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 MIB2 142678 broad.mit.edu 37 1 1562553 1562554 + Missense_Mutation DNP GG GG TT TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 GG GG - - GG GG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr1:1562553_1562554GG>TT uc001agg.2 + 11 1641_1642 c.1514_1515GG>TT c.(1513-1515)CGG>CTT p.R505L MIB2_uc001agh.2_Missense_Mutation_p.R491L|MIB2_uc001agi.2_Missense_Mutation_p.R501L|MIB2_uc001agj.2_Missense_Mutation_p.R346L|MIB2_uc001agk.2_Missense_Mutation_p.R440L|MIB2_uc001agl.1_Missense_Mutation_p.R461L|MIB2_uc001agm.2_Missense_Mutation_p.R382L|MIB2_uc010nyq.1_Missense_Mutation_p.R461L|MIB2_uc009vkh.2_Missense_Mutation_p.R311L|MIB2_uc001agn.2_Missense_Mutation_p.R137L|MIB2_uc001ago.2_5'Flank NM_080875 NP_543151 Q96AX9 MIB2_HUMAN mindbomb homolog 2 505 Notch signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade endosome actin binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding 0 all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217) Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199) AACGCAGCCCGGGCTCTGGACC 0.683 NA 13 9 0 0 0.004672 0 0 LRRC47 57470 broad.mit.edu 37 1 3703627 3703627 + Missense_Mutation SNP T T A TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr1:3703627T>A uc001akx.1 - 2 891 c.863A>T c.(862-864)AAG>ATG p.K288M NM_020710 NP_065761 Q8N1G4 LRC47_HUMAN leucine rich repeat containing 47 288 translation phenylalanine-tRNA ligase activity|RNA binding large_intestine(1)|ovary(1) 2 all_cancers(77;0.0375)|Ovarian(185;0.0634)|all_lung(157;0.208)|Lung NSC(156;0.21) all_epithelial(116;1.34e-16)|all_lung(118;2.53e-06)|Lung NSC(185;0.00028)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.0743)|Ovarian(437;0.127) Epithelial(90;5.49e-39)|OV - Ovarian serous cystadenocarcinoma(86;1.43e-22)|GBM - Glioblastoma multiforme(42;3.69e-16)|Colorectal(212;1.21e-05)|COAD - Colon adenocarcinoma(227;5.87e-05)|Kidney(185;0.000367)|BRCA - Breast invasive adenocarcinoma(365;0.000704)|KIRC - Kidney renal clear cell carcinoma(229;0.00567)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.124) ccgcctctgcttcctctccct 0.408 NA 6 50 0 0 0.001984 0 0 PRDM2 7799 broad.mit.edu 37 1 14106677 14106677 + Missense_Mutation SNP G G T TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr1:14106677G>T uc001avi.2 + 8 3243 c.2387G>T c.(2386-2388)AGC>ATC p.S796I PRDM2_uc001avg.2_Intron|PRDM2_uc001avh.2_Missense_Mutation_p.S796I|PRDM2_uc001avj.2_Intron|PRDM2_uc009vod.1_Missense_Mutation_p.S553I|PRDM2_uc001avk.2_Missense_Mutation_p.S595I|PRDM2_uc009voe.2_Intron|PRDM2_uc009vof.2_Intron NM_012231 NP_036363 Q13029 PRDM2_HUMAN retinoblastoma protein-binding zinc finger 796 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) GAAACTGTGAGCCCTCCATGC 0.468 NA 54 66 9.72345e-25 1.62853e-24 0.00361 1 0 PADI1 29943 broad.mit.edu 37 1 17548865 17548865 + Missense_Mutation SNP G G A rs141255010 by1000genomes TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr1:17548865G>A uc001bah.1 + 2 265 c.173G>A c.(172-174)CGT>CAT p.R58H NM_013358 NP_037490 Q9ULC6 PADI1_HUMAN peptidylarginine deiminase type I 58 peptidyl-citrulline biosynthetic process from peptidyl-arginine cytoplasm calcium ion binding|protein-arginine deiminase activity 0 Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00522)|BRCA - Breast invasive adenocarcinoma(304;1.3e-05)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(196;0.0069)|READ - Rectum adenocarcinoma(331;0.0681)|Lung(427;0.197) L-Citrulline(DB00155) AACCGCACACGTGTGAAAGAG 0.552 Esophageal Squamous(80;414 1257 4580 27746 50832) NA 6 214 0 0 0.001168 0 0 AKR7L 246181 broad.mit.edu 37 1 19595787 19595787 + Missense_Mutation SNP C C G TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr1:19595787C>G uc010ocx.1 - 6 683 c.683G>C c.(682-684)TGG>TCG p.W228S AKR7L_uc010ocy.1_Intron NM_201252 NP_957704 aflatoxin B1 aldehyde reductase 3 isoform 1 0 GATCTCTGCCCACTGAGTCCC 0.587 NA 6 63 0 0 0.001168 0 0 KIF17 57576 broad.mit.edu 37 1 21014281 21014281 + Missense_Mutation SNP G G A TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr1:21014281G>A uc001bdr.3 - 8 1656 c.1538C>T c.(1537-1539)TCC>TTC p.S513F KIF17_uc001bdp.3_5'Flank|KIF17_uc001bdq.3_5'Flank|KIF17_uc009vpx.2_Intron|KIF17_uc001bds.3_Missense_Mutation_p.S513F NM_020816 NP_065867 Q9P2E2 KIF17_HUMAN kinesin family member 17 isoform a 513 microtubule-based movement|protein transport cytoplasm|microtubule ATP binding ovary(3)|skin(1) 4 all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209) CTGAGTCTTGGAGACATCGTC 0.542 NA 24 190 0 0 0.00333 0 0 EPHA8 2046 broad.mit.edu 37 1 22903323 22903323 + Missense_Mutation SNP G G T TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr1:22903323G>T uc001bfx.1 + 3 898 c.773G>T c.(772-774)GGC>GTC p.G258V EPHA8_uc001bfw.2_Missense_Mutation_p.G258V NM_020526 NP_065387 P29322 EPHA8_HUMAN ephrin receptor EphA8 isoform 1 precursor 258 Extracellular (Potential).|Cys-rich. integral to plasma membrane ATP binding|ephrin receptor activity central_nervous_system(5)|breast(3)|lung(2)|large_intestine(1)|stomach(1)|skin(1) 13 Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199) GTGCCCATCGGCAAATGCGTG 0.682 NA 9 47 0.000442599 0.000475707 0.006214 1 0 ATPIF1 93974 broad.mit.edu 37 1 28564412 28564412 + Missense_Mutation SNP A A C TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr1:28564412A>C uc001bpq.2 + 3 328 c.244A>C c.(244-246)AAG>CAG p.K82Q ATPIF1_uc001bpp.2_3'UTR|ATPIF1_uc001bpr.2_3'UTR NM_016311 NP_057395 Q9UII2 ATIF1_HUMAN ATPase inhibitory factor 1 isoform 1 precursor 82 Potential. angiogenesis|generation of precursor metabolites and energy|negative regulation of endothelial cell proliferation|negative regulation of hydrolase activity|negative regulation of nucleotide metabolic process|protein homotetramerization cell surface|mitochondrion angiostatin binding|ATPase binding|ATPase inhibitor activity|calmodulin binding|protein homodimerization activity 0 Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;4.76e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261) OV - Ovarian serous cystadenocarcinoma(117;2.36e-22)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|BRCA - Breast invasive adenocarcinoma(304;0.00574)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0649) CGTTCATCATAAGAAGGAGAT 0.408 NA 28 49 0 0 0.004656 0 0 ATPIF1 93974 broad.mit.edu 37 1 28564414 28564414 + Missense_Mutation SNP G G T TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr1:28564414G>T uc001bpq.2 + 3 330 c.246G>T c.(244-246)AAG>AAT p.K82N ATPIF1_uc001bpp.2_3'UTR|ATPIF1_uc001bpr.2_3'UTR NM_016311 NP_057395 Q9UII2 ATIF1_HUMAN ATPase inhibitory factor 1 isoform 1 precursor 82 Potential. angiogenesis|generation of precursor metabolites and energy|negative regulation of endothelial cell proliferation|negative regulation of hydrolase activity|negative regulation of nucleotide metabolic process|protein homotetramerization cell surface|mitochondrion angiostatin binding|ATPase binding|ATPase inhibitor activity|calmodulin binding|protein homodimerization activity 0 Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;4.76e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261) OV - Ovarian serous cystadenocarcinoma(117;2.36e-22)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|BRCA - Breast invasive adenocarcinoma(304;0.00574)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0649) TTCATCATAAGAAGGAGATTG 0.418 NA 26 49 1.64293e-13 2.36686e-13 0.00333 1 0 KIAA0494 9813 broad.mit.edu 37 1 47131032 47131032 + Missense_Mutation SNP C C A TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr1:47131032C>A uc010omh.1 - 10 2102 c.1125G>T c.(1123-1125)CAG>CAT p.Q375H ATPAF1_uc001cqg.2_5'UTR|ATPAF1_uc009vyk.2_5'UTR|ATPAF1_uc010omg.1_Missense_Mutation_p.D3Y|ATPAF1_uc001cqh.2_Missense_Mutation_p.D91Y|ATPAF1_uc001cqi.2_Missense_Mutation_p.D91Y NM_014774 NP_055589 O75071 K0494_HUMAN hypothetical protein LOC9813 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment calcium ion binding 0 Acute lymphoblastic leukemia(166;0.155) GCAGCTGGGTCTGACCTGATC 0.378 NA 7 67 8.12818e-05 8.96563e-05 0.001984 1 0 SLC5A9 200010 broad.mit.edu 37 1 48694626 48694626 + Silent SNP C C T TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr1:48694626C>T uc001cro.2 + 3 391 c.339C>T c.(337-339)AAC>AAT p.N113N SLC5A9_uc010oms.1_RNA|SLC5A9_uc001crn.2_Silent_p.N113N|SLC5A9_uc010omt.1_Silent_p.N106N|SLC5A9_uc001crp.2_Translation_Start_Site|SLC5A9_uc010omu.1_Translation_Start_Site NM_001011547 NP_001011547 Q2M3M2 SC5A9_HUMAN solute carrier family 5 (sodium/glucose 113 Extracellular (Potential). integral to membrane|plasma membrane low-affinity glucose:sodium symporter activity ovary(3) 3 TCGAGTGGAACGTAAGGAAGC 0.582 NA 10 145 0 0 0.006214 0 0 IL12RB2 3595 broad.mit.edu 37 1 67833708 67833708 + Nonsense_Mutation SNP G G T TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr1:67833708G>T uc001ddu.2 + 10 2099 c.1459G>T c.(1459-1461)GAG>TAG p.E487* IL12RB2_uc010oqi.1_Nonsense_Mutation_p.E487*|IL12RB2_uc010oqj.1_Nonsense_Mutation_p.E487*|IL12RB2_uc010oqk.1_RNA|IL12RB2_uc010oql.1_Nonsense_Mutation_p.E487*|IL12RB2_uc010oqm.1_Nonsense_Mutation_p.E487*|IL12RB2_uc010oqn.1_RNA NM_001559 NP_001550 Q99665 I12R2_HUMAN interleukin 12 receptor, beta 2 precursor 487 Fibronectin type-III 4.|Extracellular (Potential). positive regulation of cell proliferation|positive regulation of interferon-gamma production integral to plasma membrane cytokine receptor activity ovary(2)|central_nervous_system(1) 3 TCTGATTTCAGGTACCTAATT 0.502 NA 20 99 8.34094e-07 9.83618e-07 0.008871 1 0 FUBP1 8880 broad.mit.edu 37 1 78422351 78422351 + Missense_Mutation SNP C C A TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr1:78422351C>A uc001dii.2 - 17 1700 c.1611G>T c.(1609-1611)TGG>TGT p.W537C FUBP1_uc001dih.3_RNA|FUBP1_uc010orm.1_Missense_Mutation_p.W558C NM_003902 NP_003893 Q96AE4 FUBP1_HUMAN far upstream element-binding protein 537 Pro-rich. transcription from RNA polymerase II promoter nucleus protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding central_nervous_system(2)|lung(1) 3 AATAAGCAGCCCAAGCTGCTG 0.453 NA 19 110 6.94344e-10 9.02648e-10 0.006122 1 0 ZNF326 284695 broad.mit.edu 37 1 90470716 90470716 + Missense_Mutation SNP G G T TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr1:90470716G>T uc001dnq.2 + 4 261 c.122G>T c.(121-123)GGA>GTA p.G41V ZNF326_uc001dnp.3_Missense_Mutation_p.G41V|ZNF326_uc009wda.1_Missense_Mutation_p.G41V|ZNF326_uc001dnr.2_Intron NM_182976 NP_892021 Q5BKZ1 ZN326_HUMAN zinc finger protein 326 isoform 1 41 Mediates transcriptional activation (By similarity).|Gly-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear matrix DNA binding ovary(1) 1 all_lung(203;0.0116)|Lung NSC(277;0.0417) all cancers(265;0.00728)|Epithelial(280;0.0265) TATGGCCATGGATCCTATGGG 0.408 NA 58 96 1.4709e-25 2.49413e-25 0.00361 1 0 KCNA2 3737 broad.mit.edu 37 1 111146880 111146880 + Silent SNP G G T TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr1:111146880G>T uc001dzu.2 - 2 1021 c.525C>A c.(523-525)ATC>ATA p.I175I KCNA2_uc009wfv.1_Silent_p.I175I|KCNA2_uc009wfw.2_Silent_p.I175I NM_004974 NP_004965 P16389 KCNA2_HUMAN potassium voltage-gated channel, shaker-related 175 Helical; Name=Segment S1; (Potential). juxtaparanode region of axon|voltage-gated potassium channel complex delayed rectifier potassium channel activity ovary(1) 1 all_cancers(81;5.55e-06)|all_epithelial(167;1.87e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398) Colorectal(144;0.00878)|Lung(183;0.0234)|all cancers(265;0.0492)|Epithelial(280;0.0529)|COAD - Colon adenocarcinoma(174;0.131)|LUSC - Lung squamous cell carcinoma(189;0.133)|READ - Rectum adenocarcinoma(129;0.191) TGACAATTGAGATCAGAATCA 0.463 Pancreas(18;568 735 10587 23710 36357) NA 58 74 4.96213e-28 8.65599e-28 0.00361 1 0 CTTNBP2NL 55917 broad.mit.edu 37 1 112999276 112999276 + Nonsense_Mutation SNP G G T TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr1:112999276G>T uc001ebx.2 + 6 1390 c.1162G>T c.(1162-1164)GAG>TAG p.E388* CTTNBP2NL_uc001ebz.2_5'Flank NM_018704 NP_061174 Q9P2B4 CT2NL_HUMAN CTTNBP2 N-terminal like 388 actin cytoskeleton protein binding central_nervous_system(2)|ovary(1) 3 all_cancers(81;0.00064)|all_epithelial(167;0.000415)|all_lung(203;0.00045)|Lung NSC(69;0.000705) Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) GAAACCAGTGGAGAATGGTGG 0.552 NA 116 182 3.69185e-53 7.4935e-53 0.00361 1 0 PIAS3 10401 broad.mit.edu 37 1 145578690 145578690 + Missense_Mutation SNP C C T TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr1:145578690C>T uc001eoc.1 + 3 587 c.496C>T c.(496-498)CCC>TCC p.P166S NBPF10_uc001emp.3_Intron|PIAS3_uc010oyy.1_Missense_Mutation_p.P157S|PIAS3_uc001eod.1_5'Flank NM_006099 NP_006090 Q9Y6X2 PIAS3_HUMAN protein inhibitor of activated STAT, 3 166 PINIT. positive regulation of protein sumoylation|protein sumoylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear speck enzyme binding|nucleic acid binding|protein C-terminus binding|zinc ion binding ovary(1) 1 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) TGCCCTCACACCCCAGCAAGT 0.363 NA 23 186 0 0 0.00278 0 0 SELENBP1 8991 broad.mit.edu 37 1 151338093 151338093 + Silent SNP C C A TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr1:151338093C>A uc001exx.2 - 9 1037 c.990G>T c.(988-990)GGG>GGT p.G330G SELENBP1_uc010pcy.1_Silent_p.G372G|SELENBP1_uc001exy.2_Silent_p.G227G|SELENBP1_uc001exz.2_Silent_p.G227G|SELENBP1_uc010pcz.1_Silent_p.G268G|SELENBP1_uc009wms.2_Silent_p.G166G|SELENBP1_uc009wmt.2_Silent_p.G227G|SELENBP1_uc001eya.2_Silent_p.G266G|SELENBP1_uc009wmu.2_Silent_p.G227G NM_003944 NP_003935 Q13228 SBP1_HUMAN selenium binding protein 1 330 protein transport cytosol|membrane|nucleolus protein binding|selenium binding 0 Lung SC(34;0.00471)|Ovarian(49;0.00871)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181) GCCTCAGGTCCCCATGCAGCC 0.592 NA 159 210 1.56066e-67 3.20347e-67 0.00361 1 0 TCHHL1 126637 broad.mit.edu 37 1 152058156 152058156 + Silent SNP G G A TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr1:152058156G>A uc001ezo.1 - 3 2067 c.2002C>T c.(2002-2004)CTG>TTG p.L668L NM_001008536 NP_001008536 Q5QJ38 TCHL1_HUMAN trichohyalin-like 1 668 calcium ion binding ovary(1)|skin(1) 2 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.246) TCTATTTCCAGGGACTTTCTA 0.507 NA 53 293 0 0 0.00361 0 0 FLG2 388698 broad.mit.edu 37 1 152323916 152323916 + Missense_Mutation SNP C C A TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr1:152323916C>A uc001ezw.3 - 3 6419 c.6346G>T c.(6346-6348)GGG>TGG p.G2116W uc001ezv.2_Intron NM_001014342 NP_001014364 Q5D862 FILA2_HUMAN filaggrin family member 2 2116 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) TGTGAGACCCCTGAGTGCACT 0.532 NA 123 664 3.58676e-45 7.09555e-45 0.00361 1 0 PGLYRP4 57115 broad.mit.edu 37 1 153312856 153312856 + Splice_Site SNP C C A TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr1:153312856C>A uc001fbo.2 - 7 889 c.824_splice c.e7+1 p.N275_splice PGLYRP4_uc001fbp.2_Splice_Site_p.N271_splice NM_020393 NP_065126 Q96LB8 PGRP4_HUMAN peptidoglycan recognition protein-I-beta defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process extracellular region|intracellular|membrane N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding ovary(3)|skin(1) 4 all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.171) GACCCACTCACTTATAACCAA 0.512 NA 56 80 1.53716e-24 2.56663e-24 0.00361 1 0 S100A7 6278 broad.mit.edu 37 1 153430349 153430349 + Missense_Mutation SNP C C A TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr1:153430349C>A uc001fbv.1 - 3 310 c.239G>T c.(238-240)GGA>GTA p.G80V NM_002963 NP_002954 P31151 S10A7_HUMAN S100 calcium binding protein A7 80 EF-hand 2. angiogenesis|defense response to Gram-negative bacterium|innate immune response|keratinocyte differentiation|positive regulation of ERK1 and ERK2 cascade|positive regulation of granulocyte chemotaxis|positive regulation of monocyte chemotaxis|positive regulation of T cell chemotaxis|response to lipopolysaccharide|response to reactive oxygen species|sequestering of metal ion cytosol|endoplasmic reticulum|extracellular region|focal adhesion|nucleus calcium ion binding|RAGE receptor binding|zinc ion binding skin(1) 1 all_lung(78;2.4e-33)|Lung NSC(65;8.13e-32)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.171) GGCTATGTCTCCCAGCAAGGA 0.527 NA 25 136 1.1804e-14 1.73252e-14 0.003954 1 0 FCRL2 79368 broad.mit.edu 37 1 157737060 157737060 + Missense_Mutation SNP C C A TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr1:157737060C>A uc001fre.2 - 6 1182 c.1123G>T c.(1123-1125)GGG>TGG p.G375W FCRL2_uc001frd.2_Missense_Mutation_p.G122W|FCRL2_uc010phz.1_Missense_Mutation_p.G375W|FCRL2_uc009wsp.2_Intron NM_030764 NP_110391 Q96LA5 FCRL2_HUMAN Fc receptor-like 2 precursor 375 Ig-like C2-type 4.|Extracellular (Potential). cell-cell signaling integral to membrane|plasma membrane|soluble fraction receptor activity|SH3/SH2 adaptor activity ovary(1)|pancreas(1) 2 all_hematologic(112;0.0378) LUSC - Lung squamous cell carcinoma(543;0.24) CACTGGGCCCCCAGGCCGTTG 0.577 NA 82 97 4.78148e-37 9.16032e-37 0.00361 1 0 OR10T2 128360 broad.mit.edu 37 1 158368914 158368914 + Missense_Mutation SNP G G T TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr1:158368914G>T uc010pih.1 - 1 343 c.343C>A c.(343-345)CTC>ATC p.L115I NM_001004475 NP_001004475 Q8NGX3 O10T2_HUMAN olfactory receptor, family 10, subfamily T, 115 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|central_nervous_system(1) 3 all_hematologic(112;0.0378) ACAGCAATGAGGAGGCAGTTG 0.498 NA 16 139 0.000566183 0.00060734 0.00499 1 0 OR10K2 391107 broad.mit.edu 37 1 158390454 158390454 + Missense_Mutation SNP C C A TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr1:158390454C>A uc010pii.1 - 1 203 c.203G>T c.(202-204)TGC>TTC p.C68F NM_001004476 NP_001004476 Q6IF99 O10K2_HUMAN olfactory receptor, family 10, subfamily K, 68 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity pancreas(1) 1 all_hematologic(112;0.0378) AATCTCAGAGCAAGAGAGGAT 0.488 NA 23 205 3.08376e-08 3.80935e-08 0.00333 1 0 OR10R2 343406 broad.mit.edu 37 1 158450337 158450337 + Missense_Mutation SNP G G T TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr1:158450337G>T uc010pik.1 + 1 670 c.670G>T c.(670-672)GTT>TTT p.V224F uc001fso.1_RNA NM_001004472 NP_001004472 Q8NGX6 O10R2_HUMAN olfactory receptor, family 10, subfamily R, 224 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity pancreas(2)|skin(1) 3 all_hematologic(112;0.0378) CATTTGTGGAGTTCTTGTACT 0.423 NA 76 142 1.26005e-42 2.46591e-42 0.00361 1 0 SPTA1 6708 broad.mit.edu 37 1 158607828 158607828 + Missense_Mutation SNP C C A TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr1:158607828C>A uc001fst.1 - 36 5383 c.5184G>T c.(5182-5184)TGG>TGT p.W1728C NM_003126 NP_003117 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 1728 Spectrin 17. actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1) 8 all_hematologic(112;0.0378) CATACTCTATCCAGGATTCCT 0.408 NA 80 163 8.40228e-50 1.68663e-49 0.00361 1 0 SPTA1 6708 broad.mit.edu 37 1 158617395 158617395 + Missense_Mutation SNP C C A TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr1:158617395C>A uc001fst.1 - 27 4029 c.3830G>T c.(3829-3831)CGT>CTT p.R1277L NM_003126 NP_003117 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 1277 Spectrin 12. actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1) 8 all_hematologic(112;0.0378) ATCCTTTGTACGCCCCTGCAG 0.557 NA 34 176 1.45844e-13 2.10663e-13 0.002836 1 0 OR6K2 81448 broad.mit.edu 37 1 158669653 158669653 + Missense_Mutation SNP A A G TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr1:158669653A>G uc001fsu.1 - 1 790 c.790T>C c.(790-792)TCT>CCT p.S264P NM_001005279 NP_001005279 Q8NGY2 OR6K2_HUMAN olfactory receptor, family 6, subfamily K, 264 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity pancreas(1) 1 all_hematologic(112;0.0378) TAGGTGGCAGAGAAGCGTAGG 0.478 NA 33 43 0 0 0.010818 0 0 OR6K3 391114 broad.mit.edu 37 1 158687606 158687606 + Missense_Mutation SNP C C A TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr1:158687606C>A uc010pip.1 - 1 348 c.348G>T c.(346-348)CAG>CAT p.Q116H NM_001005327 NP_001005327 Q8NGY3 OR6K3_HUMAN olfactory receptor, family 6, subfamily K, 116 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|kidney(1)|central_nervous_system(1) 3 all_hematologic(112;0.0378) AGAAATACATCTGCAAGATGC 0.483 NA 39 260 1.69901e-12 2.39705e-12 0.005524 1 0 CCDC19 25790 broad.mit.edu 37 1 159857673 159857673 + Missense_Mutation SNP C C A TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr1:159857673C>A uc001fui.2 - 5 564 c.546G>T c.(544-546)AAG>AAT p.K182N CCDC19_uc009wtb.2_RNA|CCDC19_uc001fuj.2_RNA|CCDC19_uc001fuk.2_Missense_Mutation_p.K97N|CCDC19_uc001ful.2_Missense_Mutation_p.K97N|CCDC19_uc009wtc.1_Missense_Mutation_p.K182N NM_012337 NP_036469 Q9UL16 CCD19_HUMAN nasopharyngeal epithelium specific protein 1 182 Potential. mitochondrion|soluble fraction ovary(1) 1 all_hematologic(112;0.0597) BRCA - Breast invasive adenocarcinoma(70;0.151) CCATCCGCAGCTTGTTGGCTC 0.582 NA 56 350 2.12129e-23 3.50976e-23 0.00361 1 0 USP21 27005 broad.mit.edu 37 1 161130698 161130698 + Silent SNP C C T TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr1:161130698C>T uc010pke.1 + 3 645 c.268C>T c.(268-270)CTG>TTG p.L90L USP21_uc010pkc.1_Silent_p.L90L|USP21_uc010pkd.1_Silent_p.L90L|USP21_uc010pkf.1_Silent_p.L90L NM_001014443 NP_001014443 Q9UK80 UBP21_HUMAN ubiquitin-specific protease 21 90 histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process nucleus metal ion binding|NEDD8-specific protease activity|protein binding|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity ovary(2)|lung(1)|prostate(1)|breast(1) 5 all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00275) TGGGGTTCCCCTGCCTGGCTC 0.622 NA 13 89 0 0 0.001368 0 0 HSPA6 3310 broad.mit.edu 37 1 161496061 161496061 + Missense_Mutation SNP T T A TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr1:161496061T>A uc001gap.2 + 2 2273 c.1613T>A c.(1612-1614)GTG>GAG p.V538E HSPA6_uc001gaq.2_Missense_Mutation_p.V538E NM_002155 NP_002146 P17066 HSP76_HUMAN heat shock 70kDa protein 6 (HSP70B') 538 response to unfolded protein ATP binding skin(1) 1 all_cancers(52;4.89e-16)|all_hematologic(112;0.0207) BRCA - Breast invasive adenocarcinoma(70;0.00376) AGGGACAGAGTGGCTGCCAAA 0.547 NA 9 30 0 0 0.008291 0 0 MYOC 4653 broad.mit.edu 37 1 171605172 171605172 + Missense_Mutation SNP G G A TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr1:171605172G>A uc001ghu.2 - 3 1430 c.1408C>T c.(1408-1410)CGC>TGC p.R470C MYOC_uc010pmk.1_Missense_Mutation_p.R412C NM_000261 NP_000252 Q99972 MYOC_HUMAN myocilin precursor 470 Olfactomedin-like. R -> C (in GLC1A).|R -> H. anatomical structure morphogenesis cilium|extracellular space|rough endoplasmic reticulum structural molecule activity lung(1) 1 all_cancers(6;5.47e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181) TACTTATAGCGGTTCTTGAAT 0.488 NA 25 168 0 0 0.003954 0 0 RASAL2 9462 broad.mit.edu 37 1 178252788 178252789 + Missense_Mutation DNP AC AC TT TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 AC AC - - AC AC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr1:178252788_178252789AC>TT uc001glq.2 + 2 1056_1057 c.292_293AC>TT c.(292-294)ACA>TTA p.T98L RASAL2_uc009wxb.2_Missense_Mutation_p.T98L NM_170692 NP_733793 Q9UJF2 NGAP_HUMAN RAS protein activator like 2 isoform 2 Error:Variant_position_missing_in_Q9UJF2_after_alignment negative regulation of Ras protein signal transduction|signal transduction cytoplasm|intrinsic to internal side of plasma membrane Ras GTPase activator activity ovary(2)|breast(2)|large_intestine(1) 5 TTGCATCCTCACAGACAGCCAG 0.46 NA 22 200 0 0 0.004672 0 0 LAMC1 3915 broad.mit.edu 37 1 183091312 183091312 + Missense_Mutation SNP C C A TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr1:183091312C>A uc001gpy.3 + 13 2584 c.2327C>A c.(2326-2328)CCT>CAT p.P776H NM_002293 NP_002284 P11047 LAMC1_HUMAN laminin, gamma 1 precursor 776 Laminin EGF-like 7. axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex extracellular matrix structural constituent ovary(3)|large_intestine(1)|kidney(1) 5 Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) TGTCCGTGTCCTGGAGGTTCA 0.537 NA 27 151 1.42536e-11 1.94561e-11 0.004656 1 0 CFH 3075 broad.mit.edu 37 1 196683021 196683021 + Missense_Mutation SNP G G A TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr1:196683021G>A uc001gtj.3 + 10 1733 c.1493G>A c.(1492-1494)GGA>GAA p.G498E NM_000186 NP_000177 P08603 CFAH_HUMAN complement factor H isoform a precursor 498 Sushi 8. complement activation, alternative pathway extracellular space skin(4)|ovary(1)|breast(1) 6 GGGAAAGATGGATGGTCAGCT 0.333 NA 12 83 0 0 0.001368 0 0 F13B 2165 broad.mit.edu 37 1 197024971 197024971 + Missense_Mutation SNP C C A rs144134146 byFrequency TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr1:197024971C>A uc001gtt.1 - 8 1272 c.1228G>T c.(1228-1230)GGG>TGG p.G410W NM_001994 NP_001985 P05160 F13B_HUMAN coagulation factor XIII B subunit precursor 410 Sushi 7. blood coagulation extracellular region upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 3 GCCAATATCCCGTCTGCAACA 0.363 NA 44 61 4.01344e-20 6.38874e-20 0.00361 1 0 CRB1 23418 broad.mit.edu 37 1 197396952 197396952 + Missense_Mutation SNP G G T TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr1:197396952G>T uc001gtz.2 + 7 2632 c.2497G>T c.(2497-2499)GGT>TGT p.G833C CRB1_uc010poz.1_Missense_Mutation_p.G764C|CRB1_uc010ppa.1_RNA|CRB1_uc009wza.2_Missense_Mutation_p.G721C|CRB1_uc010ppb.1_Intron|CRB1_uc010ppc.1_RNA|CRB1_uc010ppd.1_Missense_Mutation_p.G314C|CRB1_uc001gub.1_Missense_Mutation_p.G482C NM_201253 NP_957705 P82279 CRUM1_HUMAN crumbs homolog 1 precursor 833 Extracellular (Potential).|Laminin G-like 2. cell-cell signaling|establishment or maintenance of cell polarity apical plasma membrane|extracellular region|integral to membrane calcium ion binding|protein binding ovary(5)|skin(3)|large_intestine(1) 9 CATCTACATTGGTGGCCTACC 0.378 NA 27 40 2.50493e-22 4.08266e-22 0.004656 1 0 LHX9 56956 broad.mit.edu 37 1 197890725 197890725 + Missense_Mutation SNP G G T TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr1:197890725G>T uc001guk.1 + 3 1106 c.669G>T c.(667-669)CAG>CAT p.Q223H LHX9_uc001gui.1_Missense_Mutation_p.Q214H|LHX9_uc001guj.1_Missense_Mutation_p.Q229H NM_020204 NP_064589 Q9NQ69 LHX9_HUMAN LIM homeobox 9 isoform 1 223 motor axon guidance|negative regulation of transcription, DNA-dependent nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding ovary(1) 1 GCACCGTGCAGAAAGGGCGGC 0.652 NA 17 34 1.5739e-10 2.10624e-10 0.004007 1 0 PTPRC 5788 broad.mit.edu 37 1 198703339 198703339 + Silent SNP C C G TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr1:198703339C>G uc001gur.1 + 21 2331 c.2151C>G c.(2149-2151)CCC>CCG p.P717P PTPRC_uc001gus.1_Silent_p.P669P|PTPRC_uc001gut.1_Silent_p.P556P|PTPRC_uc010ppg.1_Silent_p.P653P NM_002838 NP_002829 P08575 PTPRC_HUMAN protein tyrosine phosphatase, receptor type, C 717 Cytoplasmic (Potential).|Tyrosine-protein phosphatase 1. axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway focal adhesion|integral to plasma membrane|membrane raft protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity breast(4)|skin(3)|ovary(2)|lung(1)|kidney(1)|pancreas(1) 12 TCAAAGAACCCAGGAAATACA 0.294 NA 53 84 0 0 0.00361 0 0 KIF21B 23046 broad.mit.edu 37 1 200978567 200978567 + Missense_Mutation SNP T T A TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr1:200978567T>A uc001gvs.1 - 2 408 c.91A>T c.(91-93)ACC>TCC p.T31S KIF21B_uc001gvr.1_Missense_Mutation_p.T31S|KIF21B_uc009wzl.1_Missense_Mutation_p.T31S|KIF21B_uc010ppn.1_Missense_Mutation_p.T31S NM_017596 NP_060066 O75037 KI21B_HUMAN kinesin family member 21B 31 Kinesin-motor. microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity ovary(3)|skin(3) 6 GTAACAGAGGTACAGATGTGA 0.592 NA 49 115 0 0 0.00361 0 0 CHIT1 1118 broad.mit.edu 37 1 203192633 203192633 + Missense_Mutation SNP G G T TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr1:203192633G>T uc001gzn.2 - 5 566 c.470C>A c.(469-471)ACC>AAC p.T157N FMOD_uc010pqi.1_Intron|CHIT1_uc001gzm.1_RNA|CHIT1_uc009xal.1_5'Flank|CHIT1_uc009xam.1_RNA|CHIT1_uc009xan.1_RNA|CHIT1_uc001gzo.2_Missense_Mutation_p.T148N NM_003465 NP_003456 Q13231 CHIT1_HUMAN chitotriosidase precursor 157 chitin catabolic process|immune response|response to bacterium extracellular space|lysosome cation binding|chitin binding|endochitinase activity 0 CTGTACCAGGGTTGTGAAGCG 0.627 NA 18 94 9.86323e-18 1.51699e-17 0.003954 1 0 LAX1 54900 broad.mit.edu 37 1 203743435 203743435 + Missense_Mutation SNP G G T TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr1:203743435G>T uc001haa.2 + 5 1233 c.823G>T c.(823-825)GAT>TAT p.D275Y LAX1_uc010pql.1_Missense_Mutation_p.D259Y|LAX1_uc001hab.2_Missense_Mutation_p.D199Y NM_017773 NP_060243 Q8IWV1 LAX1_HUMAN lymphocyte transmembrane adaptor 1 isoform a 275 Cytoplasmic (Potential). B cell activation|immune response|inactivation of MAPK activity|intracellular signal transduction|negative regulation of T cell activation Golgi apparatus|integral to membrane|plasma membrane protein kinase binding|SH2 domain binding central_nervous_system(2) 2 all_cancers(21;0.0915) BRCA - Breast invasive adenocarcinoma(75;0.109) GACAGGGTTGGATCTCAGTGC 0.493 NA 20 100 6.33239e-15 9.31936e-15 0.010504 1 0 TMEM81 388730 broad.mit.edu 37 1 205053311 205053311 + Silent SNP G G A TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr1:205053311G>A uc001hbt.2 - 1 278 c.138C>T c.(136-138)GCC>GCT p.A46A NM_203376 NP_976310 Q6P7N7 TMM81_HUMAN transmembrane protein 81 precursor 46 Extracellular (Potential). integral to membrane 0 all_cancers(21;0.144)|Breast(84;0.0437) BRCA - Breast invasive adenocarcinoma(75;0.0923) TACAGGTTGTGGCATTGATGA 0.532 NA 20 104 0 0 0.008871 0 0 USH2A 7399 broad.mit.edu 37 1 216369952 216369952 + Missense_Mutation SNP G G T TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr1:216369952G>T uc001hku.1 - 19 4581 c.4194C>A c.(4192-4194)GAC>GAA p.D1398E USH2A_uc001hkv.2_Missense_Mutation_p.D1398E NM_206933 NP_996816 O75445 USH2A_HUMAN usherin isoform B 1398 Extracellular (Potential).|Fibronectin type-III 4. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1) 26 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) GCATATTGATGTCATACCCCA 0.413 NA HNSCC(13;0.011) 52 93 2.01807e-28 3.55441e-28 0.00361 1 0 RYR2 6262 broad.mit.edu 37 1 237540714 237540714 + Missense_Mutation SNP C C G TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr1:237540714C>G uc001hyl.1 + 8 675 c.555C>G c.(553-555)AGC>AGG p.S185R NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 185 Cytoplasmic (By similarity).|MIR 2. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1) 33 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) TCTTAGTTAGCGTGTCCTCTG 0.423 NA 21 46 0 0 0.001882 0 0 OR13G1 441933 broad.mit.edu 37 1 247835561 247835561 + Silent SNP G G C TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr1:247835561G>C uc001idi.1 - 1 783 c.783C>G c.(781-783)TCC>TCG p.S261S NM_001005487 NP_001005487 Q8NGZ3 O13G1_HUMAN olfactory receptor, family 13, subfamily G, 261 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.017) ATGTATAGCTGGAAGCAGGGC 0.463 NA 60 96 0 0 0.00361 0 0 OR2M2 391194 broad.mit.edu 37 1 248343333 248343333 + Nonsense_Mutation SNP G G T TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr1:248343333G>T uc010pzf.1 + 1 46 c.46G>T c.(46-48)GGA>TGA p.G16* NM_001004688 NP_001004688 Q96R28 OR2M2_HUMAN olfactory receptor, family 2, subfamily M, 16 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(3)|skin(1) 4 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0245) CATCCTCCTTGGAATCTTCAA 0.438 NA 58 309 6.83704e-37 1.30525e-36 0.00361 1 0 OR2T27 403239 broad.mit.edu 37 1 248813304 248813304 + Missense_Mutation SNP G G T TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr1:248813304G>T uc010pzo.1 - 1 882 c.882C>A c.(880-882)AAC>AAA p.N294K NM_001001824 NP_001001824 Q8NH04 O2T27_HUMAN olfactory receptor, family 2, subfamily T, 294 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 all_cancers(71;1.15e-05)|all_epithelial(71;5.29e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.089)|Lung NSC(105;0.0969)|Melanoma(84;0.199) all_cancers(173;0.237) OV - Ovarian serous cystadenocarcinoma(106;0.0265) TGACATCCTTGTTCCTAAGGC 0.478 NA 27 66 3.1745e-13 4.54928e-13 0.008361 1 0 AKR1E2 83592 broad.mit.edu 37 10 4875556 4875556 + Nonsense_Mutation SNP C C A TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr10:4875556C>A uc001ihi.2 + 3 337 c.222C>A c.(220-222)TGC>TGA p.C74* AKR1E2_uc001ihl.1_RNA|AKR1E2_uc010qam.1_Intron|AKR1E2_uc001ihh.1_Nonsense_Mutation_p.C74*|AKR1E2_uc009xhw.2_Nonsense_Mutation_p.C74*|AKR1E2_uc001ihj.2_RNA|AKR1E2_uc001ihk.2_Nonsense_Mutation_p.C74* NM_001040177 NP_001035267 Q96JD6 AKCL2_HUMAN aldo-keto reductase family 1, member E2 74 cytoplasm 1,5-anhydro-D-fructose reductase activity 0 GGTGCACCTGCCATAAGAAGT 0.532 NSCLC(43;343 1097 20371 28813 45509) NA 32 139 1.7881e-09 2.29718e-09 0.008361 1 0 AKR1C3 8644 broad.mit.edu 37 10 5141584 5141584 + Missense_Mutation SNP G G T TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr10:5141584G>T uc001ihr.2 + 5 696 c.513G>T c.(511-513)AGG>AGT p.R171S AKR1C3_uc010qap.1_Missense_Mutation_p.R148S|AKR1C3_uc001ihu.2_Missense_Mutation_p.R171S NM_003739 NP_003730 P42330 AK1C3_HUMAN aldo-keto reductase family 1, member C3 171 prostaglandin metabolic process cytoplasm aldo-keto reductase (NADP) activity|androsterone dehydrogenase (A-specific) activity|indanol dehydrogenase activity|prostaglandin-F synthase activity|testosterone 17-beta-dehydrogenase (NAD+) activity|testosterone 17-beta-dehydrogenase (NADP+) activity|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity skin(1) 1 Dimethyl sulfoxide(DB01093)|NADH(DB00157) TCAACCGCAGGCAGCTGGAGA 0.527 NA 29 74 7.38237e-10 9.57428e-10 0.00632 1 0 FRMD4A 55691 broad.mit.edu 37 10 13782541 13782541 + Silent SNP G G A TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr10:13782541G>A uc001ims.2 - 10 937 c.585C>T c.(583-585)AAC>AAT p.N195N FRMD4A_uc009xjf.1_Silent_p.N195N|FRMD4A_uc001imt.1_Silent_p.N228N|FRMD4A_uc001imu.1_Silent_p.N211N NM_018027 NP_060497 Q9P2Q2 FRM4A_HUMAN FERM domain containing 4A 195 FERM. cytoplasm|cytoskeleton binding ovary(1)|skin(1)|pancreas(1) 3 TTGTCTGACCGTTCAGTTTCT 0.443 NA 45 101 0 0 0.00361 0 0 MTPAP 55149 broad.mit.edu 37 10 30629219 30629219 + Missense_Mutation SNP C C A TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr10:30629219C>A uc001iva.3 - 3 554 c.491G>T c.(490-492)CGG>CTG p.R164L MTPAP_uc001ivb.3_Missense_Mutation_p.R294L|MTPAP_uc001ivc.2_Missense_Mutation_p.R164L NM_018109 NP_060579 Q9NVV4 PAPD1_HUMAN PAP associated domain containing 1 precursor 164 cell death|histone mRNA catabolic process|mRNA polyadenylation|transcription, DNA-dependent mitochondrion ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|protein homodimerization activity|RNA binding|UTP binding ovary(1) 1 ATTACTTGACCGTACGCGTGA 0.403 NA 26 98 4.59853e-10 6.00669e-10 0.005443 1 0 LYZL2 119180 broad.mit.edu 37 10 30918543 30918543 + Missense_Mutation SNP C C A TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr10:30918543C>A uc001ivk.2 - 1 105 c.92G>T c.(91-93)GGC>GTC p.G31V NM_183058 NP_898881 Q7Z4W2 LYZL2_HUMAN lysozyme-like 2 Error:Variant_position_missing_in_Q7Z4W2_after_alignment cell wall macromolecule catabolic process extracellular region lysozyme activity 0 Prostate(175;0.151) ATTCCTGGTGCCTGCCGCAGA 0.522 NA 19 52 1.96292e-10 2.59505e-10 0.010504 1 0 ANKRD30A 91074 broad.mit.edu 37 10 37482152 37482152 + Silent SNP C C A TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr10:37482152C>A uc001iza.1 + 27 2511 c.2412C>A c.(2410-2412)GCC>GCA p.A804A NM_052997 NP_443723 Q9BXX3 AN30A_HUMAN ankyrin repeat domain 30A 860 nucleus DNA binding|sequence-specific DNA binding transcription factor activity ovary(7)|breast(1)|skin(1) 9 CAACTAAAGCCTTAGAATTGA 0.279 NA 16 77 1.02788e-11 1.41723e-11 0.00499 1 0 GDF2 2658 broad.mit.edu 37 10 48413769 48413769 + Missense_Mutation SNP C C A TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr10:48413769C>A uc001jfa.1 - 2 1262 c.1099G>T c.(1099-1101)GAT>TAT p.D367Y NM_016204 NP_057288 Q9UK05 GDF2_HUMAN growth differentiation factor 2 precursor 367 activin receptor signaling pathway|BMP signaling pathway|cartilage development|cellular iron ion homeostasis|growth|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of DNA replication|negative regulation of endothelial cell proliferation|ossification|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent extracellular space cytokine activity|growth factor activity ovary(2)|skin(1) 3 GGCGTCACATCGTCAGCCAAG 0.577 NA 19 91 4.35082e-09 5.49895e-09 0.010504 1 0 ANK3 288 broad.mit.edu 37 10 61894041 61894041 + Silent SNP T T A TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr10:61894041T>A uc001jky.2 - 25 3021 c.2829A>T c.