Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_alt_allele validation_method validation_status validation_tumor_sample pox qox pox_cutoff isArtifactMode oxoGCut IMPG1 3617 broad.mit.edu 37 6 76728571 76728571 + Missense_Mutation SNP C C T TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr6:76728571C>T ENST00000369950.3 - 7 860 c.671G>A c.(670-672)aGa>aAa p.R224K IMPG1_ENST00000369963.3_3'UTR NM_001563.2 NP_001554.2 Q17R60 IMPG1_HUMAN interphotoreceptor matrix proteoglycan 1 224 visual perception proteinaceous extracellular matrix extracellular matrix structural constituent|receptor activity breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222) TTCTGTTTCTCTTTCCTGAGT 0.413000 15 3 0 0 0.038395 0 0 PTPRK 5796 broad.mit.edu 37 6 128304508 128304508 + Missense_Mutation SNP C C T TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr6:128304508C>T ENST00000368227.3 - 24 3683 c.3317G>A c.(3316-3318)cGa>cAa p.R1106Q PTPRK_ENST00000532331.1_Missense_Mutation_p.R1111Q|PTPRK_ENST00000368213.5_Missense_Mutation_p.R1095Q|PTPRK_ENST00000368207.3_Missense_Mutation_p.R1121Q|PTPRK_ENST00000368210.3_Missense_Mutation_p.R1107Q|PTPRK_ENST00000368215.3_Missense_Mutation_p.R1088Q|PTPRK_ENST00000368226.4_Missense_Mutation_p.R1089Q Q15262 PTPRK_HUMAN protein tyrosine phosphatase, receptor type, K 1088 Tyrosine-protein phosphatase 1. cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity PTPRK/RSPO3(10) autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 72 all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24) GCAGCCAGTTCGTCCAGCACC 0.383000 14 3 0 0 0.146539 0 0 MARK3 4140 broad.mit.edu 37 14 103871440 103871440 + Missense_Mutation SNP G G A TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr14:103871440G>A ENST00000429436.2 + 2 589 c.79G>A c.(79-81)Gaa>Aaa p.E27K MARK3_ENST00000416682.2_Missense_Mutation_p.E27K|MARK3_ENST00000335102.5_Missense_Mutation_p.E27K|MARK3_ENST00000303622.9_Missense_Mutation_p.E27K|MARK3_ENST00000216288.7_Missense_Mutation_p.E27K|MARK3_ENST00000553942.1_Missense_Mutation_p.E27K|MARK3_ENST00000440884.3_Missense_Mutation_p.E27K NM_001128918.1|NM_001128919.1 NP_001122390.1|NP_001122391.1 P27448 MARK3_HUMAN MAP/microtubule affinity-regulating kinase 3 27 ATP binding|protein binding|protein serine/threonine kinase activity autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 30 Melanoma(154;0.155) Epithelial(46;0.241) TGGGCGTCAAGAAGTTACCTC 0.463000 19 27 0 0 0.043863 0 0 NBPF10 100132406 broad.mit.edu 37 1 145302714 145302714 + Silent SNP A A G rs9424867 TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr1:145302714A>G ENST00000342960.5 + 8 1187 c.1152A>G c.(1150-1152)ttA>ttG p.L384L RP11-458D21.5_ENST00000468030.1_3'UTR|NBPF10_ENST00000369339.2_Silent_p.L113L|NBPF10_ENST00000369338.1_Silent_p.L113L NM_001039703.4 NP_001034792.4 A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 384 p.L113L(3)|p.L384L(3) NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) AGGAGAAGTTACGGGAAGGGA 0.527000 6 71 0 0 0.021553 0 0 KIT 3815 broad.mit.edu 37 4 55564559 55564559 + Silent SNP G G A TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr4:55564559G>A ENST00000288135.5 + 3 544 c.447G>A c.(445-447)aaG>aaA p.K149K NM_000222.2|NM_001093772.1 NP_000213.1|NP_001087241.1 P10721 KIT_HUMAN v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog 149 Ig-like C2-type 2. male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway extracellular space|integral to membrane ATP binding|protein binding|receptor signaling protein tyrosine kinase activity NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1) 6411 all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101) LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209) Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171) Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268) ATTCCCTCAAGGGGTGCCAGG 0.532000 1 """Mis, O""" """GIST, AML, TGCT, mastocytosis, mucosal melanoma""" """GIST, epithelioma""" Piebald trait Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors 19 24 0 0 0.055883 0 0 SLC14A1 6563 broad.mit.edu 37 18 43319189 43319189 + Missense_Mutation SNP G G A TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr18:43319189G>A ENST00000321925.4 + 7 957 c.725G>A c.(724-726)gGg>gAg p.G242E SLC14A1_ENST00000586142.1_Missense_Mutation_p.G242E|SLC14A1_ENST00000436407.3_Missense_Mutation_p.G298E|SLC14A1_ENST00000502059.2_Missense_Mutation_p.G134E|SLC14A1_ENST00000589700.1_Intron|SLC14A1_ENST00000402943.2_Missense_Mutation_p.G137E|RP11-116O18.3_ENST00000589510.1_RNA|RP11-116O18.3_ENST00000586213.1_RNA|SLC14A1_ENST00000415427.3_Missense_Mutation_p.G298E|SLC14A1_ENST00000535474.1_Missense_Mutation_p.G110E NM_001128588.3|NM_001146036.2|NM_015865.6 NP_001122060.3|NP_001139508.2|NP_056949.4 Q13336 UT1_HUMAN solute carrier family 14 (urea transporter), member 1 242 integral to plasma membrane urea transmembrane transporter activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 21 CCATGGACAGGGGGCATTTTC 0.483000 36 33 0 0 0.086207 0 0 BIN2 51411 broad.mit.edu 37 12 51707644 51707644 + Missense_Mutation SNP C C T TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr12:51707644C>T ENST00000267012.4 - 2 186 c.125G>A c.(124-126)cGa>cAa p.R42Q BIN2_ENST00000604560.1_Intron|BIN2_ENST00000452142.2_Missense_Mutation_p.R42Q|BIN2_ENST00000544402.1_Missense_Mutation_p.R16Q NM_016293.2 NP_057377.2 Q9UBW5 BIN2_HUMAN bridging integrator 2 42 BAR. cytoplasm protein binding NS(2)|breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(3) 31 TTGTTCAAATCGTTCATCTTT 0.463000 31 62 0 0 0.064281 0 0 NLRP9 338321 broad.mit.edu 37 19 56244384 56244384 + Silent SNP G G A TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr19:56244384G>A ENST00000332836.2 - 2 840 c.813C>T c.(811-813)ctC>ctT p.L271L NM_176820.2 NP_789790.2 Q7RTR0 NALP9_HUMAN NLR family, pyrin domain containing 9 271 NACHT. cytoplasm ATP binding NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3) 74 Colorectal(82;0.000133)|Ovarian(87;0.133) GBM - Glioblastoma multiforme(193;0.123) ATGCAATAAGGAGAGAGGATT 0.408000 21 28 0 0 0.055883 0 0 SATB2 23314 broad.mit.edu 37 2 200213622 200213622 + Silent SNP C C T TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr2:200213622C>T ENST00000443023.1 - 6 2263 c.798G>A c.(796-798)cgG>cgA p.R266R SATB2_ENST00000428695.1_Silent_p.R207R|SATB2_ENST00000260926.5_Silent_p.R325R|SATB2_ENST00000457245.1_Silent_p.R325R|SATB2_ENST00000417098.1_Silent_p.R325R Q9UPW6 SATB2_HUMAN SATB homeobox 2 325 cytoplasm|nuclear matrix sequence-specific DNA binding transcription factor activity breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 62 GAGCCAGGAGCCGGCTAACGG 0.532000 20 112 0 0 0.069288 0 0 FMN1 342184 broad.mit.edu 37 15 33359296 33359296 + Missense_Mutation SNP C C T TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr15:33359296C>T ENST00000334528.9 - 1 789 c.790G>A c.(790-792)Gaa>Aaa p.E264K FMN1_ENST00000559047.1_Intron|FMN1_ENST00000558197.1_Missense_Mutation_p.E264K|FMN1_ENST00000561249.1_Intron|FMN1_ENST00000559150.1_Intron NM_001103184.2 NP_001096654.1 Q68DA7 FMN1_HUMAN formin 1 389 Microtubule-binding (By similarity). actin cytoskeleton organization actin cytoskeleton|adherens junction|cytoplasm|nucleus actin binding endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3) 29 all_lung(180;1.14e-07) all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262) CCAGAGACTTCTTTTTTAGAA 0.512000 45 57 0 0 0.139131 0 0 IGHV6-1 28385 broad.mit.edu 37 14 106405797 106405797 + RNA SNP G G A TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr14:106405797G>A ENST00000390593.2 - 0 228 GGGACTGCCTGATCCAGTTCC 0.527000 38 61 0 0 0.104719 0 0 SLCO1B3 28234 broad.mit.edu 37 12 21015417 21015417 + Missense_Mutation SNP G G A TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr12:21015417G>A ENST00000381545.3 + 7 772 c.553G>A c.(553-555)Gaa>Aaa p.E185K SLCO1B3_ENST00000553473.1_Missense_Mutation_p.E185K|SLCO1B3_ENST00000261196.2_Missense_Mutation_p.E185K|SLCO1B7_ENST00000554957.1_Intron|LST3_ENST00000540229.1_Missense_Mutation_p.E185K|LST3_ENST00000381541.3_Intron NM_019844.3 NP_062818.1 Q9NPD5 SO1B3_HUMAN solute carrier organic anion transporter family, member 1B3 185 bile acid metabolic process|sodium-independent organic anion transport basolateral plasma membrane|cytoplasm|integral to plasma membrane bile acid transmembrane transporter activity|organic anion transmembrane transporter activity breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2) 63 Esophageal squamous(101;0.149) TGGCATAGGGGAAACCCCCAT 0.373000 27 38 0 0 0.134883 0 0 NBPF1 55672 broad.mit.edu 37 1 16918653 16918653 + Splice_Site SNP C C T TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr1:16918653C>T ENST00000430580.2 - 6 853 c.e6+1 NM_017940.3 NP_060410.2 Q3BBV0 NBPF1_HUMAN neuroblastoma breakpoint family, member 1 cytoplasm UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179) TCTTAACTTACTGTTGTGAAA 0.418000 4 70 0 0 0.009096 0 0 KDM6B 23135 broad.mit.edu 37 17 7752119 7752119 + Missense_Mutation SNP C C T TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr17:7752119C>T ENST00000254846.5 + 11 2902 c.2513C>T c.(2512-2514)tCc>tTc p.S838F KDM6B_ENST00000448097.2_Missense_Mutation_p.S838F NM_001080424.1 NP_001073893.1 O15054 KDM6B_HUMAN lysine (K)-specific demethylase 6B 838 Pro-rich. inflammatory response nucleus metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5) 37 ACTCAGTATTCCCCTGGCCCC 0.647000 45 59 0 0 0.139131 0 0 HSD3B2 3284 broad.mit.edu 37 1 119965160 119965160 + Missense_Mutation SNP G G A TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr1:119965160G>A ENST00000543831.1 + 4 1285 c.1036G>A c.(1036-1038)Gag>Aag p.E346K HSD3B2_ENST00000369416.3_Missense_Mutation_p.E346K NM_001166120.1 NP_001159592.1 P26439 3BHS2_HUMAN hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 346 androgen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane 3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(19)|ovary(2)|skin(1) 27 all_neural(166;0.187) all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284) Lung(183;0.015)|LUSC - Lung squamous cell carcinoma(189;0.0836) NADH(DB00157)|Trilostane(DB01108) CTACAGCTGGGAGGAAGCCAA 0.507000 32 31 0 0 0.045705 0 0 USP6 9098 broad.mit.edu 37 17 5049436 5049436 + Silent SNP C C T TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr17:5049436C>T ENST00000574788.1 + 28 4516 c.2286C>T c.(2284-2286)atC>atT p.I762I USP6_ENST00000332776.4_Silent_p.I762I|USP6_ENST00000250066.6_Silent_p.I762I|USP6_ENST00000304328.5_Silent_p.I445I P35125 UBP6_HUMAN ubiquitin specific peptidase 6 (Tre-2 oncogene) 762 protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process lysosome|plasma membrane|recycling endosome calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 34 CAGAACAAATCCTACTAGCAG 0.348000 T """COL1A1, CDH11, ZNF9, OMD""" aneurysmal bone cysts 40 75 0 0 0.117977 0 0 CACNA1C 775 broad.mit.edu 37 12 2666141 2666141 + Silent SNP C C T TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr12:2666141C>T ENST00000399655.1 + 11 1771 c.1506C>T c.(1504-1506)ttC>ttT p.F502F CACNA1C_ENST00000399603.1_Silent_p.F502F|CACNA1C_ENST00000399638.1_Silent_p.F502F|CACNA1C_ENST00000402845.3_Silent_p.F502F|CACNA1C_ENST00000399641.1_Silent_p.F502F|CACNA1C_ENST00000399601.1_Silent_p.F502F|CACNA1C_ENST00000399597.1_Silent_p.F502F|CACNA1C_ENST00000347598.4_Silent_p.F502F|CACNA1C_ENST00000335762.5_Silent_p.F527F|CACNA1C_ENST00000399621.1_Silent_p.F502F|CACNA1C_ENST00000344100.3_Silent_p.F502F|CACNA1C_ENST00000399591.1_Silent_p.F502F|CACNA1C_ENST00000399649.1_Silent_p.F502F|CACNA1C_ENST00000491104.1_3'UTR|CACNA1C_ENST00000399629.1_Silent_p.F502F|CACNA1C_ENST00000406454.3_Silent_p.F502F|CACNA1C_ENST00000399644.1_Silent_p.F502F|CACNA1C_ENST00000399617.1_Silent_p.F502F|CACNA1C_ENST00000327702.7_Silent_p.F502F|CACNA1C_ENST00000399595.1_Silent_p.F502F|CACNA1C_ENST00000399606.1_Silent_p.F502F|CACNA1C_ENST00000399634.1_Silent_p.F502F|CACNA1C_ENST00000480911.1_Silent_p.F502F|CACNA1C_ENST00000399637.1_Silent_p.F502F NM_000719.6|NM_001129829.1|NM_001129834.1 NP_000710.5|NP_001123301.1|NP_001123306.1 Q13936 CAC1C_HUMAN calcium channel, voltage-dependent, L type, alpha 1C subunit 502 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 NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4) 132 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) AGTCAAAGTTCAGGTGAGTGA 0.498000 18 28 0 0 0.043863 0 0 PEX12 5193 broad.mit.edu 37 17 33904985 33904985 + Missense_Mutation SNP G G A TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr17:33904985G>A ENST00000225873.4 - 1 663 c.56C>T c.(55-57)tCc>tTc p.S19F NM_000286.2 NP_000277.1 O00623 PEX12_HUMAN peroxisomal biogenesis factor 12 19 protein import into peroxisome matrix integral to peroxisomal membrane protein C-terminus binding|zinc ion binding cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(8) 18 UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) CTCAAAGATGGATGGCTGGTC 0.493000 32 40 0 0 0.045705 0 0 CNTLN 54875 broad.mit.edu 37 9 17135129 17135129 + Silent SNP C C T TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr9:17135129C>T ENST00000380647.3 + 1 150 c.66C>T c.(64-66)tcC>tcT p.S22S CNTLN_ENST00000484374.1_3'UTR|CNTLN_ENST00000425824.1_Silent_p.S22S|CNTLN_ENST00000380641.4_Silent_p.S22S|CNTLN_ENST00000262360.5_Silent_p.S22S Q9NXG0 CNTLN_HUMAN centlein, centrosomal protein 22 centriole|membrane two-component sensor activity breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 53 GBM - Glioblastoma multiforme(50;6.14e-10) GCCCCAGGTCCCCACGTGTTG 0.677000 22 29 0 0 0.083992 0 0 MROH5 389690 broad.mit.edu 37 8 142498693 142498693 + RNA SNP G G A TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr8:142498693G>A ENST00000430863.1 - 0 788 NM_207414.2 NP_997297.2 maestro heat-like repeat family member 5 CTTCCTGGCTGAAGAGCTCCT 0.632000 20 25 0 0 0.091800 0 0 PCDHB4 56131 broad.mit.edu 37 5 140501839 140501839 + Missense_Mutation SNP G G A TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr5:140501839G>A ENST00000194152.1 + 1 259 c.259G>A c.(259-261)Gag>Aag p.E87K NM_018938.2 NP_061761.1 Q9Y5E5 PCDB4_HUMAN 87 Cadherin 1. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton calcium ion binding autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 67 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GCTTCTGAGGGAGAAACTAGA 0.522000 26 36 0 0 0.091800 0 0 FLRT1 23769 broad.mit.edu 37 11 63884759 63884759 + Silent SNP G G A TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr11:63884759G>A ENST00000246841.3 + 2 2063 c.1020G>A c.(1018-1020)cgG>cgA p.R340R MACROD1_ENST00000255681.6_Intron NM_013280.4 NP_037412.2 Q9NZU1 FLRT1_HUMAN fibronectin leucine rich transmembrane protein 1 312 LRRCT. cell adhesion integral to plasma membrane|proteinaceous extracellular matrix protein binding, bridging|receptor signaling protein activity breast(1)|endometrium(3)|large_intestine(6)|lung(2)|prostate(1)|urinary_tract(1) 14 TGTGGCTGCGGGACTGGGTGA 0.662000 13 34 0 0 0.105934 0 0 SLITRK6 84189 broad.mit.edu 37 13 86370413 86370413 + Silent SNP C C T TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr13:86370413C>T ENST00000400286.2 - 2 829 c.231G>A c.(229-231)acG>acA p.T77T NM_032229.2 NP_115605.2 Q9H5Y7 SLIK6_HUMAN SLIT and NTRK-like family, member 6 77 integral to membrane breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_neural(89;0.117)|Medulloblastoma(90;0.163) GBM - Glioblastoma multiforme(99;0.0456) TGTGAAGCATCGTCAAGCCGT 0.368000 54 119 0 0 0.139131 0 0 FAM181A 90050 broad.mit.edu 37 14 94394732 94394732 + Missense_Mutation SNP C C T TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr14:94394732C>T ENST00000267594.5 + 3 594 c.287C>T c.(286-288)tCc>tTc p.S96F FAM181A_ENST00000556222.1_Missense_Mutation_p.S34F|FAM181A_ENST00000557000.2_Missense_Mutation_p.S34F|FAM181A_ENST00000557719.1_Missense_Mutation_p.S34F NM_001207073.1|NM_001207074.1|NM_138344.4 NP_001194002.1|NP_001194003.1|NP_612353.3 Q8N9Y4 F181A_HUMAN family with sequence similarity 181, member A 96 cervix(1)|endometrium(2)|large_intestine(8)|lung(4)|prostate(1)|skin(2) 18 TGCCGCCGCTCCGTGGACCAT 0.612000 19 22 0 0 0.049695 0 0 SLC2A10 81031 broad.mit.edu 37 20 45353909 45353909 + Silent SNP C C T TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr20:45353909C>T ENST00000359271.2 + 2 484 c.234C>T c.(232-234)atC>atT p.I78I NM_030777.3 NP_110404.1 O95528 GTR10_HUMAN solute carrier family 2 (facilitated glucose transporter), member 10 78 endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane D-glucose transmembrane transporter activity|sugar:hydrogen symporter activity central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 34 Myeloproliferative disorder(115;0.0122) AGCAAGCCATCCTCGGGAGCA 0.662000 22 43 0 0 0.099896 0 0 ATP2A1 487 broad.mit.edu 37 16 28913196 28913196 + Missense_Mutation SNP G G A TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr16:28913196G>A ENST00000395503.4 + 16 2297 c.2113G>A c.(2113-2115)Gtc>Atc p.V705I ATP2A1_ENST00000536376.1_Missense_Mutation_p.V580I|ATP2A1_ENST00000357084.3_Missense_Mutation_p.V705I NM_004320.4 NP_004311.1 O14983 AT2A1_HUMAN ATPase, Ca++ transporting, cardiac muscle, fast twitch 1 705 apoptosis in response to endoplasmic reticulum stress|apoptotic mitochondrial changes|ATP biosynthetic process|calcium ion import|elevation of endoplasmic reticulum calcium ion concentration|elevation of mitochondrial calcium ion concentration|maintenance of mitochondrion location|negative regulation of striated muscle contraction|platelet activation|positive regulation of fast-twitch skeletal muscle fiber contraction|reduction of endoplasmic reticulum calcium ion concentration|relaxation of skeletal muscle|response to endoplasmic reticulum stress endoplasmic reticulum membrane|ER-Golgi intermediate compartment|H zone|I band|microsome|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum|sarcoplasmic reticulum membrane ATP binding|calcium ion binding|calcium-transporting ATPase activity|protein homodimerization activity breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2) 38 AGGTGATGGCGTCAATGACGC 0.537000 13 9 0 0 0.093190 0 0 ADPRHL2 54936 broad.mit.edu 37 1 36557548 36557548 + Missense_Mutation SNP C C T TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr1:36557548C>T ENST00000373178.4 + 4 584 c.554C>T c.(553-555)tCc>tTc p.S185F NM_017825.2 NP_060295.1 Q9NX46 ARHL2_HUMAN ADP-ribosylhydrolase like 2 185 cytoplasm|nucleus metal ion binding|poly(ADP-ribose) glycohydrolase activity cervix(1)|endometrium(2)|large_intestine(1)|lung(3)|pancreas(1) 8 Myeloproliferative disorder(586;0.0393) CACGCCTCCTCCCTGGGTTAC 0.637000 21 39 0 0 0.076483 0 0 GABRG1 2565 broad.mit.edu 37 4 46066470 46066470 + Missense_Mutation SNP C C T TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr4:46066470C>T ENST00000295452.4 - 5 780 c.613G>A c.(613-615)Gaa>Aaa p.E205K NM_173536.3 NP_775807.2 Q8N1C3 GBRG1_HUMAN gamma-aminobutyric acid (GABA) A receptor, gamma 1 205 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 76 Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23) CTTGAAAATTCCAGTGGACAG 0.274000 42 50 0 0 0.139131 0 0 DAB2 1601 broad.mit.edu 37 5 39383036 39383036 + Missense_Mutation SNP T T A TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr5:39383036T>A ENST00000545653.1 - 9 1492 c.962A>T c.(961-963)tAc>tTc p.Y321F DAB2_ENST00000509337.1_Missense_Mutation_p.Y321F|DAB2_ENST00000339788.6_Intron|DAB2_ENST00000320816.6_Missense_Mutation_p.Y342F NM_001244871.1 NP_001231800.1 P98082 DAB2_HUMAN Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila) 342 cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway clathrin coated vesicle membrane|coated pit protein C-terminus binding autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(9)|lung(19)|prostate(2)|skin(4)|upper_aerodigestive_tract(2) 47 all_lung(31;0.000197) Epithelial(62;0.137) CTGACCAAAGTAGTCAACATC 0.493000 28 40 0 0 0.125774 0 0 WRNIP1 56897 broad.mit.edu 37 6 2783732 2783732 + Missense_Mutation SNP G G A TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr6:2783732G>A ENST00000380769.4 + 5 1150 c.919G>A c.(919-921)Gag>Aag p.E307K WRNIP1_ENST00000380771.4_Missense_Mutation_p.E502K|WRNIP1_ENST00000380773.4_Missense_Mutation_p.E527K|WRNIP1_ENST00000380764.1_Missense_Mutation_p.E143K Q96S55 WRIP1_HUMAN Werner helicase interacting protein 1 527 DNA replication|DNA synthesis involved in DNA repair|regulation of DNA-dependent DNA replication initiation mitochondrion|nucleus|perinuclear region of cytoplasm ATP binding|ATPase activity|DNA binding|metal ion binding|protein binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 14 Ovarian(93;0.0412) all_hematologic(90;0.0895) TCGCATGCTCGAGGGAGGAGA 0.602000 16 41 0 0 0.038395 0 0 COL4A1 1282 broad.mit.edu 37 13 110850940 110850940 + Missense_Mutation SNP G G A TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr13:110850940G>A ENST00000375820.4 - 21 1280 c.1159C>T c.(1159-1161)Cct>Tct p.P387S COL4A1_ENST00000543140.1_Missense_Mutation_p.P387S NM_001845.4 NP_001836.2 P02462 CO4A1_HUMAN collagen, type IV, alpha 1 387 Triple-helical region. angiogenesis|axon guidance extracellular matrix structural constituent|platelet-derived growth factor binding breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 105 all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604) Breast(118;0.2) BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145) CTTTCACCAGGGAAGCCAGGG 0.572000 35 87 0 0 0.092188 0 0 TRPC6 7225 broad.mit.edu 37 11 101375367 101375367 + Silent SNP G G A TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr11:101375367G>A ENST00000344327.3 - 2 757 c.333C>T c.(331-333)atC>atT p.I111I TRPC6_ENST00000348423.4_Silent_p.I111I|TRPC6_ENST00000532133.1_Silent_p.I111I|TRPC6_ENST00000360497.4_Silent_p.I111I NM_004621.5 NP_004612.2 Q9Y210 TRPC6_HUMAN transient receptor potential cation channel, subfamily C, member 6 111 axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity integral to membrane|plasma membrane protein binding autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162) BRCA - Breast invasive adenocarcinoma(274;0.0442) GCACCACTGGGATGTTACCAT 0.478000 49 42 0 0 0.139131 0 0 IL12RB1 3594 broad.mit.edu 37 19 18193075 18193075 + Splice_Site SNP C C T TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr19:18193075C>T ENST00000600835.1 - 4 428 c.e4-1 IL12RB1_ENST00000593993.1_Splice_Site|IL12RB1_ENST00000322153.6_Splice_Site|IL12RB1_ENST00000430026.2_Splice_Site P42701 I12R1_HUMAN interleukin 12 receptor, beta 1 cellular response to interferon-gamma|interleukin-12-mediated signaling pathway|positive regulation of activated T cell proliferation|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of memory T cell differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response interleukin-12 receptor complex|interleukin-23 receptor complex cytokine receptor activity endometrium(1)|kidney(1)|lung(3)|pancreas(1)|skin(2) 8 GAGGCCGAGCCTGGAAGAGAT 0.552000 7 12 0 0 0.038147 0 0 DUSP27 92235 broad.mit.edu 37 1 167097626 167097626 + Silent SNP G G A TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr1:167097626G>A ENST00000361200.2 + 6 3424 c.3258G>A c.