AAG p.Q473K TBX5_uc001tvp.2_Missense_Mutation_p.Q473K|TBX5_uc001tvq.2_Missense_Mutation_p.Q423K NM_181486 NP_852259 Q99593 TBX5_HUMAN T-box 5 isoform 1 473 cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development cytoplasm|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding ovary(6)|pancreas(1)|skin(1) 8 Medulloblastoma(191;0.163)|all_neural(191;0.178) BRCA - Breast invasive adenocarcinoma(302;0.0893) AGGCCAGTCTGAGGCCCACAC 0.627 NSCLC(152;1358 1980 4050 23898 40356) NA 12 41 1.61879e-10 2.49359e-10 0.001368 1 0 CCDC62 84660 broad.mit.edu 37 12 123270367 123270367 + Missense_Mutation SNP G G T TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr12:123270367G>T uc001udc.2 + 4 643 c.498G>T c.(496-498)AAG>AAT p.K166N CCDC62_uc010tah.1_RNA|CCDC62_uc001udf.2_Missense_Mutation_p.K166N|CCDC62_uc001ude.2_Intron NM_201435 NP_958843 Q6P9F0 CCD62_HUMAN coiled-coil domain containing 62 isoform b 166 cytoplasm|nucleus ovary(2)|large_intestine(1)|pancreas(1)|skin(1) 5 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;6.51e-06)|Epithelial(86;2.65e-05)|BRCA - Breast invasive adenocarcinoma(302;0.206) TAAAGCTAAAGGTAATCAAAA 0.408 NA 25 47 7.87624e-14 1.28463e-13 0.00278 1 0 FZD10 11211 broad.mit.edu 37 12 130649097 130649097 + Missense_Mutation SNP G G T rs138051070 TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr12:130649097G>T uc001uii.2 + 1 2066 c.1610G>T c.(1609-1611)CGT>CTT p.R537L uc001uig.1_5'Flank|uc001uih.1_5'Flank NM_007197 NP_009128 Q9ULW2 FZD10_HUMAN frizzled 10 precursor 537 Cytoplasmic (Potential). brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|gonad development|negative regulation of Rho GTPase activity|neuron differentiation|non-canonical Wnt receptor signaling pathway|positive regulation of JUN kinase activity|positive regulation of Rac GTPase activity|regulation of actin cytoskeleton organization|vasculature development cell projection|cell surface|cytoplasm|integral to plasma membrane G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding lung(3)|breast(1)|central_nervous_system(1) 5 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05) GTGTGCAGCCGTAGGTTAAAG 0.537 NA 15 31 4.93089e-13 7.95726e-13 0.00245 1 0 SACS 26278 broad.mit.edu 37 13 23914963 23914963 + Missense_Mutation SNP C C G TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr13:23914963C>G uc001uon.2 - 10 3641 c.3052G>C c.(3052-3054)GAG>CAG p.E1018Q SACS_uc001uoo.2_Missense_Mutation_p.E871Q|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron NM_014363 NP_055178 Q9NZJ4 SACS_HUMAN sacsin 1018 cell death|negative regulation of inclusion body assembly|protein folding axon|cell body fiber|dendrite|mitochondrion|nucleus ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1) 12 all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128) all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189) GATAGATTCTCAAGGACCCAT 0.348 NA 3 70 0 0 0.000248 0 0 FOXO1 2308 broad.mit.edu 37 13 41134854 41134854 + Silent SNP G G A TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr13:41134854G>A uc001uxl.3 - 2 1159 c.774C>T c.(772-774)GAC>GAT p.D258D FOXO1_uc010acc.1_Silent_p.D73D NM_002015 NP_002006 Q12778 FOXO1_HUMAN forkhead box O1 258 anti-apoptosis|blood vessel development|embryo development|endocrine pancreas development|insulin receptor signaling pathway|negative regulation of stress-activated MAPK cascade|nerve growth factor receptor signaling pathway|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of transcription from RNA polymerase II promoter|regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|response to DNA damage stimulus|tissue development cytosol|transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase 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 PAX3/FOXO1(749)|PAX7/FOXO1(197) soft_tissue(946)|lung(1)|central_nervous_system(1) 948 Lung NSC(96;1.18e-05)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194) all cancers(112;7.32e-09)|Epithelial(112;2.87e-06)|OV - Ovarian serous cystadenocarcinoma(117;6.98e-05)|GBM - Glioblastoma multiforme(144;0.00394)|BRCA - Breast invasive adenocarcinoma(63;0.0815) TACTGTTGTTGTCCATGGATG 0.522 NA 48 27 0 0 0.00361 0 0 STXBP6 29091 broad.mit.edu 37 14 25326295 25326295 + Missense_Mutation SNP C C A TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr14:25326295C>A uc001wpu.2 - 3 938 c.223G>T c.(223-225)GTT>TTT p.V75F STXBP6_uc001wpv.2_Missense_Mutation_p.V75F|STXBP6_uc001wpw.2_Missense_Mutation_p.V75F|STXBP6_uc001wpx.1_RNA NM_014178 NP_054897 Q8NFX7 STXB6_HUMAN amisyn 75 vesicle-mediated transport cytoplasm|integral to membrane 0 GBM - Glioblastoma multiforme(265;0.0296) GATCTCCGAACAAATGATGTG 0.463 NA 45 78 9.84934e-19 1.73644e-18 0.002522 1 0 SLC8A3 6547 broad.mit.edu 37 14 70633417 70633417 + Missense_Mutation SNP C C A TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr14:70633417C>A uc001xly.2 - 2 2477 c.1723G>T c.(1723-1725)GGT>TGT p.G575C SLC8A3_uc001xlw.2_Missense_Mutation_p.G575C|SLC8A3_uc001xlx.2_Missense_Mutation_p.G575C|SLC8A3_uc001xlz.2_Missense_Mutation_p.G575C|SLC8A3_uc010ara.2_RNA NM_183002 NP_892114 P57103 NAC3_HUMAN solute carrier family 8 (sodium/calcium 575 Calx-beta 2.|Cytoplasmic (Potential). cell communication|platelet activation integral to membrane|plasma membrane calcium:sodium antiporter activity|calmodulin binding skin(3)|ovary(2)|breast(2) 7 BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555) TCACCGCCACCCTTGGCTGTC 0.512 NA 28 48 4.59853e-10 6.94332e-10 0.005443 1 0 TTC8 123016 broad.mit.edu 37 14 89341421 89341421 + Missense_Mutation SNP C C T TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr14:89341421C>T uc010ath.2 + 14 1581 c.1447C>T c.(1447-1449)CCG>TCG p.P483S TTC8_uc001xxl.2_Missense_Mutation_p.P228S|TTC8_uc010ati.2_Missense_Mutation_p.P269S|TTC8_uc001xxm.2_Intron|TTC8_uc010atj.2_Missense_Mutation_p.P202S|TTC8_uc001xxi.2_Missense_Mutation_p.P467S|TTC8_uc001xxj.2_Missense_Mutation_p.P457S|TTC8_uc001xxk.2_Missense_Mutation_p.P427S NM_198309 NP_938051 Q8TAM2 TTC8_HUMAN tetratricopeptide repeat domain 8 isoform B 493 cilium assembly|establishment of anatomical structure orientation|sensory processing BBSome|centrosome|cilium membrane|microtubule basal body protein binding 0 TATGTATGAACCGCATTTTAA 0.299 NA Bardet-Biedl_syndrome 21 37 0 0 0.002299 0 0 SLC24A4 123041 broad.mit.edu 37 14 92909770 92909770 + Silent SNP G G T TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr14:92909770G>T uc001yak.2 + 7 582 c.558G>T c.(556-558)GTG>GTT p.V186V SLC24A4_uc001yai.2_Silent_p.V139V|SLC24A4_uc010twm.1_Silent_p.V203V|SLC24A4_uc001yaj.2_Silent_p.V186V|SLC24A4_uc010auj.2_Silent_p.V94V|SLC24A4_uc010twn.1_5'UTR NM_153646 NP_705932 Q8NFF2 NCKX4_HUMAN solute carrier family 24 member 4 isoform 1 203 Helical; (Potential). integral to membrane|plasma membrane calcium, potassium:sodium antiporter activity|symporter activity breast(2)|ovary(1) 3 all_cancers(154;0.0347)|all_epithelial(191;0.163) Colorectal(1;0.00242)|COAD - Colon adenocarcinoma(157;0.047)|Epithelial(152;0.0781)|READ - Rectum adenocarcinoma(1;0.176)|all cancers(159;0.182) GGTGGGCCGTGTGCCGAGACT 0.657 NSCLC(10;315 435 10383 28450 38798) NA 29 40 1.88708e-17 3.25175e-17 0.008361 1 0 PGBD4 161779 broad.mit.edu 37 15 34395533 34395533 + Silent SNP G G A TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr15:34395533G>A uc001zho.2 + 1 1260 c.801G>A c.(799-801)CCG>CCA p.P267P C15orf24_uc001zhm.2_5'Flank|C15orf24_uc001zhn.2_5'Flank NM_152595 NP_689808 Q96DM1 PGBD4_HUMAN piggyBac transposable element derived 4 267 0 all_lung(180;1.76e-08) all cancers(64;1.22e-17)|GBM - Glioblastoma multiforme(113;1.78e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0242) AGTACCTCCCGACAAAACGAG 0.413 NA 9 16 0 0 0.004482 0 0 DISP2 85455 broad.mit.edu 37 15 40655997 40655997 + Silent SNP G G A TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr15:40655997G>A uc001zlk.1 + 2 380 c.291G>A c.(289-291)CGG>CGA p.R97R NM_033510 NP_277045 A7MBM2 DISP2_HUMAN dispatched B 97 smoothened signaling pathway integral to membrane ovary(2) 2 all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247) CCTATCCCCGGGCACTGCAGG 0.657 NA 24 34 0 0 0.00278 0 0 Unknown 0 broad.mit.edu 37 15 85787980 85787980 + Missense_Mutation SNP T T G TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr15:85787980T>G uc010upj.1 + 6 788 c.723T>G c.(721-723)CAT>CAG p.H241Q uc010upk.1_5'Flank NM_198181 NP_937824 golgi autoantigen, golgin subfamily a, 6D-like NA TACGTGAACATGAGGAGAGGC 0.562 NA 2 2 0 0 0.004672 0 0 OR4F6 390648 broad.mit.edu 37 15 102346553 102346553 + Missense_Mutation SNP T T C TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr15:102346553T>C uc010utr.1 + 1 631 c.631T>C c.(631-633)TTT>CTT p.F211L NM_001005326 NP_001005326 Q8NGB9 OR4F6_HUMAN olfactory receptor, family 4, subfamily F, 211 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505) OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187) TCTGGCTTCTTTTTTAATTCT 0.363 NA 40 31 0 0 0.005524 0 0 ADCY9 115 broad.mit.edu 37 16 4164490 4164490 + Missense_Mutation SNP C C A TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr16:4164490C>A uc002cvx.2 - 2 1493 c.954G>T c.(952-954)ATG>ATT p.M318I NM_001116 NP_001107 O60503 ADCY9_HUMAN adenylate cyclase 9 318 Cytoplasmic (Potential). activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to 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 integral to plasma membrane adenylate cyclase activity|ATP binding|metal ion binding ovary(4)|large_intestine(1)|central_nervous_system(1) 6 CCTTCCCGTGCATAATGGATT 0.547 NA 37 40 5.43694e-19 9.64108e-19 0.005524 1 0 USP31 57478 broad.mit.edu 37 16 23080722 23080722 + Missense_Mutation SNP C C A TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr16:23080722C>A uc002dll.2 - 16 2704 c.2704G>T c.(2704-2706)GCA>TCA p.A902S USP31_uc002dlk.2_Missense_Mutation_p.A174S|USP31_uc010vca.1_Missense_Mutation_p.A205S|USP31_uc010bxm.2_Missense_Mutation_p.A190S NM_020718 NP_065769 Q70CQ4 UBP31_HUMAN ubiquitin specific peptidase 31 902 Ser-rich. ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity ovary(3)|lung(3)|breast(2)|pancreas(1)|skin(1) 10 GBM - Glioblastoma multiforme(48;0.0187) TCATCTGCTGCCTCCCCAATC 0.522 NA 12 24 1.08611e-07 1.50574e-07 0.000978 1 0 KIAA0556 23247 broad.mit.edu 37 16 27789020 27789020 + Silent SNP C C T TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr16:27789020C>T uc002dow.2 + 26 4665 c.4641C>T c.(4639-4641)ACC>ACT p.T1547T KIAA0556_uc010vco.1_Silent_p.T49T NM_015202 NP_056017 O60303 K0556_HUMAN hypothetical protein LOC23247 1547 ovary(4)|large_intestine(2)|upper_aerodigestive_tract(1)|skin(1) 8 GTGAGCCCACCGTGCCCTACC 0.642 NA 8 72 0 0 0.006214 0 0 SLC6A10P 386757 broad.mit.edu 37 16 32890646 32890646 + Silent SNP C C A TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr16:32890646C>A uc002edh.1 - 5 416 c.240G>T c.(238-240)GTG>GTT p.V80V SLC6A10P_uc002edi.1_RNA RecName: Full=Transporter; 0 GCTTGTAGTACACAACGTTGA 0.433 NA 12 23 2.27111e-07 3.09236e-07 0.001368 1 0 NDRG4 65009 broad.mit.edu 37 16 58537784 58537784 + Missense_Mutation SNP C C A TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr16:58537784C>A uc002eno.2 + 2 210 c.104C>A c.(103-105)ACC>AAC p.T35N NDRG4_uc002enk.2_Missense_Mutation_p.T67N|NDRG4_uc002enm.2_Missense_Mutation_p.T87N|NDRG4_uc010vif.1_Missense_Mutation_p.T67N|NDRG4_uc010cdk.2_Missense_Mutation_p.T35N|NDRG4_uc010vig.1_Missense_Mutation_p.T65N|NDRG4_uc010vih.1_5'UTR|NDRG4_uc010vii.1_Missense_Mutation_p.T53N|NDRG4_uc002enp.2_Missense_Mutation_p.T35N|NDRG4_uc002enq.1_5'Flank NM_022910 NP_075061 Q9ULP0 NDRG4_HUMAN NDRG family member 4 isoform 1 35 cell differentiation|cell growth|multicellular organismal development|response to stress cytoplasm skin(1) 1 GCCATCCTCACCTACCATGAT 0.637 NA 18 28 0.000132079 0.000170695 0.008871 1 0 CHST4 10164 broad.mit.edu 37 16 71571481 71571481 + Missense_Mutation SNP C C T TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr16:71571481C>T uc002fan.2 + 2 1082 c.901C>T c.(901-903)CAT>TAT p.H301Y CHST4_uc002fao.2_Missense_Mutation_p.H301Y NM_005769 NP_005760 Q8NCG5 CHST4_HUMAN carbohydrate (N-acetylglucosamine 6-O) 301 Lumenal (Potential). cell-cell signaling|immune response|inflammatory response|N-acetylglucosamine metabolic process|protein sulfation integral to membrane|intrinsic to Golgi membrane|trans-Golgi network N-acetylglucosamine 6-O-sulfotransferase activity 0 ATTCTTGCCCCATCTTCAGAC 0.562 NA OREG0023923 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 16 34 0 0 0.004007 0 0 TUBB3 10381 broad.mit.edu 37 16 89985766 89985766 + Missense_Mutation SNP C C T TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr16:89985766C>T uc002fpf.2 + 1 508 c.100C>T c.