(2827-2829)CCA>CCT p.P943P ANK3_uc001jkw.2_Silent_p.P77P|ANK3_uc009xpa.2_Silent_p.P77P|ANK3_uc001jkx.2_Silent_p.P121P|ANK3_uc010qih.1_Silent_p.P944P|ANK3_uc001jkz.3_Silent_p.P937P|ANK3_uc001jla.1_Silent_p.P9P|ANK3_uc001jlb.1_Silent_p.P450P NM_020987 NP_066267 Q12955 ANK3_HUMAN ankyrin 3 isoform 1 943 establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding skin(9)|ovary(6)|pancreas(2)|central_nervous_system(2) 19 GCTCTTTGGATGGCACAAGGA 0.398 NA 18 35 0 0 0.007413 0 0 CTNNA3 29119 broad.mit.edu 37 10 67726505 67726505 + Splice_Site SNP C C A TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr10:67726505C>A uc009xpn.1 - 17 2389 c.2266_splice c.e17-1 p.C756_splice CTNNA3_uc001jmw.2_Splice_Site_p.C756_splice NM_001127384 NP_001120856 Q9UI47 CTNA3_HUMAN catenin, alpha 3 cell-cell adhesion actin cytoskeleton|cytoplasm|fascia adherens cadherin binding|structural molecule activity skin(3)|ovary(2)|pancreas(1)|lung(1)|central_nervous_system(1) 8 GATCTGGGCACTAAATATGAA 0.363 NA 18 66 1.99824e-07 2.40316e-07 0.00499 1 0 TET1 80312 broad.mit.edu 37 10 70405010 70405010 + Missense_Mutation SNP A A G rs77500190 TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr10:70405010A>G uc001jok.3 + 4 3029 c.2524A>G c.(2524-2526)ATC>GTC p.I842V NM_030625 NP_085128 Q8NFU7 TET1_HUMAN CXXC finger 6 842 DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding ovary(5)|lung(2)|prostate(1)|breast(1) 9 TTCACACTCCATCATAAATCA 0.398 NA 40 170 0 0 0.005524 0 0 ADAMTS14 140766 broad.mit.edu 37 10 72520242 72520242 + Missense_Mutation SNP C C T TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr10:72520242C>T uc001jrh.2 + 22 3305 c.3305C>T c.(3304-3306)CCT>CTT p.P1102L ADAMTS14_uc001jrg.2_Missense_Mutation_p.P1105L NM_080722 NP_542453 Q8WXS8 ATS14_HUMAN ADAM metallopeptidase with thrombospondin type 1 1102 Pro-rich. collagen catabolic process|proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(5)|upper_aerodigestive_tract(1) 6 GGCcccaaccctggcccagac 0.527 NA 33 69 0 0 0.010818 0 0 ACTA2 59 broad.mit.edu 37 10 90699439 90699439 + Silent SNP G G T TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr10:90699439G>T uc001kfp.2 - 7 749 c.633C>A c.(631-633)GTC>GTA p.V211V STAMBPL1_uc010qmx.1_Intron|ACTA2_uc010qmy.1_Silent_p.V166V|ACTA2_uc001kfq.2_Silent_p.V211V|uc001kfo.1_RNA NM_001613 NP_001604 P62736 ACTA_HUMAN alpha 2 actin 211 response to virus cytosol ATP binding 0 Colorectal(252;0.0161) Colorectal(12;0.000123)|COAD - Colon adenocarcinoma(12;0.00018) TGATGTCCCGGACAATCTCAC 0.498 NA 13 53 1.36491e-13 1.97677e-13 0.001855 1 0 SEC31B 25956 broad.mit.edu 37 10 102249075 102249075 + Silent SNP G G C TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr10:102249075G>C uc001krc.1 - 23 3207 c.3105C>G c.(3103-3105)CCC>CCG p.P1035P SEC31B_uc010qpo.1_Silent_p.P1034P|SEC31B_uc001krd.1_Silent_p.P572P|SEC31B_uc001krf.1_Silent_p.P467P|SEC31B_uc001kre.1_Silent_p.P467P NM_015490 NP_056305 Q9NQW1 SC31B_HUMAN SEC31 homolog B 1035 Pro-rich. protein transport|vesicle-mediated transport endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane ovary(1) 1 Colorectal(252;0.117) Epithelial(162;2.36e-10)|all cancers(201;2.09e-08) GGGGCTGTGAGGGAAGAATCC 0.537 NA 9 27 0 0 0.004482 0 0 SMC3 9126 broad.mit.edu 37 10 112356170 112356170 + Missense_Mutation SNP C C T TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr10:112356170C>T uc001kze.2 + 19 2104 c.1978C>T c.(1978-1980)CAT>TAT p.H660Y NM_005445 NP_005436 Q9UQE7 SMC3_HUMAN structural maintenance of chromosomes 3 660 Flexible hinge. cell division|DNA mediated transformation|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic spindle organization|negative regulation of DNA endoreduplication|signal transduction|sister chromatid cohesion basement membrane|chromatin|chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nuclear matrix|nucleoplasm|spindle pole ATP binding|dynein binding|microtubule motor activity|protein heterodimerization activity ovary(1)|central_nervous_system(1)|skin(1) 3 Breast(234;0.0848)|Lung NSC(174;0.238) Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127) CCAAGTCAGCCATCGGGGTGC 0.358 NA 32 112 0 0 0.010818 0 0 NRAP 4892 broad.mit.edu 37 10 115410292 115410292 + Missense_Mutation SNP C C T TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr10:115410292C>T uc001laj.2 - 8 852 c.688G>A c.(688-690)GAG>AAG p.E230K NRAP_uc001lak.2_Missense_Mutation_p.E230K|NRAP_uc001lal.3_Missense_Mutation_p.E230K NM_198060 NP_932326 Q86VF7 NRAP_HUMAN nebulin-related anchoring protein isoform S 230 Nebulin 4. fascia adherens|muscle tendon junction actin binding|muscle alpha-actinin binding|zinc ion binding ovary(6)|central_nervous_system(3)|upper_aerodigestive_tract(1) 10 Colorectal(252;0.0233)|Breast(234;0.188) Epithelial(162;0.00392)|all cancers(201;0.00569) TCATAGTCCTCTGTGTATCTC 0.448 NA 23 63 0 0 0.001882 0 0 TDRD1 56165 broad.mit.edu 37 10 115973156 115973156 + Missense_Mutation SNP A A G TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr10:115973156A>G uc001lbg.1 + 15 2036 c.1883A>G c.(1882-1884)AAA>AGA p.K628R TDRD1_uc001lbf.2_Missense_Mutation_p.K562R|TDRD1_uc001lbh.1_Missense_Mutation_p.K619R|TDRD1_uc001lbi.1_Missense_Mutation_p.K619R|TDRD1_uc010qsc.1_Missense_Mutation_p.K232R|TDRD1_uc001lbj.2_Missense_Mutation_p.K337R NM_198795 NP_942090 Q9BXT4 TDRD1_HUMAN tudor domain containing 1 628 DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis pi-body nucleic acid binding|protein binding|zinc ion binding 0 Colorectal(252;0.172)|Breast(234;0.188) Epithelial(162;0.0343)|all cancers(201;0.0754) TGTCTCATGAAAAAACTTGTA 0.363 NA 5 114 0 0 0.001168 0 0 ATRNL1 26033 broad.mit.edu 37 10 117061553 117061553 + Missense_Mutation SNP C C G TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr10:117061553C>G uc001lcg.2 + 17 3204 c.2818C>G c.(2818-2820)CCT>GCT p.P940A ATRNL1_uc010qsm.1_Missense_Mutation_p.P115A|ATRNL1_uc010qsn.1_RNA NM_207303 NP_997186 Q5VV63 ATRN1_HUMAN attractin-like 1 precursor 940 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) CACCTGCTCCCGTAAGTATTT 0.358 NA 17 106 0 0 0.004007 0 0 ATRNL1 26033 broad.mit.edu 37 10 117486760 117486760 + Missense_Mutation SNP A A T TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr10:117486760A>T uc001lcg.2 + 27 4184 c.3798A>T c.(3796-3798)CAA>CAT p.Q1266H ATRNL1_uc010qsm.1_Missense_Mutation_p.Q395H|ATRNL1_uc010qsn.1_RNA NM_207303 NP_997186 Q5VV63 ATRN1_HUMAN attractin-like 1 precursor 1266 Cytoplasmic (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) CCCTCCAGCAACTGCTTCGAG 0.428 NA 17 46 0 0 0.00499 0 0 KCNK18 338567 broad.mit.edu 37 10 118969187 118969187 + Missense_Mutation SNP T T C TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr10:118969187T>C uc010qsr.1 + 3 532 c.532T>C c.(532-534)TCC>CCC p.S178P NM_181840 NP_862823 Q7Z418 KCNKI_HUMAN potassium channel, subfamily K, member 18 178 Cytoplasmic (Potential). integral to membrane|plasma membrane upper_aerodigestive_tract(1) 1 Colorectal(252;0.19) all cancers(201;0.0211) CCCCCTCCTCTCCAAGTGGTG 0.512 NA 27 128 0 0 0.003954 0 0 EBF3 253738 broad.mit.edu 37 10 131640542 131640542 + Nonsense_Mutation SNP G G A TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr10:131640542G>A uc001lki.1 - 13 1242 c.1183C>T c.(1183-1185)CGA>TGA p.R395* NM_001005463 NP_001005463 Q9H4W6 COE3_HUMAN early B-cell factor 3 404 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|metal ion binding|protein binding central_nervous_system(1)|pancreas(1) 2 all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764) OV - Ovarian serous cystadenocarcinoma(35;0.00513) TCCGCCGCTCGCTTCAAGATG 0.667 NA 4 122 0 0 0.000602 0 0 PHRF1 57661 broad.mit.edu 37 11 608329 608329 + Missense_Mutation SNP G G C TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr11:608329G>C uc001lqe.2 + 14 3004 c.2873G>C c.(2872-2874)CGG>CCG p.R958P PHRF1_uc010qwc.1_Missense_Mutation_p.R957P|PHRF1_uc010qwd.1_Missense_Mutation_p.R956P|PHRF1_uc010qwe.1_Missense_Mutation_p.R954P|PHRF1_uc009ybz.1_Missense_Mutation_p.R748P|PHRF1_uc009yca.1_RNA NM_020901 NP_065952 Q9P1Y6 PHRF1_HUMAN PHD and ring finger domains 1 958 RNA polymerase binding|zinc ion binding 0 TCTGAGGAGCGGACGGTGACC 0.692 NA 8 11 0 0 0.004482 0 0 MUC5B 727897 broad.mit.edu 37 11 1161857 1161857 + Nonsense_Mutation SNP C C T TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr11:1161857C>T uc009ycr.1 + 14 1663 c.1537C>T c.(1537-1539)CAG>TAG p.Q513* NM_017511 NP_059981 Q9HC84 MUC5B_HUMAN SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming; Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment cell adhesion extracellular region extracellular matrix structural constituent|protein binding 0 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) GTTCCTGAACCAGATCTACAC 0.672 NA 5 49 0 0 0.001984 0 0 OR51B5 282763 broad.mit.edu 37 11 5364170 5364170 + Silent SNP C C G TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr11:5364170C>G uc001map.1 - 1 585 c.585G>C c.(583-585)CTG>CTC p.L195L HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron NM_001005567 NP_001005567 Q9H339 O51B5_HUMAN olfactory receptor, family 51, subfamily B, 195 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;3.05e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CAGCTGGGTACAGTCGGTTGA 0.423 NA 71 121 0 0 0.00361 0 0 OR52N5 390075 broad.mit.edu 37 11 5799229 5799229 + Silent SNP A A T TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr11:5799229A>T uc010qzn.1 - 1 636 c.636T>A c.(634-636)GCT>GCA p.A212A TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.1_Intron NM_001001922 NP_001001922 Q8NH56 O52N5_HUMAN olfactory receptor, family 52, subfamily N, 212 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195) CAATCAGGAGAGCAACCATTA 0.428 NA 13 125 0 0 0.001368 0 0 OR56A1 120796 broad.mit.edu 37 11 6048891 6048891 + Missense_Mutation SNP G G T TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr11:6048891G>T uc010qzw.1 - 1 44 c.44C>A c.(43-45)CCA>CAA p.P15Q NM_001001917 NP_001001917 Q8NGH5 O56A1_HUMAN olfactory receptor, family 56, subfamily A, 15 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|breast(1) 3 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) TTCAGAGACTGGGACAGTGGA 0.522 NA 49 94 2.01807e-28 3.55441e-28 0.00361 1 0 DCHS1 8642 broad.mit.edu 37 11 6661905 6661905 + Silent SNP G G A TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr11:6661905G>A uc001mem.1 - 2 1350 c.940C>T c.(940-942)CTG>TTG p.L314L NM_003737 NP_003728 Q96JQ0 PCD16_HUMAN dachsous 1 precursor 314 Extracellular (Potential).|Cadherin 3. calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(3)|large_intestine(1)|pancreas(1) 5 Medulloblastoma(188;0.00263)|all_neural(188;0.026) Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) TCTAACTGCAGCAGCCCCGTG 0.617 NA 16 96 0 0 0.003954 0 0 NLRP14 338323 broad.mit.edu 37 11 7064372 7064372 + Missense_Mutation SNP G G T TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr11:7064372G>T uc001mfb.1 + 4 1438 c.1115G>T c.(1114-1116)TGC>TTC p.C372F NM_176822 NP_789792 Q86W24 NAL14_HUMAN NLR family, pyrin domain containing 14 372 NACHT. cell differentiation|multicellular organismal development|spermatogenesis ATP binding ovary(3)|breast(2)|pancreas(1)|lung(1)|skin(1) 8 Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871) CCCCTAGTGTGCTGGGCCGCT 0.443 NA 30 189 1.13719e-10 1.52557e-10 0.008361 1 0 SPON1 10418 broad.mit.edu 37 11 14284462 14284462 + Missense_Mutation SNP C C A TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr11:14284462C>A uc001mle.2 + 16 2739 c.2201C>A c.(2200-2202)GCC>GAC p.A734D NM_006108 NP_006099 Q9HCB6 SPON1_HUMAN spondin 1, extracellular matrix protein 734 cell adhesion extracellular space|proteinaceous extracellular matrix protein binding 0 Epithelial(150;0.00898) TGGAGGGAGGCCCGAGAGAGC 0.582 NA 21 34 1.2644e-06 1.48466e-06 0.010504 1 0 USH1C 10083 broad.mit.edu 37 11 17554815 17554815 + Silent SNP G G T rs121908370 TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr11:17554815G>T uc001mnf.2 - 2 200 c.91C>A c.(91-93)CGA>AGA p.R31R USH1C_uc001mne.2_Silent_p.R31R|USH1C_uc009yhb.2_Silent_p.R31R|USH1C_uc001mng.2_RNA|USH1C_uc001mnd.2_5'UTR NM_005709 NP_005700 Q9Y6N9 USH1C_HUMAN harmonin isoform a 31 equilibrioception|G2/M transition of mitotic cell cycle|photoreceptor cell maintenance|sensory perception of sound apical part of cell|cytoplasm|stereocilium protein binding ovary(1) 1 TGGTACATTCGCAGCACATCA 0.507 NA 18 105 2.94398e-08 3.64493e-08 0.007413 1 0 SAA4 6291 broad.mit.edu 37 11 18253967 18253967 + Missense_Mutation SNP C C A TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr11:18253967C>A uc001mny.2 - 3 301 c.205G>T c.(205-207)GGT>TGT p.G69C NM_006512 NP_006503 P35542 SAA4_HUMAN serum amyloid A4, constitutive precursor 69 acute-phase response high-density lipoprotein particle 0 GCCCAGACACCCCCAGGTCCT 0.507 NA 36 293 5.71845e-15 8.43858e-15 0.005524 1 0 MRGPRX2 117194 broad.mit.edu 37 11 19077218 19077218 + Missense_Mutation SNP G G C TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr11:19077218G>C uc001mph.2 - 2 820 c.732C>G c.(730-732)TTC>TTG p.F244L NM_054030 NP_473371 Q96LB1 MRGX2_HUMAN MAS-related GPR, member X2 244 Helical; Name=6; (Potential). sensory perception of pain|sleep plasma membrane G-protein coupled receptor activity|neuropeptide binding ovary(1) 1 ATAATATTAGGAACCACTGAA 0.502 GBM(198;1966 2199 4849 37227 49954) NA 13 86 0 0 0.001855 0 0 NAT10 55226 broad.mit.edu 37 11 34139979 34139979 + Nonsense_Mutation SNP G G T TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr11:34139979G>T uc001mvk.2 + 8 953 c.709G>T c.(709-711)GAG>TAG p.E237* NAT10_uc010ren.1_Nonsense_Mutation_p.E165* NM_024662 NP_078938 Q9H0A0 NAT10_HUMAN N-acetyltransferase 10 isoform a 237 nucleolus ATP binding|N-acetyltransferase activity|protein binding ovary(1)|skin(1) 2 Acute lymphoblastic leukemia(5;0.0119)|all_hematologic(20;0.0231) GGAGCTGAGGGAGTTGAAGGA 0.532 NA 23 36 4.4004e-07 5.24589e-07 0.00333 1 0 OR4C13 283092 broad.mit.edu 37 11 49974443 49974443 + Missense_Mutation SNP C C A TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr11:49974443C>A uc010rhz.1 + 1 469 c.469C>A c.(469-471)CAG>AAG p.Q157K NM_001001955 NP_001001955 Q8NGP0 OR4CD_HUMAN olfactory receptor, family 4, subfamily C, 157 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(3)|ovary(1) 4 TGCAACCATACAGATCCTCTT 0.443 NA 100 122 4.25105e-50 8.56484e-50 0.00361 1 0 OR4A5 81318 broad.mit.edu 37 11 51412283 51412283 + Missense_Mutation SNP A A T TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr11:51412283A>T uc001nhi.1 - 1 113 c.113T>A c.(112-114)GTG>GAG p.V38E NM_001005272 NP_001005272 Q8NH83 OR4A5_HUMAN olfactory receptor, family 4, subfamily A, 38 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|central_nervous_system(1)|skin(1) 3 all_lung(304;0.236) CAGGTTCCCCACCACTGTCAC 0.428 NA 39 54 0 0 0.004878 0 0 OR5L1 219437 broad.mit.edu 37 11 55579661 55579661 + Missense_Mutation SNP C C A TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr11:55579661C>A uc001nhw.1 + 1 719 c.719C>A c.(718-720)ACC>AAC p.T240N NM_001004738 NP_001004738 Q8NGL2 OR5L1_HUMAN olfactory receptor, family 5, subfamily L, 240 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(3)|ovary(2) 5 all_epithelial(135;0.208) GCCTTCTCCACCTGTGCTTCC 0.507 NA 58 109 4.33383e-22 7.00081e-22 0.00361 1 0 OR5F1 338674 broad.mit.edu 37 11 55761855 55761855 + Missense_Mutation SNP C C G TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr11:55761855C>G uc010riv.1 - 1 247 c.247G>C c.(247-249)GCA>CCA p.A83P NM_003697 NP_003688 O95221 OR5F1_HUMAN olfactory receptor, family 5, subfamily F, 83 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|pancreas(1) 2 Esophageal squamous(21;0.00448) AATAAATCTGCCAGCATCTTT 0.458 NA 9 98 0 0 0.008291 0 0 OR5M1 390168 broad.mit.edu 37 11 56380768 56380768 + Missense_Mutation SNP T T A TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr11:56380768T>A uc001nja.1 - 1 211 c.211A>T c.(211-213)ATT>TTT p.I71F NM_001004740 NP_001004740 Q8NGP8 OR5M1_HUMAN olfactory receptor, family 5, subfamily M, 71 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1) 1 GAATAGCAAATGTCTACAAAG 0.468 NA 66 91 0 0 0.00361 0 0 OR5B21 219968 broad.mit.edu 37 11 58275002 58275002 + Missense_Mutation SNP T T A TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr11:58275002T>A uc010rki.1 - 1 577 c.577A>T c.(577-579)AGC>TGC p.S193C NM_001005218 NP_001005218 A6NL26 OR5BL_HUMAN olfactory receptor, family 5, subfamily B, 193 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(3) 3 Esophageal squamous(5;0.0027) Breast(21;0.0778) ACCAACTTGCTGATGCGTGTG 0.463 NA 12 46 0 0 0.001855 0 0 MPEG1 219972 broad.mit.edu 37 11 58979381 58979381 + Missense_Mutation SNP G G T TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr11:58979381G>T uc001nnu.3 - 1 1114 c.958C>A c.(958-960)CCT>ACT p.P320T NM_001039396 NP_001034485 Q2M385 MPEG1_HUMAN macrophage expressed gene 1 precursor 320 MACPF.|Extracellular (Potential). integral to membrane ovary(1)|skin(1) 2 all_epithelial(135;0.125) GGCAAGTCAGGTAGCATGTTG 0.557 NA 46 76 6.08268e-21 9.76807e-21 0.00361 1 0 TSGA10IP 254187 broad.mit.edu 37 11 65715521 65715521 + Silent SNP C C T TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr11:65715521C>T uc001ogk.1 + 6 1085 c.1053C>T c.(1051-1053)TCC>TCT p.S351S TSGA10IP_uc009yqw.1_Intron|TSGA10IP_uc009yqx.1_Intron NM_152762 NP_689975 Q3SY00 T10IP_HUMAN testis specific, 10 interacting protein 351 0 TCCAGGCCTCCAAGCGGAATG 0.597 NA 4 9 0 0 0.009096 0 0 C2CD3 26005 broad.mit.edu 37 11 73768561 73768561 + Silent SNP C C T TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr11:73768561C>T uc001ouu.2 - 25 5207 c.4980G>A c.(4978-4980)TCG>TCA p.S1660S C2CD3_uc001out.2_RNA NM_015531 NP_056346 Q4AC94 C2CD3_HUMAN C2 calcium-dependent domain containing 3 1660 C2 2. centrosome ovary(4)|pancreas(2)|skin(1) 7 Breast(11;4.16e-06) AACTGGGTATCGATACTTTCC 0.448 NA 12 96 0 0 0.010729 0 0 CCDC89 220388 broad.mit.edu 37 11 85396473 85396473 + Missense_Mutation SNP T T A TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr11:85396473T>A uc001pau.1 - 1 848 c.701A>T c.(700-702)CAG>CTG p.Q234L NM_152723 NP_689936 Q8N998 CCD89_HUMAN coiled-coil domain containing 89 234 Potential. cytoplasm|nucleus 0 Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572) CTTGAGGGTCTGCAGCTGGCT 0.647 NA 19 101 0 0 0.003954 0 0 GRM5 2915 broad.mit.edu 37 11 88337916 88337916 + Missense_Mutation SNP A A G TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr11:88337916A>G uc001pcq.2 - 4 1564 c.1364T>C c.(1363-1365)CTA>CCA p.L455P GRM5_uc009yvm.2_Missense_Mutation_p.L455P NM_001143831 NP_001137303 P41594 GRM5_HUMAN glutamate receptor, metabotropic 5 isoform a 455 Extracellular (Potential). activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity central_nervous_system(4)|ovary(2)|lung(2)|breast(1) 9 Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834) Acamprosate(DB00659) CTCATCGAATAGGATCGTATC 0.433 NA 33 51 0 0 0.012213 0 0 NAALAD2 10003 broad.mit.edu 37 11 89891342 89891342 + Nonsense_Mutation SNP G G T TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr11:89891342G>T uc001pdf.3 + 7 935 c.826G>T c.(826-828)GGA>TGA p.G276* NAALAD2_uc009yvx.2_Nonsense_Mutation_p.G276*|NAALAD2_uc009yvy.2_Intron|NAALAD2_uc001pdd.2_Nonsense_Mutation_p.G276*|NAALAD2_uc001pde.2_Intron NM_005467 NP_005458 Q9Y3Q0 NALD2_HUMAN N-acetylated alpha-linked acidic dipeptidase 2 276 Extracellular (Potential).|NAALADase. proteolysis integral to membrane carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity pancreas(1)|skin(1) 2 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556) TGTTGAAGAAGGAGTGGGAAT 0.254 NA 84 185 5.70515e-31 1.03834e-30 0.00361 1 0 NAALAD2 10003 broad.mit.edu 37 11 89896515 89896515 + Missense_Mutation SNP G G T TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr11:89896515G>T uc001pdf.3 + 10 1222 c.1113G>T c.(1111-1113)TGG>TGT p.W371C NAALAD2_uc009yvx.2_Missense_Mutation_p.W338C|NAALAD2_uc009yvy.2_Intron|NAALAD2_uc001pde.2_Missense_Mutation_p.W278C NM_005467 NP_005458 Q9Y3Q0 NALD2_HUMAN N-acetylated alpha-linked acidic dipeptidase 2 371 Extracellular (Potential).|NAALADase. proteolysis integral to membrane carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity pancreas(1)|skin(1) 2 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556) GGGACTCCTGGGTATTTGGAG 0.378 NA 42 258 1.34996e-11 1.85196e-11 0.009718 1 0 FAT3 120114 broad.mit.edu 37 11 92531657 92531657 + Silent SNP G G T TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr11:92531657G>T uc001pdj.3 + 9 5495 c.5478G>T c.(5476-5478)GTG>GTT p.V1826V NM_001008781 NP_001008781 Q8TDW7 FAT3_HUMAN FAT tumor suppressor homolog 3 1826 Cadherin 16.|Extracellular (Potential). homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding ovary(4)|pancreas(1) 5 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) TTTTCACGGTGGACTCCAGTA 0.488 NA TCGA Ovarian(4;0.039) 16 31 2.32078e-09 2.96063e-09 0.003163 1 0 FAT3 120114 broad.mit.edu 37 11 92534270 92534270 + Missense_Mutation SNP C C G TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr11:92534270C>G uc001pdj.3 + 9 8108 c.8091C>G c.(8089-8091)CAC>CAG p.H2697Q NM_001008781 NP_001008781 Q8TDW7 FAT3_HUMAN FAT tumor suppressor homolog 3 2697 Cadherin 24.|Extracellular (Potential). homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding ovary(4)|pancreas(1) 5 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) TCTATATCCACGTCTTGCCCC 0.458 NA TCGA Ovarian(4;0.039) 16 35 0 0 0.006122 0 0 DYNC2H1 79659 broad.mit.edu 37 11 103229014 103229014 + Missense_Mutation SNP G G T TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr11:103229014G>T uc001pho.2 + 83 12227 c.12083G>T c.(12082-12084)GGT>GTT p.G4028V DYNC2H1_uc001phn.1_Missense_Mutation_p.G4035V|DYNC2H1_uc009yxe.1_Intron NM_001080463 NP_001073932 Q8NCM8 DYHC2_HUMAN dynein, cytoplasmic 2, heavy chain 1 4028 cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane ATP binding|ATPase activity|microtubule motor activity 0 Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348) BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785) ATAACAGCTGGTTCCAAATTT 0.353 NA 9 8 6.40141e-05 7.0896e-05 0.010729 1 0 CARD16 114769 broad.mit.edu 37 11 104912157 104912157 + Missense_Mutation SNP C C A TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr11:104912157C>A uc001pip.1 - 3 591 c.564G>T c.(562-564)GAG>GAT p.E188D CASP1_uc010rve.1_Intron|CASP1_uc010rvf.1_Intron|CASP1_uc010rvg.1_Intron|CASP1_uc010rvh.1_Intron|CASP1_uc010rvi.1_Intron|CARD16_uc001pio.1_3'UTR NM_001017534 NP_001017534 Q5EG05 CAR16_HUMAN caspase-1 dominant-negative inhibitor pseudo-ICE 188 regulation of apoptosis intracellular cysteine-type endopeptidase inhibitor activity skin(1) 1 CAGTTTGCAACTCTTTACCTA 0.383 NA 33 86 1.36239e-07 1.64572e-07 0.003271 1 0 TECTA 7007 broad.mit.edu 37 11 120983847 120983847 + Missense_Mutation SNP G G C TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr11:120983847G>C uc010rzo.1 + 4 553 c.553G>C c.(553-555)GAA>CAA p.E185Q NM_005422 NP_005413 O75443 TECTA_HUMAN tectorin alpha precursor 185 NIDO. cell-matrix adhesion|sensory perception of sound anchored to membrane|plasma membrane|proteinaceous extracellular matrix breast(6)|ovary(2)|skin(2) 10 all_hematologic(175;0.208) Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166) CAATTATTACGAAATCAACTG 0.572 NA OREG0021430 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 39 65 0 0 0.00361 0 0 OR8G2 26492 broad.mit.edu 37 11 124095613 124095613 + Missense_Mutation SNP G G T TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr11:124095613G>T uc010saf.1 + 1 216 c.216G>T c.(214-216)ATG>ATT p.M72I NM_001007249 NP_001007250 Q15614 OR8G2_HUMAN olfactory receptor, family 8, subfamily G, 72 integral to membrane olfactory receptor activity 0 Breast(109;0.0157)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.91e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528) ATACCCCCATGTACTATTTCC 0.463 NA 29 256 3.73148e-12 5.251e-12 0.007291 1 0 OR8B3 390271 broad.mit.edu 37 11 124266919 124266919 + Missense_Mutation SNP G G T TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr11:124266919G>T uc010saj.1 - 1 329 c.329C>A c.(328-330)TCT>TAT p.S110Y OR8B2_uc001qab.3_Intron NM_001005467 NP_001005467 Q8NGG8 OR8B3_HUMAN olfactory receptor, family 8, subfamily B, 110 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277) GTAACATTCAGAGATGACAAA 0.383 NA 31 48 2.49534e-26 4.27103e-26 0.010818 1 0 OR8A1 390275 broad.mit.edu 37 11 124440930 124440930 + Missense_Mutation SNP G G T rs145520583 TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr11:124440930G>T uc010san.1 + 1 966 c.966G>T c.(964-966)AGG>AGT p.R322S NM_001005194 NP_001005194 Q8NGG7 OR8A1_HUMAN olfactory receptor, family 8, subfamily A, 322 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0214) AAACGCTGAGGGGTAAACTGT 0.443 NA 21 66 5.26018e-13 7.49884e-13 0.001882 1 0 C12orf53 196500 broad.mit.edu 37 12 6804697 6804697 + Silent SNP G G A TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr12:6804697G>A uc001qqf.1 - 5 802 c.726C>T c.(724-726)TTC>TTT p.F242F C12orf53_uc001qqg.1_Silent_p.F242F NM_153685 NP_710152 Q8IYJ0 CL053_HUMAN hypothetical protein LOC196500 precursor 242 Cytoplasmic (Potential). integral to membrane 0 GTGAGTCCCCGAAGGCCCCCA 0.692 NA 15 84 0 0 0.004007 0 0 KIF21A 55605 broad.mit.edu 37 12 39734030 39734030 + Missense_Mutation SNP C C A TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr12:39734030C>A uc001rly.2 - 16 2393 c.2247G>T c.(2245-2247)CAG>CAT p.Q749H KIF21A_uc001rlw.2_Missense_Mutation_p.Q66H|KIF21A_uc001rlx.2_Missense_Mutation_p.Q736H|KIF21A_uc001rlz.2_Missense_Mutation_p.Q736H|KIF21A_uc010skl.1_Missense_Mutation_p.Q736H NM_017641 NP_060111 Q7Z4S6 KI21A_HUMAN kinesin family member 21A 749 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity ovary(4)|pancreas(1)|lung(1)|skin(1) 7 Lung NSC(34;0.179)|all_lung(34;0.213) CATACTGAGACTGATTTTTAA 0.338 NA 15 33 4.7546e-09 5.99541e-09 0.004007 1 0 LIMA1 51474 broad.mit.edu 37 12 50586248 50586249 + Missense_Mutation DNP GG GG AT TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 GG GG - - GG GG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr12:50586248_50586249GG>AT uc001rwj.3 - 9 1300_1301 c.1126_1127CC>AT c.(1126-1128)CCC>ATC p.P376I LIMA1_uc001rwg.3_Missense_Mutation_p.P74I|LIMA1_uc001rwh.3_Missense_Mutation_p.P216I|LIMA1_uc001rwi.3_Missense_Mutation_p.P217I|LIMA1_uc001rwk.3_Missense_Mutation_p.P377I|LIMA1_uc010smr.1_RNA|LIMA1_uc010sms.1_RNA NM_016357 NP_057441 Q9UHB6 LIMA1_HUMAN LIM domain and actin binding 1 isoform b 376 actin filament bundle assembly|negative regulation of actin filament depolymerization|ruffle organization cytoplasm|focal adhesion|stress fiber actin filament binding|actin monomer binding|zinc ion binding ovary(1) 1 CATTGCTTTGGGAGGAGAACTT 0.446 NA 31 95 0 0 0.004672 0 0 ANKRD33 341405 broad.mit.edu 37 12 52282950 52282950 + Missense_Mutation SNP G G T TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr12:52282950G>T uc001rzf.3 + 3 670 c.91G>T c.(91-93)GAC>TAC p.D31Y ANKRD33_uc001rzh.3_3'UTR|ANKRD33_uc001rzd.2_Missense_Mutation_p.D166Y|ANKRD33_uc001rze.2_Missense_Mutation_p.D31Y|ANKRD33_uc001rzg.3_Intron|ANKRD33_uc001rzi.3_Missense_Mutation_p.D31Y NM_001130015 NP_001123487 Q7Z3H0 ANR33_HUMAN ankyrin repeat domain 33 isoform 1 31 ANK 1. 0 BRCA - Breast invasive adenocarcinoma(357;0.0969) CAAAGGAGGGGACACGGCCCT 0.612 NA 13 127 0.000219431 0.000237717 0.00245 1 0 KRT82 3888 broad.mit.edu 37 12 52788890 52788890 + Missense_Mutation SNP C C A TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr12:52788890C>A uc001sai.1 - 9 1526 c.1411G>T c.(1411-1413)GGC>TGC p.G471C NM_033033 NP_149022 Q9NSB4 KRT82_HUMAN keratin 82 471 Tail. keratin filament protein binding|structural constituent of epidermis ovary(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(357;0.193) ATGCTGCAGCCCCCATTGCTC 0.632 NA 9 75 0.000673444 0.000718165 0.008291 1 0 KRT6A 3853 broad.mit.edu 37 12 52885417 52885417 + Missense_Mutation SNP T T C TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr12:52885417T>C uc001sam.2 - 2 853 c.644A>G c.(643-645)GAG>GGG p.E215G NM_005554 NP_005545 P02538 K2C6A_HUMAN keratin 6A 215 Rod.|Linker 1. cell differentiation|ectoderm development|positive regulation of cell proliferation keratin filament protein binding|structural constituent of cytoskeleton ovary(4)|skin(1) 5 BRCA - Breast invasive adenocarcinoma(357;0.189) GATGTACTGCTCGAACAACGG 0.597 NA 3 150 0 0 0.000602 0 0 DDIT3 1649 broad.mit.edu 37 12 57910683 57910683 + Missense_Mutation SNP C C A TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr12:57910683C>A uc001soi.2 - 4 599 c.419G>T c.(418-420)CGG>CTG p.R140L MARS_uc001sof.1_Intron|DDIT3_uc009zps.2_Missense_Mutation_p.R163L|DDIT3_uc009zpt.2_Missense_Mutation_p.R163L NM_004083 NP_004074 P35638 DDIT3_HUMAN DNA-damage-inducible transcript 3 140 Leucine-zipper. cell cycle arrest|cell redox homeostasis|mRNA transcription from RNA polymerase II promoter|negative regulation of determination of dorsal identity|regulation of DNA-dependent transcription in response to stress|response to DNA damage stimulus nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription factor binding FUS/DDIT3(623)|EWSR1/DDIT3(43) soft_tissue(666)|large_intestine(1)|central_nervous_system(1)|lung(1)|skin(1)|ovary(1) 671 CTGCTTGAGCCGTTCATTCTC 0.537 GBM(112;1383 1547 7626 23045 28770) NA T FUS liposarcoma 43 139 5.44703e-19 8.57083e-19 0.009718 1 0 PPM1H 57460 broad.mit.edu 37 12 63083523 63083523 + Missense_Mutation SNP C C A TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr12:63083523C>A uc001srk.3 - 8 1350 c.1201G>T c.(1201-1203)GAC>TAC p.D401Y NM_020700 NP_065751 Q9ULR3 PPM1H_HUMAN protein phosphatase 1H (PP2C domain containing) 401 PP2C-like. phosphoprotein phosphatase activity lung(3)|ovary(1) 4 GBM - Glioblastoma multiforme(1;0.000443)|BRCA - Breast invasive adenocarcinoma(9;0.209) GBM - Glioblastoma multiforme(28;0.0126) ATGTTGGAGTCATGCACCTTC 0.458 NA 9 30 0.000978159 0.00104108 0.010729 1 0 MDM1 56890 broad.mit.edu 37 12 68708818 68708819 + Missense_Mutation DNP CC CC AA TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 CC CC - - CC CC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr12:68708818_68708819CC>AA uc001stz.2 - 9 1544_1545 c.1408_1409GG>TT c.(1408-1410)GGG>TTG p.G470L MDM1_uc010stc.1_Missense_Mutation_p.G435L|MDM1_uc009zqv.1_Missense_Mutation_p.G190L NM_017440 NP_059136 Q8TC05 MDM1_HUMAN mouse Mdm1 nuclear protein homolog isoform 1 470 nucleus ovary(3)|skin(2) 5 Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018) GBM - Glioblastoma multiforme(7;0.000174) TTTCCTGTCCCCTTCCTCTTCA 0.495 NA 44 331 0 0 0.004672 0 0 FGD6 55785 broad.mit.edu 37 12 95602937 95602937 + Missense_Mutation SNP C C A TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr12:95602937C>A uc001tdp.3 - 2 2347 c.2123G>T c.(2122-2124)CGG>CTG p.R708L FGD6_uc009zsx.2_Intron NM_018351 NP_060821 Q6ZV73 FGD6_HUMAN FYVE, RhoGEF and PH domain containing 6 708 actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape cytoskeleton|Golgi apparatus|lamellipodium|ruffle metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding ovary(2)|breast(1) 3 GGTCTGGCCCCGAGACTTCTT 0.478 NA 54 118 1.72184e-34 3.20861e-34 0.00361 1 0 C12orf63 374467 broad.mit.edu 37 12 97052115 97052115 + Silent SNP T T C TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr12:97052115T>C uc001tet.1 + 5 804 c.726T>C c.(724-726)TAT>TAC p.Y242Y NM_198520 NP_940922 Q6ZTY8 CL063_HUMAN hypothetical protein LOC374467 242 skin(6)|ovary(1) 7 AGGCTGAATATGGAGAGAAGG 0.378 NA 13 125 0 0 0.00245 0 0 RASAL1 8437 broad.mit.edu 37 12 113553049 113553049 + Missense_Mutation SNP G G C TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr12:113553049G>C uc001tum.1 - 12 1317 c.1024C>G c.(1024-1026)CGT>GGT p.R342G RASAL1_uc010syp.1_Missense_Mutation_p.R342G|RASAL1_uc001tul.2_Missense_Mutation_p.R342G|RASAL1_uc001tun.1_Missense_Mutation_p.R342G|RASAL1_uc010syq.1_Missense_Mutation_p.R342G|RASAL1_uc001tuo.3_Missense_Mutation_p.R342G|RASAL1_uc010syr.1_Missense_Mutation_p.R342G NM_004658 NP_004649 O95294 RASL1_HUMAN RAS protein activator like 1 342 Ras-GAP. intracellular signal transduction|negative regulation of Ras protein signal transduction cytoplasm|intrinsic to internal side of plasma membrane metal ion binding|phospholipid binding|Ras GTPase activator activity ovary(2)|skin(2) 4 GAGTTAGAACGGAAGAGGGTG 0.577 NA 64 148 0 0 0.00361 0 0 FBXO21 23014 broad.mit.edu 37 12 117604777 117604777 + Silent SNP T T A TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr12:117604777T>A uc001twk.2 - 8 1158 c.1119A>T c.(1117-1119)GCA>GCT p.A373A FBXO21_uc001twj.2_Silent_p.A373A|FBXO21_uc009zwq.2_Intron|FBXO21_uc001twl.1_5'UTR NM_033624 NP_296373 O94952 FBX21_HUMAN F-box only protein 21 isoform 1 373 ubiquitin-dependent protein catabolic process ubiquitin ligase complex ubiquitin-protein ligase activity kidney(1) 1 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.0291) CATACAGTGCTGCAGTCACGT 0.478 GBM(168;452 2038 13535 17701 43680) NA 28 120 0 0 0.009535 0 0 GCN1L1 10985 broad.mit.edu 37 12 120614022 120614022 + Splice_Site SNP T T A TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr12:120614022T>A uc001txo.2 - 10 852 c.839_splice c.e10-1 p.T280_splice NM_006836 NP_006827 Q92616 GCN1L_HUMAN GCN1 general control of amino-acid synthesis regulation of translation ribosome protein binding|translation factor activity, nucleic acid binding ovary(4) 4 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) TAGAAATAGCTAAGGGGGACA 0.502 NA 44 79 0 0 0.011902 0 0 DHX37 57647 broad.mit.edu 37 12 125437014 125437014 + Missense_Mutation SNP A A C TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr12:125437014A>C uc001ugy.2 - 21 2897 c.2798T>G c.(2797-2799)CTG>CGG p.L933R DHX37_uc001ugz.1_Missense_Mutation_p.L20R NM_032656 NP_116045 Q8IY37 DHX37_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 37 933 ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding skin(1) 1 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653) GTGGTCCCCCAGGCCTGCCGT 0.672 NA 6 69 0 0 0.00308 0 0 EP400 57634 broad.mit.edu 37 12 132446343 132446343 + Missense_Mutation SNP G G C rs141437491 TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr12:132446343G>C uc001ujn.2 + 1 1214 c.1179G>C c.(1177-1179)TTG>TTC p.L393F EP400_uc001ujl.2_Missense_Mutation_p.L393F|EP400_uc001ujm.2_Missense_Mutation_p.L393F|EP400_uc001ujj.1_Missense_Mutation_p.L393F|EP400_uc001ujk.2_Missense_Mutation_p.L393F NM_015409 NP_056224 Q96L91 EP400_HUMAN E1A binding protein p400 393 histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity central_nervous_system(4)|ovary(3)|breast(3)|skin(2) 12 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) TGTTTTTCTTGCAACACTTTC 0.403 NA 24 116 0 0 0.00333 0 0 P2RX2 22953 broad.mit.edu 37 12 133198443 133198443 + Missense_Mutation SNP C C A TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr12:133198443C>A uc001ukj.1 + 11 1301 c.1301C>A c.(1300-1302)CCG>CAG p.P434Q P2RX2_uc001uki.1_Intron|P2RX2_uc001ukk.1_Missense_Mutation_p.P460Q|P2RX2_uc001ukl.1_Missense_Mutation_p.P410Q|P2RX2_uc001ukm.1_Missense_Mutation_p.P362Q|P2RX2_uc001ukn.1_Missense_Mutation_p.P342Q|P2RX2_uc009zyt.1_3'UTR|P2RX2_uc001uko.1_Intron NM_170682 NP_733782 Q9UBL9 P2RX2_HUMAN purinergic receptor P2X2 isoform A 434 Cytoplasmic (Potential). positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling|protein homooligomerization integral to membrane ATP binding|extracellular ATP-gated cation channel activity|identical protein binding|purinergic nucleotide receptor activity 0 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0767) OV - Ovarian serous cystadenocarcinoma(86;2.32e-08)|Epithelial(86;8.62e-08)|all cancers(50;4.5e-06) CCAGCCTTCCCGCCCCTGCGG 0.692 NA 32 80 1.13719e-10 1.52557e-10 0.008361 1 0 GPR12 2835 broad.mit.edu 37 13 27333071 27333071 + Silent SNP A A G TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr13:27333071A>G uc010aal.2 - 2 1116 c.894T>C c.(892-894)CCT>CCC p.P298P GPR12_uc010tdl.1_Silent_p.P139P NM_005288 NP_005279 P47775 GPR12_HUMAN G protein-coupled receptor 12 298 Helical; Name=7; (Potential). integral to plasma membrane 0 Colorectal(5;5.77e-05) Breast(139;0.198) Epithelial(112;9.37e-07)|OV - Ovarian serous cystadenocarcinoma(117;1.16e-06)|all cancers(112;8.31e-06)|GBM - Glioblastoma multiforme(144;0.00121)|Lung(94;0.111)|LUSC - Lung squamous cell carcinoma(192;0.184) CATATATGACAGGGTTGATGA 0.542 NA 25 85 0 0 0.00333 0 0 FLT1 2321 broad.mit.edu 37 13 28893606 28893606 + Missense_Mutation SNP G G T rs116034414 by1000genomes TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr13:28893606G>T uc001usb.3 - 24 3525 c.3240C>A c.(3238-3240)AGC>AGA p.S1080R FLT1_uc010aap.2_Missense_Mutation_p.S85R|FLT1_uc010aaq.2_Missense_Mutation_p.S205R|FLT1_uc001usa.3_Missense_Mutation_p.S298R NM_002019 NP_002010 P17948 VGFR1_HUMAN fms-related tyrosine kinase 1 isoform 1 1080 Cytoplasmic (Potential).|Protein kinase. cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway extracellular space|Golgi apparatus|integral to plasma membrane|nucleus ATP binding|growth factor binding|vascular endothelial growth factor receptor activity lung(10)|central_nervous_system(5)|ovary(3)|stomach(2)|skin(2)|urinary_tract(1)|breast(1) 24 Acute lymphoblastic leukemia(6;0.04) Lung SC(185;0.0262)|Breast(139;0.188) Colorectal(13;0.000674) all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207) Sunitinib(DB01268) ACCACACGTCGCTCTTGGTGC 0.463 NA 5 31 5.9392e-07 7.04957e-07 0.001168 1 0 NBEA 26960 broad.mit.edu 37 13 35770394 35770394 + Missense_Mutation SNP G G T TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr13:35770394G>T uc001uvb.2 + 31 5527 c.5321G>T c.