(3256-3258)agG>agA p.R1086R DUSP27_ENST00000443333.1_Silent_p.R1086R|DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000271385.5_Silent_p.R1086R Q5VZP5 DUS27_HUMAN dual specificity phosphatase 27 (putative) 1086 protein dephosphorylation protein tyrosine/serine/threonine phosphatase activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3) 89 GAGCCAAGAGGAAGTTCACCC 0.522000 12 17 0 0 0.093190 0 0 JAZF1 221895 broad.mit.edu 37 7 28220173 28220173 + Silent SNP G G A TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr7:28220173G>A ENST00000283928.5 - 1 189 c.24C>T c.(22-24)tcC>tcT p.S8S JAZF1-AS1_ENST00000455963.1_RNA|JAZF1-AS1_ENST00000436758.1_RNA NM_175061.3 NP_778231.2 Q86VZ6 JAZF1_HUMAN JAZF zinc finger 1 8 negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent transcriptional repressor complex nucleic acid binding|transcription corepressor activity|zinc ion binding JAZF1/SUZ12(133) endometrium(1)|large_intestine(1)|lung(4) 6 TGGAGAAGAAGGAGGCGGCGG 0.672000 T SUZ12 endometrial stromal tumours 302 155 0 0 0.139131 0 0 RRP1 8568 broad.mit.edu 37 21 45213219 45213219 + Silent SNP C C T TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr21:45213219C>T ENST00000497547.1 + 4 411 c.294C>T c.(292-294)gcC>gcT p.A98A NM_003683.5 NP_003674.1 P56182 RRP1_HUMAN ribosomal RNA processing 1 98 rRNA processing nucleolus|preribosome, small subunit precursor central_nervous_system(1)|kidney(1)|lung(4)|stomach(2) 8 COAD - Colon adenocarcinoma(84;0.00753)|Colorectal(79;0.0157)|STAD - Stomach adenocarcinoma(101;0.171) TCCTTCAGGCCTTCTGGCAGA 0.597000 47 125 0 0 0.139131 0 0 MUC17 140453 broad.mit.edu 37 7 100686262 100686262 + Silent SNP C C T TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr7:100686262C>T ENST00000306151.4 + 3 11629 c.11565C>T c.(11563-11565)ttC>ttT p.F3855F NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 3855 extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) CCGGTTCATTCTCCATACCTG 0.473000 105 46 0 0 0.139131 0 0 ZNF827 152485 broad.mit.edu 37 4 146807227 146807227 + Silent SNP G G A TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr4:146807227G>A ENST00000508784.1 - 4 1577 c.1350C>T c.(1348-1350)ctC>ctT p.L450L ZNF827_ENST00000513320.1_Silent_p.L100L|ZNF827_ENST00000379448.4_Silent_p.L450L Q17R98 ZN827_HUMAN zinc finger protein 827 450 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 all_hematologic(180;0.151) AACGCATGTGGAGTTTCAGGC 0.552000 23 12 0 0 0.069288 0 0 VPS13D 55187 broad.mit.edu 37 1 12337851 12337851 + Silent SNP G G A TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr1:12337851G>A ENST00000358136.3 + 19 4336 c.4206G>A c.(4204-4206)ttG>ttA p.L1402L VPS13D_ENST00000356315.4_Silent_p.L1402L NM_015378.2 NP_056193.2 Q5THJ4 VP13D_HUMAN vacuolar protein sorting 13 homolog D (S. cerevisiae) 1402 protein localization NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4) 130 Ovarian(185;0.249) Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209) TGGGACACTTGGGACAGATAT 0.428000 29 40 0 0 0.054565 0 0 SLC26A5 375611 broad.mit.edu 37 7 103018182 103018182 + Missense_Mutation SNP G G A TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr7:103018182G>A ENST00000306312.3 - 18 2111 c.1850C>T c.(1849-1851)cCc>cTc p.P617L SLC26A5_ENST00000393729.1_Missense_Mutation_p.P580L|SLC26A5_ENST00000393730.1_Missense_Mutation_p.P585L|SLC26A5_ENST00000393735.2_Intron|SLC26A5_ENST00000393727.1_Missense_Mutation_p.P619L|SLC26A5_ENST00000356767.4_Intron|SLC26A5_ENST00000354356.4_Missense_Mutation_p.P50L|SLC26A5_ENST00000339444.6_Missense_Mutation_p.P617L|SLC26A5_ENST00000432958.2_Missense_Mutation_p.P585L|SLC26A5_ENST00000393723.1_Missense_Mutation_p.P587L NM_198999.2 NP_945350.1 P58743 S26A5_HUMAN solute carrier family 26 (anion exchanger), member 5 617 STAS. regulation of cell shape|sensory perception of sound integral to membrane secondary active sulfate transmembrane transporter activity endometrium(5)|kidney(2)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5) 43 CACTATTGGGGGATATTTTAC 0.403000 19 98 0 0 0.049695 0 0 NRG2 9542 broad.mit.edu 37 5 139231313 139231313 + Missense_Mutation SNP G G A TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr5:139231313G>A ENST00000541337.1 - 7 1679 c.1450C>T c.(1450-1452)Cca>Tca p.P484S NRG2_ENST00000289409.4_Missense_Mutation_p.P544S|NRG2_ENST00000289422.7_Missense_Mutation_p.P558S|NRG2_ENST00000545385.1_Missense_Mutation_p.P552S|CTB-35F21.4_ENST00000504413.1_RNA|NRG2_ENST00000358522.3_Missense_Mutation_p.P552S|NRG2_ENST00000361474.1_Missense_Mutation_p.P550S|NRG2_ENST00000340391.3_Missense_Mutation_p.P347S|NRG2_ENST00000394770.1_3'UTR NM_001184935.1 NP_001171864.1 O14511 NRG2_HUMAN neuregulin 2 550 embryo development extracellular region|integral to membrane|plasma membrane growth factor activity breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1) 25 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ACACATGCTGGGCTGTTGCAT 0.627000 23 30 0 0 0.091800 0 0 MUC16 94025 broad.mit.edu 37 19 9084874 9084874 + Missense_Mutation SNP C C T TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr19:9084874C>T ENST00000397910.4 - 1 7144 c.6941G>A c.(6940-6942)gGa>gAa p.G2314E NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 2314 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 CCTTCTCTCTCCCAGTGTAAT 0.483000 15 13 0 0 0.119110 0 0 UGT2A1 10941 broad.mit.edu 37 4 70512848 70512848 + Missense_Mutation SNP C C T TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr4:70512848C>T ENST00000503640.1 - 1 570 c.515G>A c.(514-516)aGg>aAg p.R172K UGT2A1_ENST00000514019.1_Missense_Mutation_p.R172K|UGT2A1_ENST00000512704.1_Missense_Mutation_p.R172K|UGT2A1_ENST00000286604.4_Missense_Mutation_p.R172K NM_006798.3 NP_006789.2 Q9Y4X1 UD2A1_HUMAN UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus 172 detection of chemical stimulus|sensory perception of smell integral to membrane glucuronosyltransferase activity NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2) 30 TGGAGAAAACCTCAAGGAGTA 0.423000 22 20 0 0 0.062417 0 0 AMER3 205147 broad.mit.edu 37 2 131519903 131519903 + Silent SNP C C T TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr2:131519903C>T ENST00000423981.1 + 2 368 c.258C>T c.(256-258)ttC>ttT p.F86F AMER3_ENST00000321420.4_Silent_p.F86F NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2 NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2 APC membrane recruitment protein 3 GAGCCACCTTCAAACCGGTGC 0.652000 12 10 0 0 0.093190 0 0 TRPV2 51393 broad.mit.edu 37 17 16340149 16340149 + Silent SNP G G A TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr17:16340149G>A ENST00000338560.7 + 15 2640 c.2241G>A c.(2239-2241)gaG>gaA p.E747E TRPV2_ENST00000577397.1_Silent_p.E317E NM_016113.4 NP_057197.2 Q9Y5S1 TRPV2_HUMAN transient receptor potential cation channel, subfamily V, member 2 747 sensory perception integral to plasma membrane|melanosome calcium channel activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|stomach(3) 28 UCEC - Uterine corpus endometrioid carcinoma (92;0.0837) AGGAGGATGAGGATGGTGCCT 0.557000 30 69 0 0 0.064281 0 0 ZMIZ1 57178 broad.mit.edu 37 10 80968157 80968157 + Missense_Mutation SNP C C T TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr10:80968157C>T ENST00000334512.5 + 6 697 c.125C>T c.(124-126)cCa>cTa p.P42L NM_020338.3 NP_065071.1 Q9ULJ6 ZMIZ1_HUMAN zinc finger, MIZ-type containing 1 42 transcription, DNA-dependent cytoplasm|nuclear speck zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1) 30 all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985) Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229) TGCGGAGACCCACGGGCCTTC 0.617000 13 19 0 0 0.146539 0 0 L3MBTL1 26013 broad.mit.edu 37 20 42169606 42169606 + Silent SNP G G A TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr20:42169606G>A ENST00000373135.3 + 19 2289 c.2157G>A c.(2155-2157)ggG>ggA p.G719G L3MBTL1_ENST00000444063.1_3'UTR|L3MBTL1_ENST00000418998.1_Silent_p.G787G|L3MBTL1_ENST00000427442.2_Silent_p.G787G|L3MBTL1_ENST00000373134.1_3'UTR NM_015478.6 NP_056293.4 Q9Y468 LMBL1_HUMAN l(3)mbt-like 1 (Drosophila) 0 SAM. chromatin modification|hemopoiesis|negative regulation of transcription, DNA-dependent|regulation of megakaryocyte differentiation|regulation of mitosis chromatin|condensed chromosome|nucleoplasm identical protein binding|methylated histone residue binding|nucleosomal histone binding|SAM domain binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|large_intestine(3)|ovary(1)|skin(2) 7 ATGTATCTGGGAAGACTCTAG 0.567000 17 43 0 0 0.033300 0 0 ABCA7 10347 broad.mit.edu 37 19 1041569 1041569 + Missense_Mutation SNP C C T rs149348071 TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr19:1041569C>T ENST00000263094.6 + 3 358 c.127C>T c.(127-129)Cgc>Tgc p.R43C ABCA7_ENST00000433129.1_Missense_Mutation_p.R43C NM_019112.3 NP_061985.2 Q8IZY2 ABCA7_HUMAN ATP-binding cassette, sub-family A (ABC1), member 7 43 phagocytosis|transmembrane transport ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane ATP binding|ATPase activity|transporter activity NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 65 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GGTGGCTGTTCGCCACTCCCA 0.627000 28 34 0 0 0.144211 0 0 PITX1 5307 broad.mit.edu 37 5 134364509 134364509 + Missense_Mutation SNP C C T TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr5:134364509C>T ENST00000265340.7 - 3 1321 c.905G>A c.(904-906)gGc>gAc p.G302D PITX1_ENST00000506438.1_Missense_Mutation_p.G302D NM_002653.4 NP_002644.4 P78337 PITX1_HUMAN paired-like homeodomain 1 302 nucleolus sequence-specific DNA binding central_nervous_system(1)|cervix(3)|endometrium(3)|large_intestine(1)|lung(5)|ovary(1) 14 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) READ - Rectum adenocarcinoma(2;0.0607) CGAGGCCGGGCCCTGCAGGCC 0.731000 5 14 0 0 0.014758 0 0 RBM47 54502 broad.mit.edu 37 4 40440476 40440476 + Silent SNP G G A TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr4:40440476G>A ENST00000319592.4 - 4 1144 c.435C>T c.(433-435)tgC>tgT p.C145C RBM47_ENST00000514014.1_Silent_p.C107C|RBM47_ENST00000295971.7_Silent_p.C145C|RBM47_ENST00000381793.2_Silent_p.C145C|RBM47_ENST00000515809.1_Intron|RBM47_ENST00000381795.6_Silent_p.C145C A0AV96 RBM47_HUMAN RNA binding motif protein 47 145 RRM 1. nucleus nucleotide binding|RNA binding breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 29 CCACGCTGCAGCACACGCCGA 0.632000 20 23 0 0 0.062417 0 0 DCDC1 341019 broad.mit.edu 37 11 30902757 30902757 + Silent SNP C C T TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr11:30902757C>T ENST00000597505.1 - 35 5171 c.5172G>A c.(5170-5172)gaG>gaA p.E1724E P59894 DCDC1_HUMAN doublecortin domain containing 1 230 intracellular signal transduction central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1) 31 Lung SC(675;0.225) CCATATCTCGCTCTATGTCGT 0.468000 25 38 0 0 0.099896 0 0 SLC35E2 9906 broad.mit.edu 37 1 1670360 1670360 + Splice_Site SNP C C T TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr1:1670360C>T ENST00000355439.2 - 4 1219 c.e4+1 SLC35E2_ENST00000400924.1_Splice_Site|SLC35E2_ENST00000246421.4_Splice_Site NM_001199787.1 NP_001186716.1 P0CK97 S35E2_HUMAN solute carrier family 35, member E2 integral to membrane endometrium(2)|lung(4)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 9 all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;5.61e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199) AGATTCTTTACCTCATCAGAC 0.468000 5 15 0 0 0.069234 0 0 ANK3 288 broad.mit.edu 37 10 61844949 61844949 + Missense_Mutation SNP C C T TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr10:61844949C>T ENST00000280772.1 - 31 4002 c.3811G>A c.(3811-3813)Gat>Aat p.D1271N ANK3_ENST00000503366.1_Missense_Mutation_p.D1272N|ANK3_ENST00000373827.2_Missense_Mutation_p.D1265N|ANK3_ENST00000355288.2_Missense_Mutation_p.D405N NM_020987.3 NP_066267.2 Q12955 ANK3_HUMAN ankyrin 3, node of Ranvier (ankyrin G) 1271 establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 196 GAGACACAATCTTTTATAAAC 0.388000 16 19 0 0 0.146539 0 0 CTNNB1 1499 broad.mit.edu 37 3 41277853 41277853 + Missense_Mutation SNP C C T TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr3:41277853C>T ENST00000349496.5 + 12 2097 c.1817C>T c.(1816-1818)cCc>cTc p.P606L CTNNB1_ENST00000405570.1_Missense_Mutation_p.P606L|CTNNB1_ENST00000396183.3_Missense_Mutation_p.P606L|CTNNB1_ENST00000453024.1_Missense_Mutation_p.P599L|CTNNB1_ENST00000396185.3_Missense_Mutation_p.P606L NM_001904.3 NP_001895.1 P35222 CTNB1_HUMAN catenin (cadherin-associated protein), beta 1, 88kDa 606 adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding CTNNB1/PLAG1(60) NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8) 3893 KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294) Lithium(DB01356) CTTTATTCTCCCATTGAAAAC 0.453000 15 """H, Mis, T""" PLAG1 """colorectal, cvarian, hepatoblastoma, others, pleomorphic salivary adenoma""" Pilomatrixoma, Familial Clustering of 65 88 0 0 0.139131 0 0 MGAT4B 11282 broad.mit.edu 37 5 179225962 179225962 + Missense_Mutation SNP G G A TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr5:179225962G>A ENST00000337755.5 - 10 2240 c.1354C>T c.(1354-1356)Cgc>Tgc p.R452C MGAT4B_ENST00000292591.7_Missense_Mutation_p.R437C NM_054013.3 NP_463459.1 Q9UQ53 MGT4B_HUMAN mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme B 437 N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)|skin(1)|urinary_tract(1) 13 all_cancers(89;0.000201)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243) all_cancers(40;0.0525)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) AAGCGGAAGCGGATGAAGTCC 0.632000 20 54 0 0 0.062417 0 0 GIMAP6 474344 broad.mit.edu 37 7 150325586 150325586 + Nonsense_Mutation SNP C C A TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr7:150325586C>A ENST00000328902.5 - 3 316 c.100G>T c.(100-102)Gaa>Taa p.E34* GIMAP6_ENST00000493969.1_Intron NM_001244072.1|NM_024711.5 NP_001231001.1|NP_078987.3 Q6P9H5 GIMA6_HUMAN GTPase, IMAP family member 6 34 GTP binding endometrium(4)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 29 OV - Ovarian serous cystadenocarcinoma(82;0.0145) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) GTCTTCTGTTCTTTCTCCCTT 0.527000 72 433 3.89499e-28 4.49341e-28 0.139131 1 0 CAMK4 814 broad.mit.edu 37 5 110710562 110710562 + Silent SNP C C T TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr5:110710562C>T ENST00000282356.4 + 3 653 c.255C>T c.(253-255)atC>atT p.I85I CAMK4_ENST00000512453.1_Silent_p.I85I NM_001744.4 NP_001735.1 Q16566 KCC4_HUMAN calcium/calmodulin-dependent protein kinase IV 85 Protein kinase. activation of phospholipase C activity|nerve growth factor receptor signaling pathway|synaptic transmission cytosol|nucleoplasm ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1) 30 all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244) OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109) ACAAAAAAATCGTAAGAACTG 0.378000 17 24 0 0 0.033300 0 0 CNTNAP4 85445 broad.mit.edu 37 16 76461454 76461454 + Missense_Mutation SNP G G A TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr16:76461454G>A ENST00000307431.8 + 5 878 c.493G>A c.(493-495)Ggc>Agc p.G165S CNTNAP4_ENST00000476707.1_Missense_Mutation_p.G169S|CNTNAP4_ENST00000377504.4_Missense_Mutation_p.G165S|CNTNAP4_ENST00000478060.1_Missense_Mutation_p.G141S|CNTNAP4_ENST00000469589.1_3'UTR NM_033401.3 NP_207837.2 Q9C0A0 CNTP4_HUMAN contactin associated protein-like 4 166 F5/8 type C. cell adhesion|signal transduction integral to membrane receptor binding breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1) 64 GAACCCCAAGGGCAGAATTGG 0.408000 43 56 0 0 0.098360 0 0 TRPC6 7225 broad.mit.edu 37 11 101342100 101342100 + Missense_Mutation SNP C C G TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr11:101342100C>G ENST00000344327.3 - 9 2647 c.2223G>C c.(2221-2223)gaG>gaC p.E741D TRPC6_ENST00000348423.4_Missense_Mutation_p.E625D|TRPC6_ENST00000532133.1_Missense_Mutation_p.E663D|TRPC6_ENST00000360497.4_Missense_Mutation_p.E686D NM_004621.5 NP_004612.2 Q9Y210 TRPC6_HUMAN transient receptor potential cation channel, subfamily C, member 6 741 axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity integral to membrane|plasma membrane protein binding autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162) BRCA - Breast invasive adenocarcinoma(274;0.0442) CAAATTTCCACTCCACATCAG 0.438000 13 51 0 0 0.105934 0 0 FRG1B 284802 broad.mit.edu 37 20 29633900 29633900 + Missense_Mutation SNP A A G rs60081496 by1000genomes TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr20:29633900A>G ENST00000278882.3 + 9 919 c.539A>G c.(538-540)gAa>gGa p.E180G FRG1B_ENST00000358464.4_Missense_Mutation_p.E180G p.E180G(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 TAAACAAGAGAACCAAATTGA 0.264000 3 46 0 0 0.009096 0 0 DYNC1H1 1778 broad.mit.edu 37 14 102483220 102483220 + Missense_Mutation SNP G G A TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr14:102483220G>A ENST00000360184.4 + 38 7896 c.7732G>A c.(7732-7734)Gaa>Aaa p.E2578K NM_001376.4 NP_001367.2 Q14204 DYHC1_HUMAN dynein, cytoplasmic 1, heavy chain 1 2578 AAA 3 (By similarity). cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 166 AGTCCGCCACGAAGCCCTCTT 0.622000 23 22 0 0 0.099896 0 0 EPS15 2060 broad.mit.edu 37 1 51869204 51869204 + Splice_Site SNP C C T TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr1:51869204C>T ENST00000371733.3 - 17 1774 c.1677_splice c.e17-1 p.A560_splice EPS15_ENST00000371730.2_Splice_Site_p.A426_splice|EPS15_ENST00000396122.4_Splice_Site_p.A237_splice|EPS15_ENST00000493793.1_5'UTR NM_001981.2 NP_001972.1 P42566 EPS15_HUMAN epidermal growth factor receptor pathway substrate 15 560 cell proliferation|clathrin coat assembly|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|protein transport cytosol|early endosome membrane calcium ion binding|SH3 domain binding p.0?(2) endometrium(3)|kidney(5)|large_intestine(8)|lung(13)|prostate(2)|skin(1)|stomach(1)|urinary_tract(2) 35 CTACTTCTTGCCTACAAAATA 0.323000 T MLL ALL 17 38 0 0 0.038395 0 0 PDE8B 8622 broad.mit.edu 37 5 76646915 76646915 + Missense_Mutation SNP G G A TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr5:76646915G>A ENST00000264917.5 + 9 1088 c.1043G>A c.(1042-1044)aGa>aAa p.R348K PDE8B_ENST00000346042.3_Intron|PDE8B_ENST00000340978.3_Missense_Mutation_p.R301K|PDE8B_ENST00000333194.4_Missense_Mutation_p.R348K|PDE8B_ENST00000342343.4_Missense_Mutation_p.R328K NM_003719.3 NP_003710.1 O95263 PDE8B_HUMAN phosphodiesterase 8B 348 cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent cytosol 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity GMDS/PDE8B(2) NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(15)|ovary(1)|prostate(2)|skin(3) 40 all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605) OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38) TACTATGCCAGACGGAAATCC 0.507000 142 218 0 0 0.139131 0 0 OVCH1 341350 broad.mit.edu 37 12 29640654 29640654 + Missense_Mutation SNP C C T TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr12:29640654C>T ENST00000318184.5 - 7 863 c.864G>A c.(862-864)atG>atA p.M288I NM_183378.2 NP_899234.2 Q7RTY7 OVCH1_HUMAN ovochymase 1 288 CUB 1.|Peptidase S1 1. proteolysis extracellular region metal ion binding|serine-type endopeptidase activity NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3) 92 Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155) tgataaaatccatcaactcag 0.423000 5 6 0 0 0.014758 0 0 APOL5 80831 broad.mit.edu 37 22 36113929 36113929 + Missense_Mutation SNP G G A TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr22:36113929G>A ENST00000249044.2 + 1 11 c.11G>A c.(10-12)gGc>gAc p.G4D NM_030642.1 NP_085145.1 Q9BWW9 APOL5_HUMAN apolipoprotein L, 5 4 lipid metabolic process|lipid transport|lipoprotein metabolic process cytoplasm|extracellular region high-density lipoprotein particle binding|lipid binding|protein binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|skin(2)|urinary_tract(1) 19 ATGCCATGTGGCAAACAAGGA 0.373000 14 12 0 0 0.038395 0 0 SLC38A4 55089 broad.mit.edu 37 12 47182355 47182355 + Missense_Mutation SNP C C T TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr12:47182355C>T ENST00000447411.1 - 3 372 c.166G>A c.(166-168)Gga>Aga p.G56R SLC38A4_ENST00000266579.4_Missense_Mutation_p.G56R NM_001143824.1 NP_001137296.1 Q969I6 S38A4_HUMAN solute carrier family 38, member 4 56 cellular nitrogen compound metabolic process|sodium ion transport integral to membrane|plasma membrane amino acid transmembrane transporter activity|symporter activity NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|skin(1) 21 Lung SC(27;0.192)|Renal(347;0.236) CCCAAAAATCCATTTGTCAGG 0.383000 20 48 0 0 0.062417 0 0 USP45 85015 broad.mit.edu 37 6 99893858 99893858 + Missense_Mutation SNP G G C TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr6:99893858G>C ENST00000327681.6 - 14 2322 c.1790C>G c.(1789-1791)tCt>tGt p.S597C USP45_ENST00000539675.1_Intron|USP45_ENST00000500704.2_Missense_Mutation_p.S597C|USP45_ENST00000392738.2_Missense_Mutation_p.S277C|USP45_ENST00000369233.2_Missense_Mutation_p.S549C NM_001080481.1 NP_001073950.1 Q70EL2 UBP45_HUMAN ubiquitin specific peptidase 45 597 ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(2)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 22 all_cancers(76;0.000208)|Acute lymphoblastic leukemia(125;8.41e-11)|all_hematologic(75;2.56e-07)|all_epithelial(107;0.122)|Colorectal(196;0.133) BRCA - Breast invasive adenocarcinoma(108;0.0718) GGGACTATAAGACCTCAAATG 0.353000 18 5 0 0 0.033300 0 0 CLVS1 157807 broad.mit.edu 37 8 62289202 62289202 + Missense_Mutation SNP C C T TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr8:62289202C>T ENST00000519846.1 + 4 966 c.494C>T c.