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 DLGAP3 58512 broad.mit.edu 37 1 35369906 35369906 + Missense_Mutation SNP G G A TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01D-1489-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 2e4532d8-cebf-4bdf-95d0-5c02f94d186e g.chr1:35369906G>A uc001byc.2 - 1 1079 c.1079C>T c.(1078-1080)GCC>GTC p.A360V NM_001080418 NP_001073887 O95886 DLGP3_HUMAN discs, large (Drosophila) homolog-associated 360 cell-cell signaling cell junction|postsynaptic density|postsynaptic membrane ovary(3) 3 Myeloproliferative disorder(586;0.0393) CCTGGCTTTGGCCTTGGTCTC 0.592 NA 71 154 0 0 0.01441 0 0 C1orf173 127254 broad.mit.edu 37 1 75038095 75038095 + Missense_Mutation SNP G G T TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01D-1489-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 2e4532d8-cebf-4bdf-95d0-5c02f94d186e g.chr1:75038095G>T uc001dgg.2 - 14 3518 c.3299C>A c.(3298-3300)GCG>GAG p.A1100E NM_001002912 NP_001002912 Q5RHP9 CA173_HUMAN hypothetical protein LOC127254 1100 Glu-rich. ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1) 5 CCCTTCTTCCGCTTTAAGTTT 0.443 NA 61 154 2.22609e-26 3.47269e-26 0.01441 1 0 LPPR4 9890 broad.mit.edu 37 1 99772407 99772407 + Missense_Mutation SNP C C A TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01D-1489-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 2e4532d8-cebf-4bdf-95d0-5c02f94d186e g.chr1:99772407C>A uc001dse.2 + 7 2239 c.2133C>A c.(2131-2133)AGC>AGA p.S711R LPPR4_uc010oue.1_Missense_Mutation_p.S653R NM_014839 NP_055654 Q7Z2D5 LPPR4_HUMAN plasticity related gene 1 711 phosphatidate phosphatase activity ovary(3) 3 all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202) Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22) TAGAGGGCAGCGAAATTGGCT 0.522 NA 16 38 6.72482e-11 8.96643e-11 0.003163 1 0 MOV10 4343 broad.mit.edu 37 1 113217566 113217566 + Missense_Mutation SNP G G T TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01D-1489-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 2e4532d8-cebf-4bdf-95d0-5c02f94d186e g.chr1:113217566G>T uc001eck.2 + 2 302 c.32G>T c.(31-33)CGG>CTG p.R11L MOV10_uc001ecl.2_Missense_Mutation_p.R11L|MOV10_uc001ecn.2_Missense_Mutation_p.R11L|MOV10_uc001ecm.2_5'UTR|MOV10_uc009wgj.1_5'UTR NM_001130079 NP_001123551 Q9HCE1 MOV10_HUMAN Mov10, Moloney leukemia virus 10, homolog 11 mRNA cleavage involved in gene silencing by miRNA|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic mRNA processing body ATP binding|helicase activity|protein binding|RNA binding ovary(4)|skin(1) 5 Lung SC(450;0.246) all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114) OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24) CGGCAGCTCCGGGAGGCGGGC 0.632 NA 39 75 6.4685e-43 1.04029e-42 0.01441 1 0 SPAG17 200162 broad.mit.edu 37 1 118554977 118554977 + Missense_Mutation SNP C C A TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01D-1489-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 2e4532d8-cebf-4bdf-95d0-5c02f94d186e g.chr1:118554977C>A uc001ehk.2 - 30 4374 c.4306G>T c.(4306-4308)GAC>TAC p.D1436Y NM_206996 NP_996879 Q6Q759 SPG17_HUMAN sperm associated antigen 17 1436 cilium|flagellar axoneme|microtubule upper_aerodigestive_tract(2)|ovary(2)|large_intestine(1)|skin(1) 6 Esophageal squamous(2;0.0106) all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01) Lung(183;0.0858) ACAACTTTGTCTTCTCGAGTT 0.378 NA 23 57 6.44725e-10 8.38143e-10 0.014323 1 0 RPTN 126638 broad.mit.edu 37 1 152128367 152128367 + Missense_Mutation SNP T T A TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01D-1489-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 2e4532d8-cebf-4bdf-95d0-5c02f94d186e g.chr1:152128367T>A uc001ezs.1 - 3 1273 c.1208A>T c.(1207-1209)TAT>TTT p.Y403F NM_001122965 NP_001116437 Q6XPR3 RPTN_HUMAN repetin 403 Gln-rich. proteinaceous extracellular matrix calcium ion binding 0 TGTCTGACCATAGTGAGAACT 0.507 NA 315 631 0 0 0.01441 0 0 SPTA1 6708 broad.mit.edu 37 1 158627290 158627290 + Missense_Mutation SNP C C T TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01D-1489-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 2e4532d8-cebf-4bdf-95d0-5c02f94d186e g.chr1:158627290C>T uc001fst.1 - 19 2981 c.2782G>A c.(2782-2784)GGT>AGT p.G928S NM_003126 NP_003117 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 928 Spectrin 10. 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) TCATCAGCACCATAGTTAGTA 0.438 NA 28 53 0 0 0.005443 0 0 IGSF8 93185 broad.mit.edu 37 1 160061677 160061677 + Missense_Mutation SNP A A T TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01D-1489-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 2e4532d8-cebf-4bdf-95d0-5c02f94d186e g.chr1:160061677A>T uc001fva.2 - 6 1823 c.1778T>A c.(1777-1779)GTC>GAC p.V593D IGSF8_uc001fuz.2_Missense_Mutation_p.V593D|IGSF8_uc009wtf.2_Missense_Mutation_p.V593D NM_052868 NP_443100 Q969P0 IGSF8_HUMAN immunoglobulin superfamily, member 8 593 Helical; (Potential). cell proliferation|cellular component movement|nervous system development|single fertilization|skeletal muscle tissue development integral to membrane protein binding 0 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) GGCACCAGTGACTAGGGCCAC 0.567 NA 59 135 0 0 0.01441 0 0 ASTN1 460 broad.mit.edu 37 1 176857323 176857323 + Silent SNP G G T TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01D-1489-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 2e4532d8-cebf-4bdf-95d0-5c02f94d186e g.chr1:176857323G>T uc001glc.2 - 18 3170 c.2958C>A c.(2956-2958)ACC>ACA p.T986T ASTN1_uc001glb.1_Silent_p.T986T|ASTN1_uc001gld.1_Silent_p.T986T NM_004319 NP_004310 O14525 ASTN1_HUMAN astrotactin isoform 1 994 cell migration|neuron cell-cell adhesion integral to membrane ovary(6)|skin(5)|central_nervous_system(2)|large_intestine(1)|lung(1) 15 GAGAGCTCATGGTAGCCTCCT 0.537 NA 27 69 2.49675e-24 3.85636e-24 0.007291 1 0 HSD11B1 3290 broad.mit.edu 37 1 209878375 209878376 + Splice_Site DNP GG GG TT TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01D-1489-08 GG GG - - GG GG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 2e4532d8-cebf-4bdf-95d0-5c02f94d186e g.chr1:209878375_209878376GG>TT uc001hhj.2 + 2 195 c.88_splice c.e2+1 p.E30_splice HSD11B1_uc001hhk.2_Splice_Site_p.E30_splice NM_181755 NP_861420 P28845 DHI1_HUMAN 11-beta-hydroxysteroid dehydrogenase 1 glucocorticoid biosynthetic process endoplasmic reticulum membrane|integral to membrane 11-beta-hydroxysteroid dehydrogenase (NADP+) activity|11-beta-hydroxysteroid dehydrogenase|binding breast(1) 1 OV - Ovarian serous cystadenocarcinoma(81;1.04e-55)|Epithelial(68;1.57e-52)|all cancers(67;1.83e-46)|Colorectal(1306;0.115) NADH(DB00157) ATTCAGACCAGGTAAGTACCCA 0.45 NA 28 79 0 0 0.004672 0 0 USH2A 7399 broad.mit.edu 37 1 216074227 216074227 + Missense_Mutation SNP G G A TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01D-1489-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 2e4532d8-cebf-4bdf-95d0-5c02f94d186e g.chr1:216074227G>A uc001hku.1 - 39 7708 c.7321C>T c.(7321-7323)CCC>TCC p.P2441S NM_206933 NP_996816 O75445 USH2A_HUMAN usherin isoform B 2441 Extracellular (Potential).|Fibronectin type-III 11. 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) GAAAGCCTGGGAGGCAGCACG 0.493 NA HNSCC(13;0.011) 19 38 0 0 0.006122 0 0 FMN2 56776 broad.mit.edu 37 1 240371207 240371207 + Missense_Mutation SNP C C T TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01D-1489-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 2e4532d8-cebf-4bdf-95d0-5c02f94d186e g.chr1:240371207C>T uc010pyd.1 + 5 3320 c.3095C>T c.(3094-3096)CCT>CTT p.P1032L FMN2_uc010pye.1_Missense_Mutation_p.P1036L NM_020066 NP_064450 Q9NZ56 FMN2_HUMAN formin 2 1032 Pro-rich.|FH1. actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions actin binding ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1) 12 Ovarian(103;0.127) all_cancers(173;0.013) OV - Ovarian serous cystadenocarcinoma(106;0.0106) GGCATACCCCCTCCGCCCCCA 0.731 NA 3 20 0 0 0.009096 0 0 CDK1 983 broad.mit.edu 37 10 62544479 62544479 + Silent SNP G G C TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01D-1489-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 2e4532d8-cebf-4bdf-95d0-5c02f94d186e g.chr10:62544479G>C uc001jld.2 + 3 188 c.54G>C c.(52-54)GTG>GTC p.V18V CDK1_uc010qii.1_Silent_p.V18V|CDK1_uc001jle.2_RNA|CDK1_uc001jlf.2_Silent_p.V18V|CDK1_uc001jlg.2_Silent_p.V18V NM_001786 NP_001777 P06493 CDK1_HUMAN cell division cycle 2 isoform 1 18 ATP (By similarity).|Protein kinase. activation of MAPK activity|activation of MAPKK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|axon guidance|cell division|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|mitosis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein localization to kinetochore|Ras protein signal transduction|regulation of transcription involved in G1/S phase of mitotic cell cycle|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|midbody|nucleoplasm|spindle microtubule ATP binding|cyclin-dependent protein kinase activity|RNA polymerase II carboxy-terminal domain kinase activity ovary(1) 1 ATGGAGTTGTGTATAAGGGTA 0.338 NA 37 68 0 0 0.015359 0 0 OR51A4 401666 broad.mit.edu 37 11 4967760 4967760 + Missense_Mutation SNP A A T TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01D-1489-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 2e4532d8-cebf-4bdf-95d0-5c02f94d186e g.chr11:4967760A>T uc010qys.1 - 1 571 c.571T>A c.(571-573)TGT>AGT p.C191S NM_001005329 NP_001005329 Q8NGJ6 O51A4_HUMAN olfactory receptor, family 51, subfamily A, 191 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(1) 3 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19) TTGTCAGAACAGGCCAACTTC 0.408 NA 14 51 0 0 0.008871 0 0 OR52J3 119679 broad.mit.edu 37 11 5068314 5068314 + Missense_Mutation SNP G G A TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01D-1489-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 2e4532d8-cebf-4bdf-95d0-5c02f94d186e g.chr11:5068314G>A uc010qyv.1 + 1 559 c.559G>A c.(559-561)GCA>ACA p.A187T NM_001001916 NP_001001916 Q8NH60 O52J3_HUMAN olfactory receptor, family 52, subfamily J, 187 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|lung(1)|skin(1) 3 Medulloblastoma(188;0.00131)|all_neural(188;0.0189)|Breast(177;0.0204) Epithelial(150;9.29e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.19) CATGGGCATTGCAAAATTGTC 0.428 NA 17 56 0 0 0.004007 0 0 TRIM22 10346 broad.mit.edu 37 11 5730700 5730700 + Missense_Mutation SNP C C T TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01D-1489-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 2e4532d8-cebf-4bdf-95d0-5c02f94d186e g.chr11:5730700C>T uc001mbr.2 + 8 1596 c.1319C>T c.(1318-1320)CCC>CTC p.P440L TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.1_Intron|TRIM22_uc009yes.2_Missense_Mutation_p.P436L|TRIM22_uc010qzm.1_Missense_Mutation_p.P268L|TRIM22_uc009yeu.2_Missense_Mutation_p.P251L|OR56B1_uc001mbs.1_Intron|OR56B1_uc009yev.1_Intron NM_006074 NP_006065 Q8IYM9 TRI22_HUMAN tripartite motif-containing 22 440 B30.2/SPRY. immune response|interspecies interaction between organisms|protein trimerization|response to virus Cajal body|Golgi apparatus|nuclear speck ligase activity|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding 0 Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212) Epithelial(150;7.54e-09)|BRCA - Breast invasive adenocarcinoma(625;0.14) GCTGTGCCTCCCTGTCGTATT 0.438 GBM(104;491 2336 5222) NA 68 136 0 0 0.01441 0 0 DNHD1 144132 broad.mit.edu 37 11 6588836 6588836 + Missense_Mutation SNP G G A TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01D-1489-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 2e4532d8-cebf-4bdf-95d0-5c02f94d186e g.chr11:6588836G>A uc001mdw.3 + 36 12661 c.12097G>A c.