(5320-5322)AGA>ATA p.R1774I NBEA_uc010abi.2_Missense_Mutation_p.R430I NM_015678 NP_056493 Q8NFP9 NBEA_HUMAN neurobeachin 1774 cytosol|endomembrane system|plasma membrane|trans-Golgi network protein binding ovary(9)|large_intestine(2) 11 Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207) all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199) GCATTGAAGAGAGAAACACAA 0.393 NA 18 47 1.67942e-08 2.084e-08 0.006122 1 0 KBTBD6 89890 broad.mit.edu 37 13 41705328 41705328 + Missense_Mutation SNP C C A TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr13:41705328C>A uc001uxu.1 - 1 1609 c.1320G>T c.(1318-1320)TTG>TTT p.L440F KBTBD6_uc010ace.1_Intron|KBTBD6_uc010tfe.1_Missense_Mutation_p.L374F|uc001uxv.1_5'Flank NM_152903 NP_690867 Q86V97 KBTB6_HUMAN kelch repeat and BTB (POZ) domain-containing 6 440 Kelch 2. protein binding ovary(1)|skin(1) 2 Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114) all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673) CTCGCCCCCCCAAAATGTAGA 0.473 NA 16 133 1.3612e-06 1.59489e-06 0.003163 1 0 FAM124A 220108 broad.mit.edu 37 13 51855350 51855350 + Silent SNP G G A TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr13:51855350G>A uc001vfg.1 + 4 1730 c.1599G>A c.(1597-1599)TCG>TCA p.S533S FAM124A_uc001vff.1_Silent_p.S569S NM_145019 NP_659456 Q86V42 F124A_HUMAN hypothetical protein LOC220108 533 central_nervous_system(1) 1 Acute lymphoblastic leukemia(7;0.000334)|Breast(56;0.00156)|Prostate(109;0.00538)|Lung NSC(96;0.0216)|Hepatocellular(98;0.152)|Glioma(44;0.236) GBM - Glioblastoma multiforme(99;4.25e-07) CCCCAGGGTCGGCTGGCCCCG 0.577 NA 43 89 0 0 0.009718 0 0 OLFM4 10562 broad.mit.edu 37 13 53624298 53624298 + Missense_Mutation SNP C C A TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr13:53624298C>A uc001vhl.2 + 5 925 c.925C>A c.(925-927)CTG>ATG p.L309M OLFM4_uc001vhk.1_Intron NM_006418 NP_006409 Q6UX06 OLFM4_HUMAN olfactomedin 4 precursor 309 Olfactomedin-like. cell adhesion extracellular space skin(1) 1 Breast(56;0.000776)|Lung NSC(96;0.000814)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173) GBM - Glioblastoma multiforme(99;3.13e-08) GTACAACACACTGGATGATTT 0.433 NA 42 112 1.59361e-14 2.32029e-14 0.006999 1 0 PCDH17 27253 broad.mit.edu 37 13 58207122 58207122 + Missense_Mutation SNP G G T TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr13:58207122G>T uc001vhq.1 + 1 1334 c.442G>T c.(442-444)GGC>TGC p.G148C PCDH17_uc010aec.1_Missense_Mutation_p.G148C NM_001040429 NP_001035519 O14917 PCD17_HUMAN protocadherin 17 precursor 148 Extracellular (Potential).|Cadherin 2. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding|protein binding ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1) 7 Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132) GBM - Glioblastoma multiforme(99;1.06e-05) CGCTGCTCCGGGCACCCGCTT 0.617 Melanoma(72;952 1291 1619 12849 33676) NA 12 50 1.61879e-10 2.15576e-10 0.001368 1 0 PCDH17 27253 broad.mit.edu 37 13 58207470 58207470 + Missense_Mutation SNP G G T TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr13:58207470G>T uc001vhq.1 + 1 1682 c.790G>T c.(790-792)GAT>TAT p.D264Y PCDH17_uc010aec.1_Missense_Mutation_p.D264Y NM_001040429 NP_001035519 O14917 PCD17_HUMAN protocadherin 17 precursor 264 Extracellular (Potential).|Cadherin 3. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding|protein binding ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1) 7 Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132) GBM - Glioblastoma multiforme(99;1.06e-05) AGTGGTCATCGATCTGAACGC 0.587 Melanoma(72;952 1291 1619 12849 33676) NA 52 128 6.81593e-30 1.22418e-29 0.00361 1 0 DIAPH3 81624 broad.mit.edu 37 13 60490351 60490351 + Nonsense_Mutation SNP C C A TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr13:60490351C>A uc001vht.2 - 19 2422 c.2203G>T c.(2203-2205)GAG>TAG p.E735* DIAPH3_uc001vhu.2_Nonsense_Mutation_p.E472*|DIAPH3_uc001vhv.2_Nonsense_Mutation_p.E313* NM_001042517 NP_001035982 Q9NSV4 DIAP3_HUMAN diaphanous homolog 3 isoform a 735 FH2. actin cytoskeleton organization actin binding|Rho GTPase binding ovary(2) 2 Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132) GBM - Glioblastoma multiforme(99;2.77e-05) CTGATTTCCTCATATGGCACC 0.348 NA 25 70 4.26978e-12 5.97769e-12 0.00333 1 0 OXGR1 27199 broad.mit.edu 37 13 97639260 97639260 + Missense_Mutation SNP C C A rs144457939 TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr13:97639260C>A uc001vmx.1 - 4 998 c.754G>T c.(754-756)GTA>TTA p.V252L OXGR1_uc010afr.1_Missense_Mutation_p.V252L NM_080818 NP_543008 Q96P68 OXGR1_HUMAN oxoglutarate (alpha-ketoglutarate) receptor 1 252 Helical; Name=6; (Potential). integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled p.V252I(1) ovary(1)|skin(1) 2 all_neural(89;0.0982)|Medulloblastoma(90;0.163) BRCA - Breast invasive adenocarcinoma(86;0.186) AAAAAACATACGTAAAATGCA 0.438 NA 30 74 6.38683e-12 8.89594e-12 0.008361 1 0 ZIC2 7546 broad.mit.edu 37 13 100637593 100637593 + Missense_Mutation SNP C C T TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr13:100637593C>T uc001von.2 + 3 1256 c.1256C>T c.(1255-1257)CCG>CTG p.P419L NM_007129 NP_009060 O95409 ZIC2_HUMAN zinc finger protein of the cerebellum 2 419 brain development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|visual perception cytoplasm|nucleus chromatin DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) GAGTCCTCCCCGCAGGGCTCT 0.711 Pancreas(97;119 1522 31925 44771 48764) NA 11 38 0 0 0.010729 0 0 FAM155A 728215 broad.mit.edu 37 13 108518829 108518829 + Missense_Mutation SNP C C A TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr13:108518829C>A uc001vql.2 - 1 632 c.116G>T c.(115-117)CGA>CTA p.R39L NM_001080396 NP_001073865 B1AL88 F155A_HUMAN family with sequence similarity 155, member A 39 integral to membrane binding skin(1) 1 CAGAGACAGTCGCCATTTCTG 0.542 NA 93 250 3.01496e-42 5.87917e-42 0.00361 1 0 OR6S1 341799 broad.mit.edu 37 14 21109284 21109284 + Silent SNP G G T TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr14:21109284G>T uc001vxv.1 - 1 567 c.567C>A c.(565-567)CGC>CGA p.R189R NM_001001968 NP_001001968 Q8NH40 OR6S1_HUMAN olfactory receptor, family 6, subfamily S, 189 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 all_cancers(95;0.00304) Epithelial(56;1.23e-06)|all cancers(55;1.01e-05) GBM - Glioblastoma multiforme(265;0.0135) TGCAAGCCAGGCGGAGCAGTG 0.572 NA 61 80 1.4709e-25 2.49413e-25 0.00361 1 0 RNASE2 6036 broad.mit.edu 37 14 21424301 21424301 + Missense_Mutation SNP G G C TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr14:21424301G>C uc010aif.2 + 2 440 c.371G>C c.(370-372)AGG>ACG p.R124T RNASE2_uc001vyl.1_Missense_Mutation_p.R124T NM_002934 NP_002925 P10153 RNAS2_HUMAN ribonuclease, RNase A family, 2 (liver, 124 chemotaxis|RNA catabolic process extracellular region|lysosome nucleic acid binding|pancreatic ribonuclease activity ovary(1) 1 all_cancers(95;0.00381) OV - Ovarian serous cystadenocarcinoma(11;6.3e-09)|Epithelial(56;1.42e-07)|all cancers(55;5.48e-07) GBM - Glioblastoma multiforme(265;0.0187) TCAAACTGCAGGTATGCGCAG 0.458 NA 52 165 0 0 0.00361 0 0 MYH6 4624 broad.mit.edu 37 14 23863047 23863047 + Missense_Mutation SNP G G A TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr14:23863047G>A uc001wjv.2 - 22 2823 c.2756C>T c.(2755-2757)GCC>GTC p.A919V NM_002471 NP_002462 P13533 MYH6_HUMAN myosin heavy chain 6 919 Potential. adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle pancreas(2)|ovary(1)|skin(1) 4 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441) CTTTACTTTGGCCTCCAGCTG 0.527 NA 40 118 0 0 0.006999 0 0 MYH6 4624 broad.mit.edu 37 14 23871768 23871768 + Missense_Mutation SNP C C A TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr14:23871768C>A uc001wjv.2 - 12 1113 c.1046G>T c.(1045-1047)GGC>GTC p.G349V MYH6_uc010akp.1_Missense_Mutation_p.G349V NM_002471 NP_002462 P13533 MYH6_HUMAN myosin heavy chain 6 349 Myosin head-like. adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle pancreas(2)|ovary(1)|skin(1) 4 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441) CTTGTAGACGCCAGCTTTCTC 0.612 NA 70 331 1.34568e-36 2.56007e-36 0.00361 1 0 JPH4 84502 broad.mit.edu 37 14 24040419 24040419 + Silent SNP C C T TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr14:24040419C>T uc001wkq.2 - 6 2439 c.1521G>A c.(1519-1521)GAG>GAA p.E507E JPH4_uc010tnr.1_Silent_p.E172E|JPH4_uc001wkr.2_Silent_p.E507E NM_032452 NP_115828 Q96JJ6 JPH4_HUMAN junctophilin 4 507 Cytoplasmic (Potential). calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity integral to membrane|junctional sarcoplasmic reticulum membrane ovary(1)|pancreas(1) 2 all_cancers(95;0.000251) GBM - Glioblastoma multiforme(265;0.00654) CAGCTAGTTCCTCTGCCTGTG 0.667 NA 7 504 0 0 0.00308 0 0 ADCY4 196883 broad.mit.edu 37 14 24802138 24802138 + Missense_Mutation SNP G G C TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr14:24802138G>C uc001wov.2 - 2 222 c.216C>G c.(214-216)TTC>TTG p.F72L ADCY4_uc001wow.2_Missense_Mutation_p.F72L|ADCY4_uc010toh.1_5'UTR|ADCY4_uc001wox.2_Missense_Mutation_p.F72L|ADCY4_uc001woy.2_Missense_Mutation_p.F72L|ADCY4_uc001woz.3_Missense_Mutation_p.F72L NM_139247 NP_640340 Q8NFM4 ADCY4_HUMAN adenylate cyclase 4 72 Helical; (Potential). activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport cytoplasm|integral to membrane|plasma membrane adenylate cyclase activity|ATP binding|metal ion binding|protein binding ovary(1)|lung(1)|pancreas(1) 3 GBM - Glioblastoma multiforme(265;0.0192) GCAGCAGCGAGAAGCCGCCCA 0.672 NA OREG0022624 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 14 44 0 0 0.003163 0 0 KHNYN 23351 broad.mit.edu 37 14 24901180 24901180 + Missense_Mutation SNP G G T rs142344659 TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr14:24901180G>T uc001wph.3 + 3 915 c.713G>T c.(712-714)GGA>GTA p.G238V KHNYN_uc010tpc.1_Missense_Mutation_p.G279V|KHNYN_uc010alw.2_Missense_Mutation_p.G238V|CBLN3_uc001wpg.3_5'Flank NM_015299 NP_056114 O15037 KHNYN_HUMAN hypothetical protein LOC23351 238 ovary(2)|liver(1) 3 CTGGACACTGGATCTATGGGA 0.627 NA OREG0022627 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 58 122 2.5401e-28 4.45946e-28 0.00361 1 0 AKAP6 9472 broad.mit.edu 37 14 33242894 33242894 + Missense_Mutation SNP G G A TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr14:33242894G>A uc001wrq.2 + 12 3553 c.3383G>A c.(3382-3384)CGT>CAT p.R1128H uc001wrr.2_5'Flank NM_004274 NP_004265 Q13023 AKAP6_HUMAN A-kinase anchor protein 6 1128 Spectrin 2. protein targeting calcium channel complex|nuclear membrane|sarcoplasmic reticulum protein kinase A binding|receptor binding breast(6)|ovary(5)|lung(4)|skin(3)|large_intestine(2)|pancreas(1) 21 Breast(36;0.0388)|Prostate(35;0.15) LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116) GBM - Glioblastoma multiforme(265;0.019) TCCCTCTGTCGTGAAATCAAG 0.448 Melanoma(49;821 1200 7288 13647 42351) NA 32 324 0 0 0.010818 0 0 MDGA2 161357 broad.mit.edu 37 14 47530541 47530541 + Missense_Mutation SNP G G T TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr14:47530541G>T uc001wwj.3 - 7 1425 c.1229C>A c.(1228-1230)ACG>AAG p.T410K MDGA2_uc001wwi.3_Missense_Mutation_p.T181K|MDGA2_uc010ani.2_5'UTR NM_001113498 NP_001106970 Q7Z553 MDGA2_HUMAN MAM domain containing 1 isoform 1 410 Ig-like 4. spinal cord motor neuron differentiation anchored to membrane|plasma membrane ovary(4)|large_intestine(1)|pancreas(1) 6 CCCAAAATCCGTGAATTTTAA 0.428 NA 68 90 7.59065e-32 1.39545e-31 0.00361 1 0 SERPINA3 12 broad.mit.edu 37 14 95088804 95088804 + Silent SNP G G T TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr14:95088804G>T uc001ydp.2 + 4 1123 c.1044G>T c.(1042-1044)GGG>GGT p.G348G SERPINA3_uc001ydo.3_Silent_p.G373G|SERPINA3_uc001ydr.2_RNA|SERPINA3_uc001ydq.2_Silent_p.G348G|SERPINA3_uc001yds.2_Silent_p.G348G|SERPINA3_uc010avg.2_Silent_p.G348G NM_001085 NP_001076 P01011 AACT_HUMAN serpin peptidase inhibitor, clade A, member 3 348 acute-phase response|maintenance of gastrointestinal epithelium|regulation of lipid metabolic process|regulation of proteolysis extracellular region|nucleus DNA binding|protein binding|serine-type endopeptidase inhibitor activity ovary(2)|central_nervous_system(2)|large_intestine(1)|skin(1) 6 all_cancers(154;0.0525)|all_epithelial(191;0.179) COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228) GGATCACAGGGGCCAGGAACC 0.502 NA 23 48 1.28384e-07 1.55427e-07 0.001882 1 0 AHNAK2 113146 broad.mit.edu 37 14 105407380 105407380 + Missense_Mutation SNP G G C TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr14:105407380G>C uc010axc.1 - 7 14528 c.14408C>G c.(14407-14409)GCC>GGC p.A4803G AHNAK2_uc001ypx.2_Missense_Mutation_p.A4703G NM_138420 NP_612429 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 4803 nucleus ovary(1) 1 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) AGGGGCCAAGGCAGCTCTGGG 0.517 NA 20 55 0 0 0.008871 0 0 C15orf2 23742 broad.mit.edu 37 15 24922175 24922175 + Missense_Mutation SNP G G T TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr15:24922175G>T uc001ywo.2 + 1 1635 c.1161G>T c.(1159-1161)GAG>GAT p.E387D NM_018958 NP_061831 Q9NZP6 CO002_HUMAN hypothetical protein LOC23742 387 Pro-rich. cell differentiation|multicellular organismal development|spermatogenesis ovary(2)|large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1) 8 all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086) all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229) ATAAAACAGAGACCATGACAA 0.527 NA 13 39 0.00010058 0.000110274 0.001368 1 0 RYR3 6263 broad.mit.edu 37 15 34018617 34018617 + Missense_Mutation SNP C C A TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr15:34018617C>A uc001zhi.2 + 46 7013 c.6943C>A c.(6943-6945)CGC>AGC p.R2315S RYR3_uc010bar.2_Missense_Mutation_p.R2315S NM_001036 NP_001027 Q15413 RYR3_HUMAN ryanodine receptor 3 2315 4 X approximate repeats.|Cytoplasmic (By similarity). cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity ovary(5)|central_nervous_system(4)|lung(1) 10 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) GGAAGCCATCCGCATCAGGTC 0.552 NA 3 20 2.56e-06 2.96136e-06 0.009096 1 0 TGM5 9333 broad.mit.edu 37 15 43552761 43552761 + Silent SNP G G A TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr15:43552761G>A uc001zrd.1 - 2 35 c.27C>T c.(25-27)CTC>CTT p.L9L TGM5_uc001zre.1_Silent_p.L9L NM_201631 NP_963925 O43548 TGM5_HUMAN transglutaminase 5 isoform 1 9 epidermis development|peptide cross-linking cytoplasm acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity central_nervous_system(1) 1 all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216) GBM - Glioblastoma multiforme(94;4e-07) L-Glutamine(DB00130) GGAGGTCTGTGAGGGCCACTT 0.488 NA 16 76 0 0 0.003163 0 0 SPG11 80208 broad.mit.edu 37 15 44914493 44914493 + Missense_Mutation SNP A A G TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr15:44914493A>G uc001ztx.2 - 13 2400 c.2369T>C c.(2368-2370)ATA>ACA p.I790T SPG11_uc010ueh.1_Missense_Mutation_p.I790T|SPG11_uc010uei.1_Missense_Mutation_p.I790T|SPG11_uc001ztz.1_5'Flank NM_025137 NP_079413 Q96JI7 SPTCS_HUMAN spatacsin isoform 1 790 Extracellular (Potential). cell death cytosol|integral to membrane|nucleus protein binding ovary(4)|skin(1) 5 all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122) all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214) CACGAAGTCTATAGTTCTTTT 0.299 NA 3 48 0 0 0.004672 0 0 TRIM69 140691 broad.mit.edu 37 15 45052015 45052015 + Nonsense_Mutation SNP C C A TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr15:45052015C>A uc001zuf.2 + 7 1801 c.906C>A c.(904-906)TAC>TAA p.Y302* TRIM69_uc001zui.1_Nonsense_Mutation_p.Y98*|TRIM69_uc010bdy.1_Nonsense_Mutation_p.Y81*|TRIM69_uc001zug.1_Nonsense_Mutation_p.Y302*|TRIM69_uc001zuh.1_Nonsense_Mutation_p.Y143* NM_182985 NP_892030 Q86WT6 TRI69_HUMAN tripartite motif-containing 69 isoform a 302 apoptosis nuclear speck zinc ion binding 0 all_cancers(109;2.47e-13)|all_epithelial(112;2.84e-11)|Lung NSC(122;2.23e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122) all cancers(107;5.5e-19)|GBM - Glioblastoma multiforme(94;1.07e-06)|Colorectal(105;0.138)|COAD - Colon adenocarcinoma(120;0.141) TGGGCCAGTACAAAGGTCCTA 0.473 Pancreas(84;519 1450 1802 20427 34706) NA 10 109 1.33987e-11 1.84274e-11 0.008291 1 0 POLG 5428 broad.mit.edu 37 15 89862224 89862224 + Missense_Mutation SNP G G A TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr15:89862224G>A uc002bns.3 - 20 3493 c.3211C>T c.(3211-3213)CGT>TGT p.R1071C POLG_uc002bnr.3_Missense_Mutation_p.R1071C NM_002693 NP_002684 P54098 DPOG1_HUMAN DNA-directed DNA polymerase gamma 1071 base-excision repair, gap-filling|cell death|DNA-dependent DNA replication mitochondrial nucleoid DNA binding|DNA-directed DNA polymerase activity|protease binding ovary(1)|lung(1) 2 Lung NSC(78;0.0472)|all_lung(78;0.089) STAD - Stomach adenocarcinoma(125;0.165) ACCGGGGTACGTGGTATGTCA 0.587 Colon(73;648 1203 11348 18386 27782) NA DNA_polymerases_(catalytic_subunits) 19 68 0 0 0.002299 0 0 IQGAP1 8826 broad.mit.edu 37 15 90996394 90996394 + Missense_Mutation SNP G G T TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr15:90996394G>T uc002bpl.1 + 13 1458 c.1357G>T c.(1357-1359)GCA>TCA p.A453S NM_003870 NP_003861 P46940 IQGA1_HUMAN IQ motif containing GTPase activating protein 1 453 energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction actin filament|cytoplasm|midbody|nucleus|plasma membrane calmodulin binding|GTPase inhibitor activity|protein phosphatase binding|Ras GTPase activator activity ovary(2)|lung(2)|central_nervous_system(2)|pancreas(1)|skin(1) 8 Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488) BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194) GCTCTCTGTCGCAGTGGAGAT 0.478 NA 12 152 0.000219431 0.000237717 0.00245 1 0 NLRC3 197358 broad.mit.edu 37 16 3615000 3615000 + Missense_Mutation SNP C C A TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr16:3615000C>A uc010btn.2 - 4 449 c.38G>T c.(37-39)GGC>GTC p.G13V NM_178844 NP_849172 Q7RTR2 NLRC3_HUMAN NOD3 protein 13 I-kappaB kinase/NF-kappaB cascade|negative regulation of NF-kappaB transcription factor activity|T cell activation cytoplasm ATP binding ovary(2)|pancreas(2)|central_nervous_system(1)|skin(1) 6 GTGGCCCTGGCCGGCCTCCCT 0.687 NA 20 13 8.04996e-18 1.24866e-17 0.001882 1 0 Unknown 0 broad.mit.edu 37 16 15023271 15023271 + Silent SNP G G T TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr16:15023271G>T uc010uzk.1 + 6 1116 c.840G>T c.(838-840)ACG>ACT p.T280T NPIP_uc002dcx.3_RNA SubName: Full=cDNA FLJ57488, highly similar to Polycystin-1; NA AGCCCCTGACGCTGGCGGGTG 0.697 NA 9 63 1.45105e-14 2.11838e-14 0.006122 1 0 SMG1 23049 broad.mit.edu 37 16 18844354 18844354 + Silent SNP C C A TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr16:18844354C>A uc002dfm.2 - 51 9063 c.8700G>T c.(8698-8700)CTG>CTT p.L2900L SMG1_uc010bwb.2_Silent_p.L2760L|SMG1_uc010bwa.2_Silent_p.L1631L NM_015092 NP_055907 Q96Q15 SMG1_HUMAN PI-3-kinase-related kinase SMG-1 2900 DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation cytoplasm|nucleus ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity breast(5)|stomach(4)|lung(4)|kidney(2)|ovary(1) 16 CTAGAGTCTGCAGGGGAACGC 0.468 NA 166 154 1.03592e-72 2.1344e-72 0.00361 1 0 GPRC5B 51704 broad.mit.edu 37 16 19883304 19883304 + Silent SNP G G T TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr16:19883304G>T uc002dgt.2 - 2 972 c.864C>A c.(862-864)GCC>GCA p.A288A GPRC5B_uc010vav.1_Silent_p.A314A NM_016235 NP_057319 Q9NZH0 GPC5B_HUMAN G protein-coupled receptor, family C, group 5, 288 Helical; Name=7; (Potential). lung(1)|breast(1)|skin(1) 3 TCTCAGGGATGGCGTGGAAGA 0.637 NA 39 40 6.19805e-25 1.04127e-24 0.005524 1 0 DNAH3 55567 broad.mit.edu 37 16 20976235 20976235 + Missense_Mutation SNP G G A TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr16:20976235G>A uc010vbe.1 - 53 8971 c.8971C>T c.(8971-8973)CGC>TGC p.R2991C DNAH3_uc010vbd.1_Missense_Mutation_p.R426C NM_017539 NP_060009 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 2991 ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1) 18 GBM - Glioblastoma multiforme(48;0.207) TTAGTATAGCGGATCCCCAGC 0.532 NA 80 62 0 0 0.00361 0 0 PRKCB 5579 broad.mit.edu 37 16 24166177 24166178 + Missense_Mutation DNP TG TG AT TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 TG TG - - TG TG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr16:24166177_24166178TG>AT uc002dmd.2 + 10 1435_1436 c.1238_1239TG>AT c.(1237-1239)ATG>AAT p.M413N PRKCB_uc002dme.2_Missense_Mutation_p.M413N NM_212535 NP_997700 P05771 KPCB_HUMAN protein kinase C, beta isoform 1 413 Protein kinase. apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent cytosol|nucleus|plasma membrane androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding ovary(3)|central_nervous_system(3)|lung(2)|large_intestine(1) 9 Vitamin E(DB00163) TTCCAGACCATGGTAACTTGTC 0.584 NA 21 21 0 0 0.004672 0 0 ITGAL 3683 broad.mit.edu 37 16 30492758 30492758 + Splice_Site SNP A A G TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr16:30492758A>G uc002dyi.3 + 7 753 c.577_splice c.e7-2 p.F193_splice ITGAL_uc010veu.1_Splice_Site|ITGAL_uc002dyj.3_Splice_Site_p.F110_splice|ITGAL_uc010vev.1_Intron NM_002209 NP_002200 P20701 ITAL_HUMAN integrin alpha L isoform a precursor blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell integrin complex cell adhesion molecule binding|receptor activity ovary(3)|lung(3)|central_nervous_system(3)|breast(1) 10 Efalizumab(DB00095) TTCCTTTTCTAGTTTGCTGCT 0.313 NSCLC(110;1462 1641 3311 33990 49495) NA 19 27 0 0 0.008871 0 0 AP1G1 164 broad.mit.edu 37 16 71768563 71768563 + Silent SNP T T C TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr16:71768563T>C uc010cgg.2 - 22 2630 c.2316A>G c.(2314-2316)GCA>GCG p.A772A AP1G1_uc002fba.2_Silent_p.A775A|AP1G1_uc002fbb.2_Silent_p.A795A|AP1G1_uc002faz.2_Silent_p.A189A NM_001128 NP_001119 O43747 AP1G1_HUMAN adaptor-related protein complex 1, gamma 1 772 GAE. endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane|recycling endosome kinesin binding|protein transporter activity ovary(2) 2 Ovarian(137;0.125) CCGTGTTAAATGCTGGGACAA 0.463 NA 8 423 0 0 0.004482 0 0 MINK1 50488 broad.mit.edu 37 17 4794819 4794819 + Silent SNP G G A TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr17:4794819G>A uc010vsl.1 + 16 2005 c.1809G>A c.(1807-1809)CAG>CAA p.Q603Q MINK1_uc010vsk.1_Silent_p.Q603Q|MINK1_uc010vsm.1_Silent_p.Q583Q|MINK1_uc010vsn.1_Silent_p.Q603Q|MINK1_uc010vso.1_Silent_p.Q548Q|MINK1_uc010vsp.1_Silent_p.Q93Q NM_153827 NP_722549 Q8N4C8 MINK1_HUMAN misshapen-like kinase 1 isoform 3 603 JNK cascade cytoplasm ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity central_nervous_system(2)|stomach(1)|large_intestine(1)|lung(1)|skin(1) 6 AGTCCCTGCAGGACCAGCCCA 0.682 NA 3 10 0 0 0.009096 0 0 NLRP1 22861 broad.mit.edu 37 17 5462598 5462598 + Missense_Mutation SNP G G A TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr17:5462598G>A uc002gci.2 - 4 1973 c.1418C>T c.(1417-1419)GCA>GTA p.A473V NLRP1_uc002gcg.1_Missense_Mutation_p.A473V|NLRP1_uc002gck.2_Missense_Mutation_p.A473V|NLRP1_uc002gcj.2_Missense_Mutation_p.A473V|NLRP1_uc002gcl.2_Missense_Mutation_p.A473V|NLRP1_uc002gch.3_Missense_Mutation_p.A473V|NLRP1_uc010clh.2_Missense_Mutation_p.A473V NM_033004 NP_127497 Q9C000 NALP1_HUMAN NLR family, pyrin domain containing 1 isoform 1 473 NACHT. defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide cytoplasm|NALP1 inflammasome complex|nucleus ATP binding|caspase activator activity|enzyme binding|protein domain specific binding lung(4)|breast(2)|ovary(1)|central_nervous_system(1)|skin(1) 9 Colorectal(1115;3.48e-05) TACCCAACGTGCCTGCTCCAA 0.502 NA 8 31 0 0 0.004482 0 0 TP53 7157 broad.mit.edu 37 17 7578556 7578556 + Splice_Site SNP T T A TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr17:7578556T>A uc002gim.2 - 5 570 c.376_splice c.e5-1 p.Y126_splice TP53_uc002gig.1_Splice_Site_p.Y126_splice|TP53_uc002gih.2_Splice_Site_p.Y126_splice|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_5'UTR|TP53_uc010cng.1_5'UTR|TP53_uc002gii.1_5'UTR|TP53_uc010cnh.1_Splice_Site_p.Y126_splice|TP53_uc010cni.1_Splice_Site_p.Y126_splice|TP53_uc002gij.2_Splice_Site_p.Y126_splice|TP53_uc010cnj.1_Splice_Site|TP53_uc002gin.2_Splice_Site_p.Y33_splice|TP53_uc002gio.2_Splice_Site|TP53_uc010vug.1_Splice_Site_p.Y87_splice NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.?(14)|p.0?(7)|p.V73fs*9(1)|p.Y126fs*11(1)|p.P13fs*18(1)|p.T125_Y126insX(1) large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1) 22245 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) AGGGGAGTACTGTAGGAAGAG 0.552 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) 17 24 0 0 0.00499 0 0 GLP2R 9340 broad.mit.edu 37 17 9757860 9757860 + Nonsense_Mutation SNP G G T TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr17:9757860G>T uc002gmd.1 + 5 553 c.553G>T c.(553-555)GGA>TGA p.G185* NM_004246 NP_004237 O95838 GLP2R_HUMAN glucagon-like peptide 2 receptor precursor 185 Helical; Name=1; (Potential). G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of cell proliferation integral to membrane|plasma membrane lung(2)|ovary(1) 3 Glucagon recombinant(DB00040) GTACACCGTGGGATACTCCTT 0.512 NA 80 288 3.73172e-31 6.81444e-31 0.00361 1 0 MYH8 4626 broad.mit.edu 37 17 10322326 10322326 + Missense_Mutation SNP G G T TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr17:10322326G>T uc002gmm.2 - 4 327 c.232C>A c.(232-234)CAA>AAA p.Q78K uc002gml.1_Intron NM_002472 NP_002463 P13535 MYH8_HUMAN myosin, heavy chain 8, skeletal muscle, 78 Myosin head-like. muscle filament sliding cytosol|muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle skin(6)|ovary(3)|breast(2) 11 GGGAAGACTTGGTCTTCCCTG 0.353 NA Trismus-Pseudocamptodactyly_Syndrome_with_Cardiac_Myxoma_and_Freckling 20 58 8.34094e-07 9.83618e-07 0.008871 1 0 TLCD1 116238 broad.mit.edu 37 17 27051724 27051724 + Missense_Mutation SNP C C A TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr17:27051724C>A uc002hco.2 - 4 663 c.548G>T c.(547-549)CGC>CTC p.R183L TLCD1_uc010waw.1_Missense_Mutation_p.R136L NM_138463 NP_612472 Q96CP7 TLCD1_HUMAN TLC domain containing 1 isoform 1 183 TLC.|Helical; (Potential). integral to membrane 0 Lung NSC(42;0.00431) AGGGGCCAGGCGGAAGAGAAA 0.517 NA 35 181 4.3181e-19 6.81411e-19 0.002836 1 0 EVI2A 2123 broad.mit.edu 37 17 29645450 29645450 + Missense_Mutation SNP G G T TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr17:29645450G>T uc002hgm.2 - 2 797 c.582C>A c.(580-582)GAC>GAA p.D194E NF1_uc002hgg.2_Intron|NF1_uc002hgh.2_Intron|NF1_uc002hgi.1_Intron|NF1_uc010cso.2_Intron|EVI2A_uc002hgl.2_Missense_Mutation_p.D217E NM_014210 NP_055025 P22794 EVI2A_HUMAN ecotropic viral integration site 2A isoform 2 194 Cytoplasmic (Potential). integral to membrane transmembrane receptor activity ovary(1)|breast(1) 2 all_cancers(10;6.97e-11)|all_epithelial(10;0.0051)|all_hematologic(16;0.0149)|Breast(31;0.0155)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|all_lung(9;0.0468)|Lung NSC(157;0.094) UCEC - Uterine corpus endometrioid carcinoma (4;6.64e-05)|all cancers(4;5.94e-13)|Epithelial(4;7.98e-12)|OV - Ovarian serous cystadenocarcinoma(4;9.4e-12)|GBM - Glioblastoma multiforme(4;0.18) TTTTCCAAGTGTCTGATTCAG 0.468 NA 33 41 5.60225e-13 7.9657e-13 0.009535 1 0 NF1 4763 broad.mit.edu 37 17 29657518 29657518 + Splice_Site SNP T T A TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr17:29657518T>A uc002hgg.2 + 39 6145 c.5812_splice c.e39+2 p.S1938_splice NF1_uc002hgh.2_Splice_Site_p.S1917_splice|NF1_uc002hgi.1_Missense_Mutation_p.S950R|NF1_uc010cso.2_Splice_Site_p.S126_splice NM_001042492 NP_001035957 P21359 NF1_HUMAN neurofibromin isoform 1 actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus protein binding|Ras GTPase activator activity soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1) 330 all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659) UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146) GCAAATCTAGTAAGTAATGAT 0.323 NA D|Mis|N|F|S|O neurofibroma|glioma neurofibroma|glioma Neurofibromatosis_type_1 TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088) 41 37 0 0 0.006999 0 0 NF1 4763 broad.mit.edu 37 17 29667614 29667614 + Missense_Mutation SNP T T A TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr17:29667614T>A uc002hgg.2 + 47 7346 c.7013T>A c.(7012-7014)CTT>CAT p.L2338H NF1_uc002hgh.2_Missense_Mutation_p.L2317H|NF1_uc010cso.2_Missense_Mutation_p.L526H|NF1_uc010wbt.1_Translation_Start_Site|NF1_uc010wbu.1_RNA NM_001042492 NP_001035957 P21359 NF1_HUMAN neurofibromin isoform 1 2338 actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus protein binding|Ras GTPase activator activity p.L2338fs*8(1) soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1) 330 all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659) UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146) ACCGCACTTCTTGAACAAAAC 0.443 NA D|Mis|N|F|S|O neurofibroma|glioma neurofibroma|glioma Neurofibromatosis_type_1 TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088) 8 84 0 0 0.00308 0 0 GAS2L2 246176 broad.mit.edu 37 17 34073054 34073054 + Missense_Mutation SNP G G C TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr17:34073054G>C uc002hjv.1 - 6 1490 c.1462C>G c.(1462-1464)CCA>GCA p.P488A NM_139285 NP_644814 Q8NHY3 GA2L2_HUMAN growth arrest-specific 2 like 2 488 cell cycle arrest cytoplasm|cytoskeleton ovary(1)|skin(1) 2 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) ACAGACTCTGGCTCCCTGAAC 0.642 NA 102 98 0 0 0.00361 0 0 DHRS11 79154 broad.mit.edu 37 17 34951468 34951468 + Missense_Mutation SNP C C T TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr17:34951468C>T uc002hnd.2 + 2 429 c.215C>T c.(214-216)TCA>TTA p.S72L NM_024308 NP_077284 Q6UWP2 DHR11_HUMAN short-chain dehydrogenase/reductase precursor 72 extracellular region binding|oxidoreductase activity 0 TGTGACCTATCAAATGAAGAG 0.537 NA 21 128 0 0 0.010504 0 0 PLXDC1 57125 broad.mit.edu 37 17 37264449 37264449 + Missense_Mutation SNP C C A TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr17:37264449C>A uc002hrg.2 - 5 731 c.519G>T c.(517-519)CAG>CAT p.Q173H uc002hrf.1_3'UTR|PLXDC1_uc002hrh.2_RNA|PLXDC1_uc002hri.2_RNA|PLXDC1_uc002hrj.1_RNA|PLXDC1_uc002hrk.1_RNA NM_020405 NP_065138 Q8IUK5 PXDC1_HUMAN plexin domain containing 1 precursor 173 Extracellular (Potential). angiogenesis cytoplasm|extracellular region|integral to membrane|tight junction ovary(1)|kidney(1)|skin(1) 3 GCGCCACATACTGAGTAGCTG 0.537 NA 84 126 6.71967e-41 1.29644e-40 0.00361 1 0 CASC3 22794 broad.mit.edu 37 17 38318060 38318060 + Missense_Mutation SNP G G A TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr17:38318060G>A uc010cwt.1 + 4 647 c.352G>A c.(352-354)GAA>AAA p.E118K CASC3_uc010cws.1_Missense_Mutation_p.E118K|CASC3_uc002hue.2_Missense_Mutation_p.E118K NM_007359 NP_031385 O15234 CASC3_HUMAN metastatic lymph node 51 118 Potential. mRNA processing|mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|response to stress|RNA splicing exon-exon junction complex|nuclear speck|perinuclear region of cytoplasm identical protein binding|RNA binding|ubiquitin protein ligase binding ovary(1) 1 GCTGAAATCAGAAGCTAATGA 0.438 NA 44 84 0 0 0.009718 0 0 KRT28 162605 broad.mit.edu 37 17 38950232 38950232 + Nonsense_Mutation SNP G G A TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr17:38950232G>A uc002hvh.1 - 6 1111 c.1045C>T c.(1045-1047)CAG>TAG p.Q349* NM_181535 NP_853513 Q7Z3Y7 K1C28_HUMAN keratin 25D 349 Rod.|Coil 2. cytoplasm|intermediate filament structural molecule activity ovary(1) 1 Breast(137;0.000301) ATCTGAGCCTGGATCTGCGCC 0.582 Melanoma(19;789 869 15380 26882 39836) NA 149 167 0 0 0.00361 0 0 KRTAP3-1 83896 broad.mit.edu 37 17 39165133 39165133 + Missense_Mutation SNP C C G TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr17:39165133C>G uc002hvt.1 - 1 234 c.194G>C c.(193-195)TGC>TCC p.C65S NM_031958 NP_114164 Q9BYR8 KRA31_HUMAN keratin associated protein 3.1 65 keratin filament structural molecule activity 0 Breast(137;0.00043) GAGCAGCCAGCAAGTTGGCAC 0.597 NA 36 44 0 0 0.004878 0 0 GFAP 2670 broad.mit.edu 37 17 42988648 42988648 + Silent SNP G G T TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr17:42988648G>T uc002ihq.2 - 6 1143 c.1083C>A c.(1081-1083)ATC>ATA p.I361I GFAP_uc002ihr.2_Silent_p.I361I|GFAP_uc010wjg.1_RNA NM_002055 NP_002046 P14136 GFAP_HUMAN glial fibrillary acidic protein isoform 1 361 Coil 2B.|Rod. cytoplasm|intermediate filament structural constituent of cytoskeleton ovary(1)|pancreas(1) 2 Prostate(33;0.0959) TGGCGATCTCGATGTCCAGGG 0.632 NA 54 80 1.0442e-30 1.89413e-30 0.00361 1 0 GFAP 2670 broad.mit.edu 37 17 42989121 42989121 + Silent SNP G G C TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr17:42989121G>C uc002ihq.2 - 5 885 c.825C>G c.(823-825)CTC>CTG p.L275L GFAP_uc002ihr.2_Silent_p.L275L|GFAP_uc010wjg.1_RNA NM_002055 NP_002046 P14136 GFAP_HUMAN glial fibrillary acidic protein isoform 1 275 Coil 2B.|Rod. cytoplasm|intermediate filament structural constituent of cytoskeleton ovary(1)|pancreas(1) 2 Prostate(33;0.0959) TGGCCTGGCGGAGCAGCTCCG 0.677 NA 38 52 0 0 0.00874 0 0 HOXB8 3218 broad.mit.edu 37 17 46690585 46690585 + Silent SNP C C A TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr17:46690585C>A uc002inw.2 - 2 946 c.711G>T c.(709-711)GCG>GCT p.A237A HOXB7_uc002inv.2_5'Flank NM_024016 NP_076921 P17481 HXB8_HUMAN homeobox B8 237 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 CGCCCTTCTGCGCGTCGCCCT 0.443 NA 60 86 2.22609e-26 3.82215e-26 0.00361 1 0 OR4D2 124538 broad.mit.edu 37 17 56247058 56247058 + Missense_Mutation SNP C C A TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr17:56247058C>A uc010wnp.1 + 1 42 c.42C>A c.(40-42)TTC>TTA p.F14L NM_001004707 NP_001004707 P58180 OR4D2_HUMAN olfactory receptor, family 4, subfamily D, 14 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|breast(1) 2 ACTTTGTCTTCCTGGGGCTCT 0.458 NA 22 154 1.87028e-06 2.17271e-06 0.001882 1 0 DDX42 11325 broad.mit.edu 37 17 61886919 61886919 + Splice_Site SNP G G T TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr17:61886919G>T uc002jbu.2 + 12 1410 c.1153_splice c.e12-1 p.G385_splice DDX42_uc002jbv.2_Splice_Site_p.G385_splice|DDX42_uc002jbw.1_Splice_Site_p.G121_splice|DDX42_uc002jbx.2_Splice_Site_p.G121_splice|DDX42_uc002jby.2_5'Flank NM_007372 NP_031398 Q86XP3 DDX42_HUMAN DEAD box polypeptide 42 protein protein localization|regulation of anti-apoptosis Cajal body|cytoplasm|nuclear speck ATP binding|ATP-dependent helicase activity|protein binding|RNA binding ovary(2)|skin(2)|large_intestine(1) 5 TGATCTTATAGGGTCGACTGA 0.378 NA 11 86 3.86212e-05 4.29474e-05 0.008291 1 0 WIPI1 55062 broad.mit.edu 37 17 66417950 66417950 + Silent SNP G G A rs146678987 TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr17:66417950G>A uc010dey.2 - 13 1396 c.1305C>T c.(1303-1305)TGC>TGT p.C435C WIPI1_uc002jhd.3_RNA|WIPI1_uc010wqo.1_Silent_p.C353C|WIPI1_uc002jhe.3_RNA NM_017983 NP_060453 Q5MNZ9 WIPI1_HUMAN WD repeat domain, phosphoinositide interacting 435 macroautophagy|vesicle targeting, trans-Golgi to endosome autophagic vacuole membrane|clathrin-coated vesicle|cytosol|endosome membrane|PAS complex|pre-autophagosomal structure membrane|trans-Golgi network androgen receptor binding|estrogen receptor binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding 0 GATTTCCACGGCACAAGATTA 0.468 NA 5 184 0 0 0.000602 0 0 C1QTNF1 114897 broad.mit.edu 37 17 77044101 77044101 + Silent SNP C C A TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr17:77044101C>A uc002jwp.2 + 4 1117 c.777C>A c.(775-777)ATC>ATA p.I259I C1QTNF1_uc002jwq.2_Silent_p.I177I|C1QTNF1_uc002jwr.3_Silent_p.I269I|C1QTNF1_uc002jws.2_Silent_p.I259I|C1QTNF1_uc002jwt.2_Silent_p.I357I NM_030968 NP_112230 Q9BXJ1 C1QT1_HUMAN C1q and tumor necrosis factor related protein 1 259 C1q. collagen ovary(1) 1 BRCA - Breast invasive adenocarcinoma(99;0.0294)|OV - Ovarian serous cystadenocarcinoma(97;0.201) AGAACGCCATCTTCAGCGAGG 0.622 NA 34 51 9.65963e-10 1.2498e-09 0.003271 1 0 TSPAN10 83882 broad.mit.edu 37 17 79614970 79614970 + Silent SNP C C T TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr17:79614970C>T uc010die.2 + 4 804 c.714C>T c.(712-714)AGC>AGT p.S238S TSPAN10_uc010did.1_RNA NM_031945 NP_114151 Q9H1Z9 TSN10_HUMAN tetraspanin 10 238 integral to membrane ovary(1) 1 all_neural(118;0.0878)|all_lung(278;0.175)|Lung NSC(278;0.192)|Melanoma(429;0.242) BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739) AGGCCTGCAGCCTTCCCGCCT 0.652 NA 3 18 0 0 0.000602 0 0 TBCD 6904 broad.mit.edu 37 17 80726316 80726316 + Missense_Mutation SNP G G T TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr17:80726316G>T uc002kfz.2 + 5 586 c.456G>T c.(454-456)ATG>ATT p.M152I TBCD_uc002kfx.1_Missense_Mutation_p.M135I|TBCD_uc002kfy.1_Missense_Mutation_p.M152I NM_005993 NP_005984 Q9BTW9 TBCD_HUMAN beta-tubulin cofactor D 152 'de novo' posttranslational protein folding|adherens junction assembly|negative regulation of cell-substrate adhesion|negative regulation of microtubule polymerization|post-chaperonin tubulin folding pathway|tight junction assembly adherens junction|cytoplasm|lateral plasma membrane|microtubule|tight junction beta-tubulin binding|chaperone binding|GTPase activator activity 0 Breast(20;0.000523)|all_neural(118;0.0779) all_cancers(8;0.0266)|all_epithelial(8;0.0696) OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18) CCCGCTACATGCTTTTGCTCT 0.498 NA 184 212 4.5953e-65 9.39712e-65 0.00361 1 0 ANKRD30B 374860 broad.mit.edu 37 18 14851670 14851670 + Missense_Mutation SNP G G C TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr18:14851670G>C uc010dlo.2 + 36 3550 c.3370G>C c.