(493-495)tCa>tTa p.S165L CLVS1_ENST00000325897.4_Missense_Mutation_p.S165L|CLVS1_ENST00000518592.1_5'UTR Q8IUQ0 CLVS1_HUMAN clavesin 1 165 CRAL-TRIO. lysosome organization clathrin-coated vesicle|early endosome membrane|trans-Golgi network phosphatidylinositol-3,5-bisphosphate binding|transporter activity endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 41 ATCCTGCTGTCATTGGAAGTC 0.448000 34 41 0 0 0.104719 0 0 LEPREL4 10609 broad.mit.edu 37 17 39967158 39967158 + Silent SNP G G T TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr17:39967158G>T ENST00000355468.3 - 4 1210 c.744C>A c.(742-744)gcC>gcA p.A248A LEPREL4_ENST00000393928.1_Silent_p.A248A Q92791 SC65_HUMAN leprecan-like 4 248 synaptonemal complex assembly nucleolus|synaptonemal complex binding endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|urinary_tract(1) 8 CCTGCTCATGGGCCCCTTCAC 0.642000 18 18 8.34094e-07 9.44423e-07 0.049695 1 0 GAD2 2572 broad.mit.edu 37 10 26534872 26534872 + Missense_Mutation SNP G G A TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr10:26534872G>A ENST00000376261.3 + 8 1366 c.863G>A c.(862-864)gGa>gAa p.G288E GAD2_ENST00000259271.3_Missense_Mutation_p.G288E NM_001134366.1 NP_001127838.1 Q05329 DCE2_HUMAN glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa) 288 glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|Golgi membrane|presynaptic membrane glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 L-Glutamic Acid(DB00142) CTCAAGAAGGGAGCTGCAGCC 0.388000 5 15 0 0 0.021553 0 0 BCL11A 53335 broad.mit.edu 37 2 60688589 60688589 + Silent SNP C C T TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr2:60688589C>T ENST00000335712.6 - 4 1685 c.1458G>A c.(1456-1458)gaG>gaA p.E486E BCL11A_ENST00000356842.4_Silent_p.E486E|BCL11A_ENST00000537768.1_Silent_p.E155E|BCL11A_ENST00000358510.4_Silent_p.E452E|BCL11A_ENST00000538214.1_Silent_p.E452E|BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000359629.5_Intron NM_022893.3 NP_075044.2 Q9H165 BC11A_HUMAN B-cell CLL/lymphoma 11A (zinc finger protein) 486 Glu-rich. negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 59 LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199) cctcctcttcctcctcgtccc 0.637000 T IGH@ B-CLL 99 81 0 0 0.139131 0 0 ELSPBP1 64100 broad.mit.edu 37 19 48517439 48517439 + Missense_Mutation SNP G G A TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr19:48517439G>A ENST00000339841.2 + 3 260 c.82G>A c.(82-84)Gaa>Aaa p.E28K ELSPBP1_ENST00000597519.1_Intron NM_022142.4 NP_071425.3 Q96BH3 ESPB1_HUMAN epididymal sperm binding protein 1 28 Fibronectin type-II 1. single fertilization extracellular region NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(6) 10 all_cancers(25;8.7e-09)|all_lung(116;1.15e-06)|all_epithelial(76;1.17e-06)|Lung NSC(112;2.56e-06)|all_neural(266;0.0138)|Ovarian(192;0.0261)|Breast(70;0.203) OV - Ovarian serous cystadenocarcinoma(262;0.000253)|all cancers(93;0.00129)|Epithelial(262;0.0314)|GBM - Glioblastoma multiforme(486;0.0606) GATGCATGAGGAATGTGTCTT 0.463000 62 112 0 0 0.139131 0 0 IP6K3 117283 broad.mit.edu 37 6 33690685 33690685 + Missense_Mutation SNP G G A TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr6:33690685G>A ENST00000451316.1 - 7 1580 c.1045C>T c.(1045-1047)Ccc>Tcc p.P349S IP6K3_ENST00000293756.4_Missense_Mutation_p.P349S NM_001142883.1 NP_001136355.1 Q96PC2 IP6K3_HUMAN inositol hexakisphosphate kinase 3 349 inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|protein phosphorylation cytoplasm ATP binding|inositol hexakisphosphate 5-kinase activity|inositol hexakisphosphate 6-kinase activity|inositol trisphosphate 3-kinase activity skin(1) 1 GCTGCCTGGGGAGCCTCGTGA 0.557000 37 108 0 0 0.092188 0 0 INTS5 80789 broad.mit.edu 37 11 62415321 62415321 + Missense_Mutation SNP C C T TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr11:62415321C>T ENST00000330574.2 - 2 2283 c.2231G>A c.(2230-2232)gGg>gAg p.G744E NM_030628.1 NP_085131.1 Q6P9B9 INT5_HUMAN integrator complex subunit 5 744 snRNA processing integral to membrane|integrator complex protein binding breast(1)|endometrium(4)|large_intestine(6)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2) 36 TGACCAAATCCCTCCAGGACC 0.527000 21 28 0 0 0.062417 0 0 HK2 3099 broad.mit.edu 37 2 75108959 75108959 + Silent SNP G G A TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr2:75108959G>A ENST00000290573.2 + 11 2292 c.1692G>A c.(1690-1692)caG>caA p.Q564Q HK2_ENST00000409174.1_Silent_p.Q536Q NM_000189.4 NP_000180.2 P52789 HXK2_HUMAN hexokinase 2 564 Catalytic. apoptotic mitochondrial changes|glucose transport|glycolysis|transmembrane transport cytosol|mitochondrial outer membrane ATP binding|glucokinase activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1) 43 CCATCCCGCAGGAGGTCATGC 0.617000 14 22 0 0 0.105934 0 0 KLHL1 57626 broad.mit.edu 37 13 70281924 70281924 + Missense_Mutation SNP C C T TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr13:70281924C>T ENST00000377844.4 - 10 2779 c.2020G>A c.(2020-2022)Gat>Aat p.D674N KLHL1_ENST00000545028.1_Missense_Mutation_p.D481N NM_020866.2 NP_065917.1 Q9NR64 KLHL1_HUMAN kelch-like family member 1 674 actin cytoskeleton organization cytoplasm|cytoskeleton actin binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1) 84 Breast(118;0.000162) COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211) GTTTTGGGATCATATCTAAAA 0.368000 34 17 0 0 0.064281 0 0 S1PR1 1901 broad.mit.edu 37 1 101705320 101705320 + Silent SNP C C T TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr1:101705320C>T ENST00000305352.6 + 2 1155 c.780C>T c.(778-780)atC>atT p.I260I NM_001400.4 NP_001391.2 P21453 S1PR1_HUMAN sphingosine-1-phosphate receptor 1 260 cell adhesion integral to membrane lysosphingolipid and lysophosphatidic acid receptor activity p.I260I(1) NS(1)|autonomic_ganglia(1)|breast(1)|large_intestine(7)|lung(23)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4) 43 CCGTAATTATCGTCCTGAGCG 0.597000 63 62 0 0 0.139131 0 0 TAS2R41 259287 broad.mit.edu 37 7 143175539 143175539 + Missense_Mutation SNP C C T TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr7:143175539C>T ENST00000408916.1 + 1 574 c.574C>T c.(574-576)Cct>Tct p.P192S EPHA1-AS1_ENST00000429289.1_RNA NM_176883.2 NP_795364.2 P59536 T2R41_HUMAN taste receptor, type 2, member 41 192 sensory perception of taste integral to membrane G-protein coupled receptor activity endometrium(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(2)|skin(1) 18 Melanoma(164;0.15) CTGGTCAATTCCTTTTTCTGT 0.403000 28 71 0 0 0.116897 0 0 CFI 3426 broad.mit.edu 37 4 110662237 110662237 + Nonsense_Mutation SNP T T A TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr4:110662237T>A ENST00000394634.2 - 13 1771 c.1564A>T c.(1564-1566)Aaa>Taa p.K522* CFI_ENST00000512148.1_Nonsense_Mutation_p.K515*|CFI_ENST00000394635.3_Nonsense_Mutation_p.K530* NM_000204.3 NP_000195.2 P05156 CFAI_HUMAN complement factor I 522 Peptidase S1. K -> T (in AHUS3). complement activation, classical pathway|innate immune response|proteolysis extracellular space|membrane scavenger receptor activity|serine-type endopeptidase activity breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|skin(2)|stomach(1) 27 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.000331) GAGTCCCCTTTACAGGCATCG 0.453000 75 113 0 0 0.139131 0 0 OR14J1 442191 broad.mit.edu 37 6 29274491 29274491 + Missense_Mutation SNP G G A TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr6:29274491G>A ENST00000377160.2 + 1 89 c.25G>A c.(25-27)Gga>Aga p.G9R NM_030946.1 NP_112208.1 Q9UGF5 O14J1_HUMAN olfactory receptor, family 14, subfamily J, member 1 9 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(2) 17 TTCAATGAGTGGATTCCTTCT 0.418000 44 115 0 0 0.139131 0 0 MUC16 94025 broad.mit.edu 37 19 9063944 9063944 + Silent SNP C C T TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr19:9063944C>T ENST00000397910.4 - 3 23705 c.23502G>A c.(23500-23502)agG>agA p.R7834R NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 7836 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 CGCTGGACTCCCTCAATCCAG 0.547000 31 41 0 0 0.125774 0 0 MGAT4B 11282 broad.mit.edu 37 5 179225963 179225963 + Silent SNP G G A TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr5:179225963G>A ENST00000337755.5 - 10 2239 c.1353C>T c.(1351-1353)atC>atT p.I451I MGAT4B_ENST00000292591.7_Silent_p.I436I NM_054013.3 NP_463459.1 Q9UQ53 MGT4B_HUMAN mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme B 436 N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)|skin(1)|urinary_tract(1) 13 all_cancers(89;0.000201)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243) all_cancers(40;0.0525)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) AGCGGAAGCGGATGAAGTCCC 0.632000 21 55 0 0 0.069288 0 0 KCNA10 3744 broad.mit.edu 37 1 111060906 111060906 + Silent SNP G G A TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr1:111060906G>A ENST00000369771.2 - 1 891 c.504C>T c.(502-504)ttC>ttT p.F168F NM_005549.2 NP_005540.1 Q16322 KCA10_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 10 168 voltage-gated potassium channel complex intracellular cyclic nucleotide activated cation channel activity|voltage-gated potassium channel activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(3)|skin(1)|urinary_tract(1) 35 all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301) Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134) CCAGCTCATAGAAGGAGATTT 0.483000 30 30 0 0 0.125774 0 0 RB1CC1 9821 broad.mit.edu 37 8 53596543 53596543 + Silent SNP G G A TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr8:53596543G>A ENST00000025008.5 - 4 625 c.102C>T c.(100-102)agC>agT p.S34S RB1CC1_ENST00000521611.1_Intron|RB1CC1_ENST00000539297.1_Silent_p.S34S|RB1CC1_ENST00000435644.2_Silent_p.S34S NM_014781.4 NP_055596.3 Q8TDY2 RBCC1_HUMAN RB1-inducible coiled-coil 1 34 autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nucleus|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex protein binding NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2) 60 all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023) TCTTGTATTTGCTTTGAATGG 0.403000 4 39 0 0 0.009096 0 0 NPY5R 4889 broad.mit.edu 37 4 164271957 164271957 + Missense_Mutation SNP C C T TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr4:164271957C>T ENST00000515560.1 + 4 2054 c.532C>T c.(532-534)Cac>Tac p.H178Y NPY5R_ENST00000506953.1_Missense_Mutation_p.H178Y|NPY5R_ENST00000338566.3_Missense_Mutation_p.H178Y Q15761 NPY5R_HUMAN neuropeptide Y receptor Y5 178 cardiac left ventricle morphogenesis|outflow tract morphogenesis integral to plasma membrane NS(2)|biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(26)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 all_hematologic(180;0.166) Prostate(90;0.109) TCCAGTGTTTCACAGTCTTGT 0.413000 92 101 0 0 0.139131 0 0 MAP6 4135 broad.mit.edu 37 11 75299108 75299108 + Missense_Mutation SNP C C T TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr11:75299108C>T ENST00000304771.3 - 4 2188 c.1438G>A c.(1438-1440)Gag>Aag p.E480K MAP6_ENST00000526689.1_5'UTR|MAP6_ENST00000526740.1_Missense_Mutation_p.E151K|CTD-2530H12.4_ENST00000527803.1_RNA NM_033063.1 NP_149052.1 Q96JE9 MAP6_HUMAN microtubule-associated protein 6 480 Golgi apparatus|microtubule|perinuclear region of cytoplasm calmodulin binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|skin(1)|urinary_tract(1) 19 Ovarian(111;0.11) TTCAGAGGCTCTTGCACCATA 0.517000 73 87 0 0 0.139131 0 0 NEDD4L 23327 broad.mit.edu 37 18 56008975 56008975 + Silent SNP C C T TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr18:56008975C>T ENST00000456986.1 + 15 1560 c.960C>T c.(958-960)atC>atT p.I320I NEDD4L_ENST00000256830.9_Intron|NEDD4L_ENST00000356462.6_Silent_p.I377I|NEDD4L_ENST00000357895.5_Silent_p.I433I|NEDD4L_ENST00000435432.2_Silent_p.I300I|NEDD4L_ENST00000589054.1_Intron|NEDD4L_ENST00000586263.1_Silent_p.I413I|NEDD4L_ENST00000431212.2_Silent_p.I320I|NEDD4L_ENST00000382850.4_Silent_p.I421I|NEDD4L_ENST00000456173.2_Silent_p.I300I|NEDD4L_ENST00000256832.7_Silent_p.I300I|NEDD4L_ENST00000400345.3_Silent_p.I441I NM_001144964.1 NP_001138436.1 Q96PU5 NED4L_HUMAN neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase 441 cellular sodium ion homeostasis|excretion|interspecies interaction between organisms|positive regulation of endocytosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of protein catabolic process|response to metal ion|sodium ion transport|water homeostasis cytoplasm protein binding|sodium channel regulator activity|ubiquitin-protein ligase activity breast(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(11)|ovary(1)|prostate(4) 37 AGCCTCAGATCCGCCGGCCTC 0.517000 6 5 0 0 0.021553 0 0 FSHR 2492 broad.mit.edu 37 2 49191042 49191042 + Silent SNP C C T TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr2:49191042C>T ENST00000406846.2 - 10 1037 c.918G>A c.(916-918)caG>caA p.Q306Q FSHR_ENST00000346173.3_Silent_p.Q244Q|FSHR_ENST00000304421.4_Silent_p.Q280Q|FSHR_ENST00000541117.1_Silent_p.Q42Q NM_000145.3 NP_000136.2 P23945 FSHR_HUMAN follicle stimulating hormone receptor 306 female gamete generation|male gonad development|spermatogenesis integral to membrane|plasma membrane follicle-stimulating hormone receptor activity|protein binding NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 73 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094) GACCCCTAGCCTGAGTCATAT 0.388000 Gonadal Dysgenesis, 46 XX 47 130 0 0 0.139131 0 0 ZNF212 7988 broad.mit.edu 37 7 148947803 148947803 + Missense_Mutation SNP G G C TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr7:148947803G>C ENST00000335870.2 + 3 574 c.446G>C c.(445-447)tGt>tCt p.C149S NM_012256.3 NP_036388.2 Q9UDV6 ZN212_HUMAN zinc finger protein 212 149 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|identical protein binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(4)|ovary(1)|prostate(1) 9 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00171) GATGGCGTCTGTTTCACCGAG 0.502000 19 184 0 0 0.055883 0 0 FOXR1 283150 broad.mit.edu 37 11 118849899 118849899 + Silent SNP C C T TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr11:118849899C>T ENST00000317011.3 + 3 594 c.369C>T c.(367-369)tcC>tcT p.S123S NM_181721.2 NP_859072.1 Q6PIV2 FOXR1_HUMAN forkhead box R1 123 embryo development|organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1) 16 all_hematologic(175;0.0839) Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.62e-05) TTGCCTTTTCCCCCAGCACCT 0.597000 24 28 0 0 0.069288 0 0 KXD1 79036 broad.mit.edu 37 19 18679426 18679426 + Silent SNP G G A TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr19:18679426G>A ENST00000602094.1 + 5 1976 c.516G>A c.(514-516)gaG>gaA p.E172E KXD1_ENST00000595073.1_Silent_p.E172E|KXD1_ENST00000540691.1_Silent_p.E172E|KXD1_ENST00000601630.1_Silent_p.E191E|KXD1_ENST00000599319.1_Silent_p.E172E|AC005253.4_ENST00000593791.1_RNA|KXD1_ENST00000222307.4_Silent_p.E172E|KXD1_ENST00000539106.1_Silent_p.E172E Q9BQD3 CS050_HUMAN KxDL motif containing 1 172 protein binding ATGACGAGGAGATGACGGGCG 0.647000 27 20 0 0 0.091800 0 0 SORL1 6653 broad.mit.edu 37 11 121358779 121358779 + Silent SNP C C T TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr11:121358779C>T ENST00000260197.7 + 4 696 c.567C>T c.(565-567)atC>atT p.I189I SORL1_ENST00000532451.1_3'UTR NM_003105.5 NP_003096.1 Q92673 SORL_HUMAN sortilin-related receptor, L(DLR class) A repeats containing 189 cholesterol metabolic process|lipid transport|receptor-mediated endocytosis integral to plasma membrane|low-density lipoprotein particle low-density lipoprotein particle binding|transmembrane receptor activity NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2) 91 Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113) BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108) ACCTCTGGATCACGTTTGACT 0.517000 71 204 0 0 0.139131 0 0 CTNNA3 29119 broad.mit.edu 37 10 68940135 68940135 + Silent SNP G G A TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr10:68940135G>A ENST00000433211.1 - 7 1161 c.987C>T c.(985-987)atC>atT p.I329I CTNNA3_ENST00000373744.4_Silent_p.I329I|CTNNA3_ENST00000545309.1_Silent_p.I329I|CTNNA3_ENST00000494580.1_5'UTR NM_013266.2 NP_037398.2 Q9UI47 CTNA3_HUMAN catenin (cadherin-associated protein), alpha 3 329 cell-cell adhesion actin cytoskeleton|cytoplasm|fascia adherens cadherin binding|structural molecule activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1) 95 TGCATTCTGCGATAATCCGCT 0.522000 34 30 0 0 0.050027 0 0 PRMT7 54496 broad.mit.edu 37 16 68389640 68389640 + Silent SNP C C T TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr16:68389640C>T ENST00000339507.5 + 17 2495 c.1665C>T c.(1663-1665)ttC>ttT p.F555F PRMT7_ENST00000348497.4_Silent_p.F407F|PRMT7_ENST00000449359.3_Silent_p.F505F|PRMT7_ENST00000441236.1_Silent_p.F505F Q9NVM4 ANM7_HUMAN protein arginine methyltransferase 7 555 cell differentiation|DNA methylation involved in gamete generation|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|spliceosomal snRNP assembly|transcription, DNA-dependent cytosol|nucleus [myelin basic protein]-arginine N-methyltransferase activity|histone methyltransferase activity (H4-R3 specific)|protein-arginine omega-N monomethyltransferase activity|protein-arginine omega-N symmetric methyltransferase activity|ribonucleoprotein binding endometrium(3)|kidney(2)|large_intestine(3)|lung(10)|pancreas(1)|urinary_tract(1) 20 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0155)|Epithelial(162;0.0629) CCCTGGACTTCAGGGAGAGCA 0.667000 3 11 0 0 0.009096 0 0 IQGAP2 10788 broad.mit.edu 37 5 75993836 75993836 + Missense_Mutation SNP C C T TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr5:75993836C>T ENST00000274364.6 + 33 4528 c.4231C>T c.(4231-4233)Cgt>Tgt p.R1411C IQGAP2_ENST00000396234.3_Missense_Mutation_p.R907C|CTD-2384B11.2_ENST00000507514.1_RNA|IQGAP2_ENST00000502745.1_Missense_Mutation_p.R907C|IQGAP2_ENST00000379730.3_Missense_Mutation_p.R913C NM_006633.2 NP_006624.2 Q13576 IQGA2_HUMAN IQ motif containing GTPase activating protein 2 1411 small GTPase mediated signal transduction actin cytoskeleton actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity p.R1411C(1) NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 68 all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149) all cancers(79;1.38e-36) AAGAATCTATCGTAAGCTTCG 0.353000 9 16 0 0 0.069234 0 0 MFSD9 84804 broad.mit.edu 37 2 103353174 103353174 + Silent SNP C C T TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr2:103353174C>T ENST00000258436.5 - 1 139 c.96G>A c.(94-96)gcG>gcA p.A32A NM_032718.3 NP_116107.3 Q8NBP5 MFSD9_HUMAN major facilitator superfamily domain containing 9 32 transmembrane transport integral to membrane|plasma membrane transporter activity breast(3)|large_intestine(7)|liver(1)|lung(6)|ovary(2)|skin(1) 20 CGGCAGCCTCCGCCTCGGTTC 0.657000 35 18 0 0 0.069456 0 0 ADAM10 102 broad.mit.edu 37 15 59009911 59009911 + Missense_Mutation SNP G G A TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr15:59009911G>A ENST00000260408.3 - 2 514 c.71C>T c.(70-72)cCt>cTt p.P24L ADAM10_ENST00000402627.1_Intron|ADAM10_ENST00000561288.1_Intron|ADAM10_ENST00000396140.2_Intron|ADAM10_ENST00000558733.1_5'UTR NM_001110.2 NP_001101.1 O14672 ADA10_HUMAN ADAM metallopeptidase domain 10 24 cell-cell signaling|constitutive protein ectodomain proteolysis|epidermal growth factor receptor signaling pathway|in utero embryonic development|integrin-mediated signaling pathway|monocyte activation|negative regulation of cell adhesion|Notch receptor processing|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of T cell chemotaxis|protein phosphorylation|response to tumor necrosis factor cell surface|endomembrane system|Golgi-associated vesicle|integral to membrane|nucleus|plasma membrane integrin binding|metalloendopeptidase activity|protein homodimerization activity|protein kinase binding|SH3 domain binding|zinc ion binding breast(1)|endometrium(1)|kidney(5)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3) 27 GBM - Glioblastoma multiforme(80;0.202) TTTATTTAAAGGATTCCCATA 0.328000 5 13 0 0 0.021553 0 0 RNF123 63891 broad.mit.edu 37 3 49753393 49753393 + Missense_Mutation SNP C C T TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr3:49753393C>T ENST00000327697.6 + 33 3433 c.3289C>T c.(3289-3291)Ctt>Ttt p.L1097F RNF123_ENST00000433785.1_Missense_Mutation_p.L209F NM_022064.3 NP_071347.2 Q5XPI4 RN123_HUMAN ring finger protein 123 1097 cytoplasm ligase activity|protein binding|zinc ion binding NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 38 BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255) TGAGATATTCCTTGACTGGAC 0.592000 30 41 0 0 0.050027 0 0 LRRC4C 57689 broad.mit.edu 37 11 40136411 40136411 + Missense_Mutation SNP G G A TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr11:40136411G>A ENST00000278198.2 - 2 3395 c.1432C>T c.(1432-1434)Ccc>Tcc p.P478S LRRC4C_ENST00000527150.1_Missense_Mutation_p.P478S|LRRC4C_ENST00000530763.1_Missense_Mutation_p.P478S|LRRC4C_ENST00000528697.1_Missense_Mutation_p.P478S Q9HCJ2 LRC4C_HUMAN leucine rich repeat containing 4C 478 regulation of axonogenesis integral to membrane protein binding NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 86 all_lung(304;0.0575)|Lung NSC(402;0.138) ACTGGAGTGGGACCCACATTG 0.517000 27 29 0 0 0.099896 0 0 DET1 55070 broad.mit.edu 37 15 89073889 89073889 + Missense_Mutation SNP C C T TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr15:89073889C>T ENST00000564406.1 - 3 1241 c.1081G>A c.(1081-1083)Gat>Aat p.D361N DET1_ENST00000444300.1_Missense_Mutation_p.D361N|DET1_ENST00000268148.8_Missense_Mutation_p.D350N NM_017996.3 NP_060466.2 Q7L5Y6 DET1_HUMAN de-etiolated homolog 1 (Arabidopsis) 350 nucleus endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 Lung NSC(78;0.105)|all_lung(78;0.182) BRCA - Breast invasive adenocarcinoma(143;0.188) GTTACTACATCCTCACTAGTG 0.458000 12 38 0 0 0.080935 0 0 MUC3A 4584 broad.mit.edu 37 7 100552614 100552614 + Silent SNP C C T TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr7:100552614C>T ENST00000319509.7 + 1 1365 c.1365C>T c.(1363-1365)atC>atT p.I455I mucin 3A, cell surface associated breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3) 44 TCCCGACCATCCTGAGGACTT 0.567000 165 193 0 0 0.139131 0 0 ABCG4 64137 broad.mit.edu 37 11 119024977 119024977 + Missense_Mutation SNP G G A TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr11:119024977G>A ENST00000307417.3 + 4 728 c.364G>A c.