(12097-12099)GAG>AAG p.E4033K DNHD1_uc001mea.3_Missense_Mutation_p.E302K|DNHD1_uc001meb.2_Missense_Mutation_p.E301K|DNHD1_uc001mec.2_Missense_Mutation_p.E301K|DNHD1_uc010rao.1_Missense_Mutation_p.E291K|DNHD1_uc009yfg.2_5'Flank NM_144666 NP_653267 Q96M86 DNHD1_HUMAN dynein heavy chain domain 1 isoform 1 4033 microtubule-based movement dynein complex microtubule motor activity ovary(2) 2 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171) Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13) GCCAGGGCCTGAGCCACTCAG 0.642 NA 19 34 0 0 0.008871 0 0 CTNND1 1500 broad.mit.edu 37 11 57569381 57569381 + Missense_Mutation SNP G G T TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01D-1489-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 2e4532d8-cebf-4bdf-95d0-5c02f94d186e g.chr11:57569381G>T uc001nmc.3 + 7 1704 c.1133G>T c.(1132-1134)CGC>CTC p.R378L CTNND1_uc001nlh.1_Missense_Mutation_p.R378L|CTNND1_uc001nlu.3_Missense_Mutation_p.R277L|CTNND1_uc001nlt.3_Missense_Mutation_p.R277L|CTNND1_uc001nls.3_Missense_Mutation_p.R277L|CTNND1_uc001nlw.3_Missense_Mutation_p.R277L|CTNND1_uc001nmf.3_Missense_Mutation_p.R378L|CTNND1_uc001nmd.3_Missense_Mutation_p.R324L|CTNND1_uc001nlk.3_Missense_Mutation_p.R324L|CTNND1_uc001nme.3_Missense_Mutation_p.R378L|CTNND1_uc001nll.3_Missense_Mutation_p.R324L|CTNND1_uc001nmg.3_Missense_Mutation_p.R324L|CTNND1_uc001nlj.3_Missense_Mutation_p.R324L|CTNND1_uc001nlr.3_Missense_Mutation_p.R324L|CTNND1_uc001nlp.3_Missense_Mutation_p.R324L|CTNND1_uc001nlx.3_Missense_Mutation_p.R55L|CTNND1_uc001nlz.3_Missense_Mutation_p.R55L|CTNND1_uc009ymn.2_Missense_Mutation_p.R55L|CTNND1_uc001nlm.3_Missense_Mutation_p.R378L|CTNND1_uc001nly.3_Missense_Mutation_p.R55L|CTNND1_uc001nmb.3_Missense_Mutation_p.R55L|CTNND1_uc001nma.3_Missense_Mutation_p.R55L|CTNND1_uc001nmi.3_Missense_Mutation_p.R277L|CTNND1_uc001nmh.3_Missense_Mutation_p.R378L|CTNND1_uc001nlq.3_Missense_Mutation_p.R277L|CTNND1_uc001nln.3_Missense_Mutation_p.R378L|CTNND1_uc001nli.3_Missense_Mutation_p.R378L|CTNND1_uc001nlo.3_Missense_Mutation_p.R277L|CTNND1_uc001nlv.3_Missense_Mutation_p.R277L NM_001085458 NP_001078927 O60716 CTND1_HUMAN catenin, delta 1 isoform 1ABC 378 ARM 1. adherens junction organization|cell junction assembly|negative regulation of canonical Wnt receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway cytosol|midbody|nucleus cadherin binding|protein binding|receptor binding breast(4)|ovary(1)|kidney(1) 6 all_epithelial(135;0.155) CTTGGATTCCGCTTGGATGCT 0.542 NA 41 121 2.35958e-20 3.4726e-20 0.009718 1 0 OR9Q2 219957 broad.mit.edu 37 11 57958720 57958720 + Missense_Mutation SNP G G A TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01D-1489-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 2e4532d8-cebf-4bdf-95d0-5c02f94d186e g.chr11:57958720G>A uc010rka.1 + 1 758 c.758G>A c.(757-759)GGC>GAC p.G253D NM_001005283 NP_001005283 Q8NGE9 OR9Q2_HUMAN olfactory receptor, family 9, subfamily Q, 253 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|breast(1)|central_nervous_system(1) 4 Breast(21;0.0589) CTTTTCTTTGGCACCCTCATC 0.577 NA 59 102 0 0 0.01441 0 0 GLYATL1 92292 broad.mit.edu 37 11 58711127 58711127 + Translation_Start_Site SNP C C A TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01D-1489-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 2e4532d8-cebf-4bdf-95d0-5c02f94d186e g.chr11:58711127C>A uc001nnf.2 + 3 322 c.-54C>A c.(-56--52)GGCTG>GGATG uc001nng.1_Intron|GLYATL1_uc001nnh.1_Missense_Mutation_p.L46M|GLYATL1_uc001nni.1_Translation_Start_Site|GLYATL1_uc001nnj.1_Translation_Start_Site Q969I3 GLYL1_HUMAN SubName: Full=Glycine acyltransferase family-C; SubName: Full=Glycine-N-acyltransferase-like 1, isoform CRA_a; mitochondrion glycine N-acyltransferase activity ovary(1) 1 Glycine(DB00145) ctcagagtggctgaggataat 0 NA 18 28 2.4624e-09 3.09785e-09 0.008871 1 0 INPPL1 3636 broad.mit.edu 37 11 71946219 71946219 + Silent SNP C C T TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01D-1489-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 2e4532d8-cebf-4bdf-95d0-5c02f94d186e g.chr11:71946219C>T uc001osf.2 + 22 2622 c.2475C>T c.(2473-2475)GTC>GTT p.V825V INPPL1_uc001osg.2_Silent_p.V583V NM_001567 NP_001558 O15357 SHIP2_HUMAN inositol polyphosphate phosphatase-like 1 825 actin filament organization|cell adhesion|endocytosis actin cortical patch|cytosol actin binding|SH2 domain binding|SH3 domain binding skin(2)|ovary(1)|breast(1) 4 TGCTCACAGTCAAGTCCATGG 0.557 NA 56 97 0 0 0.01441 0 0 ANKRD42 338699 broad.mit.edu 37 11 82917155 82917155 + Missense_Mutation SNP G G T TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01D-1489-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 2e4532d8-cebf-4bdf-95d0-5c02f94d186e g.chr11:82917155G>T uc001ozz.1 + 3 616 c.194G>T c.(193-195)GGT>GTT p.G65V ANKRD42_uc009yvi.1_Missense_Mutation_p.G93V|ANKRD42_uc010rsv.1_Missense_Mutation_p.G93V|ANKRD42_uc001paa.2_Missense_Mutation_p.G93V|ANKRD42_uc001pab.1_Missense_Mutation_p.G93V NM_182603 NP_872409 Q8N9B4 ANR42_HUMAN ankyrin repeat domain 42 65 ANK 2. skin(1) 1 ACAACGAGAGGTTGGACAGCA 0.378 NA 22 53 2.98393e-07 3.60848e-07 0.016522 1 0 MMP1 4312 broad.mit.edu 37 11 102667829 102667829 + Missense_Mutation SNP G G T TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01D-1489-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 2e4532d8-cebf-4bdf-95d0-5c02f94d186e g.chr11:102667829G>T uc001phi.2 - 3 558 c.415C>A c.(415-417)CAA>AAA p.Q139K uc001phh.1_Intron|MMP1_uc010ruv.1_Missense_Mutation_p.Q73K NM_002421 NP_002412 P03956 MMP1_HUMAN matrix metalloproteinase 1 isoform 1 139 Metalloprotease. blood coagulation|collagen catabolic process|interspecies interaction between organisms|leukocyte migration|proteolysis proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding skin(2)|ovary(1)|lung(1) 4 all_epithelial(12;0.0127) all_neural(303;0.000318)|all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) Epithelial(9;0.072)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.233) OV - Ovarian serous cystadenocarcinoma(223;1.82e-07)|Epithelial(105;1.51e-06)|BRCA - Breast invasive adenocarcinoma(274;0.014) CTCCAGAGTTGGAAGGCTTTC 0.423 NA 50 80 1.08114e-33 1.721e-33 0.01441 1 0 ZBTB16 7704 broad.mit.edu 37 11 114113048 114113048 + Missense_Mutation SNP G G T TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01D-1489-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 2e4532d8-cebf-4bdf-95d0-5c02f94d186e g.chr11:114113048G>T uc001pop.2 + 5 1877 c.1613G>T c.(1612-1614)CGC>CTC p.R538L ZBTB16_uc001poq.2_Missense_Mutation_p.R538L NM_006006 NP_005997 Q05516 ZBT16_HUMAN promyelocytic leukemia zinc finger protein 538 C2H2-type 5. apoptosis|central nervous system development|mesonephros development|myeloid cell differentiation|negative regulation of myeloid cell differentiation|negative regulation of transcription, DNA-dependent nuclear speck|PML body|transcriptional repressor complex protein homodimerization activity|zinc ion binding central_nervous_system(1)|skin(1) 2 all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438) BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018) CGCCACCTGCGCTCACATACA 0.602 NA 15 53 1.9806e-07 2.41385e-07 0.014323 1 0 MFRP 83552 broad.mit.edu 37 11 119217000 119217000 + Missense_Mutation SNP C C T rs143802236 byFrequency TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01D-1489-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 2e4532d8-cebf-4bdf-95d0-5c02f94d186e g.chr11:119217000C>T uc001pwj.2 - 2 299 c.139G>A c.(139-141)GTC>ATC p.V47I MFRP_uc010rzf.1_RNA|MFRP_uc010rzg.1_Missense_Mutation_p.V47I NM_031433 NP_113621 Q9BXJ0 C1QT5_HUMAN membrane frizzled-related protein Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment collagen 0 Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;3.84e-05) GGAGCTGGGACGCTGTAGCTG 0.617 NA 12 34 0 0 0.013537 0 0 TECTA 7007 broad.mit.edu 37 11 120989078 120989078 + Missense_Mutation SNP G G T TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01D-1489-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 2e4532d8-cebf-4bdf-95d0-5c02f94d186e g.chr11:120989078G>T uc010rzo.1 + 6 854 c.854G>T c.(853-855)TGT>TTT p.C285F NM_005422 NP_005413 O75443 TECTA_HUMAN tectorin alpha precursor 285 VWFC. 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) AAGTGCCGCTGTCTGGATTTC 0.473 NA 54 78 3.21867e-24 4.92268e-24 0.01441 1 0 GRAMD1B 57476 broad.mit.edu 37 11 123489404 123489404 + Silent SNP G G T TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01D-1489-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 2e4532d8-cebf-4bdf-95d0-5c02f94d186e g.chr11:123489404G>T uc001pyx.2 + 18 2234 c.1905G>T c.(1903-1905)CTG>CTT p.L635L GRAMD1B_uc001pyw.2_Silent_p.L642L|GRAMD1B_uc010rzw.1_Silent_p.L591L|GRAMD1B_uc010rzx.1_Silent_p.L595L|GRAMD1B_uc001pyy.2_Silent_p.L322L NM_020716 NP_065767 Q3KR37 GRM1B_HUMAN GRAM domain containing 1B 635 Helical; (Potential). integral to membrane ovary(1) 1 Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.32e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0394) TTCCTAGTCTGGTGCTGCTGG 0.547 NA 3 1 0.004672 0.00495804 0.004672 1 0 CACNA1C 775 broad.mit.edu 37 12 2797654 2797654 + Missense_Mutation SNP C C A TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01D-1489-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 2e4532d8-cebf-4bdf-95d0-5c02f94d186e g.chr12:2797654C>A uc009zdu.1 + 49 6388 c.6075C>A c.(6073-6075)AGC>AGA p.S2025R CACNA1C_uc009zdv.1_Missense_Mutation_p.S1939R|CACNA1C_uc001qkb.2_Missense_Mutation_p.S1942R|CACNA1C_uc001qkc.2_Missense_Mutation_p.S1961R|CACNA1C_uc001qke.2_Missense_Mutation_p.S1931R|CACNA1C_uc001qkf.2_Missense_Mutation_p.S1950R|CACNA1C_uc001qjz.2_Missense_Mutation_p.S1942R|CACNA1C_uc001qkd.2_Missense_Mutation_p.S1961R|CACNA1C_uc001qkg.2_Missense_Mutation_p.S1948R|CACNA1C_uc009zdw.1_Missense_Mutation_p.S1983R|CACNA1C_uc001qkh.2_Missense_Mutation_p.S1950R|CACNA1C_uc001qkl.2_Missense_Mutation_p.S1990R|CACNA1C_uc001qkn.2_Missense_Mutation_p.S1942R|CACNA1C_uc001qko.2_Missense_Mutation_p.S1962R|CACNA1C_uc001qkp.2_Missense_Mutation_p.S1942R|CACNA1C_uc001qkr.2_Missense_Mutation_p.S1959R|CACNA1C_uc001qku.2_Missense_Mutation_p.S1977R|CACNA1C_uc001qkq.2_Missense_Mutation_p.S1970R|CACNA1C_uc001qks.2_Missense_Mutation_p.S1942R|CACNA1C_uc001qkt.2_Missense_Mutation_p.S1961R|CACNA1C_uc001qki.1_Missense_Mutation_p.S1749R|CACNA1C_uc001qkj.1_Missense_Mutation_p.S1713R|CACNA1C_uc001qkk.1_Missense_Mutation_p.S1678R|CACNA1C_uc001qkm.1_Missense_Mutation_p.S1738R|CACNA1C_uc010sea.1_Missense_Mutation_p.S633R|uc001qkx.1_Intron|CACNA1C_uc001qky.1_Missense_Mutation_p.S260R NM_199460 NP_955630 Q13936 CAC1C_HUMAN calcium channel, voltage-dependent, L type, 2025 Cytoplasmic (Potential). axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion cytoplasm|postsynaptic density|voltage-gated calcium channel complex calmodulin binding|voltage-gated calcium channel activity ovary(10)|central_nervous_system(1) 11 OV - Ovarian serous cystadenocarcinoma(31;0.00256) LUAD - Lung adenocarcinoma(1;0.134) Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661) TCCAGAGAAGCCATTCCCCTG 0.652 NA 41 85 1.49673e-21 2.2669e-21 0.00623 1 0 KLRC2 3822 broad.mit.edu 37 12 10584778 10584778 + Missense_Mutation SNP A A G TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01D-1489-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 2e4532d8-cebf-4bdf-95d0-5c02f94d186e g.chr12:10584778A>G uc001qyk.2 - 5 518 c.511T>C c.