(100-102)CGG>TGG p.R34W MC1R_uc002fpe.3_Missense_Mutation_p.R34W|TUBB3_uc010ciz.1_5'Flank NM_006086 NP_006077 Q13509 TBB3_HUMAN tubulin, beta, 4 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment 'de novo' posttranslational protein folding|axon guidance|microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|structural molecule activity ovary(2)|pancreas(1) 3 all_cancers(9;1.69e-11)|Lung NSC(15;8.94e-06)|all_lung(18;1.39e-05)|all_neural(9;0.00581)|all_hematologic(23;0.0194) BRCA - Breast invasive adenocarcinoma(80;0.0273) GACAGGAGCCCGGTGCCTGGA 0.647 NA 3 27 0 0 0.004672 0 0 TP53 7157 broad.mit.edu 37 17 7578455 7578455 + Missense_Mutation SNP C C G TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr17:7578455C>G uc002gim.2 - 5 669 c.475G>C c.(475-477)GCC>CCC p.A159P TP53_uc002gig.1_Missense_Mutation_p.A159P|TP53_uc002gih.2_Missense_Mutation_p.A159P|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.A27P|TP53_uc010cng.1_Missense_Mutation_p.A27P|TP53_uc002gii.1_Missense_Mutation_p.A27P|TP53_uc010cnh.1_Missense_Mutation_p.A159P|TP53_uc010cni.1_Missense_Mutation_p.A159P|TP53_uc002gij.2_Missense_Mutation_p.A159P|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.A66P|TP53_uc002gio.2_Missense_Mutation_p.A27P|TP53_uc010vug.1_Missense_Mutation_p.A120P NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 159 Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). A -> G (in sporadic cancers; somatic mutation).|A -> T (in sporadic cancers; somatic mutation).|A -> V (in sporadic cancers; somatic mutation).|A -> P (in sporadic cancers; somatic mutation).|A -> D (in sporadic cancers; somatic mutation).|A -> S (in sporadic cancers; somatic mutation).|A -> F (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions). 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.A159V(30)|p.A159P(13)|p.A159A(8)|p.A159T(7)|p.A159D(7)|p.0?(7)|p.A159fs*11(5)|p.A159S(4)|p.R158_A159insX(4)|p.R158_A159delRA(2)|p.R156_I162delRVRAMAI(2)|p.V157fs*9(2)|p.R158fs*11(2)|p.A159fs*21(2)|p.V157_C176del20(1)|p.R156_A161delRVRAMA(1)|p.P151_V173del23(1)|p.R156fs*18(1)|p.R156_A161del(1)|p.R158_A159insXX(1)|p.V157_M160delVRAM(1)|p.S149fs*72(1)|p.T155_A161delTRVRAMA(1)|p.R156fs*20(1)|p.V157_I162delVRAMAI(1)|p.A159_Q167delAMAIYKQSQ(1)|p.V157fs*21(1)|p.R158fs*8(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) ATGGCCATGGCGCGGACGCGG 0.627 Pancreas(47;798 1329 9957 10801) 111 Mis|N|F breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types Other_conserved_DNA_damage_response_genes Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumensyndrome|Osteosarcoma_Familial_Clustering_of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 25 14 0 0 0.003954 0 0 MRM1 79922 broad.mit.edu 37 17 34958541 34958541 + Missense_Mutation SNP G G A TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr17:34958541G>A uc002hne.2 + 1 517 c.302G>A c.(301-303)CGG>CAG p.R101Q MRM1_uc002hnf.2_5'UTR NM_024864 NP_079140 Q6IN84 MRM1_HUMAN mitochondrial rRNA methyltransferase 1 homolog 101 RNA processing mitochondrion RNA binding|RNA methyltransferase activity 0 Breast(25;0.00957)|Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0184) CCAGTTCTGCGGCCCAGACGG 0.687 NA 24 29 0 0 0.003954 0 0 C17orf57 124989 broad.mit.edu 37 17 45473278 45473278 + Missense_Mutation SNP C C G TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr17:45473278C>G uc002iln.2 + 17 2291 c.1880C>G c.(1879-1881)TCT>TGT p.S627C C17orf57_uc002ilm.2_Missense_Mutation_p.S531C NM_152347 NP_689560 Q8IY85 CQ057_HUMAN hypothetical protein LOC124989 627 calcium ion binding breast(1)|central_nervous_system(1)|skin(1) 3 AATACTCTGTCTAGTTTGAAT 0.353 NA 4 58 0 0 0.000248 0 0 TEX14 56155 broad.mit.edu 37 17 56676480 56676480 + Silent SNP G G A rs114600472 by1000genomes TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr17:56676480G>A uc010dcz.1 - 14 2362 c.2244C>T c.(2242-2244)CAC>CAT p.H748H TEX14_uc002iwr.1_Silent_p.H742H|TEX14_uc002iws.1_Silent_p.H742H|TEX14_uc010dda.1_Silent_p.H522H NM_198393 NP_938207 Q8IWB6 TEX14_HUMAN testis expressed sequence 14 isoform a 748 Potential. cytoplasm ATP binding|protein kinase activity stomach(4)|lung(3)|breast(3)|ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)|skin(1)|pancreas(1) 17 Medulloblastoma(34;0.127)|all_neural(34;0.237) CATCATTCTCGTGCATTATTG 0.428 NA 53 134 0 0 0.00361 0 0 TEX14 56155 broad.mit.edu 37 17 56700349 56700349 + Silent SNP A A T TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr17:56700349A>T uc010dcz.1 - 4 394 c.276T>A c.(274-276)CCT>CCA p.P92P TEX14_uc002iwr.1_Silent_p.P92P|TEX14_uc002iws.1_Silent_p.P92P|TEX14_uc010dda.1_5'UTR NM_198393 NP_938207 Q8IWB6 TEX14_HUMAN testis expressed sequence 14 isoform a 92 ANK 3. cytoplasm ATP binding|protein kinase activity stomach(4)|lung(3)|breast(3)|ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)|skin(1)|pancreas(1) 17 Medulloblastoma(34;0.127)|all_neural(34;0.237) CTGCATGGACAGGGGTGCTCC 0.567 NA 13 38 0 0 0.001368 0 0 RNMT 8731 broad.mit.edu 37 18 13737099 13737099 + Nonsense_Mutation SNP G G A TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr18:13737099G>A uc002ksk.1 + 4 711 c.644G>A c.(643-645)TGG>TAG p.W215* RNMT_uc002ksl.1_Nonsense_Mutation_p.W215*|RNMT_uc002ksm.1_Nonsense_Mutation_p.W215*|RNMT_uc010dlk.2_Nonsense_Mutation_p.W215*|RNMT_uc010xae.1_RNA NM_003799 NP_003790 O43148 MCES_HUMAN RNA (guanine-7-) methyltransferase 215 mRNA capping|transcription from RNA polymerase II promoter|viral reproduction nucleoplasm mRNA (guanine-N7-)-methyltransferase activity|RNA binding 0 TTGCTGAAATGGAAAAAAGGA 0.328 GBM(29;474 594 19092 36647 41529) NA 13 22 0 0 0.003163 0 0 MC5R 4161 broad.mit.edu 37 18 13826520 13826520 + Silent SNP C C A TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr18:13826520C>A uc010xaf.1 + 1 756 c.756C>A c.(754-756)GCC>GCA p.A252A NM_005913 NP_005904 P33032 MC5R_HUMAN melanocortin 5 receptor 252 Helical; Name=6; (Potential). G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process integral to plasma membrane melanocortin receptor activity|protein binding ovary(3)|lung(2)|breast(1) 6 TGTGCTGGGCCCCGTTCTTCC 0.572 NA 26 94 9.57634e-11 1.4902e-10 0.00333 1 0 ALPK2 115701 broad.mit.edu 37 18 56274588 56274588 + Missense_Mutation SNP C C G TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr18:56274588C>G uc002lhj.3 - 3 407 c.193G>C c.(193-195)GAG>CAG p.E65Q NM_052947 NP_443179 Q86TB3 ALPK2_HUMAN heart alpha-kinase 65 Ig-like 1. ATP binding|protein serine/threonine kinase activity ovary(7)|skin(5)|lung(1)|central_nervous_system(1) 14 TACTGATTCTCAAAGAATTCA 0.393 NA 3 44 0 0 0.004672 0 0 ACSBG2 81616 broad.mit.edu 37 19 6187335 6187335 + Missense_Mutation SNP C C A TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr19:6187335C>A uc002mef.1 + 12 1809 c.1582C>A c.(1582-1584)CCT>ACT p.P528T ACSBG2_uc002mee.1_Missense_Mutation_p.P341T|ACSBG2_uc002meg.1_Missense_Mutation_p.P528T|ACSBG2_uc002meh.1_Missense_Mutation_p.P528T|ACSBG2_uc002mei.1_Missense_Mutation_p.P478T|ACSBG2_uc010xiz.1_Missense_Mutation_p.P528T NM_030924 NP_112186 Q5FVE4 ACBG2_HUMAN bubblegum-related acyl-CoA synthetase 2 528 cell differentiation|fatty acid metabolic process|multicellular organismal development|spermatogenesis membrane|microsome|mitochondrion acyl-CoA thioesterase activity|ATP binding|long-chain fatty acid-CoA ligase activity ovary(1) 1 GCCCCCCATTCCTGTTGAGAC 0.468 NA 56 25 5.86059e-21 1.08332e-20 0.00361 1 0 MAP2K7 5609 broad.mit.edu 37 19 7975916 7975916 + Missense_Mutation SNP G G T TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr19:7975916G>T uc002mit.2 + 7 792 c.727G>T c.(727-729)GAC>TAC p.D243Y MAP2K7_uc002miv.2_Missense_Mutation_p.D243Y|MAP2K7_uc010xka.1_RNA|MAP2K7_uc010xkb.1_Missense_Mutation_p.D243Y|MAP2K7_uc010dvv.2_Missense_Mutation_p.D118Y NM_145185 NP_660186 O14733 MP2K7_HUMAN mitogen-activated protein kinase kinase 7 243 Protein kinase. Proton acceptor (By similarity). activation of JUN kinase activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleus ATP binding|JUN kinase kinase activity|magnesium ion binding|protein binding|protein kinase binding|protein phosphatase binding|protein serine/threonine kinase activity|protein tyrosine kinase activity large_intestine(7)|central_nervous_system(2)|ovary(1)|lung(1) 11 Etoposide(DB00773) CATCCACCGCGACGTCAAGCC 0.632 NA 20 10 2.4624e-09 3.66357e-09 0.008871 1 0 MUC16 94025 broad.mit.edu 37 19 9065219 9065219 + Silent SNP G G C TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr19:9065219G>C uc002mkp.2 - 3 22431 c.22227C>G c.(22225-22227)TCC>TCG p.S7409S NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 7411 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 CTGGTAATGTGGAAGAAACAG 0.522 NA 3 31 0 0 0.000248 0 0 MUC16 94025 broad.mit.edu 37 19 9087031 9087031 + Missense_Mutation SNP G G T TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr19:9087031G>T uc002mkp.2 - 1 4988 c.4784C>A c.(4783-4785)ACA>AAA p.T1595K NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 1595 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 TCTCCCTTGTGTCCCGAGCTC 0.483 NA 67 39 1.08241e-25 2.10276e-25 0.00361 1 0 EMR2 30817 broad.mit.edu 37 19 14865885 14865885 + Nonsense_Mutation SNP C C A TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr19:14865885C>A uc002mzp.1 - 14 1927 c.1471G>T c.(1471-1473)GGA>TGA p.G491* EMR2_uc010dzs.1_Intron|EMR2_uc010xnw.1_Intron|EMR2_uc002mzo.1_Nonsense_Mutation_p.G480*|EMR2_uc002mzq.1_Nonsense_Mutation_p.G431*|EMR2_uc002mzr.1_Nonsense_Mutation_p.G442*|EMR2_uc002mzs.1_Nonsense_Mutation_p.G349*|EMR2_uc002mzt.1_Nonsense_Mutation_p.G387*|EMR2_uc002mzu.1_Nonsense_Mutation_p.G398*|EMR2_uc010xnx.1_RNA|EMR2_uc010xny.1_Intron NM_013447 NP_038475 Q9UHX3 EMR2_HUMAN egf-like module containing, mucin-like, hormone 491 Extracellular (Potential).|GPS. cell adhesion|neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity lung(2)|ovary(1)|skin(1) 4 TGACCACATCCATTCTGGCCA 0.512 NA 36 16 2.05212e-20 3.74788e-20 0.005524 1 0 ZNF85 7639 broad.mit.edu 37 19 21131729 21131729 + Missense_Mutation SNP T T C TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr19:21131729T>C uc002npg.3 + 4 536 c.409T>C c.(409-411)TGT>CGT p.C137R ZNF85_uc010ecn.2_Missense_Mutation_p.C72R|ZNF85_uc010eco.2_Missense_Mutation_p.C85R|ZNF85_uc002npi.2_Missense_Mutation_p.C78R NM_003429 NP_003420 Q03923 ZNF85_HUMAN zinc finger protein 85 137 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding central_nervous_system(1) 1 ACTTAACCAATGTCTCACAGC 0.323 NA 11 46 0 0 0.000978 0 0 FCGBP 8857 broad.mit.edu 37 19 40367787 40367787 + Silent SNP G G A TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr19:40367787G>A uc002omp.3 - 29 13181 c.13173C>T c.(13171-13173)TGC>TGT p.C4391C NM_003890 NP_003881 Q9Y6R7 FCGBP_HUMAN Fc fragment of IgG binding protein precursor 4391 TIL 10. 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) AACCCGCGTCGCACTGGCAGC 0.647 NA 19 56 0 0 0.003954 0 0 TRPM4 54795 broad.mit.edu 37 19 49675355 49675355 + Silent SNP C C G TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr19:49675355C>G uc002pmw.2 + 9 1212 c.1140C>G c.(1138-1140)GCC>GCG p.A380A TRPM4_uc010emu.2_Silent_p.A380A|TRPM4_uc010yak.1_5'UTR|TRPM4_uc002pmx.2_Silent_p.A206A|TRPM4_uc010emv.2_Silent_p.A265A|TRPM4_uc010yal.1_Intron NM_017636 NP_060106 Q8TD43 TRPM4_HUMAN transient receptor potential cation channel, 380 Cytoplasmic (Potential). dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane ATP binding|calcium activated cation channel activity|calmodulin binding ovary(1)|central_nervous_system(1) 2 all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15) all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751) TTTTGAAGGCCCTTGTGAAGG 0.502 NA 28 43 0 0 0.007291 0 0 ZNF534 147658 broad.mit.edu 37 19 52942343 52942343 + Missense_Mutation SNP C C G TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr19:52942343C>G uc002pzk.2 + 4 1730 c.1669C>G c.(1669-1671)CAT>GAT p.H557D ZNF534_uc002pzj.1_Intron|ZNF534_uc010epo.1_Intron|ZNF534_uc002pzl.2_Missense_Mutation_p.H544D NM_001143939 NP_001137411 Q76KX8 ZN534_HUMAN zinc finger protein 534 isoform 2 557 C2H2-type 13. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 TAGGAATGTTCATACTGGAGA 0.438 NA 5 1 0 0 0.001168 0 0 ZNF816A 125893 broad.mit.edu 37 19 53454526 53454526 + Missense_Mutation SNP G G A TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr19:53454526G>A uc002qal.1 - 5 803 c.502C>T c.(502-504)CAC>TAC p.H168Y ZNF321_uc010eqj.2_Intron|ZNF321_uc002qak.1_Intron|ZNF816A_uc002qam.1_Missense_Mutation_p.H152Y NM_001031665 NP_001026835 Q0VGE8 ZN816_HUMAN zinc finger protein 816A 168 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 GBM - Glioblastoma multiforme(134;0.0313) TGAAACATGTGGAGTTCAGGC 0.423 NA 30 110 0 0 0.008361 0 0 KIR3DP1 768329 broad.mit.edu 37 19 55301604 55301605 + Missense_Mutation DNP TC TC CA TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 TC TC - - TC TC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr19:55301604_55301605TC>CA uc010yfi.1 + 5 784_785 c.783_784TC>CA c.