(364-366)Gga>Aga p.G122R ABCG4_ENST00000449422.2_Missense_Mutation_p.G122R|ABCG4_ENST00000531739.1_Missense_Mutation_p.G122R NM_022169.4 NP_071452.2 Q9H172 ABCG4_HUMAN ATP-binding cassette, sub-family G (WHITE), member 4 122 ABC transporter. cholesterol efflux integral to membrane ATP binding|ATPase activity|protein heterodimerization activity|protein homodimerization activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(28)|ovary(2)|prostate(1)|skin(1) 44 all_hematologic(175;0.0977) Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.7e-05) CAGGGAGTCTGGAATGAAGGG 0.547000 12 37 0 0 0.080935 0 0 POM121L9P 29774 broad.mit.edu 37 22 24659734 24659734 + RNA SNP T T C TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr22:24659734T>C ENST00000414583.2 + 0 3259 NR_003714.1 CTCTCTCCTGTGGGAGGGGGG 0.632000 3 12 0 0 0.009096 0 0 NRG3 10718 broad.mit.edu 37 10 84733611 84733611 + Missense_Mutation SNP C C T TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr10:84733611C>T ENST00000372142.2 + 8 963 c.689C>T c.(688-690)cCc>cTc p.P230L NRG3_ENST00000404547.1_Missense_Mutation_p.P451L|NRG3_ENST00000404576.2_Missense_Mutation_p.P255L|NRG3_ENST00000545131.1_Missense_Mutation_p.P101L|NRG3_ENST00000372141.2_Missense_Mutation_p.P451L|NRG3_ENST00000556918.1_Missense_Mutation_p.P281L|NRG3_ENST00000537893.1_Missense_Mutation_p.P101L NM_001165973.1 NP_001159445.1 P56975 NRG3_HUMAN neuregulin 3 451 Ser/Thr-rich. regulation of cell growth extracellular region|integral to plasma membrane growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09) TTTGTCGGCCCCCAGTCATTC 0.502000 24 33 0 0 0.091800 0 0 OR4A15 81328 broad.mit.edu 37 11 55136058 55136058 + Silent SNP G G A rs141225150 byFrequency TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr11:55136058G>A ENST00000314706.3 + 1 699 c.699G>A c.(697-699)gcG>gcA p.A233A NM_001005275.1 NP_001005275.1 Q8NGL6 O4A15_HUMAN olfactory receptor, family 4, subfamily A, member 15 233 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.A233A(1) NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 71 ATGGAGGAGCGATTTGTGCTG 0.413000 50 48 0 0 0.139131 0 0 CELSR1 9620 broad.mit.edu 37 22 46859638 46859638 + Silent SNP G G A rs142490459 byFrequency TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr22:46859638G>A ENST00000262738.3 - 2 4148 c.4149C>T c.(4147-4149)ggC>ggT p.G1383G CELSR1_ENST00000395964.1_Silent_p.G1383G NM_014246.1 NP_055061.1 Q9NYQ6 CELR1_HUMAN cadherin, EGF LAG seven-pass G-type receptor 1 1383 EGF-like 2; calcium-binding. central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway integral to plasma membrane calcium ion binding|G-protein coupled receptor activity|protein dimerization activity breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3) 95 Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766) UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171) AGGTGTAGCCGCCCTCGCGGC 0.682000 9 15 0 0 0.058154 0 0 TELO2 9894 broad.mit.edu 37 16 1545503 1545503 + Silent SNP C C T TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr16:1545503C>T ENST00000262319.6 + 3 771 c.492C>T c.(490-492)ccC>ccT p.P164P NM_016111.3 NP_057195.2 Q9Y4R8 TELO2_HUMAN telomere maintenance 2 164 chromosome, telomeric region|cytoplasm|membrane|nucleus protein binding NS(1)|endometrium(1)|kidney(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1) 19 Hepatocellular(780;0.219) TGGCCCTGCCCGATCACCTGG 0.682000 19 13 0 0 0.062417 0 0 MUC3A 4584 broad.mit.edu 37 7 100606204 100606204 + Missense_Mutation SNP G G A TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr7:100606204G>A ENST00000319509.7 + 3 1720 c.1720G>A c.(1720-1722)Gag>Aag p.E574K mucin 3A, cell surface associated p.E574K(2) breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3) 44 AGATGTAGTGGAGACCGAGGT 0.552000 5 14 0 0 0.021553 0 0 GALNTL5 168391 broad.mit.edu 37 7 151699958 151699958 + Missense_Mutation SNP G G A TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr7:151699958G>A ENST00000392800.2 + 6 1072 c.818G>A c.(817-819)aGg>aAg p.R273K GALNTL5_ENST00000431418.2_Missense_Mutation_p.R273K|GALNTL5_ENST00000483959.1_3'UTR NM_145292.3 NP_660335.2 Q7Z4T8 GLTL5_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 5 273 Golgi membrane|integral to membrane transferase activity, transferring glycosyl groups NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(11)|ovary(2)|prostate(2)|skin(3) 32 all_neural(206;0.187) all_hematologic(28;0.0749) OV - Ovarian serous cystadenocarcinoma(82;0.00427) UCEC - Uterine corpus endometrioid carcinoma (81;0.18)|BRCA - Breast invasive adenocarcinoma(188;0.166) CCTCTTGTAAGGGGAACTTTT 0.438000 60 170 0 0 0.139131 0 0 GLG1 2734 broad.mit.edu 37 16 74496465 74496465 + Missense_Mutation SNP C C T TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr16:74496465C>T ENST00000422840.2 - 21 2854 c.2855G>A c.(2854-2856)gGt>gAt p.G952D GLG1_ENST00000205061.5_Missense_Mutation_p.G952D|GLG1_ENST00000447066.2_Missense_Mutation_p.G941D NM_001145667.1 NP_001139139.1 Q92896 GSLG1_HUMAN golgi glycoprotein 1 952 Golgi membrane|integral to membrane receptor binding breast(2)|cervix(2)|endometrium(6)|kidney(8)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(1) 57 AGTCAGGATACCGTGACAGAA 0.443000 18 35 0 0 0.033300 0 0 FLRT1 23769 broad.mit.edu 37 11 63884758 63884758 + Missense_Mutation SNP G G A TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr11:63884758G>A ENST00000246841.3 + 2 2062 c.1019G>A c.(1018-1020)cGg>cAg p.R340Q MACROD1_ENST00000255681.6_Intron NM_013280.4 NP_037412.2 Q9NZU1 FLRT1_HUMAN fibronectin leucine rich transmembrane protein 1 312 LRRCT. cell adhesion integral to plasma membrane|proteinaceous extracellular matrix protein binding, bridging|receptor signaling protein activity breast(1)|endometrium(3)|large_intestine(6)|lung(2)|prostate(1)|urinary_tract(1) 14 ATGTGGCTGCGGGACTGGGTG 0.657000 14 33 0 0 0.132662 0 0 TENM4 26011 broad.mit.edu 37 11 78440627 78440627 + Missense_Mutation SNP C C T TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr11:78440627C>T ENST00000278550.7 - 22 3662 c.3200G>A c.(3199-3201)cGg>cAg p.R1067Q NM_001098816.2 NP_001092286.2 teneurin transmembrane protein 4 GCCAGGGGTCCGGCTGCTCAG 0.582000 31 44 0 0 0.144211 0 0 POU6F2 11281 broad.mit.edu 37 7 39247072 39247072 + Missense_Mutation SNP C C T rs150551730 TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr7:39247072C>T ENST00000518318.2 + 4 406 c.364C>T c.(364-366)Ctc>Ttc p.L122F POU6F2_ENST00000559001.1_Missense_Mutation_p.L114F|POU6F2_ENST00000403058.1_Missense_Mutation_p.L122F|POU6F2_ENST00000517348.1_3'UTR P78424 PO6F2_HUMAN POU class 6 homeobox 2 122 central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 42 CCAGCCAATCCTCATTCCCTT 0.592000 62 254 0 0 0.139131 0 0 WWC3 55841 broad.mit.edu 37 X 10085462 10085462 + Missense_Mutation SNP C C T TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chrX:10085462C>T ENST00000380861.4 + 11 1754 c.1363C>T c.(1363-1365)Cgc>Tgc p.R455C WWC3_ENST00000454666.1_Missense_Mutation_p.R455C NM_015691.3 NP_056506.2 Q9ULE0 WWC3_HUMAN WWC family member 3 455 Ser-rich. NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 52 GCTGTCCTCCCGCTCCTCGCT 0.711000 14 1 0 0 0.033300 0 0 UGT2B28 54490 broad.mit.edu 37 4 70146547 70146547 + Missense_Mutation SNP C C T TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr4:70146547C>T ENST00000335568.5 + 1 331 c.329C>T c.(328-330)tCa>tTa p.S110L UGT2B28_ENST00000511240.1_Missense_Mutation_p.S110L NM_053039.1 NP_444267.1 Q9BY64 UDB28_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B28 110 xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 31 Flunitrazepam(DB01544) TTATATTTTTCACAAGAACAA 0.294000 45 75 0 0 0.139131 0 0 IGHV3OR16-8 388255 broad.mit.edu 37 16 33020700 33020700 + RNA SNP C C T TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr16:33020700C>T ENST00000565407.2 + 0 108 RP11-19N8.2_ENST00000567619.1_RNA p.S36S(1) CTGGGGGGTCCCTGAGACTGT 0.582000 55 101 0 0 0.139131 0 0 OR52L1 338751 broad.mit.edu 37 11 6007636 6007636 + Silent SNP G G A TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr11:6007636G>A ENST00000332249.4 - 1 579 c.525C>T c.(523-525)atC>atT p.I175I NM_001005173.2 NP_001005173.2 Q8NGH7 O52L1_HUMAN olfactory receptor, family 52, subfamily L, member 1 175 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|pancreas(1)|skin(3)|soft_tissue(1) 30 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;1.98e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135) TGGGGAAGGGGATAAGGAGTA 0.498000 37 53 0 0 0.064281 0 0 ARID1A 8289 broad.mit.edu 37 1 27099360 27099360 + Silent SNP C C T TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr1:27099360C>T ENST00000324856.7 + 14 3968 c.3597C>T c.(3595-3597)ttC>ttT p.F1199F ARID1A_ENST00000457599.2_Silent_p.F1199F|ARID1A_ENST00000374152.2_Silent_p.F816F NM_006015.4 NP_006006.3 O14497 ARI1A_HUMAN AT rich interactive domain 1A (SWI-like) 1199 androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent nBAF complex|npBAF complex|SWI/SNF complex DNA binding|protein binding ARID1A/MAST2_ENST00000361297(2) NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24) 411 all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242) ACTCCACATTCCAGAAGCGGA 0.458000 """Mis, N, F, S, D""" """clear cell ovarian carcinoma, RCC""" 24 28 0 0 0.091800 0 0 RNF182 221687 broad.mit.edu 37 6 13977475 13977475 + Missense_Mutation SNP G G A TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr6:13977475G>A ENST00000488300.1 + 3 648 c.125G>A c.(124-126)aGg>aAg p.R42K RNF182_ENST00000537663.1_Missense_Mutation_p.R42K|RNF182_ENST00000544682.1_Missense_Mutation_p.R42K|RNF182_ENST00000537388.1_Missense_Mutation_p.R42K NM_152737.3 NP_689950.1 Q8N6D2 RN182_HUMAN ring finger protein 182 42 cytoplasm|integral to membrane|intracellular membrane-bounded organelle protein binding|ubiquitin-protein ligase activity|zinc ion binding cervix(1)|large_intestine(7)|liver(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 15 Breast(50;0.00405)|Ovarian(93;0.0964) all_hematologic(90;0.135) Epithelial(50;0.195) TGTTGTCATAGGGTTTGTGCC 0.483000 48 124 0 0 0.139131 0 0 GPR113 165082 broad.mit.edu 37 2 26534719 26534719 + Missense_Mutation SNP G G A TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr2:26534719G>A ENST00000333478.6 - 8 1862 c.1280C>T c.(1279-1281)tCc>tTc p.S427F GPR113_ENST00000421160.2_Missense_Mutation_p.S557F|GPR113_ENST00000459892.1_5'UTR|GPR113_ENST00000311519.1_Missense_Mutation_p.S626F|GPR113_ENST00000541401.1_Missense_Mutation_p.S229F NM_153835.3 NP_722577.2 Q8IZF5 GP113_HUMAN G protein-coupled receptor 113 626 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1) 24 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) AGTAGGGAAGGAGATGCTGTA 0.567000 17 15 0 0 0.146539 0 0 OR6K3 391114 broad.mit.edu 37 1 158686994 158686994 + Silent SNP G G A TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr1:158686994G>A ENST00000368146.1 - 1 959 c.960C>T c.(958-960)ttC>ttT p.F320F OR6K3_ENST00000368145.1_Silent_p.F304F Q8NGY3 OR6K3_HUMAN olfactory receptor, family 6, subfamily K, member 3 320 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.F320L(1) NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1) 41 all_hematologic(112;0.0378) TTTGAAGACAGAACAGTTTTT 0.393000 29 51 0 0 0.054565 0 0 NPY2R 4887 broad.mit.edu 37 4 156136099 156136099 + Silent SNP C C T TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr4:156136099C>T ENST00000329476.3 + 2 1497 c.1008C>T c.(1006-1008)ttC>ttT p.F336F NPY2R_ENST00000506608.1_Silent_p.F336F NM_000910.2 NP_000901.1 P49146 NPY2R_HUMAN neuropeptide Y receptor Y2 336 cardiac left ventricle morphogenesis|inhibition of adenylate cyclase activity by G-protein signaling pathway|locomotory behavior|outflow tract morphogenesis integral to plasma membrane calcium channel regulator activity breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(17)|prostate(1)|skin(5)|urinary_tract(1) 36 all_hematologic(180;0.24) Renal(120;0.0854) GAAAGGCTTTCCTCTCGGCCT 0.498000 32 61 0 0 0.054565 0 0 SLC6A4 6532 broad.mit.edu 37 17 28544223 28544223 + Silent SNP G G A TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr17:28544223G>A ENST00000401766.2 - 5 1310 c.798C>T c.(796-798)atC>atT p.I266I SLC6A4_ENST00000261707.3_Silent_p.I266I P31645 SC6A4_HUMAN solute carrier family 6 (neurotransmitter transporter), member 4 266 response to toxin|serotonin uptake|thalamus development cytosol|endomembrane system|endosome membrane|membrane raft actin filament binding|Rab GTPase binding|serotonin transmembrane transporter activity|serotonin:sodium symporter activity breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(4) 25 Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Doxepin(DB01142)|Duloxetine(DB00476)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Minaprine(DB00805)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phentermine(DB00191)|Protriptyline(DB00344)|Sertraline(DB01104)|Sibutramine(DB01105)|Tegaserod(DB01079)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Zimelidine(DB04832) TGCTGAAGTAGATAACAGTGA 0.612000 41 58 0 0 0.104719 0 0 WFIKKN2 124857 broad.mit.edu 37 17 48917466 48917466 + Missense_Mutation SNP G G A TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr17:48917466G>A ENST00000311378.4 + 2 1345 c.817G>A c.(817-819)Gtc>Atc p.V273I WFIKKN2_ENST00000426127.1_Missense_Mutation_p.V180I|RP11-506D12.5_ENST00000572491.2_RNA NM_175575.5 NP_783165.1 Q8TEU8 WFKN2_HUMAN WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 2 273 Ig-like C2-type. extracellular region metalloendopeptidase inhibitor activity|protein binding|serine-type endopeptidase inhibitor activity cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(13)|ovary(4)|skin(1) 29 BRCA - Breast invasive adenocarcinoma(22;1.09e-08) TGCCCAGCTGGTCATCTATAA 0.602000 34 24 0 0 0.054565 0 0 RP11-146E13.4 0 broad.mit.edu 37 14 19857036 19857036 + RNA SNP A A G TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr14:19857036A>G ENST00000548109.1 + 0 72 CTGGATAATAAAGTTCATCTC 0.373000 4 94 0 0 0.009096 0 0 PTPRH 5794 broad.mit.edu 37 19 55707890 55707890 + Splice_Site SNP C C T TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr19:55707890C>T ENST00000376350.3 - 10 2279 c.2257_splice c.e10+1 p.G753_splice PTPRH_ENST00000263434.5_Splice_Site_p.G575_splice|PTPRH_ENST00000588559.1_5'UTR NM_002842.3 NP_002833.3 Q9HD43 PTPRH_HUMAN protein tyrosine phosphatase, receptor type, H 753 apoptosis cytoplasm|integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2) 67 Renal(1328;0.245) BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.0479) CTCCGCTCACCTGCACTCTCG 0.592000 21 44 0 0 0.083992 0 0 MUC3A 4584 broad.mit.edu 37 7 100606203 100606203 + Silent SNP G G A TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr7:100606203G>A ENST00000319509.7 + 3 1719 c.1719G>A c.(1717-1719)gtG>gtA p.V573V mucin 3A, cell surface associated breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3) 44 CAGATGTAGTGGAGACCGAGG 0.547000 5 14 0 0 0.021553 0 0 DOCK11 139818 broad.mit.edu 37 X 117724265 117724265 + Splice_Site SNP G G A TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chrX:117724265G>A ENST00000276204.6 + 19 2213 c.2139_splice c.e19+1 p.E713_splice DOCK11_ENST00000276202.7_Splice_Site_p.E713_splice Q5JSL3 DOC11_HUMAN dedicator of cytokinesis 11 713 DHR-1. blood coagulation cytosol GTP binding breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1) 84 TCTATGATGAGGTAAAAATAT 0.353000 34 6 0 0 0.064281 0 0 CARD14 79092 broad.mit.edu 37 17 78178894 78178894 + Missense_Mutation SNP G G C rs147954634 TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr17:78178894G>C ENST00000573882.1 + 20 2995 c.2459G>C c.(2458-2460)cGg>cCg p.R820P CARD14_ENST00000344227.2_Missense_Mutation_p.R820P|RP11-334C17.5_ENST00000573346.1_RNA|RP11-334C17.5_ENST00000576824.1_RNA Q9BXL6 CAR14_HUMAN caspase recruitment domain family, member 14 820 Guanylate kinase-like. R -> W (in dbSNP:rs11652075). activation of NF-kappaB-inducing kinase activity|positive regulation of protein phosphorylation|regulation of apoptosis aggresome|cytoplasm|plasma membrane CARD domain binding NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(5)|prostate(1)|skin(1) 23 all_neural(118;0.0952) OV - Ovarian serous cystadenocarcinoma(97;0.017)|BRCA - Breast invasive adenocarcinoma(99;0.0908) ACCCTGGTGCGGCCCCATCGA 0.667000 8 16 0 0 0.047766 0 0 CACNA1F 778 broad.mit.edu 37 X 49061615 49061615 + Silent SNP G G A TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chrX:49061615G>A ENST00000376265.2 - 48 5977 c.5916C>T c.(5914-5916)gcC>gcT p.A1972A CACNA1F_ENST00000376251.1_Silent_p.A1907A|CACNA1F_ENST00000323022.5_Silent_p.A1961A NM_005183.2 NP_005174.2 O60840 CAC1F_HUMAN calcium channel, voltage-dependent, L type, alpha 1F subunit 1972 axon guidance|detection of light stimulus involved in visual perception voltage-gated calcium channel complex protein binding|voltage-gated calcium channel activity autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1) 85 Verapamil(DB00661) CGTGGACGCAGGCCATCTCGT 0.617000 12 1 0 0 0.093190 0 0 CORIN 10699 broad.mit.edu 37 4 47746434 47746434 + Missense_Mutation SNP C C T TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr4:47746434C>T ENST00000273857.4 - 5 783 c.784G>A c.(784-786)Gaa>Aaa p.E262K CORIN_ENST00000504584.1_Missense_Mutation_p.E262K|CORIN_ENST00000508498.1_Missense_Mutation_p.E123K|CORIN_ENST00000502252.1_Missense_Mutation_p.E195K|CORIN_ENST00000505909.1_Missense_Mutation_p.E262K NM_006587.2 NP_006578.2 Q9Y5Q5 CORIN_HUMAN corin, serine peptidase 262 peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide integral to membrane|plasma membrane scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2) 79 TTTCCGTTTTCCTGCTGAGGT 0.378000 48 68 0 0 0.139131 0 0 MRPL40 64976 broad.mit.edu 37 22 19420819 19420819 + Missense_Mutation SNP G G A TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr22:19420819G>A ENST00000333130.3 + 2 738 c.85G>A c.(85-87)Gag>Aag p.E29K MRPL40_ENST00000471259.1_3'UTR|HIRA_ENST00000541063.1_Intron|HIRA_ENST00000546308.1_Intron NM_003776.2 NP_003767.2 Q9NQ50 RM40_HUMAN mitochondrial ribosomal protein L40 29 anatomical structure morphogenesis mitochondrial ribosome|nucleus endometrium(1)|upper_aerodigestive_tract(1) 2 Colorectal(54;0.0993) GCAGCTTAGAGAGACTCACCA 0.493000 17 21 0 0 0.055883 0 0 MMP15 4324 broad.mit.edu 37 16 58073885 58073885 + Missense_Mutation SNP C C T TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr16:58073885C>T ENST00000219271.3 + 4 1332 c.547C>T c.(547-549)Ccc>Tcc p.P183S NM_002428.2 NP_002419.1 P51511 MMP15_HUMAN matrix metallopeptidase 15 (membrane-inserted) 183 protein modification process|proteolysis extracellular matrix|integral to plasma membrane calcium ion binding|enzyme activator activity|metalloendopeptidase activity|protein binding|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 18 CCAGGAGGTGCCCTATGAGGA 0.642000 22 42 0 0 0.069288 0 0 ELP4 26610 broad.mit.edu 37 11 31671743 31671743 + Missense_Mutation SNP T T A TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr11:31671743T>A ENST00000395934.2 + 9 1124 c.1117T>A c.(1117-1119)Tta>Ata p.L373I Z83001.1_ENST00000429821.1_RNA|ELP4_ENST00000350638.5_Missense_Mutation_p.L373I|ELP4_ENST00000379163.5_Missense_Mutation_p.L374I Q96EB1 ELP4_HUMAN elongator acetyltransferase complex subunit 4 373 histone acetylation|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|DNA-directed RNA polymerase II, holoenzyme|Elongator holoenzyme complex|transcription elongation factor complex phosphorylase kinase regulator activity|protein binding breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3) 20 Lung SC(675;0.225) AGCTTTTAAATTAAAAAGGAA 0.269000 20 10 0 0 0.049695 0 0 TKTL2 84076 broad.mit.edu 37 4 164394716 164394716 + Missense_Mutation SNP C C T TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr4:164394716C>T ENST00000280605.3 - 1 331 c.171G>A c.(169-171)atG>atA p.M57I NM_032136.4 NP_115512.3 Q9H0I9 TKTL2_HUMAN transketolase-like 2 57 cytoplasm metal ion binding|transketolase activity breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1) 70 all_hematologic(180;0.166) Prostate(90;0.0959)|all_neural(102;0.223) GTTTATACTTCATCGTGTGGA 0.577000 20 17 0 0 0.043863 0 0 DBI 1622 broad.mit.edu 37 2 120125788 120125788 + Missense_Mutation SNP G G A TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr2:120125788G>A ENST00000542275.1 + 2 301 c.217G>A c.(217-219)Gag>Aag p.E73K DBI_ENST00000535757.1_Missense_Mutation_p.E29K|DBI_ENST00000535617.1_Missense_Mutation_p.E54K|DBI_ENST00000460901.1_3'UTR|DBI_ENST00000355857.3_Missense_Mutation_p.E12K|DBI_ENST00000311521.4_Missense_Mutation_p.E29K|DBI_ENST00000393103.2_Missense_Mutation_p.E13K|DBI_ENST00000409094.1_Missense_Mutation_p.E29K NM_001178017.1 NP_001171488.1 P07108 ACBP_HUMAN diazepam binding inhibitor (GABA receptor modulator, acyl-CoA binding protein) 12 ACB. transport benzodiazepine receptor binding|fatty-acyl-CoA binding kidney(1)|lung(4)|skin(1) 6 AGCTGCAGAGGAGGTTAGGCA 0.507000 63 48 0 0 0.139131 0 0 POLR2A 5430 broad.mit.edu 37 17 7400322 7400322 + Silent SNP C C T rs142508418 TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr17:7400322C>T ENST00000322644.6 + 5 1176 c.777C>T c.(775-777)tcC>tcT p.S259S POLR2A_ENST00000572844.1_Silent_p.S259S NM_000937.4 NP_000928.1 P24928 RPB1_HUMAN polymerase (RNA) II (DNA directed) polypeptide A, 220kDa 259 mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction DNA-directed RNA polymerase II, core complex DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 50 Prostate(122;0.173) CCCCGCTCTCCGTGCGGCCTG 0.607000 13 8 0 0 0.146539 0 0 UGGT1 56886 broad.mit.edu 37 2 128938530 128938530 + Missense_Mutation SNP C C T TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr2:128938530C>T ENST00000375990.3 + 36 4298 c.3895C>T c.(3895-3897)Cgg>Tgg p.R1299W UGGT1_ENST00000259253.6_Missense_Mutation_p.R1323W Q9NYU2 UGGG1_HUMAN UDP-glucose glycoprotein glucosyltransferase 1 1323 Glucosyltransferase (By similarity). 'de novo' posttranslational protein folding|post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum lumen|ER-Golgi intermediate compartment UDP-glucose:glycoprotein glucosyltransferase activity|unfolded protein binding NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 63 CAAATGGCCCCGGTGGCTTCA 0.388000 31 48 0 0 0.144211 0 0 PCDHB4 56131 broad.mit.edu 37 5 140501962 140501962 + Missense_Mutation SNP C C T TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr5:140501962C>T ENST00000194152.1 + 1 382 c.382C>T c.(382-384)Cac>Tac p.H128Y NM_018938.2 NP_061761.1 Q9Y5E5 PCDB4_HUMAN 128 Cadherin 1. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton calcium ion binding autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 67 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CATAAATGATCACTCTCCAAT 0.418000 17 36 0 0 0.038395 0 0 NEDD4L 23327 broad.mit.edu 37 18 56008976 56008976 + Missense_Mutation SNP C C T TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr18:56008976C>T ENST00000456986.1 + 15 1561 c.961C>T c.