(3370-3372)GCT>CCT p.A1124P ANKRD30B_uc010xal.1_Missense_Mutation_p.A266P NM_001145029 NP_001138501 Q9BXX2 AN30B_HUMAN ankyrin repeat domain 30B 1209 Potential. ovary(1)|skin(1) 2 AGAAAAGAATGCTGAACTTCA 0.373 NA 3 47 0 0 0.004672 0 0 ASXL3 80816 broad.mit.edu 37 18 31319419 31319419 + Missense_Mutation SNP C C A TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr18:31319419C>A uc010dmg.1 + 11 2106 c.2051C>A c.(2050-2052)TCC>TAC p.S684Y ASXL3_uc002kxq.2_Missense_Mutation_p.S391Y NM_030632 NP_085135 Q9C0F0 ASXL3_HUMAN additional sex combs like 3 684 Ser-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding ovary(2)|pancreas(1) 3 TCTCCAATATCCACTTCACCT 0.363 NA 56 101 2.31418e-15 3.43354e-15 0.00361 1 0 MOCOS 55034 broad.mit.edu 37 18 33793329 33793329 + Missense_Mutation SNP G G T TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr18:33793329G>T uc002kzq.3 + 7 1242 c.1219G>T c.(1219-1221)GTG>TTG p.V407L NM_017947 NP_060417 Q96EN8 MOCOS_HUMAN molybdenum cofactor sulfurase 407 Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process cytosol lyase activity|Mo-molybdopterin cofactor sulfurase activity|molybdenum ion binding|pyridoxal phosphate binding skin(1) 1 Pyridoxal Phosphate(DB00114) AAATCCGCAGGTGGACAAAAT 0.463 NA 10 51 9.70103e-10 1.25219e-09 0.008291 1 0 SETBP1 26040 broad.mit.edu 37 18 42531706 42531706 + Nonsense_Mutation SNP G G T TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr18:42531706G>T uc010dni.2 + 4 2697 c.2401G>T c.(2401-2403)GAG>TAG p.E801* NM_015559 NP_056374 Q9Y6X0 SETBP_HUMAN SET binding protein 1 isoform a 801 nucleus DNA binding upper_aerodigestive_tract(2)|large_intestine(1) 3 Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201) CAATTTTTCAGAGTTGAAAAC 0.498 NA Schinzel-Giedion_syndrome 52 57 2.01872e-29 3.59029e-29 0.00361 1 0 SLC14A2 8170 broad.mit.edu 37 18 43249375 43249375 + Missense_Mutation SNP G G C TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr18:43249375G>C uc010dnj.2 + 17 2462 c.2141G>C c.(2140-2142)GGC>GCC p.G714A SLC14A2_uc002lbe.2_Missense_Mutation_p.G714A NM_007163 NP_009094 Q15849 UT2_HUMAN solute carrier family 14 (urea transporter), 714 Helical; (Potential). apical plasma membrane|integral to membrane|membrane fraction protein binding|urea transmembrane transporter activity upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)|skin(1) 4 GCAGCCACGGGCCACTACAAC 0.557 NA 39 221 0 0 0.005524 0 0 DYM 54808 broad.mit.edu 37 18 46858254 46858254 + Missense_Mutation SNP C C A TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr18:46858254C>A uc002ldi.1 - 8 1108 c.743G>T c.(742-744)GGA>GTA p.G248V DYM_uc010xdf.1_Intron|DYM_uc002ldj.3_Missense_Mutation_p.G70V NM_017653 NP_060123 Q7RTS9 DYM_HUMAN dymeclin 248 Golgi apparatus 0 TGATGCAAGTCCATAAAGCAG 0.398 NA 22 124 2.98393e-07 3.57287e-07 0.00278 1 0 WDR7 23335 broad.mit.edu 37 18 54694337 54694337 + Missense_Mutation SNP G G T TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr18:54694337G>T uc002lgk.1 + 28 4583 c.4372G>T c.(4372-4374)GGC>TGC p.G1458C WDR7_uc002lgl.1_Missense_Mutation_p.G1425C NM_015285 NP_056100 Q9Y4E6 WDR7_HUMAN rabconnectin-3 beta isoform 1 1458 ovary(2)|skin(1) 3 Lung(128;0.0238)|Colorectal(16;0.0296) CGCGTCCCCCGGCTCCCACAA 0.617 NA 17 90 3.57192e-18 5.5722e-18 0.006122 1 0 ATP8B1 5205 broad.mit.edu 37 18 55359150 55359150 + Missense_Mutation SNP G G A TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr18:55359150G>A uc002lgw.2 - 11 1109 c.1109C>T c.(1108-1110)TCT>TTT p.S370F uc002lgv.1_Intron NM_005603 NP_005594 O43520 AT8B1_HUMAN ATPase, class I, type 8B, member 1 370 Extracellular (Potential). ATP biosynthetic process|bile acid and bile salt transport|negative regulation of transcription, DNA-dependent apical plasma membrane|integral to plasma membrane|membrane fraction ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity breast(5)|ovary(2)|central_nervous_system(2)|lung(1) 10 Colorectal(73;0.229) GAGGTACCAAGAGGAATTGCC 0.448 NA Byler_disease 10 36 0 0 0.006214 0 0 ALPK2 115701 broad.mit.edu 37 18 56202436 56202436 + Missense_Mutation SNP C C A TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr18:56202436C>A uc002lhj.3 - 5 5197 c.4983G>T c.(4981-4983)GAG>GAT p.E1661D ALPK2_uc002lhk.1_Missense_Mutation_p.E992D NM_052947 NP_443179 Q86TB3 ALPK2_HUMAN heart alpha-kinase 1661 ATP binding|protein serine/threonine kinase activity ovary(7)|skin(5)|lung(1)|central_nervous_system(1) 14 CTTTCTCTAACTCACGTTCTC 0.498 NA 16 143 2.23348e-06 2.58913e-06 0.004007 1 0 CDH20 28316 broad.mit.edu 37 18 59217422 59217422 + Silent SNP C C A TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr18:59217422C>A uc010dps.1 + 10 1872 c.1860C>A c.(1858-1860)GGC>GGA p.G620G CDH20_uc002lif.2_Silent_p.G614G NM_031891 NP_114097 Q9HBT6 CAD20_HUMAN cadherin 20, type 2 preproprotein 620 Helical; (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(3)|ovary(1)|pancreas(1) 5 Colorectal(73;0.186) TGAGCCGGGGCGCCCTCATTG 0.582 NA 8 91 1.06961e-07 1.30651e-07 0.00308 1 0 TNFRSF11A 8792 broad.mit.edu 37 18 60015426 60015426 + Missense_Mutation SNP G G A TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr18:60015426G>A uc002lin.2 + 2 139 c.101G>A c.(100-102)TGT>TAT p.C34Y TNFRSF11A_uc010dpv.2_Missense_Mutation_p.C34Y NM_003839 NP_003830 Q9Y6Q6 TNR11_HUMAN tumor necrosis factor receptor superfamily, 34 TNFR-Cys 1.|Extracellular (Potential). adaptive immune response|cell-cell signaling|circadian temperature homeostasis|monocyte chemotaxis|osteoclast differentiation|positive regulation of cell proliferation|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling|positive regulation of fever generation by positive regulation of prostaglandin secretion|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|response to interleukin-1|response to lipopolysaccharide external side of plasma membrane|integral to membrane metal ion binding|tumor necrosis factor receptor activity breast(2)|lung(1) 3 Colorectal(73;0.188) GCTCCTCCATGTACCAGTGAG 0.483 NA Paget_Disease_of_Bone 44 67 0 0 0.011902 0 0 CDH7 1005 broad.mit.edu 37 18 63527052 63527052 + Missense_Mutation SNP G G T TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr18:63527052G>T uc002ljz.2 + 10 1928 c.1603G>T c.(1603-1605)GAT>TAT p.D535Y CDH7_uc002lka.2_Missense_Mutation_p.D535Y|CDH7_uc002lkb.2_Missense_Mutation_p.D535Y NM_033646 NP_387450 Q9ULB5 CADH7_HUMAN cadherin 7, type 2 preproprotein 535 Extracellular (Potential).|Cadherin 5. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.L533_D535del(1) ovary(2)|pancreas(1)|skin(1) 4 Esophageal squamous(42;0.129) TTCATTGAAAGATAACAAAGG 0.368 NA 14 51 9.31168e-06 1.06141e-05 0.001855 1 0 NCLN 56926 broad.mit.edu 37 19 3204605 3204605 + Missense_Mutation SNP C C T TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr19:3204605C>T uc002lxi.2 + 9 1218 c.1064C>T c.(1063-1065)TCC>TTC p.S355F NCLN_uc002lxh.1_RNA|NCLN_uc002lxj.1_RNA|NCLN_uc002lxk.2_5'UTR NM_020170 NP_064555 Q969V3 NCLN_HUMAN nicalin precursor 355 Lumenal (Potential). proteolysis|regulation of signal transduction endoplasmic reticulum membrane|integral to membrane|nucleus peptidase activity|protein binding 0 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.83e-113)|Epithelial(107;1.65e-111)|all cancers(105;1.53e-103)|BRCA - Breast invasive adenocarcinoma(158;0.00139)|STAD - Stomach adenocarcinoma(1328;0.18) GTACGGTTCTCCATGGTGCAC 0.687 NA 10 62 0 0 0.001368 0 0 NFIC 4782 broad.mit.edu 37 19 3452610 3452610 + Silent SNP G G T TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr19:3452610G>T uc010xhi.1 + 8 1277 c.1215G>T c.(1213-1215)CCG>CCT p.P405P NFIC_uc002lxo.2_Silent_p.P396P|NFIC_uc010xhh.1_Silent_p.P396P|NFIC_uc002lxp.2_Silent_p.P405P|NFIC_uc010xhj.1_Silent_p.P405P NM_205843 NP_995315 P08651 NFIC_HUMAN nuclear factor I/C isoform 2 405 DNA replication|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity 0 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;7.8e-05)|Epithelial(107;2.94e-108)|BRCA - Breast invasive adenocarcinoma(158;0.00154)|STAD - Stomach adenocarcinoma(1328;0.191) CCCAGGACCCGCTCAAAGATC 0.652 NA 34 206 1.30091e-30 2.35198e-30 0.006999 1 0 ANKRD24 170961 broad.mit.edu 37 19 4219712 4219712 + Missense_Mutation SNP G G T TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr19:4219712G>T uc010dtt.1 + 19 3404 c.3128G>T c.(3127-3129)CGG>CTG p.R1043L NM_133475 NP_597732 Q8TF21 ANR24_HUMAN ankyrin repeat domain 24 1043 Potential. 0 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0233)|STAD - Stomach adenocarcinoma(1328;0.181) GCCCAGAGCCGGGCCCAGGAG 0.657 NA 31 50 3.69857e-22 6.01017e-22 0.008361 1 0 FBN3 84467 broad.mit.edu 37 19 8183790 8183790 + Missense_Mutation SNP C C G TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr19:8183790C>G uc002mjf.2 - 25 3349 c.3328G>C c.(3328-3330)GCC>CCC p.A1110P NM_032447 NP_115823 Q75N90 FBN3_HUMAN fibrillin 3 precursor 1110 EGF-like 14; calcium-binding. proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent ovary(6)|skin(3)|pancreas(1)|central_nervous_system(1) 11 CCCTCACAGGCAGTGCCCTTG 0.587 NA 16 112 0 0 0.006122 0 0 ZNF414 84330 broad.mit.edu 37 19 8578116 8578116 + Missense_Mutation SNP G G A TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr19:8578116G>A uc002mkf.2 - 2 231 c.113C>T c.(112-114)TCC>TTC p.S38F ZNF414_uc002mke.3_Missense_Mutation_p.S38F|ZNF414_uc010dwf.2_Missense_Mutation_p.S27F NM_032370 NP_115746 Q96IQ9 ZN414_HUMAN zinc finger protein 414 isoform 2 38 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 CATGGAGGAGGAAGGGGCTGC 0.682 NA 3 19 0 0 0.004672 0 0 MUC16 94025 broad.mit.edu 37 19 9069492 9069492 + Missense_Mutation SNP C C A TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr19:9069492C>A uc002mkp.2 - 3 18158 c.17954G>T c.(17953-17955)AGT>ATT p.S5985I NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 5987 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 GCTACTTGCACTTGGTAAGGA 0.478 NA 26 176 1.38267e-23 2.29464e-23 0.005443 1 0 MUC16 94025 broad.mit.edu 37 19 9089844 9089844 + Missense_Mutation SNP C C A TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr19:9089844C>A uc002mkp.2 - 1 2175 c.1971G>T c.(1969-1971)AAG>AAT p.K657N NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 657 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 CAGCAGCCGTCTTGCTCACTG 0.532 NA 17 179 3.01185e-09 3.81547e-09 0.003954 1 0 OLFM2 93145 broad.mit.edu 37 19 9967991 9967991 + Silent SNP C C T TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr19:9967991C>T uc002mmp.2 - 4 556 c.528G>A c.(526-528)CAG>CAA p.Q176Q OLFM2_uc002mmo.2_Silent_p.Q98Q NM_058164 NP_477512 O95897 NOE2_HUMAN olfactomedin 2 precursor 176 Potential. extracellular region large_intestine(1)|skin(1) 2 TCACCCGTTGCTGCAGGTCCT 0.647 NA 37 100 0 0 0.006999 0 0 OLFM2 93145 broad.mit.edu 37 19 9968420 9968420 + Missense_Mutation SNP C C T TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr19:9968420C>T uc002mmp.2 - 3 359 c.331G>A c.(331-333)GAT>AAT p.D111N OLFM2_uc002mmo.2_Missense_Mutation_p.D33N NM_058164 NP_477512 O95897 NOE2_HUMAN olfactomedin 2 precursor 111 extracellular region large_intestine(1)|skin(1) 2 AGGGACCCATCAGCTGCCCGG 0.577 NA 35 61 0 0 0.003755 0 0 ISYNA1 51477 broad.mit.edu 37 19 18546722 18546722 + Missense_Mutation SNP T T C TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr19:18546722T>C uc002njd.1 - 8 1035 c.985A>G c.(985-987)ATC>GTC p.I329V ISYNA1_uc002nja.1_Missense_Mutation_p.I201V|ISYNA1_uc002njb.1_Missense_Mutation_p.I247V|ISYNA1_uc002njc.1_Missense_Mutation_p.I179V|ISYNA1_uc010xqh.1_Missense_Mutation_p.I127V|ISYNA1_uc002nje.1_Missense_Mutation_p.I275V|ISYNA1_uc002njf.1_Missense_Mutation_p.I179V NM_016368 NP_057452 Q9NPH2 INO1_HUMAN inositol-3-phosphate synthase 1 329 inositol biosynthetic process|phospholipid biosynthetic process cytoplasm binding|inositol-3-phosphate synthase activity ovary(1)|pancreas(1) 2 TAACTCACGATGGACATGGTC 0.627 NA 73 161 0 0 0.00361 0 0 GATAD2A 54815 broad.mit.edu 37 19 19609385 19609385 + Missense_Mutation SNP G G A TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr19:19609385G>A uc010xqt.1 + 8 1370 c.1058G>A c.(1057-1059)CGC>CAC p.R353H GATAD2A_uc010xqu.1_5'UTR|GATAD2A_uc010xqv.1_Missense_Mutation_p.R372H|GATAD2A_uc010xqw.1_Missense_Mutation_p.R180H NM_017660 NP_060130 Q86YP4 P66A_HUMAN GATA zinc finger domain containing 2A 353 DNA methylation|negative regulation of transcription, DNA-dependent nuclear speck|NuRD complex protein binding, bridging|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 CTGGCGCTGCGCAAACAGCTG 0.642 NA 3 34 0 0 0.000602 0 0 PBX4 80714 broad.mit.edu 37 19 19681554 19681554 + Silent SNP G G A TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr19:19681554G>A uc002nmy.2 - 3 283 c.282C>T c.(280-282)TGC>TGT p.C94C PBX4_uc010xqz.1_RNA|PBX4_uc010xra.1_5'UTR NM_025245 NP_079521 Q9BYU1 PBX4_HUMAN pre-B-cell leukemia homeobox 4 94 sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity large_intestine(1)|ovary(1) 2 TCTCGGGCCTGCACACGCCCT 0.572 NA 13 68 0 0 0.00245 0 0 ZNF208 7757 broad.mit.edu 37 19 22155180 22155180 + Missense_Mutation SNP C C T TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr19:22155180C>T uc002nqp.2 - 5 2505 c.2356G>A c.(2356-2358)GAG>AAG p.E786K ZNF208_uc002nqo.1_Intron NM_007153 NP_009084 zinc finger protein 208 ovary(5)|skin(2) 7 all_lung(12;0.0961)|Lung NSC(12;0.103) TAGGGTTTCTCTCCAGTATGA 0.378 NA 38 66 0 0 0.004289 0 0 ZNF99 7652 broad.mit.edu 37 19 22941575 22941575 + Missense_Mutation SNP C C G TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr19:22941575C>G uc010xrh.1 - 5 863 c.863G>C c.(862-864)AGC>ACC p.S288T NM_001080409 NP_001073878 zinc finger protein 99 ovary(1)|skin(1) 2 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102) TGACAAATTGCTAAAAGCTTT 0.373 NA 14 105 0 0 0.001855 0 0 CCDC123 84902 broad.mit.edu 37 19 33457284 33457284 + Missense_Mutation SNP G G A TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr19:33457284G>A uc002nty.2 - 2 217 c.128C>T c.(127-129)CCA>CTA p.P43L CCDC123_uc010edg.2_RNA|CCDC123_uc002ntz.1_Missense_Mutation_p.P43L|CCDC123_uc002nua.2_Missense_Mutation_p.P43L|CCDC123_uc002nub.1_5'UTR NM_032816 NP_116205 Q96ST8 CEP89_HUMAN coiled-coil domain containing 123 43 centrosome|spindle pole 0 Esophageal squamous(110;0.137) CTCTGGAGATGGGTTGGGGCT 0.572 NA 8 42 0 0 0.00308 0 0 COX6B1 1340 broad.mit.edu 37 19 36145541 36145541 + Missense_Mutation SNP C C T TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr19:36145541C>T uc002oav.2 + 3 337 c.175C>T c.(175-177)CGT>TGT p.R59C NM_001863 NP_001854 P14854 CX6B1_HUMAN cytochrome c oxidase subunit VIb polypeptide 1 59 respiratory electron transport chain mitochondrial inner membrane|mitochondrial intermembrane space cytochrome-c oxidase activity 0 all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) ATGGTACCAGCGTGTGTACCA 0.582 NA 16 106 0 0 0.003163 0 0 NPHS1 4868 broad.mit.edu 37 19 36322556 36322556 + Missense_Mutation SNP C C T rs144203682 byFrequency TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr19:36322556C>T uc002oby.2 - 24 3275 c.3275G>A c.(3274-3276)CGT>CAT p.R1092H NPHS1_uc010eem.1_Intron NM_004646 NP_004637 O60500 NPHN_HUMAN nephrin precursor 1092 Cytoplasmic (Potential). cell adhesion|excretion|muscle organ development integral to plasma membrane ovary(4)|skin(1) 5 all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) CTCAGCAAGACGCCTGAGTCT 0.647 NA 6 22 0 0 0.001984 0 0 IL28B 282617 broad.mit.edu 37 19 39734774 39734774 + Missense_Mutation SNP C C G TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr19:39734774C>G uc010xut.1 - 3 286 c.282G>C c.(280-282)TTG>TTC p.L94F IL28B_uc010xuu.1_Missense_Mutation_p.L94F NM_172139 NP_742151 Q8IZI9 IL28B_HUMAN interleukin 28B 94 response to virus extracellular space cytokine activity 0 all_cancers(60;2.81e-07)|all_lung(34;7.81e-08)|Lung NSC(34;9.29e-08)|all_epithelial(25;3.9e-07)|Ovarian(47;0.0315) Epithelial(26;1.55e-27)|all cancers(26;1.41e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335) GCTCAGCCTCCAAAGCCACGG 0.423 NA 16 49 0 0 0.003163 0 0 GMFG 9535 broad.mit.edu 37 19 39819649 39819649 + Missense_Mutation SNP C C A TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr19:39819649C>A uc002okz.3 - 6 458 c.348G>T c.(346-348)GAG>GAT p.E116D GMFG_uc002okx.3_Missense_Mutation_p.E116D NM_004877 NP_004868 O60234 GMFG_HUMAN glia maturation factor, gamma 116 ADF-H. protein phosphorylation intracellular actin binding|enzyme activator activity|growth factor activity|protein kinase inhibitor activity skin(1) 1 all_cancers(60;2.5e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512) Epithelial(26;1.15e-27)|all cancers(26;1.3e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335) CCTTTGTGAGCTCTGCTGTCT 0.552 NA 18 73 9.7654e-05 0.000107498 0.007413 1 0 IRGC 56269 broad.mit.edu 37 19 44223909 44223909 + Missense_Mutation SNP G G T TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr19:44223909G>T uc002oxh.2 + 2 1346 c.1199G>T c.(1198-1200)CGC>CTC p.R400L NM_019612 NP_062558 Q6NXR0 IIGP5_HUMAN immunity-related GTPase family, cinema 400 membrane GTP binding|hydrolase activity, acting on acid anhydrides ovary(1)|central_nervous_system(1)|skin(1) 3 Prostate(69;0.0435) CAGCGTGTCCGCATCAAGGCC 0.652 Colon(189;350 2037 11447 13433 38914) NA 6 22 0.00198382 0.00210732 0.001984 1 0 GRLF1 2909 broad.mit.edu 37 19 47422455 47422455 + Missense_Mutation SNP G G T TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr19:47422455G>T uc010ekv.2 + 1 523 c.523G>T c.(523-525)GAT>TAT p.D175Y NM_004491 NP_004482 Q9NRY4 RHG35_HUMAN glucocorticoid receptor DNA binding factor 1 175 axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent cytosol DNA binding|Rho GTPase activator activity|transcription corepressor activity central_nervous_system(1) 1 all_cancers(25;1.51e-09)|all_epithelial(76;1.87e-07)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|Ovarian(192;0.0129)|all_neural(266;0.026)|Breast(70;0.077) all cancers(93;2.03e-05)|OV - Ovarian serous cystadenocarcinoma(262;2.57e-05)|Epithelial(262;0.00135)|GBM - Glioblastoma multiforme(486;0.0289) TAGGAACTTTGATGACCAGCT 0.453 NA 10 74 0.000442599 0.000475707 0.006214 1 0 TMEM143 55260 broad.mit.edu 37 19 48845850 48845850 + Silent SNP G G A TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr19:48845850G>A uc002pix.1 - 6 921 c.912C>T c.(910-912)CTC>CTT p.L304L TMEM143_uc002piw.1_Intron|TMEM143_uc002piy.1_Silent_p.L269L|TMEM143_uc010xzn.1_Silent_p.L239L|TMEM143_uc010elw.1_Silent_p.L204L|TMEM143_uc010xzo.1_Silent_p.L94L NM_018273 NP_060743 Q96AN5 TM143_HUMAN transmembrane protein 143 304 Helical; (Potential). integral to membrane|mitochondrion 0 all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000149)|all cancers(93;0.000198)|Epithelial(262;0.0151)|GBM - Glioblastoma multiforme(486;0.0157) TGGCCACCTTGAGGTCGGTTA 0.672 NA 5 46 0 0 0.000602 0 0 ZNF611 81856 broad.mit.edu 37 19 53208882 53208882 + Missense_Mutation SNP C C T TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr19:53208882C>T uc002pzz.2 - 7 1743 c.1426G>A c.(1426-1428)GAC>AAC p.D476N ZNF611_uc010eqc.2_Missense_Mutation_p.D406N|ZNF611_uc010ydo.1_Missense_Mutation_p.D406N|ZNF611_uc010ydr.1_Missense_Mutation_p.D407N|ZNF611_uc010ydp.1_Missense_Mutation_p.D476N|ZNF611_uc010ydq.1_Missense_Mutation_p.D476N|ZNF611_uc002qaa.3_Missense_Mutation_p.D406N NM_030972 NP_112234 Q8N823 ZN611_HUMAN zinc finger protein 611 isoform a 476 C2H2-type 9; degenerate. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(262;0.0233)|GBM - Glioblastoma multiforme(134;0.04) TCTCCACAGTCAATTCTAGTA 0.378 NA 25 154 0 0 0.003954 0 0 ZNF845 91664 broad.mit.edu 37 19 53854476 53854476 + Missense_Mutation SNP G G C TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr19:53854476G>C uc010ydv.1 + 4 665 c.548G>C c.(547-549)AGG>ACG p.R183T ZNF845_uc010ydw.1_Missense_Mutation_p.R183T NM_138374 NP_612383 Q96IR2 ZN845_HUMAN zinc finger protein 845 183 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 ATTTCTTGTAGGCCTAAAACC 0.373 NA 33 73 0 0 0.010818 0 0 LILRA1 11024 broad.mit.edu 37 19 55106135 55106135 + Missense_Mutation SNP C C T TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr19:55106135C>T uc002qgh.1 + 4 258 c.76C>T c.(76-78)CTC>TTC p.L26F LILRA2_uc010yfg.1_Intron|LILRA1_uc010yfh.1_Missense_Mutation_p.L26F NM_006863 NP_006854 O75019 LIRA1_HUMAN leukocyte immunoglobulin-like receptor, 26 Extracellular (Potential). cell surface receptor linked signaling pathway|defense response|regulation of immune response integral to membrane|plasma membrane antigen binding|transmembrane receptor activity skin(2)|ovary(1) 3 GBM - Glioblastoma multiforme(193;0.0348) TCCAGGGACCCTCCCCAAGCC 0.587 NA 33 82 0 0 0.003271 0 0 SAPS1 22870 broad.mit.edu 37 19 55742243 55742243 + Missense_Mutation SNP T T A TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr19:55742243T>A uc002qjw.3 - 22 2711 c.2469A>T c.(2467-2469)AGA>AGT p.R823S TMEM86B_uc002qjt.2_5'Flank|TMEM86B_uc002qju.2_5'Flank|SAPS1_uc002qjv.2_Missense_Mutation_p.R885S NM_014931 NP_055746 Q9UPN7 PP6R1_HUMAN SAPS domain family, member 1 823 Pro-rich. regulation of phosphoprotein phosphatase activity cytoplasm protein phosphatase binding 0 Renal(1328;0.245) BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.0449) TAGAGGGGTCTCTGGTTGCAC 0.662 NA 17 26 0 0 0.004007 0 0 COX6B2 125965 broad.mit.edu 37 19 55865866 55865866 + Missense_Mutation SNP C C A TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr19:55865866C>A uc002qkn.2 - 2 207 c.24G>T c.(22-24)GAG>GAT p.E8D COX6B2_uc002qkm.2_RNA|COX6B2_uc002qko.2_RNA|COX6B2_uc002qkp.1_Missense_Mutation_p.S150I NM_144613 NP_653214 Q6YFQ2 CX6B2_HUMAN cytochrome c oxidase subunit VIb, 8 mitochondrial crista|mitochondrial intermembrane space cytochrome-c oxidase activity 0 Breast(117;0.191) Renal(1328;0.245) BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.0449) CCTTGGGGGGCTCCTGGGCTT 0.667 NSCLC(77;1057 1395 2148 36198 42783) NA 24 169 4.7796e-09 5.99923e-09 0.004656 1 0 ZNF579 163033 broad.mit.edu 37 19 56090015 56090015 + Missense_Mutation SNP C C A TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr19:56090015C>A uc002qlh.2 - 2 1044 c.991G>T c.(991-993)GCG>TCG p.A331S NM_152600 NP_689813 Q8NAF0 ZN579_HUMAN zinc finger protein 579 331 Gly-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 BRCA - Breast invasive adenocarcinoma(297;0.18) GBM - Glioblastoma multiforme(193;0.106) TTGCCCGCCGCGGGCAGCGGG 0.751 NA 7 15 1.58986e-06 1.85484e-06 0.008291 1 0 ZNF667 63934 broad.mit.edu 37 19 56954088 56954088 + Silent SNP G G T TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr19:56954088G>T uc002qnd.2 - 5 438 c.276C>A c.(274-276)ACC>ACA p.T92T ZNF667_uc010etl.2_5'UTR|ZNF667_uc002qne.2_Silent_p.T92T|ZNF667_uc010etm.2_Silent_p.T35T NM_022103 NP_071386 Q5HYK9 ZN667_HUMAN zinc finger protein 667 92 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding pancreas(1) 1 Colorectal(82;0.000256)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0615) GTAACTTCTTGGTCTCACATT 0.373 NA 53 87 5.82388e-19 9.13747e-19 0.00361 1 0 ZNF135 7694 broad.mit.edu 37 19 58579729 58579730 + Missense_Mutation DNP GG GG AA TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 GG GG - - GG GG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr19:58579729_58579730GG>AA uc010yhq.1 + 5 2009_2010 c.1913_1914GG>AA c.(1912-1914)AGG>AAA p.R638K ZNF135_uc002qre.2_Missense_Mutation_p.R626K|ZNF135_uc002qrd.1_Intron|ZNF135_uc002qrf.2_Missense_Mutation_p.R584K|ZNF135_uc002qrg.2_Missense_Mutation_p.R596K|ZNF135_uc010yhr.1_Missense_Mutation_p.R447K NM_003436 NP_003427 B4DHH9 B4DHH9_HUMAN zinc finger protein 135 isoform 2 638 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding ovary(1) 1 Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161) CAGCACCGGAGGATCCACACAG 0.545 NA 19 87 0 0 0.004672 0 0 TPO 7173 broad.mit.edu 37 2 1459915 1459915 + Missense_Mutation SNP C C A TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr2:1459915C>A uc002qww.2 + 7 771 c.680C>A c.(679-681)TCT>TAT p.S227Y TPO_uc010ewj.2_Intron|TPO_uc002qwu.2_Missense_Mutation_p.S227Y|TPO_uc002qwr.2_Missense_Mutation_p.S227Y|TPO_uc002qwx.2_Missense_Mutation_p.S227Y|TPO_uc010yio.1_Missense_Mutation_p.S227Y|TPO_uc010yip.1_Missense_Mutation_p.S227Y NM_000547 NP_000538 P07202 PERT_HUMAN thyroid peroxidase isoform a 227 Extracellular (Potential). cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process cell surface|cytoplasm|integral to plasma membrane calcium ion binding|heme binding|iodide peroxidase activity ovary(7)|pancreas(6)|skin(5)|lung(1)|kidney(1) 20 all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627) all_cancers(51;0.0338) all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12) Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550) GACCGCTATTCTGACCTCCTG 0.537 NA 10 71 3.07112e-06 3.5451e-06 0.010729 1 0 TPO 7173 broad.mit.edu 37 2 1491645 1491645 + Missense_Mutation SNP G G T TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr2:1491645G>T uc002qww.2 + 10 1741 c.1650G>T c.(1648-1650)CAG>CAT p.Q550H TPO_uc010ewj.2_Intron|TPO_uc002qwu.2_Intron|TPO_uc002qwr.2_Missense_Mutation_p.Q550H|TPO_uc002qwx.2_Intron|TPO_uc010yio.1_Missense_Mutation_p.Q377H|TPO_uc010yip.1_Missense_Mutation_p.Q550H|TPO_uc002qwy.1_Intron|TPO_uc002qwz.2_Intron NM_000547 NP_000538 P07202 PERT_HUMAN thyroid peroxidase isoform a 550 Extracellular (Potential). cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process cell surface|cytoplasm|integral to plasma membrane calcium ion binding|heme binding|iodide peroxidase activity ovary(7)|pancreas(6)|skin(5)|lung(1)|kidney(1) 20 all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627) all_cancers(51;0.0338) all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12) Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550) CCAAACTGCAGGTGCAGGATC 0.537 NA 10 95 5.16669e-11 6.9827e-11 0.010729 1 0 RSAD2 91543 broad.mit.edu 37 2 7036027 7036027 + Missense_Mutation SNP G G A TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr2:7036027G>A uc002qyp.1 + 6 1176 c.1040G>A c.(1039-1041)GGA>GAA p.G347E NM_080657 NP_542388 Q8WXG1 RSAD2_HUMAN radical S-adenosyl methionine domain containing 347 defense response to virus endoplasmic reticulum membrane|Golgi apparatus catalytic activity|iron-sulfur cluster binding|metal ion binding 0 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) OV - Ovarian serous cystadenocarcinoma(76;0.191) CTGAAGCGAGGAGGAAAATAC 0.443 NA 14 52 0 0 0.001855 0 0 NBAS 51594 broad.mit.edu 37 2 15492159 15492159 + Missense_Mutation SNP T T A TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr2:15492159T>A uc002rcc.1 - 35 4162 c.4136A>T c.(4135-4137)GAA>GTA p.E1379V NBAS_uc010exl.1_Missense_Mutation_p.E451V|NBAS_uc002rcd.1_RNA NM_015909 NP_056993 A2RRP1 NBAS_HUMAN neuroblastoma-amplified protein 1379 ovary(2)|liver(1)|skin(1) 4 ACTGATATTTTCCCCTCCTTC 0.368 NA 7 62 0 0 0.001984 0 0 KCNK3 3777 broad.mit.edu 37 2 26950707 26950707 + Silent SNP C C T rs112956865 TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr2:26950707C>T uc002rhn.2 + 2 619 c.456C>T c.(454-456)GCC>GCT p.A152A NM_002246 NP_002237 O14649 KCNK3_HUMAN potassium channel, subfamily K, member 3 152 Cytoplasmic (Potential). synaptic transmission integral to plasma membrane ovary(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TGCGGCGCGCCGACGTGTCCA 0.647 GBM(80;1457 1631 27100 45946) NA 11 99 0 0 0.001368 0 0 DPYSL5 56896 broad.mit.edu 37 2 27150120 27150120 + Splice_Site SNP G G T TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr2:27150120G>T uc002rhu.3 + 4 579 c.421_splice c.e4-1 p.V141_splice DPYSL5_uc002rhv.3_Splice_Site_p.V141_splice NM_020134 NP_064519 Q9BPU6 DPYL5_HUMAN dihydropyrimidinase-like 5 axon guidance|pyrimidine base catabolic process|signal transduction cytosol hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides ovary(2) 2 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TTGTTCTCCAGGTGAAAGCAG 0.577 NA 16 13 6.72482e-11 9.06606e-11 0.003163 1 0 BRE 9577 broad.mit.edu 37 2 28521252 28521252 + Nonsense_Mutation SNP C C T TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr2:28521252C>T uc002rlr.2 + 12 1300 c.982C>T c.(982-984)CAG>TAG p.Q328* BRE_uc002rlp.1_Nonsense_Mutation_p.Q328*|BRE_uc002rlq.2_Nonsense_Mutation_p.Q328*|BRE_uc002rls.2_Nonsense_Mutation_p.Q328*|BRE_uc002rlt.2_Nonsense_Mutation_p.Q328*|BRE_uc002rlu.2_Nonsense_Mutation_p.Q328*|BRE_uc002rlv.2_Nonsense_Mutation_p.Q190*|BRE_uc002rlx.2_RNA NM_199194 NP_954664 Q9NXR7 BRE_HUMAN brain and reproductive organ-expressed (TNFRSF1A 328 UEV-like 2. apoptosis|chromatin modification|double-strand break repair|G2/M transition DNA damage checkpoint|positive regulation of anti-apoptosis|positive regulation of DNA repair|response to ionizing radiation|signal transduction BRCA1-A complex|BRISC complex|cytoplasm|nuclear ubiquitin ligase complex peroxisome targeting sequence binding|polyubiquitin binding|tumor necrosis factor receptor binding lung(1)|kidney(1)|skin(1) 3 Acute lymphoblastic leukemia(172;0.155) TCTCACATTTCAGTCCGTTTA 0.428 NA 91 228 0 0 0.00361 0 0 C2orf71 388939 broad.mit.edu 37 2 29295827 29295827 + Missense_Mutation SNP C C A TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr2:29295827C>A uc002rmt.1 - 1 1301 c.1301G>T c.(1300-1302)TGC>TTC p.C434F NM_001029883 NP_001025054 A6NGG8 CB071_HUMAN hypothetical protein LOC388939 434 response to stimulus|visual perception photoreceptor outer segment skin(1) 1 ACTGGAGAGGCATGGGCTCCT 0.567 NA 61 97 2.93687e-30 5.29219e-30 0.00361 1 0 BIRC6 57448 broad.mit.edu 37 2 32667152 32667152 + Missense_Mutation SNP T T A TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr2:32667152T>A uc010ezu.2 + 18 4098 c.3964T>A c.(3964-3966)TTA>ATA p.L1322I NM_016252 NP_057336 Q9NR09 BIRC6_HUMAN baculoviral IAP repeat-containing 6 1322 anti-apoptosis|apoptosis intracellular acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1) 14 Acute lymphoblastic leukemia(172;0.155) ATGTGCCATGTTACAGTTTTC 0.383 Pancreas(94;175 1509 16028 18060 45422) NA 15 75 0 0 0.004007 0 0 FAM98A 25940 broad.mit.edu 37 2 33810265 33810265 + Missense_Mutation SNP G G A TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr2:33810265G>A uc002rpa.1 - 8 1209 c.1135C>T c.(1135-1137)CAT>TAT p.H379Y FAM98A_uc010yne.1_Missense_Mutation_p.H184Y|FAM98A_uc010ynd.1_Missense_Mutation_p.H210Y|FAM98A_uc002roz.1_Missense_Mutation_p.H217Y NM_015475 NP_056290 Q8NCA5 FA98A_HUMAN hypothetical protein LOC25940 380 Gly-rich. ovary(1) 1 all_hematologic(175;0.115) CCTCCTTGATGCTTATTTCCT 0.567 NA 67 125 0 0 0.00361 0 0 FAM98A 25940 broad.mit.edu 37 2 33810355 33810355 + Nonsense_Mutation SNP C C A TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr2:33810355C>A uc002rpa.1 - 8 1119 c.1045G>T c.(1045-1047)GGA>TGA p.G349* FAM98A_uc010yne.1_Nonsense_Mutation_p.G154*|FAM98A_uc010ynd.1_Nonsense_Mutation_p.G180*|FAM98A_uc002roz.1_Nonsense_Mutation_p.G187* NM_015475 NP_056290 Q8NCA5 FA98A_HUMAN hypothetical protein LOC25940 350 Gly-rich. ovary(1) 1 all_hematologic(175;0.115) CCTCGTCCTCCGTATGAGGAA 0.597 NA 47 105 8.48111e-28 1.47006e-27 0.00361 1 0 SLC8A1 6546 broad.mit.edu 37 2 40655830 40655830 + Missense_Mutation SNP T T A TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr2:40655830T>A uc002rrx.2 - 1 1615 c.1591A>T c.(1591-1593)ATT>TTT p.I531F SLC8A1_uc002rry.2_Missense_Mutation_p.I531F|SLC8A1_uc002rrz.2_Missense_Mutation_p.I531F|SLC8A1_uc002rsa.2_Missense_Mutation_p.I531F|SLC8A1_uc002rsd.3_Missense_Mutation_p.I531F|SLC8A1_uc002rsb.1_Missense_Mutation_p.I531F|SLC8A1_uc010fan.1_Missense_Mutation_p.I531F|SLC8A1_uc002rsc.1_Missense_Mutation_p.I531F NM_021097 NP_066920 P32418 NAC1_HUMAN solute carrier family 8 (sodium/calcium 531 Calx-beta 2.|Cytoplasmic (Potential). cell communication|muscle contraction|platelet activation integral to plasma membrane calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding ovary(1)|kidney(1)|central_nervous_system(1)|skin(1) 4 Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159) TCATCAAAAATAGTTACAGTG 0.438 NA 43 97 0 0 0.010771 0 0 NRXN1 9378 broad.mit.edu 37 2 50765580 50765580 + Missense_Mutation SNP G G T TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr2:50765580G>T uc010fbq.2 - 10 3551 c.2074C>A c.(2074-2076)CAA>AAA p.Q692K NRXN1_uc002rxb.3_Missense_Mutation_p.Q324K|NRXN1_uc002rxe.3_Missense_Mutation_p.Q652K|NRXN1_uc002rxc.1_RNA NM_001135659 NP_001129131 P58400 NRX1B_HUMAN neurexin 1 isoform alpha2 precursor Error:Variant_position_missing_in_P58400_after_alignment angiogenesis|neuron cell-cell adhesion|neuronal signal transduction cell surface|endocytic vesicle|integral to membrane|presynaptic membrane cell adhesion molecule binding|receptor binding ovary(2) 2 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192) Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116) TCTTTGCTTTGGCCATCGATG 0.507 NA 127 261 7.61515e-48 1.51747e-47 0.00361 1 0 LRRTM4 80059 broad.mit.edu 37 2 76975866 76975867 + Missense_Mutation DNP GG GG TT TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 GG GG - - GG GG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr2:76975866_76975867GG>TT uc002snr.2 - 4 2142_2143 c.1727_1728CC>AA c.(1726-1728)GCC>GAA p.A576E LRRTM4_uc002snq.2_Missense_Mutation_p.A576E NM_001134745 NP_001128217 Q86VH4 LRRT4_HUMAN leucine rich repeat transmembrane neuronal 4 576 Cytoplasmic (Potential). integral to membrane pancreas(3)|ovary(1) 4 Colorectal(11;0.059) CTGCCGACCTGGCGATGGTGGC 0.609 NA 36 139 0 0 0.004672 0 0 LRRTM4 80059 broad.mit.edu 37 2 76975892 76975892 + Missense_Mutation SNP C C A TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr2:76975892C>A uc002snr.2 - 4 2117 c.1702G>T c.(1702-1704)GAC>TAC p.D568Y LRRTM4_uc002snq.2_Missense_Mutation_p.D568Y NM_001134745 NP_001128217 Q86VH4 LRRT4_HUMAN leucine rich repeat transmembrane neuronal 4 568 Cytoplasmic (Potential). integral to membrane pancreas(3)|ovary(1) 4 Colorectal(11;0.059) AAGCTGTGGTCTCGGCCCAGC 0.607 NA 15 141 4.96729e-08 6.10842e-08 0.008871 1 0 LRRTM4 80059 broad.mit.edu 37 2 77745809 77745809 + Missense_Mutation SNP G G T TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr2:77745809G>T uc002snr.2 - 3 1601 c.1186C>A c.(1186-1188)CAA>AAA p.Q396K LRRTM4_uc002snq.2_Missense_Mutation_p.Q396K|LRRTM4_uc002sns.2_Missense_Mutation_p.Q396K|LRRTM4_uc002snt.2_Missense_Mutation_p.Q397K NM_001134745 NP_001128217 Q86VH4 LRRT4_HUMAN leucine rich repeat transmembrane neuronal 4 396 Extracellular (Potential). integral to membrane pancreas(3)|ovary(1) 4 Colorectal(11;0.059) AAGGTGGATTGGGTGACGTCA 0.493 NA 5 98 0.000602214 0.000643462 0.000602 1 0 INHBB 3625 broad.mit.edu 37 2 121107308 121107308 + Missense_Mutation SNP G G T TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr2:121107308G>T uc002tmn.2 + 2 1128 c.1082G>T c.(1081-1083)CGG>CTG p.R361L NM_002193 NP_002184 P09529 INHBB_HUMAN inhibin beta B subunit preproprotein 361 activin receptor signaling pathway|cellular response to insulin stimulus|cellular response to starvation|defense response|fat cell differentiation|growth|negative regulation of follicle-stimulating hormone secretion|negative regulation of hepatocyte growth factor biosynthetic process|negative regulation of insulin secretion|ovarian follicle development|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation extracellular region|perinuclear region of cytoplasm cytokine activity|growth factor activity|hormone activity|host cell surface receptor binding|protein homodimerization activity pancreas(2)|skin(1) 3 Prostate(154;0.122) TACCGCATGCGGGGTCTGAAC 0.607 NA 35 74 3.86903e-22 6.26852e-22 0.002836 1 0 MYO7B 4648 broad.mit.edu 37 2 128381727 128381727 + Missense_Mutation SNP G G T TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr2:128381727G>T uc002top.2 + 29 3854 c.3801G>T c.(3799-3801)CAG>CAT p.Q1267H MYO7B_uc002toq.1_Missense_Mutation_p.Q120H|MYO7B_uc002tor.1_Missense_Mutation_p.Q120H NM_001080527 NP_001073996 Q6PIF6 MYO7B_HUMAN myosin VIIB 1267 FERM 1. apical plasma membrane|myosin complex actin binding|ATP binding|motor activity ovary(1)|pancreas(1) 2 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0753) GGTGTGAGCAGATGGCCCAGG 0.662 NA 3 9 0.004672 0.00494363 0.004672 1 0 POTEF 728378 broad.mit.edu 37 2 130878085 130878085 + Missense_Mutation SNP C C T TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr2:130878085C>T uc010fmh.2 - 3 404 c.4G>A c.(4-6)GTG>ATG p.V2M NM_001099771 NP_001093241 A5A3E0 POTEF_HUMAN prostate, ovary, testis expressed protein on 2 cell cortex ATP binding skin(3)|ovary(2) 5 ACCTCAACCACCATCTGCTTT 0.527 NA 4 38 0 0 0.006214 0 0 FAM123C 205147 broad.mit.edu 37 2 131521360 131521360 + Missense_Mutation SNP C C T TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr2:131521360C>T uc002trw.2 + 2 1905 c.1715C>T c.(1714-1716)CCG>CTG p.P572L FAM123C_uc010fmv.2_Missense_Mutation_p.P572L|FAM123C_uc010fms.1_Missense_Mutation_p.P572L|FAM123C_uc010fmt.1_Missense_Mutation_p.P572L|FAM123C_uc010fmu.1_Missense_Mutation_p.P572L NM_152698 NP_689911 Q8N944 F123C_HUMAN hypothetical protein LOC205147 572 pancreas(2)|ovary(1) 3 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.13) TGGGCACACCCGGGCACCACA 0.677 NA 11 55 0 0 0.010729 0 0 LOC401010 401010 broad.mit.edu 37 2 132201174 132201174 + Silent SNP G G A TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr2:132201174G>A uc002tst.2 - 1 1294 c.828C>T c.(826-828)CCC>CCT p.P276P NR_002826 SubName: Full=cDNA FLJ12694 fis, clone NT2RP1000358, highly similar to Homo sapiens mRNA; cDNA DKFZp564C186 (from clone DKFZp564C186); 0 AGTAGAACAAGGGTTGGAGGG 0.582 NA 19 13 0 0 0.007413 0 0 LRP1B 53353 broad.mit.edu 37 2 141267498 141267498 + Silent SNP G G A TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr2:141267498G>A uc002tvj.1 - 52 9369 c.8397C>T c.