(511-513)TCA>CCA p.S171P KLRC3_uc001qyh.2_Intron|KLRC2_uc010she.1_Missense_Mutation_p.S171P NM_002260 NP_002251 P26717 NKG2C_HUMAN killer cell lectin-like receptor subfamily C, 171 Extracellular (Potential).|C-type lectin. cellular defense response integral to plasma membrane sugar binding|transmembrane receptor activity 0 CCAATCCATGAGGAAGGTAAA 0.299 NA 12 26 0 0 0.016723 0 0 KIAA1467 57613 broad.mit.edu 37 12 13229033 13229033 + Missense_Mutation SNP T T A TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01D-1489-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 2e4532d8-cebf-4bdf-95d0-5c02f94d186e g.chr12:13229033T>A uc001rbi.2 + 11 1621 c.1598T>A c.(1597-1599)CTT>CAT p.L533H KIAA1467_uc009zhx.1_RNA NM_020853 NP_065904 A2RU67 K1467_HUMAN hypothetical protein LOC57613 533 integral to membrane central_nervous_system(2)|skin(1) 3 Prostate(47;0.184) BRCA - Breast invasive adenocarcinoma(232;0.157) CCCTCCATCCTTCTGGATCTG 0.552 NA 58 96 0 0 0.01441 0 0 KRAS 3845 broad.mit.edu 37 12 25398284 25398284 + Missense_Mutation SNP C C A rs121913529 TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01D-1489-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 2e4532d8-cebf-4bdf-95d0-5c02f94d186e g.chr12:25398284C>A uc001rgp.1 - 2 216 c.35G>T c.(34-36)GGT>GTT p.G12V KRAS_uc001rgq.1_Missense_Mutation_p.G12V|KRAS_uc001rgr.2_RNA NM_033360 NP_203524 P01116 RASK_HUMAN c-K-ras2 protein isoform a precursor 12 GTP. G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction plasma membrane GTP binding|GTPase activity|protein binding p.G12D(7175)|p.G12V(4780)|p.G12C(2482)|p.G12A(1180)|p.G12S(1119)|p.G12R(691)|p.G12?(50)|p.G12F(34)|p.G12N(6)|p.G12G(6)|p.G12L(5)|p.G12I(4)|p.G12_G13insG(4)|p.G12E(3)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12fs*3(1) large_intestine(12391)|pancreas(3285)|lung(2847)|biliary_tract(521)|ovary(443)|endometrium(339)|haematopoietic_and_lymphoid_tissue(318)|stomach(203)|thyroid(149)|prostate(85)|soft_tissue(77)|small_intestine(62)|upper_aerodigestive_tract(59)|cervix(49)|urinary_tract(48)|skin(38)|liver(31)|breast(28)|testis(17)|oesophagus(15)|central_nervous_system(9)|peritoneum(6)|salivary_gland(6)|kidney(5)|gastrointestinal_tract_(site_indeterminate)(5)|thymus(5)|eye(4)|autonomic_ganglia(2)|bone(2)|genital_tract(1)|penis(1)|adrenal_gland(1) 21052 all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12) OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05) GCCTACGCCACCAGCTCCAAC 0.348 Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869) G12D(HPAC_PANCREAS)|G12V(SW403_LARGE_INTESTINE)|G12D(HPAFII_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12V(NCIH441_LUNG)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(PK1_PANCREAS)|G12V(KP3_PANCREAS)|G12D(PANC0813_PANCREAS)|G12A(SW1116_LARGE_INTESTINE)|G12D(LS180_LARGE_INTESTINE)|G12V(NCIH727_LUNG)|G12V(PATU8988S_PANCREAS)|G12V(CAPAN2_PANCREAS)|G12D(KP4_PANCREAS)|G12D(LS513_LARGE_INTESTINE)|G12D(SNUC2A_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(COLO668_LUNG)|G12D(COLO678_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12D(PANC0203_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(SW900_LUNG)|G12V(LCLC97TM1_LUNG)|G12V(SW620_LARGE_INTESTINE)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12V(SH10TC_STOMACH)|G12V(A498_KIDNEY)|G12D(PK59_PANCREAS)|G12D(HEC1A_ENDOMETRIUM)|G12D(PANC0504_PANCREAS)|G12V(SNGM_ENDOMETRIUM)|G12A(RERFLCAD1_LUNG)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12D(ASPC1_PANCREAS)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12V(RCM1_LARGE_INTESTINE)|G12V(CORL23_LUNG)|G12D(SW1990_PANCREAS)|G12D(HEYA8_OVARY)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12V(HUPT4_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(HEC50B_ENDOMETRIUM)|G12V(YAPC_PANCREAS)|G12V(NCIH2444_LUNG)|G12V(HCC56_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12V(DANG_PANCREAS)|G12V(SHP77_LUNG)|G12D(AGS_STOMACH)|G12D(SKLU1_LUNG)|G12V(QGP1_PANCREAS)|G12D(L33_PANCREAS)|G12V(PANC0327_PANCREAS)|G12D(PANC1_PANCREAS)|G12V(RKN_OVARY)|G12V(PATU8902_PANCREAS) 119 Mis pancreatic|colorectal|lung|thyroid|AML|others Cardiofaciocutaneous_syndrome|Noonan_syndrome TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6) 7 18 0.00448238 0.00478939 0.004482 1 0 OR6C65 403282 broad.mit.edu 37 12 55794443 55794443 + Missense_Mutation SNP T T A TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01D-1489-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 2e4532d8-cebf-4bdf-95d0-5c02f94d186e g.chr12:55794443T>A uc010spl.1 + 1 131 c.131T>A c.(130-132)ATT>AAT p.I44N NM_001005518 NP_001005518 A6NJZ3 O6C65_HUMAN olfactory receptor, family 6, subfamily C, 44 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 ATGATCATCATTATGTTAACA 0.308 NA 11 25 0 0 0.008291 0 0 NAV3 89795 broad.mit.edu 37 12 78542638 78542638 + Missense_Mutation SNP G G T TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01D-1489-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 2e4532d8-cebf-4bdf-95d0-5c02f94d186e g.chr12:78542638G>T uc001syp.2 + 22 4897 c.4724G>T c.(4723-4725)CGG>CTG p.R1575L NAV3_uc001syo.2_Missense_Mutation_p.R1575L|NAV3_uc010sub.1_Missense_Mutation_p.R1061L|NAV3_uc009zsf.2_Missense_Mutation_p.R406L NM_014903 NP_055718 Q8IVL0 NAV3_HUMAN neuron navigator 3 1575 Potential. nuclear outer membrane ATP binding|nucleoside-triphosphatase activity large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1) 17 CATAAACTGCGGAGAGAGCTG 0.333 NA HNSCC(70;0.22) 3 11 0.000602214 0.000652399 0.014758 1 0 TMTC2 160335 broad.mit.edu 37 12 83251161 83251161 + Missense_Mutation SNP G G T TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01D-1489-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 2e4532d8-cebf-4bdf-95d0-5c02f94d186e g.chr12:83251161G>T uc001szt.2 + 2 888 c.456G>T c.(454-456)TTG>TTT p.L152F TMTC2_uc001szr.1_Missense_Mutation_p.L152F|TMTC2_uc001szs.1_Missense_Mutation_p.L152F|TMTC2_uc010suk.1_Intron NM_152588 NP_689801 Q8N394 TMTC2_HUMAN transmembrane and tetratricopeptide repeat 152 Helical; (Potential). endoplasmic reticulum|integral to membrane binding ovary(2) 2 TCCTCTCCTTGCTCTGCTACA 0.557 NA 21 46 4.7796e-09 5.96495e-09 0.004656 1 0 SPATA13 221178 broad.mit.edu 37 13 24860373 24860373 + Missense_Mutation SNP G G T TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01D-1489-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 2e4532d8-cebf-4bdf-95d0-5c02f94d186e g.chr13:24860373G>T uc001upg.1 + 5 855 c.448G>T c.(448-450)GTC>TTC p.V150F SPATA13_uc001upd.1_Missense_Mutation_p.V775F|C1QTNF9_uc001upe.2_RNA|SPATA13_uc010tcy.1_Missense_Mutation_p.V96F|SPATA13_uc010tcz.1_Missense_Mutation_p.V96F|SPATA13_uc010tda.1_Missense_Mutation_p.V94F|SPATA13_uc001uph.2_Missense_Mutation_p.V72F|SPATA13_uc010tdb.1_Missense_Mutation_p.V72F|SPATA13_uc009zzz.1_5'Flank NM_153023 NP_694568 Q96N96 SPT13_HUMAN spermatogenesis associated 13 150 SH3.|ABR (APC-binding region) domain. cell migration|filopodium assembly|lamellipodium assembly|regulation of cell migration|regulation of Rho protein signal transduction cytoplasm|filopodium|lamellipodium|ruffle membrane protein binding|Rac guanyl-nucleotide exchange factor activity skin(2)|ovary(1) 3 all_cancers(29;4.05e-15)|all_lung(29;2.77e-14)|all_epithelial(30;7.77e-13)|Lung SC(185;0.0279) all cancers(112;0.00616)|Epithelial(112;0.0195)|OV - Ovarian serous cystadenocarcinoma(117;0.0705)|Lung(94;0.231) TGGCAACGTGGTCTGCGCAGA 0.582 NA 173 263 4.26038e-92 7.14644e-92 0.01441 1 0 LOC220429 220429 broad.mit.edu 37 13 50466435 50466435 + Missense_Mutation SNP C C T TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01D-1489-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 2e4532d8-cebf-4bdf-95d0-5c02f94d186e g.chr13:50466435C>T uc001vdk.2 + 1 1891 c.1709C>T c.(1708-1710)ACC>ATC p.T570I NR_003268 Homo sapiens CTAGE family, member 5 pseudogene, mRNA (cDNA clone IMAGE:5270026). 0 CACCAGATTACCAGTGAAAGA 0.562 NA 6 64 0 0 0.001168 0 0 ATP7B 540 broad.mit.edu 37 13 52534313 52534313 + Missense_Mutation SNP T T C TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01D-1489-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 2e4532d8-cebf-4bdf-95d0-5c02f94d186e g.chr13:52534313T>C uc001vfw.2 - 7 2249 c.2092A>G c.(2092-2094)ATC>GTC p.I698V ATP7B_uc010adv.2_Intron|ATP7B_uc001vfx.2_Intron|ATP7B_uc001vfy.2_Missense_Mutation_p.I587V|ATP7B_uc010tgt.1_Missense_Mutation_p.I698V|ATP7B_uc010tgu.1_Missense_Mutation_p.I698V|ATP7B_uc010tgv.1_Missense_Mutation_p.I698V|ATP7B_uc001vfv.2_5'Flank|ATP7B_uc010tgs.1_Intron|ATP7B_uc010tgw.1_Intron NM_000053 NP_000044 P35670 ATP7B_HUMAN ATPase, Cu++ transporting, beta polypeptide 698 Helical; (Potential). ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion Golgi membrane|integral to plasma membrane|late endosome|mitochondrion ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding ovary(1)|central_nervous_system(1)|skin(1) 3 Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19) GBM - Glioblastoma multiforme(99;5.25e-08) ATAAAGAAGATGAGATTTAGA 0.478 NA Wilson_disease 25 73 0 0 0.004656 0 0 FCF1 51077 broad.mit.edu 37 14 75182766 75182766 + Missense_Mutation SNP T T G TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01D-1489-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 2e4532d8-cebf-4bdf-95d0-5c02f94d186e g.chr14:75182766T>G uc001xqh.2 + 4 307 c.256T>G c.(256-258)TTA>GTA p.L86V KIAA0317_uc001xqb.2_5'Flank|KIAA0317_uc010tut.1_5'Flank|KIAA0317_uc001xqc.2_5'Flank|KIAA0317_uc001xqd.1_5'Flank|FCF1_uc001xqf.1_Missense_Mutation_p.L71V|FCF1_uc001xqg.2_RNA|FCF1_uc001xqi.2_RNA NM_015962 NP_057046 Q9Y324 FCF1_HUMAN FCF1 small subunit 86 PINc. rRNA processing nucleolus ovary(1) 1 BRCA - Breast invasive adenocarcinoma(234;0.0037) CAAACTGGACTTAGTGCAGTC 0.358 NA 108 62 0 0 0.01441 0 0 GOLGA8DP 100132979 broad.mit.edu 37 15 22709152 22709152 + Missense_Mutation SNP G G T TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01D-1489-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 2e4532d8-cebf-4bdf-95d0-5c02f94d186e g.chr15:22709152G>T uc010axw.2 - 11 1245 c.347C>A c.(346-348)GCG>GAG p.A116E GOLGA8DP_uc010axx.2_Missense_Mutation_p.A116E|uc010tzw.1_5'Flank NM_001012423 NP_001012423 golgi autoantigen, golgin subfamily a, 8E 0 GGCCTGGAGCGCTCCTGCCAC 0.607 NA 6 112 0.00116845 0.00125709 0.001168 1 0 Unknown 0 broad.mit.edu 37 15 28600154 28600154 + Splice_Site SNP T T A TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01D-1489-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 2e4532d8-cebf-4bdf-95d0-5c02f94d186e g.chr15:28600154T>A uc010uaf.1 - 3 196 c.178_splice c.e3-1 p.E60_splice SubName: Full=Putative uncharacterized protein ENSP00000383535; Flags: Fragment; NA CTTCTGTTCCTATAGAAAGAG 0.557 NA 11 56 0 0 0.020292 0 0 THSD4 79875 broad.mit.edu 37 15 72037537 72037537 + Missense_Mutation SNP G G A TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01D-1489-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 2e4532d8-cebf-4bdf-95d0-5c02f94d186e g.chr15:72037537G>A uc002atb.1 + 11 2078 c.1999G>A c.(1999-2001)GAG>AAG p.E667K THSD4_uc002ate.2_Missense_Mutation_p.E307K NM_024817 NP_079093 Q6ZMP0 THSD4_HUMAN thrombospondin, type I, domain containing 4 667 proteinaceous extracellular matrix metalloendopeptidase activity ovary(2) 2 GCCGACCCCCGAGGAGGAGCC 0.547 NA 186 399 0 0 0.01441 0 0 WASH3P 374666 broad.mit.edu 37 15 102515299 102515299 + Missense_Mutation SNP G G A TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01D-1489-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 2e4532d8-cebf-4bdf-95d0-5c02f94d186e g.chr15:102515299G>A uc002cdi.2 + 9 1943 c.523G>A c.