(961-963)Cgc>Tgc p.R321C NEDD4L_ENST00000256830.9_Intron|NEDD4L_ENST00000356462.6_Missense_Mutation_p.R378C|NEDD4L_ENST00000357895.5_Missense_Mutation_p.R434C|NEDD4L_ENST00000435432.2_Missense_Mutation_p.R301C|NEDD4L_ENST00000589054.1_Intron|NEDD4L_ENST00000586263.1_Missense_Mutation_p.R414C|NEDD4L_ENST00000431212.2_Missense_Mutation_p.R321C|NEDD4L_ENST00000382850.4_Missense_Mutation_p.R422C|NEDD4L_ENST00000456173.2_Missense_Mutation_p.R301C|NEDD4L_ENST00000256832.7_Missense_Mutation_p.R301C|NEDD4L_ENST00000400345.3_Missense_Mutation_p.R442C NM_001144964.1 NP_001138436.1 Q96PU5 NED4L_HUMAN neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase 442 cellular sodium ion homeostasis|excretion|interspecies interaction between organisms|positive regulation of endocytosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of protein catabolic process|response to metal ion|sodium ion transport|water homeostasis cytoplasm protein binding|sodium channel regulator activity|ubiquitin-protein ligase activity breast(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(11)|ovary(1)|prostate(4) 37 GCCTCAGATCCGCCGGCCTCG 0.517000 6 5 0 0 0.021553 0 0 TRANK1 9881 broad.mit.edu 37 3 36893786 36893786 + Missense_Mutation SNP G G A TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr3:36893786G>A ENST00000429976.2 - 13 4715 c.4468C>T c.(4468-4470)Cca>Tca p.P1490S TRANK1_ENST00000301807.6_Missense_Mutation_p.P940S|TRANK1_ENST00000428977.2_Missense_Mutation_p.P940S O15050 TRNK1_HUMAN tetratricopeptide repeat and ankyrin repeat containing 1 1490 DNA repair ATP binding|ATP-dependent DNA helicase activity|DNA binding NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 73 AAAGATTCTGGGAAATAGAAC 0.433000 8 7 0 0 0.047766 0 0 EXOC3L1 283849 broad.mit.edu 37 16 67223040 67223040 + Silent SNP C C T TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr16:67223040C>T ENST00000314586.6 - 3 330 c.90G>A c.(88-90)cgG>cgA p.R30R EXOC3L1_ENST00000562887.1_5'UTR NM_178516.3 NP_848611.2 Q86VI1 EX3L1_HUMAN exocyst complex component 3-like 1 30 Mediates interaction with EXOC2, EXOC4 and EXOC5 (By similarity). exocytosis|peptide hormone secretion exocyst|stored secretory granule|transport vesicle breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 21 GCGCTGCACCCCGGGCCAGCT 0.692000 8 15 0 0 0.058154 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110432830 110432830 + Missense_Mutation SNP G G A TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr8:110432830G>A ENST00000378402.5 + 23 2712 c.2608G>A c.(2608-2610)Ggg>Agg p.G870R NM_177531.4 NP_803875.2 Q86WI1 PKHL1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 870 immune response cytosol|extracellular space|integral to membrane receptor activity NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4) 263 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) CAAAACAAATGGGCCAACTAT 0.373000 HNSCC(38;0.096) 26 36 0 0 0.083992 0 0 GLI1 2735 broad.mit.edu 37 12 57865615 57865615 + Missense_Mutation SNP G G A TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr12:57865615G>A ENST00000228682.2 + 12 3183 c.3092G>A c.(3091-3093)gGa>gAa p.G1031E GLI1_ENST00000543426.1_Missense_Mutation_p.G903E|GLI1_ENST00000546141.1_Missense_Mutation_p.G990E NM_005269.2 NP_005260.1 P08151 GLI1_HUMAN GLI family zinc finger 1 1031 epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter cytosol|nucleus transcription regulatory region DNA binding|zinc ion binding NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 69 GBM - Glioblastoma multiforme(3;3.99e-32) CCTCCCGAAGGACAGGTATGT 0.582000 57 88 0 0 0.139131 0 0 ITGA4 3676 broad.mit.edu 37 2 182339762 182339762 + Missense_Mutation SNP C C T TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr2:182339762C>T ENST00000397033.2 + 3 825 c.395C>T c.(394-396)tCc>tTc p.S132F ITGA4_ENST00000478440.1_3'UTR|ITGA4_ENST00000339307.4_Missense_Mutation_p.S132F NM_000885.4 NP_000876.3 P13612 ITA4_HUMAN integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor) 132 blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response integrin complex identical protein binding|receptor activity breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 58 OV - Ovarian serous cystadenocarcinoma(117;0.0593) Natalizumab(DB00108) GTCACACTTTCCAGACAGCCA 0.443000 12 34 0 0 0.119110 0 0 GRHL3 57822 broad.mit.edu 37 1 24669432 24669432 + Missense_Mutation SNP C C T TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr1:24669432C>T ENST00000361548.4 + 11 1566 c.1336C>T c.(1336-1338)Ctt>Ttt p.L446F GRHL3_ENST00000350501.5_Missense_Mutation_p.L446F|GRHL3_ENST00000356046.2_Missense_Mutation_p.L400F|GRHL3_ENST00000342072.4_Missense_Mutation_p.L353F|GRHL3_ENST00000236255.4_Missense_Mutation_p.L451F NM_198173.2 NP_937816.1 Q8TE85 GRHL3_HUMAN grainyhead-like 3 (Drosophila) 446 regulation of actin cytoskeleton organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143) GACGACCTACCTTCGGCCAGA 0.637000 78 101 0 0 0.139131 0 0 IGHG1 3500 broad.mit.edu 37 14 106204156 106204156 + RNA SNP C C T TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr14:106204156C>T ENST00000390548.2 - 0 1142 GCTTCAGGTCCACCACCGAGG 0.667000 19 60 0 0 0.083992 0 0 MYH1 4619 broad.mit.edu 37 17 10399635 10399635 + Missense_Mutation SNP C C T TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr17:10399635C>T ENST00000226207.5 - 34 4982 c.4888G>A c.(4888-4890)Gaa>Aaa p.E1630K CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA NM_005963.3 NP_005954.3 P12882 MYH1_HUMAN myosin, heavy chain 1, skeletal muscle, adult 1630 muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5) 176 AGCTGGATTTCCATTTCATTG 0.498000 67 60 0 0 0.139131 0 0 CROCCP2 84809 broad.mit.edu 37 1 16952963 16952963 + RNA SNP G G A TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr1:16952963G>A ENST00000412962.1 - 0 653 CTTGGTCACGGAGAGCTCGAG 0.617000 8 39 0 0 0.038147 0 0 ZNF248 57209 broad.mit.edu 37 10 38121734 38121734 + Silent SNP G G A rs145831910 TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr10:38121734G>A ENST00000395867.3 - 6 1099 c.549C>T c.(547-549)atC>atT p.I183I ZNF248_ENST00000494133.1_Intron|ZNF248_ENST00000357328.4_Silent_p.I183I|ZNF248_ENST00000374648.3_Intron NM_001267605.1|NM_001267606.1|NM_001267607.1|NM_021045.2 NP_001254534.1|NP_001254535.1|NP_001254536.1|NP_066383.1 Q8NDW4 ZN248_HUMAN zinc finger protein 248 183 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(2)|urinary_tract(1) 20 CTCCAATAGGGATTTTCTCAT 0.343000 21 25 0 0 0.055883 0 0 TPTE 7179 broad.mit.edu 37 21 10920164 10920164 + Splice_Site SNP C C T TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr21:10920164C>T ENST00000298232.7 - 18 1403 c.1035_splice c.e18-1 p.E346_splice TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000361285.4_Splice_Site_p.E364_splice|TPTE_ENST00000342420.5_Splice_Site_p.E326_splice NM_199259.2 NP_954868.1 P56180 TPTE_HUMAN transmembrane phosphatase with tensin homology 364 Phosphatase tensin-type. signal transduction integral to membrane ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1) 130 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) TACAGGCTTTCCTACAAAAAA 0.378000 6 110 0 0 0.038147 0 0 CACNA1S 779 broad.mit.edu 37 1 201046174 201046174 + Silent SNP G G A TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr1:201046174G>A ENST00000362061.3 - 12 1927 c.1701C>T c.(1699-1701)ttC>ttT p.F567F CACNA1S_ENST00000367338.3_Silent_p.F567F NM_000069.2 NP_000060.2 Q13698 CAC1S_HUMAN calcium channel, voltage-dependent, L type, alpha 1S subunit 567 Poly-Leu. axon guidance I band|T-tubule|voltage-gated calcium channel complex high voltage-gated calcium channel activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 102 Magnesium Sulfate(DB00653)|Verapamil(DB00661) CGATGAAGAGGAAGAGCAGCA 0.557000 29 37 0 0 0.144211 0 0 CER1 9350 broad.mit.edu 37 9 14722326 14722326 + Silent SNP C C T rs138557355 TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr9:14722326C>T ENST00000380911.3 - 1 389 c.345G>A c.(343-345)ccG>ccA p.P115P NM_005454.2 NP_005445.1 O95813 CER1_HUMAN cerberus 1, DAN family BMP antagonist 115 BMP signaling pathway extracellular space cytokine activity endometrium(2)|large_intestine(3)|lung(6) 11 GBM - Glioblastoma multiforme(50;3.16e-06) TTCCATCTATCGGCTGGATGA 0.507000 48 74 0 0 0.139131 0 0 RNF123 63891 broad.mit.edu 37 3 49753392 49753392 + Silent SNP C C T TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr3:49753392C>T ENST00000327697.6 + 33 3432 c.3288C>T c.(3286-3288)ttC>ttT p.F1096F RNF123_ENST00000433785.1_Silent_p.F208F NM_022064.3 NP_071347.2 Q5XPI4 RN123_HUMAN ring finger protein 123 1096 cytoplasm ligase activity|protein binding|zinc ion binding NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 38 BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255) CTGAGATATTCCTTGACTGGA 0.592000 30 41 0 0 0.050027 0 0 GJA8 2703 broad.mit.edu 37 1 147380904 147380904 + Silent SNP C C T TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr1:147380904C>T ENST00000240986.4 + 2 875 c.822C>T c.(820-822)atC>atT p.I274I GJA8_ENST00000369235.1_Silent_p.I274I NM_005267.4 NP_005258.2 P48165 CXA8_HUMAN gap junction protein, alpha 8, 50kDa 274 cell communication|visual perception connexon complex|integral to plasma membrane channel activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1) 37 all_hematologic(923;0.0276) AAGAGAAAATCGTTTCCCACT 0.537000 19 39 0 0 0.038395 0 0 MRPL45 84311 broad.mit.edu 37 17 36478143 36478143 + Silent SNP C C T TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr17:36478143C>T ENST00000312513.5 + 7 956 c.795C>T c.(793-795)atC>atT p.I265I NM_032351.4 NP_115727.4 Q9BRJ2 RM45_HUMAN mitochondrial ribosomal protein L45 265 intracellular protein transport|translation mitochondrial inner membrane presequence translocase complex|ribosome P-P-bond-hydrolysis-driven protein transmembrane transporter activity|structural constituent of ribosome breast(3)|endometrium(2)|large_intestine(2)|lung(5)|skin(1) 13 Breast(7;2.97e-12) Breast(25;0.0101)|Ovarian(249;0.15) ATACCAAGATCGTTCCCCCAT 0.502000 OREG0024353 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 24 45 0 0 0.083992 0 0 PCDH15 65217 broad.mit.edu 37 10 55782888 55782888 + Missense_Mutation SNP G G A rs34553661 TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr10:55782888G>A ENST00000373965.2 - 20 2705 c.2311C>T c.(2311-2313)Cgt>Tgt p.R771C PCDH15_ENST00000395432.2_Missense_Mutation_p.R727C|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000409834.1_Missense_Mutation_p.R375C|PCDH15_ENST00000373955.1_Missense_Mutation_p.R764C|PCDH15_ENST00000395445.1_Missense_Mutation_p.R771C|PCDH15_ENST00000320301.6_Missense_Mutation_p.R764C|PCDH15_ENST00000414778.1_Missense_Mutation_p.R769C|PCDH15_ENST00000395433.1_Missense_Mutation_p.R742C|PCDH15_ENST00000361849.3_Missense_Mutation_p.R764C|PCDH15_ENST00000395430.1_Missense_Mutation_p.R764C|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395438.1_Missense_Mutation_p.R764C|PCDH15_ENST00000437009.1_Missense_Mutation_p.R693C|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395446.1_Intron NM_001142771.1|NM_001142772.1 NP_001136243.1|NP_001136244.1 Q96QU1 PCD15_HUMAN protocadherin-related 15 764 Cadherin 7. equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1) 237 Melanoma(3;0.117)|Lung SC(717;0.238) GATGTGATACGAAAAAGATTA 0.368000 HNSCC(58;0.16) 31 33 0 0 0.144211 0 0 CDH22 64405 broad.mit.edu 37 20 44869728 44869728 + Missense_Mutation SNP G G A TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr20:44869728G>A ENST00000372262.3 - 2 824 c.424C>T c.(424-426)Cgc>Tgc p.R142C CDH22_ENST00000537909.1_Missense_Mutation_p.R142C NM_021248.1 NP_067071.1 Q9UJ99 CAD22_HUMAN cadherin 22, type 2 142 Cadherin 1. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.R142S(1) endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3) 44 Myeloproliferative disorder(115;0.0122) TTGGTGGCGCGATCCCGAGCC 0.607000 66 38 0 0 0.139131 0 0 NDST4 64579 broad.mit.edu 37 4 115891717 115891717 + Missense_Mutation SNP C C T TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr4:115891717C>T ENST00000264363.2 - 4 1768 c.1090G>A c.(1090-1092)Gat>Aat p.D364N NM_022569.1 NP_072091.1 Q9H3R1 NDST4_HUMAN N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4 364 Heparan sulfate N-deacetylase 4. Golgi membrane|integral to membrane [heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1) 81 Ovarian(17;0.156) OV - Ovarian serous cystadenocarcinoma(123;0.000562) AAAAGGTCATCTCCTTCATCT 0.378000 15 11 0 0 0.033300 0 0 PKDCC 91461 broad.mit.edu 37 2 42281233 42281233 + Missense_Mutation SNP G G A TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr2:42281233G>A ENST00000294964.5 + 3 1000 c.820G>A c.(820-822)Gtc>Atc p.V274I NM_138370.2 NP_612379.2 Q504Y2 PKDCC_HUMAN protein kinase domain containing, cytoplasmic 274 Protein kinase. cell differentiation|embryonic digestive tract development|lung alveolus development|negative regulation of Golgi to plasma membrane protein transport|ossification|palate development|positive regulation of bone mineralization|positive regulation of chondrocyte differentiation|protein transport Golgi apparatus ATP binding|protein kinase activity breast(2)|kidney(1)|lung(5) 8 ACTGGGCTCCGTCACTCTGCT 0.632000 11 55 0 0 0.080935 0 0 NOTCH2 4853 broad.mit.edu 37 1 120468253 120468253 + Missense_Mutation SNP G G A TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr1:120468253G>A ENST00000256646.2 - 25 4405 c.4186C>T c.(4186-4188)Cct>Tct p.P1396S NM_024408.3 NP_077719.2 Q04721 NOTC2_HUMAN notch 2 1396 EGF-like 35. anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 158 all_neural(166;0.153) all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809) Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133) GAGTAATAAGGAGGCTGGCGC 0.667000 """N, F, Mis""" """marginal zone lymphoma, DLBCL""" Alagille Syndrome 127 201 0 0 0.139131 0 0 TMEM151A 256472 broad.mit.edu 37 11 66061887 66061887 + Missense_Mutation SNP C C T TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr11:66061887C>T ENST00000327259.4 + 2 314 c.170C>T c.(169-171)gCc>gTc p.A57V NM_153266.3 NP_694998.1 Q8N4L1 T151A_HUMAN transmembrane protein 151A 57 integral to membrane central_nervous_system(1)|kidney(4)|lung(6) 11 GCCTGCGGGGCCGTGGTGGCC 0.741000 23 20 0 0 0.076483 0 0 PECR 55825 broad.mit.edu 37 2 216904055 216904055 + Silent SNP C C T TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr2:216904055C>T ENST00000265322.7 - 8 929 c.855G>A c.(853-855)ggG>ggA p.G285G NM_018441.5 NP_060911.2 Q9BY49 PECR_HUMAN peroxisomal trans-2-enoyl-CoA reductase 285 fatty acid biosynthetic process|regulation of apoptosis peroxisome binding|trans-2-enoyl-CoA reductase (NADPH) activity endometrium(2)|kidney(1)|liver(1)|lung(9)|stomach(1) 14 Renal(323;0.0327) Epithelial(149;3.8e-06)|all cancers(144;0.000272)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) Adenine(DB00173) CAGAAAGGTCCCCTGCTCCCT 0.483000 51 102 0 0 0.139131 0 0 TSPAN2 10100 broad.mit.edu 37 1 115604836 115604836 + Missense_Mutation SNP C C T TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr1:115604836C>T ENST00000369516.2 - 3 221 c.190G>A c.(190-192)Gga>Aga p.G64R TSPAN2_ENST00000369515.2_Missense_Mutation_p.G64R|TSPAN2_ENST00000369514.2_Missense_Mutation_p.G64R NM_005725.4 NP_005716.2 O60636 TSN2_HUMAN tetraspanin 2 64 integral to membrane central_nervous_system(1)|large_intestine(4)|lung(3)|pancreas(1)|prostate(1) 10 Lung SC(450;0.211) all_cancers(81;2.9e-07)|all_epithelial(167;1.42e-06)|all_lung(203;6.72e-06)|Lung NSC(69;1.13e-05)|Acute lymphoblastic leukemia(138;0.191) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179) GCCCCGGCTCCAACCAGAACA 0.612000 3 5 0 0 0.009096 0 0 ST6GAL2 84620 broad.mit.edu 37 2 107423199 107423199 + Missense_Mutation SNP C C T TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr2:107423199C>T ENST00000409382.3 - 6 2135 c.1525G>A c.(1525-1527)Gtg>Atg p.V509M ST6GAL2_ENST00000361686.4_Missense_Mutation_p.V509M NM_001142351.1 NP_001135823.1 Q96JF0 SIAT2_HUMAN ST6 beta-galactosamide alpha-2,6-sialyltranferase 2 509 growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation Golgi cisterna membrane|integral to Golgi membrane beta-galactoside alpha-2,6-sialyltransferase activity autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 65 GGAAGAACCACCTTGCCCTTG 0.562000 78 61 0 0 0.139131 0 0 SNCAIP 9627 broad.mit.edu 37 5 121787008 121787008 + Silent SNP G G A TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr5:121787008G>A ENST00000261367.7 + 12 4035 c.2607G>A c.(2605-2607)gtG>gtA p.V869V SNCAIP_ENST00000379538.3_Silent_p.V456V|CTC-210G5.1_ENST00000503529.1_RNA|SNCAIP_ENST00000503116.2_3'UTR|CTC-210G5.1_ENST00000510972.1_RNA|SNCAIP_ENST00000261368.8_Silent_p.V822V|SNCAIP_ENST00000414317.2_Silent_p.V424V|SNCAIP_ENST00000504884.2_3'UTR|CTC-210G5.1_ENST00000506053.1_RNA|CTC-210G5.1_ENST00000505546.1_RNA|SNCAIP_ENST00000542191.1_Silent_p.V380V|CTC-210G5.1_ENST00000509993.1_RNA|SNCAIP_ENST00000379533.2_Silent_p.V869V|SNCAIP_ENST00000379536.2_Silent_p.V762V Q9Y6H5 SNCAP_HUMAN synuclein, alpha interacting protein 822 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 NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1) 39 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) AGGAGCCTGTGGTGCAGATGG 0.498000 25 41 0 0 0.091800 0 0 MARCH9 92979 broad.mit.edu 37 12 58152034 58152034 + Silent SNP C C T TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr12:58152034C>T ENST00000266643.5 + 3 1088 c.657C>T c.(655-657)ctC>ctT p.L219L MARCH9_ENST00000548358.1_Silent_p.L106L NM_138396.5 NP_612405.2 Q86YJ5 MARH9_HUMAN membrane-associated ring finger (C3HC4) 9 219 Golgi membrane|Golgi stack|integral to membrane|lysosomal membrane|trans-Golgi network ligase activity|zinc ion binding autonomic_ganglia(1)|large_intestine(2)|lung(1) 4 all_cancers(7;4.96e-69)|Lung NSC(6;5.5e-25)|all_lung(6;3.87e-23)|all_epithelial(6;1.66e-15)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122) GBM - Glioblastoma multiforme(5;4.21e-120)|all cancers(5;3.75e-83)|BRCA - Breast invasive adenocarcinoma(9;0.0294) AGGATCTGCTCTTTCAGATCT 0.537000 16 29 0 0 0.146539 0 0 MYH1 4619 broad.mit.edu 37 17 10419519 10419519 + Silent SNP G G A TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr17:10419519G>A ENST00000226207.5 - 4 439 c.345C>T c.(343-345)atC>atT p.I115I CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA NM_005963.3 NP_005954.3 P12882 MYH1_HUMAN myosin, heavy chain 1, skeletal muscle, adult 115 Myosin head-like. muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5) 176 AACTCACGTAGATCATCCAGG 0.438000 52 74 0 0 0.139131 0 0 KCNH8 131096 broad.mit.edu 37 3 19491795 19491795 + Missense_Mutation SNP G G A TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr3:19491795G>A ENST00000328405.2 + 9 1839 c.1573G>A c.(1573-1575)Gag>Aag p.E525K KCNH8_ENST00000537696.1_Intron NM_144633.2 NP_653234.2 Q96L42 KCNH8_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 8 525 E -> Q (in Ref. 3; BAD92290). integral to membrane two-component sensor activity NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 77 AGATTCAAATGAGGTAATGTT 0.393000 20 29 0 0 0.055883 0 0 SLC6A5 9152 broad.mit.edu 37 11 20676363 20676363 + Silent SNP C C T TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr11:20676363C>T ENST00000525748.1 + 16 2616 c.2343C>T c.(2341-2343)tcC>tcT p.S781S SLC6A5_ENST00000528440.1_3'UTR NM_004211.3 NP_004202.2 Q9Y345 SC6A5_HUMAN solute carrier family 6 (neurotransmitter transporter), member 5 781 synaptic transmission integral to membrane|plasma membrane glycine:sodium symporter activity|neurotransmitter:sodium symporter activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 63 Glycine(DB00145) GAACCTCTTCCTTGGGACTCA 0.552000 53 68 0 0 0.139131 0 0 NOTCH2 4853 broad.mit.edu 37 1 120468252 120468252 + Missense_Mutation SNP G G A TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr1:120468252G>A ENST00000256646.2 - 25 4406 c.4187C>T c.(4186-4188)cCt>cTt p.P1396L NM_024408.3 NP_077719.2 Q04721 NOTC2_HUMAN notch 2 1396 EGF-like 35. anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 158 all_neural(166;0.153) all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809) Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133) GGAGTAATAAGGAGGCTGGCG 0.667000 """N, F, Mis""" """marginal zone lymphoma, DLBCL""" Alagille Syndrome 130 202 0 0 0.139131 0 0 SEMA3A 10371 broad.mit.edu 37 7 83606496 83606496 + Missense_Mutation SNP C C G TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr7:83606496C>G ENST00000265362.3 - 15 1983 c.1669G>C c.(1669-1671)Gat>Cat p.D557H SEMA3A_ENST00000436949.1_Missense_Mutation_p.D557H NM_006080.2 NP_006071.1 Q14563 SEM3A_HUMAN sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A 557 axon guidance extracellular region|membrane receptor activity breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 53 TTTCTTATATCTTGTCGTCTT 0.348000 73 36 0 0 0.139131 0 0 SDSL 113675 broad.mit.edu 37 12 113873216 113873216 + Missense_Mutation SNP G G A TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr12:113873216G>A ENST00000403593.4 + 6 788 c.526G>A c.(526-528)Ggg>Agg p.G176R SDSL_ENST00000345635.4_Missense_Mutation_p.G176R Q96GA7 SDSL_HUMAN serine dehydratase-like 176 cellular amino acid metabolic process L-serine ammonia-lyase activity|L-threonine ammonia-lyase activity|pyridoxal phosphate binding endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2) 15 Pyridoxal Phosphate(DB00114) AGTTGGGGGTGGGGGTCTCCT 0.667000 8 16 0 0 0.038147 0 0 RNF182 221687 broad.mit.edu 37 6 13977476 13977476 + Silent SNP G G A TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr6:13977476G>A ENST00000488300.1 + 3 649 c.126G>A c.(124-126)agG>agA p.R42R RNF182_ENST00000537663.1_Silent_p.R42R|RNF182_ENST00000544682.1_Silent_p.R42R|RNF182_ENST00000537388.1_Silent_p.R42R NM_152737.3 NP_689950.1 Q8N6D2 RN182_HUMAN ring finger protein 182 42 cytoplasm|integral to membrane|intracellular membrane-bounded organelle protein binding|ubiquitin-protein ligase activity|zinc ion binding cervix(1)|large_intestine(7)|liver(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 15 Breast(50;0.00405)|Ovarian(93;0.0964) all_hematologic(90;0.135) Epithelial(50;0.195) GTTGTCATAGGGTTTGTGCCA 0.488000 49 123 0 0 0.139131 0 0 CSMD1 64478 broad.mit.edu 37 8 3443700 3443700 + Missense_Mutation SNP C C T TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr8:3443700C>T ENST00000520002.1 - 10 1738 c.1183G>A c.