(8395-8397)TGC>TGT p.C2799C NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 2799 Extracellular (Potential).|LDL-receptor class A 17. 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) TGTTCATACCGCAGCCTGCTG 0.507 Colon(99;50 2074 2507 20106) NA TSP Lung(27;0.18) 27 121 0 0 0.00632 0 0 SCN3A 6328 broad.mit.edu 37 2 165984466 165984466 + Missense_Mutation SNP C C A TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr2:165984466C>A uc002ucx.2 - 18 3560 c.3068G>T c.(3067-3069)CGG>CTG p.R1023L SCN3A_uc002ucy.2_Missense_Mutation_p.R974L|SCN3A_uc002ucz.2_Missense_Mutation_p.R974L|SCN3A_uc002uda.1_Missense_Mutation_p.R843L|SCN3A_uc002udb.1_Missense_Mutation_p.R843L NM_006922 NP_008853 Q9NY46 SCN3A_HUMAN sodium channel, voltage-gated, type III, alpha 1023 voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(4)|breast(3)|skin(2)|central_nervous_system(1) 10 Lamotrigine(DB00555) GAAACACTCCCGCATCTTATT 0.358 NA 29 78 1.32181e-22 2.16729e-22 0.007291 1 0 PPIG 9360 broad.mit.edu 37 2 170493474 170493475 + Missense_Mutation DNP GG GG CT TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 GG GG - - GG GG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr2:170493474_170493475GG>CT uc002uez.2 + 14 1926_1927 c.1706_1707GG>CT c.(1705-1707)AGG>ACT p.R569T PPIG_uc010fpx.2_Missense_Mutation_p.R554T|PPIG_uc010fpy.2_Missense_Mutation_p.R562T|PPIG_uc002ufb.2_Missense_Mutation_p.R569T|PPIG_uc002ufd.2_Missense_Mutation_p.R566T NM_004792 NP_004783 Q13427 PPIG_HUMAN peptidylprolyl isomerase G 569 Arg/Ser-rich (RS domain). protein folding|RNA splicing nuclear matrix|nuclear speck cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity ovary(2)|central_nervous_system(1) 3 L-Proline(DB00172) AGCAGAAGTAGGGACAGAAGCA 0.436 NA 8 55 0 0 0.004672 0 0 TTN 7273 broad.mit.edu 37 2 179396279 179396279 + Silent SNP G G A TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr2:179396279G>A uc010zfg.1 - 307 97583 c.97359C>T c.(97357-97359)GGC>GGT p.G32453G uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.G26148G|TTN_uc010zfi.1_Silent_p.G26081G|TTN_uc010zfj.1_Silent_p.G25956G|TTN_uc002umq.2_5'Flank NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 33380 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) CAGAAGCTTCGCCCTTGTAGT 0.507 NA 7 93 0 0 0.001984 0 0 TTN 7273 broad.mit.edu 37 2 179542347 179542347 + Splice_Site SNP C C A TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr2:179542347C>A uc010zfg.1 - 143 30783 c.30559_splice c.e143+1 p.V10187_splice TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Splice_Site_p.V6848_splice|TTN_uc010fre.1_Intron|TTN_uc002una.1_Splice_Site|TTN_uc010frf.1_Splice_Site NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 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) AGCTGCTATACCTGGTGCAGG 0.418 NA 18 36 3.41278e-10 4.47928e-10 0.00499 1 0 COL3A1 1281 broad.mit.edu 37 2 189849653 189849653 + Missense_Mutation SNP G G A TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr2:189849653G>A uc002uqj.1 + 2 364 c.247G>A c.(247-249)GAA>AAA p.E83K NM_000090 NP_000081 P02461 CO3A1_HUMAN collagen type III alpha 1 preproprotein 83 VWFC. axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway collagen type III|extracellular space extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding central_nervous_system(7)|ovary(4)|large_intestine(2) 13 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141) Collagenase(DB00048)|Palifermin(DB00039) TCCATTTGGAGAATGTTGTGC 0.398 NA 3 74 0 0 0.004672 0 0 SF3B1 23451 broad.mit.edu 37 2 198266709 198266709 + Missense_Mutation SNP C C G TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr2:198266709C>G uc002uue.2 - 15 2271 c.2223G>C c.(2221-2223)AAG>AAC p.K741N NM_012433 NP_036565 O75533 SF3B1_HUMAN splicing factor 3b, subunit 1 isoform 1 741 nuclear mRNA splicing, via spliceosome catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex protein binding pancreas(3)|ovary(1)|breast(1)|skin(1) 6 OV - Ovarian serous cystadenocarcinoma(117;0.246) GTGGATTTACCTTTCCTCTGT 0.343 NA 25 41 0 0 0.004656 0 0 MAP2 4133 broad.mit.edu 37 2 210574656 210574656 + Missense_Mutation SNP G G T TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr2:210574656G>T uc002vde.1 + 12 4999 c.4751G>T c.(4750-4752)AGA>ATA p.R1584I MAP2_uc002vdd.1_Missense_Mutation_p.R285I|MAP2_uc002vdf.1_Missense_Mutation_p.R228I|MAP2_uc002vdg.1_Missense_Mutation_p.R228I|MAP2_uc002vdh.1_Missense_Mutation_p.R285I|MAP2_uc002vdi.1_Missense_Mutation_p.R1580I NM_002374 NP_002365 P11137 MAP2_HUMAN microtubule-associated protein 2 isoform 1 1584 central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization cytoplasm|microtubule|microtubule associated complex beta-dystroglycan binding|calmodulin binding|structural molecule activity ovary(9)|upper_aerodigestive_tract(2)|large_intestine(2)|pancreas(2)|central_nervous_system(1)|skin(1) 17 Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202) UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18) Estramustine(DB01196) CCAATTCGCAGAGCAGGGAAG 0.498 Pancreas(27;423 979 28787 29963) NA 40 99 7.62715e-32 1.39746e-31 0.007835 1 0 SPAG16 79582 broad.mit.edu 37 2 214162030 214162030 + Silent SNP G G T TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr2:214162030G>T uc002veq.2 + 3 320 c.228G>T c.(226-228)CTG>CTT p.L76L SPAG16_uc010fuz.1_Missense_Mutation_p.W13L|SPAG16_uc002ver.2_Silent_p.L22L|SPAG16_uc010zjk.1_Missense_Mutation_p.W22L|SPAG16_uc002veo.2_Silent_p.L76L|SPAG16_uc002vep.1_Silent_p.L76L|SPAG16_uc002ves.1_Silent_p.L45L NM_024532 NP_078808 Q8N0X2 SPG16_HUMAN sperm associated antigen 16 isoform 1 76 cilium assembly cilium axoneme|flagellar axoneme ovary(1)|skin(1) 2 Renal(323;0.00461) UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599) AAGAAGATCTGGCAAAAGCAA 0.373 NA 8 67 1.12685e-05 1.28179e-05 0.004482 1 0 ALPI 248 broad.mit.edu 37 2 233321921 233321921 + Nonsense_Mutation SNP C C A TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr2:233321921C>A uc002vst.3 + 5 614 c.537C>A c.(535-537)TAC>TAA p.Y179* ALPI_uc002vsu.3_Nonsense_Mutation_p.Y90* NM_001631 NP_001622 P09923 PPBI_HUMAN intestinal alkaline phosphatase precursor 179 phosphorylation anchored to membrane|integral to membrane|plasma membrane alkaline phosphatase activity|metal ion binding|protein binding central_nervous_system(1) 1 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Epithelial(121;1.64e-16)|Kidney(3;9.71e-08)|KIRC - Kidney renal clear cell carcinoma(3;2.74e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000763)|Lung(119;0.00564)|LUSC - Lung squamous cell carcinoma(224;0.00746) CCGGCACCTACGCACACACAG 0.607 NA 10 105 3.86212e-05 4.29474e-05 0.008291 1 0 INPP5D 3635 broad.mit.edu 37 2 234112954 234112954 + Missense_Mutation SNP C C T TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr2:234112954C>T uc010zmo.1 + 25 3311 c.3158C>T c.(3157-3159)CCC>CTC p.P1053L INPP5D_uc010zmp.1_Missense_Mutation_p.P1052L NM_001017915 NP_001017915 Q92835 SHIP1_HUMAN SH2 containing inositol phosphatase isoform a 1053 Pro-rich. apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway cytosol inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding ovary(1)|central_nervous_system(1) 2 Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843) Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185) TGCCCGGAACCCGGCATCTTG 0.682 NSCLC(82;1215 1426 16163 20348 41018) NA 7 60 0 0 0.004482 0 0 UGT1A10 54575 broad.mit.edu 37 2 234545808 234545808 + Missense_Mutation SNP T T A TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr2:234545808T>A uc002vur.2 + 1 686 c.640T>A c.(640-642)TTG>ATG p.L214M UGT1A8_uc010zmv.1_Intron|UGT1A8_uc002vup.2_Intron|UGT1A10_uc002vuq.3_Missense_Mutation_p.L214M NM_019075 NP_061948 Q9HAW8 UD110_HUMAN UDP glycosyltransferase 1 family, polypeptide 214 flavone metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|protein kinase C binding ovary(2)|skin(1) 3 Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0334)|Lung NSC(271;0.0461)|Lung SC(224;0.128) Epithelial(121;1.96e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000468)|Lung(119;0.00381)|LUSC - Lung squamous cell carcinoma(224;0.008) CATCGTGCACTTGGAGGACCA 0.453 NA 68 311 0 0 0.00361 0 0 SNPH 9751 broad.mit.edu 37 20 1286120 1286120 + Missense_Mutation SNP G G T TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr20:1286120G>T uc002wes.2 + 6 1143 c.907G>T c.(907-909)GGT>TGT p.G303C SNPH_uc002wet.2_Missense_Mutation_p.G347C NM_014723 NP_055538 O15079 SNPH_HUMAN syntaphilin 303 synaptic vesicle docking involved in exocytosis cell junction|integral to membrane|synapse|synaptosome syntaxin-1 binding ovary(2) 2 CATGGAGGCTGGTGTGCAGGC 0.627 NA 38 97 4.29476e-34 7.97598e-34 0.00361 1 0 SIRPB2 284759 broad.mit.edu 37 20 1460697 1460697 + Missense_Mutation SNP C C A TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr20:1460697C>A uc002wfg.2 - 2 327 c.99G>T c.(97-99)CAG>CAT p.Q33H SIRPB2_uc002wfh.3_Missense_Mutation_p.Q33H|SIRPB2_uc010zpr.1_5'UTR NM_001122962 NP_001116434 Q5JXA9 SIRB2_HUMAN signal-regulatory protein beta 2 isoform 1 33 Ig-like V-type 1.|Extracellular (Potential). integral to membrane 0 TCCTGCTGCTCTGCCCAGAGG 0.527 NA 27 44 2.80507e-11 3.80042e-11 0.012213 1 0 SIGLEC1 6614 broad.mit.edu 37 20 3677979 3677979 + Silent SNP C C A TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr20:3677979C>A uc002wja.2 - 9 2133 c.2133G>T c.(2131-2133)CTG>CTT p.L711L SIGLEC1_uc002wiz.3_Silent_p.L711L NM_023068 NP_075556 Q9BZZ2 SN_HUMAN sialoadhesin precursor 711 Ig-like C2-type 7.|Extracellular (Potential). cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response extracellular region|integral to membrane|plasma membrane sugar binding pancreas(4)|ovary(2)|skin(2)|breast(1)|central_nervous_system(1) 10 GTGCAATGGCCAGGACAGTGG 0.637 NA 13 40 0.000219431 0.000237717 0.00245 1 0 XKR7 343702 broad.mit.edu 37 20 30585000 30585000 + Missense_Mutation SNP G G T TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr20:30585000G>T uc002wxe.2 + 3 1654 c.1480G>T c.(1480-1482)GGG>TGG p.G494W NM_001011718 NP_001011718 Q5GH72 XKR7_HUMAN XK, Kell blood group complex subunit-related 494 integral to membrane ovary(1)|breast(1)|skin(1) 3 Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347) AGAGCGTGCAGGGACCCCCAC 0.692 NA 9 72 7.48243e-07 8.86205e-07 0.006214 1 0 C20orf132 140699 broad.mit.edu 37 20 35737029 35737029 + Missense_Mutation SNP T T C TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr20:35737029T>C uc010zvu.1 - 25 3074 c.2983A>G c.(2983-2985)AGG>GGG p.R995G C20orf132_uc002xgk.2_Missense_Mutation_p.R617G NM_152503 NP_689716 Q9H579 CT132_HUMAN hypothetical protein LOC140699 isoform 1 Error:Variant_position_missing_in_Q9H579_after_alignment 0 Myeloproliferative disorder(115;0.00878) GTACCCATCCTCCTGAGCTCA 0.453 NA 3 10 0 0 0.009096 0 0 SLC12A5 57468 broad.mit.edu 37 20 44664173 44664173 + Missense_Mutation SNP A A T TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr20:44664173A>T uc010zxl.1 + 3 423 c.347A>T c.(346-348)CAG>CTG p.Q116L SLC12A5_uc002xra.2_Missense_Mutation_p.Q93L|SLC12A5_uc010zxm.1_RNA|SLC12A5_uc002xrb.2_Missense_Mutation_p.Q93L NM_001134771 NP_001128243 Q9H2X9 S12A5_HUMAN solute carrier family 12 (potassium-chloride 116 Cytoplasmic (Potential). potassium ion transport|sodium ion transport integral to membrane potassium:chloride symporter activity ovary(2)|large_intestine(1)|central_nervous_system(1)|skin(1) 5 Myeloproliferative disorder(115;0.0122) Bumetanide(DB00887)|Potassium Chloride(DB00761) AAGCCGGTGCAGGTGAGGACC 0.323 NA 28 65 0 0 0.008361 0 0 ADAMTS5 11096 broad.mit.edu 37 21 28296390 28296390 + Nonsense_Mutation SNP G G T TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr21:28296390G>T uc002ymg.2 - 8 3504 c.2775C>A c.(2773-2775)TGC>TGA p.C925* NM_007038 NP_008969 Q9UNA0 ATS5_HUMAN ADAM metallopeptidase with thrombospondin type 1 925 TSP type-1 2. proteolysis proteinaceous extracellular matrix integrin binding|metalloendopeptidase activity|zinc ion binding upper_aerodigestive_tract(2)|ovary(1)|pancreas(1) 4 TCTTCAACAAGCATTGCTTAA 0.478 Esophageal Squamous(53;683 1080 10100 14424 45938) NA 24 60 6.44725e-10 8.40143e-10 0.002299 1 0 USP16 10600 broad.mit.edu 37 21 30415863 30415863 + Silent SNP T T C TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr21:30415863T>C uc002ymy.2 + 13 1501 c.1299T>C c.(1297-1299)TCT>TCC p.S433S USP16_uc002ymx.2_Silent_p.S432S|USP16_uc002ymw.2_Silent_p.S433S|USP16_uc011acm.1_Silent_p.S418S|USP16_uc011acn.1_Silent_p.S99S|USP16_uc011aco.1_Silent_p.S123S NM_006447 NP_006438 Q9Y5T5 UBP16_HUMAN ubiquitin specific protease 16 isoform a 433 cell division|histone deubiquitination|mitosis|positive regulation of transcription, DNA-dependent|protein homotetramerization|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process cytoplasm|nucleus cysteine-type endopeptidase activity|histone binding|transcription coactivator activity|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding ovary(2)|breast(1)|pancreas(1) 4 ATATTCCTTCTGGAACAAGTA 0.333 Melanoma(92;625 1444 27493 34101 44971) NA 11 46 0 0 0.010729 0 0 KRTAP10-12 386685 broad.mit.edu 37 21 46117289 46117289 + Missense_Mutation SNP T T A TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr21:46117289T>A uc002zfw.1 + 1 203 c.173T>A c.(172-174)GTA>GAA p.V58E C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron NM_198699 NP_941972 P60413 KR10C_HUMAN keratin associated protein 10-12 58 19 X 5 AA repeats of C-C-X(3). keratin filament 0 GTGAGCCGTGTATCCAGCCCC 0.692 NA 26 149 0 0 0.003954 0 0 CCT8L2 150160 broad.mit.edu 37 22 17072820 17072820 + Silent SNP C C G TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr22:17072820C>G uc002zlp.1 - 1 881 c.621G>C c.(619-621)GCG>GCC p.A207A NM_014406 NP_055221 Q96SF2 TCPQM_HUMAN T-complex protein 1 207 cellular protein metabolic process cytoplasm anion channel activity|ATP binding|calcium-activated potassium channel activity p.A207V(1) ovary(1) 1 all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977) all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175) CCCCGGGCAGCGCGCACACCC 0.617 NA 20 116 0 0 0.001882 0 0 CECR5 27440 broad.mit.edu 37 22 17630516 17630516 + Silent SNP C C G TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr22:17630516C>G uc002zmf.2 - 2 274 c.246G>C c.(244-246)CGG>CGC p.R82R CECR5_uc002zme.2_5'Flank|CECR5_uc002zmg.2_Intron|CECR5_uc002zmh.2_Silent_p.R52R NM_033070 NP_149061 Q9BXW7 CECR5_HUMAN cat eye syndrome chromosome region, candidate 5 82 hydrolase activity 0 all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132) CCACGGGCACCCGCAGCTGCC 0.587 NA 90 185 0 0 0.00361 0 0 IL2RB 3560 broad.mit.edu 37 22 37533689 37533689 + Missense_Mutation SNP G G T TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr22:37533689G>T uc003aqv.1 - 6 606 c.475C>A c.(475-477)CAC>AAC p.H159N NM_000878 NP_000869 P14784 IL2RB_HUMAN interleukin 2 receptor beta precursor 159 Extracellular (Potential).|Fibronectin type-III. interspecies interaction between organisms|positive regulation of survival gene product expression|protein complex assembly external side of plasma membrane|integral to plasma membrane interleukin-2 receptor activity 0 Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004) TCAAAGTAGTGGGAGGCTTGG 0.587 NA 27 115 1.42536e-11 1.94561e-11 0.004656 1 0 SH3BP1 23616 broad.mit.edu 37 22 38040934 38040934 + Missense_Mutation SNP C C A TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr22:38040934C>A uc003ati.2 + 9 856 c.745C>A c.(745-747)CTG>ATG p.L249M SH3BP1_uc003atg.1_RNA|SH3BP1_uc011anl.1_Missense_Mutation_p.L249M|SH3BP1_uc003ath.1_Missense_Mutation_p.L249M|SH3BP1_uc003atj.1_Missense_Mutation_p.L185M|SH3BP1_uc003atk.1_Missense_Mutation_p.L163M|uc003atl.1_Intron NM_018957 NP_061830 Q9Y3L3 3BP1_HUMAN SH3-domain binding protein 1 249 BAR. signal transduction cytoplasm GTPase activator activity|SH3 domain binding central_nervous_system(1) 1 Melanoma(58;0.0574) GGACACAGCCCTGGCTGAGCT 0.627 NA 6 51 0.00307968 0.00326506 0.00308 1 0 A4GALT 53947 broad.mit.edu 37 22 43089605 43089605 + Missense_Mutation SNP G G A TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr22:43089605G>A uc003bdb.2 - 3 614 c.353C>T c.(352-354)CCG>CTG p.P118L A4GALT_uc010gzd.2_Missense_Mutation_p.P118L NM_017436 NP_059132 Q9NPC4 A4GAT_HUMAN alpha 1,4-galactosyltransferase 118 Lumenal (Potential). glycosphingolipid biosynthetic process|plasma membrane organization Golgi stack|integral to Golgi membrane|membrane fraction lactosylceramide 4-alpha-galactosyltransferase activity central_nervous_system(2) 2 GTTGCCACCCGGAAGCCCTTT 0.632 NA 5 223 0 0 0.00308 0 0 PARVG 64098 broad.mit.edu 37 22 44581730 44581730 + Missense_Mutation SNP C C A TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr22:44581730C>A uc011aqe.1 + 4 546 c.122C>A c.(121-123)CCC>CAC p.P41H PARVG_uc010gzo.2_Missense_Mutation_p.P108H|PARVG_uc010gzp.2_RNA|PARVG_uc003bep.2_Missense_Mutation_p.P41H|PARVG_uc010gzq.1_RNA|PARVG_uc010gzr.1_RNA|PARVG_uc011aqf.1_Missense_Mutation_p.P41H|PARVG_uc003beq.2_RNA|PARVG_uc003ber.2_RNA NM_001137605 NP_001131077 Q9HBI0 PARVG_HUMAN parvin, gamma 41 cell-matrix adhesion cytoplasm|cytoskeleton|focal adhesion actin binding 0 Ovarian(80;0.024)|all_neural(38;0.0299) CGGAAGGACCCCAAATTTGAA 0.612 NA 8 31 0.000157383 0.000171863 0.00308 1 0 PLXNB2 23654 broad.mit.edu 37 22 50719028 50719028 + Silent SNP C C A TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr22:50719028C>A uc003bkv.3 - 25 4171 c.4065G>T c.(4063-4065)ACG>ACT p.T1355T PLXNB2_uc003bkt.1_Silent_p.T147T|PLXNB2_uc003bku.1_Silent_p.T340T NM_012401 NP_036533 O15031 PLXB2_HUMAN plexin B2 precursor 1355 Cytoplasmic (Potential). regulation of small GTPase mediated signal transduction integral to membrane|intracellular GTPase activator activity|protein binding|receptor activity ovary(4)|central_nervous_system(1)|skin(1) 6 all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) GCAGCGCCACCGTCAGCAGGG 0.627 NA 11 91 4.68919e-08 5.77945e-08 0.008291 1 0 SBF1 6305 broad.mit.edu 37 22 50900255 50900255 + Silent SNP C C A TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr22:50900255C>A uc003blh.2 - 21 2808 c.2613G>T c.(2611-2613)CGG>CGT p.R871R SBF1_uc011arx.1_Silent_p.R535R|SBF1_uc003bli.2_Silent_p.R872R NM_002972 NP_002963 O95248 MTMR5_HUMAN SET binding factor 1 871 protein dephosphorylation integral to membrane|nucleus protein tyrosine/serine/threonine phosphatase activity 0 all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247) TCCGGCTCTCCCGCTGCACGG 0.647 NA 27 70 1.74807e-11 2.37424e-11 0.010818 1 0 ATP2B2 491 broad.mit.edu 37 3 10420009 10420009 + Silent SNP G G A TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr3:10420009G>A uc003bvt.2 - 10 1567 c.1128C>T c.(1126-1128)GCC>GCT p.A376A ATP2B2_uc003bvv.2_Silent_p.A331A|ATP2B2_uc003bvw.2_Silent_p.A331A|ATP2B2_uc010hdo.2_Silent_p.A81A NM_001001331 NP_001001331 Q01814 AT2B2_HUMAN plasma membrane calcium ATPase 2 isoform 1 376 Cytoplasmic (Potential). ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation cytosol|integral to membrane|plasma membrane ATP binding|ATP binding|calcium ion binding|calcium-transporting ATPase activity|calcium-transporting ATPase activity|calmodulin binding|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding ovary(3)|skin(2)|central_nervous_system(1) 6 TGTGCATGCTGGCCTTCTTCC 0.647 Ovarian(125;1619 1709 15675 19819 38835) NA 27 145 0 0 0.004656 0 0 TMEM40 55287 broad.mit.edu 37 3 12777053 12777053 + Splice_Site SNP C C T TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr3:12777053C>T uc003bxg.1 - 11 809 c.682_splice c.e11+1 p.G228_splice TMEM40_uc003bxh.1_Splice_Site_p.G198_splice|TMEM40_uc003bxi.1_Splice_Site_p.G152_splice|TMEM40_uc011auv.1_Splice_Site_p.G244_splice NM_018306 NP_060776 Q8WWA1 TMM40_HUMAN transmembrane protein 40 integral to membrane 0 TTAAAAGTTACCTGTCAGCCT 0.378 NA 21 109 0 0 0.00278 0 0 FBLN2 2199 broad.mit.edu 37 3 13679148 13679148 + Missense_Mutation SNP C C T TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr3:13679148C>T uc011avb.1 + 17 3409 c.3284C>T c.(3283-3285)ACG>ATG p.T1095M FBLN2_uc011auz.1_Missense_Mutation_p.T1121M|FBLN2_uc011ava.1_Missense_Mutation_p.T1142M|FBLN2_uc011avc.1_Missense_Mutation_p.T1142M NM_001998 NP_001989 P98095 FBLN2_HUMAN fibulin 2 isoform b precursor 1095 Domain III. proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent ovary(1) 1 UCEC - Uterine corpus endometrioid carcinoma (1;0.00416) AACTTCCAGACGGGCCTCCTG 0.627 NA 13 41 0 0 0.001368 0 0 CHCHD4 131474 broad.mit.edu 37 3 14154566 14154566 + Missense_Mutation SNP C C T TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr3:14154566C>T uc003byj.3 - 3 445 c.250G>A c.(250-252)GGG>AGG p.G84R CHCHD4_uc003byi.3_Missense_Mutation_p.G97R NM_001098502 NP_001091972 Q8N4Q1 MIA40_HUMAN coiled-coil-helix-coiled-coil-helix domain 84 CHCH. protein transport|transmembrane transport mitochondrial intermembrane space 0 CAGTCTGACCCCTTGATCTCC 0.468 NA 14 82 0 0 0.00245 0 0 NEK10 152110 broad.mit.edu 37 3 27329206 27329206 + Missense_Mutation SNP T T A TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr3:27329206T>A uc003cdt.1 - 21 2046 c.1772A>T c.(1771-1773)TAC>TTC p.Y591F NEK10_uc003cds.1_5'UTR NM_199347 NP_955379 Q6ZWH5 NEK10_HUMAN NIMA-related kinase 10 isoform 3 591 Protein kinase. ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(5)|stomach(2)|central_nervous_system(2)|lung(2)|skin(1)|pancreas(1) 13 AAATGTTTTGTAATAACGTAC 0.264 NA 4 40 0 0 0.001168 0 0 AZI2 64343 broad.mit.edu 37 3 28381959 28381959 + Silent SNP T T C TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr3:28381959T>C uc003ceb.2 - 2 682 c.150A>G c.(148-150)AAA>AAG p.K50K AZI2_uc003cec.2_5'UTR|AZI2_uc003ced.2_Silent_p.K50K|AZI2_uc003cee.3_Silent_p.K50K|AZI2_uc003ceg.2_Silent_p.K50K|AZI2_uc011axd.1_Silent_p.K50K|AZI2_uc003cef.2_Silent_p.K50K NM_022461 NP_071906 Q9H6S1 AZI2_HUMAN 5-azacytidine induced 2 isoform a 50 Potential. mitochondrion|plasma membrane ovary(2) 2 CCTTAAGTCGTTTTTTGATGT 0.343 NA 29 59 0 0 0.005443 0 0 VILL 50853 broad.mit.edu 37 3 38040837 38040837 + Silent SNP G G T TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr3:38040837G>T uc003chj.2 + 11 1375 c.1089G>T c.(1087-1089)TCG>TCT p.S363S VILL_uc003chl.2_Silent_p.S363S|VILL_uc010hgu.2_Silent_p.S193S NM_015873 NP_056957 O15195 VILL_HUMAN villin-like protein 363 actin filament capping|cytoskeleton organization actin cytoskeleton actin binding|structural constituent of cytoskeleton 0 KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661) CAGATAAATCGATTCATGTAA 0.617 NA 12 60 0.000151284 0.000165534 0.001855 1 0 SCN5A 6331 broad.mit.edu 37 3 38622447 38622447 + Missense_Mutation SNP C C A TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr3:38622447C>A uc003cio.2 - 17 3397 c.3203G>T c.(3202-3204)GGC>GTC p.G1068V SCN5A_uc003cin.2_Missense_Mutation_p.G1068V|SCN5A_uc003cil.3_Missense_Mutation_p.G1068V|SCN5A_uc010hhi.2_Missense_Mutation_p.G1068V|SCN5A_uc010hhk.2_Missense_Mutation_p.G1068V|SCN5A_uc011ayr.1_Missense_Mutation_p.G1068V|SCN5A_uc010hhj.1_Missense_Mutation_p.G679V NM_198056 NP_932173 Q14524 SCN5A_HUMAN voltage-gated sodium channel type V alpha 1068 blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction sarcolemma|voltage-gated sodium channel complex protein binding|voltage-gated sodium channel activity ovary(4)|pancreas(2)|skin(2)|central_nervous_system(1) 9 Medulloblastoma(35;0.163) KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1) Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661) CTCCTCCGTGCCCAGGCTGTT 0.632 NA 10 35 3.86212e-05 4.29474e-05 0.008291 1 0 ZNF621 285268 broad.mit.edu 37 3 40573808 40573808 + Missense_Mutation SNP G G C TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr3:40573808G>C uc003ckm.2 + 5 763 c.547G>C c.(547-549)GAG>CAG p.E183Q ZNF621_uc003ckn.2_Missense_Mutation_p.E183Q|ZNF621_uc003cko.2_Missense_Mutation_p.E148Q|ZNF621_uc011aze.1_Missense_Mutation_p.E175Q NM_001098414 NP_001091884 Q6ZSS3 ZN621_HUMAN zinc finger protein 621 183 C2H2-type 2. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(284;0.0515)|Kidney(284;0.0648) TAAGTGTAAGGAGTGTGGCAA 0.403 NA 35 64 0 0 0.003755 0 0 LTF 4057 broad.mit.edu 37 3 46496816 46496817 + Nonsense_Mutation DNP CC CC AA TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 CC CC - - CC CC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr3:46496816_46496817CC>AA uc003cpq.2 - 5 653_654 c.615_616GG>TT c.(613-618)CAGGAA>CATTAA p.205_206QE>H* LTF_uc003fzr.2_Nonsense_Mutation_p.161_162QE>H*|LTF_uc010hjh.2_Nonsense_Mutation_p.205_206QE>H*|LTF_uc003cpr.2_Nonsense_Mutation_p.192_193QE>H* NM_002343 NP_002334 P02788 TRFL_HUMAN lactotransferrin precursor 205_206 Transferrin-like 1. cellular iron ion homeostasis|defense response to bacterium|humoral immune response|iron ion transport extracellular region|stored secretory granule ferric iron binding|heparin binding|protein binding|serine-type endopeptidase activity central_nervous_system(2)|ovary(1)|lung(1) 4 all cancers(1;7.55e-14)|GBM - Glioblastoma multiforme(1;2.1e-09)|Epithelial(1;9.25e-07)|Colorectal(1;3.81e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00129)|COAD - Colon adenocarcinoma(1;0.00308)|KIRC - Kidney renal clear cell carcinoma(197;0.0205)|Kidney(197;0.0242)|OV - Ovarian serous cystadenocarcinoma(275;0.089) Pefloxacin(DB00487) AAGTACGGTTCCTGGGAGGAGA 0.579 NA 15 88 0 0 0.004672 0 0 COL7A1 1294 broad.mit.edu 37 3 48618353 48618353 + Missense_Mutation SNP G G T TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr3:48618353G>T uc003ctz.2 - 53 4943 c.4942C>A c.(4942-4944)CCG>ACG p.P1648T MIR711_hsa-mir-711|MI0012488_5'Flank NM_000094 NP_000085 Q02388 CO7A1_HUMAN alpha 1 type VII collagen precursor 1648 Triple-helical region. cell adhesion|epidermis development basement membrane|collagen type VII protein binding|serine-type endopeptidase inhibitor activity ovary(4)|breast(3)|skin(3)|central_nervous_system(1) 11 BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) GGCAAACCCGGGTCACCCTGG 0.557 NA 16 40 5.3912e-06 6.18403e-06 0.006122 1 0 CDHR4 389118 broad.mit.edu 37 3 49836271 49836271 + Silent SNP G G T TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr3:49836271G>T uc010hkz.2 - 4 492 c.483C>A c.(481-483)CTC>CTA p.L161L CDHR4_uc003cxp.2_Missense_Mutation_p.P187T|CDHR4_uc011bcw.1_Silent_p.L161L NM_001007540 NP_001007541 A6H8M9 CDHR4_HUMAN cadherin-like 29 precursor 161 Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 GCGCTCCGTGGAGTTCTAGGC 0.612 NA 9 31 0.00621372 0.00654959 0.006214 1 0 IFRD2 7866 broad.mit.edu 37 3 50326124 50326124 + Nonsense_Mutation SNP C C A TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr3:50326124C>A uc011bdp.1 - 10 1363 c.1234G>T c.(1234-1236)GAG>TAG p.E412* IFRD2_uc003czb.2_Nonsense_Mutation_p.E514* NM_006764 NP_006755 Q12894 IFRD2_HUMAN interferon-related developmental regulator 2 412 binding lung(2)|ovary(1) 3 BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607) CGCACTATCTCTTCTTCGCAT 0.582 NA 22 28 1.28384e-07 1.55427e-07 0.001882 1 0 FAM86D 692099 broad.mit.edu 37 3 75476630 75476630 + Silent SNP T T G TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr3:75476630T>G uc003dpp.3 - 6 794 c.435A>C c.(433-435)GTA>GTC p.V145V FAM86D_uc003dpo.3_Intron|FAM86D_uc003dps.3_Intron|FAM86D_uc003dpq.3_Silent_p.V53V|FAM86D_uc003dpr.3_Intron NR_024241 RecName: Full=Protein FAM86B1; 0 GGACCGTCGCTACGTCCCAGT 0.582 NA 5 54 0 0 0.001984 0 0 ROBO2 6092 broad.mit.edu 37 3 77684057 77684057 + Missense_Mutation SNP C C A TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr3:77684057C>A uc003dpy.3 + 24 4440 c.3797C>A c.(3796-3798)ACC>AAC p.T1266N ROBO2_uc003dpz.2_Missense_Mutation_p.T1331N|ROBO2_uc011bgj.1_RNA|ROBO2_uc011bgk.1_Missense_Mutation_p.T1270N NM_002942 NP_002933 Q9HCK4 ROBO2_HUMAN roundabout, axon guidance receptor, homolog 2 1266 Cytoplasmic (Potential). apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development axolemma|cell surface|integral to membrane axon guidance receptor activity|identical protein binding lung(5)|skin(3)|ovary(1)|large_intestine(1)|liver(1) 11 Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103) CCTCGACCTACCAGCCCATTT 0.463 NA 37 94 1.07121e-22 1.76168e-22 0.006999 1 0 VGLL3 389136 broad.mit.edu 37 3 87018101 87018101 + Silent SNP C C A TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr3:87018101C>A uc003dqn.2 - 3 940 c.576G>T c.(574-576)CTG>CTT p.L192L NM_016206 NP_057290 A8MV65 VGLL3_HUMAN colon carcinoma related protein 192 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus 0 all_cancers(8;0.109)|Lung SC(3;0.184) Lung NSC(201;0.0777) LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712) CAGTCTGATGCAGGTTGTGTC 0.582 NA 24 130 7.88262e-20 1.24751e-19 0.00333 1 0 DHFRL1 200895 broad.mit.edu 37 3 93780055 93780055 + Missense_Mutation SNP T T A TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr3:93780055T>A uc003dri.2 - 2 467 c.301A>T c.(301-303)ACT>TCT p.T101S DHFRL1_uc003drj.2_Missense_Mutation_p.T101S|NSUN3_uc003drk.2_5'Flank|NSUN3_uc003drl.1_5'Flank NM_176815 NP_789785 Q86XF0 DYRL1_HUMAN dihydrofolate reductase-like 1 101 DHFR. glycine biosynthetic process|nucleotide biosynthetic process|one-carbon metabolic process dihydrofolate reductase activity|NADP binding 0 GGTCGTTCAGTAAGTTTTAAG 0.378 NA 15 179 0 0 0.00245 0 0 GPR128 84873 broad.mit.edu 37 3 100373932 100373932 + Missense_Mutation SNP G G A TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr3:100373932G>A uc003duc.2 + 12 1901 c.1633G>A c.(1633-1635)GCA>ACA p.A545T GPR128_uc011bhc.1_Missense_Mutation_p.A246T|GPR128_uc003dud.2_Missense_Mutation_p.A68T NM_032787 NP_116176 Q96K78 GP128_HUMAN G protein-coupled receptor 128 precursor 545 Helical; Name=3; (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity ovary(3)|skin(1) 4 TACCTGGAACGCACTCAGCGC 0.458 Pancreas(87;185 1975 7223 18722) NA 38 199 0 0 0.010771 0 0 KIAA2018 205717 broad.mit.edu 37 3 113388977 113388977 + Silent SNP G G A TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr3:113388977G>A uc003eam.2 - 5 561 c.150C>T c.(148-150)GCC>GCT p.A50A KIAA2018_uc003eal.2_5'UTR NM_001009899 NP_001009899 Q68DE3 K2018_HUMAN hypothetical protein LOC205717 50 Helix-loop-helix motif. regulation of transcription, DNA-dependent membrane|nucleus calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity skin(2)|ovary(1) 3 CCTGCTTCAGGGCAGGAGAAC 0.368 NA 11 104 0 0 0.010729 0 0 IGSF11 152404 broad.mit.edu 37 3 118624531 118624531 + Silent SNP G G T TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr3:118624531G>T uc003ebw.2 - 5 862 c.615C>A c.(613-615)ATC>ATA p.I205I IGSF11_uc011biv.1_Silent_p.I205I|IGSF11_uc003ebx.2_Silent_p.I205I|IGSF11_uc003eby.2_Silent_p.I204I|IGSF11_uc003ebz.2_Silent_p.I204I|IGSF11_uc010hqs.2_Silent_p.I204I NM_001015887 NP_001015887 Q5DX21 IGS11_HUMAN immunoglobulin superfamily, member 11 isoform b 205 Ig-like C2-type.|Extracellular (Potential). cell adhesion|regulation of growth integral to membrane|plasma membrane receptor activity 0 ACAGGGCACTGATGTTCCGGA 0.473 NA 13 87 1.61879e-10 2.15576e-10 0.001368 1 0 C3orf1 51300 broad.mit.edu 37 3 119222382 119222382 + Missense_Mutation SNP T T G TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr3:119222382T>G uc003ecn.2 + 3 577 c.364T>G c.(364-366)TCT>GCT p.S122A C3orf1_uc003eco.2_RNA|C3orf1_uc003ecp.2_RNA NM_016589 NP_057673 Q9NPL8 TIDC1_HUMAN hypothetical protein LOC51300 122 integral to membrane|mitochondrial inner membrane protein transporter activity 0 GBM - Glioblastoma multiforme(114;0.186) ACTTTAGCAATCTGCACATCG 0.418 NA 5 28 0 0 0.001984 0 0 STXBP5L 9515 broad.mit.edu 37 3 120952514 120952514 + Missense_Mutation SNP T T C TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr3:120952514T>C uc003eec.3 + 12 1303 c.1163T>C c.(1162-1164)GTA>GCA p.V388A STXBP5L_uc011bji.1_Missense_Mutation_p.V388A NM_014980 NP_055795 Q9Y2K9 STB5L_HUMAN syntaxin binding protein 5-like 388 WD 7. exocytosis|protein transport cytoplasm|integral to membrane|plasma membrane ovary(7)|skin(2) 9 GBM - Glioblastoma multiforme(114;0.0694) GATCTCATTGTAGTTGATCTG 0.284 NA 11 42 0 0 0.003163 0 0 SLC12A8 84561 broad.mit.edu 37 3 124802813 124802813 + Missense_Mutation SNP T T A TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr3:124802813T>A uc003ehv.3 - 14 2177 c.2066A>T c.(2065-2067)GAG>GTG p.E689V SLC12A8_uc003ehw.3_Missense_Mutation_p.E718V|SLC12A8_uc003eht.3_Missense_Mutation_p.E490V|SLC12A8_uc003ehu.3_Missense_Mutation_p.E442V|SLC12A8_uc010hry.2_3'UTR NM_024628 NP_078904 A0AV02 S12A8_HUMAN solute carrier family 12, member 8 689 potassium ion transport integral to membrane symporter activity 0 GTCTGCATTCTCCTGGGTGAG 0.587 NA 15 33 0 0 0.003163 0 0 DZIP1L 199221 broad.mit.edu 37 3 137816623 137816623 + Missense_Mutation SNP C C T TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr3:137816623C>T uc003erq.2 - 3 931 c.568G>A c.(568-570)GCA>ACA p.A190T DZIP1L_uc003err.1_Missense_Mutation_p.A190T NM_173543 NP_775814 Q8IYY4 DZI1L_HUMAN DAZ interacting protein 1-like 190 intracellular zinc ion binding ovary(1)|pancreas(1) 2 gccacgcctgcatgcctgcgc 0.403 NA OREG0015831 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 16 0 0 0.001168 0 0 PRR23A 729627 broad.mit.edu 37 3 138724401 138724401 + Missense_Mutation SNP G G T TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr3:138724401G>T uc011bms.1 - 1 710 c.710C>A c.(709-711)TCT>TAT p.S237Y NM_001134659 NP_001128131 A6NEV1 PR23A_HUMAN proline rich 23A 237 Pro-rich. 0 CACGCGCGGAGAGGGAGGTAG 0.652 NA 5 16 0.000602214 0.000643462 0.000602 1 0 ZIC1 7545 broad.mit.edu 37 3 147128282 147128282 + Missense_Mutation SNP T T A TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr3:147128282T>A uc003ewe.2 + 1 1102 c.383T>A c.(382-384)TTC>TAC p.F128Y NM_003412 NP_003403 Q15915 ZIC1_HUMAN zinc finger protein of the cerebellum 1 128 behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|central_nervous_system(1) 2 GCCGGGGGCTTCGGGGGCCCA 0.711 NA 6 25 0 0 0.00308 0 0 ZIC1 7545 broad.mit.edu 37 3 147128284 147128284 + Missense_Mutation SNP G G T TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr3:147128284G>T uc003ewe.2 + 1 1104 c.385G>T c.(385-387)GGG>TGG p.G129W NM_003412 NP_003403 Q15915 ZIC1_HUMAN zinc finger protein of the cerebellum 1 129 behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|central_nervous_system(1) 2 CGGGGGCTTCGGGGGCCCACA 0.716 NA 7 26 0.00621372 0.00654959 0.006214 1 0 NMD3 51068 broad.mit.edu 37 3 160945076 160945076 + Missense_Mutation SNP A A T TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr3:160945076A>T uc003feb.1 + 4 340 c.221A>T c.(220-222)GAA>GTA p.E74V NMD3_uc003fec.2_Missense_Mutation_p.E74V|NMD3_uc003fed.1_Missense_Mutation_p.E74V NM_015938 NP_057022 Q96D46 NMD3_HUMAN NMD3 homolog 74 protein transport cytoplasm|nucleolus|nucleoplasm ovary(1) 1 Lung(72;0.00111)|LUSC - Lung squamous cell carcinoma(72;0.00156) TGTGCTTTAGAATCCAGGGAA 0.358 NA 10 80 0 0 0.001368 0 0 BCHE 590 broad.mit.edu 37 3 165548021 165548021 + Silent SNP A A T TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr3:165548021A>T uc003fem.3 - 2 961 c.801T>A c.(799-801)GCT>GCA p.A267A BCHE_uc003fen.3_Intron NM_000055 NP_000046 P06276 CHLE_HUMAN butyrylcholinesterase precursor 267 choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic endoplasmic reticulum lumen|extracellular space|membrane acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding ovary(3)|pancreas(1) 4 Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116) TTCTGTTCCTAGCTTCATAAA 0.403 NA 33 101 0 0 0.012213 0 0 TTC14 151613 broad.mit.edu 37 3 180327803 180327803 + Missense_Mutation SNP G G T TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr3:180327803G>T uc003fkk.2 + 12 1918 c.1786G>T c.(1786-1788)GAT>TAT p.D596Y TTC14_uc003fkl.2_3'UTR|TTC14_uc003fkm.2_Intron NM_133462 NP_597719 Q96N46 TTC14_HUMAN tetratricopeptide repeat domain 14 isoform a 596 RNA binding ovary(1) 1 all_cancers(143;9.31e-15)|Ovarian(172;0.0212) OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558) TAGGTCTGAAGATCCAAGAGA 0.353 NA 62 363 2.81305e-35 5.27809e-35 0.00361 1 0 AHSG 197 broad.mit.edu 37 3 186335082 186335082 + Missense_Mutation SNP C C A TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr3:186335082C>A uc003fqk.3 + 4 597 c.516C>A c.(514-516)AAC>AAA p.N172K AHSG_uc003fqj.2_Missense_Mutation_p.N172K|AHSG_uc003fql.3_Missense_Mutation_p.N173K|AHSG_uc003fqm.3_Missense_Mutation_p.N171K|AHSG_uc010hyp.2_Missense_Mutation_p.N135K NM_001622 NP_001613 P02765 FETUA_HUMAN alpha-2-HS-glycoprotein 172 Cystatin fetuin-A-type 2. PLLAPLNDTRVVHAAKAALAAFNAQNNGSNFQL -> MVGW QEGANHKNGAGRSQKQEMAEKMVPEVASG (in Ref. 12; AAF69649). acute-phase response|negative regulation of bone mineralization|negative regulation of insulin receptor signaling pathway|pinocytosis|positive regulation of phagocytosis|regulation of inflammatory response|skeletal system development extracellular space cysteine-type endopeptidase inhibitor activity|protein binding 0 all_cancers(143;3.64e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;3.27e-20) GBM - Glioblastoma multiforme(93;0.0463) CCGCCTTCAACGCTCAGAACA 0.602 NA OREG0015968 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 19 133 7.41877e-09 9.24806e-09 0.001882 1 0 SDHAP2 727956 broad.mit.edu 37 3 195400728 195400728 + Silent SNP A A G rs12107841 by1000genomes TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr3:195400728A>G uc003fuw.2 + 9 1218 c.24A>G c.