(781-786)GCTCAT>GCCAAT p.H262N KIR2DS4_uc010yfj.1_Intron|KIR2DS4_uc010yfk.1_Intron|KIR2DL4_uc010yfl.1_Intron NM_001015070 NP_001015070 killer-cell Ig-like receptor 0 GBM - Glioblastoma multiforme(193;0.0192) AGGGGGAGGCTCATGAACTTAG 0.599 NA 23 61 0 0 0.004672 0 0 STRN 6801 broad.mit.edu 37 2 37132762 37132762 + Splice_Site SNP C C A TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr2:37132762C>A uc002rpn.2 - 4 422 c.413_splice c.e4-1 p.D138_splice STRN_uc010ezx.2_Splice_Site_p.D138_splice NM_003162 NP_003153 O43815 STRN_HUMAN striatin, calmodulin binding protein dendrite development|locomotory behavior|negative regulation of cell proliferation|tight junction assembly|Wnt receptor signaling pathway cytoplasm|dendritic spine|neuronal cell body|postsynaptic density|postsynaptic membrane|tight junction armadillo repeat domain binding|calmodulin binding|estrogen receptor binding|protein complex binding|protein phosphatase 2A binding skin(1) 1 Ovarian(717;0.0129)|all_hematologic(82;0.21) TTACCTTCATCTAGAAAACAT 0.333 NA 11 48 2.80697e-09 4.15596e-09 0.000978 1 0 SIX2 10736 broad.mit.edu 37 2 45233362 45233362 + Missense_Mutation SNP G G T TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr2:45233362G>T uc002ruo.2 - 2 1116 c.823C>A c.(823-825)CAG>AAG p.Q275K SIX2_uc002rup.2_Missense_Mutation_p.Q277K NM_016932 NP_058628 Q9NPC8 SIX2_HUMAN SIX homeobox 2 275 nucleus sequence-specific DNA binding transcription factor activity pancreas(1) 1 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) ATGGAGTCCTGCAGGCCATGG 0.642 NA 9 80 2.52707e-12 4.01435e-12 0.006214 1 0 C2orf86 51057 broad.mit.edu 37 2 63631787 63631787 + Silent SNP C C A TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr2:63631787C>A uc002sch.2 - 10 1277 c.831G>T c.(829-831)CTG>CTT p.L277L C2orf86_uc002sce.2_RNA|C2orf86_uc002scf.2_Silent_p.L118L|C2orf86_uc010ypu.1_RNA|C2orf86_uc002scg.2_Silent_p.L85L|C2orf86_uc002sci.1_Silent_p.L253L|C2orf86_uc010fcr.1_Silent_p.L167L NM_015910 NP_056994 O95876 FRITZ_HUMAN hypothetical protein LOC51057 isoform 2 277 cilium morphogenesis|regulation of embryonic cell shape|regulation of protein localization|septin cytoskeleton organization cilium axoneme|cytoplasm|cytoskeleton|plasma membrane 0 GGACAGAACTCAGAACCTGTT 0.408 NA 19 39 3.99206e-14 6.54612e-14 0.007413 1 0 DYSF 8291 broad.mit.edu 37 2 71783149 71783149 + Missense_Mutation SNP G G T TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr2:71783149G>T uc002sie.2 + 22 2486 c.2110G>T c.(2110-2112)GAC>TAC p.D704Y DYSF_uc010feg.2_Missense_Mutation_p.D735Y|DYSF_uc010feh.2_Missense_Mutation_p.D690Y|DYSF_uc002sig.3_Missense_Mutation_p.D690Y|DYSF_uc010yqx.1_RNA|DYSF_uc010fee.2_Missense_Mutation_p.D704Y|DYSF_uc010fef.2_Missense_Mutation_p.D721Y|DYSF_uc010fei.2_Missense_Mutation_p.D721Y|DYSF_uc010fek.2_Missense_Mutation_p.D722Y|DYSF_uc010fej.2_Missense_Mutation_p.D691Y|DYSF_uc010fel.2_Missense_Mutation_p.D691Y|DYSF_uc010feo.2_Missense_Mutation_p.D736Y|DYSF_uc010fem.2_Missense_Mutation_p.D705Y|DYSF_uc010fen.2_Missense_Mutation_p.D722Y|DYSF_uc002sif.2_Missense_Mutation_p.D705Y NM_003494 NP_003485 O75923 DYSF_HUMAN dysferlin isoform 8 704 Cytoplasmic (Potential). cytoplasmic vesicle membrane|integral to membrane|sarcolemma calcium-dependent phospholipid binding ovary(3)|breast(2)|pancreas(1)|skin(1) 7 CTCCACGGAGGACGTGGACTC 0.662 NA 3 6 0.004672 0.00572273 0.004672 1 0 GGCX 2677 broad.mit.edu 37 2 85777724 85777724 + Nonsense_Mutation SNP G G A TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr2:85777724G>A uc002sps.2 - 14 2144 c.2038C>T c.(2038-2040)CGA>TGA p.R680* GGCX_uc010yss.1_Nonsense_Mutation_p.R496*|GGCX_uc010yst.1_Nonsense_Mutation_p.R623* NM_000821 NP_000812 P38435 VKGC_HUMAN gamma-glutamyl carboxylase isoform 1 680 Lumenal (Potential). blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification endoplasmic reticulum membrane|integral to membrane|membrane fraction gamma-glutamyl carboxylase activity ovary(1) 1 Anisindione(DB01125)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Drotrecogin alfa(DB00055)|L-Glutamic Acid(DB00142)|Menadione(DB00170)|Phytonadione(DB01022) CGGAAGAATCGCTCATGGAAA 0.483 NA 47 62 0 0 0.003214 0 0 GLI2 2736 broad.mit.edu 37 2 121726325 121726325 + Missense_Mutation SNP C C A TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr2:121726325C>A uc010flp.2 + 5 709 c.679C>A c.(679-681)CTG>ATG p.L227M GLI2_uc002tmq.1_Intron|GLI2_uc002tmr.1_Intron|GLI2_uc002tmt.3_Intron|GLI2_uc002tmu.3_Intron|GLI2_uc002tmv.1_Missense_Mutation_p.P97H|GLI2_uc010flo.1_Missense_Mutation_p.L102M|GLI2_uc002tmw.1_Missense_Mutation_p.L227M NM_005270 NP_005261 P10070 GLI2_HUMAN GLI-Kruppel family member GLI2 227 axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis nucleus|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(8)|lung(2)|breast(1)|central_nervous_system(1)|pancreas(1) 13 Renal(3;0.0496) Prostate(154;0.0623) GACGCCCCGCCTGAGCCGCAA 0.642 NA 22 79 7.33532e-06 9.76975e-06 0.003954 1 0 POTEF 728378 broad.mit.edu 37 2 130877604 130877604 + Missense_Mutation SNP C C A TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr2:130877604C>A uc010fmh.2 - 3 885 c.485G>T c.(484-486)AGG>ATG p.R162M NM_001099771 NP_001093241 A5A3E0 POTEF_HUMAN prostate, ovary, testis expressed protein on 162 cell cortex ATP binding skin(3)|ovary(2) 5 GTCAGTGTCCCTGAGCATGAC 0.587 NA 30 21 6.84511e-11 1.07065e-10 0.003271 1 0 LRP1B 53353 broad.mit.edu 37 2 141108413 141108413 + Missense_Mutation SNP T T C TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr2:141108413T>C uc002tvj.1 - 77 12817 c.11845A>G c.(11845-11847)AAA>GAA p.K3949E NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 3949 Extracellular (Potential).|LDL-receptor class B 33. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1) 50 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) TGGATCCTTTTGTAGAAAATT 0.348 Colon(99;50 2074 2507 20106) NA TSP Lung(27;0.18) 9 19 0 0 0.006214 0 0 LRP1B 53353 broad.mit.edu 37 2 141108467 141108467 + Missense_Mutation SNP G G C TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr2:141108467G>C uc002tvj.1 - 77 12763 c.11791C>G c.(11791-11793)CAA>GAA p.Q3931E NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 3931 Extracellular (Potential). protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1) 50 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) ATATCTCTTTGATAATATACA 0.348 Colon(99;50 2074 2507 20106) NA TSP Lung(27;0.18) 10 37 0 0 0.006214 0 0 RIF1 55183 broad.mit.edu 37 2 152267818 152267818 + Missense_Mutation SNP A A T TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr2:152267818A>T uc002txm.2 + 3 279 c.149A>T c.(148-150)GAG>GTG p.E50V RIF1_uc002txl.2_Missense_Mutation_p.E50V|RIF1_uc010fnv.1_Missense_Mutation_p.E14V|RIF1_uc002txn.2_Missense_Mutation_p.E50V|RIF1_uc002txo.2_Missense_Mutation_p.E50V|RIF1_uc010zby.1_RNA NM_018151 NP_060621 Q5UIP0 RIF1_HUMAN RAP1 interacting factor 1 50 cell cycle|response to DNA damage stimulus chromosome, telomeric region|cytoplasm|nucleus|spindle binding ovary(5)|breast(4)|skin(3)|lung(2)|kidney(1) 15 BRCA - Breast invasive adenocarcinoma(221;0.0429) ACAGAAATTGAGAAAAAACTT 0.284 NA 15 25 0 0 0.004007 0 0 GRB14 2888 broad.mit.edu 37 2 165353575 165353575 + Missense_Mutation SNP T T C TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr2:165353575T>C uc002ucl.2 - 12 1866 c.1325A>G c.(1324-1326)CAC>CGC p.H442R GRB14_uc010zcv.1_Missense_Mutation_p.H355R|GRB14_uc002ucm.2_RNA NM_004490 NP_004481 Q14449 GRB14_HUMAN growth factor receptor-bound protein 14 442 SH2. blood coagulation|leukocyte migration cytosol|endosome membrane|Golgi membrane|microsome|plasma membrane SH3/SH2 adaptor activity ovary(5)|upper_aerodigestive_tract(1)|lung(1) 7 AGAAATTTTGTGGTGAAACCA 0.388 NA 6 29 0 0 0.004482 0 0 TTN 7273 broad.mit.edu 37 2 179425863 179425863 + Silent SNP A A G TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr2:179425863A>G uc010zfg.1 - 275 77516 c.77292T>C c.(77290-77292)GCT>GCC p.A25764A uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.A19459A|TTN_uc010zfi.1_Silent_p.A19392A|TTN_uc010zfj.1_Silent_p.A19267A NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 26691 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) CTGAGTCAGCAGCATTCCTTG 0.403 NA 22 64 0 0 0.001882 0 0 TTN 7273 broad.mit.edu 37 2 179542483 179542483 + Missense_Mutation SNP G G A TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr2:179542483G>A uc010zfg.1 - 143 30648 c.30424C>T c.(30424-30426)CCT>TCT p.P10142S TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.P6803S|TTN_uc010fre.1_Intron|TTN_uc002una.1_RNA|TTN_uc010frf.1_RNA NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 11069 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) TCTTCTTCAGGTAGAACTTCC 0.428 NA 22 81 0 0 0.00278 0 0 PTPRN 5798 broad.mit.edu 37 2 220161970 220161970 + Silent SNP C C A rs145338513 byFrequency TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr2:220161970C>A uc002vkz.2 - 14 2162 c.2073G>T c.(2071-2073)ACG>ACT p.T691T PTPRN_uc010zlc.1_Silent_p.T601T|PTPRN_uc002vla.2_Silent_p.T662T NM_002846 NP_002837 Q16849 PTPRN_HUMAN protein tyrosine phosphatase, receptor type, N 691 Cytoplasmic (Potential). response to reactive oxygen species integral to plasma membrane transmembrane receptor protein tyrosine phosphatase activity ovary(2)|lung(1)|skin(1) 4 Renal(207;0.0474) Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875) TCATGTGTCCCGTGGAGATGT 0.662 NA 22 27 1.28384e-07 1.77181e-07 0.001882 1 0 USP40 55230 broad.mit.edu 37 2 234436148 234436148 + Missense_Mutation SNP C C A TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr2:234436148C>A uc010zmr.1 - 12 1663 c.1663G>T c.(1663-1665)GCT>TCT p.A555S USP40_uc010zmt.1_Missense_Mutation_p.A199S NM_018218 NP_060688 Q9NVE5 UBP40_HUMAN ubiquitin thioesterase 40 543 ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity ovary(1)|lung(1)|breast(1) 3 Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539) Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646) GGGTGCAGAGCCCCATTGAAG 0.403 NA 15 15 1.67942e-08 2.43915e-08 0.006122 1 0 COL6A3 1293 broad.mit.edu 37 2 238250709 238250709 + Silent SNP C C T TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr2:238250709C>T uc002vwl.2 - 37 8049 c.7764G>A c.(7762-7764)TTG>TTA p.L2588L COL6A3_uc002vwo.2_Silent_p.L2382L|COL6A3_uc010znj.1_Silent_p.L1981L|COL6A3_uc002vwj.2_5'UTR NM_004369 NP_004360 P12111 CO6A3_HUMAN alpha 3 type VI collagen isoform 1 precursor 2588 Nonhelical region. axon guidance|cell adhesion|muscle organ development collagen type VI|extracellular space serine-type endopeptidase inhibitor activity 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) ACAGCTTACCCAAGCAAACAT 0.463 NA 5 21 0 0 0.000602 0 0 PROKR2 128674 broad.mit.edu 37 20 5294591 5294591 + Missense_Mutation SNP G G T TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr20:5294591G>T uc010zqw.1 - 1 425 c.425C>A c.(424-426)TCC>TAC p.S142Y PROKR2_uc010zqx.1_Missense_Mutation_p.S142Y|PROKR2_uc010zqy.1_Missense_Mutation_p.S142Y|uc002wly.1_5'Flank NM_144773 NP_658986 Q8NFJ6 PKR2_HUMAN prokineticin receptor 2 142 Helical; Name=3; (Potential). integral to membrane|plasma membrane neuropeptide Y receptor activity ovary(3)|central_nervous_system(1)|pancreas(1) 5 GGCATTGGTGGAGACGTAGAG 0.597 NA HNSCC(71;0.22) 17 13 1.5739e-10 2.43674e-10 0.004007 1 0 ASXL1 171023 broad.mit.edu 37 20 31022609 31022609 + Silent SNP G G T TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr20:31022609G>T uc002wxs.2 + 12 2520 c.2094G>T c.(2092-2094)CCG>CCT p.P698P ASXL1_uc010geb.2_Silent_p.P589P NM_015338 NP_056153 Q8IXJ9 ASXL1_HUMAN additional sex combs like 1 isoform 1 698 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent PR-DUB complex metal ion binding|protein binding haematopoietic_and_lymphoid_tissue(239)|large_intestine(6)|central_nervous_system(2)|ovary(1) 248 AACTACTGCCGCCTTATCCTC 0.587 NA F|N|Mis MDS|CMML 6 17 0.00448238 0.00551261 0.004482 1 0 SPATA2 9825 broad.mit.edu 37 20 48522689 48522689 + Missense_Mutation SNP T T A TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr20:48522689T>A uc010gie.2 - 3 1380 c.1030A>T c.(1030-1032)AGG>TGG p.R344W SPATA2_uc002xuw.2_Missense_Mutation_p.R344W|SPATA2_uc010zyn.1_Missense_Mutation_p.R207W NM_001135773 NP_001129245 Q9UM82 SPAT2_HUMAN spermatogenesis associated 2 344 cell differentiation|multicellular organismal development|spermatogenesis cytoplasm|nucleus central_nervous_system(1)|skin(1) 2 Hepatocellular(150;0.133) BRCA - Breast invasive adenocarcinoma(9;4.03e-06) TAGGTGGCCCTGGGTTCAGAG 0.637 NA 24 25 0 0 0.00278 0 0 TTC3 7267 broad.mit.edu 37 21 38538740 38538740 + Missense_Mutation SNP G G T TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr21:38538740G>T uc002yvz.2 + 33 4329 c.4224G>T c.(4222-4224)GAG>GAT p.E1408D TTC3_uc011aee.1_Missense_Mutation_p.E1098D|TTC3_uc002ywa.2_Missense_Mutation_p.E1408D|TTC3_uc002ywb.2_Missense_Mutation_p.E1408D|TTC3_uc010gnf.2_Missense_Mutation_p.E1173D|TTC3_uc002ywc.2_Missense_Mutation_p.E1098D|TTC3_uc002ywd.1_Missense_Mutation_p.E472D NM_001001894 NP_001001894 P53804 TTC3_HUMAN tetratricopeptide repeat domain 3 1408 protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process nucleus protein binding|ubiquitin-protein ligase activity|zinc ion binding skin(3)|ovary(2)|lung(2)|breast(2) 9 Myeloproliferative disorder(46;0.0412) AGATCCTTGAGGGCTCTTTGG 0.438 Ovarian(38;194 1649 35661) NA 37 39 1.22674e-20 2.25396e-20 0.00874 1 0 U2AF1 7307 broad.mit.edu 37 21 44524456 44524456 + Missense_Mutation SNP G G A TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr21:44524456G>A uc002zda.1 - 2 185 c.101C>T c.