(1183-1185)Gag>Aag p.E395K CSMD1_ENST00000539096.1_Missense_Mutation_p.E394K|CSMD1_ENST00000602557.1_Missense_Mutation_p.E395K|CSMD1_ENST00000542608.1_Missense_Mutation_p.E394K|CSMD1_ENST00000400186.3_Missense_Mutation_p.E395K|CSMD1_ENST00000537824.1_Missense_Mutation_p.E394K|CSMD1_ENST00000602723.1_Missense_Mutation_p.E395K Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 395 Sushi 2. 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) GCGAGCGTCTCTGTAACTCTC 0.478000 25 6 0 0 0.083992 0 0 MUC2 4583 broad.mit.edu 37 11 1085976 1085976 + Missense_Mutation SNP T T A TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr11:1085976T>A ENST00000441003.2 + 22 2843 c.2816T>A c.(2815-2817)aTc>aAc p.I939N MUC2_ENST00000359061.5_Missense_Mutation_p.I939N NM_002457.2 NP_002448.2 Q02817 MUC2_HUMAN mucin 2, oligomeric mucus/gel-forming 939 VWFD 3. inner mucus layer|outer mucus layer protein binding NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 102 all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191) BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) Pranlukast(DB01411) CGTGTGGTGATCCAGCGTGAT 0.642000 16 35 0 0 0.038395 0 0 JAKMIP2 9832 broad.mit.edu 37 5 147023718 147023718 + Missense_Mutation SNP G G A TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr5:147023718G>A ENST00000265272.5 - 7 1594 c.1127C>T c.(1126-1128)tCt>tTt p.S376F JAKMIP2_ENST00000507386.1_Missense_Mutation_p.S376F|JAKMIP2_ENST00000333010.6_Missense_Mutation_p.S334F NM_014790.3 NP_055605.2 Q96AA8 JKIP2_HUMAN janus kinase and microtubule interacting protein 2 376 Golgi apparatus p.S376Y(1) NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2) 64 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GTCATTCAGAGATTTTAATTT 0.373000 21 25 0 0 0.062417 0 0 GOLGA8IP 283796 broad.mit.edu 37 15 23261104 23261104 + Missense_Mutation SNP C C T TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr15:23261104C>T ENST00000450802.3 + 10 877 c.779C>T c.(778-780)tCg>tTg p.S260L AGAAAAATGTCGCAGGAGGTG 0.468000 35 48 0 0 0.139131 0 0 IDH1 3417 broad.mit.edu 37 2 209113113 209113113 + Missense_Mutation SNP G G A rs121913499 TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr2:209113113G>A ENST00000415913.1 - 4 775 c.394C>T c.(394-396)Cgt>Tgt p.R132C IDH1_ENST00000345146.2_Missense_Mutation_p.R132C|IDH1_ENST00000446179.1_Missense_Mutation_p.R132C O75874 IDHC_HUMAN isocitrate dehydrogenase 1 (NADP+), soluble 132 R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). 2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle cytosol|peroxisomal matrix isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity p.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(1) NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1) 4887 Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136) TAAGCATGACGACCTATGATG 0.398000 Mis gliobastoma 33 47 0 0 0.064281 0 0 C1QTNF9 338872 broad.mit.edu 37 13 24892958 24892958 + Missense_Mutation SNP G G A TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr13:24892958G>A ENST00000382071.2 + 3 254 c.169G>A c.(169-171)Gaa>Aaa p.E57K C1QTNF9-AS1_ENST00000449656.1_RNA|C1QTNF9_ENST00000332018.4_Missense_Mutation_p.E57K P0C862 C1T9A_HUMAN C1q and tumor necrosis factor related protein 9 57 Collagen-like 1. collagen hormone activity endometrium(1)|kidney(2)|lung(6) 9 all_cancers(29;3.55e-20)|all_epithelial(30;4.25e-17)|all_lung(29;1.04e-16)|Lung SC(185;0.0225)|Breast(139;0.052) all cancers(112;0.00565)|Epithelial(112;0.027)|OV - Ovarian serous cystadenocarcinoma(117;0.115)|Lung(94;0.159) CCACCTAGGAGAACCAGGACG 0.498000 73 55 0 0 0.139131 0 0 SCN9A 6335 broad.mit.edu 37 2 167168163 167168163 + Missense_Mutation SNP G G T TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr2:167168163G>T ENST00000375387.4 - 2 444 c.104C>A c.(103-105)cCc>cAc p.P35H SCN9A_ENST00000409672.1_Missense_Mutation_p.P35H|SCN9A_ENST00000409435.1_Missense_Mutation_p.P35H|SCN9A_ENST00000303354.6_Missense_Mutation_p.P35H Q15858 SCN9A_HUMAN sodium channel, voltage-gated, type IX, alpha subunit 35 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 108 Lamotrigine(DB00555)|Lidocaine(DB00281) TTCTTCTTTGGGTTCCTTTGA 0.473000 32 81 1.62565e-12 1.85541e-12 0.050027 1 0 TNFRSF10A 8797 broad.mit.edu 37 8 23056848 23056848 + Missense_Mutation SNP C C T TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr8:23056848C>T ENST00000221132.3 - 8 1009 c.945G>A c.(943-945)atG>atA p.M315I NM_003844.3 NP_003835.3 O00220 TR10A_HUMAN tumor necrosis factor receptor superfamily, member 10a 315 activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors caspase activator activity|death receptor activity|TRAIL binding|transcription factor binding NS(2)|central_nervous_system(3)|endometrium(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(1)|skin(1) 16 Prostate(55;0.0421)|Breast(100;0.14) Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646) CCTGGCTTTCCATTTGCTGCT 0.582000 29 48 0 0 0.116897 0 0 LRIG3 121227 broad.mit.edu 37 12 59272672 59272672 + Missense_Mutation SNP C C A TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr12:59272672C>A ENST00000320743.3 - 14 2303 c.2017G>T c.(2017-2019)Gta>Tta p.V673L LRIG3_ENST00000379141.4_Missense_Mutation_p.V613L NM_153377.4 NP_700356.2 Q6UXM1 LRIG3_HUMAN leucine-rich repeats and immunoglobulin-like domains 3 673 Ig-like C2-type 2. integral to membrane LRIG3/ROS1(2) breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 GBM - Glioblastoma multiforme(1;1.17e-18) CAGCTGTATACCCCAATGTCC 0.478000 T ROS1 NSCLC 26 70 5.61819e-17 6.42937e-17 0.108266 1 0 GRIN2A 2903 broad.mit.edu 37 16 9858028 9858028 + Missense_Mutation SNP C C T TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr16:9858028C>T ENST00000396573.2 - 14 3682 c.3373G>A c.(3373-3375)Gag>Aag p.E1125K GRIN2A_ENST00000404927.2_Missense_Mutation_p.E1125K|GRIN2A_ENST00000330684.3_Missense_Mutation_p.E1125K|GRIN2A_ENST00000535259.1_Missense_Mutation_p.E968K|GRIN2A_ENST00000396575.2_Missense_Mutation_p.E1125K|GRIN2A_ENST00000562109.1_Missense_Mutation_p.E1125K NM_000833.3 NP_000824.1 Q12879 NMDE1_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2A 1125 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding p.E1125*(2) NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1) 198 Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) AAACCAGGCTCCTTCTCACCA 0.507000 73 75 0 0 0.139131 0 0 ZNF48 197407 broad.mit.edu 37 16 30410306 30410306 + Missense_Mutation SNP G G A TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr16:30410306G>A ENST00000320159.2 + 2 2111 c.1735G>A c.(1735-1737)Ggt>Agt p.G579S NM_001214906.1|NM_001214907.1|NM_001214909.1|NM_152652.2 NP_001201835.1|NP_001201836.1|NP_001201838.1|NP_689865.2 Q96MX3 ZNF48_HUMAN zinc finger protein 48 579 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(11)|ovary(2)|pancreas(1)|skin(1) 21 GTGTGGCAAGGGTTTTGGTGA 0.592000 40 60 0 0 0.086207 0 0 GBF1 8729 broad.mit.edu 37 10 104122406 104122406 + Nonsense_Mutation SNP C C T TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr10:104122406C>T ENST00000369983.3 + 15 2118 c.1858C>T c.(1858-1860)Cga>Tga p.R620* NM_001199378.1|NM_001199379.1|NM_004193.2 NP_001186307.1|NP_001186308.1|NP_004184.1 Q92538 GBF1_HUMAN golgi brefeldin A resistant guanine nucleotide exchange factor 1 620 COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER Golgi membrane ARF guanyl-nucleotide exchange factor activity|protein binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 71 Colorectal(252;0.0236) Epithelial(162;5.16e-08)|all cancers(201;1.19e-06) AGATGGCACCCGAGAAGCTAG 0.502000 22 40 0 0 0.076483 0 0 SEMA3G 56920 broad.mit.edu 37 3 52475703 52475703 + Missense_Mutation SNP C C T TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr3:52475703C>T ENST00000231721.2 - 6 553 c.554G>A c.(553-555)gGg>gAg p.G185E NM_020163.1 NP_064548.1 Q9NS98 SEM3G_HUMAN sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3G 185 Sema. multicellular organismal development extracellular region|membrane receptor activity kidney(1)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1) 18 BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00173)|KIRC - Kidney renal clear cell carcinoma(197;0.00196)|OV - Ovarian serous cystadenocarcinoma(275;0.0333) GTACAGCTCCCCGTCTGGGGT 0.662000 21 36 0 0 0.055883 0 0 MFSD9 84804 broad.mit.edu 37 2 103335015 103335015 + Missense_Mutation SNP G G A TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr2:103335015G>A ENST00000258436.5 - 6 1332 c.1289C>T c.(1288-1290)tCg>tTg p.S430L NM_032718.3 NP_116107.3 Q8NBP5 MFSD9_HUMAN major facilitator superfamily domain containing 9 430 transmembrane transport integral to membrane|plasma membrane transporter activity breast(3)|large_intestine(7)|liver(1)|lung(6)|ovary(2)|skin(1) 20 GGCAACCCCCGAGAGGAGAGG 0.637000 20 32 0 0 0.049695 0 0 CRIP3 401262 broad.mit.edu 37 6 43276122 43276122 + Silent SNP C C T TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr6:43276122C>T ENST00000372569.3 - 2 73 c.69G>A c.(67-69)aaG>aaA p.K23K CRIP3_ENST00000274990.4_Silent_p.K23K|ZNF318_ENST00000607252.1_5'UTR NM_206922.2 NP_996805.2 Q6Q6R5 CRIP3_HUMAN cysteine-rich protein 3 23 LIM zinc-binding 1. cytoplasm zinc ion binding endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 10 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305) GGTGCCAGTTCTTGCCCAGGG 0.622000 20 43 0 0 0.049695 0 0 G2E3 55632 broad.mit.edu 37 14 31058628 31058628 + Missense_Mutation SNP G G A TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr14:31058628G>A ENST00000206595.6 + 4 329 c.175G>A c.(175-177)Gaa>Aaa p.E59K G2E3_ENST00000544007.1_3'UTR|G2E3_ENST00000553504.1_Missense_Mutation_p.E89K|G2E3_ENST00000438909.2_Missense_Mutation_p.E13K NM_017769.3 NP_060239.2 Q7L622 G2E3_HUMAN G2/M-phase specific E3 ubiquitin protein ligase 59 apoptosis|multicellular organismal development|protein modification process Golgi apparatus|nucleolus acid-amino acid ligase activity|protein binding|zinc ion binding endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 23 CAAAGAAGAAGAAGGAGTTTA 0.289000 48 80 0 0 0.139131 0 0 SLC6A5 9152 broad.mit.edu 37 11 20676362 20676362 + Missense_Mutation SNP C C T TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr11:20676362C>T ENST00000525748.1 + 16 2615 c.2342C>T c.(2341-2343)tCc>tTc p.S781F SLC6A5_ENST00000528440.1_3'UTR NM_004211.3 NP_004202.2 Q9Y345 SC6A5_HUMAN solute carrier family 6 (neurotransmitter transporter), member 5 781 synaptic transmission integral to membrane|plasma membrane glycine:sodium symporter activity|neurotransmitter:sodium symporter activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 63 Glycine(DB00145) GGAACCTCTTCCTTGGGACTC 0.552000 54 63 0 0 0.139131 0 0 RFX6 222546 broad.mit.edu 37 6 117241473 117241473 + Splice_Site SNP A A G TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr6:117241473A>G ENST00000332958.2 + 12 1199 c.1182_splice c.e12-1 p.I395_splice NM_173560.3 NP_775831.2 Q8HWS3 RFX6_HUMAN regulatory factor X, 6 395 glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation nucleus protein binding|transcription regulatory region DNA binding cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 59 CTCTATGCAGATTGCCAGACC 0.358000 29 14 0 0 0.050027 0 0 EXTL3 2137 broad.mit.edu 37 8 28574773 28574773 + Silent SNP C C T TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr8:28574773C>T ENST00000220562.4 + 3 2099 c.1197C>T c.(1195-1197)acC>acT p.T399T EXTL3_ENST00000519886.1_Intron|EXTL3_ENST00000523149.1_Silent_p.T15T NM_001440.2 NP_001431.1 O43909 EXTL3_HUMAN exostosin-like glycosyltransferase 3 399 integral to membrane|intrinsic to endoplasmic reticulum membrane glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding|protein binding biliary_tract(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(8)|ovary(1)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(1) 36 Ovarian(32;0.069) KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228) TGGAATTCACCTGCAAAAACC 0.602000 19 21 0 0 0.043863 0 0 KLHL21 9903 broad.mit.edu 37 1 6659204 6659204 + Missense_Mutation SNP C C T TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr1:6659204C>T ENST00000377663.3 - 2 1513 c.1330G>A c.(1330-1332)Gac>Aac p.D444N KLHL21_ENST00000467612.1_Missense_Mutation_p.D77N|KLHL21_ENST00000377658.4_Missense_Mutation_p.D444N|KLHL21_ENST00000463043.1_Missense_Mutation_p.D77N Q9UJP4 KLH21_HUMAN kelch-like family member 21 444 anaphase|cytokinesis|mitosis|protein ubiquitination Cul3-RING ubiquitin ligase complex|cytoplasm|polar microtubule central_nervous_system(1)|endometrium(1)|kidney(1)|lung(3)|prostate(2) 8 Ovarian(185;0.0212)|all_lung(157;0.154) all_cancers(23;7.39e-28)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156) Colorectal(212;1.36e-07)|COAD - Colon adenocarcinoma(227;1.4e-05)|Kidney(185;4.95e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000528)|KIRC - Kidney renal clear cell carcinoma(229;0.000927)|STAD - Stomach adenocarcinoma(132;0.0172)|READ - Rectum adenocarcinoma(331;0.0644) AGGTCGGTGTCCGGGTCGTAG 0.637000 13 14 0 0 0.093190 0 0 CNTN5 53942 broad.mit.edu 37 11 99786873 99786873 + Missense_Mutation SNP A A C TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr11:99786873A>C ENST00000524871.1 + 7 955 c.665A>C c.(664-666)cAt>cCt p.H222P CNTN5_ENST00000418526.2_Missense_Mutation_p.H148P|CNTN5_ENST00000279463.3_Missense_Mutation_p.H222P|CNTN5_ENST00000528682.1_Missense_Mutation_p.H222P|CNTN5_ENST00000527185.1_Missense_Mutation_p.H222P NM_014361.3 NP_055176.1 O94779 CNTN5_HUMAN contactin 5 222 Ig-like C2-type 2. cell adhesion anchored to membrane|plasma membrane protein binding NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 81 all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219) BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196) CCTCCGCCACATTCACCAGGT 0.458000 3 21 0 0 0.115264 0 0 CHRNA7 1139 broad.mit.edu 37 15 32460294 32460294 + Missense_Mutation SNP G G A TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr15:32460294G>A ENST00000306901.3 + 10 1241 c.1144G>A c.(1144-1146)Ggg>Agg p.G382R CHRNA7_ENST00000454250.3_Missense_Mutation_p.G411R|CHRNA7_ENST00000455693.2_Missense_Mutation_p.G201R NM_000746.5 NP_000737.1 P36544 ACHA7_HUMAN cholinergic receptor, nicotinic, alpha 7 (neuronal) 382 activation of MAPK activity|calcium ion transport|cellular calcium ion homeostasis|memory|negative regulation of tumor necrosis factor production|positive regulation of angiogenesis|positive regulation of cell proliferation|response to hypoxia|response to nicotine cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|beta-amyloid binding|chloride channel regulator activity|nicotinic acetylcholine-activated cation-selective channel activity|protein homodimerization activity|toxin binding endometrium(3)|large_intestine(1)|lung(6)|ovary(2) 12 all_lung(180;6.35e-11) all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227) Nicotine(DB00184)|Varenicline(DB01273) CGCCAGCAACGGGAACCTGCT 0.721000 5 18 0 0 0.093190 0 0 CACNA1C 775 broad.mit.edu 37 12 2788894 2788894 + Silent SNP G G A TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr12:2788894G>A ENST00000399655.1 + 42 5641 c.5376G>A c.(5374-5376)gaG>gaA p.E1792E CACNA1C_ENST00000399603.1_Silent_p.E1792E|CACNA1C_ENST00000399638.1_Silent_p.E1820E|CACNA1C_ENST00000402845.3_Silent_p.E1811E|CACNA1C_ENST00000399641.1_Silent_p.E1792E|CACNA1C_ENST00000399601.1_Silent_p.E1792E|CACNA1C-AS1_ENST00000501371.1_RNA|CACNA1C_ENST00000399597.1_Silent_p.E1792E|CACNA1C_ENST00000347598.4_Silent_p.E1840E|CACNA1C_ENST00000335762.5_Silent_p.E1817E|CACNA1C_ENST00000399621.1_Silent_p.E1811E|CACNA1C_ENST00000344100.3_Silent_p.E1833E|CACNA1C_ENST00000399591.1_Silent_p.E1800E|CACNA1C_ENST00000399649.1_Silent_p.E1798E|CACNA1C_ENST00000399629.1_Silent_p.E1809E|CACNA1C_ENST00000406454.3_Silent_p.E1792E|CACNA1C_ENST00000399644.1_Silent_p.E1792E|CACNA1C_ENST00000399617.1_Silent_p.E1792E|CACNA1C_ENST00000327702.7_Silent_p.E1792E|CACNA1C_ENST00000399595.1_Silent_p.E1800E|CACNA1C_ENST00000399606.1_Silent_p.E1812E|CACNA1C_ENST00000399634.1_Silent_p.E1792E|CACNA1C_ENST00000399637.1_Silent_p.E1811E NM_000719.6|NM_001129829.1|NM_001129834.1 NP_000710.5|NP_001123301.1|NP_001123306.1 Q13936 CAC1C_HUMAN calcium channel, voltage-dependent, L type, alpha 1C subunit 1840 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 NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4) 132 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) GCACTGTGGAGGGCCACGGGC 0.697000 7 7 0 0 0.029380 0 0 ARID1A 8289 broad.mit.edu 37 1 27099361 27099361 + Nonsense_Mutation SNP C C T TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr1:27099361C>T ENST00000324856.7 + 14 3969 c.3598C>T c.(3598-3600)Cag>Tag p.Q1200* ARID1A_ENST00000457599.2_Nonsense_Mutation_p.Q1200*|ARID1A_ENST00000374152.2_Nonsense_Mutation_p.Q817* NM_006015.4 NP_006006.3 O14497 ARI1A_HUMAN AT rich interactive domain 1A (SWI-like) 1200 androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent nBAF complex|npBAF complex|SWI/SNF complex DNA binding|protein binding ARID1A/MAST2_ENST00000361297(2) NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24) 411 all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242) CTCCACATTCCAGAAGCGGAA 0.458000 """Mis, N, F, S, D""" """clear cell ovarian carcinoma, RCC""" 24 28 0 0 0.099896 0 0 CUEDC2 79004 broad.mit.edu 37 10 104184490 104184490 + Missense_Mutation SNP G G A TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr10:104184490G>A ENST00000369937.4 - 3 279 c.134C>T c.(133-135)tCg>tTg p.S45L NM_024040.2 NP_076945.2 Q9H467 CUED2_HUMAN CUE domain containing 2 45 cytoplasm|nucleus protein binding autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(1)|stomach(1)|upper_aerodigestive_tract(1) 8 Colorectal(252;0.122) Epithelial(162;9.17e-09)|all cancers(201;2.16e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215) TGATGGGCCCGAGGGGCCCAG 0.587000 24 59 0 0 0.108266 0 0 MUC16 94025 broad.mit.edu 37 19 9070509 9070509 + Missense_Mutation SNP G G A TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr19:9070509G>A ENST00000397910.4 - 3 17140 c.16937C>T c.(16936-16938)tCc>tTc p.S5646F NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 5648 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TGATGTGGAGGAAACAGGAGA 0.517000 16 23 0 0 0.038395 0 0 ACSM2B 348158 broad.mit.edu 37 16 20559726 20559726 + Missense_Mutation SNP C C T rs138313532 byFrequency TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr16:20559726C>T ENST00000329697.6 - 7 1132 c.964G>A c.(964-966)Gat>Aat p.D322N ACSM2B_ENST00000565232.1_Missense_Mutation_p.D322N|ACSM2B_ENST00000567288.1_5'UTR|ACSM2B_ENST00000565322.1_Missense_Mutation_p.D243N|ACSM2B_ENST00000567001.1_Missense_Mutation_p.D322N NM_001105069.1 NP_001098539.1 Q68CK6 ACS2B_HUMAN acyl-CoA synthetase medium-chain family member 2B 322 fatty acid metabolic process|xenobiotic metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5) 57 CTGGAAAGATCCTGCTGTAGC 0.493000 32 70 0 0 0.111260 0 0 FPR2 2358 broad.mit.edu 37 19 52272052 52272052 + Silent SNP G G A TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr19:52272052G>A ENST00000598776.1 + 2 913 c.141G>A c.(139-141)gtG>gtA p.V47V FPR2_ENST00000598953.1_Silent_p.V47V|FPR2_ENST00000340023.6_Silent_p.V47V NM_001462.3 NP_001453.1 P25090 FPR2_HUMAN formyl peptide receptor 2 47 cell adhesion|cellular component movement|chemotaxis|inflammatory response integral to membrane|plasma membrane N-formyl peptide receptor activity endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 33 ATGGGCTTGTGATCTGGGTGG 0.557000 29 49 0 0 0.050027 0 0 TTN 7273 broad.mit.edu 37 2 179594029 179594029 + Missense_Mutation SNP C C G TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr2:179594029C>G ENST00000589042.1 - 64 19078 c.18854G>C c.(18853-18855)aGa>aCa p.R6285T TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.R5041T|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.R5968T|TTN-AS1_ENST00000585451.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 5968 Ig-like 44. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CAGGGCAACTCTAGTACTGCA 0.403000 66 54 0 0 0.139131 0 0 LMNA 4000 broad.mit.edu 37 1 156105804 156105804 + Missense_Mutation SNP C C T TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr1:156105804C>T ENST00000368300.4 + 6 1261 c.1049C>T c.(1048-1050)gCa>gTa p.A350V LMNA_ENST00000448611.2_Missense_Mutation_p.A238V|LMNA_ENST00000392353.3_Missense_Mutation_p.A269V|LMNA_ENST00000368297.1_Missense_Mutation_p.A269V|LMNA_ENST00000368299.3_Missense_Mutation_p.A350V|LMNA_ENST00000368301.2_Missense_Mutation_p.A350V|LMNA_ENST00000496738.1_3'UTR|LMNA_ENST00000361308.4_Missense_Mutation_p.A350V|LMNA_ENST00000473598.2_Missense_Mutation_p.A251V|LMNA_ENST00000347559.2_Missense_Mutation_p.A350V NM_170707.3 NP_733821.1 P02545 LMNA_HUMAN lamin A/C 350 Coil 2.|Rod. cellular component disassembly involved in apoptosis|cellular response to hypoxia|establishment or maintenance of microtubule cytoskeleton polarity|muscle organ development|positive regulation of cell aging|regulation of apoptosis|regulation of cell migration cytoplasm|lamin filament|nuclear envelope|perinuclear region of cytoplasm protein binding|structural molecule activity NS(1)|endometrium(1)|kidney(1)|lung(3)|ovary(4) 10 Hepatocellular(266;0.158) GAGATGCGGGCAAGGATGCAG 0.647000 Werner syndrome;Hutchinson-Gilford Progeria Syndrome 94 145 0 0 0.139131 0 0 IRF9 10379 broad.mit.edu 37 14 24620799 24620799 + Nonsense_Mutation SNP C C T TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr14:24620799C>T ENST00000558468.1 + 2 268 c.268C>T c.(268-270)Caa>Taa p.Q90* RNF31_ENST00000559275.1_Nonsense_Mutation_p.Q464*|RNF31_ENST00000382687.3_Nonsense_Mutation_p.Q464*|RNF31_ENST00000324103.6_Nonsense_Mutation_p.Q615* GCTACAGCGCCAACGCCTAGA 0.642000 18 36 0 0 0.038395 0 0 ADAMTS6 11174 broad.mit.edu 37 5 64766754 64766754 + Missense_Mutation SNP C C T TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr5:64766754C>T ENST00000536360.1 - 3 1126 c.313G>A c.(313-315)Gat>Aat p.D105N Q9UKP5 ATS6_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 6 105 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(3) 18 Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235) Lung(70;0.00942) GACACAAAATCTGTGTTGAGA 0.378000 28 38 0 0 0.108266 0 0 MPP7 143098 broad.mit.edu 37 10 28347511 28347511 + Nonsense_Mutation SNP A A T TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr10:28347511A>T ENST00000337532.5 - 16 1596 c.1320T>A c.