(22-24)CCA>CCG p.P8P SDHAP2_uc011btb.1_Missense_Mutation_p.S156G|SDHAP2_uc011btc.1_RNA|SDHAP2_uc003fuv.2_RNA SubName: Full=cDNA FLJ16373 fis, clone THYMU3000269, highly similar to Succinate dehydrogenase (ubiquinone) flavoprotein subunit, mitochondrial (EC 1.3.5.1); 0 GATTGTGCCCAGCCTGTACGC 0.587 NA 3 20 0 0 0.001168 0 0 LRRC66 339977 broad.mit.edu 37 4 52861722 52861722 + Missense_Mutation SNP C C T TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr4:52861722C>T uc003gzi.2 - 4 1479 c.1466G>A c.(1465-1467)GGA>GAA p.G489E NM_001024611 NP_001019782 Q68CR7 LRC66_HUMAN leucine rich repeat containing 66 489 integral to membrane ovary(1)|central_nervous_system(1)|skin(1) 3 CCCGCACTGTCCTGGGCTCTG 0.547 NA 52 116 0 0 0.00361 0 0 SPATA18 132671 broad.mit.edu 37 4 52944926 52944926 + Missense_Mutation SNP C C A TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr4:52944926C>A uc003gzl.2 + 8 1324 c.1046C>A c.(1045-1047)GCA>GAA p.A349E SPATA18_uc010igl.1_RNA|SPATA18_uc011bzq.1_Missense_Mutation_p.A317E|SPATA18_uc003gzk.1_Missense_Mutation_p.A349E NM_145263 NP_660306 Q8TC71 MIEAP_HUMAN spermatogenesis associated 18 homolog 349 mitochondrial protein catabolic process|mitochondrion degradation by induced vacuole formation|response to DNA damage stimulus mitochondrial outer membrane protein binding ovary(2)|skin(2) 4 GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204) GCAAAAATGGCATTCAGACAC 0.383 NA 21 105 1.2644e-06 1.48466e-06 0.010504 1 0 KIT 3815 broad.mit.edu 37 4 55593452 55593452 + Missense_Mutation SNP T T A TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr4:55593452T>A uc010igr.2 + 10 1696 c.1609T>A c.(1609-1611)TGC>AGC p.C537S KIT_uc010igs.2_Missense_Mutation_p.C533S|KIT_uc011bzw.1_RNA|KIT_uc010igt.1_5'Flank NM_000222 NP_000213 P10721 KIT_HUMAN v-kit Hardy-Zuckerman 4 feline sarcoma viral 537 Helical; (Potential). male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway extracellular space|integral to membrane ATP binding|protein binding|receptor signaling protein tyrosine kinase activity soft_tissue(3273)|haematopoietic_and_lymphoid_tissue(1572)|skin(99)|testis(49)|bone(21)|genital_tract(18)|kidney(17)|ovary(16)|salivary_gland(15)|large_intestine(11)|thymus(6)|lung(6)|central_nervous_system(4)|NS(3)|eye(2)|endometrium(2)|breast(1)|stomach(1)|autonomic_ganglia(1)|pancreas(1) 5118 all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101) LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209) Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171) Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268) TGGCATGATGTGCATTATTGT 0.383 1 Mis|O GIST|AML|TGCT|mastocytosis|mucosal melanoma GIST|epithelioma Piebald trait Mast_Cell_disease_Familial_Clustering_of|Piebaldism|Gastrointestinal_Stromal_Tumors_Sporadic_Multiple_Primary|Familial_Gastrointestinal_Stromal_Tumors 44 182 0 0 0.003214 0 0 KDR 3791 broad.mit.edu 37 4 55979649 55979649 + Splice_Site SNP C C A TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr4:55979649C>A uc003has.2 - 7 1101 c.799_splice c.e7-1 p.H267_splice KDR_uc003hat.1_Splice_Site_p.H267_splice|KDR_uc011bzx.1_Splice_Site_p.H267_splice NM_002253 NP_002244 P35968 VGFR2_HUMAN kinase insert domain receptor precursor angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape integral to plasma membrane ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity lung(16)|soft_tissue(4)|central_nervous_system(4)|large_intestine(2)|stomach(2)|skin(2)|ovary(2)|kidney(1) 33 all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101) Epithelial(7;0.189) Sorafenib(DB00398)|Sunitinib(DB01268) TATGCTGATGCTGAAAAAAAG 0.373 NA Mis NSCLC|angiosarcoma Familial_Infantile_Hemangioma TSP Lung(20;0.16) 22 63 1.87028e-06 2.17271e-06 0.001882 1 0 LPHN3 23284 broad.mit.edu 37 4 62845321 62845321 + Missense_Mutation SNP C C T TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr4:62845321C>T uc010ihh.2 + 15 2815 c.2642C>T c.(2641-2643)ACG>ATG p.T881M LPHN3_uc003hcq.3_Missense_Mutation_p.T881M|LPHN3_uc003hct.2_Missense_Mutation_p.T274M NM_015236 NP_056051 Q9HAR2 LPHN3_HUMAN latrophilin 3 precursor 868 Helical; Name=1; (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|sugar binding lung(15)|ovary(1)|central_nervous_system(1)|pancreas(1) 18 GATGTGATCACGTGGGTTGGA 0.448 NA 108 319 0 0 0.00361 0 0 GNRHR 2798 broad.mit.edu 37 4 68619638 68619638 + Missense_Mutation SNP C C T rs104893842 TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr4:68619638C>T uc003hdn.2 - 1 2167 c.416G>A c.(415-417)CGC>CAC p.R139H LOC550112_uc003hdl.3_Intron|GNRHR_uc003hdm.2_Missense_Mutation_p.R139H NM_000406 NP_000397 P30968 GNRHR_HUMAN gonadotropin-releasing hormone receptor isoform 139 Cytoplasmic (Potential). R -> H (in IHH; completely eliminates detectable GnRH-binding activity and prevents GnRH-induced stimulation of inositol phosphate accumulation in vitro). multicellular organismal development integral to plasma membrane gonadotropin-releasing hormone receptor activity ovary(1) 1 Abarelix(DB00106)|Cetrorelix(DB00050)|Danazol(DB01406)|Gonadorelin(DB00644)|Leuprolide(DB00007)|Nafarelin(DB00666) AGCCAGGGAGCGGTCCAGGCT 0.512 NA 14 79 0 0 0.003163 0 0 FRAS1 80144 broad.mit.edu 37 4 79296926 79296927 + Missense_Mutation DNP GG GG TT TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 GG GG - - GG GG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr4:79296926_79296927GG>TT uc003hlb.2 + 26 3625_3626 c.3185_3186GG>TT c.(3184-3186)AGG>ATT p.R1062I FRAS1_uc003hkw.2_Missense_Mutation_p.R1062I NM_025074 NP_079350 Q86XX4 FRAS1_HUMAN Fraser syndrome 1 1061 FU 14.|Extracellular (Potential). cell communication integral to membrane|plasma membrane metal ion binding large_intestine(5) 5 TGCAGCCACAGGGACCGTTGTC 0.48 NA 3 29 0 0 0.004672 0 0 DMP1 1758 broad.mit.edu 37 4 88584230 88584230 + Missense_Mutation SNP C C A TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr4:88584230C>A uc003hqv.2 + 6 1404 c.1300C>A c.(1300-1302)CAG>AAG p.Q434K DMP1_uc003hqw.2_Missense_Mutation_p.Q418K NM_004407 NP_004398 Q13316 DMP1_HUMAN dentin matrix acidic phosphoprotein 1 isoform 1 434 biomineral tissue development|ossification cytoplasm|nucleus|proteinaceous extracellular matrix calcium ion binding|integrin binding pancreas(1)|skin(1) 2 Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.227) OV - Ovarian serous cystadenocarcinoma(123;0.000516) GGAGGGCCTCCAGTCTCACAG 0.547 NA 43 78 6.1244e-12 8.55223e-12 0.007835 1 0 GRID2 2895 broad.mit.edu 37 4 94693324 94693324 + Missense_Mutation SNP T T C TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr4:94693324T>C uc011cdt.1 + 16 2957 c.2699T>C c.(2698-2700)ATT>ACT p.I900T GRID2_uc011cdu.1_Missense_Mutation_p.I805T NM_001510 NP_001501 O43424 GRID2_HUMAN glutamate receptor, ionotropic, delta 2 900 Cytoplasmic (Potential). glutamate signaling pathway cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity ovary(3)|skin(2)|large_intestine(1) 6 Hepatocellular(203;0.114)|all_hematologic(202;0.177) OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191) L-Glutamic Acid(DB00142) ACCTCGTCAATTGATTTGACC 0.453 NA 59 108 0 0 0.00361 0 0 ADH7 131 broad.mit.edu 37 4 100340162 100340162 + Missense_Mutation SNP C C A TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr4:100340162C>A uc003huv.1 - 7 1077 c.978G>T c.(976-978)TGG>TGT p.W326C NM_000673 NP_000664 P40394 ADH7_HUMAN class IV alcohol dehydrogenase, mu or sigma 326 ethanol oxidation|fatty acid omega-oxidation|response to bacterium|response to ethanol|xenobiotic metabolic process cytosol|soluble fraction alcohol dehydrogenase activity, zinc-dependent|aldehyde oxidase activity|ethanol binding|receptor antagonist activity|retinol binding|retinol dehydrogenase activity lung(2)|skin(1) 3 OV - Ovarian serous cystadenocarcinoma(123;1.75e-08) NADH(DB00157) CACATCCCTTCCATGTGCGTC 0.537 NA 38 122 1.03484e-13 1.50271e-13 0.005524 1 0 SPATA5 166378 broad.mit.edu 37 4 123868550 123868550 + Missense_Mutation SNP C C T TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr4:123868550C>T uc003iez.3 + 9 1694 c.1621C>T c.(1621-1623)CCC>TCC p.P541S SPATA5_uc003iey.2_Missense_Mutation_p.P540S NM_145207 NP_660208 Q8NB90 SPAT5_HUMAN spermatogenesis associated 5 541 cell differentiation|multicellular organismal development|spermatogenesis mitochondrion ATP binding|nucleoside-triphosphatase activity 0 TCGAAGGGTACCCCATTTGCT 0.493 NA 33 122 0 0 0.010818 0 0 FAT4 79633 broad.mit.edu 37 4 126242381 126242381 + Missense_Mutation SNP C C A TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr4:126242381C>A uc003ifj.3 + 1 4815 c.4815C>A c.(4813-4815)GAC>GAA p.D1605E NM_024582 NP_078858 Q6V0I7 FAT4_HUMAN FAT tumor suppressor homolog 4 precursor 1605 Cadherin 15.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2) 18 CAGCAACAGACCTTGGGCCTG 0.433 NA 60 170 3.21867e-24 5.35791e-24 0.00361 1 0 ZNF827 152485 broad.mit.edu 37 4 146823920 146823920 + Missense_Mutation SNP T T A TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr4:146823920T>A uc003ikn.2 - 2 539 c.491A>T c.(490-492)CAG>CTG p.Q164L ZNF827_uc003ikm.2_Missense_Mutation_p.Q164L|ZNF827_uc010iox.2_Intron NM_178835 NP_849157 Q17R98 ZN827_HUMAN zinc finger protein 827 164 Q -> R (in Ref. 2; BAC03591). regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_hematologic(180;0.151) ACTGAGCTGCTGGGCGTGGTG 0.537 NA 39 109 0 0 0.011902 0 0 RNF175 285533 broad.mit.edu 37 4 154631639 154631639 + Missense_Mutation SNP C C G TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr4:154631639C>G uc003int.2 - 9 1242 c.869G>C c.(868-870)TGG>TCG p.W290S NM_173662 NP_775933 Q8N4F7 RN175_HUMAN ring finger protein 175 290 integral to membrane zinc ion binding ovary(1)|pancreas(1) 2 all_hematologic(180;0.093) Renal(120;0.118) TGTGCGCTCCCAGCTAAATCT 0.378 NA 3 16 0 0 0.004672 0 0 TKTL2 84076 broad.mit.edu 37 4 164394546 164394546 + Missense_Mutation SNP G G T TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr4:164394546G>T uc003iqp.3 - 1 502 c.341C>A c.(340-342)CCC>CAC p.P114H NM_032136 NP_115512 Q9H0I9 TKTL2_HUMAN transketolase-like 2 114 cytoplasm metal ion binding|transketolase activity ovary(2)|skin(2)|pancreas(1) 5 all_hematologic(180;0.166) Prostate(90;0.0959)|all_neural(102;0.223) CGGCAATCGGGGGGTAGGGTG 0.532 NA 32 81 4.40665e-25 7.42601e-25 0.009535 1 0 TRIML1 339976 broad.mit.edu 37 4 189068316 189068316 + Missense_Mutation SNP C C A TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr4:189068316C>A uc003izm.1 + 6 1312 c.1197C>A c.(1195-1197)CAC>CAA p.H399Q TRIML1_uc003izn.1_Missense_Mutation_p.H123Q NM_178556 NP_848651 Q8N9V2 TRIML_HUMAN tripartite motif family-like 1 399 B30.2/SPRY. multicellular organismal development ligase activity|zinc ion binding ovary(1)|pancreas(1)|breast(1)|skin(1) 4 all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062) OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156) AAGGTCAGCACGTCAGAGAGC 0.488 Melanoma(31;213 1036 16579 23968 32372) NA 74 161 2.10938e-32 3.89095e-32 0.00361 1 0 FRG1 2483 broad.mit.edu 37 4 190876250 190876250 + Missense_Mutation SNP G G T rs146824996 by1000genomes TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr4:190876250G>T uc003izs.2 + 5 567 c.376G>T c.(376-378)GTT>TTT p.V126F NM_004477 NP_004468 Q14331 FRG1_HUMAN FSHD region gene 1 126 rRNA processing Cajal body|catalytic step 2 spliceosome|nuclear speck|nucleolus 0 all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147) all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161) TGGACTTGTTGTTGGGCGTTC 0.353 NA 11 158 0.00010058 0.000110274 0.001368 1 0 SLC6A18 348932 broad.mit.edu 37 5 1244882 1244882 + Silent SNP C C T TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr5:1244882C>T uc003jby.1 + 11 1779 c.1656C>T c.(1654-1656)TAC>TAT p.Y552Y NM_182632 NP_872438 Q96N87 S6A18_HUMAN solute carrier family 6, member 18 552 Extracellular (Potential). cellular nitrogen compound metabolic process integral to plasma membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity ovary(1) 1 all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10) Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185) ACCCCAAATACGTAGGTCCTT 0.612 NA 7 127 0 0 0.004482 0 0 IRX4 50805 broad.mit.edu 37 5 1878835 1878835 + Missense_Mutation SNP G G T TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr5:1878835G>T uc003jcz.2 - 5 927 c.808C>A c.(808-810)CCG>ACG p.P270T IRX4_uc011cmf.1_Missense_Mutation_p.P131T NM_016358 NP_057442 P78413 IRX4_HUMAN iroquois homeobox 4 270 heart development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 GBM - Glioblastoma multiforme(108;0.242) CACGCCGGCGGCTCTGCTTCC 0.697 NA 17 36 3.41278e-10 4.47928e-10 0.00499 1 0 ADAMTS16 170690 broad.mit.edu 37 5 5239326 5239326 + Silent SNP C C T TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr5:5239326C>T uc003jdl.2 + 15 2355 c.2217C>T c.(2215-2217)AAC>AAT p.N739N ADAMTS16_uc003jdk.1_Silent_p.N739N|ADAMTS16_uc010itk.1_RNA NM_139056 NP_620687 Q8TE57 ATS16_HUMAN ADAM metallopeptidase with thrombospondin type 1 739 Cys-rich. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(3)|lung(2)|large_intestine(1)|breast(1)|pancreas(1) 8 GGGTGTGTAACGGGAATAACT 0.512 NA 64 418 0 0 0.00361 0 0 PRDM9 56979 broad.mit.edu 37 5 23517995 23517995 + Missense_Mutation SNP C C A TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr5:23517995C>A uc003jgo.2 + 5 489 c.307C>A c.(307-309)CCT>ACT p.P103T NM_020227 NP_064612 Q9NQV7 PRDM9_HUMAN PR domain containing 9 103 meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleoplasm histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding ovary(3)|large_intestine(2)|pancreas(1) 6 TTTAGTCAAACCTCCTTGGAT 0.353 NA HNSCC(3;0.000094) 54 214 6.3091e-27 1.08668e-26 0.00361 1 0 PRDM9 56979 broad.mit.edu 37 5 23527675 23527675 + Missense_Mutation SNP C C A TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr5:23527675C>A uc003jgo.2 + 11 2660 c.2478C>A c.(2476-2478)CAC>CAA p.H826Q NM_020227 NP_064612 Q9NQV7 PRDM9_HUMAN PR domain containing 9 826 C2H2-type 12. meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleoplasm histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding ovary(3)|large_intestine(2)|pancreas(1) 6 AGAGGACACACACAGGGGAGA 0.582 NA HNSCC(3;0.000094) 71 285 5.88917e-42 1.1443e-41 0.00361 1 0 SLC45A2 51151 broad.mit.edu 37 5 33954552 33954552 + Missense_Mutation SNP G G A TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr5:33954552G>A uc003jid.2 - 4 1038 c.946C>T c.(946-948)CAC>TAC p.H316Y SLC45A2_uc003jie.2_Missense_Mutation_p.H316Y|SLC45A2_uc003jif.3_Missense_Mutation_p.S207L|SLC45A2_uc011coe.1_Missense_Mutation_p.S207L NM_016180 NP_057264 Q9UMX9 S45A2_HUMAN membrane-associated transporter protein isoform 316 Cytoplasmic (Potential). melanin biosynthetic process|response to stimulus|transmembrane transport|visual perception integral to membrane|melanosome membrane ovary(2)|haematopoietic_and_lymphoid_tissue(1) 3 TAGCGGTAGTGAGGAGGCATG 0.478 Ovarian(31;380 859 8490 22203 49048) NA 33 61 0 0 0.002836 0 0 SKP2 6502 broad.mit.edu 37 5 36152975 36152975 + Silent SNP G G T TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr5:36152975G>T uc003jkc.1 + 2 293 c.111G>T c.(109-111)GGG>GGT p.G37G SKP2_uc011cou.1_5'UTR|SKP2_uc003jkd.2_Silent_p.G37G|LMBRD2_uc003jkb.1_5'Flank NM_005983 NP_005974 Q13309 SKP2_HUMAN S-phase kinase-associated protein 2 isoform 1 37 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|G1/S transition of mitotic cell cycle|S phase of mitotic cell cycle nucleoplasm|SCF ubiquitin ligase complex protein binding central_nervous_system(2)|ovary(1)|breast(1) 4 all_lung(31;5.63e-05) Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) CAGGCATGGGGGTCTCCGCCC 0.602 NA 58 103 1.46156e-29 2.60788e-29 0.00361 1 0 EGFLAM 133584 broad.mit.edu 37 5 38418193 38418194 + Missense_Mutation DNP GG GG TC TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 GG GG - - GG GG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr5:38418193_38418194GG>TC uc003jlc.1 + 12 1844_1845 c.1520_1521GG>TC c.(1519-1521)CGG>CTC p.R507L EGFLAM_uc003jlb.1_Missense_Mutation_p.R507L|EGFLAM_uc003jle.1_Missense_Mutation_p.R273L|EGFLAM_uc003jlf.1_Intron NM_152403 NP_689616 Q63HQ2 EGFLA_HUMAN EGF-like, fibronectin type III and laminin G 507 Laminin G-like 1. cell junction|proteinaceous extracellular matrix|synapse pancreas(3)|skin(3)|ovary(1) 7 all_lung(31;0.000385) ATTACTTTCCGGACACCTCTCT 0.45 Colon(62;485 1295 3347 17454) NA 38 151 0 0 0.004672 0 0 FGF10 2255 broad.mit.edu 37 5 44305247 44305247 + Missense_Mutation SNP A A T TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr5:44305247A>T uc003jog.1 - 3 477 c.477T>A c.(475-477)AAT>AAA p.N159K NM_004465 NP_004456 O15520 FGF10_HUMAN fibroblast growth factor 10 precursor 159 actin cytoskeleton reorganization|activation of MAPK activity|bud outgrowth involved in lung branching|ERK1 and ERK2 cascade|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|insulin receptor signaling pathway|lacrimal gland development|lung saccule development|mesonephros development|negative regulation of cell cycle arrest|positive regulation of ATPase activity|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of DNA repair|positive regulation of DNA replication|positive regulation of epithelial cell migration|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of ERK1 and ERK2 cascade|positive regulation of hair follicle cell proliferation|positive regulation of keratinocyte migration|positive regulation of keratinocyte proliferation|positive regulation of lymphocyte proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of Ras protein signal transduction|positive regulation of transcription, DNA-dependent|positive regulation of urothelial cell proliferation|protein localization at cell surface|radial glial cell differentiation|regulation of saliva secretion|response to protein stimulus|secretion by lung epithelial cell involved in lung growth|tear secretion|thymus development|urothelial cell proliferation cell surface|extracellular space|nucleus|plasma membrane chemoattractant activity|growth factor activity|heparin binding|type 2 fibroblast growth factor receptor binding lung(3) 3 Lung NSC(6;1.12e-06) TATTGTATCCATTTTCCTCTA 0.378 NA 55 146 0 0 0.00361 0 0 DHX29 54505 broad.mit.edu 37 5 54572988 54572988 + Silent SNP T T C TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr5:54572988T>C uc003jpx.2 - 13 2352 c.2232A>G c.(2230-2232)ACA>ACG p.T744T DHX29_uc010ivw.2_RNA NM_019030 NP_061903 Q7Z478 DHX29_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 29 744 Helicase ATP-binding. ATP binding|ATP-dependent helicase activity|translation initiation factor activity ovary(2)|central_nervous_system(1)|skin(1) 4 Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183) GTGTGAAATATGTAGAAAATT 0.363 NA 35 107 0 0 0.005524 0 0 HTR1A 3350 broad.mit.edu 37 5 63257347 63257347 + Missense_Mutation SNP A A T TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr5:63257347A>T uc011cqt.1 - 1 200 c.200T>A c.(199-201)CTG>CAG p.L67Q NM_000524 NP_000515 P08908 5HT1A_HUMAN 5-hydroxytryptamine (serotonin) receptor 1A 67 Cytoplasmic (By similarity). behavior|positive regulation of cell proliferation integral to plasma membrane serotonin receptor activity ovary(2)|pancreas(2) 4 Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234) Lung(70;0.105) Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246) CACGTTCTGCAGGGAGCGCTC 0.602 NA 20 31 0 0 0.010504 0 0 MCTP1 79772 broad.mit.edu 37 5 94224666 94224666 + Missense_Mutation SNP C C A TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr5:94224666C>A uc003kkx.2 - 12 1851 c.1851G>T c.(1849-1851)AGG>AGT p.R617S MCTP1_uc003kkv.2_Missense_Mutation_p.R396S|MCTP1_uc003kkw.2_Missense_Mutation_p.R350S|MCTP1_uc003kkz.2_Missense_Mutation_p.R278S|MCTP1_uc003kku.2_Missense_Mutation_p.R133S NM_024717 NP_078993 Q6DN14 MCTP1_HUMAN multiple C2 domains, transmembrane 1 isoform L 617 C2 3. calcium-mediated signaling integral to membrane|membrane fraction calcium ion binding ovary(2) 2 all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207) all cancers(79;9.1e-17) TGTGAAATATCCTCAATGGGC 0.423 NA 39 53 5.04308e-16 7.52328e-16 0.00623 1 0 TSLP 85480 broad.mit.edu 37 5 110407688 110407688 + Missense_Mutation SNP T T A TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr5:110407688T>A uc003kpb.2 + 1 299 c.100T>A c.(100-102)TGT>AGT p.C34S TSLP_uc003kpa.2_RNA|TSLP_uc010jbt.1_5'Flank NM_033035 NP_149024 Q969D9 TSLP_HUMAN thymic stromal lymphopoietin isoform 1 34 extracellular space cytokine activity 0 all_cancers(142;2.72e-05)|all_epithelial(76;4.39e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0417)|Ovarian(225;0.0443)|Colorectal(57;0.0464)|all_lung(232;0.0507)|Breast(839;0.244) OV - Ovarian serous cystadenocarcinoma(64;1.24e-08)|Epithelial(69;1.54e-07)|all cancers(49;1.73e-05)|COAD - Colon adenocarcinoma(37;0.109) CTTCACTAACTGTGACTTTGA 0.348 NA 49 66 0 0 0.00361 0 0 FAM170A 340069 broad.mit.edu 37 5 118968566 118968566 + Missense_Mutation SNP G G T TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr5:118968566G>T uc003ksm.2 + 2 404 c.194G>T c.(193-195)CGC>CTC p.R65L FAM170A_uc003ksl.2_Missense_Mutation_p.R65L|FAM170A_uc003ksn.2_Missense_Mutation_p.R65L|FAM170A_uc003kso.2_Intron NM_182761 NP_877438 A1A519 F170A_HUMAN family with sequence similarity 170, member A 65 intracellular zinc ion binding skin(1) 1 TCTTCTTCACGCAAGCTCATC 0.557 NA 47 90 1.51926e-22 2.48357e-22 0.00361 1 0 FBN2 2201 broad.mit.edu 37 5 127686687 127686687 + Missense_Mutation SNP C C A TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr5:127686687C>A uc003kuu.2 - 21 3124 c.2685G>T c.(2683-2685)AAG>AAT p.K895N FBN2_uc003kuv.2_Missense_Mutation_p.K862N NM_001999 NP_001990 P35556 FBN2_HUMAN fibrillin 2 precursor 895 bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation microfibril calcium ion binding|extracellular matrix structural constituent ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1) 15 all_cancers(142;0.0216)|Prostate(80;0.0551) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146) AACAGGTCCCCTTCAGGCTGT 0.493 NA 50 62 8.00217e-19 1.25192e-18 0.00361 1 0 ACSL6 23305 broad.mit.edu 37 5 131323838 131323839 + Missense_Mutation DNP CC CC AA TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 CC CC - - CC CC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr5:131323838_131323839CC>AA uc010jdo.1 - 7 741_742 c.658_659GG>TT c.(658-660)GGC>TTC p.G220F ACSL6_uc003kvv.1_RNA|ACSL6_uc003kvx.1_Missense_Mutation_p.G245F|ACSL6_uc003kvy.1_Missense_Mutation_p.G245F|ACSL6_uc003kwb.2_Missense_Mutation_p.G210F|ACSL6_uc003kvz.1_Missense_Mutation_p.G185F|ACSL6_uc003kwa.1_Missense_Mutation_p.G231F|ACSL6_uc010jdn.1_Missense_Mutation_p.G235F|ACSL6_uc010jdp.1_5'Flank NM_015256 NP_056071 Q9UKU0 ACSL6_HUMAN acyl-CoA synthetase long-chain family member 6 220 Cytoplasmic (Potential). fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane|plasma membrane ATP binding|long-chain fatty acid-CoA ligase activity upper_aerodigestive_tract(1)|ovary(1)|skin(1) 3 all_cancers(142;0.107)|Breast(839;0.198)|Lung NSC(810;0.216)|all_lung(232;0.248) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) CAGCTTGAGGCCTGGAGTCTCC 0.564 NA 153 240 0 0 0.004672 0 0 PCDHGA5 56110 broad.mit.edu 37 5 140744233 140744233 + Missense_Mutation SNP C C G TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr5:140744233C>G uc003lju.1 + 1 336 c.336C>G c.(334-336)AAC>AAG p.N112K PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc011das.1_Missense_Mutation_p.N112K NM_018918 NP_061741 Q9Y5G8 PCDG5_HUMAN protocadherin gamma subfamily A, 5 isoform 1 112 Cadherin 1.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(4) 4 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGGTTGAGAACAAAATGAAAA 0.443 NA 26 38 0 0 0.00333 0 0 PCDHGB6 56100 broad.mit.edu 37 5 140789266 140789266 + Silent SNP G G T TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr5:140789266G>T uc003lkj.1 + 1 1497 c.1497G>T c.(1495-1497)CTG>CTT p.L499L PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lki.1_Silent_p.L499L NM_018926 NP_061749 Q9Y5F9 PCDGI_HUMAN protocadherin gamma subfamily B, 6 isoform 1 499 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) TAGAGCCCCTGGCGGTGTCGT 0.642 NA 14 32 4.3838e-07 5.23754e-07 0.001855 1 0 GPR151 134391 broad.mit.edu 37 5 145895383 145895383 + Silent SNP C C T TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr5:145895383C>T uc003lod.1 - 1 294 c.294G>A c.(292-294)GCG>GCA p.A98A NM_194251 NP_919227 Q8TDV0 GP151_HUMAN G protein-coupled receptor 151 98 Extracellular (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity ovary(1)|pancreas(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) TTTTGGAGTACGCCGTAGCTC 0.512 Pancreas(78;420 1386 18535 37114 49710) NA 18 100 0 0 0.008871 0 0 FAT2 2196 broad.mit.edu 37 5 150923125 150923125 + Silent SNP G G A TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr5:150923125G>A uc003lue.3 - 9 7576 c.7563C>T c.(7561-7563)ATC>ATT p.I2521I GM2A_uc011dcs.1_Intron NM_001447 NP_001438 Q9NYQ8 FAT2_HUMAN FAT tumor suppressor 2 precursor 2521 Extracellular (Potential).|Cadherin 22. epithelial cell migration|homophilic cell adhesion cell-cell adherens junction|integral to membrane|nucleus calcium ion binding ovary(4)|upper_aerodigestive_tract(1)|skin(1) 6 Medulloblastoma(196;0.0912)|all_hematologic(541;0.104) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) CTAGTTTATTGATGATAGTAT 0.413 NA 48 172 0 0 0.00361 0 0 FAT2 2196 broad.mit.edu 37 5 150948412 150948412 + Silent SNP G G T TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr5:150948412G>T uc003lue.3 - 1 94 c.81C>A c.(79-81)TCC>TCA p.S27S GM2A_uc011dcs.1_Intron|FAT2_uc010jhx.1_Silent_p.S27S NM_001447 NP_001438 Q9NYQ8 FAT2_HUMAN FAT tumor suppressor 2 precursor 27 Extracellular (Potential). epithelial cell migration|homophilic cell adhesion cell-cell adherens junction|integral to membrane|nucleus calcium ion binding ovary(4)|upper_aerodigestive_tract(1)|skin(1) 6 Medulloblastoma(196;0.0912)|all_hematologic(541;0.104) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) AAGCAGAGGAGGAGAGAATCC 0.483 NA 55 91 9.57592e-29 1.69755e-28 0.00361 1 0 HAND1 9421 broad.mit.edu 37 5 153857373 153857373 + Missense_Mutation SNP C C A TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr5:153857373C>A uc003lvn.2 - 1 452 c.196G>T c.(196-198)GCT>TCT p.A66S NM_004821 NP_004812 O96004 HAND1_HUMAN basic helix-loop-helix transcription factor 66 Poly-Ala. angiogenesis|cardiac left ventricle formation|cardiac right ventricle formation|cardiac septum morphogenesis|heart looping|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|trophectodermal cell differentiation|ventricular cardiac muscle tissue morphogenesis cytoplasm|nucleolus|nucleoplasm bHLH transcription factor binding|DNA binding|protein homodimerization activity|transcription coactivator activity 0 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.147) Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577) GCGGCTGCAgcggccgcgggc 0.617 NA 14 5 1.33834e-09 1.72342e-09 0.007413 1 0 TIMD4 91937 broad.mit.edu 37 5 156376676 156376676 + Missense_Mutation SNP A A C TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr5:156376676A>C uc003lwh.2 - 4 803 c.746T>G c.(745-747)CTG>CGG p.L249R TIMD4_uc010jii.2_Missense_Mutation_p.L249R NM_138379 NP_612388 Q96H15 TIMD4_HUMAN T-cell immunoglobulin and mucin domain 249 Ser-rich.|Extracellular (Potential). integral to membrane ovary(2) 2 Renal(175;0.00488) Medulloblastoma(196;0.0523)|all_neural(177;0.21) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) GGATGTCAGCAGGACAGTGTC 0.458 NA 12 78 0 0 0.001855 0 0 HAVCR2 84868 broad.mit.edu 37 5 156533775 156533775 + Missense_Mutation SNP C C A TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr5:156533775C>A uc003lwk.1 - 2 401 c.257G>T c.(256-258)GGG>GTG p.G86V HAVCR2_uc003lwl.2_Missense_Mutation_p.G86V NM_032782 NP_116171 Q8TDQ0 HAVR2_HUMAN T cell immunoglobulin mucin 3 precursor 86 Ig-like V-type.|Extracellular (Potential). integral to membrane 0 Renal(175;0.00212) Medulloblastoma(196;0.0354)|all_neural(177;0.0999) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) GCGGAAATCCCCATTTAGCCA 0.488 NA 55 212 1.07234e-20 1.71199e-20 0.00361 1 0 CYFIP2 26999 broad.mit.edu 37 5 156731349 156731349 + Missense_Mutation SNP C C G TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr5:156731349C>G uc003lwq.2 + 10 908 c.770C>G c.(769-771)CCC>CGC p.P257R CYFIP2_uc011ddn.1_Missense_Mutation_p.P231R|CYFIP2_uc011ddo.1_Intron|CYFIP2_uc003lwr.2_Missense_Mutation_p.P257R|CYFIP2_uc003lws.2_Missense_Mutation_p.P257R|CYFIP2_uc003lwt.2_Missense_Mutation_p.P135R|CYFIP2_uc011ddp.1_Intron|CYFIP2_uc003lwp.2_Missense_Mutation_p.P135R NM_001037333 NP_001032410 Q96F07 CYFP2_HUMAN cytoplasmic FMR1 interacting protein 2 257 apoptosis|cell-cell adhesion cell junction|perinuclear region of cytoplasm|synapse|synaptosome protein binding 0 Renal(175;0.00212) Medulloblastoma(196;0.0306)|all_neural(177;0.0897) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) TACCTGACTCCCAGTGAGAAA 0.488 NA 16 153 0 0 0.00499 0 0 CCNJL 79616 broad.mit.edu 37 5 159680488 159680488 + Missense_Mutation SNP T T C TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr5:159680488T>C uc003lyb.1 - 7 1457 c.1205A>G c.(1204-1206)CAT>CGT p.H402R CCNJL_uc011dee.1_Missense_Mutation_p.H354R|CCNJL_uc003lyc.1_RNA NM_024565 NP_078841 Q8IV13 CCNJL_HUMAN cyclin J-like 402 nucleus 0 Renal(175;0.00196) Medulloblastoma(196;0.0354)|all_neural(177;0.116) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) AATGGCCATATGCATGCTAAG 0.607 NA 98 88 0 0 0.00361 0 0 GABRG2 2566 broad.mit.edu 37 5 161576140 161576140 + Missense_Mutation SNP A A G TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr5:161576140A>G uc003lyz.3 + 8 1307 c.949A>G c.(949-951)ACC>GCC p.T317A GABRG2_uc010jjc.2_Missense_Mutation_p.T357A|GABRG2_uc003lyy.3_Missense_Mutation_p.T317A|GABRG2_uc011dej.1_Missense_Mutation_p.T222A NM_000816 NP_000807 P18507 GBRG2_HUMAN gamma-aminobutyric acid A receptor, gamma 2 317 Helical; (Probable). gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding ovary(4)|skin(1) 5 Renal(175;0.000319) Medulloblastoma(196;0.0208)|all_neural(177;0.0672) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136) GACAATGACCACCCTCAGCAC 0.463 NA 14 210 0 0 0.00245 0 0 SLIT3 6586 broad.mit.edu 37 5 168201305 168201305 + Silent SNP C C A TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr5:168201305C>A uc003mab.2 - 13 1650 c.1230G>T c.(1228-1230)CTG>CTT p.L410L SLIT3_uc010jjg.2_Silent_p.L410L|SLIT3_uc010jji.2_Silent_p.L410L|SLIT3_uc003mac.1_Silent_p.L207L NM_003062 NP_003053 O75094 SLIT3_HUMAN slit homolog 3 precursor 410 LRR 11. apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway extracellular space|mitochondrion calcium ion binding|Roundabout binding ovary(3)|skin(1) 4 Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) TGTTGTCATACAGGGAGAGCA 0.567 Ovarian(29;311 847 10864 17279 24903) NA 243 355 1.6475e-97 3.43335e-97 0.00361 1 0 LCP2 3937 broad.mit.edu 37 5 169697832 169697832 + Silent SNP G G T TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr5:169697832G>T uc003man.1 - 7 621 c.414C>A c.(412-414)CCC>CCA p.P138P LCP2_uc011det.1_5'UTR|LCP2_uc010jjo.1_5'Flank NM_005565 NP_005556 Q13094 LCP2_HUMAN lymphocyte cytosolic protein 2 138 immune response|platelet activation|T cell receptor signaling pathway|transmembrane receptor protein tyrosine kinase signaling pathway cytosol protein binding ovary(1) 1 Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337) Medulloblastoma(196;0.0109)|all_neural(177;0.0146) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) OV - Ovarian serous cystadenocarcinoma(192;0.247) CATCTTCCACGGGTGCCTCTT 0.547 NA 26 107 8.58068e-18 1.32721e-17 0.007291 1 0 SLC34A1 6569 broad.mit.edu 37 5 176813237 176813237 + Missense_Mutation SNP C C A TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr5:176813237C>A uc003mgk.3 + 4 376 c.275C>A c.(274-276)CCC>CAC p.P92H NM_003052 NP_003043 Q06495 NPT2A_HUMAN solute carrier family 34 (sodium phosphate), 92 Cytoplasmic (Potential). phosphate ion homeostasis|response to cadmium ion|response to lead ion|response to mercury ion|sodium ion transport brush border membrane|integral to plasma membrane protein binding|sodium-dependent phosphate transmembrane transporter activity|symporter activity ovary(1) 1 all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) AGGCTGGTCCCCAAGCTGCGC 0.662 NA 64 103 3.13296e-38 6.02323e-38 0.00361 1 0 EXOC2 55770 broad.mit.edu 37 6 549257 549257 + Missense_Mutation SNP C C G TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr6:549257C>G uc003mtd.2 - 22 2290 c.2156G>C c.(2155-2157)TGC>TCC p.C719S EXOC2_uc003mte.2_Missense_Mutation_p.C719S|EXOC2_uc011dho.1_Missense_Mutation_p.C314S NM_018303 NP_060773 Q96KP1 EXOC2_HUMAN Sec5 protein 719 exocytosis|protein transport breast(4)|ovary(2)|pancreas(1) 7 Ovarian(93;0.0733) Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897) OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14) TTCTAGATAGCAGCAATTACT 0.373 NA 52 148 0 0 0.00361 0 0 HUS1B 135458 broad.mit.edu 37 6 656317 656317 + Missense_Mutation SNP G G A TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr6:656317G>A uc003mtg.2 - 1 648 c.628C>T c.(628-630)CCT>TCT p.P210S EXOC2_uc003mtd.2_Intron|EXOC2_uc003mte.2_Intron|EXOC2_uc011dho.1_Intron NM_148959 NP_683762 Q8NHY5 HUS1B_HUMAN HUS1 checkpoint protein B 210 0 Ovarian(93;0.0733) Breast(5;0.00139)|all_lung(73;0.0691)|all_hematologic(90;0.0895) OV - Ovarian serous cystadenocarcinoma(45;0.041)|BRCA - Breast invasive adenocarcinoma(62;0.0965) GACTGGGGAGGGTTTCCAAGA 0.517 NA 73 249 0 0 0.00361 0 0 TBC1D7 51256 broad.mit.edu 37 6 13321220 13321220 + Missense_Mutation SNP C C A TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr6:13321220C>A uc003naj.2 - 4 392 c.301G>T c.(301-303)GCC>TCC p.A101S TBC1D7_uc011dis.1_RNA|TBC1D7_uc003nan.2_Missense_Mutation_p.A101S|TBC1D7_uc003nal.2_Missense_Mutation_p.A101S|TBC1D7_uc003nam.2_Missense_Mutation_p.A101S|TBC1D7_uc003nao.2_Missense_Mutation_p.A74S|TBC1D7_uc010jpd.2_Missense_Mutation_p.A101S|TBC1D7_uc003nap.2_Missense_Mutation_p.A74S|TBC1D7_uc003naq.2_Missense_Mutation_p.A74S NM_016495 NP_057579 Q9P0N9 TBCD7_HUMAN TBC1 domain family, member 7 isoform a 101 Rab-GAP TBC. positive regulation of protein ubiquitination cytoplasmic membrane-bounded vesicle protein binding|Rab GTPase activator activity ovary(1) 1 Breast(50;0.0296)|Ovarian(93;0.0339) all_hematologic(90;0.135) Epithelial(50;0.0784)|BRCA - Breast invasive adenocarcinoma(129;0.13)|all cancers(50;0.21) TGAGGTGTGGCATCACTAACA 0.502 NA 126 244 6.14665e-45 1.21158e-44 0.00361 1 0 BAT5 7920 broad.mit.edu 37 6 31671050 31671050 + Missense_Mutation SNP C C A TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr6:31671050C>A uc003nvy.1 - 1 39 c.9G>T c.(7-9)AAG>AAT p.K3N BAT5_uc003nvx.1_5'Flank|BAT5_uc011dny.1_5'Flank|BAT5_uc003nvz.1_5'UTR|BAT5_uc011dnz.1_Intron|BAT5_uc010jtc.1_RNA|BAT5_uc011doa.1_5'UTR NM_021160 NP_066983 O95870 ABHGA_HUMAN HLA-B associated transcript 5 3 integral to membrane hydrolase activity|protein binding 0 AGCTCAGCAGCTTCGCCATGG 0.682 NA 15 30 2.32078e-09 2.96063e-09 0.003163 1 0 HSPA1L 3305 broad.mit.edu 37 6 31779674 31779674 + Missense_Mutation SNP C C G TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr6:31779674C>G uc003nxh.2 - 2 259 c.76G>C c.(76-78)GGC>CGC p.G26R HSPA1L_uc010jte.2_Missense_Mutation_p.G26R NM_005527 NP_005518 P34931 HS71L_HUMAN heat shock 70kDa protein 1-like 26 response to unfolded protein ATP binding ovary(3)|pleura(1)|kidney(1)|skin(1) 6 TCCACCTTGCCGTGCTGGAAC 0.607 NA 35 134 0 0 0.003271 0 0 SYNGAP1 8831 broad.mit.edu 37 6 33400564 33400564 + Nonsense_Mutation SNP C C T TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr6:33400564C>T uc011dri.1 + 5 685 c.490C>T c.(490-492)CGA>TGA p.R164* SYNGAP1_uc003oeo.1_Nonsense_Mutation_p.R149*|SYNGAP1_uc010juy.2_Nonsense_Mutation_p.R149* NM_006772 NP_006763 Q96PV0 SYGP1_HUMAN synaptic Ras GTPase activating protein 1 164 PH. negative regulation of Ras protein signal transduction|signal transduction cytoplasm|intrinsic to internal side of plasma membrane Ras GTPase activator activity|SH3 domain binding ovary(4) 4 GCCTCGCTTCCGAAGTGCTGA 0.547 NA 5 77 0 0 0.000602 0 0 GRM4 2914 broad.mit.edu 37 6 34008522 34008522 + Missense_Mutation SNP C C T TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr6:34008522C>T uc003oir.3 - 6 1342 c.1172G>A c.(1171-1173)CGT>CAT p.R391H GRM4_uc011dsn.1_Missense_Mutation_p.R344H|GRM4_uc010jvh.2_Missense_Mutation_p.R391H|GRM4_uc010jvi.2_Missense_Mutation_p.R83H|GRM4_uc003oio.2_Missense_Mutation_p.R83H|GRM4_uc003oip.2_RNA|GRM4_uc011dsl.1_Missense_Mutation_p.R251H|GRM4_uc003oiq.2_Missense_Mutation_p.R258H|GRM4_uc011dsm.1_Missense_Mutation_p.R222H NM_000841 NP_000832 Q14833 GRM4_HUMAN glutamate receptor, metabotropic 4 precursor 391 Extracellular (Potential). activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade cytoplasmic vesicle|integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity lung(3)|upper_aerodigestive_tract(1)|ovary(1)|skin(1) 6 L-Glutamic Acid(DB00142) AATTCGCTCACGGTCTGCAAT 0.597 NA 4 103 0 0 0.009096 0 0 DNAH8 1769 broad.mit.edu 37 6 38791356 38791356 + Missense_Mutation SNP C C A TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr6:38791356C>A uc003ooe.1 + 26 3688 c.3088C>A c.(3088-3090)CCC>ACC p.P1030T NM_001371 NP_001362 dynein, axonemal, heavy polypeptide 8 skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1) 21 GGCTAACAACCCCTCTCTGAC 0.318 NA 41 82 7.63091e-17 1.15096e-16 0.007835 1 0 GPR116 221395 broad.mit.edu 37 6 46826786 46826786 + Missense_Mutation SNP T T C TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr6:46826786T>C uc003oyo.3 - 17 3143 c.2854A>G c.