(523-525)GGC>AGC p.G175S WASH3P_uc002cdl.2_Missense_Mutation_p.G175S|WASH3P_uc002cdk.2_RNA|WASH3P_uc002cdp.2_Missense_Mutation_p.G175S|WASH3P_uc010bpo.2_RNA|WASH3P_uc002cdq.2_RNA|WASH3P_uc002cdr.2_RNA NR_003659 RecName: Full=WAS protein family homolog 2; AltName: Full=Protein FAM39B; AltName: Full=CXYorf1-like protein on chromosome 2; 0 TGGGGGCATCGGCAAGGCCAA 0.652 NA 8 28 0 0 0.006214 0 0 C16orf11 146325 broad.mit.edu 37 16 613967 613967 + Missense_Mutation SNP C C G TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01D-1489-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 2e4532d8-cebf-4bdf-95d0-5c02f94d186e g.chr16:613967C>G uc002chk.2 + 2 952 c.673C>G c.(673-675)CCC>GCC p.P225A NM_145270 NP_660313 P0CG20 CP011_HUMAN hypothetical protein LOC146325 225 Pro-rich. central_nervous_system(1) 1 CTACTTGGGGCCCTCACTGGC 0.731 NA 3 14 0 0 0.004672 0 0 OR1F2P 26184 broad.mit.edu 37 16 3266457 3266457 + Missense_Mutation SNP G G A TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01D-1489-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 2e4532d8-cebf-4bdf-95d0-5c02f94d186e g.chr16:3266457G>A uc010uwv.1 + 1 896 c.748G>A c.(748-750)GTG>ATG p.V250M NR_002169 RecName: Full=Olfactory receptor 1F2; AltName: Full=OLFmf2; 0 GGTGACTCCCGTGATGAATCC 0.433 NA 5 18 0 0 0.00308 0 0 SH2B1 25970 broad.mit.edu 37 16 28877650 28877650 + Missense_Mutation SNP G G A TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01D-1489-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 2e4532d8-cebf-4bdf-95d0-5c02f94d186e g.chr16:28877650G>A uc002dri.2 + 4 674 c.235G>A c.(235-237)GAG>AAG p.E79K uc010vct.1_Intron|SH2B1_uc010vdc.1_Intron|SH2B1_uc002drj.2_Missense_Mutation_p.E79K|SH2B1_uc002drk.2_Missense_Mutation_p.E79K|SH2B1_uc002drl.2_Missense_Mutation_p.E79K|SH2B1_uc010vdd.1_Intron|SH2B1_uc010vde.1_Missense_Mutation_p.E79K|SH2B1_uc002drm.2_Missense_Mutation_p.E79K NM_001145795 NP_001139267 Q9NRF2 SH2B1_HUMAN SH2B adaptor protein 1 isoform 1 79 Interaction with JAK2 (low-affinity binding; independent of JAK2 phosphorylation) (By similarity).|Required for self-association. blood coagulation|intracellular signal transduction cytosol|membrane|nucleus signal transducer activity ovary(2) 2 CTTTGAAGCCGAGGTGGCCCG 0.667 NA 5 49 0 0 0.001984 0 0 LAT 27040 broad.mit.edu 37 16 28996766 28996766 + Missense_Mutation SNP G G A TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01D-1489-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 2e4532d8-cebf-4bdf-95d0-5c02f94d186e g.chr16:28996766G>A uc002dsd.2 + 1 380 c.28G>A c.(28-30)GTG>ATG p.V10M uc010vct.1_Intron|SPNS1_uc010byq.1_3'UTR|LAT_uc010vdj.1_Missense_Mutation_p.V46M|LAT_uc002dsb.2_Missense_Mutation_p.V10M|LAT_uc002dsc.2_Missense_Mutation_p.V10M|LAT_uc010vdk.1_Missense_Mutation_p.V10M|LAT_uc010vdl.1_Missense_Mutation_p.V10M NM_014387 NP_055202 O43561 LAT_HUMAN linker for activation of T cells isoform a 10 Helical; Signal-anchor for type III membrane protein; (Potential). calcium-mediated signaling|integrin-mediated signaling pathway|mast cell degranulation|platelet activation|Ras protein signal transduction|regulation of T cell activation|T cell receptor signaling pathway immunological synapse|integral to membrane|intracellular|membrane raft SH3/SH2 adaptor activity 0 Hepatocellular(780;0.244) GGTCCCCTGCGTGCTGGGGCT 0.637 NA 38 95 0 0 0.00623 0 0 TAOK2 9344 broad.mit.edu 37 16 29996668 29996668 + Missense_Mutation SNP G G T TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01D-1489-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 2e4532d8-cebf-4bdf-95d0-5c02f94d186e g.chr16:29996668G>T uc002dva.1 + 14 2340 c.1557G>T c.(1555-1557)GAG>GAT p.E519D uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|TAOK2_uc002dvb.1_Missense_Mutation_p.E519D|TAOK2_uc002dvc.1_Missense_Mutation_p.E519D|TAOK2_uc010bzm.1_Missense_Mutation_p.E526D|TAOK2_uc002dvd.1_Missense_Mutation_p.E346D NM_016151 NP_057235 Q9UL54 TAOK2_HUMAN TAO kinase 2 isoform 2 519 Potential. actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus ATP binding|protein serine/threonine kinase activity ovary(1) 1 AACGGGAGGAGCACAGTGCAC 0.672 NA 33 53 3.11337e-16 4.4971e-16 0.013726 1 0 GLG1 2734 broad.mit.edu 37 16 74526922 74526922 + Silent SNP G G A TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01D-1489-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 2e4532d8-cebf-4bdf-95d0-5c02f94d186e g.chr16:74526922G>A uc002fcy.3 - 7 1217 c.1167C>T c.(1165-1167)AAC>AAT p.N389N GLG1_uc002fcx.2_Silent_p.N389N|GLG1_uc002fcw.3_Silent_p.N378N|GLG1_uc002fcz.3_Intron NM_001145667 NP_001139139 Q92896 GSLG1_HUMAN golgi apparatus protein 1 isoform 3 389 Cys-rich GLG1 5.|Extracellular (Potential). Golgi membrane|integral to membrane receptor binding ovary(1)|breast(1) 2 ATCGCGGAAGGTTTTCCACAT 0.418 NA 13 144 0 0 0.020292 0 0 MTHFSD 64779 broad.mit.edu 37 16 86565744 86565744 + Missense_Mutation SNP C C T TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01D-1489-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 2e4532d8-cebf-4bdf-95d0-5c02f94d186e g.chr16:86565744C>T uc002fjn.2 - 8 1076 c.1025G>A c.(1024-1026)CGG>CAG p.R342Q MTHFSD_uc010voo.1_Missense_Mutation_p.R322Q|MTHFSD_uc002fjo.2_Missense_Mutation_p.R179Q|MTHFSD_uc002fjm.2_Missense_Mutation_p.R341Q|MTHFSD_uc010vop.1_Missense_Mutation_p.R179Q|MTHFSD_uc010voq.1_Missense_Mutation_p.R341Q|MTHFSD_uc010vor.1_Missense_Mutation_p.R342Q NM_001159377 NP_001152849 Q2M296 MTHSD_HUMAN methenyltetrahydrofolate synthetase domain 342 RRM. folic acid-containing compound biosynthetic process 5-formyltetrahydrofolate cyclo-ligase activity|ATP binding|RNA binding 0 GGCTCTGCGCCGCGGGCCCTG 0.711 NA 7 17 0 0 0.004482 0 0 ZNF287 57336 broad.mit.edu 37 17 16470691 16470691 + Missense_Mutation SNP C C T TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01D-1489-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 2e4532d8-cebf-4bdf-95d0-5c02f94d186e g.chr17:16470691C>T uc002gqi.2 - 2 808 c.355G>A c.(355-357)GAA>AAA p.E119K NM_020653 NP_065704 Q9HBT7 ZN287_HUMAN zinc finger protein 287 112 SCAN box. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 UCEC - Uterine corpus endometrioid carcinoma (92;0.083) GTCACTGCTTCCTCGCTGCTC 0.507 NA 48 44 0 0 0.01441 0 0 GSDMB 55876 broad.mit.edu 37 17 38066035 38066035 + Nonsense_Mutation SNP G G A TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01D-1489-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 2e4532d8-cebf-4bdf-95d0-5c02f94d186e g.chr17:38066035G>A uc010cwj.2 - 3 555 c.550C>T c.(550-552)CAG>TAG p.Q184* GSDMB_uc010cwi.2_5'Flank|GSDMB_uc010cwk.2_RNA|GSDMB_uc010cwl.2_RNA|GSDMB_uc010cwm.2_Intron|GSDMB_uc002htg.2_Nonsense_Mutation_p.Q184*|GSDMB_uc002hth.2_Nonsense_Mutation_p.Q184*|GSDMB_uc010wem.1_Nonsense_Mutation_p.Q184* NM_001042471 NP_001035936 Q8TAX9 GSDMB_HUMAN gasdermin B isoform 1 184 cytoplasm breast(1)|pancreas(1) 2 AGATGGCCCTGAGAGATCTGG 0.532 NA 63 143 0 0 0.01441 0 0 KIF2B 84643 broad.mit.edu 37 17 51902309 51902309 + Missense_Mutation SNP G G T TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01D-1489-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 2e4532d8-cebf-4bdf-95d0-5c02f94d186e g.chr17:51902309G>T uc002iua.2 + 1 2071 c.1915G>T c.(1915-1917)GCC>TCC p.A639S uc010wna.1_RNA NM_032559 NP_115948 Q8N4N8 KIF2B_HUMAN kinesin family member 2B 639 blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle ATP binding|microtubule motor activity ovary(5)|skin(3) 8 TTTTTGCATTGCCCGGTCTTT 0.448 NA 32 79 1.39806e-14 1.96483e-14 0.008361 1 0 PTPRM 5797 broad.mit.edu 37 18 7926632 7926632 + Missense_Mutation SNP A A G TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01D-1489-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 2e4532d8-cebf-4bdf-95d0-5c02f94d186e g.chr18:7926632A>G uc002knn.3 + 5 1117 c.614A>G c.(613-615)CAG>CGG p.Q205R PTPRM_uc010dkv.2_Missense_Mutation_p.Q205R NM_002845 NP_002836 P28827 PTPRM_HUMAN protein tyrosine phosphatase, receptor type, M 205 Ig-like C2-type.|Extracellular (Potential). homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm cadherin binding|transmembrane receptor protein tyrosine phosphatase activity lung(3)|ovary(2)|central_nervous_system(1) 6 Colorectal(10;0.234) GCTACCTTCCAGTGCAGTGCC 0.463 NA 36 75 0 0 0.01441 0 0 ASXL3 80816 broad.mit.edu 37 18 31323885 31323885 + Missense_Mutation SNP T T C TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01D-1489-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 2e4532d8-cebf-4bdf-95d0-5c02f94d186e g.chr18:31323885T>C uc010dmg.1 + 12 4128 c.4073T>C c.(4072-4074)GTC>GCC p.V1358A ASXL3_uc002kxq.2_Missense_Mutation_p.V1065A NM_030632 NP_085135 Q9C0F0 ASXL3_HUMAN additional sex combs like 3 1358 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding ovary(2)|pancreas(1) 3 ACTAGCTCTGTCTTGATTCCC 0.473 NA OREG0024911 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 142 319 0 0 0.01441 0 0 NOL4 8715 broad.mit.edu 37 18 31523045 31523045 + Missense_Mutation SNP C C A TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01D-1489-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 2e4532d8-cebf-4bdf-95d0-5c02f94d186e g.chr18:31523045C>A uc010dmi.2 - 9 1755 c.1526G>T c.(1525-1527)CGT>CTT p.R509L NOL4_uc010xbs.1_Missense_Mutation_p.R224L|NOL4_uc002kxr.3_Missense_Mutation_p.R281L|NOL4_uc010xbt.1_Missense_Mutation_p.R435L|NOL4_uc010dmh.2_Missense_Mutation_p.R371L|NOL4_uc010xbu.1_Missense_Mutation_p.R445L|NOL4_uc002kxt.3_Intron|NOL4_uc010xbv.1_Missense_Mutation_p.R194L NM_003787 NP_003778 O94818 NOL4_HUMAN nucleolar protein 4 509 nucleolus RNA binding ovary(3) 3 TCTCTCCAGACGCATCCTCTT 0.443 NA 17 30 5.3912e-06 6.22984e-06 0.006122 1 0 SETBP1 26040 broad.mit.edu 37 18 42532619 42532619 + Missense_Mutation SNP G G T TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01D-1489-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 2e4532d8-cebf-4bdf-95d0-5c02f94d186e g.chr18:42532619G>T uc010dni.2 + 4 3610 c.3314G>T c.(3313-3315)GGT>GTT p.G1105V NM_015559 NP_056374 Q9Y6X0 SETBP_HUMAN SET binding protein 1 isoform a 1105 nucleus DNA binding upper_aerodigestive_tract(2)|large_intestine(1) 3 Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201) AAGATGTCCGGTGCAGCTAAG 0.547 NA Schinzel-Giedion_syndrome 59 137 7.50695e-29 1.18291e-28 0.01441 1 0 CDH20 28316 broad.mit.edu 37 18 59157904 59157904 + Missense_Mutation SNP C C A TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01D-1489-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 2e4532d8-cebf-4bdf-95d0-5c02f94d186e g.chr18:59157904C>A uc010dps.1 + 1 130 c.118C>A c.(118-120)CAA>AAA p.Q40K CDH20_uc002lif.2_Missense_Mutation_p.Q34K NM_031891 NP_114097 Q9HBT6 CAD20_HUMAN cadherin 20, type 2 preproprotein 40 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(3)|ovary(1)|pancreas(1) 5 Colorectal(73;0.186) CCCAACACCACAAGGTGAATT 0.512 NA 13 110 0.00010058 0.00011128 0.013537 1 0 ANKRD24 170961 broad.mit.edu 37 19 4216959 4216959 + Missense_Mutation SNP C C A TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01D-1489-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 2e4532d8-cebf-4bdf-95d0-5c02f94d186e g.chr19:4216959C>A uc010dtt.1 + 18 2078 c.1802C>A c.(1801-1803)CCC>CAC p.P601H ANKRD24_uc002lzs.2_Missense_Mutation_p.P572H|ANKRD24_uc002lzt.2_Missense_Mutation_p.P573H NM_133475 NP_597732 Q8TF21 ANR24_HUMAN ankyrin repeat domain 24 601 0 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0233)|STAD - Stomach adenocarcinoma(1328;0.181) GAAACAAAACCCACAGGGGCT 0.567 NA 20 23 1.56452e-12 2.10402e-12 0.007413 1 0 STAP2 55620 broad.mit.edu 37 19 4327149 4327149 + Silent SNP C C A TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01D-1489-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 2e4532d8-cebf-4bdf-95d0-5c02f94d186e g.chr19:4327149C>A uc002mab.2 - 8 832 c.735G>T c.