(100-102)TCT>TTT p.S34F U2AF1_uc002zcy.1_5'UTR|U2AF1_uc002zcz.1_5'UTR|U2AF1_uc002zdb.1_Missense_Mutation_p.S34F|U2AF1_uc010gpi.1_Missense_Mutation_p.S34F|U2AF1_uc002zdc.1_Missense_Mutation_p.S34F NM_001025203 NP_001020374 Q01081 U2AF1_HUMAN U2 small nuclear RNA auxillary factor 1 isoform 34 C3H1-type 1. mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription Cajal body|catalytic step 2 spliceosome|nuclear speck nucleotide binding|RNA binding|zinc ion binding 0 GTGCAACCGAGAGCACCTGTC 0.358 NA 3 6 0 0 0.004672 0 0 C22orf42 150297 broad.mit.edu 37 22 32546391 32546391 + Missense_Mutation SNP A A G TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr22:32546391A>G uc003amd.2 - 7 610 c.569T>C c.(568-570)CTA>CCA p.L190P NM_001010859 NP_001010859 Q6IC83 CV042_HUMAN chromosome 22 open reading frame 42 190 ovary(1)|skin(1) 2 AGAGACAGATAGGCTTTCACT 0.438 NA 39 39 0 0 0.00623 0 0 GCAT 23464 broad.mit.edu 37 22 38211724 38211724 + Missense_Mutation SNP G G C TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr22:38211724G>C uc003atz.2 + 7 889 c.869G>C c.(868-870)CGG>CCG p.R290P GCAT_uc003aua.1_Missense_Mutation_p.R316P NM_014291 NP_055106 O75600 KBL_HUMAN glycine C-acetyltransferase precursor 290 biosynthetic process|cellular amino acid metabolic process glycine C-acetyltransferase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups 0 Melanoma(58;0.045) Glycine(DB00145)|Pyridoxal Phosphate(DB00114) CAGCGCGCCCGGCCATACCTC 0.642 NA 49 67 0 0 0.00361 0 0 CPT1B 1375 broad.mit.edu 37 22 51015406 51015406 + Silent SNP G G A TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr22:51015406G>A uc003bmk.3 - 3 501 c.339C>T c.(337-339)TCC>TCT p.S113S CPT1B_uc003bml.2_Silent_p.S113S|CPT1B_uc003bmm.2_Silent_p.S113S|CPT1B_uc003bmo.2_Silent_p.S113S|CPT1B_uc011asa.1_Silent_p.S113S|CPT1B_uc003bmn.2_Silent_p.S113S|CPT1B_uc011asb.1_Silent_p.S113S|CHKB-CPT1B_uc003bmp.2_5'UTR NM_001145137 NP_001138609 Q92523 CPT1B_HUMAN carnitine palmitoyltransferase 1B isoform a 113 Helical; (Potential). carnitine shuttle|fatty acid beta-oxidation|regulation of fatty acid oxidation integral to membrane|mitochondrial outer membrane carnitine O-palmitoyltransferase activity ovary(1)|central_nervous_system(1) 2 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;3.56e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.39e-74)|Epithelial(4;5.58e-70)|GBM - Glioblastoma multiforme(4;5.59e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.207) AGACGCCCGTGGAGAAGATGG 0.607 Esophageal Squamous(170;988 1933 25577 30295 48163) NA OREG0026685 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 49 55 0 0 0.00361 0 0 CMTM7 112616 broad.mit.edu 37 3 32495741 32495741 + Missense_Mutation SNP G G T TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr3:32495741G>T uc003cey.1 + 5 759 c.523G>T c.(523-525)GTC>TTC p.V175F CMTM7_uc003cez.1_Missense_Mutation_p.V142F NM_138410 NP_612419 Q96FZ5 CKLF7_HUMAN CKLF-like MARVEL transmembrane domain containing 175 chemotaxis extracellular space|integral to membrane cytokine activity 0 AGATGCAGCCGTCTGATGAGG 0.587 NA 16 41 5.3912e-06 7.21192e-06 0.006122 1 0 NKTR 4820 broad.mit.edu 37 3 42685392 42685392 + Splice_Site SNP A A T TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr3:42685392A>T uc003clo.2 + 16 4347 c.4200_splice c.e16-2 p.R1400_splice NKTR_uc003clp.2_Missense_Mutation_p.R1148W|NKTR_uc011azp.1_Silent_p.A210A|NKTR_uc003cls.2_Splice_Site_p.R1100_splice NM_005385 NP_005376 P30414 NKTR_HUMAN natural killer-tumor recognition sequence protein folding membrane cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity ovary(2)|skin(1) 3 KIRC - Kidney renal clear cell carcinoma(284;0.24) CCGTTAAAGCAGGTCCTACAC 0.443 NA 12 18 0 0 0.001368 0 0 DUSP7 1849 broad.mit.edu 37 3 52088311 52088311 + Silent SNP C C A TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr3:52088311C>A uc003dct.2 - 2 676 c.597G>T c.(595-597)TCG>TCT p.S199S DUSP7_uc010hma.2_Silent_p.S199S NM_001947 NP_001938 Q16829 DUS7_HUMAN dual specificity phosphatase 7 199 Ser-rich. inactivation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm MAP kinase tyrosine/serine/threonine phosphatase activity|protein binding|protein tyrosine phosphatase activity ovary(1) 1 BRCA - Breast invasive adenocarcinoma(193;5.14e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) AGGTGGGTGGCGAGCTGCTCG 0.627 NA 13 42 1.49906e-05 1.97928e-05 0.00245 1 0 CNTN3 5067 broad.mit.edu 37 3 74316416 74316416 + Splice_Site SNP C C T TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr3:74316416C>T uc003dpm.1 - 20 2897 c.2817_splice c.e20+1 p.K939_splice NM_020872 NP_065923 Q9P232 CNTN3_HUMAN contactin 3 precursor 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) AGAAAACTTACTTTATATCCT 0.338 NA 9 53 0 0 0.004482 0 0 NFKBIZ 64332 broad.mit.edu 37 3 101574687 101574687 + Missense_Mutation SNP A A G TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr3:101574687A>G uc003dvp.2 + 9 1880 c.1765A>G c.(1765-1767)AAG>GAG p.K589E NFKBIZ_uc003dvo.2_Missense_Mutation_p.K489E|NFKBIZ_uc010hpo.2_Missense_Mutation_p.K489E|NFKBIZ_uc003dvq.2_Missense_Mutation_p.K467E NM_031419 NP_113607 Q9BYH8 IKBZ_HUMAN nuclear factor of kappa light polypeptide gene 589 Interaction with NFKB1/p50 (By similarity).|ANK 5. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ovary(2) 2 ACTGAAGAATAAGAGTCTGGT 0.448 NA 13 25 0 0 0.001368 0 0 COL29A1 256076 broad.mit.edu 37 3 130159301 130159301 + Missense_Mutation SNP T T A TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr3:130159301T>A uc010htj.1 + 35 6613 c.6119T>A c.(6118-6120)CTA>CAA p.L2040Q COL29A1_uc010hti.1_RNA|COL29A1_uc010htk.1_Missense_Mutation_p.L79Q NM_153264 NP_694996 A8TX70 CO6A5_HUMAN collagen, type XXIX, alpha 1 2040 VWFA 9.|Nonhelical region. axon guidance|cell adhesion collagen 0 AACCAACTCCTAATGAAGAAT 0.408 NA 14 67 0 0 0.003163 0 0 PIK3CB 5291 broad.mit.edu 37 3 138456718 138456718 + Missense_Mutation SNP C C A TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr3:138456718C>A uc011bmq.1 - 4 632 c.632G>T c.(631-633)AGC>ATC p.S211I NM_006219 NP_006210 P42338 PK3CB_HUMAN catalytic phosphatidylinositol 3-kinase beta 211 PI3K-RBD. activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell receptor signaling pathway phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity breast(2)|ovary(1)|lung(1)|skin(1) 5 CACTTGAAAGCTAAACACGTC 0.348 NA 6 26 8.12818e-05 0.000105944 0.001984 1 0 TM4SF4 7104 broad.mit.edu 37 3 149193609 149193609 + Splice_Site SNP G G T TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr3:149193609G>T uc003exd.1 + 2 406 c.175_splice c.e2-1 p.M59_splice NM_004617 NP_004608 P48230 T4S4_HUMAN transmembrane 4 superfamily member 4 integral to membrane 0 LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048) TCTCCTGGTAGATGATCTTCC 0.572 NA 7 15 2.7689e-08 3.98355e-08 0.001984 1 0 SI 6476 broad.mit.edu 37 3 164727105 164727105 + Missense_Mutation SNP A A G TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr3:164727105A>G uc003fei.2 - 35 4203 c.4141T>C c.(4141-4143)TTT>CTT p.F1381L NM_001041 NP_001032 P14410 SUIS_HUMAN sucrase-isomaltase 1381 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) TCATTGTAAAAGTCCACAATT 0.368 NA HNSCC(35;0.089) 3 62 0 0 0.004672 0 0 MFSD7 84179 broad.mit.edu 37 4 678304 678304 + Nonsense_Mutation SNP C C A TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr4:678304C>A uc003gay.2 - 6 868 c.811G>T c.(811-813)GAG>TAG p.E271* MFSD7_uc003gaw.2_Nonsense_Mutation_p.E13*|MFSD7_uc003gax.2_Nonsense_Mutation_p.E270*|MFSD7_uc003gaz.2_Nonsense_Mutation_p.E152*|MFSD7_uc003gba.2_Nonsense_Mutation_p.E174*|MFSD7_uc003gbb.1_Nonsense_Mutation_p.E206* NM_032219 NP_115595 Q6UXD7 MFSD7_HUMAN major facilitator superfamily domain containing 271 transmembrane transport integral to membrane 0 AGGATCTGCTCCAGGAGGGCT 0.622 NA OREG0016025 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 53 63 9.90819e-18 1.71704e-17 0.00361 1 0 OTOP1 133060 broad.mit.edu 37 4 4214688 4214688 + Nonsense_Mutation SNP G G T TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr4:4214688G>T uc003ghp.1 - 2 477 c.447C>A c.(445-447)TGC>TGA p.C149* NM_177998 NP_819056 Q7RTM1 OTOP1_HUMAN otopetrin 1 149 Helical; (Potential). biomineral tissue development extracellular space|integral to membrane ovary(2)|central_nervous_system(1) 3 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) CAATTTTAAGGCATCCCAGGA 0.408 NA 6 16 3.59834e-05 4.73057e-05 0.001168 1 0 C4orf14 84273 broad.mit.edu 37 4 57843074 57843074 + Silent SNP C C G TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr4:57843074C>G uc003hck.2 - 1 753 c.678G>C c.(676-678)CTG>CTC p.L226L POLR2B_uc003hcl.1_5'Flank|POLR2B_uc011cae.1_5'Flank|POLR2B_uc011caf.1_5'Flank NM_032313 NP_115689 Q8NC60 CD014_HUMAN hypothetical protein LOC84273 226 GTP binding ovary(1)|breast(1) 2 Glioma(25;0.08)|all_neural(26;0.181) GGGCGTCGGGCAGGTCCAGCA 0.697 NA 14 49 0 0 0.001855 0 0 C4orf35 85438 broad.mit.edu 37 4 71201618 71201618 + Missense_Mutation SNP G G T TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr4:71201618G>T uc003hff.2 + 1 948 c.862G>T c.(862-864)GAT>TAT p.D288Y NM_033122 NP_149113 Q96KC9 CABS1_HUMAN testis development protein NYD-SP26 288 flagellum calcium ion binding 0 all_hematologic(202;0.196) TCTGCTAACTGATGAAGAAAC 0.413 NA 8 25 9.70103e-10 1.4504e-09 0.008291 1 0 ADAMTS3 9508 broad.mit.edu 37 4 73148902 73148902 + Missense_Mutation SNP T T G TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr4:73148902T>G uc003hgk.1 - 22 3606 c.3569A>C c.(3568-3570)AAG>ACG p.K1190T NM_014243 NP_055058 O15072 ATS3_HUMAN ADAM metallopeptidase with thrombospondin type 1 1190 collagen catabolic process|collagen fibril organization|proteolysis proteinaceous extracellular matrix heparin binding|metalloendopeptidase activity|zinc ion binding ovary(1)|lung(1) 2 Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) GTCAATGATCTTTCCATCTTT 0.448 NSCLC(168;1941 2048 2918 13048 43078) NA 11 77 0 0 0.001368 0 0 USO1 8615 broad.mit.edu 37 4 76725312 76725312 + Missense_Mutation SNP A A T TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr4:76725312A>T uc003hiu.2 + 17 2187 c.2012A>T c.(2011-2013)CAG>CTG p.Q671L USO1_uc003hiv.2_Missense_Mutation_p.Q513L|USO1_uc003hiw.2_Missense_Mutation_p.Q506L NM_003715 NP_003706 O60763 USO1_HUMAN USO1 homolog, vesicle docking protein 671 Potential. intracellular protein transport|vesicle fusion with Golgi apparatus cytosol|Golgi membrane protein binding|protein transporter activity ovary(2)|central_nervous_system(1) 3 Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934) GAATTAAGGCAGCAGGTTTCT 0.368 NA 10 8 0 0 0.006214 0 0 NEUROG2 63973 broad.mit.edu 37 4 113436575 113436575 + Silent SNP C C A TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr4:113436575C>A uc003ias.2 - 2 384 c.57G>T c.(55-57)CTG>CTT p.L19L NM_024019 NP_076924 Q9H2A3 NGN2_HUMAN neurogenin 2 19 positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent nucleus E-box binding skin(2)|central_nervous_system(1) 3 Ovarian(17;0.156) OV - Ovarian serous cystadenocarcinoma(123;0.00168) CCGATCCGAGCAGCACTAACA 0.483 NA 9 33 3.09899e-07 4.20085e-07 0.004482 1 0 MMAA 166785 broad.mit.edu 37 4 146560343 146560343 + Missense_Mutation SNP A A G TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr4:146560343A>G uc003ikh.3 + 2 137 c.52A>G c.(52-54)AGA>GGA p.R18G MMAA_uc003ikg.2_Missense_Mutation_p.R18G|MMAA_uc003iki.1_RNA|MMAA_uc010iow.2_RNA NM_172250 NP_758454 Q8IVH4 MMAA_HUMAN methylmalonic aciduria type A precursor 18 mitochondrion GTP binding|nucleoside-triphosphatase activity ovary(1) 1 all_hematologic(180;0.151) Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) AGGCCTTTTAAGAGCACCTTT 0.438 NA 22 70 0 0 0.001882 0 0 TLR2 7097 broad.mit.edu 37 4 154625452 154625452 + Missense_Mutation SNP A A T TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr4:154625452A>T uc003inq.2 + 3 1612 c.1393A>T c.(1393-1395)AGC>TGC p.S465C TLR2_uc003inr.2_Missense_Mutation_p.S465C|TLR2_uc003ins.2_Missense_Mutation_p.S465C NM_003264 NP_003255 O60603 TLR2_HUMAN toll-like receptor 2 precursor 465 LRR 12.|Extracellular (Potential). cellular response to diacyl bacterial lipopeptide|cellular response to lipoteichoic acid|cellular response to triacyl bacterial lipopeptide|detection of diacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|I-kappaB phosphorylation|induction of apoptosis|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of interferon-beta production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of Wnt receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway cytoplasm|integral to plasma membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex Gram-positive bacterial cell surface binding|lipopolysaccharide receptor activity|peptidoglycan binding|protein heterodimerization activity|transmembrane receptor activity|triacyl lipopeptide binding ovary(1)|lung(1)|breast(1) 3 all_hematologic(180;0.093) Renal(120;0.117) TTTAGATGTTAGCAACAACAA 0.368 NA 34 27 0 0 0.003271 0 0 GALNTL6 442117 broad.mit.edu 37 4 173942643 173942643 + Nonsense_Mutation SNP G G A TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr4:173942643G>A uc003isv.2 + 12 2241 c.1505G>A c.