(1318-1320)taT>taA p.Y440* MPP7_ENST00000445954.2_Nonsense_Mutation_p.Y315*|MPP7_ENST00000375732.1_Nonsense_Mutation_p.Y440*|MPP7_ENST00000540098.1_Nonsense_Mutation_p.Y440*|MPP7_ENST00000375719.3_Nonsense_Mutation_p.Y440* NM_173496.3 NP_775767.2 Q5T2T1 MPP7_HUMAN membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7) 440 Guanylate kinase-like. establishment of cell polarity|positive regulation of protein complex assembly|protein localization to adherens junction|tight junction assembly MPP7-DLG1-LIN7 complex|tight junction protein complex scaffold|protein domain specific binding|protein heterodimerization activity|signaling adaptor activity autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1) 22 AGTTGTTTTTATATTCTCCAT 0.303000 51 91 0 0 0.139131 0 0 RIN1 9610 broad.mit.edu 37 11 66102509 66102509 + Missense_Mutation SNP G G A TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr11:66102509G>A ENST00000311320.4 - 6 887 c.761C>T c.(760-762)tCc>tTc p.S254F RIN1_ENST00000530056.1_Missense_Mutation_p.S149F|RP11-867G23.12_ENST00000526655.1_RNA|RIN1_ENST00000424433.2_Missense_Mutation_p.S149F NM_004292.2 NP_004283.2 Q13671 RIN1_HUMAN Ras and Rab interactor 1 254 endocytosis|signal transduction cytoplasm|cytoskeleton|plasma membrane GTPase activator activity|protein binding breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|ovary(1) 14 CAGGGGGCTGGAGGTCTCTGT 0.657000 14 23 0 0 0.132662 0 0 MPP6 51678 broad.mit.edu 37 7 24703239 24703239 + Missense_Mutation SNP C C T TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr7:24703239C>T ENST00000396475.2 + 7 981 c.682C>T c.(682-684)Cca>Tca p.P228S MPP6_ENST00000409761.1_Missense_Mutation_p.P116S|MPP6_ENST00000222644.4_Missense_Mutation_p.P228S NM_016447.2 NP_057531.2 Q9NZW5 MPP6_HUMAN membrane protein, palmitoylated 6 (MAGUK p55 subfamily member 6) 228 SH3. protein complex assembly protein binding breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|skin(2) 20 TGATTATAATCCATACAATGA 0.323000 7 60 0 0 0.029380 0 0 PCDHGA3 56112 broad.mit.edu 37 5 140723813 140723813 + Silent SNP G G A TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr5:140723813G>A ENST00000253812.6 + 1 213 c.213G>A c.(211-213)agG>agA p.R71R PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron NM_018916.3|NM_032011.1 NP_061739.2|NP_114400.1 breast(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCAGAGGTAGGACGCAGCTTT 0.607000 OREG0016855 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 54 70 0 0 0.139131 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr7:140453136A>T ENST00000288602.6 - 15 1859 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333.4 NP_004324.2 P15056 BRAF_HUMAN v-raf murine sarcoma viral oncogene homolog B 600 Protein kinase. V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis). activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1) SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) TCGAGATTTCACTGTAGCTAG 0.368000 V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN) 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 64 36 0 0 0.139131 0 0 KIAA1328 57536 broad.mit.edu 37 18 34415210 34415210 + Silent SNP A A G TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr18:34415210A>G ENST00000591619.1 + 3 882 c.96A>G c.(94-96)gaA>gaG p.E32E KIAA1328_ENST00000280020.5_Silent_p.E36E|KIAA1328_ENST00000435985.2_5'UTR|KIAA1328_ENST00000592521.1_Silent_p.E36E|KIAA1328_ENST00000543923.1_5'UTR Q86T90 K1328_HUMAN KIAA1328 36 central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(2)|upper_aerodigestive_tract(1) 14 COAD - Colon adenocarcinoma(74;0.195) TTTCTGCTGAAGGAAATGTCA 0.388000 55 38 0 0 0.139131 0 0 SLC26A5 375611 broad.mit.edu 37 7 103018183 103018183 + Missense_Mutation SNP G G A rs144150940 TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr7:103018183G>A ENST00000306312.3 - 18 2110 c.1849C>T c.(1849-1851)Ccc>Tcc p.P617S SLC26A5_ENST00000393729.1_Missense_Mutation_p.P580S|SLC26A5_ENST00000393730.1_Missense_Mutation_p.P585S|SLC26A5_ENST00000393735.2_Intron|SLC26A5_ENST00000393727.1_Missense_Mutation_p.P619S|SLC26A5_ENST00000356767.4_Intron|SLC26A5_ENST00000354356.4_Missense_Mutation_p.P50S|SLC26A5_ENST00000339444.6_Missense_Mutation_p.P617S|SLC26A5_ENST00000432958.2_Missense_Mutation_p.P585S|SLC26A5_ENST00000393723.1_Missense_Mutation_p.P587S NM_198999.2 NP_945350.1 P58743 S26A5_HUMAN solute carrier family 26 (anion exchanger), member 5 617 STAS. regulation of cell shape|sensory perception of sound integral to membrane secondary active sulfate transmembrane transporter activity endometrium(5)|kidney(2)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5) 43 ACTATTGGGGGATATTTTACT 0.403000 17 100 0 0 0.043863 0 0 GGT5 2687 broad.mit.edu 37 22 24622608 24622608 + Silent SNP C C T rs58692741 TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr22:24622608C>T ENST00000327365.4 - 7 1445 c.1029G>A c.(1027-1029)ccG>ccA p.P343P GGT5_ENST00000398292.3_Silent_p.P343P|GGT5_ENST00000263112.7_Silent_p.P311P|GGT5_ENST00000418439.2_Silent_p.P266P NM_001099781.1|NM_004121.2 NP_001093251.1|NP_004112.2 P36269 GGT5_HUMAN gamma-glutamyltransferase 5 343 glutathione biosynthetic process|hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process integral to membrane|plasma membrane acyltransferase activity|gamma-glutamyltransferase activity p.P343P(1) breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(3)|skin(3) 28 CCTGGAGCTTCGGGTGGCTTC 0.627000 26 21 0 0 0.083992 0 0 TRPC6 7225 broad.mit.edu 37 11 101375175 101375175 + Silent SNP C C T TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr11:101375175C>T ENST00000344327.3 - 2 949 c.525G>A c.(523-525)cgG>cgA p.R175R TRPC6_ENST00000348423.4_Silent_p.R175R|TRPC6_ENST00000532133.1_Silent_p.R175R|TRPC6_ENST00000360497.4_Silent_p.R175R NM_004621.5 NP_004612.2 Q9Y210 TRPC6_HUMAN transient receptor potential cation channel, subfamily C, member 6 175 axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity integral to membrane|plasma membrane protein binding autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162) BRCA - Breast invasive adenocarcinoma(274;0.0442) CTTCCACAATCCGAACATAAC 0.438000 24 16 0 0 0.076483 0 0 SPHKAP 80309 broad.mit.edu 37 2 228883081 228883081 + Missense_Mutation SNP G G A TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr2:228883081G>A ENST00000392056.3 - 7 2535 c.2489C>T c.(2488-2490)tCc>tTc p.S830F SPHKAP_ENST00000344657.5_Missense_Mutation_p.S830F NM_001142644.1 NP_001136116.1 Q2M3C7 SPKAP_HUMAN SPHK1 interactor, AKAP domain containing 830 cytoplasm protein binding NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 185 Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23) Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232) TATTTCCTTGGAGGATGTTGT 0.488000 41 89 0 0 0.086207 0 0 PPP1R3A 5506 broad.mit.edu 37 7 113558310 113558310 + Missense_Mutation SNP G G A TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr7:113558310G>A ENST00000284601.3 - 1 810 c.742C>T c.(742-744)Cct>Tct p.P248S NM_002711.3 NP_002702.2 Q16821 PPR3A_HUMAN protein phosphatase 1, regulatory subunit 3A 248 glycogen metabolic process integral to membrane NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2) 121 TGTCTGTTAGGAACTTCTTTC 0.303000 35 189 0 0 0.086207 0 0 NPY1R 4886 broad.mit.edu 37 4 164247100 164247100 + Missense_Mutation SNP G G A TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr4:164247100G>A ENST00000296533.2 - 2 1138 c.607C>T c.(607-609)Cca>Tca p.P203S NPY1R_ENST00000509586.1_Intron NM_000909.5 NP_000900.1 P25929 NPY1R_HUMAN neuropeptide Y receptor Y1 203 inhibition of adenylate cyclase activity by G-protein signaling pathway|outflow tract morphogenesis integral to plasma membrane protein binding breast(1)|cervix(1)|large_intestine(4)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4) 30 all_hematologic(180;0.166) Prostate(90;0.0959)|all_neural(102;0.223) GAGTCCGATGGAAATTGATCA 0.383000 10 15 0 0 0.069234 0 0 GTPBP1 9567 broad.mit.edu 37 22 39122010 39122010 + Splice_Site SNP G G A TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr22:39122010G>A ENST00000216044.5 + 7 1306 c.e7-1 GTPBP1_ENST00000460605.1_Splice_Site NM_004286.4 NP_004277.2 O00178 GTPB1_HUMAN GTP binding protein 1 immune response|positive regulation of mRNA catabolic process|signal transduction cytoplasmic exosome (RNase complex)|cytosol GTP binding|GTPase activity endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1) 18 Melanoma(58;0.04) CCTCTGCTTAGGATGTGCCCG 0.567000 63 108 0 0 0.139131 0 0 STRAP 11171 broad.mit.edu 37 12 16036573 16036573 + Missense_Mutation SNP G G A TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr12:16036573G>A ENST00000419869.2 + 2 524 c.211G>A c.(211-213)Gcc>Acc p.A71T STRAP_ENST00000538352.1_Intron|STRAP_ENST00000025399.6_Missense_Mutation_p.A84T NM_007178.3 NP_009109.3 Q9Y3F4 STRAP_HUMAN serine/threonine kinase receptor associated protein 71 mRNA processing|RNA splicing cell junction|mitochondrion|spliceosomal complex identical protein binding cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(6)|skin(1) 15 Hepatocellular(102;0.121) GAATAAGGATGCCACCAAAGC 0.453000 8 21 0 0 0.038147 0 0 PSG1 5669 broad.mit.edu 37 19 43383679 43383679 + Silent SNP G G A TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr19:43383679G>A ENST00000244296.2 - 1 192 c.55C>T c.(55-57)Ctg>Ttg p.L19L PSG1_ENST00000601073.1_5'UTR|PSG1_ENST00000312439.6_Silent_p.L19L|PSG1_ENST00000595124.1_Silent_p.L19L|PSG1_ENST00000436291.2_Silent_p.L19L|PSG1_ENST00000403380.3_Silent_p.L19L|PSG1_ENST00000595356.1_Silent_p.L19L NM_006905.2 NP_008836.2 pregnancy specific beta-1-glycoprotein 1 breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 30 Prostate(69;0.00682) CCTGTGAGCAGGAGCCCCTTC 0.552000 47 70 0 0 0.139131 0 0 ZNF160 90338 broad.mit.edu 37 19 53572028 53572028 + Missense_Mutation SNP G G A TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr19:53572028G>A ENST00000601421.1 - 3 2527 c.1651C>T c.(1651-1653)Cat>Tat p.H551Y ZNF160_ENST00000418871.1_Missense_Mutation_p.H587Y|ZNF160_ENST00000599056.1_Missense_Mutation_p.H587Y|ZNF160_ENST00000429604.1_Missense_Mutation_p.H587Y Q9HCG1 ZN160_HUMAN zinc finger protein 160 587 hemopoiesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 35 GBM - Glioblastoma multiforme(134;0.02) TCTCCAGTATGAACTCTCCAA 0.413000 27 61 0 0 0.125774 0 0 PGK2 5232 broad.mit.edu 37 6 49753856 49753856 + Missense_Mutation SNP C C T TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr6:49753856C>T ENST00000304801.3 - 1 1197 c.1045G>A c.(1045-1047)Gct>Act p.A349T NM_138733.4 NP_620061.2 P07205 PGK2_HUMAN phosphoglycerate kinase 2 349 glycolysis cytosol ATP binding|phosphoglycerate kinase activity autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 47 Lung NSC(77;0.0402) GTTCCCTTAGCAAAGGCATCC 0.483000 26 171 0 0 0.091800 0 0 PRPF8 10594 broad.mit.edu 37 17 1564924 1564924 + Missense_Mutation SNP C C T TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr17:1564924C>T ENST00000572621.1 - 25 4448 c.4183G>A c.(4183-4185)Gag>Aag p.E1395K PRPF8_ENST00000304992.6_Missense_Mutation_p.E1395K Q6P2Q9 PRP8_HUMAN pre-mRNA processing factor 8 1395 catalytic step 2 spliceosome|nuclear speck|U5 snRNP protein binding|RNA binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3) 77 UCEC - Uterine corpus endometrioid carcinoma (25;0.0855) GCAATGGCCTCTTGCCTCTTG 0.577000 19 26 0 0 0.055883 0 0 CLEC14A 161198 broad.mit.edu 37 14 38724523 38724523 + Nonsense_Mutation SNP C C T TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr14:38724523C>T ENST00000342213.2 - 1 1051 c.705G>A c.(703-705)tgG>tgA p.W235* NM_175060.2 NP_778230.1 Q86T13 CLC14_HUMAN C-type lectin domain family 14, member A 235 integral to membrane sugar binding breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 33 Hepatocellular(127;0.213)|Esophageal squamous(585;0.22) Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187) GBM - Glioblastoma multiforme(112;0.00439) AGAGTTTGTCCCAGCGAGCGC 0.622000 77 106 0 0 0.139131 0 0 FAT3 120114 broad.mit.edu 37 11 92534326 92534326 + Missense_Mutation SNP C C T TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr11:92534326C>T ENST00000298047.6 + 9 8164 c.8147C>T c.(8146-8148)aCc>aTc p.T2716I FAT3_ENST00000409404.2_Missense_Mutation_p.T2716I|FAT3_ENST00000525166.1_Missense_Mutation_p.T2566I Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 2716 Cadherin 25. homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) TATTCCTTTACCATTGCAGAA 0.502000 TCGA Ovarian(4;0.039) 281 399 0 0 0.139131 0 0 TTC14 151613 broad.mit.edu 37 3 180322733 180322733 + Silent SNP C C T TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr3:180322733C>T ENST00000412756.2 + 6 864 c.795C>T c.(793-795)ttC>ttT p.F265F TTC14_ENST00000296015.4_Silent_p.F265F|TTC14_ENST00000382584.4_Silent_p.F265F NM_001042601.2 NP_001036066.1 Q96N46 TTC14_HUMAN tetratricopeptide repeat domain 14 265 RNA binding endometrium(3)|kidney(5)|large_intestine(9)|lung(24)|ovary(2)|pancreas(1)|skin(1) 45 all_cancers(143;9.31e-15)|Ovarian(172;0.0212) OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558) TAGTTGAATTCCTTCTAGAAA 0.368000 10 16 0 0 0.069234 0 0 CELA2A 63036 broad.mit.edu 37 1 15789319 15789319 + Missense_Mutation SNP G G A TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr1:15789319G>A ENST00000359621.4 + 4 344 c.319G>A c.(319-321)Gtg>Atg p.V107M NM_033440.2 NP_254275.1 P08217 CEL2A_HUMAN chymotrypsin-like elastase family, member 2A 107 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|ovary(2)|prostate(1) 16 TAAGATTGTGGTGCACAAGGA 0.587000 55 85 0 0 0.139131 0 0 NIPBL 25836 broad.mit.edu 37 5 37049280 37049280 + Silent SNP C C T TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr5:37049280C>T ENST00000282516.8 + 40 7330 c.6831C>T c.(6829-6831)tcC>tcT p.S2277S NIPBL_ENST00000448238.2_Silent_p.S2277S NM_015384.4|NM_133433.3 NP_056199.2|NP_597677.2 Q6KC79 NIPBL_HUMAN Nipped-B homolog (Drosophila) 2277 brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis SMC loading complex chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4) 128 all_lung(31;0.000447)|Hepatocellular(1;0.108) Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202) TGAGTAGTTCCATCATGCAGC 0.403000 45 67 0 0 0.131918 0 0 CYP2B7P 1556 broad.mit.edu 37 19 41442409 41442409 + RNA SNP G G A TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr19:41442409G>A ENST00000599198.1 + 0 501 NR_001278.1 NS(1)|endometrium(6)|kidney(1)|lung(2)|ovary(1)|skin(1) 12 TTCAGGACGAGGCTCAGTGTC 0.542000 8 11 0 0 0.038147 0 0 DMC1 11144 broad.mit.edu 37 22 38934376 38934376 + Silent SNP G G A TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr22:38934376G>A ENST00000216024.2 - 11 975 c.699C>T c.(697-699)ttC>ttT p.F233F DMC1_ENST00000428462.2_Silent_p.F178F NM_007068.2 NP_008999.2 Q14565 DMC1_HUMAN DNA meiotic recombinase 1 233 reciprocal meiotic recombination condensed nuclear chromosome ATP binding|DNA binding|DNA-dependent ATPase activity|protein binding large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 11 Melanoma(58;0.0286) CACGGCCACTGAAATCCACTC 0.378000 Homologous recombination 32 33 0 0 0.069456 0 0 OMP 4975 broad.mit.edu 37 11 76814343 76814343 + Missense_Mutation SNP A A T TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr11:76814343A>T ENST00000529803.1 + 1 458 c.458A>T c.(457-459)aAc>aTc p.N153I CAPN5_ENST00000531028.1_Intron|CAPN5_ENST00000456580.2_Intron|CAPN5_ENST00000529629.1_Intron|CAPN5_ENST00000278559.3_Intron NM_006189.1 NP_006180.1 P47874 OMP_HUMAN olfactory marker protein 153 sensory perception of smell|synaptic transmission endometrium(1)|kidney(1)|large_intestine(2)|lung(1) 5 GAGCCCGCCAACCTCAAGGCC 0.632000 39 57 0 0 0.104719 0 0 PPP2R5A 5525 broad.mit.edu 37 1 212515562 212515562 + Silent SNP G G A TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr1:212515562G>A ENST00000261461.2 + 4 1087 c.513G>A c.(511-513)gaG>gaA p.E171E PPP2R5A_ENST00000498129.1_3'UTR|PPP2R5A_ENST00000537030.3_Silent_p.E114E NM_006243.3 NP_006234.1 Q15172 2A5A_HUMAN protein phosphatase 2, regulatory subunit B', alpha 171 negative regulation of establishment of protein localization in plasma membrane|negative regulation of lipid kinase activity|positive regulation of protein dephosphorylation|signal transduction chromosome, centromeric region|cytoplasm|nucleus|protein phosphatase type 2A complex kinase binding|protein phosphatase type 2A regulator activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1) 16 OV - Ovarian serous cystadenocarcinoma(81;0.0125)|all cancers(67;0.029)|Epithelial(68;0.154)|GBM - Glioblastoma multiforme(131;0.155) GATTTTTGGAGAGCCCTGATT 0.343000 29 46 0 0 0.144211 0 0 NUAK1 9891 broad.mit.edu 37 12 106461156 106461156 + Silent SNP C C T TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr12:106461156C>T ENST00000261402.2 - 7 2789 c.1410G>A c.(1408-1410)aaG>aaA p.K470K NM_014840.2 NP_055655.1 O60285 NUAK1_HUMAN NUAK family, SNF1-like kinase, 1 470 ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1) 37 TCTGCTGGGTCTTTTTCAAGA 0.572000 27 21 0 0 0.091800 0 0 DMC1 11144 broad.mit.edu 37 22 38934377 38934377 + Missense_Mutation SNP A A T TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr22:38934377A>T ENST00000216024.2 - 11 974 c.698T>A c.(697-699)tTc>tAc p.F233Y DMC1_ENST00000428462.2_Missense_Mutation_p.F178Y NM_007068.2 NP_008999.2 Q14565 DMC1_HUMAN DNA meiotic recombinase 1 233 reciprocal meiotic recombination condensed nuclear chromosome ATP binding|DNA binding|DNA-dependent ATPase activity|protein binding large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 11 Melanoma(58;0.0286) ACGGCCACTGAAATCCACTCG 0.378000 Homologous recombination 33 32 0 0 0.074837 0 0 SLC8A2 6543 broad.mit.edu 37 19 47969002 47969002 + Missense_Mutation SNP G G A TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr19:47969002G>A ENST00000236877.6 - 2 1054 c.659C>T c.(658-660)tCc>tTc p.S220F SLC8A2_ENST00000542837.1_Intron|SLC8A2_ENST00000539381.1_Intron NM_015063.2 NP_055878.1 Q9UPR5 NAC2_HUMAN solute carrier family 8 (sodium/calcium exchanger), member 2 220 cell communication|platelet activation integral to membrane|plasma membrane calcium:sodium antiporter activity|calmodulin binding breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1) 31 all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173) OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457) CACACCGGGGGAAAAAACAGC 0.507000 12 9 0 0 0.105934 0 0 ZC3H7A 29066 broad.mit.edu 37 16 11846620 11846620 + Silent SNP G G A TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr16:11846620G>A ENST00000396516.2 - 21 2828 c.2631C>T c.(2629-2631)tcC>tcT p.S877S ZC3H7A_ENST00000575984.1_Silent_p.S73S|ZC3H7A_ENST00000355758.4_Silent_p.S877S Q8IWR0 Z3H7A_HUMAN zinc finger CCCH-type containing 7A 877 nucleus nucleic acid binding|zinc ion binding breast(2)|endometrium(3)|kidney(5)|large_intestine(2)|liver(1)|lung(3)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(2) 25 GCTTCTCGGAGGAGATGTGGC 0.502000 32 42 0 0 0.144211 0 0 MPP6 51678 broad.mit.edu 37 7 24703240 24703240 + Missense_Mutation SNP C C T TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr7:24703240C>T ENST00000396475.2 + 7 982 c.683C>T c.(682-684)cCa>cTa p.P228L MPP6_ENST00000409761.1_Missense_Mutation_p.P116L|MPP6_ENST00000222644.4_Missense_Mutation_p.P228L NM_016447.2 NP_057531.2 Q9NZW5 MPP6_HUMAN membrane protein, palmitoylated 6 (MAGUK p55 subfamily member 6) 228 SH3. protein complex assembly protein binding breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|skin(2) 20 GATTATAATCCATACAATGAC 0.323000 7 58 0 0 0.029380 0 0 ARHGAP30 257106 broad.mit.edu 37 1 161022309 161022309 + Silent SNP C C T rs140126629 TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr1:161022309C>T ENST00000368013.3 - 8 1181 c.861G>A c.(859-861)agG>agA p.R287R ARHGAP30_ENST00000368015.1_Silent_p.R110R|ARHGAP30_ENST00000368016.3_Silent_p.R287R NM_001025598.1|NM_181720.2 NP_001020769.1|NP_859071.2 Q7Z6I6 RHG30_HUMAN Rho GTPase activating protein 30 287 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00122) ACCTCCACTTCCTGACCTTCA 0.552000 67 109 0 0 0.139131 0 0 TTN 7273 broad.mit.edu 37 2 179600389 179600389 + Silent SNP G G A TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr2:179600389G>A ENST00000589042.1 - 50 15008 c.14784C>T c.(14782-14784)ctC>ctT p.L4928L TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Silent_p.L3684L|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000591111.1_Silent_p.L4611L|TTN-AS1_ENST00000585451.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 4611 Ig-like 29. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TCCCTGGGGGGAGTTTTTGCC 0.428000 36 23 0 0 0.080422 0 0 ATP8A1 10396 broad.mit.edu 37 4 42602500 42602500 + Missense_Mutation SNP C C T TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr4:42602500C>T ENST00000381668.5 - 6 676 c.445G>A c.(445-447)Gaa>Aaa p.E149K ATP8A1_ENST00000264449.10_Missense_Mutation_p.E149K NM_006095.2 NP_006086.1 Q9Y2Q0 AT8A1_HUMAN ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1 149 ATP biosynthetic process chromaffin granule membrane|integral to membrane|plasma membrane aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3) 51 Phosphatidylserine(DB00144) CATACCTTTTCCCAGTGGACA 0.328000 28 37 0 0 0.059317 0 0 OR10J3 441911 broad.mit.edu 37 1 159284004 159284004 + Missense_Mutation SNP G G A TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr1:159284004G>A ENST00000332217.5 - 1 445 c.446C>T c.(445-447)tCa>tTa p.S149L NM_001004467.1 NP_001004467.1 Q5JRS4 O10J3_HUMAN olfactory receptor, family 10, subfamily J, member 3 149 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 47 all_hematologic(112;0.0429) AATCCCCAGTGATCCAGAGGC 0.512000 23 29 0 0 0.083992 0 0 SLC15A4 121260 broad.mit.edu 37 12 129294521 129294521 + Missense_Mutation SNP C C G TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr12:129294521C>G ENST00000266771.5 - 3 1017 c.978G>C c.(976-978)ttG>ttC p.L326F SLC15A4_ENST00000539703.1_Intron|SLC15A4_ENST00000544112.1_5'UTR NM_145648.3 NP_663623.1 Q8N697 S15A4_HUMAN solute carrier family 15 (oligopeptide transporter), member 4 326 oligopeptide transport|protein transport integral to membrane|lysosomal membrane peptide:hydrogen symporter activity endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|skin(1) 22 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.69e-06)|Epithelial(86;1.17e-05)|all cancers(50;5.07e-05) GTATCAAAGCCAAGAAAACAG 0.393000 25 33 0 0 0.116897 0 0 NUGGC 389643 broad.mit.edu 37 8 27880870 27880870 + Silent SNP G G A TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr8:27880870G>A ENST00000413272.2 - 19 2497 c.2355C>T c.