(733-735)CTG>CTT p.L245L STAP2_uc002mac.2_Silent_p.L245L|STAP2_uc002mad.2_Silent_p.L138L NM_001013841 NP_001013863 Q9UGK3 STAP2_HUMAN signal transducing adaptor family member 2 245 SH2. cytoplasm|nucleus protein binding central_nervous_system(1) 1 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0339)|STAD - Stomach adenocarcinoma(1328;0.18) CCTCGTCTAACAGGAATGGCA 0.647 NA 26 86 9.04412e-07 1.06885e-06 0.004656 1 0 EMR3 84658 broad.mit.edu 37 19 14758015 14758015 + Missense_Mutation SNP G G A TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01D-1489-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 2e4532d8-cebf-4bdf-95d0-5c02f94d186e g.chr19:14758015G>A uc002mzi.3 - 8 1008 c.860C>T c.(859-861)ACG>ATG p.T287M EMR3_uc010dzp.2_Missense_Mutation_p.T235M|EMR3_uc010xnv.1_Missense_Mutation_p.T161M NM_032571 NP_115960 Q9BY15 EMR3_HUMAN egf-like module-containing mucin-like receptor 287 Extracellular (Potential). neuropeptide signaling pathway extracellular space|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity ovary(5)|skin(1) 6 GAAAGTCAGCGTCACAGACTT 0.483 NA 16 479 0 0 0.004007 0 0 CYP4F3 4051 broad.mit.edu 37 19 15758117 15758117 + Missense_Mutation SNP A A T TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01D-1489-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 2e4532d8-cebf-4bdf-95d0-5c02f94d186e g.chr19:15758117A>T uc002nbj.2 + 5 558 c.508A>T c.(508-510)AGT>TGT p.S170C CYP4F3_uc010xok.1_Missense_Mutation_p.S170C|CYP4F3_uc010xol.1_Missense_Mutation_p.S170C|CYP4F3_uc010xom.1_Missense_Mutation_p.S21C|CYP4F3_uc002nbk.2_Missense_Mutation_p.S170C|CYP4F3_uc010xon.1_5'Flank NM_000896 NP_000887 Q08477 CP4F3_HUMAN cytochrome P450, family 4, subfamily F, 170 leukotriene metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding ovary(3) 3 TTTCAATGAGAGTGTGAACAT 0.438 NA 77 146 0 0 0.01441 0 0 CYP4F12 66002 broad.mit.edu 37 19 15789113 15789113 + Missense_Mutation SNP T T A TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01D-1489-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 2e4532d8-cebf-4bdf-95d0-5c02f94d186e g.chr19:15789113T>A uc002nbl.2 + 3 302 c.241T>A c.(241-243)TCG>ACG p.S81T CYP4F12_uc010xoo.1_Missense_Mutation_p.S81T|CYP4F12_uc010xop.1_Missense_Mutation_p.S81T NM_023944 NP_076433 cytochrome P450, family 4, subfamily F, skin(3)|ovary(2)|central_nervous_system(2) 7 Acute lymphoblastic leukemia(2;0.0367) GACCCAGATGTCGGCCACCTA 0.458 NA 50 188 0 0 0.01441 0 0 ZNF43 7594 broad.mit.edu 37 19 21991490 21991491 + Missense_Mutation DNP CC CC AA TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01D-1489-08 CC CC - - CC CC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 2e4532d8-cebf-4bdf-95d0-5c02f94d186e g.chr19:21991490_21991491CC>AA uc002nqj.2 - 4 1478_1479 c.1348_1349GG>TT c.(1348-1350)GGA>TTA p.G450L ZNF43_uc010ecv.2_Missense_Mutation_p.G444L|ZNF43_uc002nql.2_Missense_Mutation_p.G444L|ZNF43_uc002nqm.2_Missense_Mutation_p.G444L|ZNF43_uc002nqk.2_Missense_Mutation_p.G380L NM_003423 NP_003414 P17038 ZNF43_HUMAN zinc finger protein 43 450 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(1)|ovary(1) 2 Renal(1328;0.000219)|Hepatocellular(1079;0.121) GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127) GGGTTTCTCTCCAGTATGAATT 0.381 NA 20 36 0 0 0.004672 0 0 PAF1 54623 broad.mit.edu 37 19 39879075 39879075 + Missense_Mutation SNP C C A TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01D-1489-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 2e4532d8-cebf-4bdf-95d0-5c02f94d186e g.chr19:39879075C>A uc002old.2 - 11 1065 c.890G>T c.(889-891)TGG>TTG p.W297L PAF1_uc002ole.1_Missense_Mutation_p.W287L|PAF1_uc010xuv.1_RNA|MED29_uc010xuw.1_5'Flank|MED29_uc002olf.2_5'Flank|MED29_uc010xux.1_5'Flank NM_019088 NP_061961 Q8N7H5 PAF1_HUMAN Paf1, RNA polymerase II associated factor, 297 histone H2B ubiquitination|histone monoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent Cdc73/Paf1 complex protein binding pancreas(1) 1 all_cancers(60;9.14e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.88e-06)|Ovarian(47;0.0512) Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199) CTTCACGTTCCAGTTGTACTC 0.478 NA 87 196 4.3955e-51 7.14269e-51 0.01441 1 0 LILRB1 10859 broad.mit.edu 37 19 55144063 55144063 + Silent SNP C C T TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01D-1489-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 2e4532d8-cebf-4bdf-95d0-5c02f94d186e g.chr19:55144063C>T uc002qgj.2 + 7 1150 c.810C>T c.(808-810)GGC>GGT p.G270G LILRB1_uc010erp.1_Intron|LILRB1_uc002qgl.2_Silent_p.G270G|LILRB1_uc002qgk.2_Silent_p.G270G|LILRB1_uc002qgm.2_Silent_p.G270G|LILRB1_uc010erq.2_Silent_p.G270G|LILRB1_uc010err.2_RNA NM_006669 NP_006660 Q8NHL6 LIRB1_HUMAN leukocyte immunoglobulin-like receptor, 270 Ig-like C2-type 3.|Extracellular (Potential). regulation of immune response|response to virus integral to membrane|plasma membrane protein phosphatase 1 binding|receptor activity large_intestine(1)|ovary(1)|skin(1) 3 GBM - Glioblastoma multiforme(193;0.0188) AGCTCGCTGGCGCACAGCCCC 0.607 NA HNSCC(37;0.09) 86 167 0 0 0.01441 0 0 ZSCAN1 284312 broad.mit.edu 37 19 58551855 58551855 + Missense_Mutation SNP G G T TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01D-1489-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 2e4532d8-cebf-4bdf-95d0-5c02f94d186e g.chr19:58551855G>T uc002qrc.1 + 4 655 c.408G>T c.(406-408)TGG>TGT p.W136C NM_182572 NP_872378 Q8NBB4 ZSCA1_HUMAN zinc finger and SCAN domain containing 1 136 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2) 2 Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152) CCCAGGACTGGAGTTTCGGTG 0.622 NA 160 343 7.80376e-85 1.29509e-84 0.01441 1 0 LTBP1 4052 broad.mit.edu 37 2 33572578 33572578 + Splice_Site SNP G G A TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01D-1489-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 2e4532d8-cebf-4bdf-95d0-5c02f94d186e g.chr2:33572578G>A uc002ros.2 + 26 4003 c.4003_splice c.e26+1 p.D1335_splice LTBP1_uc002rot.2_Splice_Site_p.D1009_splice|LTBP1_uc002rou.2_Splice_Site_p.D1008_splice|LTBP1_uc002rov.2_Splice_Site_p.D955_splice|LTBP1_uc010ymz.1_Splice_Site_p.D966_splice|LTBP1_uc010yna.1_Splice_Site_p.D913_splice|LTBP1_uc010ynb.1_Splice_Site_p.D232_splice NM_206943 NP_996826 Q14766 LTBP1_HUMAN latent transforming growth factor beta binding negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta proteinaceous extracellular matrix calcium ion binding|growth factor binding|transforming growth factor beta receptor activity ovary(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|central_nervous_system(1) 8 all_hematologic(175;0.115) Medulloblastoma(90;0.215) ACCTCCACAGGTAAGTCCCAG 0.547 NA 87 157 0 0 0.01441 0 0 MYADML 151325 broad.mit.edu 37 2 33952372 33952372 + Silent SNP G G A TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01D-1489-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 2e4532d8-cebf-4bdf-95d0-5c02f94d186e g.chr2:33952372G>A uc002rpb.2 - 1 913 c.471C>T c.(469-471)ATC>ATT p.I157I NR_003143 RecName: Full=Myeloid-associated differentiation marker-like protein.; 0 TGGGGAAGCGGATGGGCAGCA 0.632 NA 14 27 0 0 0.016723 0 0 PPM1B 5495 broad.mit.edu 37 2 44429147 44429147 + Missense_Mutation SNP A A G TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01D-1489-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 2e4532d8-cebf-4bdf-95d0-5c02f94d186e g.chr2:44429147A>G uc002rtt.2 + 2 1237 c.809A>G c.(808-810)AAT>AGT p.N270S PPM1B_uc002rts.2_Missense_Mutation_p.N270S|PPM1B_uc002rtu.2_Missense_Mutation_p.N270S|PPM1B_uc002rtv.2_Intron|PPM1B_uc002rtw.2_Missense_Mutation_p.N270S|PPM1B_uc002rtx.2_Missense_Mutation_p.N270S NM_002706 NP_002697 O75688 PPM1B_HUMAN protein phosphatase 1B isoform 1 270 protein dephosphorylation protein serine/threonine phosphatase complex magnesium ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity kidney(1)|skin(1) 2 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) GACCTGGAAAATGTGTGCAAT 0.353 NA 15 44 0 0 0.008871 0 0 MYO7B 4648 broad.mit.edu 37 2 128391816 128391816 + Silent SNP G G A TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01D-1489-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 2e4532d8-cebf-4bdf-95d0-5c02f94d186e g.chr2:128391816G>A uc002top.2 + 40 5552 c.5499G>A c.(5497-5499)CAG>CAA p.Q1833Q MYO7B_uc002tos.1_5'UTR|MYO7B_uc002tot.2_5'UTR NM_001080527 NP_001073996 Q6PIF6 MYO7B_HUMAN myosin VIIB 1833 FERM 2.|MyTH4 3. 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) CCAGGCTGCAGCTGGCCTCCT 0.662 NA 7 12 0 0 0.00308 0 0 WIPF1 7456 broad.mit.edu 37 2 175437101 175437101 + Silent SNP T T A TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01D-1489-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 2e4532d8-cebf-4bdf-95d0-5c02f94d186e g.chr2:175437101T>A uc002uiy.2 - 6 764 c.432A>T c.(430-432)CCA>CCT p.P144P uc002uiw.2_Intron|uc002uix.1_Intron|WIPF1_uc002uja.2_Silent_p.P144P|WIPF1_uc010fqt.1_Silent_p.P144P|WIPF1_uc002ujc.1_Silent_p.P144P|WIPF1_uc002uiz.2_Silent_p.P144P|WIPF1_uc002ujb.1_Silent_p.P144P|WIPF1_uc010zep.1_Silent_p.P144P NM_003387 NP_003378 O43516 WIPF1_HUMAN WAS/WASL interacting protein family, member 1 144 actin polymerization or depolymerization|protein complex assembly cytoplasmic membrane-bounded vesicle actin binding|profilin binding ovary(1)|skin(1) 2 CTGGGCCACTTGGGGGTGAAA 0.582 NA 43 111 0 0 0.009718 0 0 TRPM8 79054 broad.mit.edu 37 2 234835266 234835266 + Silent SNP G G A rs149381224 TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01D-1489-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 2e4532d8-cebf-4bdf-95d0-5c02f94d186e g.chr2:234835266G>A uc002vvh.2 + 2 124 c.84G>A c.(82-84)GCG>GCA p.A28A TRPM8_uc010fyj.2_5'UTR NM_024080 NP_076985 Q7Z2W7 TRPM8_HUMAN transient receptor potential cation channel, 28 Cytoplasmic (Potential). integral to membrane skin(4) 4 Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224) Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108) Menthol(DB00825) ACTCCAGCGCGTCTCGGAGCA 0.512 NA 28 63 0 0 0.004656 0 0 GART 2618 broad.mit.edu 37 21 34883584 34883584 + Silent SNP A A G TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01D-1489-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 2e4532d8-cebf-4bdf-95d0-5c02f94d186e g.chr21:34883584A>G uc002yrx.2 - 17 2424 c.2289T>C c.(2287-2289)ATT>ATC p.I763I GART_uc002yrz.2_Silent_p.I763I|GART_uc010gmd.2_Silent_p.I425I|GART_uc002yry.2_Silent_p.I763I NM_000819 NP_000810 P22102 PUR2_HUMAN phosphoribosylglycinamide formyltransferase, 763 AIRS. 'de novo' IMP biosynthetic process|purine base biosynthetic process cytosol ATP binding|metal ion binding|methyltransferase activity|phosphoribosylamine-glycine ligase activity|phosphoribosylformylglycinamidine cyclo-ligase activity|phosphoribosylglycinamide formyltransferase activity|protein binding ovary(1) 1 Pemetrexed(DB00642) CCACACTGCCAATCACCCAGG 0.453 NA 137 336 0 0 0.01441 0 0 DSCAM 1826 broad.mit.edu 37 21 41496170 41496170 + Silent SNP G G A TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01D-1489-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 2e4532d8-cebf-4bdf-95d0-5c02f94d186e g.chr21:41496170G>A uc002yyq.1 - 20 4100 c.3648C>T c.(3646-3648)AAC>AAT p.N1216N DSCAM_uc002yyr.1_RNA NM_001389 NP_001380 O60469 DSCAM_HUMAN Down syndrome cell adhesion molecule isoform 1216 Fibronectin type-III 4.