(1504-1506)TGG>TAG p.W502* NM_001034845 NP_001030017 Q49A17 GLTL6_HUMAN N-acetylgalactosaminyltransferase-like 6 502 Ricin B-type lectin.|Lumenal (Potential). Golgi membrane|integral to membrane metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding p.?(1) breast(2)|ovary(1)|skin(1) 4 ACCTTTGGATGGAGAGAAGAT 0.478 NA 31 43 0 0 0.002836 0 0 MLF1IP 79682 broad.mit.edu 37 4 185622019 185622019 + Missense_Mutation SNP T T A TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr4:185622019T>A uc003iwq.2 - 11 1011 c.941A>T c.(940-942)GAA>GTA p.E314V MLF1IP_uc003iwp.2_Intron|MLF1IP_uc003iwr.1_Intron NM_024629 NP_078905 Q71F23 CENPU_HUMAN MLF1 interacting protein 314 Nuclear localization signal (Potential).|Potential. CenH3-containing nucleosome assembly at centromere|interspecies interaction between organisms|mitotic prometaphase|regulation of transcription, DNA-dependent|transcription, DNA-dependent centrosome|condensed chromosome kinetochore|cytosol|nucleoplasm 0 all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Hepatocellular(41;0.000519)|Colorectal(36;0.00172)|Renal(120;0.00988)|Prostate(90;0.0235)|all_neural(102;0.0299)|all_hematologic(60;0.0592)|Medulloblastoma(177;0.146) all cancers(43;7.83e-28)|Epithelial(43;2.56e-24)|OV - Ovarian serous cystadenocarcinoma(60;4.5e-11)|Colorectal(24;3.27e-06)|STAD - Stomach adenocarcinoma(60;2.66e-05)|GBM - Glioblastoma multiforme(59;3.16e-05)|BRCA - Breast invasive adenocarcinoma(30;0.000252)|COAD - Colon adenocarcinoma(29;0.000512)|LUSC - Lung squamous cell carcinoma(40;0.01)|READ - Rectum adenocarcinoma(43;0.0419) CCTTTTCTTTTCGATATCTGA 0.323 NA 19 47 0 0 0.002299 0 0 CDH12 1010 broad.mit.edu 37 5 22078729 22078729 + Silent SNP G G A TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr5:22078729G>A uc010iuc.2 - 2 515 c.57C>T c.(55-57)CTC>CTT p.L19L CDH12_uc011cno.1_Silent_p.L19L|CDH12_uc003jgk.2_Silent_p.L19L NM_004061 NP_004052 P55289 CAD12_HUMAN cadherin 12, type 2 preproprotein 19 adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2) 2 GTGGTGTTAGGAGACCTCCAT 0.453 NA HNSCC(59;0.17) 33 225 0 0 0.002445 0 0 CDH10 1008 broad.mit.edu 37 5 24498613 24498613 + Missense_Mutation SNP G G A rs145457868 byFrequency TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr5:24498613G>A uc003jgr.1 - 9 1741 c.1409C>T c.(1408-1410)ACA>ATA p.T470I CDH10_uc011cnu.1_RNA NM_006727 NP_006718 Q9Y6N8 CAD10_HUMAN cadherin 10, type 2 preproprotein 470 Cadherin 4.|Extracellular (Potential). adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(6)|pancreas(4)|breast(2) 12 STAD - Stomach adenocarcinoma(35;0.0556) CACGCGTGTTGTCTCTTTGGG 0.373 NA HNSCC(23;0.051) 35 24 0 0 0.004289 0 0 ADAMTS12 81792 broad.mit.edu 37 5 33576368 33576368 + Missense_Mutation SNP G G T TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr5:33576368G>T uc003jia.1 - 19 3926 c.3763C>A c.(3763-3765)CAC>AAC p.H1255N ADAMTS12_uc010iuq.1_Missense_Mutation_p.H1170N NM_030955 NP_112217 P58397 ATS12_HUMAN ADAM metallopeptidase with thrombospondin type 1 1255 Spacer 2. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1) 9 TCTGGCTGGTGGTCTCCTCCC 0.527 NA HNSCC(64;0.19) 83 85 9.46827e-25 1.82774e-24 0.00361 1 0 NNT 23530 broad.mit.edu 37 5 43700243 43700243 + Missense_Mutation SNP G G T TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr5:43700243G>T uc003joe.2 + 20 3154 c.2899G>T c.(2899-2901)GGC>TGC p.G967C NNT_uc003jof.2_Missense_Mutation_p.G967C NM_012343 NP_036475 Q13423 NNTM_HUMAN nicotinamide nucleotide transhydrogenase 967 Mitochondrial matrix.|NADP. tricarboxylic acid cycle integral to membrane|mitochondrial respiratory chain NAD binding|NAD(P)+ transhydrogenase (AB-specific) activity|NAD(P)+ transhydrogenase (B-specific) activity|NADP binding ovary(2)|central_nervous_system(1) 3 Lung NSC(6;2.58e-06) NADH(DB00157) CCCAGTTGCAGGCCGAATGCC 0.458 NA 24 110 1.17739e-12 1.88013e-12 0.005443 1 0 SLC38A9 153129 broad.mit.edu 37 5 54968503 54968503 + Missense_Mutation SNP G G C TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr5:54968503G>C uc003jqf.2 - 4 335 c.134C>G c.(133-135)ACA>AGA p.T45R SLC38A9_uc003jqd.2_5'UTR|SLC38A9_uc010ivx.2_Missense_Mutation_p.T18R|SLC38A9_uc003jqe.2_RNA|SLC38A9_uc010ivy.2_Intron NM_173514 NP_775785 Q8NBW4 S38A9_HUMAN solute carrier family 38, member 9 45 amino acid transport|sodium ion transport integral to membrane 0 Lung NSC(810;0.00122)|Prostate(74;0.0376)|Breast(144;0.181) CACGATGTTTGTGGGCTCTAT 0.418 NA 3 42 0 0 0.004672 0 0 SLCO6A1 133482 broad.mit.edu 37 5 101834498 101834498 + Missense_Mutation SNP C C A TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr5:101834498C>A uc003knn.2 - 1 223 c.51G>T c.(49-51)AGG>AGT p.R17S SLCO6A1_uc003kno.2_Missense_Mutation_p.R17S|SLCO6A1_uc003knp.2_Missense_Mutation_p.R17S|SLCO6A1_uc003knq.2_Missense_Mutation_p.R17S NM_173488 NP_775759 Q86UG4 SO6A1_HUMAN solute carrier organic anion transporter family, 17 Cytoplasmic (Potential). integral to membrane|plasma membrane transporter activity ovary(3)|skin(3)|central_nervous_system(1) 7 all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323) Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113) GCTCTACTCCCCTTGAGACTT 0.677 NA 53 84 2.84144e-21 5.28438e-21 0.00361 1 0 EPB41L4A 64097 broad.mit.edu 37 5 111595633 111595633 + Missense_Mutation SNP C C A TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr5:111595633C>A uc003kpv.1 - 8 960 c.686G>T c.(685-687)GGT>GTT p.G229V NM_022140 NP_071423 Q9HCS5 E41LA_HUMAN erythrocyte protein band 4.1-like 4 229 FERM. cytoplasm|cytoskeleton|extrinsic to membrane cytoskeletal protein binding ovary(1) 1 all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135) OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791) CACAACAACACCAACCGGAGT 0.378 NA 13 15 0.00010058 0.00013054 0.001368 1 0 PCDHA13 56136 broad.mit.edu 37 5 140264024 140264024 + Missense_Mutation SNP C C T TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr5:140264024C>T uc003lif.2 + 1 2171 c.2171C>T c.(2170-2172)TCG>TTG p.S724L PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Missense_Mutation_p.S724L|PCDHA13_uc003lid.2_Missense_Mutation_p.S724L NM_018904 NP_061727 Q9Y5I0 PCDAD_HUMAN protocadherin alpha 13 isoform 1 precursor 724 Cytoplasmic (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(3)|skin(2)|central_nervous_system(1) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTGCGGTGCTCGGCACCGCCC 0.657 Melanoma(147;1739 1852 5500 27947 37288) NA 21 76 0 0 0.003954 0 0 PCDHGA4 56111 broad.mit.edu 37 5 140736223 140736223 + Nonsense_Mutation SNP C C T TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr5:140736223C>T uc003ljq.1 + 1 1456 c.1456C>T c.(1456-1458)CGA>TGA p.R486* PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljp.1_Nonsense_Mutation_p.R486* NM_018917 NP_061740 Q9Y5G9 PCDG4_HUMAN protocadherin gamma subfamily A, 4 isoform 1 486 Extracellular (Potential).|Cadherin 5. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGACAATGCCCGAATCACTTA 0.507 NA 37 113 0 0 0.004289 0 0 SLC26A2 1836 broad.mit.edu 37 5 149357882 149357882 + Missense_Mutation SNP A A C TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr5:149357882A>C uc003lrh.2 + 2 935 c.667A>C c.(667-669)AGC>CGC p.S223R NM_000112 NP_000103 P50443 S26A2_HUMAN solute carrier family 26 member 2 223 Helical; (Potential). integral to plasma membrane|membrane fraction secondary active sulfate transmembrane transporter activity 0 KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147) TATGGTTGGCAGCACTGTAAC 0.353 NA 32 26 0 0 0.002836 0 0 CSF1R 1436 broad.mit.edu 37 5 149447883 149447883 + Silent SNP C C A TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr5:149447883C>A uc003lrl.2 - 10 1716 c.1521G>T c.(1519-1521)ACG>ACT p.T507T CSF1R_uc011dcd.1_Silent_p.T359T|CSF1R_uc010jhc.2_RNA|CSF1R_uc003lrm.2_Silent_p.T507T NM_005211 NP_005202 P07333 CSF1R_HUMAN colony stimulating factor 1 receptor precursor 507 Extracellular (Potential). cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane|receptor complex ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity haematopoietic_and_lymphoid_tissue(38)|lung(6)|central_nervous_system(3)|liver(3)|breast(2)|endometrium(1)|ovary(1) 54 KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147) Imatinib(DB00619)|Sunitinib(DB01268) CCGGGGGATGCGTGTGGGCTC 0.433 NA 9 29 2.74318e-10 4.20437e-10 0.006214 1 0 SH3PXD2B 285590 broad.mit.edu 37 5 171765873 171765873 + Missense_Mutation SNP G G A TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr5:171765873G>A uc003mbr.2 - 13 2407 c.2236C>T c.(2236-2238)CCT>TCT p.P746S NM_001017995 NP_001017995 A1X283 SPD2B_HUMAN SH3 and PX domains 2B 746 Pro-rich. adipose tissue development|bone development|cell communication|cell differentiation|eye development|heart development|podosome assembly cell junction|cell projection|cytoplasm|podosome phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-5-phosphate binding|SH2 domain binding ovary(3)|skin(1) 4 Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175) Medulloblastoma(196;0.0207)|all_neural(177;0.0625) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) TCTTGGAGAGGAACAGGCACG 0.602 NA 14 45 0 0 0.001855 0 0 HRH2 3274 broad.mit.edu 37 5 175111128 175111128 + Missense_Mutation SNP G G A TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr5:175111128G>A uc003mdd.2 + 1 2665 c.892G>A c.(892-894)GGG>AGG p.G298R HRH2_uc003mdc.3_Missense_Mutation_p.G298R NM_022304 NP_071640 P25021 HRH2_HUMAN histamine receptor H2 isoform 2 298 Cytoplasmic (Potential). G-protein signaling, coupled to cyclic nucleotide second messenger|immune response integral to plasma membrane histamine receptor activity ovary(1) 1 all_cancers(89;0.00805)|Renal(175;0.000269)|Lung NSC(126;0.00419)|all_lung(126;0.00711) Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183) Colorectal(1;0.0154)|COAD - Colon adenocarcinoma(1;0.149) Betazole(DB00272)|Cimetidine(DB00501)|Doxepin(DB01142)|Epinastine(DB00751)|Famotidine(DB00927)|Histamine Phosphate(DB00667)|Nizatidine(DB00585)|Ranitidine(DB00863) CTTCCGCACCGGGTACCAACA 0.567 NA 14 27 0 0 0.001855 0 0 DSP 1832 broad.mit.edu 37 6 7569537 7569537 + Missense_Mutation SNP C C A TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr6:7569537C>A uc003mxp.1 + 12 1817 c.1538C>A c.(1537-1539)CCT>CAT p.P513H DSP_uc003mxq.1_Missense_Mutation_p.P513H NM_004415 NP_004406 P15924 DESP_HUMAN desmoplakin isoform I 513 Globular 1.|Interacts with plakophilin 1 and junction plakoglobin. cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural constituent of cytoskeleton central_nervous_system(6)|ovary(2)|skin(1) 9 Ovarian(93;0.0584) all_hematologic(90;0.236) OV - Ovarian serous cystadenocarcinoma(45;0.000508) CTGATCATCCCTCCTCCGAAC 0.577 NA 34 32 1.36161e-19 2.4429e-19 0.004289 1 0 DSP 1832 broad.mit.edu 37 6 7580653 7580653 + Silent SNP G G A TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr6:7580653G>A uc003mxp.1 + 23 4509 c.4230G>A c.(4228-4230)AAG>AAA p.K1410K DSP_uc003mxq.1_Intron NM_004415 NP_004406 P15924 DESP_HUMAN desmoplakin isoform I 1410 Central fibrous rod domain.|Potential. cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural constituent of cytoskeleton central_nervous_system(6)|ovary(2)|skin(1) 9 Ovarian(93;0.0584) all_hematologic(90;0.236) OV - Ovarian serous cystadenocarcinoma(45;0.000508) AAGAAATAAAGAGGCTGAAGA 0.502 NA 22 27 0 0 0.001523 0 0 TFAP2D 83741 broad.mit.edu 37 6 50718983 50718983 + Missense_Mutation SNP C C A TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr6:50718983C>A uc003paf.2 + 7 1597 c.1085C>A c.(1084-1086)TCC>TAC p.S362Y TFAP2D_uc011dwt.1_RNA NM_172238 NP_758438 Q7Z6R9 AP2D_HUMAN transcription factor AP-2 beta-like 1 362 H-S-H (helix-span-helix), dimerization. DNA binding|sequence-specific DNA binding transcription factor activity ovary(6)|breast(1) 7 Lung NSC(77;0.0334) CTGGGATCCTCCAGACCCACT 0.353 NA 8 22 0.000274275 0.000350016 0.004482 1 0 FAM83B 222584 broad.mit.edu 37 6 54805349 54805349 + Missense_Mutation SNP A A G TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr6:54805349A>G uc003pck.2 + 5 1696 c.1580A>G c.(1579-1581)GAG>GGG p.E527G NM_001010872 NP_001010872 Q5T0W9 FA83B_HUMAN hypothetical protein LOC222584 527 ovary(6) 6 Lung NSC(77;0.0178)|Renal(3;0.122) GATAATCCTGAGAATTTGAAG 0.398 NA 12 36 0 0 0.000978 0 0 LCA5 167691 broad.mit.edu 37 6 80223222 80223222 + Missense_Mutation SNP G G C TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr6:80223222G>C uc003pix.2 - 3 862 c.427C>G c.