(2854-2856)ACG>GCG p.T952A GPR116_uc011dwj.1_Missense_Mutation_p.T507A|GPR116_uc011dwk.1_Missense_Mutation_p.T381A|GPR116_uc003oyp.3_Missense_Mutation_p.T810A|GPR116_uc003oyq.3_Missense_Mutation_p.T952A|GPR116_uc010jzi.1_Missense_Mutation_p.T624A NM_001098518 NP_001091988 Q8IZF2 GP116_HUMAN G-protein coupled receptor 116 precursor 952 GPS.|Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity central_nervous_system(1)|skin(1) 2 Lung(136;0.192) ACACACTTCGTTTCGCCGCCT 0.488 NSCLC(59;410 1274 8751 36715 50546) NA 36 130 0 0 0.004289 0 0 DST 667 broad.mit.edu 37 6 56516040 56516041 + Missense_Mutation DNP GG GG AT TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 GG GG - - GG GG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr6:56516040_56516041GG>AT uc003pdf.2 - 10 1145_1146 c.1117_1118CC>AT c.(1117-1119)CCG>ATG p.P373M DST_uc003pcz.3_Missense_Mutation_p.P195M|DST_uc011dxj.1_Missense_Mutation_p.P224M|DST_uc011dxk.1_Missense_Mutation_p.P235M|DST_uc011dxl.1_Missense_Mutation_p.P224M|DST_uc003pde.2_Missense_Mutation_p.P311M NM_001144769 NP_001138241 Q03001 DYST_HUMAN dystonin isoform 2 195 CH 2.|Actin-binding. cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1) 14 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) TATCAGGTCCGGCCTAGGAAAA 0.327 NA 6 14 0 0 0.004672 0 0 RSPH4A 345895 broad.mit.edu 37 6 116938031 116938031 + Missense_Mutation SNP C C A TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr6:116938031C>A uc003pxe.2 + 1 390 c.245C>A c.(244-246)CCT>CAT p.P82H RSPH4A_uc010kee.2_Missense_Mutation_p.P82H NM_001010892 NP_001010892 Q5TD94 RSH4A_HUMAN radial spoke head 4 homolog A isoform 1 82 cilium axoneme assembly|cilium movement cytoplasm|cytoskeleton|radial spoke 0 ACATCATCACCTGCTCCTGTC 0.652 NA Kartagener_syndrome 15 42 3.45872e-05 3.88572e-05 0.004007 1 0 LAMA2 3908 broad.mit.edu 37 6 129635942 129635943 + Missense_Mutation DNP GG GG TT TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 GG GG - - GG GG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr6:129635942_129635943GG>TT uc003qbn.2 + 24 3659_3660 c.3554_3555GG>TT c.(3553-3555)TGG>TTT p.W1185F LAMA2_uc003qbo.2_Missense_Mutation_p.W1185F NM_000426 NP_000417 P24043 LAMA2_HUMAN laminin alpha 2 subunit isoform a precursor 1185 Laminin IV type A 2. cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity ovary(8)|breast(1)|skin(1) 10 OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245) ATCCGGACGTGGGTGAGTAGGG 0.48 NA 25 81 0 0 0.004672 0 0 LAMA2 3908 broad.mit.edu 37 6 129674483 129674483 + Silent SNP C C T TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr6:129674483C>T uc003qbn.2 + 32 4803 c.4698C>T c.(4696-4698)CGC>CGT p.R1566R LAMA2_uc003qbo.2_Silent_p.R1566R NM_000426 NP_000417 P24043 LAMA2_HUMAN laminin alpha 2 subunit isoform a precursor 1566 Laminin EGF-like 17. cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity ovary(8)|breast(1)|skin(1) 10 OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245) GGCATGCACGCGAGGGCTGGG 0.537 NA 24 64 0 0 0.004656 0 0 MED23 9439 broad.mit.edu 37 6 131912668 131912668 + Splice_Site SNP C C A TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr6:131912668C>A uc003qcs.1 - 26 3646 c.3472_splice c.e26-1 p.E1158_splice MED23_uc003qcq.2_Splice_Site_p.E1164_splice|MED23_uc003qcr.1_Splice_Site_p.E13_splice NM_004830 NP_004821 Q9ULK4 MED23_HUMAN mediator complex subunit 23 isoform a regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter transcription factor complex protein binding|transcription coactivator activity ovary(1)|kidney(1)|central_nervous_system(1) 3 Breast(56;0.0753) GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608) AATATGGCTCCTTTAAAATCG 0.403 NA 23 36 1.28384e-07 1.55427e-07 0.001882 1 0 MOXD1 26002 broad.mit.edu 37 6 132649636 132649636 + Missense_Mutation SNP C C T TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr6:132649636C>T uc003qdf.2 - 5 860 c.761G>A c.(760-762)GGC>GAC p.G254D MOXD1_uc003qde.2_Missense_Mutation_p.G186D NM_015529 NP_056344 Q6UVY6 MOXD1_HUMAN monooxygenase, DBH-like 1 isoform 2 254 Lumenal (Potential). catecholamine metabolic process endoplasmic reticulum membrane|integral to membrane copper ion binding|dopamine beta-monooxygenase activity ovary(1) 1 Breast(56;0.0495) OV - Ovarian serous cystadenocarcinoma(155;0.0132)|GBM - Glioblastoma multiforme(226;0.0191) GCACTCGTGGCCGGACTCCAG 0.517 NA 27 65 0 0 0.004656 0 0 OPRM1 4988 broad.mit.edu 37 6 154411267 154411267 + Silent SNP C C A TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr6:154411267C>A uc003qpr.2 + 2 834 c.597C>A c.(595-597)GCC>GCA p.A199A OPRM1_uc011efb.1_Silent_p.A247A|OPRM1_uc011efc.1_Silent_p.A118A|OPRM1_uc011efd.1_Silent_p.A99A|OPRM1_uc011efe.1_Silent_p.A292A|OPRM1_uc003qpn.2_Silent_p.A199A|OPRM1_uc003qpo.1_Silent_p.A199A|OPRM1_uc011eff.1_Silent_p.A199A|OPRM1_uc011efg.1_Silent_p.A199A|OPRM1_uc011efh.1_Silent_p.A199A|OPRM1_uc003qpq.1_Silent_p.A199A|OPRM1_uc003qpt.1_Silent_p.A199A|OPRM1_uc011efi.1_Silent_p.A199A|OPRM1_uc003qpp.2_RNA|OPRM1_uc003qps.2_RNA|OPRM1_uc010kjg.2_Silent_p.A99A|OPRM1_uc003qpu.2_Silent_p.A99A NM_000914 NP_000905 P35372 OPRM_HUMAN opioid receptor, mu 1 isoform MOR-1 199 Helical; Name=4; (Potential). behavior|negative regulation of cell proliferation|sensory perception endoplasmic reticulum|Golgi apparatus|integral to plasma membrane mu-opioid receptor activity|protein binding ovary(1) 1 Ovarian(120;0.196) OV - Ovarian serous cystadenocarcinoma(155;9.26e-11)|BRCA - Breast invasive adenocarcinoma(81;0.0154) Alfentanil(DB00802)|Anileridine(DB00913)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dezocine(DB01209)|Diphenoxylate(DB01081)|Fentanyl(DB00813)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Levallorphan(DB00504)|Levomethadyl Acetate(DB01227)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Methadyl Acetate(DB01433)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tramadol(DB00193) TCTCTTCAGCCATTGGTCTTC 0.468 NA 46 71 1.02687e-29 1.83826e-29 0.003214 1 0 SUN1 23353 broad.mit.edu 37 7 912908 912908 + Nonsense_Mutation SNP G G A TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr7:912908G>A uc011jvp.1 + 20 2377 c.2298G>A c.(2296-2298)TGG>TGA p.W766* GET4_uc003sjj.1_Intron|SUN1_uc003sjf.2_Nonsense_Mutation_p.W683*|SUN1_uc011jvq.1_Nonsense_Mutation_p.W663*|SUN1_uc003sjg.2_Nonsense_Mutation_p.W671*|SUN1_uc011jvr.1_Nonsense_Mutation_p.W564*|SUN1_uc003sji.2_Nonsense_Mutation_p.W604*|SUN1_uc003sjk.2_Nonsense_Mutation_p.W405* NM_001130965 NP_001124437 O94901 SUN1_HUMAN unc-84 homolog A isoform a 793 Perinuclear space.|SUN. cytoskeletal anchoring at nuclear membrane|nuclear matrix anchoring at nuclear membrane integral to membrane|nuclear inner membrane|SUN-KASH complex protein binding 0 TTTCTAACTGGGGCCATCCTG 0.388 NA OREG0017816 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 143 438 0 0 0.00361 0 0 PHF14 9678 broad.mit.edu 37 7 11068363 11068363 + Missense_Mutation SNP G G T TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr7:11068363G>T uc003sry.1 + 7 1808 c.1373G>T c.(1372-1374)TGT>TTT p.C458F PHF14_uc011jxi.1_Missense_Mutation_p.C173F|PHF14_uc003srz.2_Missense_Mutation_p.C458F|PHF14_uc011jxj.1_Missense_Mutation_p.C173F NM_014660 NP_055475 O94880 PHF14_HUMAN PHD finger protein 14 isoform 2 458 zinc ion binding kidney(2)|skin(1) 3 UCEC - Uterine corpus endometrioid carcinoma (126;0.205) TGCATTAGCTGTGATGCAGGG 0.448 NA 71 153 1.1794e-34 2.20532e-34 0.00361 1 0 THSD7A 221981 broad.mit.edu 37 7 11486977 11486977 + Missense_Mutation SNP C C A TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr7:11486977C>A uc003ssf.3 - 12 2932 c.2680G>T c.(2680-2682)GCC>TCC p.A894S NM_015204 NP_056019 Q9UPZ6 THS7A_HUMAN thrombospondin, type I, domain containing 7A 894 Extracellular (Potential). integral to membrane ovary(3) 3 UCEC - Uterine corpus endometrioid carcinoma (126;0.163) TGGGTAAGGGCTGGCACAGGG 0.507 NA HNSCC(18;0.044) 18 60 1.99824e-07 2.40316e-07 0.00499 1 0 TMEM106B 54664 broad.mit.edu 37 7 12270059 12270059 + Silent SNP T T C rs142177964 TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr7:12270059T>C uc011jxk.1 + 7 1027 c.627T>C c.(625-627)TAT>TAC p.Y209Y TMEM106B_uc003ssh.2_Silent_p.Y209Y NM_018374 NP_060844 Q9NUM4 T106B_HUMAN transmembrane protein 106B 209 integral to membrane 0 UCEC - Uterine corpus endometrioid carcinoma (126;0.185) AAATGAGTTATATGTAGTAAG 0.269 NA 69 107 0 0 0.00361 0 0 HDAC9 9734 broad.mit.edu 37 7 18688221 18688221 + Missense_Mutation SNP C C G TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr7:18688221C>G uc003suh.2 + 10 1414 c.1373C>G c.(1372-1374)ACG>AGG p.T458R HDAC9_uc003sue.2_Missense_Mutation_p.T458R|HDAC9_uc011jyd.1_Missense_Mutation_p.T458R|HDAC9_uc003sui.2_Missense_Mutation_p.T461R|HDAC9_uc003suj.2_Missense_Mutation_p.T417R|HDAC9_uc011jya.1_Missense_Mutation_p.T455R|HDAC9_uc003sua.1_Missense_Mutation_p.T436R|HDAC9_uc011jyb.1_Missense_Mutation_p.T414R|HDAC9_uc003sud.1_Missense_Mutation_p.T458R|HDAC9_uc011jyc.1_Missense_Mutation_p.T417R|HDAC9_uc003suf.1_Missense_Mutation_p.T489R|HDAC9_uc010kud.1_Missense_Mutation_p.T461R|HDAC9_uc011jye.1_Missense_Mutation_p.T430R|HDAC9_uc011jyf.1_Missense_Mutation_p.T381R|HDAC9_uc010kue.1_Missense_Mutation_p.T201R NM_058176 NP_478056 Q9UKV0 HDAC9_HUMAN histone deacetylase 9 isoform 1 458 B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity lung(2)|central_nervous_system(2)|kidney(1) 5 all_lung(11;0.187) Valproic Acid(DB00313) CCTCAGAGCACGTTGGCTCAG 0.507 NA 58 139 0 0 0.00361 0 0 CLK2P 1197 broad.mit.edu 37 7 23624863 23624863 + Missense_Mutation SNP G G T TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr7:23624863G>T uc003swk.2 - 1 1284 c.634C>A c.(634-636)CAG>AAG p.Q212K NR_002711 SubName: Full=cDNA FLJ61616, highly similar to Dual specificity protein kinase CLK2 (EC 2.7.12.1); SubName: Full=CDC-like kinase 2, isoform CRA_c; SubName: Full=Putative uncharacterized protein CLK2; 0 GTCAGATACTGCCGCAGCGGT 0.502 NA 81 142 1.75807e-36 3.333e-36 0.00361 1 0 ADCYAP1R1 117 broad.mit.edu 37 7 31104473 31104473 + Silent SNP C C A TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr7:31104473C>A uc003tca.1 + 3 301 c.78C>A c.(76-78)ATC>ATA p.I26I ADCYAP1R1_uc003tcb.1_Silent_p.I26I|ADCYAP1R1_uc003tcc.1_Silent_p.I26I|ADCYAP1R1_uc003tcd.1_Silent_p.I26I|ADCYAP1R1_uc003tce.1_Silent_p.I26I NM_001118 NP_001109 P41586 PACR_HUMAN adenylate cyclase activating polypeptide 1 26 Extracellular (Potential). activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|spermatogenesis integral to plasma membrane vasoactive intestinal polypeptide receptor activity ovary(1) 1 CTGACTGCATCTTCAAGAAGG 0.582 Ovarian(44;225 1186 2158 11092) NA 10 93 2.17888e-05 2.45799e-05 0.006214 1 0 NEUROD6 63974 broad.mit.edu 37 7 31378427 31378427 + Silent SNP G G A TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr7:31378427G>A uc003tch.2 - 2 809 c.456C>T c.(454-456)ATC>ATT p.I152I NM_022728 NP_073565 Q96NK8 NDF6_HUMAN neurogenic differentiation 6 152 cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding ovary(2) 2 GTCTCTTGCCGATTCTCAGAA 0.458 NA 11 214 0 0 0.010729 0 0 C7orf10 79783 broad.mit.edu 37 7 40228153 40228153 + Missense_Mutation SNP T T C TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr7:40228153T>C uc003thn.1 + 4 331 c.286T>C c.(286-288)TAT>CAT p.Y96H C7orf10_uc003thm.1_Missense_Mutation_p.Y103H|C7orf10_uc003tho.1_Missense_Mutation_p.Y96H NM_024728 NP_079004 Q9HAC7 CG010_HUMAN dermal papilla derived protein 13 103 transferase activity ovary(2) 2 AAGTACATATTATCTCAGTGT 0.338 NA 3 85 0 0 0.004672 0 0 ABCA13 154664 broad.mit.edu 37 7 48416095 48416095 + Missense_Mutation SNP G G T TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr7:48416095G>T uc003toq.2 + 35 11286 c.11261G>T c.(11260-11262)TGG>TTG p.W3754L ABCA13_uc010kys.1_Missense_Mutation_p.W828L|ABCA13_uc003tos.1_Missense_Mutation_p.W580L|ABCA13_uc010kyt.1_RNA NM_152701 NP_689914 Q86UQ4 ABCAD_HUMAN ATP binding cassette, sub-family A (ABC1), 3754 Helical; (Potential). transport integral to membrane ATP binding|ATPase activity ovary(5)|central_nervous_system(4)|skin(1) 10 ACATTTGGCTGGGTTTGCTGG 0.403 NA 62 234 4.09171e-25 6.91663e-25 0.00361 1 0 ABCA13 154664 broad.mit.edu 37 7 48654949 48654949 + Missense_Mutation SNP G G A TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr7:48654949G>A uc003toq.2 + 59 14838 c.14813G>A c.(14812-14814)GGT>GAT p.G4938D ABCA13_uc010kys.1_Missense_Mutation_p.G2013D|ABCA13_uc010kyt.1_RNA|ABCA13_uc010kyu.1_Missense_Mutation_p.G668D NM_152701 NP_689914 Q86UQ4 ABCAD_HUMAN ATP binding cassette, sub-family A (ABC1), 4938 ABC transporter 2. transport integral to membrane ATP binding|ATPase activity ovary(5)|central_nervous_system(4)|skin(1) 10 AAATGTCTTGGTTCTCCTCAG 0.418 NA 3 18 0 0 0.000602 0 0 ZNF680 340252 broad.mit.edu 37 7 64004155 64004155 + Silent SNP C C G TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr7:64004155C>G uc003tta.2 - 3 356 c.183G>C c.(181-183)CTG>CTC p.L61L ZNF680_uc010kzr.2_Intron|ZNF680_uc003ttb.2_Silent_p.L61L NM_178558 NP_848653 Q8NEM1 ZN680_HUMAN zinc finger protein 680 isoform 1 61 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Lung NSC(55;0.118)|all_lung(88;0.243) AACAGGTTATCAGGTGAGGCT 0.398 NA 77 169 0 0 0.00361 0 0 HGF 3082 broad.mit.edu 37 7 81335640 81335640 + Missense_Mutation SNP G G T TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr7:81335640G>T uc003uhl.2 - 15 1885 c.1720C>A c.(1720-1722)CCT>ACT p.P574T HGF_uc003uhm.2_Missense_Mutation_p.P569T NM_000601 NP_000592 P14210 HGF_HUMAN hepatocyte growth factor isoform 1 574 Peptidase S1. epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling platelet alpha granule lumen growth factor activity|serine-type endopeptidase activity ovary(2)|central_nervous_system(2) 4 GATCCTTCAGGGCCATATACC 0.398 NA 97 49 1.07466e-44 2.11066e-44 0.00361 1 0 SEMA3D 223117 broad.mit.edu 37 7 84669987 84669987 + Splice_Site SNP A A T TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr7:84669987A>T uc003uic.2 - 9 1086 c.1046_splice c.e9+1 p.S349_splice SEMA3D_uc010led.2_Splice_Site_p.S349_splice|SEMA3D_uc003uib.2_Splice_Site NM_152754 NP_689967 O95025 SEM3D_HUMAN semaphorin 3D precursor cell differentiation|nervous system development extracellular region|membrane receptor activity ovary(3)|large_intestine(2) 5 TGTTGAACATACCTGGTTGTA 0.299 Ovarian(63;442 1191 17318 29975 31528) NA 24 25 0 0 0.00333 0 0 PILRB 29990 broad.mit.edu 37 7 99956501 99956501 + Missense_Mutation SNP A A T TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr7:99956501A>T uc003uuk.2 + 16 2749 c.253A>T c.(253-255)AGG>TGG p.R85W PILRB_uc003uul.2_Intron|PILRB_uc003uum.1_RNA|PILRB_uc003uun.2_Missense_Mutation_p.R85W NM_013440 NP_038468 Q9UKJ0 PILRB_HUMAN paired immunoglobulin-like type 2 receptor beta 85 Extracellular (Potential).|Ig-like V-type. activation of transmembrane receptor protein tyrosine kinase activity integral to plasma membrane protein binding|receptor activity 0 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) CTACAGCACAAGGCCGCCTTC 0.547 NA 5 167 0 0 0.00308 0 0 PILRA 29992 broad.mit.edu 37 7 99971855 99971855 + Missense_Mutation SNP A A T TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr7:99971855A>T uc003uuo.1 + 2 465 c.253A>T c.(253-255)AGG>TGG p.R85W PILRA_uc011kjn.1_Missense_Mutation_p.R85W|PILRA_uc011kjo.1_Missense_Mutation_p.R85W|PILRA_uc003uup.1_Missense_Mutation_p.R85W|PILRA_uc003uuq.1_Missense_Mutation_p.R85W NM_013439 NP_038467 Q9UKJ1 PILRA_HUMAN paired immunoglobulin-like type 2 receptor alpha 85 Extracellular (Potential).|Ig-like V-type. interspecies interaction between organisms extracellular region|integral to membrane|plasma membrane protein binding|receptor activity skin(1) 1 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) CTACAGCACAAGGCCGCCTTC 0.552 NA 82 101 0 0 0.00361 0 0 MUC17 140453 broad.mit.edu 37 7 100663463 100663463 + Missense_Mutation SNP T T A TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr7:100663463T>A uc003uxp.1 + 1 100 c.47T>A c.(46-48)CTC>CAC p.L16H MUC17_uc010lho.1_RNA NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN mucin 17 precursor 16 extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity ovary(14)|skin(8)|breast(3)|lung(2) 27 Lung NSC(181;0.136)|all_lung(186;0.182) ACCTTGGTCCTCTCGCTCTTG 0.652 NA 56 37 0 0 0.00361 0 0 NRCAM 4897 broad.mit.edu 37 7 107830179 107830179 + Missense_Mutation SNP G G T TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr7:107830179G>T uc003vfb.2 - 20 2416 c.1945C>A c.(1945-1947)CCT>ACT p.P649T NRCAM_uc003vfc.2_Missense_Mutation_p.P633T|NRCAM_uc011kmk.1_Missense_Mutation_p.P644T|NRCAM_uc003vfd.2_Missense_Mutation_p.P625T|NRCAM_uc003vfe.2_Missense_Mutation_p.P625T NM_001037132 NP_001032209 Q92823 NRCAM_HUMAN neuronal cell adhesion molecule isoform A 649 Fibronectin type-III 1.|Extracellular (Potential). angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly external side of plasma membrane|integral to plasma membrane ankyrin binding ovary(3)|breast(2) 5 TCAAAGGGAGGATTTGGGACA 0.448 NA 35 21 2.42023e-17 3.68091e-17 0.003271 1 0 PPP1R3A 5506 broad.mit.edu 37 7 113519512 113519512 + Missense_Mutation SNP C C G TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr7:113519512C>G uc010ljy.1 - 4 1666 c.1635G>C c.(1633-1635)ATG>ATC p.M545I NM_002711 NP_002702 Q16821 PPR3A_HUMAN protein phosphatase 1, regulatory (inhibitor) 545 glycogen metabolic process integral to membrane lung(9)|ovary(9)|pancreas(7)|skin(6)|breast(2)|prostate(1) 34 TAGGGTTACCCATCTTCCTTT 0.413 NA 73 59 0 0 0.00361 0 0 PTPRZ1 5803 broad.mit.edu 37 7 121650791 121650791 + Missense_Mutation SNP C C G TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr7:121650791C>G uc003vjy.2 + 12 2086 c.1691C>G c.(1690-1692)TCT>TGT p.S564C PTPRZ1_uc003vjz.2_Missense_Mutation_p.S564C|PTPRZ1_uc011knt.1_Missense_Mutation_p.S14C NM_002851 NP_002842 P23471 PTPRZ_HUMAN protein tyrosine phosphatase, receptor-type, 564 Extracellular (Potential). central nervous system development integral to plasma membrane protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity ovary(3)|large_intestine(2)|lung(2)|central_nervous_system(1)|kidney(1) 9 AATACAGTTTCTATAACAGAA 0.423 NA 59 36 0 0 0.00361 0 0 IQUB 154865 broad.mit.edu 37 7 123105065 123105065 + Splice_Site SNP T T A TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr7:123105065T>A uc003vkn.2 - 10 2159 c.1582_splice c.e10-1 p.E528_splice IQUB_uc003vko.2_Splice_Site_p.E528_splice|IQUB_uc010lkt.2_Splice_Site|IQUB_uc003vkp.1_Splice_Site_p.E528_splice NM_178827 NP_849149 Q8NA54 IQUB_HUMAN IQ motif and ubiquitin domain containing ovary(3)|large_intestine(1) 4 TTCATGTTCCTATATAAAACA 0.308 NA 102 74 0 0 0.00361 0 0 ARF5 381 broad.mit.edu 37 7 127231266 127231266 + Splice_Site SNP G G T TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr7:127231266G>T uc003vmb.1 + 6 493 c.457_splice c.e6-1 p.W153_splice FSCN3_uc003vmc.1_5'Flank|FSCN3_uc011kog.1_5'Flank|FSCN3_uc011koh.1_5'Flank|FSCN3_uc003vmd.1_5'Flank|FSCN3_uc010llc.1_5'Flank NM_001662 NP_001653 P84085 ARF5_HUMAN ADP-ribosylation factor 5 protein transport|small GTPase mediated signal transduction|vesicle-mediated transport Golgi apparatus|perinuclear region of cytoplasm GTP binding|GTPase activity|protein binding ovary(1) 1 TTTCCCCACAGTGGTATGTCC 0.552 NA 38 48 8.73648e-17 1.31047e-16 0.004289 1 0 CCDC136 64753 broad.mit.edu 37 7 128452070 128452071 + Missense_Mutation DNP GG GG TT TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 GG GG - - GG GG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr7:128452070_128452071GG>TT uc003vnv.1 + 13 2612_2613 c.2245_2246GG>TT c.(2245-2247)GGT>TTT p.G749F CCDC136_uc003vnu.1_Intron|CCDC136_uc003vnw.1_Intron|CCDC136_uc003vnx.1_Missense_Mutation_p.G565F|CCDC136_uc010llq.1_Missense_Mutation_p.G118F|CCDC136_uc003vny.1_Missense_Mutation_p.G359F NM_022742 NP_073579 Q96JN2 CC136_HUMAN coiled-coil domain containing 136 749 integral to membrane protein binding ovary(2) 2 GAAGAGCTATGGTAGCATGGTC 0.5 NA 83 64 0 0 0.004672 0 0 FLNC 2318 broad.mit.edu 37 7 128486498 128486498 + Silent SNP C C A TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr7:128486498C>A uc003vnz.3 + 23 4317 c.4108C>A c.(4108-4110)CGA>AGA p.R1370R FLNC_uc003voa.3_Silent_p.R1370R NM_001458 NP_001449 Q14315 FLNC_HUMAN gamma filamin isoform a 1370 Filamin 12. cell junction assembly cytoskeleton|cytosol|plasma membrane|sarcomere actin binding breast(5)|large_intestine(3)|ovary(2)|central_nervous_system(1)|skin(1) 12 CAAGGCCAACCGATTCACTGT 0.642 NA 53 63 5.10508e-28 8.87699e-28 0.00361 1 0 FLNC 2318 broad.mit.edu 37 7 128487758 128487758 + Silent SNP G G A TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr7:128487758G>A uc003vnz.3 + 25 4505 c.4296G>A c.(4294-4296)CCG>CCA p.P1432P FLNC_uc003voa.3_Silent_p.P1432P NM_001458 NP_001449 Q14315 FLNC_HUMAN gamma filamin isoform a 1432 Filamin 12. cell junction assembly cytoskeleton|cytosol|plasma membrane|sarcomere actin binding breast(5)|large_intestine(3)|ovary(2)|central_nervous_system(1)|skin(1) 12 CAGGGAGCCCGTTCCGCGTGC 0.647 NA 21 125 0 0 0.001882 0 0 TSGA13 114960 broad.mit.edu 37 7 130353924 130353924 + Missense_Mutation SNP G G T TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr7:130353924G>T uc003vqi.2 - 8 1215 c.758C>A c.(757-759)CCC>CAC p.P253H COPG2_uc003vqh.1_5'Flank|TSGA13_uc003vqj.2_Missense_Mutation_p.P253H NM_052933 NP_443165 Q96PP4 TSG13_HUMAN testis specific, 13 253 ovary(2) 2 Melanoma(18;0.0435) GCTCTCCCCGGGCGCGGTTCT 0.597 NA 166 117 4.49191e-84 9.32542e-84 0.00361 1 0 PLXNA4 91584 broad.mit.edu 37 7 131830026 131830026 + Missense_Mutation SNP C C A TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr7:131830026C>A uc003vra.3 - 29 5306 c.5077G>T c.(5077-5079)GAT>TAT p.D1693Y PLXNA4_uc003vqz.3_5'UTR NM_020911 NP_065962 Q9HCM2 PLXA4_HUMAN plexin A4 isoform 1 1693 Cytoplasmic (Potential). integral to membrane|intracellular|plasma membrane ovary(1) 1 AAGAGGTCATCCACAAACTTC 0.537 NA 26 24 4.59853e-10 6.00669e-10 0.005443 1 0 NUP205 23165 broad.mit.edu 37 7 135304240 135304240 + Missense_Mutation SNP C C T TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr7:135304240C>T uc003vsw.2 + 29 4064 c.4033C>T c.(4033-4035)CAC>TAC p.H1345Y NUP205_uc003vsx.2_5'Flank NM_015135 NP_055950 Q92621 NU205_HUMAN nucleoporin 205kDa 1345 carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction nuclear pore protein binding ovary(3)|breast(1)|central_nervous_system(1)|skin(1) 6 ACTGACTGCTCACCTAAGCCA 0.502 NA 19 101 0 0 0.007413 0 0 MGAM 8972 broad.mit.edu 37 7 141755521 141755521 + Missense_Mutation SNP C C A TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr7:141755521C>A uc003vwy.2 + 28 3532 c.3478C>A c.(3478-3480)CCA>ACA p.P1160T NM_004668 NP_004659 O43451 MGA_HUMAN maltase-glucoamylase 1160 Glucoamylase.|Lumenal (Potential). polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity ovary(2) 2 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) AGACCAGCCCCCAGGGGTAAG 0.547 NA 51 57 5.13769e-22 8.27486e-22 0.00361 1 0 MGAM 8972 broad.mit.edu 37 7 141759688 141759688 + Silent SNP T T C TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr7:141759688T>C uc003vwy.2 + 33 4035 c.3981T>C c.(3979-3981)CCT>CCC p.P1327P NM_004668 NP_004659 O43451 MGA_HUMAN maltase-glucoamylase 1327 Glucoamylase.|Lumenal (Potential). polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity ovary(2) 2 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) AGACACAGCCTTATCCTGCCT 0.463 NA 3 35 0 0 0.004672 0 0 EPHA1 2041 broad.mit.edu 37 7 143096426 143096426 + Nonsense_Mutation SNP C C A TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr7:143096426C>A uc003wcz.2 - 5 1003 c.916G>T c.(916-918)GAG>TAG p.E306* NM_005232 NP_005223 P21709 EPHA1_HUMAN ephrin receptor EphA1 precursor 306 Extracellular (Potential).|Cys-rich. integral to plasma membrane ATP binding|ephrin receptor activity ovary(3)|lung(1)|breast(1) 5 Melanoma(164;0.205) Myeloproliferative disorder(862;0.0255) GTGGCCCCCTCAGACTCAGCA 0.657 NA 62 37 5.0973e-17 7.73091e-17 0.00361 1 0 CSMD1 64478 broad.mit.edu 37 8 2876097 2876097 + Missense_Mutation SNP G G C TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr8:2876097G>C uc011kwk.1 - 52 8324 c.7934C>G c.(7933-7935)GCT>GGT p.A2645G CSMD1_uc011kwj.1_Missense_Mutation_p.A1974G|CSMD1_uc010lrg.2_Intron NM_033225 NP_150094 Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 precursor 2645 Extracellular (Potential).|Sushi 17. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) CGTAAATATAGCTGTGGCCCC 0.483 NA 42 237 0 0 0.00361 0 0 XKR6 286046 broad.mit.edu 37 8 10755798 10755798 + Silent SNP C C A rs61745501 byFrequency TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr8:10755798C>A uc003wtk.1 - 3 1617 c.1590G>T c.(1588-1590)GCG>GCT p.A530A NM_173683 NP_775954 Q5GH73 XKR6_HUMAN XK, Kell blood group complex subunit-related 530 integral to membrane ovary(1)|skin(1) 2 Lung(29;0.0407)|COAD - Colon adenocarcinoma(149;0.0555) GGATCTCAGGCGCCATGGGCT 0.612 NA 23 46 7.88262e-20 1.24751e-19 0.00333 1 0 GATA4 2626 broad.mit.edu 37 8 11607724 11607724 + Silent SNP C C G TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr8:11607724C>G uc003wuc.2 + 4 1442 c.888C>G c.(886-888)GGC>GGG p.G296G GATA4_uc003wub.1_Silent_p.G90G|GATA4_uc011kxc.1_Silent_p.G297G NM_002052 NP_002043 P43694 GATA4_HUMAN GATA binding protein 4 296 G -> S (in ASD2). atrial septum primum morphogenesis|atrial septum secundum morphogenesis|blood coagulation|cardiac right ventricle morphogenesis|cell-cell signaling|embryonic foregut morphogenesis|embryonic heart tube anterior/posterior pattern formation|endocardial cushion development|endoderm development|heart looping|intestinal epithelial cell differentiation|male gonad development|positive regulation of angiogenesis|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation vascular endothelial growth factor production|response to drug|transcription from RNA polymerase II promoter|ventricular septum development nucleoplasm activating transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding central_nervous_system(1) 1 all_epithelial(15;0.0839) STAD - Stomach adenocarcinoma(15;0.00225) COAD - Colon adenocarcinoma(149;0.199) ATGCCTGCGGCCTCTACATGA 0.637 NA 33 58 0 0 0.003271 0 0 ZNF705D 728957 broad.mit.edu 37 8 11970596 11970596 + Missense_Mutation SNP C C A TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr8:11970596C>A uc003wva.2 + 7 1254 c.832C>A c.(832-834)CAC>AAC p.H278N FAM66D_uc011kxp.1_5'Flank|FAM66D_uc011kxo.1_5'Flank NM_001039615 NP_001034704 P0CH99 Z705D_HUMAN zinc finger protein 705D 278 C2H2-type 4; degenerate. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 CAAAATAATTCACATTGGAGA 0.428 NA 10 66 1.15088e-07 1.40263e-07 0.004007 1 0 LZTS1 11178 broad.mit.edu 37 8 20112440 20112440 + Missense_Mutation SNP G G T TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr8:20112440G>T uc003wzr.2 - 1 364 c.253C>A c.(253-255)CTG>ATG p.L85M LZTS1_uc010ltg.1_Missense_Mutation_p.L85M NM_021020 NP_066300 Q9Y250 LZTS1_HUMAN leucine zipper, putative tumor suppressor 1 85 cell cycle|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter cell junction|dendritic spine|Golgi apparatus|nucleolus|nucleoplasm|postsynaptic density|postsynaptic membrane DNA binding|protein binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207) CCGCTGGACAGTGCCGTGTAA 0.577 NA 35 71 3.62531e-18 5.63937e-18 0.004289 1 0 TNFRSF10C 8794 broad.mit.edu 37 8 22969320 22969320 + Missense_Mutation SNP G G A TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr8:22969320G>A uc003xcy.2 + 2 349 c.148G>A c.(148-150)GGG>AGG p.G50R TNFRSF10C_uc011kzr.1_Intron NM_003841 NP_003832 O14798 TR10C_HUMAN tumor necrosis factor receptor superfamily, 50 TNFR-Cys 1. apoptosis anchored to membrane|integral to plasma membrane TRAIL binding|transmembrane receptor activity 0 Prostate(55;0.0421)|Breast(100;0.067) Colorectal(74;0.0147)|COAD - Colon adenocarcinoma(73;0.0612) CAGCTTCAAGGGGGAGGAGTG 0.398 NA 6 59 0 0 0.00308 0 0 ADAM7 8756 broad.mit.edu 37 8 24350690 24350690 + Missense_Mutation SNP A A T TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr8:24350690A>T uc003xeb.2 + 16 1903 c.1790A>T c.(1789-1791)GAT>GTT p.D597V ADAM7_uc003xec.2_Missense_Mutation_p.D369V NM_003817 NP_003808 Q9H2U9 ADAM7_HUMAN a disintegrin and metalloproteinase domain 7 597 Extracellular (Potential).|Cys-rich. proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding skin(3)|ovary(1)|kidney(1) 5 Prostate(55;0.0181) Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182) TTATACCATGATTCTACAGAC 0.403 NA 24 49 0 0 0.00333 0 0 PTK2B 2185 broad.mit.edu 37 8 27312084 27312084 + Missense_Mutation SNP G G T TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr8:27312084G>T uc003xfn.1 + 35 3578 c.2770G>T c.(2770-2772)GTG>TTG p.V924L PTK2B_uc003xfo.1_Missense_Mutation_p.V924L|PTK2B_uc003xfp.1_Missense_Mutation_p.V924L|PTK2B_uc003xfq.1_Missense_Mutation_p.V882L NM_173174 NP_775266 Q14289 FAK2_HUMAN PTK2B protein tyrosine kinase 2 beta isoform a 924 Focal adhesion targeting (FAT).|Interaction with TGFB1I1 (By similarity). apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly cytosol ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity lung(3)|ovary(1)|skin(1) 5 Ovarian(32;2.72e-05) UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229) CATCGGGAGCGTGGATGATCT 0.587 NA 11 75 2.80697e-09 3.5642e-09 0.010729 1 0 GOT1L1 137362 broad.mit.edu 37 8 37794885 37794885 + Missense_Mutation SNP G G T TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr8:37794885G>T uc011lbj.1 - 4 529 c.429C>A c.(427-429)TTC>TTA p.F143L NM_152413 NP_689626 Q8NHS2 AATC2_HUMAN glutamic-oxaloacetic transaminase 1-like 1 143 biosynthetic process|cellular amino acid metabolic process cytoplasm pyridoxal phosphate binding|transaminase activity ovary(1) 1 Colorectal(12;0.00627) Lung NSC(58;0.118)|all_lung(54;0.195) LUSC - Lung squamous cell carcinoma(8;1.37e-11) CCATGTCCTGGAAGACGAGTC 0.542 NA 11 15 1.58986e-06 1.85484e-06 0.008291 1 0 SNTG1 54212 broad.mit.edu 37 8 51351136 51351136 + Missense_Mutation SNP G G A TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr8:51351136G>A uc010lxy.1 + 6 567 c.196G>A c.(196-198)GGA>AGA p.G66R SNTG1_uc003xqs.1_Missense_Mutation_p.G66R|SNTG1_uc010lxz.1_Missense_Mutation_p.G66R|SNTG1_uc011ldl.1_RNA NM_018967 NP_061840 Q9NSN8 SNTG1_HUMAN syntrophin, gamma 1 66 PDZ. cell communication cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex actin binding|protein C-terminus binding ovary(5) 5 all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22) ACAAACAGTAGGAGGATTTGG 0.383 NA 9 33 0 0 0.004482 0 0 PXDNL 137902 broad.mit.edu 37 8 52287227 52287227 + Missense_Mutation SNP C C A TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr8:52287227C>A uc003xqu.3 - 18 3723 c.3622G>T c.(3622-3624)GGT>TGT p.G1208C PXDNL_uc003xqt.3_RNA NM_144651 NP_653252 A1KZ92 PXDNL_HUMAN peroxidasin homolog-like precursor 1208 hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity ovary(1)|pancreas(1) 2 all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015) ACTCTTGTACCAGGAATCAGG 0.478 NA 11 69 3.86212e-05 4.29474e-05 0.008291 1 0 PXDNL 137902 broad.mit.edu 37 8 52320977 52320977 + Silent SNP G G T TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr8:52320977G>T uc003xqu.3 - 17 3308 c.3207C>A c.(3205-3207)GCC>GCA p.A1069A PXDNL_uc003xqt.3_RNA NM_144651 NP_653252 A1KZ92 PXDNL_HUMAN peroxidasin homolog-like precursor 1069 hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity ovary(1)|pancreas(1) 2 all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015) CACCTAAGGTGGCATTCAGTC 0.468 NA 23 39 2.98393e-07 3.57287e-07 0.00278 1 0 PRDM14 63978 broad.mit.edu 37 8 70981463 70981463 + Silent SNP G G T TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr8:70981463G>T uc003xym.2 - 2 835 c.633C>A c.(631-633)CCC>CCA p.P211P NM_024504 NP_078780 Q9GZV8 PRD14_HUMAN PR domain containing 14 211 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(3) 3 Breast(64;0.193) Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405) GCTCCAGGCTGGGAGTGACCC 0.592 NSCLC(129;99 1813 5906 40656 46114) NA 47 110 1.47857e-17 2.2677e-17 0.00361 1 0 DCAF4L2 138009 broad.mit.edu 37 8 88886197 88886197 + Missense_Mutation SNP C C A TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr8:88886197C>A uc003ydz.2 - 1 100 c.3G>T c.(1-3)ATG>ATT p.M1I NM_152418 NP_689631 Q8NA75 DC4L2_HUMAN WD repeat domain 21C 1 ovary(1) 1 TTTTGCTCTCCATTTCGTTCG 0.522 NA 23 38 3.28513e-13 4.6955e-13 0.003954 1 0 LRRC6 23639 broad.mit.edu 37 8 133673737 133673737 + Silent SNP G G T TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr8:133673737G>T uc003ytk.2 - 2 221 c.147C>A c.(145-147)CTC>CTA p.L49L LRRC6_uc003ytl.2_RNA NM_012472 NP_036604 Q86X45 LRRC6_HUMAN leucine rich repeat containing 6 49 LRR 2. cytoplasm ovary(1)|kidney(1) 2 Ovarian(258;0.00352)|Esophageal squamous(12;0.00507)|all_neural(3;0.0052)|Medulloblastoma(3;0.0922)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000311) TTTGAAGATAGAGAATTTTTA 0.358 NA 10 60 2.17888e-05 2.45799e-05 0.006214 1 0 TG 7038 broad.mit.edu 37 8 134042065 134042065 + Splice_Site SNP G G T TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr8:134042065G>T uc003ytw.2 + 41 7078 c.7037_splice c.e41-1 p.G2346_splice TG_uc010mdw.2_Splice_Site_p.G1105_splice|TG_uc011ljb.1_Splice_Site_p.G715_splice|TG_uc011ljc.1_Splice_Site_p.G479_splice NM_003235 NP_003226 P01266 THYG_HUMAN thyroglobulin precursor hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation extracellular space hormone activity ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1) 15 Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735) BRCA - Breast invasive adenocarcinoma(115;0.000701) KIRC - Kidney renal clear cell carcinoma(542;0.0546) CTTTTCTGAAGGGTCCGGAGA 0.572 NA 18 47 1.96292e-10 2.59505e-10 0.010504 1 0 FAM135B 51059 broad.mit.edu 37 8 139151256 139151256 + Missense_Mutation SNP A A T TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr8:139151256A>T uc003yuy.2 - 18 4045 c.3874T>A c.(3874-3876)TTC>ATC p.F1292I FAM135B_uc003yux.2_Missense_Mutation_p.F1193I|FAM135B_uc003yuz.2_RNA NM_015912 NP_056996 Q49AJ0 F135B_HUMAN hypothetical protein LOC51059 1292 ovary(7)|skin(2) 9 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) TGGTAGAGGAAACATTTGCGC 0.433 NA HNSCC(54;0.14) 25 101 0 0 0.007291 0 0 COL22A1 169044 broad.mit.edu 37 8 139688869 139688869 + Missense_Mutation SNP C C T TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr8:139688869C>T uc003yvd.2 - 41 3529 c.3082G>A c.(3082-3084)GGA>AGA p.G1028R COL22A1_uc011ljo.1_Missense_Mutation_p.G308R NM_152888 NP_690848 Q8NFW1 COMA1_HUMAN collagen, type XXII, alpha 1 1028 Pro-rich.|Gly-rich. cell adhesion collagen|cytoplasm structural molecule activity ovary(11)|pancreas(1)|skin(1) 13 all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0517) CCAGGAGCTCCTCGATCCCCC 0.507 NA HNSCC(7;0.00092) 4 3 0 0 0.009096 0 0 BAI1 575 broad.mit.edu 37 8 143623594 143623594 + Silent SNP G G T TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr8:143623594G>T uc003ywm.2 + 27 4182 c.3999G>T c.(3997-3999)CTG>CTT p.L1333L NM_001702 NP_001693 O14514 BAI1_HUMAN brain-specific angiogenesis inhibitor 1 1333 Cytoplasmic (Potential). axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development cell-cell junction|integral to plasma membrane G-protein coupled receptor activity|protein binding lung(3)|ovary(2)|breast(1)|central_nervous_system(1)|pancreas(1) 8 all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155) ACTCGGAGCTGAGCCGGGCCC 0.642 NA 46 71 4.18559e-23 6.90432e-23 0.00361 1 0 EPPK1 83481 broad.mit.edu 37 8 144942384 144942384 + Silent SNP G G A TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr8:144942384G>A uc003zaa.1 - 1 5051 c.5038C>T c.(5038-5040)CTG>TTG p.L1680L NM_031308 NP_112598 P58107 EPIPL_HUMAN epiplakin 1 1680 Plectin 29. cytoplasm|cytoskeleton protein binding|structural molecule activity pancreas(1)|skin(1) 2 all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) GCCTCCAGCAGGCGGATGCCG 0.687 NA 24 110 0 0 0.00278 0 0 RLN2 6019 broad.mit.edu 37 9 5300244 5300244 + Missense_Mutation SNP T T A TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr9:5300244T>A uc003zja.1 - 2 412 c.412A>T c.(412-414)AGT>TGT p.S138C RLN2_uc003ziz.1_3'UTR NM_134441 NP_604390 P04090 REL2_HUMAN relaxin 2 isoform 1 preproprotein 138 female pregnancy extracellular region hormone activity 0 all_hematologic(13;0.137) Acute lymphoblastic leukemia(23;0.158) GBM - Glioblastoma multiforme(50;0.0201)|Lung(218;0.0987) GCGGCTTCACTTTGTCTATTG 0.378 NA 41 139 0 0 0.006999 0 0 TYRP1 7306 broad.mit.edu 37 9 12708116 12708116 + Nonsense_Mutation SNP G G T TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr9:12708116G>T uc003zkv.3 + 7 1559 c.1381G>T c.(1381-1383)GGA>TGA p.G461* NM_000550 NP_000541 P17643 TYRP1_HUMAN tyrosinase-related protein 1 precursor 461 Lumenal, melanosome (Potential). melanin biosynthetic process clathrin-coated endocytic vesicle membrane|endosome membrane|integral to membrane|melanosome membrane copper ion binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, another compound as one donor, and incorporation of one atom of oxygen|protein heterodimerization activity|protein homodimerization activity lung(1) 1 all_cancers(3;3.1e-05)|all_lung(3;1.7e-06)|Lung NSC(3;2.09e-06)|all_epithelial(3;0.000695)|all_hematologic(3;0.0033)|Acute lymphoblastic leukemia(23;0.0744) GBM - Glioblastoma multiforme(50;9.85e-06) AGACAACCTGGGATACACTTA 0.388 NA Oculocutaneous_Albinism 21 33 1.50039e-11 2.04293e-11 0.001882 1 0 IFNA7 3444 broad.mit.edu 37 9 21202067 21202067 + Missense_Mutation SNP C C A TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr9:21202067C>A uc003zop.1 - 1 138 c.98G>T c.