|Extracellular (Potential). cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction protein binding ovary(6)|skin(4)|upper_aerodigestive_tract(1) 11 all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103) GGATGATGCCGTTCAGCTTGA 0.572 Melanoma(134;970 1778 1785 21664 32388) NA 12 334 0 0 0.010729 0 0 POFUT2 23275 broad.mit.edu 37 21 46697007 46697007 + Missense_Mutation SNP C C A TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01D-1489-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 2e4532d8-cebf-4bdf-95d0-5c02f94d186e g.chr21:46697007C>A uc002zhc.2 - 6 781 c.756G>T c.(754-756)GAG>GAT p.E252D POFUT2_uc002zha.2_RNA|POFUT2_uc002zhb.2_RNA|POFUT2_uc002zhd.2_Missense_Mutation_p.E252D NM_133635 NP_598368 Q9Y2G5 OFUT2_HUMAN protein O-fucosyltransferase 2 isoform C 252 fucose metabolic process endoplasmic reticulum peptide-O-fucosyltransferase activity 0 Colorectal(79;0.243) TGCTCCTGAACTCGTCTCCCA 0.612 NA 80 204 2.60632e-51 4.27984e-51 0.01441 1 0 CCDC116 164592 broad.mit.edu 37 22 21991045 21991045 + Nonsense_Mutation SNP C C T TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01D-1489-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 2e4532d8-cebf-4bdf-95d0-5c02f94d186e g.chr22:21991045C>T uc002zve.2 + 5 1621 c.1528C>T c.(1528-1530)CAG>TAG p.Q510* NM_152612 NP_689825 Q8IYX3 CC116_HUMAN coiled-coil domain containing 116 510 ovary(1)|skin(1) 2 Colorectal(54;0.105) AAGGGCCCGGCAGGCCTCCCG 0.642 NA 91 149 0 0 0.01441 0 0 NPTXR 23467 broad.mit.edu 37 22 39218644 39218644 + Silent SNP G G A rs145163836 TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01D-1489-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 2e4532d8-cebf-4bdf-95d0-5c02f94d186e g.chr22:39218644G>A uc003awk.2 - 5 1627 c.1473C>T c.(1471-1473)TTC>TTT p.F491F NM_014293 NP_055108 O95502 NPTXR_HUMAN neuronal pentraxin receptor 491 Pentaxin.|Extracellular (Potential). integral to membrane metal ion binding central_nervous_system(2)|skin(1) 3 Melanoma(58;0.04) TGCAGACATCGAAGGCAGCCT 0.622 Pancreas(139;2521 3281 36965) NA 20 49 0 0 0.008871 0 0 PRR5 55615 broad.mit.edu 37 22 45075718 45075718 + Silent SNP C C T TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01D-1489-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 2e4532d8-cebf-4bdf-95d0-5c02f94d186e g.chr22:45075718C>T uc010gzt.1 + 2 925 c.39C>T c.(37-39)GGC>GGT p.G13G PRR5_uc003bew.1_Intron|PRR5_uc003bex.1_Intron|PRR5_uc010gzu.1_Intron|PRR5_uc003bey.1_Intron|PRR5_uc003bez.1_Intron NM_001017530 NP_001017530 P85299 PRR5_HUMAN proline rich 5 (renal) isoform 3 Error:Variant_position_missing_in_P85299_after_alignment cell cycle skin(1) 1 all_neural(38;0.00409)|Ovarian(80;0.024)|Glioma(61;0.0647) UCEC - Uterine corpus endometrioid carcinoma (28;0.168) AAGCCTGGGGCTCGGGAAGCC 0.612 NA 10 14 0 0 0.013537 0 0 MAGI1 9223 broad.mit.edu 37 3 65479199 65479199 + Missense_Mutation SNP C C A TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01D-1489-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 2e4532d8-cebf-4bdf-95d0-5c02f94d186e g.chr3:65479199C>A uc003dmn.2 - 3 1064 c.538G>T c.(538-540)GGC>TGC p.G180C MAGI1_uc003dmm.2_Missense_Mutation_p.G180C|MAGI1_uc003dmo.2_Missense_Mutation_p.G180C|MAGI1_uc003dmp.2_Missense_Mutation_p.G180C|MAGI1_uc010hny.2_Missense_Mutation_p.G64C|MAGI1_uc003dmr.2_Missense_Mutation_p.G180C NM_001033057 NP_001028229 Q96QZ7 MAGI1_HUMAN membrane associated guanylate kinase, WW and PDZ 180 Guanylate kinase-like. cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly tight junction ATP binding|protein C-terminus binding lung(2)|skin(1)|breast(1)|kidney(1)|pancreas(1) 6 Lung NSC(201;0.0016) BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133) TCATAGGTGCCGACTTCCAGA 0.498 NA 36 75 9.65963e-10 1.24537e-09 0.015359 1 0 EPHA6 285220 broad.mit.edu 37 3 96963011 96963011 + Missense_Mutation SNP G G T TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01D-1489-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 2e4532d8-cebf-4bdf-95d0-5c02f94d186e g.chr3:96963011G>T uc010how.1 + 5 1529 c.1486G>T c.(1486-1488)GTA>TTA p.V496L EPHA6_uc003drp.1_Missense_Mutation_p.V496L NM_001080448 NP_001073917 Q9UF33 EPHA6_HUMAN EPH receptor A6 isoform a 401 Fibronectin type-III 1.|Extracellular (Potential). integral to plasma membrane ATP binding|ephrin receptor activity stomach(5)|lung(4)|central_nervous_system(3)|breast(1)|skin(1)|ovary(1)|kidney(1) 16 TTCCGTGATAGTACTTGACTT 0.443 NA 14 29 0.000151284 0.0001662 0.016723 1 0 NAALADL2 254827 broad.mit.edu 37 3 174951895 174951895 + Silent SNP T T C TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01D-1489-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 2e4532d8-cebf-4bdf-95d0-5c02f94d186e g.chr3:174951895T>C uc003fit.2 + 3 807 c.720T>C c.(718-720)TTT>TTC p.F240F NAALADL2_uc003fiu.1_Silent_p.F233F|NAALADL2_uc010hwy.1_Silent_p.F62F NM_207015 NP_996898 Q58DX5 NADL2_HUMAN N-acetylated alpha-linked acidic dipeptidase 2 240 Extracellular (Potential). proteolysis integral to membrane peptidase activity pancreas(1) 1 Ovarian(172;0.0102) all_cancers(1;0.0272)|all_epithelial(1;0.0553) OV - Ovarian serous cystadenocarcinoma(80;9.26e-28) Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284) GTCAATGCTTTCATCCTAATG 0.488 NA 3 95 0 0 0.004672 0 0 PEX5L 51555 broad.mit.edu 37 3 179519752 179519752 + Missense_Mutation SNP G G C TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01D-1489-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 2e4532d8-cebf-4bdf-95d0-5c02f94d186e g.chr3:179519752G>C uc003fki.1 - 15 1875 c.1745C>G c.(1744-1746)CCT>CGT p.P582R PEX5L_uc011bqd.1_Missense_Mutation_p.P539R|PEX5L_uc011bqe.1_Missense_Mutation_p.P390R|PEX5L_uc011bqf.1_Missense_Mutation_p.P474R|PEX5L_uc003fkj.1_Missense_Mutation_p.P547R|PEX5L_uc010hxd.1_Missense_Mutation_p.P580R|PEX5L_uc011bqg.1_Missense_Mutation_p.P558R|PEX5L_uc011bqh.1_Missense_Mutation_p.P523R NM_016559 NP_057643 Q8IYB4 PEX5R_HUMAN peroxisomal biogenesis factor 5-like 582 protein import into peroxisome matrix|regulation of cAMP-mediated signaling cytosol|peroxisomal membrane peroxisome matrix targeting signal-1 binding ovary(3)|large_intestine(1) 4 all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183) OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518) TGCAGGATGAGGAACTTGCTG 0.463 NA 76 189 0 0 0.01441 0 0 KDR 3791 broad.mit.edu 37 4 55955043 55955043 + Missense_Mutation SNP C C T TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01D-1489-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 2e4532d8-cebf-4bdf-95d0-5c02f94d186e g.chr4:55955043C>T uc003has.2 - 26 3804 c.3502G>A c.(3502-3504)GCT>ACT p.A1168T KDR_uc003hat.1_Missense_Mutation_p.A1168T NM_002253 NP_002244 P35968 VGFR2_HUMAN kinase insert domain receptor precursor 1168 Cytoplasmic (Potential). 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) ACCTGCTGAGCATTAGCTTGC 0.502 NA Mis NSCLC|angiosarcoma Familial_Infantile_Hemangioma TSP Lung(20;0.16) 11 29 0 0 0.010729 0 0 IQGAP2 10788 broad.mit.edu 37 5 75936794 75936794 + Nonsense_Mutation SNP G G T TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01D-1489-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 2e4532d8-cebf-4bdf-95d0-5c02f94d186e g.chr5:75936794G>T uc003kek.2 + 17 2182 c.1960G>T c.(1960-1962)GAG>TAG p.E654* IQGAP2_uc010izv.2_Nonsense_Mutation_p.E207*|IQGAP2_uc011csv.1_Intron|IQGAP2_uc003kel.2_Intron NM_006633 NP_006624 Q13576 IQGA2_HUMAN IQ motif containing GTPase activating protein 2 654 small GTPase mediated signal transduction actin cytoskeleton actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity ovary(6)|central_nervous_system(1) 7 all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149) all cancers(79;1.38e-36) TTACATTCGTGAGAATATATG 0.408 NA 15 59 2.32078e-09 2.94343e-09 0.003163 1 0 VCAN 1462 broad.mit.edu 37 5 82815769 82815769 + Silent SNP T T C TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01D-1489-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 2e4532d8-cebf-4bdf-95d0-5c02f94d186e g.chr5:82815769T>C uc003kii.3 + 7 2000 c.1644T>C c.(1642-1644)TAT>TAC p.Y548Y VCAN_uc003kij.3_Intron|VCAN_uc010jau.2_Silent_p.Y548Y|VCAN_uc003kik.3_Intron NM_004385 NP_004376 P13611 CSPG2_HUMAN versican isoform 1 precursor 548 GAG-alpha (glucosaminoglycan attachment domain). cell adhesion|cell recognition|glial cell migration extracellular space|proteinaceous extracellular matrix calcium ion binding|hyaluronic acid binding|sugar binding ovary(7)|skin(6)|lung(2)|central_nervous_system(1) 16 Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142) OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29) CAGGTCACTATGGATTCACCT 0.408 NA 36 76 0 0 0.017118 0 0 TTC37 9652 broad.mit.edu 37 5 94818288 94818288 + Silent SNP T T C TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01D-1489-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 2e4532d8-cebf-4bdf-95d0-5c02f94d186e g.chr5:94818288T>C uc003klb.2 - 39 4371 c.4101A>G c.(4099-4101)AGA>AGG p.R1367R NM_014639 NP_055454 Q6PGP7 TTC37_HUMAN tetratricopeptide repeat domain 37 1367 binding ovary(3)|pancreas(1) 4 ACTGAACTTGTCTCAAAAGTA 0.388 NA 21 20 0 0 0.012319 0 0 ELL2 22936 broad.mit.edu 37 5 95224622 95224622 + Missense_Mutation SNP T T C TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01D-1489-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 2e4532d8-cebf-4bdf-95d0-5c02f94d186e g.chr5:95224622T>C uc003klr.3 - 12 2226 c.1876A>G c.(1876-1878)AGG>GGG p.R626G NM_012081 NP_036213 O00472 ELL2_HUMAN elongation factor, RNA polymerase II, 2 626 regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter transcription elongation factor complex central_nervous_system(1) 1 all_cancers(142;2.04e-06)|all_epithelial(76;3.1e-09)|all_lung(232;0.00309)|Lung NSC(167;0.00454)|Ovarian(225;0.0165)|Colorectal(57;0.0343)|Breast(839;0.198) all cancers(79;2.16e-15) CCTATTAGCCTTTTGATGTGA 0.343 NA 3 30 0 0 0.009096 0 0 SEMA6A 57556 broad.mit.edu 37 5 115782618 115782618 + Missense_Mutation SNP G G T TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01D-1489-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 2e4532d8-cebf-4bdf-95d0-5c02f94d186e g.chr5:115782618G>T uc010jck.2 - 19 3493 c.2784C>A c.(2782-2784)AGC>AGA p.S928R SEMA6A_uc003krx.3_Missense_Mutation_p.S945R|SEMA6A_uc011cwe.1_Missense_Mutation_p.S307R|SEMA6A_uc003krv.3_Missense_Mutation_p.S355R|SEMA6A_uc003krw.3_Missense_Mutation_p.S405R|SEMA6A_uc010jcj.2_Missense_Mutation_p.S472R NM_020796 NP_065847 Q9H2E6 SEM6A_HUMAN sema domain, transmembrane domain (TM), and 928 Cytoplasmic (Potential). apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis axon|integral to membrane|plasma membrane receptor activity ovary(2) 2 all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203) OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151) TGGCCTGGTGGCTTCTCGTGA 0.557 NA 36 73 1.03484e-13 1.41609e-13 0.005524 1 0 SNCAIP 9627 broad.mit.edu 37 5 121759333 121759333 + Missense_Mutation SNP C C A TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01D-1489-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 2e4532d8-cebf-4bdf-95d0-5c02f94d186e g.chr5:121759333C>A uc003ksw.1 + 4 1107 c.901C>A c.