(427-429)CAG>GAG p.Q143E LCA5_uc003piy.2_Missense_Mutation_p.Q143E|LCA5_uc011dyq.1_RNA|LCA5_uc011dyr.1_Missense_Mutation_p.Q143E NM_001122769 NP_001116241 Q86VQ0 LCA5_HUMAN Leber congenital amaurosis 5 143 Potential. protein transport cilium axoneme|microtubule basal body protein binding 0 all_cancers(76;3.32e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.0176) BRCA - Breast invasive adenocarcinoma(397;0.0657) GCTTTCTCCTGTCTGTACTGA 0.363 NA 5 57 0 0 0.000602 0 0 TTK 7272 broad.mit.edu 37 6 80744812 80744812 + Missense_Mutation SNP G G C TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr6:80744812G>C uc003pjc.2 + 15 1799 c.1725G>C c.(1723-1725)TTG>TTC p.L575F TTK_uc003pjb.3_Missense_Mutation_p.L574F NM_003318 NP_003309 P33981 TTK_HUMAN TTK protein kinase 575 Protein kinase. mitotic cell cycle spindle assembly checkpoint|mitotic spindle organization|positive regulation of cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation spindle ATP binding|identical protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(4)|stomach(2)|lung(2)|large_intestine(2)|pancreas(1) 11 all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2) BRCA - Breast invasive adenocarcinoma(397;0.0321) TAGCTTATTTGAATAAACTAC 0.279 NA 15 52 0 0 0.00499 0 0 FHL5 9457 broad.mit.edu 37 6 97063586 97063586 + Silent SNP C C T TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr6:97063586C>T uc003pos.1 + 7 1198 c.793C>T c.(793-795)CTG>TTG p.L265L FHL5_uc003pot.1_Silent_p.L265L NM_020482 NP_065228 Q5TD97 FHL5_HUMAN activator of cAMP-responsive element modulator 265 LIM zinc-binding 4. nucleus zinc ion binding ovary(2) 2 all_cancers(76;1.57e-07)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00266)|Colorectal(196;0.0341)|Lung NSC(302;0.204) BRCA - Breast invasive adenocarcinoma(108;0.0948) TAAAGGCTTCCTGACCCAGAA 0.483 NA 12 40 0 0 0.00245 0 0 NR2E1 7101 broad.mit.edu 37 6 108502054 108502054 + Silent SNP C C A TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr6:108502054C>A uc003psg.2 + 7 1538 c.783C>A c.(781-783)ATC>ATA p.I261I NM_003269 NP_003260 Q9Y466 NR2E1_HUMAN nuclear receptor subfamily 2, group E, member 1 261 Ligand-binding (By similarity). regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding central_nervous_system(1)|skin(1) 2 all_cancers(87;8.13e-05)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00866)|Colorectal(196;0.0637) BRCA - Breast invasive adenocarcinoma(108;0.013)|Epithelial(106;0.0521)|all cancers(137;0.068)|OV - Ovarian serous cystadenocarcinoma(136;0.0689) TGAACAAGATCATATCTGAAA 0.373 NA 24 77 1.96895e-08 2.84611e-08 0.00278 1 0 ZBTB24 9841 broad.mit.edu 37 6 109787215 109787215 + Silent SNP G G A TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr6:109787215G>A uc003ptl.1 - 7 2101 c.1933C>T c.(1933-1935)CTG>TTG p.L645L MICAL1_uc011eaq.1_5'Flank|ZBTB24_uc011ear.1_RNA|ZBTB24_uc010kds.1_Silent_p.L589L|ZBTB24_uc010kdt.1_RNA NM_014797 NP_055612 O43167 ZBT24_HUMAN zinc finger and BTB domain containing 24 isoform 645 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding ovary(1)|central_nervous_system(1)|pancreas(1) 3 all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149) Epithelial(106;0.0154)|all cancers(137;0.0216)|OV - Ovarian serous cystadenocarcinoma(136;0.0242)|BRCA - Breast invasive adenocarcinoma(108;0.059) AGATGTTCCAGTGTTTCCTTG 0.502 NA 30 36 0 0 0.002096 0 0 FYN 2534 broad.mit.edu 37 6 111983047 111983047 + Missense_Mutation SNP C C A TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr6:111983047C>A uc003pvj.2 - 13 1849 c.1509G>T c.(1507-1509)TGG>TGT p.W503C FYN_uc003pvi.2_Missense_Mutation_p.W448C|FYN_uc003pvk.2_Missense_Mutation_p.W503C|FYN_uc003pvh.2_Missense_Mutation_p.W500C NM_002037 NP_002028 P06241 FYN_HUMAN protein-tyrosine kinase fyn isoform a 503 Protein kinase. axon guidance|calcium ion transport|feeding behavior|interspecies interaction between organisms|intracellular protein kinase cascade|learning|leukocyte migration|platelet activation|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|viral reproduction cytosol|endosome|plasma membrane ATP binding|glycoprotein binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity lung(5)|central_nervous_system(1)|skin(1) 7 all_cancers(87;1.37e-05)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00125)|Colorectal(196;0.0211) all cancers(137;0.0451)|OV - Ovarian serous cystadenocarcinoma(136;0.0476)|Epithelial(106;0.102) Dasatinib(DB01254) GGTCCTTTTTCCAGCAGTGGA 0.567 NA 59 89 1.80625e-27 3.57732e-27 0.00361 1 0 TAAR8 83551 broad.mit.edu 37 6 132874309 132874309 + Missense_Mutation SNP C C T TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr6:132874309C>T uc011ecj.1 + 1 478 c.478C>T c.(478-480)CTC>TTC p.L160F NM_053278 NP_444508 Q969N4 TAAR8_HUMAN trace amine associated receptor 8 160 Helical; Name=4; (Potential). plasma membrane G-protein coupled receptor activity ovary(1) 1 Breast(56;0.112) OV - Ovarian serous cystadenocarcinoma(155;0.00412)|GBM - Glioblastoma multiforme(226;0.00792) GATTCTGCCTCTCACGTACAG 0.493 NA 108 119 0 0 0.00361 0 0 TIAM2 26230 broad.mit.edu 37 6 155465783 155465784 + Missense_Mutation DNP GG GG TT TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 GG GG - - GG GG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr6:155465783_155465784GG>TT uc003qqb.2 + 8 2947_2948 c.1674_1675GG>TT c.(1672-1677)ATGGAT>ATTTAT p.558_559MD>IY TIAM2_uc003qqe.2_Missense_Mutation_p.558_559MD>IY|TIAM2_uc010kjj.2_Missense_Mutation_p.91_92MD>IY NM_012454 NP_036586 Q8IVF5 TIAM2_HUMAN T-cell lymphoma invasion and metastasis 2 558_559 PH 1. apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|filopodium|growth cone|lamellipodium receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity ovary(3)|breast(1) 4 Ovarian(120;0.196) OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053) AGAATTCCATGGATCAGAGCAG 0.485 NA 29 41 0 0 0.004672 0 0 ARID1B 57492 broad.mit.edu 37 6 157521999 157521999 + Missense_Mutation SNP C C T TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr6:157521999C>T uc003qqn.2 + 18 4369 c.4217C>T c.(4216-4218)CCG>CTG p.P1406L ARID1B_uc003qqo.2_Missense_Mutation_p.P1366L|ARID1B_uc003qqp.2_Missense_Mutation_p.P1353L NM_017519 NP_059989 Q8NFD5 ARI1B_HUMAN AT rich interactive domain 1B (SWI1-like) 1411 chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent SWI/SNF complex DNA binding|protein binding|transcription coactivator activity ovary(1)|breast(1) 2 Breast(66;0.000162)|Ovarian(120;0.0265) OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05) GGCCAGTACCCGTATCCCTAC 0.627 NA 4 33 0 0 0.000602 0 0 CYCS 54205 broad.mit.edu 37 7 25163735 25163735 + Missense_Mutation SNP C C G TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr7:25163735C>G uc003sxl.2 - 2 149 c.4G>C c.(4-6)GGT>CGT p.G2R NM_018947 NP_061820 P99999 CYC_HUMAN cytochrome c 2 activation of caspase activity by cytochrome c|DNA fragmentation involved in apoptotic nuclear change|induction of apoptosis by intracellular signals|respiratory electron transport chain|transport cytosol|mitochondrial inner membrane|mitochondrial intermembrane space|mitochondrial matrix|nucleus|protein phosphatase type 2A complex|respiratory chain electron transporter, transferring electrons from CoQH2-cytochrome c reductase complex and cytochrome c oxidase complex activity|heme binding|protein binding ovary(1)|lung(1) 2 Melatonin(DB01065)|Minocycline(DB01017) TCAACATCACCCATATTTAAT 0.383 NA 5 41 0 0 0.001168 0 0 MAGI2 9863 broad.mit.edu 37 7 77824308 77824308 + Missense_Mutation SNP G G A TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr7:77824308G>A uc003ugx.2 - 12 2406 c.2152C>T c.(2152-2154)CCC>TCC p.P718S MAGI2_uc003ugy.2_Missense_Mutation_p.P718S|MAGI2_uc010ldx.1_Missense_Mutation_p.P327S|MAGI2_uc010ldy.1_Missense_Mutation_p.P327S NM_012301 NP_036433 Q86UL8 MAGI2_HUMAN membrane associated guanylate kinase, WW and PDZ 718 cell junction|synapse|synaptosome phosphatase binding ovary(5)|lung(4)|breast(1)|skin(1) 11 all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236) GGTGGGAAGGGCAGGTTCTGC 0.517 NA 24 44 0 0 0.00278 0 0 CACNA2D1 781 broad.mit.edu 37 7 81593561 81593561 + Missense_Mutation SNP C C A TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr7:81593561C>A uc003uhr.1 - 33 2945 c.2689G>T c.(2689-2691)GCA>TCA p.A897S CACNA2D1_uc011kgy.1_Missense_Mutation_p.A109S NM_000722 NP_000713 P54289 CA2D1_HUMAN calcium channel, voltage-dependent, alpha 909 Extracellular (Potential). voltage-gated calcium channel complex metal ion binding ovary(5)|pancreas(1) 6 Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115) TGTTTTGGTGCAGCACCGGGC 0.423 NA 33 39 1.58521e-26 3.11928e-26 0.005524 1 0 LAMB4 22798 broad.mit.edu 37 7 107746332 107746332 + Missense_Mutation SNP C C A TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr7:107746332C>A uc010ljo.1 - 8 884 c.800G>T c.(799-801)TGC>TTC p.C267F LAMB4_uc003vey.2_Missense_Mutation_p.C267F NM_007356 NP_031382 A4D0S4 LAMB4_HUMAN laminin, beta 4 precursor 267 Laminin EGF-like 1. cell adhesion basement membrane ovary(4)|breast(2)|large_intestine(1)|skin(1) 8 ATGGCCATTGCAAAAGCAGCT 0.478 NA 25 33 5.45727e-16 9.24704e-16 0.008361 1 0 IQUB 154865 broad.mit.edu 37 7 123152037 123152037 + Nonsense_Mutation SNP C C A TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr7:123152037C>A uc003vkn.2 - 2 935 c.358G>T c.(358-360)GAA>TAA p.E120* IQUB_uc003vko.2_Nonsense_Mutation_p.E120*|IQUB_uc010lkt.2_RNA|IQUB_uc003vkp.1_Nonsense_Mutation_p.E120*|IQUB_uc003vkq.2_Nonsense_Mutation_p.E120* NM_178827 NP_849149 Q8NA54 IQUB_HUMAN IQ motif and ubiquitin domain containing 120 ovary(3)|large_intestine(1) 4 TGCAAAGATTCCTTTACAGAC 0.353 NA 13 24 3.27435e-08 4.64501e-08 0.00245 1 0 DGKI 9162 broad.mit.edu 37 7 137092687 137092687 + Missense_Mutation SNP A A T TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr7:137092687A>T uc003vtt.2 - 31 2879 c.2878T>A c.(2878-2880)TGT>AGT p.C960S DGKI_uc003vtu.2_Missense_Mutation_p.C629S NM_004717 NP_004708 O75912 DGKI_HUMAN diacylglycerol kinase, iota 960 ANK 1. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation nucleus|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding ovary(1)|kidney(1)|skin(1) 3 AGGAGTGAACAGTGGTCTGGT 0.443 NA 35 56 0 0 0.003755 0 0 KEL 3792 broad.mit.edu 37 7 142651424 142651424 + Silent SNP C C A TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr7:142651424C>A uc003wcb.2 - 8 981 c.771G>T c.(769-771)CTG>CTT p.L257L NM_000420 NP_000411 P23276 KELL_HUMAN Kell blood group, metallo-endopeptidase 257 Extracellular (Potential). proteolysis|vasoconstriction integral to membrane|plasma membrane metal ion binding|metalloendopeptidase activity|protein binding ovary(3)|central_nervous_system(1) 4 Melanoma(164;0.059) GCAAGGTTCCCAGCTGATTCA 0.542 NA 25 61 2.79863e-10 4.26791e-10 0.004656 1 0 CNTNAP2 26047 broad.mit.edu 37 7 146997300 146997300 + Silent SNP C C T TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr7:146997300C>T uc003weu.1 + 9 1932 c.1416C>T c.(1414-1416)CTC>CTT p.L472L NM_014141 NP_054860 Q9UHC6 CNTP2_HUMAN cell recognition molecule Caspr2 precursor 472 Extracellular (Potential).|Laminin G-like 2. behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex receptor binding ovary(9)|central_nervous_system(1)|pancreas(1) 11 Melanoma(164;0.153) all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794) OV - Ovarian serous cystadenocarcinoma(82;0.0319) TTGCTATTCTCACCATCGATG 0.413 NA HNSCC(39;0.1) 10 48 0 0 0.008291 0 0 GIMAP6 474344 broad.mit.edu 37 7 150324854 150324854 + Missense_Mutation SNP C C T TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr7:150324854C>T uc003whn.2 - 3 1256 c.832G>A c.(832-834)GAA>AAA p.E278K GIMAP6_uc003whm.2_Missense_Mutation_p.E198K NM_024711 NP_078987 Q6P9H5 GIMA6_HUMAN GTPase, IMAP family member 6 278 GTP binding upper_aerodigestive_tract(1)|ovary(1)|skin(1) 3 OV - Ovarian serous cystadenocarcinoma(82;0.0145) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) TCCTCAGATTCCTTCTGGATC 0.572 NA 16 62 0 0 0.004007 0 0 KCNH2 3757 broad.mit.edu 37 7 150647303 150647303 + Missense_Mutation SNP C C A rs149588350 TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr7:150647303C>A uc003wic.2 - 9 2364 c.2351G>T c.(2350-2352)CGG>CTG p.R784L KCNH2_uc003wib.2_Missense_Mutation_p.R444L|KCNH2_uc011kux.1_Missense_Mutation_p.R688L|KCNH2_uc003wid.2_Missense_Mutation_p.R444L|KCNH2_uc003wie.2_Missense_Mutation_p.R784L NM_000238 NP_000229 Q12809 KCNH2_HUMAN voltage-gated potassium channel, subfamily H, 784 Cytoplasmic (Potential).|cNMP. R -> W (predisposes to LQT2 and torsades de pointes while taking the drug amiodarone; in vitro studies confirmed a significant reduction in potassium currents; the ECG abnormalities reversed on drug withdrawal). blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent voltage-gated potassium channel complex delayed rectifier potassium channel activity|two-component sensor activity skin(3)|ovary(1) 4 all_neural(206;0.219) OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661) GATGGAGCCCCGGGAGATGAA 0.647 GBM(137;110 1844 13671 20123 45161) NA 28 57 3.73148e-12 5.8665e-12 0.007291 1 0 RNF32 140545 broad.mit.edu 37 7 156450897 156450897 + Silent SNP C C A rs149366944 TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr7:156450897C>A uc003wmo.2 + 6 708 c.526C>A c.