(97-99)CGT>CTT p.R33L IFNA14_uc003zoo.1_Intron NM_021057 NP_066401 P01567 IFNA7_HUMAN interferon, alpha 7 precursor 33 blood coagulation|cell-cell signaling|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway extracellular space cytokine activity|interferon-alpha/beta receptor binding 0 GBM - Glioblastoma multiforme(5;4.75e-197)|Lung(24;1.26e-23)|LUSC - Lung squamous cell carcinoma(38;1.4e-13) CCTCCTATTACGCAGGCTGTG 0.507 NA 24 150 3.83957e-06 4.4228e-06 0.00278 1 0 TAF1L 138474 broad.mit.edu 37 9 32632739 32632739 + Missense_Mutation SNP G G A TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr9:32632739G>A uc003zrg.1 - 1 2929 c.2839C>T c.(2839-2841)CAC>TAC p.H947Y uc003zrh.1_5'Flank NM_153809 NP_722516 Q8IZX4 TAF1L_HUMAN TBP-associated factor RNA polymerase 1-like 947 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) GGAGCAGCGTGAACTTCATCA 0.493 NA 33 168 0 0 0.012213 0 0 TAF1L 138474 broad.mit.edu 37 9 32633201 32633201 + Silent SNP G G T TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr9:32633201G>T uc003zrg.1 - 1 2467 c.2377C>A c.(2377-2379)CGG>AGG p.R793R uc003zrh.1_5'Flank NM_153809 NP_722516 Q8IZX4 TAF1L_HUMAN TBP-associated factor RNA polymerase 1-like 793 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) ACTAATTCCCGAATATAGTAA 0.438 NA 23 154 1.10513e-12 1.56322e-12 0.002299 1 0 ZCCHC7 84186 broad.mit.edu 37 9 37126597 37126597 + Nonsense_Mutation SNP G G T TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr9:37126597G>T uc003zzq.2 + 2 441 c.268G>T c.(268-270)GAG>TAG p.E90* ZCCHC7_uc011lqh.1_Intron|ZCCHC7_uc011lqi.1_Nonsense_Mutation_p.E89*|ZCCHC7_uc010mlt.2_Nonsense_Mutation_p.E89*|ZCCHC7_uc003zzs.1_Nonsense_Mutation_p.E89* NM_032226 NP_115602 Q8N3Z6 ZCHC7_HUMAN zinc finger, CCHC domain containing 7 90 nucleic acid binding|zinc ion binding ovary(1)|central_nervous_system(1)|skin(1) 3 GBM - Glioblastoma multiforme(29;0.0137) AGATGGGTCAGAGGTCATCAC 0.398 NA 30 228 3.90053e-15 5.77151e-15 0.012213 1 0 RORB 6096 broad.mit.edu 37 9 77257566 77257566 + Missense_Mutation SNP G G T TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr9:77257566G>T uc004aji.2 + 4 554 c.505G>T c.(505-507)GTC>TTC p.V169F RORB_uc004ajh.2_Missense_Mutation_p.V158F NM_006914 NP_008845 Q92753 RORB_HUMAN RAR-related orphan receptor B 169 Hinge (Potential). eye photoreceptor cell development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|visual perception nucleoplasm sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding ovary(2)|lung(1)|skin(1) 4 TTATTACAACGTCGATTCCGG 0.512 NA 22 64 1.40151e-16 2.09651e-16 0.010504 1 0 SLC28A3 64078 broad.mit.edu 37 9 86905119 86905119 + Missense_Mutation SNP C C A rs11568388 TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr9:86905119C>A uc010mpz.2 - 11 1224 c.1099G>T c.(1099-1101)GGG>TGG p.G367W SLC28A3_uc011lsy.1_Missense_Mutation_p.G298W|SLC28A3_uc004anu.1_Missense_Mutation_p.G367W NM_022127 NP_071410 Q9HAS3 S28A3_HUMAN concentrative Na+-nucleoside cotransporter 367 Helical; (Potential). G -> R (reduced transport of inosine and thymidine). nucleobase, nucleoside and nucleotide metabolic process integral to membrane|plasma membrane nucleoside binding upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)|skin(1) 4 GTAGAGAACCCGGCGGTCATG 0.458 Ovarian(106;425 1539 34835 42413 43572) NA 15 70 2.31682e-05 2.60822e-05 0.003163 1 0 FAM75C1 441452 broad.mit.edu 37 9 90536968 90536968 + Missense_Mutation SNP C C A TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr9:90536968C>A uc010mqi.2 + 4 2175 c.2146C>A c.(2146-2148)CCA>ACA p.P716T FAM75C1_uc004apq.3_Missense_Mutation_p.P699T NM_001145124 NP_001138596 family with sequence similarity 75, member C1 0 CCTTGGAGAGCCACCAATGGC 0.542 NA 15 101 2.32078e-09 2.96063e-09 0.003163 1 0 Unknown 0 broad.mit.edu 37 9 90745717 90745717 + Silent SNP C C A TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr9:90745717C>A uc011lti.1 - 4 2264 c.2235G>T c.(2233-2235)CCG>CCT p.P745P uc004apx.1_5'Flank SubName: Full=cDNA FLJ59639; NA GGATCCCTCGCGGGGCCCTCT 0.567 NA 10 64 5.50884e-06 6.30571e-06 0.001368 1 0 Unknown 0 broad.mit.edu 37 9 90746009 90746009 + Missense_Mutation SNP G G T TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr9:90746009G>T uc011lti.1 - 4 1972 c.1943C>A c.(1942-1944)GCC>GAC p.A648D SubName: Full=cDNA FLJ59639; NA CACAATATGGGCTCCCAGCAC 0.532 NA 38 207 5.73435e-26 9.78423e-26 0.00361 1 0 GRIN3A 116443 broad.mit.edu 37 9 104432903 104432903 + Silent SNP G G T TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr9:104432903G>T uc004bbp.1 - 3 2392 c.1791C>A c.(1789-1791)CTC>CTA p.L597L GRIN3A_uc004bbq.1_Silent_p.L597L NM_133445 NP_597702 Q8TCU5 NMD3A_HUMAN glutamate receptor, ionotropic, 597 Extracellular (Potential). response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding ovary(4)|pancreas(1)|central_nervous_system(1)|skin(1) 7 Acute lymphoblastic leukemia(62;0.0568) Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740) CTACAATATAGAGGTCGAAGT 0.453 NA 14 85 9.05144e-12 1.25116e-11 0.001855 1 0 OR13C3 138803 broad.mit.edu 37 9 107298376 107298376 + Missense_Mutation SNP G G C TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr9:107298376G>C uc004bcb.1 - 1 719 c.719C>G c.(718-720)CCA>CGA p.P240R NM_001001961 NP_001001961 Q8NGS6 O13C3_HUMAN olfactory receptor, family 13, subfamily C, 240 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity pancreas(1) 1 GACCATCAGTGGAAGAACCAG 0.428 GBM(86;1248 1274 14222 15028 46219) NA 17 102 0 0 0.00499 0 0 SLC44A1 23446 broad.mit.edu 37 9 108127811 108127811 + Missense_Mutation SNP G G T TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr9:108127811G>T uc004bcn.2 + 11 1522 c.1301G>T c.(1300-1302)CGC>CTC p.R434L SLC44A1_uc010mtk.1_Missense_Mutation_p.R434L|SLC44A1_uc004bco.1_Missense_Mutation_p.R226L NM_080546 NP_536856 Q8WWI5 CTL1_HUMAN CDW92 antigen 434 Mitochondrial intermembrane (Potential). integral to membrane|mitochondrial outer membrane|plasma membrane choline transmembrane transporter activity breast(3)|ovary(1) 4 Choline(DB00122) TCAGTAAATCGCCTTATTCGT 0.363 NA 16 89 6.31663e-08 7.75029e-08 0.003163 1 0 TLR4 7099 broad.mit.edu 37 9 120476354 120476354 + Silent SNP C C T TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr9:120476354C>T uc004bjz.2 + 3 2239 c.1948C>T c.(1948-1950)CTG>TTG p.L650L TLR4_uc004bka.2_Silent_p.L610L|TLR4_uc004bkb.2_Silent_p.L450L NM_138554 NP_612564 O00206 TLR4_HUMAN toll-like receptor 4 precursor 650 Helical; (Potential). activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|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 platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm lipopolysaccharide receptor activity|transmembrane receptor activity lung(10)|ovary(4)|breast(1)|skin(1) 16 TGTAGCAGTTCTGGTCTATAA 0.428 NA 20 37 0 0 0.007413 0 0 GSN 2934 broad.mit.edu 37 9 124088797 124088797 + Missense_Mutation SNP T T C TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr9:124088797T>C uc004blf.1 + 12 1638 c.1577T>C c.(1576-1578)GTG>GCG p.V526A GSN_uc004bld.1_Missense_Mutation_p.V475A|GSN_uc010mvq.1_Missense_Mutation_p.V486A|GSN_uc010mvr.1_Missense_Mutation_p.V486A|GSN_uc010mvu.1_Missense_Mutation_p.V475A|GSN_uc010mvt.1_Missense_Mutation_p.V475A|GSN_uc010mvs.1_Missense_Mutation_p.V475A|GSN_uc004ble.1_Missense_Mutation_p.V475A|GSN_uc010mvv.1_Missense_Mutation_p.V475A|GSN_uc011lyh.1_Missense_Mutation_p.V492A|GSN_uc011lyi.1_Missense_Mutation_p.V475A|GSN_uc011lyj.1_Missense_Mutation_p.V499A|GSN_uc004blg.1_Missense_Mutation_p.V257A NM_000177 NP_000168 P06396 GELS_HUMAN gelsolin isoform a precursor 526 Actin-binding, Ca-sensitive (Potential). actin filament polymerization|actin filament severing|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|cilium morphogenesis actin cytoskeleton|cytosol actin binding|calcium ion binding|protein binding breast(2)|ovary(1) 3 CAGAGCCGTGTGGTCCAAGGC 0.637 NA 8 62 0 0 0.004482 0 0 ENG 2022 broad.mit.edu 37 9 130588868 130588868 + Missense_Mutation SNP C C A TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr9:130588868C>A uc004bsj.3 - 4 857 c.444G>T c.(442-444)GAG>GAT p.E148D ENG_uc011mam.1_5'UTR|ENG_uc004bsk.3_Missense_Mutation_p.E148D NM_001114753 NP_001108225 P17813 EGLN_HUMAN endoglin isoform 1 precursor 148 Extracellular (Potential). artery morphogenesis|BMP signaling pathway|cell adhesion|cell chemotaxis|central nervous system vasculogenesis|chronological cell aging|detection of hypoxia|extracellular matrix disassembly|heart looping|negative regulation of endothelial cell proliferation|negative regulation of nitric-oxide synthase activity|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of protein autophosphorylation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|patterning of blood vessels|positive regulation of BMP signaling pathway|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of systemic arterial blood pressure|positive regulation of transcription from RNA polymerase II promoter|regulation of cell adhesion|regulation of cell proliferation|regulation of transcription, DNA-dependent|regulation of transforming growth factor beta receptor signaling pathway|smooth muscle tissue development|transforming growth factor beta receptor signaling pathway|venous blood vessel morphogenesis|wound healing cell surface|external side of plasma membrane|extracellular space|membrane fraction activin binding|galactose binding|glycosaminoglycan binding|protein homodimerization activity|transforming growth factor beta binding|transforming growth factor beta receptor activity|transforming growth factor beta receptor, cytoplasmic mediator activity|transmembrane receptor activity|type I transforming growth factor beta receptor binding|type II transforming growth factor beta receptor binding 0 CAGCTGCCCACTCAAGGATCT 0.612 NA Juvenile_Polyposis|Hereditary_Hemorrhagic_Telangiectasia 15 98 1.45105e-14 2.11838e-14 0.006122 1 0 ASS1 445 broad.mit.edu 37 9 133364724 133364724 + Missense_Mutation SNP C C G TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr9:133364724C>G uc004bzm.2 + 13 1199 c.843C>G c.(841-843)ATC>ATG p.I281M ASS1_uc004bzn.2_Missense_Mutation_p.I281M|ASS1_uc010mza.2_Missense_Mutation_p.I357M|ASS1_uc004bzo.2_Missense_Mutation_p.I262M|ASS1_uc010mzb.2_Missense_Mutation_p.I319M|ASS1_uc004bzp.2_Missense_Mutation_p.I281M|ASS1_uc010mzc.2_Missense_Mutation_p.I281M NM_000050 NP_000041 P00966 ASSY_HUMAN argininosuccinate synthetase 1 281 arginine biosynthetic process|urea cycle cytosol argininosuccinate synthase activity|ATP binding|protein binding ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(145;0.000514) Adenosine triphosphate(DB00171)|L-Arginine(DB00125)|L-Aspartic Acid(DB00128)|L-Citrulline(DB00155) GGCTAGGTATCTACGAGACCC 0.448 NA 42 87 0 0 0.003214 0 0 LAMC3 10319 broad.mit.edu 37 9 133932444 133932444 + Nonsense_Mutation SNP G G T TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr9:133932444G>T uc004caa.1 + 12 2166 c.2068G>T c.(2068-2070)GGA>TGA p.G690* NM_006059 NP_006050 Q9Y6N6 LAMC3_HUMAN laminin, gamma 3 precursor 690 Laminin EGF-like 5; second part. 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) CTGTGCTCCGGGATACAAGAG 0.617 NA 68 158 2.32817e-41 4.50773e-41 0.00361 1 0 SEC16A 9919 broad.mit.edu 37 9 139371251 139371251 + Missense_Mutation SNP C C A TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr9:139371251C>A uc004chx.2 - 3 1126 c.817G>T c.(817-819)GCA>TCA p.A273S SEC16A_uc004chv.3_5'Flank|SEC16A_uc004chw.2_Missense_Mutation_p.A273S|SEC16A_uc010nbn.2_Missense_Mutation_p.A273S|SEC16A_uc010nbo.1_Missense_Mutation_p.A273S NM_014866 NP_055681 O15027 SC16A_HUMAN SEC16 homolog A 95 protein transport|vesicle-mediated transport endoplasmic reticulum membrane|Golgi membrane 0 Myeloproliferative disorder(178;0.0511) Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06) GGCAAGGCTGCTGGGGGAGCC 0.587 NA 9 26 2.17888e-05 2.45799e-05 0.006214 1 0 IL3RA 3563 broad.mit.edu 37 X 1460672 1460672 + Missense_Mutation SNP G G T TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chrX:1460672G>T uc004cps.2 + 2 363 c.14G>T c.(13-15)TGG>TTG p.W5L IL3RA_uc011mhd.1_Missense_Mutation_p.W5L NM_002183 NP_002174 P26951 IL3RA_HUMAN interleukin 3 receptor, alpha precursor 5 integral to membrane|plasma membrane interleukin-3 receptor activity skin(2)|lung(1) 3 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) Sargramostim(DB00020) GTCCTCCTTTGGCTCACGCTG 0.607 NA 28 101 5.61819e-17 8.49731e-17 0.005443 1 0 ASMTL 8623 broad.mit.edu 37 X 1561078 1561078 + Splice_Site SNP C C A TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chrX:1561078C>A uc004cpx.1 - 2 336 c.225_splice c.e2+1 p.Q75_splice ASMTL_uc011mhe.1_Splice_Site_p.R21_splice|ASMTL_uc004cpy.1_Splice_Site_p.Q75_splice|ASMTL_uc011mhf.1_Splice_Site_p.Q17_splice NM_004192 NP_004183 O95671 ASML_HUMAN acetylserotonin O-methyltransferase-like melatonin biosynthetic process cytoplasm acetylserotonin O-methyltransferase activity 0 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) GGGCCCCTTGCCTGGTACAGC 0.527 NA 47 157 5.57489e-27 9.63257e-27 0.00361 1 0 ARSF 416 broad.mit.edu 37 X 2990067 2990067 + Missense_Mutation SNP G G T TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chrX:2990067G>T uc004cre.1 + 3 233 c.12G>T c.(10-12)AGG>AGT p.R4S ARSF_uc004crf.1_Missense_Mutation_p.R4S NM_004042 NP_004033 P54793 ARSF_HUMAN arylsulfatase F precursor 4 extracellular region arylsulfatase activity|metal ion binding ovary(2) 2 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) TGCTTTCCAGGAGACCCTTGG 0.493 NA 21 41 7.45023e-12 1.03244e-11 0.010504 1 0 ARHGAP6 395 broad.mit.edu 37 X 11196361 11196361 + Silent SNP C C T TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chrX:11196361C>T uc004cup.1 - 8 2361 c.1488G>A c.(1486-1488)GAG>GAA p.E496E ARHGAP6_uc004cuo.1_RNA|ARHGAP6_uc004cur.1_Silent_p.E496E|ARHGAP6_uc004cum.1_Silent_p.E293E|ARHGAP6_uc004cun.1_Silent_p.E316E|ARHGAP6_uc010neb.1_Silent_p.E318E|ARHGAP6_uc011mif.1_Silent_p.E293E NM_013427 NP_038286 O43182 RHG06_HUMAN Rho GTPase activating protein 6 isoform 1 496 Rho-GAP. actin filament polymerization|activation of phospholipase C activity|negative regulation of focal adhesion assembly|negative regulation of stress fiber assembly|Rho protein signal transduction actin filament|cytosol phospholipase activator activity|phospholipase binding|Rho GTPase activator activity|SH3 domain binding|SH3/SH2 adaptor activity urinary_tract(1)|lung(1) 2 GTTCCTCCGGCTCCAACACTA 0.522 NA 5 8 0 0 0.001168 0 0 ACE2 59272 broad.mit.edu 37 X 15607507 15607507 + Missense_Mutation SNP C C G TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chrX:15607507C>G uc004cxa.1 - 5 824 c.656G>C c.(655-657)CGC>CCC p.R219P ACE2_uc004cxb.2_Missense_Mutation_p.R219P NM_021804 NP_068576 Q9BYF1 ACE2_HUMAN angiotensin I converting enzyme 2 precursor 219 Extracellular (Potential). R->D: No effect on interaction with SARS- CoV spike glycoprotein. angiotensin-mediated drinking behavior|proteolysis|receptor biosynthetic process|regulation of cell proliferation|virion attachment, binding of host cell surface receptor cell surface|extracellular space|integral to membrane|membrane raft|plasma membrane carboxypeptidase activity|glycoprotein binding|metallopeptidase activity|peptidyl-dipeptidase activity|viral receptor activity|zinc ion binding ovary(3) 3 Hepatocellular(33;0.183) Moexipril(DB00691) CAACTGGCCGCGGCTGTAGTC 0.423 NA 47 183 0 0 0.00361 0 0 OTUD6A 139562 broad.mit.edu 37 X 69282458 69282458 + Missense_Mutation SNP C C G TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chrX:69282458C>G uc004dxu.1 + 1 118 c.84C>G c.(82-84)AGC>AGG p.S28R NM_207320 NP_997203 Q7L8S5 OTU6A_HUMAN OTU domain containing 6A 28 lung(1)|skin(1) 2 AGATCCGGAGCTTAAAAAACT 0.582 NA 14 14 0 0 0.001855 0 0 GUCY2F 2986 broad.mit.edu 37 X 108638599 108638599 + Silent SNP G G T TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chrX:108638599G>T uc004eod.3 - 12 2671 c.2395C>A c.(2395-2397)CGA>AGA p.R799R GUCY2F_uc011msq.1_RNA NM_001522 NP_001513 P51841 GUC2F_HUMAN guanylate cyclase 2F precursor 799 Protein kinase.|Cytoplasmic (Potential). intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception integral to plasma membrane|nuclear outer membrane ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity lung(4)|breast(3)|central_nervous_system(1) 8 AAAGTTGGTCGTTGTTCTGCA 0.502 NA 134 129 1.08021e-59 2.20072e-59 0.00361 1 0 GUCY2F 2986 broad.mit.edu 37 X 108652325 108652325 + Missense_Mutation SNP C C A TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chrX:108652325C>A uc004eod.3 - 9 2140 c.1864G>T c.(1864-1866)GTG>TTG p.V622L GUCY2F_uc011msq.1_RNA NM_001522 NP_001513 P51841 GUC2F_HUMAN guanylate cyclase 2F precursor 622 Protein kinase.|Cytoplasmic (Potential). intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception integral to plasma membrane|nuclear outer membrane ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity lung(4)|breast(3)|central_nervous_system(1) 8 AATTCTGTCACAATGGCAAAC 0.408 NA 100 114 2.48941e-46 4.94261e-46 0.00361 1 0 ZCCHC16 340595 broad.mit.edu 37 X 111698533 111698533 + Missense_Mutation SNP C C A TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chrX:111698533C>A uc004epo.1 + 3 1018 c.577C>A c.(577-579)CAG>AAG p.Q193K NM_001004308 NP_001004308 Q6ZR62 ZCH16_HUMAN zinc finger, CCHC domain containing 16 193 nucleic acid binding|zinc ion binding ovary(1) 1 TGATCCCAACCAGGATGAAGA 0.473 NA 90 97 5.66823e-36 1.07088e-35 0.00361 1 0 ODZ1 10178 broad.mit.edu 37 X 123870955 123870955 + Missense_Mutation SNP G G T TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chrX:123870955G>T uc004euj.2 - 4 692 c.628C>A c.(628-630)CCC>ACC p.P210T ODZ1_uc011muj.1_Missense_Mutation_p.P210T|ODZ1_uc010nqy.2_Missense_Mutation_p.P210T NM_014253 NP_055068 Q9UKZ4 TEN1_HUMAN odz, odd Oz/ten-m homolog 1 isoform 3 210 Teneurin N-terminal.|Cytoplasmic (Potential). immune response|negative regulation of cell proliferation|nervous system development|signal transduction extracellular region heparin binding ovary(11)|breast(4)|large_intestine(2)|skin(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1) 23 GCTGCAGGGGGTGGCTTCCTG 0.622 NA 86 102 7.68447e-34 1.42228e-33 0.00361 1 0 SAGE1 55511 broad.mit.edu 37 X 134992580 134992580 + Missense_Mutation SNP C C A TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chrX:134992580C>A uc004ezh.2 + 16 2038 c.1871C>A c.(1870-1872)GCA>GAA p.A624E SAGE1_uc010nry.1_Missense_Mutation_p.A593E|SAGE1_uc011mvv.1_Missense_Mutation_p.A248E NM_018666 NP_061136 Q9NXZ1 SAGE1_HUMAN sarcoma antigen 1 624 ovary(2)|skin(1) 3 Acute lymphoblastic leukemia(192;0.000127) CCAGATGCTGCAGTCACTCAC 0.468 NA 71 76 1.79293e-35 3.37566e-35 0.00361 1 0 GPR112 139378 broad.mit.edu 37 X 135431732 135431732 + Missense_Mutation SNP C C T TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chrX:135431732C>T uc004ezu.1 + 6 6158 c.5867C>T c.(5866-5868)TCA>TTA p.S1956L GPR112_uc010nsb.1_Missense_Mutation_p.S1751L|GPR112_uc010nsc.1_Missense_Mutation_p.S1723L NM_153834 NP_722576 Q8IZF6 GP112_HUMAN G-protein coupled receptor 112 1956 Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity ovary(5)|large_intestine(2)|skin(2)|lung(1)|breast(1)|pancreas(1) 12 Acute lymphoblastic leukemia(192;0.000127) GAGAACCCTTCATTATCAACA 0.428 NA 72 94 0 0 0.00361 0 0 CD40LG 959 broad.mit.edu 37 X 135741330 135741330 + Missense_Mutation SNP G G T rs11575982 byFrequency TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chrX:135741330G>T uc004faa.2 + 5 614 c.542G>T c.(541-543)CGG>CTG p.R181L CD40LG_uc010nsd.2_Missense_Mutation_p.R160L NM_000074 NP_000065 P29965 CD40L_HUMAN CD40 ligand 181 Extracellular (Potential). anti-apoptosis|B cell proliferation|inflammatory response|isotype switching|leukocyte cell-cell adhesion|platelet activation|positive regulation of endothelial cell apoptosis|positive regulation of interleukin-12 production extracellular space|integral to plasma membrane|soluble fraction CD40 receptor binding|cytokine activity|tumor necrosis factor receptor binding skin(1) 1 Acute lymphoblastic leukemia(192;0.000127) Atorvastatin(DB01076) TGTTCCAATCGGGAAGCTTCG 0.463 NA Immune_Deficiency_with_Hyper-IgM 273 301 3.05441e-135 6.38969e-135 0.00361 1 0 MAGEC1 9947 broad.mit.edu 37 X 140995244 140995244 + Missense_Mutation SNP G G A TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chrX:140995244G>A uc004fbt.2 + 4 2340 c.2054G>A c.(2053-2055)GGG>GAG p.G685E MAGEC1_uc010nsl.1_Intron NM_005462 NP_005453 O60732 MAGC1_HUMAN melanoma antigen family C, 1 685 protein binding ovary(1)|kidney(1)|central_nervous_system(1)|skin(1) 4 Acute lymphoblastic leukemia(192;6.56e-05) GCTCCTGAGGGGGAGGATTCC 0.577 NA HNSCC(15;0.026) 159 132 0 0 0.00361 0 0 HAUS7 55559 broad.mit.edu 37 X 152721086 152721086 + Missense_Mutation SNP C C G TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chrX:152721086C>G uc004fho.1 - 8 1432 c.874G>C c.(874-876)GAG>CAG p.E292Q HAUS7_uc004fhl.2_RNA|HAUS7_uc004fhm.2_RNA|HAUS7_uc004fhn.1_Missense_Mutation_p.E292Q|HAUS7_uc004fhp.1_RNA NM_017518 NP_059988 Q99871 HAUS7_HUMAN HAUS augmin-like complex subunit 7 292 cell division|centrosome organization|mitosis|spindle assembly centrosome|HAUS complex|microtubule|nucleolus|plasma membrane|spindle thioesterase binding 0 TGGCAGCACTCGCCCAGCTCG 0.602 NA 48 42 0 0 0.00361 0 0 ASB17 127247 broad.mit.edu 37 1 76384701 76384701 + Frame_Shift_Del DEL G G - TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr1:76384701delG uc001dhe.1 - 3 964 c.824delC c.(823-825)CCAfs p.P275fs ASB17_uc001dhf.1_RNA NM_080868 NP_543144 Q8WXJ9 ASB17_HUMAN ankyrin repeat and SOCS box-containing 17 275 SOCS box. intracellular signal transduction ovary(1) 1 TATTCCATCTGGGAGCATATT 0.338 NA 17 144 --- --- --- --- NA NA NA NA NA COL11A1 1301 broad.mit.edu 37 1 103404607 103404607 + Frame_Shift_Del DEL C C - TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr1:103404607delC uc001dul.2 - 44 3740 c.3422delG c.(3421-3423)GGTfs p.G1141fs COL11A1_uc001duk.2_Frame_Shift_Del_p.G337fs|COL11A1_uc001dum.2_Frame_Shift_Del_p.G1153fs|COL11A1_uc001dun.2_Frame_Shift_Del_p.G1102fs|COL11A1_uc009weh.2_Frame_Shift_Del_p.G1025fs NM_001854 NP_001845 P12107 COBA1_HUMAN alpha 1 type XI collagen isoform A 1141 Triple-helical region. collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1) 12 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) TCCCTTGTCACCCTTGCTGCC 0.338 NA 20 205 --- --- --- --- NA NA NA NA NA ATP1A2 477 broad.mit.edu 37 1 160085661 160085662 + Frame_Shift_Del DEL GG GG - TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 GG GG - - GG GG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr1:160085661_160085662delGG uc001fvc.2 + 1 142_143 c.10_11delGG c.(10-12)GGGfs p.G4fs ATP1A2_uc001fvb.2_Frame_Shift_Del_p.G4fs NM_000702 NP_000693 P50993 AT1A2_HUMAN Na+/K+ -ATPase alpha 2 subunit proprotein 4 ATP biosynthetic process ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity central_nervous_system(3)|ovary(2)|skin(2) 7 all_cancers(52;1.11e-16)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246) GATGGGCCGTGGGGTGAGTATC 0.624 NA 7 18 --- --- --- --- NA NA NA NA NA HMCN1 83872 broad.mit.edu 37 1 185956655 185956656 + Frame_Shift_Ins INS - - C TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr1:185956655_185956656insC uc001grq.1 + 20 3256_3257 c.3027_3028insC c.(3025-3030)AAACCGfs p.K1009fs HMCN1_uc001grr.1_Frame_Shift_Ins_p.K350fs NM_031935 NP_114141 Q96RW7 HMCN1_HUMAN hemicentin 1 precursor 1009_1010 Ig-like C2-type 7. response to stimulus|visual perception basement membrane calcium ion binding ovary(22)|skin(1) 23 GAAATCCCAAACCGTCTGTCAT 0.436 NA 106 173 --- --- --- --- NA NA NA NA NA CCAR1 55749 broad.mit.edu 37 10 70509285 70509286 + Frame_Shift_Del DEL GA GA - TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 GA GA - - GA GA Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr10:70509285_70509286delGA uc001joo.2 + 10 1080_1081 c.961_962delGA c.(961-963)GAGfs p.E321fs CCAR1_uc001jol.1_RNA|CCAR1_uc001jom.1_Frame_Shift_Del_p.E126fs|CCAR1_uc009xpx.1_Frame_Shift_Del_p.E295fs|CCAR1_uc001jon.1_Frame_Shift_Del_p.E267fs|CCAR1_uc010qiz.1_Frame_Shift_Del_p.E306fs|CCAR1_uc010qja.1_Frame_Shift_Del_p.E306fs|CCAR1_uc010qjb.1_RNA NM_018237 NP_060707 Q8IX12 CCAR1_HUMAN cell-cycle and apoptosis regulatory protein 1 321 Arg-rich. apoptosis|cell cycle|nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm|perinuclear region of cytoplasm calcium ion binding|nucleic acid binding|protein binding ovary(6)|large_intestine(1) 7 TTTCAGTCGTGAGAGAGAGAGA 0.391 NA 7 74 --- --- --- --- NA NA NA NA NA GRID1 2894 broad.mit.edu 37 10 87407105 87407105 + Frame_Shift_Del DEL G G - TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr10:87407105delG uc001kdl.1 - 13 2148 c.2047delC c.(2047-2049)CGGfs p.R683fs GRID1_uc009xsu.1_RNA|GRID1_uc010qmf.1_Frame_Shift_Del_p.R254fs|uc001kdm.1_RNA NM_017551 NP_060021 Q9ULK0 GRID1_HUMAN glutamate receptor, ionotropic, delta 1 683 Extracellular (Potential). cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity ovary(5)|upper_aerodigestive_tract(2)|large_intestine(2)|central_nervous_system(1) 10 L-Glutamic Acid(DB00142) GCAGAATCCCGGACAGTGCCA 0.532 NA Multiple Myeloma(13;0.14) 74 514 --- --- --- --- NA NA NA NA NA CYP2C18 1562 broad.mit.edu 37 10 96480183 96480184 + Frame_Shift_Ins INS - - T TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr10:96480183_96480184insT uc001kjv.3 + 6 1176_1177 c.850_851insT c.(850-852)GTTfs p.V284fs CYP2C18_uc001kjw.3_Frame_Shift_Ins_p.V225fs|CYP2C19_uc009xus.1_Intron|CYP2C19_uc010qny.1_5'UTR NM_000772 NP_000763 P33260 CP2CI_HUMAN cytochrome P450 family 2 subfamily C polypeptide 284 xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding ovary(3)|lung(1)|skin(1) 5 Colorectal(252;0.09) all cancers(201;2.8e-06)|KIRC - Kidney renal clear cell carcinoma(50;0.0646)|Kidney(138;0.0805) TGAATTTACTGTTGAAAGCTTG 0.356 NA 21 51 --- --- --- --- NA NA NA NA NA OR4P4 81300 broad.mit.edu 37 11 55406728 55406728 + Frame_Shift_Del DEL G G - TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr11:55406728delG uc010rij.1 + 1 895 c.895delG c.(895-897)GTGfs p.V299fs NM_001004124 NP_001004124 Q8NGL7 OR4P4_HUMAN olfactory receptor, family 4, subfamily P, 299 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1) 1 CATGAGGAAAGTGTGGTGTTG 0.393 NA 47 71 --- --- --- --- NA NA NA NA NA LRRC32 2615 broad.mit.edu 37 11 76371428 76371429 + Frame_Shift_Ins INS - - G TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr11:76371428_76371429insG uc001oxq.3 - 3 1451_1452 c.1208_1209insC c.(1207-1209)CCAfs p.P403fs LRRC32_uc001oxr.3_Frame_Shift_Ins_p.P403fs|LRRC32_uc010rsf.1_Frame_Shift_Ins_p.P403fs NM_005512 NP_005503 Q14392 LRC32_HUMAN leucine rich repeat containing 32 precursor 403 LRR 14.|Extracellular (Potential). integral to plasma membrane 0 CAAAGGTGTATGGGGGCAGGTC 0.663 NA 8 24 --- --- --- --- NA NA NA NA NA UTP20 27340 broad.mit.edu 37 12 101727153 101727153 + Frame_Shift_Del DEL G G - TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr12:101727153delG uc001tia.1 + 28 3648 c.3492delG c.(3490-3492)TTGfs p.L1164fs NM_014503 NP_055318 O75691 UTP20_HUMAN down-regulated in metastasis 1164 endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation 90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome protein binding ovary(2)|breast(2) 4 ATATCTTTTTGGACTGGGAAT 0.348 NA 54 129 --- --- --- --- NA NA NA NA NA ALDH1A2 8854 broad.mit.edu 37 15 58256170 58256177 + Frame_Shift_Del DEL ATAGATGG ATAGATGG - TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 ATAGATGG ATAGATGG - - ATAGATGG ATAGATGG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr15:58256170_58256177delATAGATGG uc002aex.2 - 9 1050_1057 c.992_999delCCATCTAT c.(991-999)TCCATCTATfs p.S331fs ALDH1A2_uc002aey.2_Frame_Shift_Del_p.S293fs|ALDH1A2_uc010ugv.1_Frame_Shift_Del_p.S310fs|ALDH1A2_uc010ugw.1_Frame_Shift_Del_p.S302fs|ALDH1A2_uc002aew.2_Frame_Shift_Del_p.S235fs NM_003888 NP_003879 O94788 AL1A2_HUMAN aldehyde dehydrogenase 1A2 isoform 1 331_333 negative regulation of cell proliferation|neural tube development|response to cytokine stimulus nucleus 3-chloroallyl aldehyde dehydrogenase activity|retinal binding|retinal dehydrogenase activity central_nervous_system(1) 1 GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18) NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162) CAAACTCCTCATAGATGGACTCCTCCAC 0.562 NA 20 94 --- --- --- --- NA NA NA NA NA ZG16B 124220 broad.mit.edu 37 16 2882139 2882139 + Frame_Shift_Del DEL A A - TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr16:2882139delA uc002cru.2 + 4 682 c.606delA c.(604-606)GCAfs p.A202fs NM_145252 NP_660295 Q96DA0 ZG16B_HUMAN zymogen granule protein 16 homolog B precursor 202 extracellular region sugar binding ovary(1) 1 CATACTCAGCAAACTCACCCG 0.552 NA 122 114 --- --- --- --- NA NA NA NA NA MEFV 4210 broad.mit.edu 37 16 3293233 3293233 + Frame_Shift_Del DEL G G - TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr16:3293233delG uc002cun.1 - 10 2294 c.2254delC c.(2254-2256)CTTfs p.L752fs NM_000243 NP_000234 O15553 MEFV_HUMAN Mediterranean fever protein 752 B30.2/SPRY. inflammatory response cytoplasm|microtubule|microtubule associated complex|nucleus actin binding|zinc ion binding central_nervous_system(2)|skin(2)|ovary(1)|lung(1) 6 Colchicine(DB01394) ATAGGTTGAAGGGGCCCAGAG 0.532 NA 94 85 --- --- --- --- NA NA NA NA NA ZNF423 23090 broad.mit.edu 37 16 49669923 49669923 + Frame_Shift_Del DEL G G - rs111229124 byFrequency TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr16:49669923delG uc002efs.2 - 5 3438 c.3140delC c.(3139-3141)GCGfs p.A1047fs ZNF423_uc010vgn.1_Frame_Shift_Del_p.A930fs NM_015069 NP_055884 Q2M1K9 ZN423_HUMAN zinc finger protein 423 1047 cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding ovary(1)|lung(1)|kidney(1)|pancreas(1) 4 all_cancers(37;0.0155) TGAGCTGCCCGCCAGCTTCTG 0.617 NA 8 60 --- --- --- --- NA NA NA NA NA SMARCD2 6603 broad.mit.edu 37 17 61914346 61914346 + Frame_Shift_Del DEL T T - TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr17:61914346delT uc010deb.1 - 4 820 c.503delA c.(502-504)AAGfs p.K168fs SMARCD2_uc010wpt.1_Frame_Shift_Del_p.K120fs|SMARCD2_uc010dea.1_Frame_Shift_Del_p.K93fs|SMARCD2_uc010dec.1_Frame_Shift_Del_p.K147fs NM_001098426 NP_001091896 Q92925 SMRD2_HUMAN SWI/SNF-related matrix-associated 168 chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent SWI/SNF complex protein binding|transcription coactivator activity 0 CTGGTCCAGCTTCCGCTCAAA 0.547 NA 10 165 --- --- --- --- NA NA NA NA NA MYO5B 4645 broad.mit.edu 37 18 47463659 47463659 + Frame_Shift_Del DEL T T - TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr18:47463659delT uc002leb.2 - 15 2149 c.1861delA c.(1861-1863)ATGfs p.M621fs MYO5B_uc002lec.1_Frame_Shift_Del_p.M620fs NM_001080467 NP_001073936 Q9ULV0 MYO5B_HUMAN myosin VB 621 Myosin head-like. protein transport myosin complex actin binding|ATP binding|calmodulin binding|motor activity ovary(2)|skin(2)|central_nervous_system(1) 5 READ - Rectum adenocarcinoma(32;0.103) GAGACTTTCATGGGGGGTCTG 0.572 NA 23 236 --- --- --- --- NA NA NA NA NA ZNF91 7644 broad.mit.edu 37 19 23543836 23543837 + Frame_Shift_Del DEL TA TA - TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 TA TA - - TA TA Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr19:23543836_23543837delTA uc002nre.2 - 4 2057_2058 c.1944_1945delTA c.(1942-1947)CATAAGfs p.H648fs ZNF91_uc002nrd.2_5'Flank|ZNF91_uc010xrj.1_Frame_Shift_Del_p.H616fs NM_003430 NP_003421 Q05481 ZNF91_HUMAN zinc finger protein 91 648_649 C2H2-type 18. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611) TGAATTCTCTTATGTTTAGCAA 0.386 NA 11 139 --- --- --- --- NA NA NA NA NA KIRREL2 84063 broad.mit.edu 37 19 36349458 36349458 + Frame_Shift_Del DEL G G - TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr19:36349458delG uc002ocb.3 + 3 572 c.360delG c.(358-360)CTGfs p.L120fs KIRREL2_uc002obz.3_Frame_Shift_Del_p.L120fs|KIRREL2_uc002oca.3_Frame_Shift_Del_p.L70fs|KIRREL2_uc002occ.3_Frame_Shift_Del_p.L67fs|KIRREL2_uc002ocd.3_Frame_Shift_Del_p.L117fs NM_199180 NP_954649 Q6UWL6 KIRR2_HUMAN kin of IRRE-like 2 isoform c 120 Extracellular (Potential). cell adhesion integral to membrane|plasma membrane ovary(1)|central_nervous_system(1)|skin(1) 3 all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) TGCACGTGCTGGGTAAGGACC 0.602 NA 42 84 --- --- --- --- NA NA NA NA NA PAK7 57144 broad.mit.edu 37 20 9546606 9546606 + Frame_Shift_Del DEL C C - TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr20:9546606delC uc002wnl.2 - 6 1961 c.1416delG c.(1414-1416)GGGfs p.G472fs PAK7_uc002wnk.2_Frame_Shift_Del_p.G472fs|PAK7_uc002wnj.2_Frame_Shift_Del_p.G472fs|PAK7_uc010gby.1_Frame_Shift_Del_p.G472fs NM_020341 NP_065074 Q9P286 PAK7_HUMAN p21-activated kinase 7 472 Protein kinase. ATP binding|protein binding|protein serine/threonine kinase activity lung(11)|skin(5)|central_nervous_system(3)|ovary(2)|large_intestine(1)|stomach(1) 23 COAD - Colon adenocarcinoma(9;0.194) CAACTTGTTTCCCTGTGTGTT 0.498 NA 111 237 --- --- --- --- NA NA NA NA NA SMARCC1 6599 broad.mit.edu 37 3 47632266 47632266 + Frame_Shift_Del DEL G G - TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr3:47632266delG uc003crq.2 - 27 3223 c.3105delC c.(3103-3105)CCCfs p.P1035fs SMARCC1_uc011bbc.1_RNA|SMARCC1_uc011bbd.1_Frame_Shift_Del_p.P926fs NM_003074 NP_003065 Q92922 SMRC1_HUMAN SWI/SNF-related matrix-associated 1035 Pro-rich. chromatin remodeling|nervous system development|transcription, DNA-dependent nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex|WINAC complex DNA binding|protein N-terminus binding|transcription coactivator activity skin(2)|lung(1) 3 BRCA - Breast invasive adenocarcinoma(193;7.47e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01) CTGCAACAGTGGGAATCATGC 0.567 NA 18 109 --- --- --- --- NA NA NA NA NA PCDHGA5 56110 broad.mit.edu 37 5 140745002 140745002 + Frame_Shift_Del DEL T T - TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr5:140745002delT uc003lju.1 + 1 1105 c.1105delT c.(1105-1107)TTTfs p.F369fs PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc011das.1_Frame_Shift_Del_p.F369fs NM_018918 NP_061741 Q9Y5G8 PCDG5_HUMAN protocadherin gamma subfamily A, 5 isoform 1 369 Cadherin 4.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(4) 4 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AATCGCGCTGTTTAGCGTACA 0.443 NA 21 68 --- --- --- --- NA NA NA NA NA RXRB 6257 broad.mit.edu 37 6 33164224 33164224 + Frame_Shift_Del DEL C C - TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr6:33164224delC uc003odb.2 - 5 1159 c.980delG c.(979-981)GGTfs p.G327fs RXRB_uc003odc.2_Frame_Shift_Del_p.G327fs|RXRB_uc003odd.2_Frame_Shift_Del_p.G231fs|RXRB_uc011dqr.1_Frame_Shift_Del_p.G137fs|RXRB_uc011dqs.1_Frame_Shift_Del_p.G210fs|RXRB_uc003ode.1_Frame_Shift_Del_p.G191fs|RXRB_uc011dqt.1_Frame_Shift_Del_p.G327fs|RXRB_uc011dqu.1_Frame_Shift_Del_p.G231fs NM_021976 NP_068811 P28702 RXRB_HUMAN retinoid X receptor, beta 327 Hinge. regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm ligand-regulated transcription factor activity|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding ovary(3) 3 Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755) GCTGCCGCTACCCCCGGTTCC 0.622 NA 75 350 --- --- --- --- NA NA NA NA NA EEF1A1 1915 broad.mit.edu 37 6 74229134 74229136 + In_Frame_Del DEL TGC TGC - TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 TGC TGC - - TGC TGC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chr6:74229134_74229136delTGC uc003phi.2 - 2 285_287 c.248_250delGCA c.(247-252)AGCAAG>AAG p.S83del EEF1A1_uc003phd.2_5'Flank|EEF1A1_uc003phe.2_In_Frame_Del_p.S83del|EEF1A1_uc003phf.2_In_Frame_Del_p.S83del|EEF1A1_uc003phg.2_In_Frame_Del_p.S83del|EEF1A1_uc003phh.2_Intron|EEF1A1_uc003phj.2_In_Frame_Del_p.S83del|EEF1A1_uc003phk.2_In_Frame_Del_p.S83del|EEF1A1_uc003phl.2_In_Frame_Del_p.S83del|EEF1A1_uc003phm.1_Intron NM_001402 NP_001393 P68104 EF1A1_HUMAN eukaryotic translation elongation factor 1 alpha 83 S -> A (in Ref. 6; CAA27325). cytosol|eukaryotic translation elongation factor 1 complex GTP binding|GTPase activity|protein binding|translation elongation factor activity 0 ACATAGTACTTGCTGGTCTCAAA 0.429 NA OREG0003890 type=REGULATORY REGION|Gene=LOC477388|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 22 121 --- --- --- --- NA NA NA NA NA MAGEB1 4112 broad.mit.edu 37 X 30269510 30269510 + Frame_Shift_Del DEL C C - TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chrX:30269510delC uc004dcc.2 + 4 1220 c.900delC c.(898-900)TTCfs p.F300fs MAGEB1_uc004dcd.2_Frame_Shift_Del_p.F300fs|MAGEB1_uc004dce.2_Frame_Shift_Del_p.F300fs NM_002363 NP_002354 P43366 MAGB1_HUMAN melanoma antigen family B, 1 300 MAGE. 0 CCCGTGACTTCCCATCCCATT 0.512 NA 17 99 --- --- --- --- NA NA NA NA NA KIAA1210 57481 broad.mit.edu 37 X 118222495 118222496 + Frame_Shift_Ins INS - - A TCGA-44-2659-01A-01D-0969-08 TCGA-44-2659-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 08e36a23-6c3a-4e68-823f-8dc728d37aeb c5442deb-cf98-478d-9c0b-d117b1e8094e g.chrX:118222495_118222496insA uc004era.3 - 11 2697_2698 c.2697_2698insT c.(2695-2700)CCTGAAfs p.P899fs NM_020721 NP_065772 Q9ULL0 K1210_HUMAN hypothetical protein LOC57481 899_900 ovary(4)|skin(1) 5 TTCTGCTCTTCAGGAGTATTAT 0.505 NA 28 35 --- --- --- --- NA NA NA NA NA