(901-903)CTA>ATA p.L301I SNCAIP_uc011cwl.1_Intron|SNCAIP_uc010jct.2_Missense_Mutation_p.L301I|SNCAIP_uc003ksx.1_Missense_Mutation_p.L348I|SNCAIP_uc003ksy.1_Intron|SNCAIP_uc003ksz.1_Intron|SNCAIP_uc010jcu.2_Intron|SNCAIP_uc011cwm.1_Intron|SNCAIP_uc003kta.1_Intron|SNCAIP_uc010jcv.1_RNA|SNCAIP_uc010jcw.1_Intron|SNCAIP_uc010jcx.1_Missense_Mutation_p.L301I NM_005460 NP_005451 Q9Y6H5 SNCAP_HUMAN synuclein alpha interacting protein 301 cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion cytoplasm|neuronal cell body|nucleolus|presynaptic membrane ubiquitin protein ligase binding ovary(1)|pancreas(1) 2 all_cancers(142;0.00787)|Prostate(80;0.0327) KIRC - Kidney renal clear cell carcinoma(527;0.206) OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232) GGTCAGTGGCCTAAACCGGAC 0.483 NA 43 89 1.00953e-15 1.44483e-15 0.013114 1 0 PCDHA8 56140 broad.mit.edu 37 5 140221181 140221181 + Missense_Mutation SNP G G A TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01D-1489-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 2e4532d8-cebf-4bdf-95d0-5c02f94d186e g.chr5:140221181G>A uc003lhs.2 + 1 275 c.275G>A c.(274-276)CGC>CAC p.R92H PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhr.1_Missense_Mutation_p.R92H NM_018911 NP_061734 Q9Y5H6 PCDA8_HUMAN protocadherin alpha 8 isoform 1 precursor 92 Cadherin 1.|Extracellular (Potential). homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding|protein binding upper_aerodigestive_tract(1)|ovary(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CGGATCGACCGCGAGGAGCTG 0.602 NA 114 367 0 0 0.01441 0 0 PCDHA12 56137 broad.mit.edu 37 5 140256557 140256557 + Silent SNP C C A TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01D-1489-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 2e4532d8-cebf-4bdf-95d0-5c02f94d186e g.chr5:140256557C>A uc003lic.2 + 1 1627 c.1500C>A c.(1498-1500)GGC>GGA p.G500G PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc011daf.1_Silent_p.G500G NM_018903 NP_061726 Q9UN75 PCDAC_HUMAN protocadherin alpha 12 isoform 1 precursor 500 Cadherin 5.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding|protein binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGCGGGTGGGCGAGCACGCAC 0.677 Pancreas(113;759 1672 13322 24104 50104) NA 57 97 5.86059e-21 8.70716e-21 0.01441 1 0 RARS 5917 broad.mit.edu 37 5 167933091 167933091 + Missense_Mutation SNP A A G TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01D-1489-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 2e4532d8-cebf-4bdf-95d0-5c02f94d186e g.chr5:167933091A>G uc003lzx.2 + 10 1164 c.1123A>G c.(1123-1125)ATA>GTA p.I375V RARS_uc011deo.1_Missense_Mutation_p.I169V NM_002887 NP_002878 P54136 SYRC_HUMAN arginyl-tRNA synthetase 375 arginyl-tRNA aminoacylation cytosol|nucleus|soluble fraction arginine-tRNA ligase activity|ATP binding|protein binding ovary(2)|skin(1) 3 Renal(175;0.000159)|Lung NSC(126;0.0875)|all_lung(126;0.166) Medulloblastoma(196;0.0208)|all_neural(177;0.0227) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0693)|Epithelial(171;0.131)|OV - Ovarian serous cystadenocarcinoma(192;0.156) ACCATTAACCATAGTAAAATC 0.358 NA 44 114 0 0 0.013114 0 0 TMEM63B 55362 broad.mit.edu 37 6 44119729 44119729 + Missense_Mutation SNP G G T TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01D-1489-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 2e4532d8-cebf-4bdf-95d0-5c02f94d186e g.chr6:44119729G>T uc003owr.2 + 19 1884 c.1820G>T c.(1819-1821)AGG>ATG p.R607M TMEM63B_uc003ows.2_Missense_Mutation_p.R510M|TMEM63B_uc010jyz.2_RNA NM_018426 NP_060896 Q5T3F8 TM63B_HUMAN transmembrane protein 63B 607 integral to membrane nucleotide binding|protein binding pancreas(2)|central_nervous_system(1) 3 all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0215) GCCGCCGAGAGGCGCAACGTG 0.672 NA OREG0017465 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 23 14 1.39806e-14 1.96483e-14 0.008361 1 0 PAQR8 85315 broad.mit.edu 37 6 52268034 52268034 + Missense_Mutation SNP G G A TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01D-1489-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 2e4532d8-cebf-4bdf-95d0-5c02f94d186e g.chr6:52268034G>A uc003pao.3 + 2 197 c.23G>A c.(22-24)CGC>CAC p.R8H NM_133367 NP_588608 Q8TEZ7 MPRB_HUMAN progestin and adipoQ receptor family member 8 Cytoplasmic (Potential). cell differentiation|multicellular organismal development|oogenesis integral to membrane|plasma membrane receptor activity|steroid binding 0 Lung NSC(77;0.0875) ATCTTGGAGCGCCTGAGCACC 0.622 NA 10 49 0 0 0.013537 0 0 COL12A1 1303 broad.mit.edu 37 6 75841736 75841736 + Missense_Mutation SNP G G A TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01D-1489-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 2e4532d8-cebf-4bdf-95d0-5c02f94d186e g.chr6:75841736G>A uc003phs.2 - 35 6023 c.5857C>T c.(5857-5859)CGC>TGC p.R1953C COL12A1_uc003pht.2_Missense_Mutation_p.R789C NM_004370 NP_004361 Q99715 COCA1_HUMAN collagen, type XII, alpha 1 long isoform 1953 Fibronectin type-III 15. cell adhesion|collagen fibril organization|skeletal system development collagen type XII|extracellular space extracellular matrix structural constituent conferring tensile strength ovary(6)|large_intestine(1)|breast(1)|skin(1) 9 GGGTCCCAGCGAACATCGAGG 0.458 NA 14 56 0 0 0.020292 0 0 UBE2CBP 90025 broad.mit.edu 37 6 83775392 83775392 + Nonsense_Mutation SNP C C A TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01D-1489-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 2e4532d8-cebf-4bdf-95d0-5c02f94d186e g.chr6:83775392C>A uc003pjp.2 - 1 154 c.46G>T c.(46-48)GGA>TGA p.G16* UBE2CBP_uc011dyx.1_RNA|UBE2CBP_uc003pjr.2_5'UTR|DOPEY1_uc003pjs.1_5'Flank NM_198920 NP_944602 Q7Z6J8 UB2CB_HUMAN ubiquitin-conjugating enzyme E2C binding 16 cytoplasm ligase activity ovary(1) 1 all_cancers(76;0.000374)|Acute lymphoblastic leukemia(125;3.85e-06)|all_hematologic(105;0.0017)|all_epithelial(107;0.0548) BRCA - Breast invasive adenocarcinoma(397;0.0944) TGCAGCTGTCCCCGCACCTCC 0.672 NA OREG0017550 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 14 16 7.93312e-07 9.44707e-07 0.020292 1 0 HOXA11 3207 broad.mit.edu 37 7 27222458 27222459 + Missense_Mutation DNP TT TT AG TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01D-1489-08 TT TT - - TT TT Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 2e4532d8-cebf-4bdf-95d0-5c02f94d186e g.chr7:27222458_27222459TT>AG uc003syx.2 - 2 970_971 c.898_899AA>CT c.(898-900)AAC>CTC p.N300L HOXA10_uc003syw.3_5'Flank|HOXA11_uc003syy.2_RNA|HOXA11AS_uc003syz.1_5'Flank NM_005523 NP_005514 P31270 HXA11_HUMAN homeobox A11 300 Homeobox. branching involved in ureteric bud morphogenesis|cartilage development involved in endochondral bone morphogenesis|developmental growth|dorsal/ventral pattern formation|mesodermal cell fate specification|positive regulation of cell development|positive regulation of chondrocyte differentiation protein-DNA complex|transcription factor complex sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity lung(1)|breast(1) 2 ACGGTCTCTGTTAATTTTTTTT 0.446 NA T NUP98 CML 49 167 0 0 0.004672 0 0 FAM188B 84182 broad.mit.edu 37 7 30821598 30821598 + Missense_Mutation SNP G G T TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01D-1489-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 2e4532d8-cebf-4bdf-95d0-5c02f94d186e g.chr7:30821598G>T uc003tbt.2 + 3 266 c.189G>T c.(187-189)AAG>AAT p.K63N FAM188B_uc010kwe.2_Missense_Mutation_p.K34N NM_032222 NP_115598 Q4G0A6 F188B_HUMAN hypothetical protein LOC84182 63 0 GATAGGCAAAGGAAAATCCTC 0.363 NA 20 46 2.37509e-13 3.22186e-13 0.010504 1 0 RELN 5649 broad.mit.edu 37 7 103162494 103162494 + Missense_Mutation SNP G G A rs139106600 TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01D-1489-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 2e4532d8-cebf-4bdf-95d0-5c02f94d186e g.chr7:103162494G>A uc003vca.2 - 48 7803 c.7643C>T c.(7642-7644)TCG>TTG p.S2548L RELN_uc010liz.2_Missense_Mutation_p.S2548L NM_005045 NP_005036 P78509 RELN_HUMAN reelin isoform a 2548 axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1) 19 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) AGCCATTCCCGACGCCACGGC 0.488 NSCLC(146;835 1944 15585 22231 52158) NA 56 129 0 0 0.01441 0 0 LRRN3 54674 broad.mit.edu 37 7 110764933 110764933 + Missense_Mutation SNP G G T TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01D-1489-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 2e4532d8-cebf-4bdf-95d0-5c02f94d186e g.chr7:110764933G>T uc003vft.3 + 4 3151 c.2105G>T c.(2104-2106)GGT>GTT p.G702V IMMP2L_uc003vfq.1_Intron|IMMP2L_uc010ljr.1_Intron|IMMP2L_uc003vfr.2_Intron|LRRN3_uc003vfu.3_Missense_Mutation_p.G702V|LRRN3_uc003vfs.3_Missense_Mutation_p.G702V NM_001099660 NP_001093130 Q9H3W5 LRRN3_HUMAN leucine rich repeat neuronal 3 precursor 702 Cytoplasmic (Potential). integral to membrane skin(3)|ovary(2)|pancreas(2)|central_nervous_system(1) 8 UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125) ACTGTTATAGGTTTACCAACA 0.343 NA 3 20 6.4e-05 7.23478e-05 0.004672 1 0 PLXNA4 91584 broad.mit.edu 37 7 132193285 132193285 + Silent SNP C C A TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01D-1489-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 2e4532d8-cebf-4bdf-95d0-5c02f94d186e g.chr7:132193285C>A uc003vra.3 - 2 397 c.168G>T c.(166-168)GTG>GTT p.V56V PLXNA4_uc003vrc.2_Silent_p.V56V|PLXNA4_uc003vrb.2_Silent_p.V56V NM_020911 NP_065962 Q9HCM2 PLXA4_HUMAN plexin A4 isoform 1 56 Extracellular (Potential).|Sema. integral to membrane|intracellular|plasma membrane ovary(1) 1 TCCTCTCATCCACCACCAGGT 0.592 NA 39 91 1.59361e-14 2.21967e-14 0.006999 1 0 LRGUK 136332 broad.mit.edu 37 7 133812255 133812255 + Silent SNP C C T TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01D-1489-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 2e4532d8-cebf-4bdf-95d0-5c02f94d186e g.chr7:133812255C>T uc003vrm.1 + 1 151 c.135C>T c.(133-135)CCC>CCT p.P45P NM_144648 NP_653249 Q96M69 LRGUK_HUMAN leucine-rich repeats and guanylate kinase domain 45 ATP binding|kinase activity lung(2)|skin(2)|kidney(1) 5 GGTCTTTTCCCATGGGGCAGA 0.577 NA 79 165 0 0 0.01441 0 0 HTR5A 3361 broad.mit.edu 37 7 154875952 154875952 + Missense_Mutation SNP G G A TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01D-1489-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 2e4532d8-cebf-4bdf-95d0-5c02f94d186e g.chr7:154875952G>A uc003wlu.1 + 2 893 c.829G>A c.(829-831)GAG>AAG p.E277K NM_024012 NP_076917 P47898 5HT5A_HUMAN 5-hydroxytryptamine receptor 5A 277 Cytoplasmic (By similarity). integral to plasma membrane serotonin receptor activity ovary(2)|large_intestine(1) 3 all_neural(206;0.119) all_hematologic(28;0.0592) OV - Ovarian serous cystadenocarcinoma(82;0.0238) UCEC - Uterine corpus endometrioid carcinoma (81;0.171) CACGTGGCGGGAGCAGAAGGA 0.607 NA 43 54 0 0 0.01441 0 0 CSMD1 64478 broad.mit.edu 37 8 2944626 2944626 + Silent SNP G G T TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01D-1489-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 2e4532d8-cebf-4bdf-95d0-5c02f94d186e g.chr8:2944626G>T uc011kwk.1 - 49 7860 c.7470C>A c.(7468-7470)CTC>CTA p.L2490L CSMD1_uc011kwj.1_Silent_p.L1819L|CSMD1_uc010lrg.2_Silent_p.L558L NM_033225 NP_150094 Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 precursor 2490 Sushi 14.|Extracellular (Potential). integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) TACCCTGGCAGAGTGGCGTGA 0.453 NA 19 22 1.01871e-10 1.34677e-10 0.008871 1 0 RP1L1 94137 broad.mit.edu 37 8 10467287 10467287 + Missense_Mutation SNP G G T TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01D-1489-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 2e4532d8-cebf-4bdf-95d0-5c02f94d186e g.chr8:10467287G>T uc003wtc.2 - 4 4550 c.4321C>A c.(4321-4323)CCG>ACG p.P1441T NM_178857 NP_849188 Q8IWN7 RP1L1_HUMAN retinitis pigmentosa 1-like 1 1441 intracellular signal transduction ovary(4)|breast(3)|central_nervous_system(1) 8 COAD - Colon adenocarcinoma(149;0.0811) GCGGGGCACGGCTCTGCAGAG 0.627 NA 250 481 1.45934e-97 2.47454e-97 0.01441 1 0 XPO7 23039 broad.mit.edu 37 8 21853061 21853061 + Missense_Mutation SNP G G T TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01D-1489-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 2e4532d8-cebf-4bdf-95d0-5c02f94d186e g.chr8:21853061G>T uc003xaa.3 + 21 2398 c.2296G>T c.