(526-528)CGA>AGA p.R176R RNF32_uc010lql.1_RNA|RNF32_uc010lqm.2_Silent_p.R176R|RNF32_uc003wmq.2_Silent_p.R176R|RNF32_uc003wmr.2_Silent_p.R176R|RNF32_uc003wms.2_Silent_p.R176R|RNF32_uc003wmu.2_RNA|RNF32_uc003wmt.2_Silent_p.R176R NM_030936 NP_112198 Q9H0A6 RNF32_HUMAN ring finger protein 32 176 aggresome|endosome protein binding|zinc ion binding 0 Ovarian(565;0.218) all_hematologic(28;0.0592) OV - Ovarian serous cystadenocarcinoma(82;0.00291) UCEC - Uterine corpus endometrioid carcinoma (81;0.169) GTATCAAACCCGAGTGATACA 0.463 NA 22 29 1.55795e-14 2.58246e-14 0.001882 1 0 CHRNB3 1142 broad.mit.edu 37 8 42587121 42587121 + Missense_Mutation SNP C C A TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr8:42587121C>A uc003xpi.1 + 5 799 c.671C>A c.(670-672)ACG>AAG p.T224K NM_000749 NP_000740 Q05901 ACHB3_HUMAN cholinergic receptor, nicotinic, beta 224 Extracellular (Potential). synaptic transmission, cholinergic cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane nicotinic acetylcholine-activated cation-selective channel activity|receptor activity ovary(1) 1 all_lung(13;5.7e-12)|Lung NSC(13;1.6e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.184) all_lung(54;0.00026)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954) Lung(22;0.0199)|LUSC - Lung squamous cell carcinoma(45;0.0869) CCCTTTATCACGTATTCCTTC 0.468 NA 20 34 4.96729e-08 6.98167e-08 0.008871 1 0 CHRNA6 8973 broad.mit.edu 37 8 42611537 42611537 + Missense_Mutation SNP C C T TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr8:42611537C>T uc003xpj.2 - 5 851 c.805G>A c.(805-807)GGT>AGT p.G269S CHRNA6_uc011lcw.1_Missense_Mutation_p.G254S NM_004198 NP_004189 Q15825 ACHA6_HUMAN cholinergic receptor, nicotinic, alpha 6 269 cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity 0 all_lung(13;3.33e-12)|Lung NSC(13;9.17e-11)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184) all_lung(54;0.00439)|Lung NSC(58;0.0124)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151) Lung(22;0.0252)|LUSC - Lung squamous cell carcinoma(45;0.0869) ACTTTTTCACCACAGTCCGAA 0.423 NA 19 31 0 0 0.006122 0 0 KCNB2 9312 broad.mit.edu 37 8 73480446 73480446 + Missense_Mutation SNP G G T TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr8:73480446G>T uc003xzb.2 + 2 1065 c.477G>T c.(475-477)ATG>ATT p.M159I NM_004770 NP_004761 Q92953 KCNB2_HUMAN potassium voltage-gated channel, Shab-related 159 Cytoplasmic (Potential). regulation of smooth muscle contraction voltage-gated potassium channel complex delayed rectifier potassium channel activity|protein binding skin(3)|large_intestine(1)|pancreas(1)|ovary(1)|central_nervous_system(1) 7 Breast(64;0.137) Epithelial(68;0.105) CAGAGACTATGCGAGAGCGAG 0.468 NA 39 56 2.35958e-20 4.28377e-20 0.002222 1 0 CRISPLD1 83690 broad.mit.edu 37 8 75924769 75924769 + Missense_Mutation SNP G G T TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr8:75924769G>T uc003yan.2 + 3 735 c.360G>T c.(358-360)TTG>TTT p.L120F CRISPLD1_uc011lfk.1_5'UTR|CRISPLD1_uc011lfl.1_5'UTR NM_031461 NP_113649 Q9H336 CRLD1_HUMAN cysteine-rich secretory protein LCCL domain 120 extracellular region ovary(1)|central_nervous_system(1) 2 Breast(64;0.0799) Epithelial(68;0.155)|BRCA - Breast invasive adenocarcinoma(89;0.161) GACAGAATTTGGGAGCACACT 0.388 NA 25 29 2.52088e-20 4.54951e-20 0.00278 1 0 CSMD3 114788 broad.mit.edu 37 8 114326911 114326911 + Missense_Mutation SNP G G C TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr8:114326911G>C uc003ynu.2 - 2 449 c.290C>G c.(289-291)GCA>GGA p.A97G CSMD3_uc003ynt.2_Missense_Mutation_p.A57G|CSMD3_uc011lhx.1_Missense_Mutation_p.A97G|CSMD3_uc010mcx.1_Missense_Mutation_p.A97G|CSMD3_uc003ynx.3_Missense_Mutation_p.A97G NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 97 Extracellular (Potential).|CUB 1. integral to membrane|plasma membrane ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1) 63 TCGTTCTTCTGCTATTATTAC 0.358 NA HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 65 80 0 0 0.00361 0 0 TAF1L 138474 broad.mit.edu 37 9 32634632 32634632 + Missense_Mutation SNP C C A TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr9:32634632C>A uc003zrg.1 - 1 1036 c.946G>T c.(946-948)GCT>TCT p.A316S uc003zrh.1_RNA NM_153809 NP_722516 Q8IZX4 TAF1L_HUMAN TBP-associated factor RNA polymerase 1-like 316 male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent transcription factor TFIID complex DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding lung(8)|skin(6)|central_nervous_system(4)|large_intestine(3)|ovary(2)|stomach(1)|breast(1)|pancreas(1) 26 LUSC - Lung squamous cell carcinoma(29;0.0181) GBM - Glioblastoma multiforme(74;0.00301) GGTGGTGGAGCATAGTCATAG 0.473 NA 33 20 1.08312e-15 1.81512e-15 0.001786 1 0 FAM75A6 389730 broad.mit.edu 37 9 43627331 43627331 + Missense_Mutation SNP A A T TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr9:43627331A>T uc011lrb.1 - 4 1385 c.1356T>A c.(1354-1356)AAT>AAA p.N452K NM_001145196 NP_001138668 Q5VVP1 F75A6_HUMAN hypothetical protein LOC389730 452 integral to membrane 0 TTGGGCAGACATTGGACATTT 0.517 NA 21 468 0 0 0.002299 0 0 FAM189A2 9413 broad.mit.edu 37 9 71992567 71992567 + Missense_Mutation SNP G G T TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr9:71992567G>T uc010mon.1 + 6 505 c.401G>T c.(400-402)GGA>GTA p.G134V FAM189A2_uc004ahg.2_Missense_Mutation_p.G134V|FAM189A2_uc010moo.1_5'UTR NM_001127608 NP_001121080 Q15884 F1892_HUMAN chromosome 9 open reading frame 61 precursor 134 integral to membrane 0 GAGGATCATGGACGCATCCCC 0.527 NA 23 15 5.45024e-15 9.08373e-15 0.00333 1 0 TRPM6 140803 broad.mit.edu 37 9 77403579 77403579 + Missense_Mutation SNP C C A TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr9:77403579C>A uc004ajl.1 - 20 2856 c.2618G>T c.(2617-2619)TGG>TTG p.W873L TRPM6_uc004ajk.1_Missense_Mutation_p.W868L|TRPM6_uc010mpb.1_RNA|TRPM6_uc010mpc.1_Intron|TRPM6_uc010mpd.1_Intron|TRPM6_uc010mpe.1_Intron|TRPM6_uc004ajm.1_Intron NM_017662 NP_060132 Q9BX84 TRPM6_HUMAN transient receptor potential cation channel, 873 Cytoplasmic (Potential). response to toxin integral to membrane ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity lung(3)|stomach(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1) 8 GCTAACAAGCCACTCCTGCAC 0.498 NA 38 13 5.43694e-19 9.64108e-19 0.005524 1 0 LPAR1 1902 broad.mit.edu 37 9 113637828 113637828 + Missense_Mutation SNP C C G TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr9:113637828C>G uc004bfa.2 - 5 1223 c.968G>C c.(967-969)AGG>ACG p.R323T LPAR1_uc011lwm.1_Missense_Mutation_p.R324T|LPAR1_uc004bfb.2_Missense_Mutation_p.R323T|LPAR1_uc004bfc.2_Missense_Mutation_p.R323T|LPAR1_uc011lwn.1_Missense_Mutation_p.R305T|LPAR1_uc011lwo.1_Missense_Mutation_p.R324T|LPAR1_uc010mub.2_Missense_Mutation_p.R323T NM_057159 NP_476500 Q92633 LPAR1_HUMAN lysophosphatidic acid receptor 1 323 Cytoplasmic (Potential). positive regulation of I-kappaB kinase/NF-kappaB cascade cell surface|integral to plasma membrane ovary(2) 2 GAGGATCTGCCTAAAGGTGGC 0.547 NSCLC(115;661 2323 9836 34256) NA 52 22 0 0 0.00361 0 0 LAMC3 10319 broad.mit.edu 37 9 133920910 133920910 + Splice_Site SNP G G T TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr9:133920910G>T uc004caa.1 + 8 1481 c.1383_splice c.e8-1 p.R461_splice NM_006059 NP_006050 Q9Y6N6 LAMC3_HUMAN laminin, gamma 3 precursor cell adhesion basement membrane|membrane structural molecule activity ovary(2)|pancreas(1) 3 all_hematologic(7;0.0028) Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551) CTCCATTTCAGATGTCGCCCG 0.607 NA 11 38 3.27435e-08 4.64501e-08 0.00245 1 0 STS 412 broad.mit.edu 37 X 7177623 7177623 + Missense_Mutation SNP G G A TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chrX:7177623G>A uc004cry.3 + 5 876 c.631G>A c.(631-633)GTG>ATG p.V211M NM_000351 NP_000342 P08842 STS_HUMAN steryl-sulfatase precursor 211 Cytoplasmic. female pregnancy|steroid catabolic process endoplasmic reticulum membrane|endosome|Golgi apparatus|integral to membrane|lysosome|microsome|plasma membrane metal ion binding|steryl-sulfatase activity central_nervous_system(1) 1 Colorectal(8;0.0136)|Medulloblastoma(8;0.184) Estrone(DB00655) GCTACTCCACGTGCCTCTAGG 0.552 NA Ichthyosis 18 77 0 0 0.008871 0 0 EGFL6 25975 broad.mit.edu 37 X 13607713 13607713 + Missense_Mutation SNP C C A TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chrX:13607713C>A uc004cvi.2 + 2 353 c.113C>A c.(112-114)CCT>CAT p.P38H EGFL6_uc004cvj.2_Missense_Mutation_p.P38H|EGFL6_uc011mik.1_Translation_Start_Site NM_015507 NP_056322 Q8IUX8 EGFL6_HUMAN epidermal growth factor-like protein 6 38 cell adhesion|cell cycle|cell differentiation|multicellular organismal development basement membrane|extracellular space|membrane calcium ion binding|integrin binding breast(2) 2 GCACGTCAGCCTGGGGTCTGT 0.458 NA 20 46 5.26018e-13 8.44397e-13 0.001882 1 0 EGFL6 25975 broad.mit.edu 37 X 13624535 13624535 + Silent SNP C C A TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chrX:13624535C>A uc004cvi.2 + 6 798 c.558C>A c.(556-558)CCC>CCA p.P186P EGFL6_uc004cvj.2_Silent_p.P186P|EGFL6_uc011mik.1_Silent_p.P87P NM_015507 NP_056322 Q8IUX8 EGFL6_HUMAN epidermal growth factor-like protein 6 186 EGF-like 4; calcium-binding (Potential). cell adhesion|cell cycle|cell differentiation|multicellular organismal development basement membrane|extracellular space|membrane calcium ion binding|integrin binding breast(2) 2 TCATCTGTCCCTACAATCGAA 0.408 NA 32 67 3.76114e-14 6.20079e-14 0.004289 1 0 MAP7D2 256714 broad.mit.edu 37 X 20043197 20043197 + Missense_Mutation SNP C C G TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chrX:20043197C>G uc004czr.1 - 9 1180 c.1161G>C c.(1159-1161)TTG>TTC p.L387F MAP7D2_uc004czq.1_Missense_Mutation_p.L272F|MAP7D2_uc011mji.1_Missense_Mutation_p.L335F|MAP7D2_uc010nfo.1_Missense_Mutation_p.L428F|MAP7D2_uc011mjj.1_Missense_Mutation_p.L342F NM_152780 NP_689993 Q96T17 MA7D2_HUMAN MAP7 domain containing 2 387 ovary(2)|breast(1) 3 TGGGCTTCCCCAAGGCTGCAC 0.517 NA 41 80 0 0 0.006999 0 0 GK 2710 broad.mit.edu 37 X 30709269 30709269 + Missense_Mutation SNP G G T TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chrX:30709269G>T uc004dch.3 + 5 546 c.367G>T c.(367-369)GTT>TTT p.V123F GK_uc010ngj.2_Missense_Mutation_p.V123F|GK_uc004dci.3_Missense_Mutation_p.V123F|GK_uc011mjz.1_5'UTR|GK_uc011mka.1_5'UTR|GK_uc010ngk.2_5'UTR NM_203391 NP_976325 P32189 GLPK_HUMAN glycerol kinase isoform a 123 glycerol-3-phosphate metabolic process|triglyceride biosynthetic process cytosol|mitochondrial outer membrane ATP binding|glycerol kinase activity central_nervous_system(1) 1 CCAGTCTACCGTTGAGAGTCT 0.269 NA 31 56 9.17885e-22 1.71751e-21 0.003271 1 0 GK 2710 broad.mit.edu 37 X 30714174 30714174 + Missense_Mutation SNP G G T TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chrX:30714174G>T uc004dch.3 + 7 747 c.568G>T c.(568-570)GTC>TTC p.V190F GK_uc010ngj.2_Missense_Mutation_p.V190F|GK_uc004dci.3_Missense_Mutation_p.V190F|GK_uc011mjz.1_5'UTR|GK_uc011mka.1_Missense_Mutation_p.V27F|GK_uc010ngk.2_5'UTR NM_203391 NP_976325 P32189 GLPK_HUMAN glycerol kinase isoform a 190 glycerol-3-phosphate metabolic process|triglyceride biosynthetic process cytosol|mitochondrial outer membrane ATP binding|glycerol kinase activity central_nervous_system(1) 1 GACAGGAGGAGTCAATGGAGG 0.363 NA 4 19 0.000602214 0.000758989 0.000602 1 0 DMD 1756 broad.mit.edu 37 X 32490369 32490369 + Missense_Mutation SNP C C A TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chrX:32490369C>A uc004dda.1 - 22 3105 c.2861G>T c.(2860-2862)TGG>TTG p.W954L DMD_uc004dcz.2_Missense_Mutation_p.W831L|DMD_uc004dcy.1_Missense_Mutation_p.W950L|DMD_uc004ddb.1_Missense_Mutation_p.W946L|DMD_uc010ngo.1_Intron NM_004006 NP_003997 P11532 DMD_HUMAN dystrophin Dp427m isoform 954 Spectrin 6. muscle filament sliding|peptide biosynthetic process cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding ovary(3)|pancreas(2)|large_intestine(1) 6 all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203) CTGCTGGACCCATGTCCTGAT 0.428 NA 23 35 6.21321e-17 1.05868e-16 0.00278 1 0 MAGEB16 139604 broad.mit.edu 37 X 35821063 35821063 + Missense_Mutation SNP C C G TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chrX:35821063C>G uc010ngt.1 + 2 1029 c.750C>G c.(748-750)ATC>ATG p.I250M NM_001099921 NP_001093391 A2A368 MAGBG_HUMAN melanoma antigen family B, 16 250 MAGE. lung(3)|ovary(2)|breast(1)|skin(1) 7 GAATGCTCATCACCAAAGATT 0.502 NA 21 30 0 0 0.008871 0 0 RPGR 6103 broad.mit.edu 37 X 38146127 38146127 + Nonsense_Mutation SNP C C A TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chrX:38146127C>A uc004ded.1 - 15 2293 c.2125G>T c.(2125-2127)GAG>TAG p.E709* RPGR_uc004deb.2_Intron|RPGR_uc004dea.2_Intron|RPGR_uc004dec.2_Intron NM_001034853 NP_001030025 Q92834 RPGR_HUMAN retinitis pigmentosa GTPase regulator isoform C Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment intracellular protein transport|response to stimulus|visual perception Golgi apparatus|photoreceptor outer segment guanyl-nucleotide exchange factor activity|protein binding ovary(1) 1 tgctcctgctcttccccatcc 0 NA 11 21 0.000673444 0.000845269 0.008291 1 0 OTC 5009 broad.mit.edu 37 X 38268137 38268137 + Silent SNP C C A TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chrX:38268137C>A uc004def.3 + 8 940 c.726C>A c.(724-726)ACC>ACA p.T242T NM_000531 NP_000522 P00480 OTC_HUMAN ornithine carbamoyltransferase precursor 242 T -> I (in OTCD; late onset). arginine biosynthetic process|urea cycle mitochondrial matrix|ornithine carbamoyltransferase complex ornithine carbamoyltransferase activity ovary(1)|breast(1) 2 L-Citrulline(DB00155)|L-Ornithine(DB00129) AGAATGGTACCAAGCTGTTGC 0.393 NA 19 55 1.67942e-08 2.43915e-08 0.006122 1 0 ITIH5L 347365 broad.mit.edu 37 X 54818409 54818409 + Silent SNP G G T TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chrX:54818409G>T uc004dtj.2 - 3 348 c.318C>A c.(316-318)ATC>ATA p.I106I NM_198510 NP_940912 Q6UXX5 ITH5L_HUMAN inter-alpha (globulin) inhibitor H5-like 106 VIT. hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity lung(2)|skin(2)|ovary(1)|breast(1) 6 CTTCTTCATAGATTTTCTTTG 0.368 NA 24 56 3.73148e-12 5.8665e-12 0.007291 1 0 FAM123B 139285 broad.mit.edu 37 X 63410547 63410547 + Nonsense_Mutation SNP C C A TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chrX:63410547C>A uc004dvo.2 - 2 2893 c.2620G>T c.(2620-2622)GGA>TGA p.G874* NM_152424 NP_689637 Q5JTC6 F123B_HUMAN family with sequence similarity 123B 874 Wnt receptor signaling pathway cytoplasm|nucleus|plasma membrane p.0?(40) kidney(99)|large_intestine(6)|ovary(3)|lung(2)|breast(1)|liver(1) 112 CCAGGCAGTCCCAAGTATCGA 0.577 NA 12 23 0.000978159 0.0012227 0.000978 1 0 MTMR8 55613 broad.mit.edu 37 X 63569937 63569937 + Missense_Mutation SNP T T C TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chrX:63569937T>C uc004dvs.2 - 5 550 c.482A>G c.(481-483)TAC>TGC p.Y161C MTMR8_uc011mou.1_Missense_Mutation_p.Y161C|MTMR8_uc004dvt.1_Missense_Mutation_p.Y161C NM_017677 NP_060147 Q96EF0 MTMR8_HUMAN myotubularin related protein 8 161 Myotubularin phosphatase. nuclear envelope protein tyrosine phosphatase activity ovary(2)|breast(2) 4 TTCAGGAGGGTAGGTGCTGCA 0.348 NA 25 52 0 0 0.005443 0 0 HNRNPH2 3188 broad.mit.edu 37 X 100667052 100667052 + Nonsense_Mutation SNP G G T TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chrX:100667052G>T uc004ehm.2 + 2 246 c.76G>T c.(76-78)GAA>TAA p.E26* HNRNPH2_uc004ehn.2_Nonsense_Mutation_p.E26* NM_019597 NP_062543 P55795 HNRH2_HUMAN heterogeneous nuclear ribonucleoprotein H2 26 RRM 1. nuclear mRNA splicing, via spliceosome actin cytoskeleton|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm nucleotide binding|protein binding|RNA binding 0 CTCAGCCGATGAAGTGATGCG 0.527 NA 19 82 1.67942e-08 2.43915e-08 0.006122 1 0 GPRASP2 114928 broad.mit.edu 37 X 101971017 101971017 + Missense_Mutation SNP G G C TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chrX:101971017G>C uc004ejk.2 + 4 2554 c.1220G>C c.(1219-1221)TGT>TCT p.C407S GPRASP2_uc004ejl.2_Missense_Mutation_p.C407S|GPRASP2_uc004ejm.2_Missense_Mutation_p.C407S|GPRASP2_uc011mrp.1_5'Flank NM_138437 NP_612446 Q96D09 GASP2_HUMAN G protein-coupled receptor associated sorting 407 cytoplasm protein binding ovary(1) 1 TCAGCAATCTGTGAATCTGAG 0.552 NA 33 68 0 0 0.005524 0 0 MCART6 401612 broad.mit.edu 37 X 103349839 103349839 + Silent SNP C C A TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chrX:103349839C>A uc004elu.2 - 2 283 c.102G>T c.(100-102)GGG>GGT p.G34G NM_001012755 NP_001012773 Q5H9E4 MCAR6_HUMAN mitochondrial carrier triple repeat 6 34 Helical; Name=1; (Potential).|Solcar 1. transport integral to membrane|mitochondrial inner membrane 0 TGGAAACGGCCCCAAGGGCAT 0.542 NA 10 55 0.000442599 0.00056247 0.006214 1 0 KIAA1210 57481 broad.mit.edu 37 X 118250553 118250553 + Missense_Mutation SNP G G T TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chrX:118250553G>T uc004era.3 - 4 556 c.556C>A c.(556-558)CAG>AAG p.Q186K NM_020721 NP_065772 Q9ULL0 K1210_HUMAN hypothetical protein LOC57481 186 ovary(4)|skin(1) 5 TCTTCTTCCTGGGTATCTTCG 0.418 NA 9 21 0.00448238 0.00551261 0.004482 1 0 OCRL 4952 broad.mit.edu 37 X 128722933 128722933 + Silent SNP T T C TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chrX:128722933T>C uc004euq.2 + 22 2577 c.2412T>C c.(2410-2412)TGT>TGC p.C804C OCRL_uc004eur.2_Silent_p.C796C|OCRL_uc010nrb.2_RNA NM_000276 NP_000267 Q01968 OCRL_HUMAN phosphatidylinositol polyphosphate 5-phosphatase 804 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction clathrin-coated vesicle|cytosol|early endosome|Golgi stack|Golgi-associated vesicle GTPase activator activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding lung(2)|ovary(1)|kidney(1) 4 CAGTCATCTGTTACGAGCTGT 0.527 NA 35 55 0 0 0.005524 0 0 BCORL1 63035 broad.mit.edu 37 X 129155073 129155073 + Silent SNP G G A rs61754128 TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chrX:129155073G>A uc004evb.1 + 5 3669 c.3555G>A c.(3553-3555)CCG>CCA p.P1185P BCORL1_uc010nrd.1_Silent_p.P1087P NM_021946 NP_068765 Q5H9F3 BCORL_HUMAN BCL6 co-repressor-like 1 1185 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus ovary(4)|breast(2)|lung(1) 7 ACCGGAAGCCGACAAAGCCGG 0.627 NA 16 36 0 0 0.00499 0 0 BCORL1 63035 broad.mit.edu 37 X 129185893 129185893 + Missense_Mutation SNP A A T TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chrX:129185893A>T uc004evb.1 + 12 4869 c.4755A>T c.(4753-4755)CAA>CAT p.Q1585H BCORL1_uc004evc.1_Missense_Mutation_p.Q421H NM_021946 NP_068765 Q5H9F3 BCORL_HUMAN BCL6 co-repressor-like 1 1585 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus ovary(4)|breast(2)|lung(1) 7 GCTCAGATCAAGAAGGAGACG 0.498 NA 60 117 0 0 0.00361 0 0 ARHGAP36 158763 broad.mit.edu 37 X 130215645 130215645 + Silent SNP T T C TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chrX:130215645T>C uc004evz.2 + 2 351 c.6T>C c.(4-6)GGT>GGC p.G2G ARHGAP36_uc004ewa.2_Intron|ARHGAP36_uc004ewb.2_Intron|ARHGAP36_uc004ewc.2_5'Flank NM_144967 NP_659404 Q6ZRI8 RHG36_HUMAN hypothetical protein LOC158763 precursor 2 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity ovary(3) 3 CCAGAATGGGTGGCTGCATTC 0.517 NA 35 47 0 0 0.003755 0 0 SLC9A6 10479 broad.mit.edu 37 X 135095150 135095150 + Missense_Mutation SNP A A G TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chrX:135095150A>G uc004ezj.2 + 8 1064 c.988A>G c.(988-990)ACA>GCA p.T330A SLC9A6_uc004ezk.2_Missense_Mutation_p.T362A NM_006359 NP_006350 Q92581 SL9A6_HUMAN solute carrier family 9 (sodium/hydrogen 330 regulation of pH early endosome membrane|endoplasmic reticulum membrane|integral to membrane|microsome|plasma membrane|recycling endosome membrane sodium:hydrogen antiporter activity ovary(1) 1 Acute lymphoblastic leukemia(192;0.000127) GTTGTTGGAGACAGGCCTGTT 0.438 NA 72 134 0 0 0.00361 0 0 SLITRK2 84631 broad.mit.edu 37 X 144904663 144904663 + Silent SNP G G A TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chrX:144904663G>A uc004fcd.2 + 5 1710 c.720G>A c.(718-720)GAG>GAA p.E240E SLITRK2_uc010nsp.2_Silent_p.E240E|SLITRK2_uc010nso.2_Silent_p.E240E|SLITRK2_uc011mwq.1_Silent_p.E240E|SLITRK2_uc011mwr.1_Silent_p.E240E|SLITRK2_uc011mws.1_Silent_p.E240E|SLITRK2_uc004fcg.2_Silent_p.E240E|SLITRK2_uc011mwt.1_Silent_p.E240E NM_032539 NP_115928 Q9H156 SLIK2_HUMAN SLIT and NTRK-like family, member 2 precursor 240 Extracellular (Potential).|LRRCT 1. integral to membrane ovary(5)|central_nervous_system(1)|pancreas(1) 7 Acute lymphoblastic leukemia(192;6.56e-05) TTGTGGGAGAGATTGTCTGTG 0.488 NA 42 85 0 0 0.006999 0 0 SLITRK2 84631 broad.mit.edu 37 X 144905810 144905810 + Missense_Mutation SNP C C G TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chrX:144905810C>G uc004fcd.2 + 5 2857 c.1867C>G c.(1867-1869)CTG>GTG p.L623V SLITRK2_uc010nsp.2_Missense_Mutation_p.L623V|SLITRK2_uc010nso.2_Missense_Mutation_p.L623V|SLITRK2_uc011mwq.1_Missense_Mutation_p.L623V|SLITRK2_uc011mwr.1_Missense_Mutation_p.L623V|SLITRK2_uc011mws.1_Missense_Mutation_p.L623V|SLITRK2_uc004fcg.2_Missense_Mutation_p.L623V|SLITRK2_uc011mwt.1_Missense_Mutation_p.L623V NM_032539 NP_115928 Q9H156 SLIK2_HUMAN SLIT and NTRK-like family, member 2 precursor 623 Helical; (Potential). integral to membrane ovary(5)|central_nervous_system(1)|pancreas(1) 7 Acute lymphoblastic leukemia(192;6.56e-05) TGTCTTAATTCTGGGATTGCT 0.453 NA 42 62 0 0 0.007835 0 0 TMEM79 84283 broad.mit.edu 37 1 156255576 156255576 + Frame_Shift_Del DEL G G - TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr1:156255576delG uc010phi.1 + 2 755 c.559delG c.(559-561)GGGfs p.G187fs SMG5_uc001foc.3_5'Flank|TMEM79_uc001fod.2_Frame_Shift_Del_p.G28fs|TMEM79_uc009wrw.2_Frame_Shift_Del_p.G187fs NM_032323 NP_115699 Q9BSE2 TMM79_HUMAN transmembrane protein 79 187 integral to membrane central_nervous_system(1) 1 Hepatocellular(266;0.158) CTGTTCCTGTGGGGGCTGCGG 0.667 NA 36 90 --- --- --- --- NA NA NA NA NA TP53AIP1 63970 broad.mit.edu 37 11 128807581 128807582 + Frame_Shift_Del DEL GT GT - TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 GT GT - - GT GT Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr11:128807581_128807582delGT uc001qey.2 - 2 342_343 c.132_133delAC c.(130-135)ACACCTfs p.T44fs TP53AIP1_uc001qex.2_Frame_Shift_Del_p.T44fs|TP53AIP1_uc009zcm.1_RNA Q9HCN2 TPIP1_HUMAN RecName: Full=p53-regulated apoptosis-inducing protein 1; Short=p53AIP1; 44_45 apoptosis mitochondrion lung(1) 1 ACCCAGCCAGGTGTGTGTGTCT 0.624 NA 8 58 --- --- --- --- NA NA NA NA NA CNTN3 5067 broad.mit.edu 37 3 74411066 74411066 + Frame_Shift_Del DEL C C - TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr3:74411066delC uc003dpm.1 - 10 1419 c.1339delG c.(1339-1341)GATfs p.D447fs NM_020872 NP_065923 Q9P232 CNTN3_HUMAN contactin 3 precursor 447 Ig-like C2-type 5. 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) ACGCTCACATCCCCCTTCTTC 0.473 NA 17 69 --- --- --- --- NA NA NA NA NA TRERF1 55809 broad.mit.edu 37 6 42196333 42196333 + Frame_Shift_Del DEL T T - TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr6:42196333delT uc003osd.2 - 18 3916 c.3353delA c.(3352-3354)AAGfs p.K1118fs TRERF1_uc011duq.1_Frame_Shift_Del_p.K1035fs|TRERF1_uc003osb.2_Frame_Shift_Del_p.K886fs|TRERF1_uc003osc.2_Frame_Shift_Del_p.K874fs|TRERF1_uc003ose.2_Frame_Shift_Del_p.K1138fs NM_033502 NP_277037 Q96PN7 TREF1_HUMAN transcriptional regulating factor 1 1118 Interacts with CREBBP. cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process nucleus DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding ovary(3)|pancreas(1)|skin(1) 5 Colorectal(47;0.196) Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152) CTTCTGAGCCTTTTGCCTCTG 0.542 NA 8 2246 --- --- --- --- NA NA NA NA NA ZNF318 24149 broad.mit.edu 37 6 43305681 43305681 + Frame_Shift_Del DEL C C - TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr6:43305681delC uc003oux.2 - 10 6133 c.6055delG c.(6055-6057)GATfs p.D2019fs ZNF318_uc003ouw.2_Intron NM_014345 NP_055160 Q5VUA4 ZN318_HUMAN zinc finger protein 318 2019 meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus nucleic acid binding|zinc ion binding ovary(3)|breast(2)|central_nervous_system(1)|skin(1) 7 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579) ACAGGCATATCCCCCAGATTC 0.458 NA 38 60 --- --- --- --- NA NA NA NA NA CNR1 1268 broad.mit.edu 37 6 88853971 88853971 + Frame_Shift_Del DEL T T - TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr6:88853971delT uc011dzq.1 - 2 4586 c.1023delA c.(1021-1023)TTAfs p.L341fs CNR1_uc010kbz.2_Frame_Shift_Del_p.L341fs|CNR1_uc011dzr.1_Frame_Shift_Del_p.L341fs|CNR1_uc011dzs.1_Frame_Shift_Del_p.L341fs|CNR1_uc003pmq.3_Frame_Shift_Del_p.L341fs|CNR1_uc011dzt.1_Frame_Shift_Del_p.L341fs|CNR1_uc010kca.2_Frame_Shift_Del_p.L308fs NM_001160260 NP_001153732 P21554 CNR1_HUMAN cannabinoid receptor 1 isoform a 341 Cytoplasmic (Potential). G-protein signaling, coupled to cAMP nucleotide second messenger integral to plasma membrane cannabinoid receptor activity|protein binding skin(2) 2 all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011) BRCA - Breast invasive adenocarcinoma(108;0.15) Marinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155) GGGTCTTGGCTAACCTAATGT 0.537 NA 28 79 --- --- --- --- NA NA NA NA NA AKAP9 10142 broad.mit.edu 37 7 91632378 91632378 + Frame_Shift_Del DEL G G - TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e8e2a385-20ef-48bf-a802-11a6a75f0d06 264c83bc-2e97-4cc6-8a96-d96db0bbf9c3 g.chr7:91632378delG uc003ulg.2 + 8 3372 c.3147delG c.(3145-3147)ATGfs p.M1049fs AKAP9_uc003ule.2_Frame_Shift_Del_p.M1061fs|AKAP9_uc003ulf.2_Frame_Shift_Del_p.M1049fs|AKAP9_uc003uli.2_Frame_Shift_Del_p.M674fs NM_005751 NP_005742 Q99996 AKAP9_HUMAN A-kinase anchor protein 9 isoform 2 1061 G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport centrosome|cytosol|Golgi apparatus receptor binding breast(7)|ovary(6)|lung(5)|skin(3)|large_intestine(2)|prostate(2)|central_nervous_system(1) 26 all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) CAAAAATAATGGTGGAAGATA 0.338 NA T BRAF papillary thyroid 22 29 --- --- --- --- NA NA NA NA NA