(2296-2298)GCC>TCC p.A766S XPO7_uc010lti.2_Missense_Mutation_p.A775S|XPO7_uc010ltk.2_Missense_Mutation_p.A767S NM_015024 NP_055839 Q9UIA9 XPO7_HUMAN exportin 7 isoform b 766 mRNA transport|protein export from nucleus|transmembrane transport cytoplasm|nuclear pore nuclear export signal receptor activity|protein transporter activity ovary(1)|kidney(1)|breast(1)|central_nervous_system(1)|pancreas(1) 5 Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724) CCATGATCCAGCCTGTACTAC 0.448 NA 13 28 0.000219431 0.00023938 0.020292 1 0 SNTG1 54212 broad.mit.edu 37 8 51617263 51617264 + Missense_Mutation DNP GG GG TT TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01D-1489-08 GG GG - - GG GG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 2e4532d8-cebf-4bdf-95d0-5c02f94d186e g.chr8:51617263_51617264GG>TT uc010lxy.1 + 17 1513_1514 c.1142_1143GG>TT c.(1141-1143)TGG>TTT p.W381F SNTG1_uc003xqs.1_Missense_Mutation_p.W381F|SNTG1_uc010lxz.1_Missense_Mutation_p.W381F|SNTG1_uc011ldl.1_RNA NM_018967 NP_061840 Q9NSN8 SNTG1_HUMAN syntrophin, gamma 1 381 PH. 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) CTCGCCCAGTGGGAAAGAGCCT 0.554 NA 17 55 0 0 0.004672 0 0 GEM 2669 broad.mit.edu 37 8 95272446 95272446 + Missense_Mutation SNP C C A TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01D-1489-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 2e4532d8-cebf-4bdf-95d0-5c02f94d186e g.chr8:95272446C>A uc003ygj.2 - 2 535 c.286G>T c.(286-288)GCA>TCA p.A96S GEM_uc003ygi.2_Missense_Mutation_p.A96S NM_005261 NP_005252 P55040 GEM_HUMAN GTP-binding mitogen-induced T-cell protein 96 cell surface receptor linked signaling pathway|immune response|small GTPase mediated signal transduction internal side of plasma membrane calmodulin binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding lung(1) 1 Breast(36;4.65e-06) Myeloproliferative disorder(644;0.204) BRCA - Breast invasive adenocarcinoma(8;0.00691) TGCACACCTGCAAAGATGTTG 0.592 GBM(125;80 1653 28655 32188 47338)|Esophageal Squamous(19;97 579 13602 49091 51766) NA 67 147 8.20758e-20 1.19662e-19 0.01441 1 0 C8orf47 203111 broad.mit.edu 37 8 99102146 99102146 + Missense_Mutation SNP C C T TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01D-1489-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 2e4532d8-cebf-4bdf-95d0-5c02f94d186e g.chr8:99102146C>T uc003yih.1 + 2 1049 c.901C>T c.(901-903)CCT>TCT p.P301S NM_173549 NP_775820 Q6P6B1 CH047_HUMAN hypothetical protein LOC203111 301 Glu-rich. 0 Breast(36;2.31e-06) OV - Ovarian serous cystadenocarcinoma(57;0.214) GCAGATTCAACCTGAAGGAAT 0.438 NA 47 87 0 0 0.01441 0 0 ADCY8 114 broad.mit.edu 37 8 131792870 131792870 + Silent SNP G G A TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01D-1489-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 2e4532d8-cebf-4bdf-95d0-5c02f94d186e g.chr8:131792870G>A uc003ytd.3 - 18 3778 c.3522C>T c.(3520-3522)GTC>GTT p.V1174V ADCY8_uc010mds.2_Silent_p.V1043V NM_001115 NP_001106 P40145 ADCY8_HUMAN adenylate cyclase 8 1174 Cytoplasmic (Potential). activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|membrane fraction|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding skin(4)|large_intestine(1)|central_nervous_system(1) 6 Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000538) GGTTGGGTTGGACTCTTCCCA 0.522 NA HNSCC(32;0.087) 59 125 0 0 0.01441 0 0 PDCD1LG2 80380 broad.mit.edu 37 9 5522564 5522564 + Silent SNP A A C TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01D-1489-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 2e4532d8-cebf-4bdf-95d0-5c02f94d186e g.chr9:5522564A>C uc003zjg.3 + 2 291 c.18A>C c.(16-18)CTA>CTC p.L6L C9orf46_uc003zjd.2_Intron|PDCD1LG2_uc011lmc.1_Silent_p.L6L|PDCD1LG2_uc011lmd.1_Silent_p.L6L|PDCD1LG2_uc010mhp.1_Silent_p.L6L|PDCD1LG2_uc010mho.1_Silent_p.L6L NM_025239 NP_079515 Q9BQ51 PD1L2_HUMAN programmed cell death 1 ligand 2 precursor 6 immune response|T cell costimulation endomembrane system|extracellular region|integral to membrane|plasma membrane receptor activity 0 all_hematologic(13;0.158) Acute lymphoblastic leukemia(23;0.154) GBM - Glioblastoma multiforme(50;0.000767)|Lung(218;0.112) TCCTCCTGCTAATGTTGAGCC 0.443 NA 8 176 0 0 0.00308 0 0 PTPRD 5789 broad.mit.edu 37 9 8528763 8528763 + Missense_Mutation SNP C C A TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01D-1489-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 2e4532d8-cebf-4bdf-95d0-5c02f94d186e g.chr9:8528763C>A uc003zkk.2 - 14 1080 c.369G>T c.(367-369)AGG>AGT p.R123S PTPRD_uc003zkp.2_Missense_Mutation_p.R123S|PTPRD_uc003zkq.2_Missense_Mutation_p.R123S|PTPRD_uc003zkr.2_Missense_Mutation_p.R123S|PTPRD_uc003zks.2_Missense_Mutation_p.R123S|PTPRD_uc003zkl.2_Missense_Mutation_p.R123S|PTPRD_uc003zkm.2_Missense_Mutation_p.R123S|PTPRD_uc003zkn.2_Missense_Mutation_p.R123S|PTPRD_uc003zko.2_Missense_Mutation_p.R123S|PTPRD_uc003zkt.1_Missense_Mutation_p.R123S NM_002839 NP_002830 P23468 PTPRD_HUMAN protein tyrosine phosphatase, receptor type, D 123 Extracellular (Potential). transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity lung(14)|large_intestine(3)|ovary(2)|breast(2)|urinary_tract(1) 22 all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824) all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119) TAGGGAAGCCCCTGGGAATTT 0.468 NA TSP Lung(15;0.13) 9 38 1.08611e-07 1.33412e-07 0.010729 1 0 NUP188 23511 broad.mit.edu 37 9 131765095 131765095 + Splice_Site SNP G G C TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01D-1489-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 2e4532d8-cebf-4bdf-95d0-5c02f94d186e g.chr9:131765095G>C uc004bws.1 + 37 4160 c.4138_splice c.e37-1 p.T1380_splice NUP188_uc004bwu.2_Splice_Site_p.T723_splice NM_015354 NP_056169 Q5SRE5 NU188_HUMAN nucleoporin 188kDa carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction nuclear pore protein binding ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|kidney(1)|breast(1) 7 TTGTATCTTAGACACCTAGTG 0.557 NA 5 191 0 0 0.014758 0 0 IL13RA2 3598 broad.mit.edu 37 X 114242517 114242517 + Missense_Mutation SNP C C A TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01D-1489-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 2e4532d8-cebf-4bdf-95d0-5c02f94d186e g.chrX:114242517C>A uc004epx.2 - 8 1100 c.975G>T c.(973-975)TGG>TGT p.W325C IL13RA2_uc010nqd.1_Missense_Mutation_p.W325C NM_000640 NP_000631 Q14627 I13R2_HUMAN interleukin 13 receptor, alpha 2 precursor 325 Extracellular (Potential).|WSXWS motif.|Fibronectin type-III 3. extracellular space|integral to membrane|soluble fraction cytokine receptor activity upper_aerodigestive_tract(1)|ovary(1)|lung(1) 3 GTTTATCACTCCACTCACTCC 0.338 NA 16 16 9.16793e-09 1.13508e-08 0.00499 1 0 GLUD2 2747 broad.mit.edu 37 X 120182373 120182374 + Missense_Mutation DNP GG GG TT TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01D-1489-08 GG GG - - GG GG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 2e4532d8-cebf-4bdf-95d0-5c02f94d186e g.chrX:120182373_120182374GG>TT uc004eto.2 + 1 912_913 c.835_836GG>TT c.(835-837)GGG>TTG p.G279L NM_012084 NP_036216 P49448 DHE4_HUMAN glutamate dehydrogenase 2 precursor 279 glutamate biosynthetic process|glutamate catabolic process mitochondrial matrix ADP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|leucine binding pancreas(1) 1 L-Glutamic Acid(DB00142)|NADH(DB00157) TGTCTTCCATGGGATTGAAAAC 0.436 NA 69 67 0 0 0.004672 0 0 Unknown 0 broad.mit.edu 37 X 155254706 155254706 + Missense_Mutation SNP C C T TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01D-1489-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 2e4532d8-cebf-4bdf-95d0-5c02f94d186e g.chrX:155254706C>T uc004fnx.3 + 8 1056 c.602C>T c.(601-603)ACG>ATG p.T201M NM_182905 NP_878908 WAS protein family homolog 1 NA GTGAGAGCCACGAGCCAAGGT 0.637 NA 4 8 0 0 0.014758 0 0 OR2M3 127062 broad.mit.edu 37 1 248367162 248367162 + Frame_Shift_Del DEL G G - TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01D-1489-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 2e4532d8-cebf-4bdf-95d0-5c02f94d186e g.chr1:248367162delG uc010pzg.1 + 1 793 c.793delG c.(793-795)GATfs p.D265fs NM_001004689 NP_001004689 Q8NG83 OR2M3_HUMAN olfactory receptor, family 2, subfamily M, 265 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 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) GCCCACATCTGATCGCTCCCC 0.502 NA 53 128 --- --- --- --- NA NA NA NA NA GNS 2799 broad.mit.edu 37 12 65152963 65152968 + In_Frame_Del DEL CCAGCA CCAGCA - TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01D-1489-08 CCAGCA CCAGCA - - CCAGCA CCAGCA Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 2e4532d8-cebf-4bdf-95d0-5c02f94d186e g.chr12:65152963_65152968delCCAGCA uc001ssg.3 - 1 259_264 c.89_94delTGCTGG c.(88-96)GTGCTGGGC>GGC p.VL30del GNS_uc010ssq.1_In_Frame_Del_p.VL30del|GNS_uc010ssr.1_In_Frame_Del_p.VL30del NM_002076 NP_002067 P15586 GNS_HUMAN glucosamine (N-acetyl)-6-sulfatase precursor 30_31 lysosome metal ion binding|N-acetylglucosamine-6-sulfatase activity|protein binding central_nervous_system(1) 1 Lung NSC(1;7.25e-14)|all_lung(1;1.25e-12) LUAD - Lung adenocarcinoma(6;0.115) GBM - Glioblastoma multiforme(28;0.0435) AGGCAGCCGCCCAGCACCAGCAGTAG 0.723 NA 3 4 --- --- --- --- NA NA NA NA NA MAGEL2 54551 broad.mit.edu 37 15 23889920 23889920 + Frame_Shift_Del DEL G G - TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01D-1489-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 2e4532d8-cebf-4bdf-95d0-5c02f94d186e g.chr15:23889920delG uc001ywj.3 - 1 1256 c.1161delC c.(1159-1161)CCCfs p.P387fs NM_019066 NP_061939 MAGE-like protein 2 0 all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14) all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177) ACACAACTACGGGCAGAGAGC 0.642 NA 21 77 --- --- --- --- NA NA NA NA NA CHD2 1106 broad.mit.edu 37 15 93489385 93489389 + Frame_Shift_Del DEL ATTGC ATTGC - TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01D-1489-08 ATTGC ATTGC - - ATTGC ATTGC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 2e4532d8-cebf-4bdf-95d0-5c02f94d186e g.chr15:93489385_93489389delATTGC uc002bsp.2 + 12 1891_1895 c.1316_1320delATTGC c.(1315-1320)AATTGCfs p.N439fs CHD2_uc002bsn.2_Frame_Shift_Del_p.N439fs|CHD2_uc002bso.1_Frame_Shift_Del_p.N439fs|CHD2_uc010urb.1_Frame_Shift_Del_p.N452fs|CHD2_uc010bof.1_RNA NM_001271 NP_001262 O14647 CHD2_HUMAN chromodomain helicase DNA binding protein 2 439_440 Chromo 2. regulation of transcription from RNA polymerase II promoter nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding ovary(1)|skin(1) 2 Lung NSC(78;0.00976)|all_lung(78;0.016) BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814) AAATTCCAGAATTGCATTGACAGCT 0.429 NA 34 111 --- --- --- --- NA NA NA NA NA OR11H1 81061 broad.mit.edu 37 22 16449040 16449040 + Frame_Shift_Del DEL G G - TCGA-67-3773-01A-01D-1040-01 TCGA-67-3773-10A-01D-1489-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 593cee5f-98b3-4f51-bd9f-3bf3dbb6d1d1 2e4532d8-cebf-4bdf-95d0-5c02f94d186e g.chr22:16449040delG uc011agd.1 - 1 765 c.765delC c.(763-765)ACCfs p.T255fs NM_001005239 NP_001005239 Q8NG94 O11H1_HUMAN olfactory receptor, family 11, subfamily H, 255 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977) all_epithelial(15;0.208) Kidney(3;0.00216)|KIRC - Kidney renal clear cell carcinoma(3;0.00244)|Lung(27;0.0724)|COAD - Colon adenocarcinoma(3;0.211) GAGACCCACAGGTAGAGAAGG 0.443 NA 32 62 --- --- --- --- NA NA NA NA NA