(2353-2355)tcC>tcT p.S785S NUGGC_ENST00000341513.6_Silent_p.S785S NM_001010906.1 NP_001010906.1 nuclear GTPase, germinal center associated CCTTGCTGGGGGATGCCCTTA 0.537000 10 14 0 0 0.069234 0 0 PMS2 5395 broad.mit.edu 37 7 6042088 6042088 + Missense_Mutation SNP T T C TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr7:6042088T>C ENST00000265849.7 - 5 638 c.533A>G c.(532-534)aAg>aGg p.K178R PMS2_ENST00000406569.3_Missense_Mutation_p.K178R|PMS2_ENST00000441476.2_Missense_Mutation_p.K72R|PMS2_ENST00000382321.4_Missense_Mutation_p.K178R|PMS2_ENST00000469652.1_Intron NM_000535.5 NP_000526.1 P54278 PMS2_HUMAN PMS2 postmeiotic segregation increased 2 (S. cerevisiae) 178 mismatch repair|reciprocal meiotic recombination|somatic hypermutation of immunoglobulin genes MutLalpha complex ATP binding|ATPase activity|endonuclease activity|protein binding|single base insertion or deletion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(11)|lung(13)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 46 Ovarian(82;0.0694) UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15) CTGTACCTTCTTAATATTCCT 0.418000 """Mis, N, F""" """colorectal, endometrial, ovarian, medulloblastoma, glioma""" Direct reversal of damage;Mismatch excision repair (MMR) Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome 129 64 0 0 0.139131 0 0 DNAH17 8632 broad.mit.edu 37 17 76450757 76450757 + Missense_Mutation SNP G G A TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr17:76450757G>A ENST00000389840.5 - 64 10283 c.10159C>T c.(10159-10161)Ccc>Tcc p.P3387S DNAH17_ENST00000585328.1_Missense_Mutation_p.P3396S|DNAH17_ENST00000586052.1_5'UTR dynein, axonemal, heavy chain 17 NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 116 BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656) AGGCTCAAGGGATCCAGGCCA 0.577000 20 32 0 0 0.049695 0 0 IL33 90865 broad.mit.edu 37 9 6250538 6250538 + Missense_Mutation SNP G G A TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr9:6250538G>A ENST00000381434.3 + 2 169 c.156G>A c.(154-156)atG>atA p.M52I IL33_ENST00000417746.2_Intron|IL33_ENST00000456383.2_Missense_Mutation_p.M52I NM_033439.3 NP_254274.1 O95760 IL33_HUMAN interleukin 33 52 positive regulation of chemokine secretion|positive regulation of inflammatory response|positive regulation of macrophage activation|positive regulation of transcription from RNA polymerase II promoter extracellular space cytokine activity breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|stomach(1)|urinary_tract(1) 16 Acute lymphoblastic leukemia(23;0.158)|Prostate(43;0.167) GBM - Glioblastoma multiforme(50;0.0161)|Lung(218;0.105) CTGGCCTTATGATAAAAAAGG 0.418000 35 37 0 0 0.054565 0 0 SYT1 6857 broad.mit.edu 37 12 79679682 79679682 + Silent SNP G G A TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr12:79679682G>A ENST00000261205.4 + 5 939 c.282G>A c.(280-282)aaG>aaA p.K94K SYT1_ENST00000393240.3_Silent_p.K94K|SYT1_ENST00000457153.2_Silent_p.K94K|SYT1_ENST00000552744.1_Silent_p.K94K NM_005639.2 NP_005630.1 P21579 SYT1_HUMAN synaptotagmin I 94 detection of calcium ion|glutamate secretion|neurotransmitter secretion|protein homooligomerization cell junction|chromaffin granule membrane|clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane 1-phosphatidylinositol binding|low-density lipoprotein particle receptor binding|metal ion binding|syntaxin-1 binding|transporter activity NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|pancreas(2)|skin(6) 25 AGAAGGGAAAGGAAAAAGGAG 0.348000 12 22 0 0 0.080935 0 0 OR5L2 26338 broad.mit.edu 37 11 55594880 55594880 + Silent SNP C C T TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr11:55594880C>T ENST00000378397.1 + 1 186 c.186C>T c.(184-186)ttC>ttT p.F62F NM_001004739.1 NP_001004739.1 Q8NGL0 OR5L2_HUMAN olfactory receptor, family 5, subfamily L, member 2 62 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 59 all_epithelial(135;0.208) TGTACTTTTTCCTCAGCCACT 0.463000 HNSCC(27;0.073) 69 101 0 0 0.139131 0 0 CTNND2 1501 broad.mit.edu 37 5 11022887 11022887 + Missense_Mutation SNP C C T TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr5:11022887C>T ENST00000304623.8 - 17 3182 c.2993G>A c.(2992-2994)gGa>gAa p.G998E CTNND2_ENST00000511377.1_Missense_Mutation_p.G907E|CTNND2_ENST00000503622.1_Missense_Mutation_p.G661E|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000458100.2_Missense_Mutation_p.G565E|CTNND2_ENST00000359640.2_Missense_Mutation_p.G940E NM_001332.2 NP_001323.1 Q9UQB3 CTND2_HUMAN catenin (cadherin-associated protein), delta 2 998 multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent adherens junction|cytoplasm|nucleus protein binding NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2) 136 TTACTTATCTCCTTTGCTTTT 0.483000 30 29 0 0 0.050027 0 0 MYO18B 84700 broad.mit.edu 37 22 26423254 26423254 + Missense_Mutation SNP A A C TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr22:26423254A>C ENST00000335473.7 + 43 7564 c.7314A>C c.(7312-7314)aaA>aaC p.K2438N MYO18B_ENST00000407587.2_Missense_Mutation_p.K2439N|MYO18B_ENST00000536101.1_Missense_Mutation_p.K2438N NM_032608.5 NP_115997.5 Q8IUG5 MY18B_HUMAN myosin XVIIIB 2438 nucleus|sarcomere|unconventional myosin complex actin binding|ATP binding|motor activity NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 146 GCAAGACCAAAGTGGACTTCG 0.552000 35 62 0 0 0.086207 0 0 ZNF646 9726 broad.mit.edu 37 16 31087996 31087996 + Silent SNP C C T TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr16:31087996C>T ENST00000394979.2 + 1 774 c.351C>T c.(349-351)ctC>ctT p.L117L ZNF646_ENST00000300850.5_Silent_p.L117L O15015 ZN646_HUMAN zinc finger protein 646 117 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3) 49 CTCCACACCTCCAGGGTGAGA 0.587000 21 31 0 0 0.049695 0 0 SPATA25 128497 broad.mit.edu 37 20 44515315 44515315 + Silent SNP C C T TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr20:44515315C>T ENST00000372519.3 - 2 569 c.525G>A c.(523-525)gaG>gaA p.E175E NM_080608.3 NP_542175.1 Q9BR10 CT165_HUMAN spermatogenesis associated 25 175 integral to membrane AGATCAGGTCCTCTTCCCGAA 0.647000 77 47 0 0 0.139131 0 0 PEX12 5193 broad.mit.edu 37 17 33904984 33904984 + Silent SNP G G A TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr17:33904984G>A ENST00000225873.4 - 1 664 c.57C>T c.(55-57)tcC>tcT p.S19S NM_000286.2 NP_000277.1 O00623 PEX12_HUMAN peroxisomal biogenesis factor 12 19 protein import into peroxisome matrix integral to peroxisomal membrane protein C-terminus binding|zinc ion binding cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(8) 18 UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) CCTCAAAGATGGATGGCTGGT 0.493000 31 40 0 0 0.144211 0 0 GPR115 221393 broad.mit.edu 37 6 47682430 47682430 + Silent SNP C C T TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr6:47682430C>T ENST00000283303.2 + 6 1707 c.1449C>T c.(1447-1449)ttC>ttT p.F483F GPR115_ENST00000371220.1_Silent_p.F540F|GPR115_ENST00000327753.3_Silent_p.F483F NM_153838.3 NP_722580.3 Q8IZF3 GP115_HUMAN G protein-coupled receptor 115 483 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 52 GCCACTTTTTCTACCTCTCTC 0.408000 69 194 0 0 0.139131 0 0 FAT4 79633 broad.mit.edu 37 4 126389861 126389861 + Missense_Mutation SNP G G A TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr4:126389861G>A ENST00000394329.3 + 11 12107 c.12094G>A c.(12094-12096)Gaa>Aaa p.E4032K FAT4_ENST00000335110.5_Missense_Mutation_p.E2295K NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 4032 Laminin G-like 1. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 TGAAATTGCCGAAGAAAGACT 0.413000 32 30 0 0 0.144211 0 0 ERCC6L2 375748 broad.mit.edu 37 9 98775115 98775115 + Missense_Mutation SNP C C T TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr9:98775115C>T ENST00000407474.3 + 4 1739 c.1226C>T c.(1225-1227)cCa>cTa p.P409L Q5T890 RAD26_HUMAN excision repair cross-complementing rodent repair deficiency, complementation group 6-like 2 0 DNA repair nucleus ATP binding|ATP-dependent helicase activity|DNA binding ATAGAAAATCCAGTGCTGGAA 0.388000 28 4 0 0 0.125774 0 0 ZNF777 27153 broad.mit.edu 37 7 149152757 149152757 + Silent SNP G G A TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr7:149152757G>A ENST00000247930.4 - 2 680 c.357C>T c.(355-357)tcC>tcT p.S119S NM_015694.2 NP_056509.2 Q9ULD5 ZN777_HUMAN zinc finger protein 777 119 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(5)|lung(17)|ovary(1)|skin(2)|urinary_tract(1) 26 Melanoma(164;0.165) OV - Ovarian serous cystadenocarcinoma(82;0.00358) GGGGGGAGTGGGAGAGAAGGG 0.607000 37 294 0 0 0.139131 0 0 VSTM4 196740 broad.mit.edu 37 10 50315758 50315758 + Missense_Mutation SNP G G A TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr10:50315758G>A ENST00000332853.3 - 2 361 c.338C>T c.(337-339)tCc>tTc p.S113F VSTM4_ENST00000298454.3_Missense_Mutation_p.S113F NM_001031746.3 NP_001026916.2 Q8IW00 CJ072_HUMAN V-set and transmembrane domain containing 4 113 Ig-like. integral to membrane|plasma membrane breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|skin(2) 31 TGTCAAGACGGAGAGCCTGTA 0.622000 37 50 0 0 0.124865 0 0 HYDIN 54768 broad.mit.edu 37 16 70896141 70896141 + Nonsense_Mutation SNP G G A TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr16:70896141G>A ENST00000393567.2 - 69 11737 c.11587C>T c.(11587-11589)Cag>Tag p.Q3863* NM_001270974.1 NP_001257903.1 Q4G0P3 HYDIN_HUMAN HYDIN, axonemal central pair apparatus protein 3863 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 43 Ovarian(137;0.0654) TGACTAAGCTGATCTTTTTGA 0.577000 13 15 0 0 0.119110 0 0 USP10 9100 broad.mit.edu 37 16 84767063 84767063 + Missense_Mutation SNP C C T TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr16:84767063C>T ENST00000219473.7 + 2 157 c.44C>T c.(43-45)cCt>cTt p.P15L USP10_ENST00000570191.1_Missense_Mutation_p.P19L|USP10_ENST00000562743.1_3'UTR NM_001272075.1|NM_005153.2 NP_001259004.1|NP_005144.2 Q14694 UBP10_HUMAN ubiquitin specific peptidase 10 15 Interaction with p53/TP53. DNA damage response, signal transduction by p53 class mediator|DNA repair|protein deubiquitination|ubiquitin-dependent protein catabolic process early endosome|intermediate filament cytoskeleton|nucleus cystic fibrosis transmembrane conductance regulator binding|p53 binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity endometrium(3)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|stomach(1)|urinary_tract(1) 17 GATTTTAGCCCTGATGAATTC 0.289000 28 69 0 0 0.050027 0 0 CLSTN2 64084 broad.mit.edu 37 3 140265476 140265476 + Missense_Mutation SNP G G A TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr3:140265476G>A ENST00000458420.3 + 10 1817 c.1627G>A c.(1627-1629)Gaa>Aaa p.E543K NM_022131.2 NP_071414.2 Q9H4D0 CSTN2_HUMAN calsyntenin 2 543 homophilic cell adhesion endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 87 GGCCTGCAAGGAAGGGCTGGA 0.522000 HNSCC(16;0.037) 16 27 0 0 0.033300 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110448656 110448656 + Missense_Mutation SNP G G A TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr8:110448656G>A ENST00000378402.5 + 30 3699 c.3595G>A c.(3595-3597)Gat>Aat p.D1199N NM_177531.4 NP_803875.2 Q86WI1 PKHL1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 1199 IPT/TIG 5. immune response cytosol|extracellular space|integral to membrane receptor activity NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4) 263 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) GATTGAAGGGGATTTGAATAG 0.358000 HNSCC(38;0.096) 21 23 0 0 0.055883 0 0 DOCK4 9732 broad.mit.edu 37 7 111517203 111517203 + Missense_Mutation SNP G G A TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr7:111517203G>A ENST00000428084.1 - 17 1899 c.1627C>T c.(1627-1629)Ctc>Ttc p.L543F DOCK4_ENST00000476846.1_5'UTR|DOCK4_ENST00000437633.1_Missense_Mutation_p.L543F Q8N1I0 DOCK4_HUMAN dedicator of cytokinesis 4 543 DHR-1. cell chemotaxis cytosol|endomembrane system|membrane|stereocilium GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4) 72 Acute lymphoblastic leukemia(1;0.0441) GGAAGTTTGAGGTAGCGGGTA 0.363000 14 5 0 0 0.132662 0 0 CNOT1 23019 broad.mit.edu 37 16 58612679 58612679 + Missense_Mutation SNP A A C TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr16:58612679A>C ENST00000317147.5 - 13 1840 c.1508T>G c.(1507-1509)aTc>aGc p.I503S CNOT1_ENST00000569240.1_Missense_Mutation_p.I503S|CNOT1_ENST00000441024.2_Missense_Mutation_p.I503S NM_001265612.1|NM_016284.4 NP_001252541.1|NP_057368.3 A5YKK6 CNOT1_HUMAN CCR4-NOT transcription complex, subunit 1 503 nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic mRNA processing body|cytosol breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2) 87 Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239) CAGAGTGGAGATAAGTTCATG 0.448000 31 38 0 0 0.144211 0 0 PPP1R18 170954 broad.mit.edu 37 6 30652790 30652790 + Silent SNP G G A TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr6:30652790G>A ENST00000274853.3 - 1 2882 c.1006C>T c.(1006-1008)Ctg>Ttg p.L336L PPP1R18_ENST00000488324.1_Intron|PPP1R18_ENST00000399199.3_Silent_p.L336L NM_133471.3 NP_597728.1 Q6NYC8 PHTNS_HUMAN protein phosphatase 1, regulatory subunit 18 336 cytoplasm|cytoskeleton actin binding CCGGAGTTCAGGGTCCATTTC 0.572000 124 80 0 0 0.139131 0 0 PRSS42 339906 broad.mit.edu 37 3 46874578 46874578 + Nonsense_Mutation SNP G G A TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr3:46874578G>A ENST00000447340.1 - 2 231 c.178C>T c.(178-180)Cga>Tga p.R60* PRSS42_ENST00000429665.1_Nonsense_Mutation_p.R164* Q7Z5A4 PRS42_HUMAN protease, serine, 42 164 proteolysis extracellular region serine-type endopeptidase activity breast(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1) 8 AGGTCATTTCGAATGGTTGTA 0.458000 30 43 0 0 0.134883 0 0 SYN1 6853 broad.mit.edu 37 X 47466364 47466364 + Silent SNP C C T TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chrX:47466364C>T ENST00000295987.7 - 3 631 c.507G>A c.(505-507)cgG>cgA p.R169R SYN1_ENST00000340666.4_Silent_p.R169R NM_006950.3 NP_008881.2 P17600 SYN1_HUMAN synapsin I 169 C; actin-binding and synaptic-vesicle binding. cell junction|Golgi apparatus actin binding|ATP binding|ligase activity|transporter activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(6)|lung(6)|ovary(1) 21 TCACCCCATTCCGAAGAACTT 0.488000 14 1 0 0 0.119110 0 0 PRRC2C 23215 broad.mit.edu 37 1 171560901 171560901 + Missense_Mutation SNP C C T TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr1:171560901C>T ENST00000367742.3 + 34 8617 c.8375C>T c.(8374-8376)cCc>cTc p.P2792L PRRC2C_ENST00000392078.3_Missense_Mutation_p.P2871L|PRRC2C_ENST00000426496.2_Missense_Mutation_p.P2725L|PRRC2C_ENST00000338920.4_Missense_Mutation_p.P2790L Q9Y520 PRC2C_HUMAN proline-rich coiled-coil 2C 1061 protein C-terminus binding GAAAAGCCACCCCCTGCACCC 0.473000 36 64 0 0 0.064281 0 0 INTS5 80789 broad.mit.edu 37 11 62415320 62415320 + Silent SNP C C G TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr11:62415320C>G ENST00000330574.2 - 2 2284 c.2232G>C c.(2230-2232)ggG>ggC p.G744G NM_030628.1 NP_085131.1 Q6P9B9 INT5_HUMAN integrator complex subunit 5 744 snRNA processing integral to membrane|integrator complex protein binding breast(1)|endometrium(4)|large_intestine(6)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2) 36 CTGACCAAATCCCTCCAGGAC 0.522000 21 28 0 0 0.055883 0 0 SMC1B 27127 broad.mit.edu 37 22 45798262 45798262 + Missense_Mutation SNP C C T TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr22:45798262C>T ENST00000357450.4 - 5 804 c.805G>A c.(805-807)Gaa>Aaa p.E269K SMC1B_ENST00000404354.3_Missense_Mutation_p.E269K NM_148674.3 NP_683515.3 Q8NDV3 SMC1B_HUMAN structural maintenance of chromosomes 1B 269 chromosome organization|meiosis chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus ATP binding breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 37 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.0182) ATTCCATGTTCCTTTTTCCTG 0.338000 20 47 0 0 0.049695 0 0 ZSCAN18 65982 broad.mit.edu 37 19 58596361 58596361 + Silent SNP G G A TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr19:58596361G>A ENST00000240727.6 - 7 1623 c.1224C>T c.(1222-1224)tcC>tcT p.S408S ZSCAN18_ENST00000601144.1_Silent_p.S408S|ZSCAN18_ENST00000600404.1_Silent_p.S464S|ZSCAN18_ENST00000421612.2_Silent_p.S272S NM_023926.4 NP_076415.3 Q8TBC5 ZSC18_HUMAN zinc finger and SCAN domain containing 18 408 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|skin(3) 19 Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152) GCTTCCCGCGGGACAAGCCCG 0.726000 6 7 0 0 0.038147 0 0 GRHL2 79977 broad.mit.edu 37 8 102631910 102631910 + Silent SNP G G A TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr8:102631910G>A ENST00000251808.3 + 9 1580 c.1242G>A c.(1240-1242)aaG>aaA p.K414K GRHL2_ENST00000395927.1_Silent_p.K398K NM_024915.3 NP_079191.2 Q6ISB3 GRHL2_HUMAN grainyhead-like 2 (Drosophila) 414 cytoplasm|nucleus DNA binding breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05) Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213) GCCAGATCAAGGTCTTCTGTG 0.333000 24 36 0 0 0.091800 0 0 IGKV1D-12 28903 broad.mit.edu 37 2 90199118 90199118 + RNA SNP C C T TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr2:90199118C>T ENST00000390276.2 + 0 460 GGACAGATTTCACTCTCACTA 0.488000 116 379 0 0 0.139131 0 0 KIAA1324L 222223 broad.mit.edu 37 7 86542394 86542394 + Missense_Mutation SNP G G A TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr7:86542394G>A ENST00000450689.2 - 14 2043 c.1858C>T c.(1858-1860)Ccc>Tcc p.P620S KIAA1324L_ENST00000297222.6_Missense_Mutation_p.P380S|KIAA1324L_ENST00000490995.1_5'UTR|KIAA1324L_ENST00000416314.1_Missense_Mutation_p.P453S|KIAA1324L_ENST00000444627.1_Intron NM_001142749.2 NP_001136221.1 A8MWY0 K132L_HUMAN KIAA1324-like 620 integral to membrane breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 44 Esophageal squamous(14;0.0058) GGAGGGCAGGGGACACACGAT 0.527000 64 28 0 0 0.139131 0 0 SMC1B 27127 broad.mit.edu 37 22 45798263 45798263 + Silent SNP C C T TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr22:45798263C>T ENST00000357450.4 - 5 803 c.804G>A c.(802-804)aaG>aaA p.K268K SMC1B_ENST00000404354.3_Silent_p.K268K NM_148674.3 NP_683515.3 Q8NDV3 SMC1B_HUMAN structural maintenance of chromosomes 1B 268 chromosome organization|meiosis chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus ATP binding breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 37 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.0182) TTCCATGTTCCTTTTTCCTGG 0.333000 20 47 0 0 0.049695 0 0 WRN 7486 broad.mit.edu 37 8 30969276 30969276 + Missense_Mutation SNP A A G TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr8:30969276A>G ENST00000298139.5 + 19 2483 c.2234A>G c.(2233-2235)aAt>aGt p.N745S NM_000553.4 NP_000544.2 Q14191 WRN_HUMAN Werner syndrome, RecQ helicase-like 745 base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance centrosome|nucleolus|nucleoplasm 3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3) 60 Breast(100;0.195) KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192) AAAACAGGGAATATCCTTCAG 0.348000 """Mis, N, F, S""" """osteosarcoma, meningioma, others""" Genes defective in diseases associated with sensitivity to DNA damaging agents Werner syndrome 26 24 0 0 0.125774 0 0 LIFR 3977 broad.mit.edu 37 5 38523673 38523673 + Missense_Mutation SNP C C T TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr5:38523673C>T ENST00000263409.4 - 5 571 c.409G>A c.(409-411)Gat>Aat p.D137N LIFR_ENST00000453190.2_Missense_Mutation_p.D137N|LIFR_ENST00000503088.1_5'UTR NM_002310.5 NP_002301.1 P42702 LIFR_HUMAN leukemia inhibitory factor receptor alpha 137 positive regulation of cell proliferation extracellular region|integral to plasma membrane ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2) 78 all_lung(31;0.00021) TCTGGAGTATCTGGAATTAAG 0.338000 T PLAG1 salivary adenoma 34 53 0 0 0.080422 0 0 NPHP4 261734 broad.mit.edu 37 1 5947473 5947473 + Silent SNP G G A TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr1:5947473G>A ENST00000378156.4 - 18 2623 c.2358C>T c.(2356-2358)gtC>gtT p.V786V NPHP4_ENST00000478423.2_5'UTR NM_015102.3 NP_055917.1 O75161 NPHP4_HUMAN nephronophthisis 4 786 actin cytoskeleton organization|cell-cell adhesion|signal transduction|visual behavior cell-cell junction|centrosome|cilium|microtubule basal body protein binding|structural molecule activity NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4) 47 Ovarian(185;0.0634) all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213) Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649) CAGTTGCCACGACCTCAAGCT 0.642000 23 31 0 0 0.091800 0 0 C7 730 broad.mit.edu 37 5 40947800 40947800 + Missense_Mutation SNP G G A TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr5:40947800G>A ENST00000313164.9 + 8 1194 c.835G>A c.(835-837)Gag>Aag p.E279K NM_000587.2 NP_000578.2 P10643 CO7_HUMAN complement component 7 279 MACPF. complement activation, alternative pathway|complement activation, classical pathway|cytolysis extracellular region|membrane attack complex Ovarian(839;0.0112) ATTCTGGAAGGAGCTTTCCCA 0.453000 22 27 0 0 0.076483 0 0 ZBBX 79740 broad.mit.edu 37 3 167023494 167023494 + Silent SNP C C T TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr3:167023494C>T ENST00000392766.2 - 17 2002 c.1662G>A c.(1660-1662)ttG>ttA p.L554L ZBBX_ENST00000455345.2_Silent_p.L554L|ZBBX_ENST00000392764.1_Silent_p.L525L|ZBBX_ENST00000307529.5_Silent_p.L554L|ZBBX_ENST00000392767.2_Silent_p.L554L NM_001199201.1|NM_024687.3 NP_001186130.1|NP_078963.2 A8MT70 ZBBX_HUMAN zinc finger, B-box domain containing 554 intracellular zinc ion binding NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1) 70 TGCTCAATTCCAAGGATTCTT 0.323000 18 27 0 0 0.055883 0 0 OR4M2 390538 broad.mit.edu 37 15 22369004 22369004 + Silent SNP C C T TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr15:22369004C>T ENST00000332663.2 + 1 527 c.429C>T c.(427-429)atC>atT p.I143I RP11-69H14.6_ENST00000558896.1_RNA NM_001004719.2 NP_001004719.2 Q8NGB6 OR4M2_HUMAN olfactory receptor, family 4, subfamily M, member 2 143 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3) 63 all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101) GBM - Glioblastoma multiforme(6;0.124) all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963) TCTGCTGTATCCTGGTGGCTC 0.507000 49 339 0 0 0.139131 0 0 AMZ2P1 201283 broad.mit.edu 37 17 62968690 62968690 + RNA SNP A A G rs138671696 by1000genomes TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr17:62968690A>G ENST00000430983.1 - 0 1554 NR_026903.1 AAAATTCCACAAGTCTCTTGG 0.373000 4 88 0 0 0.009096 0 0 KDR 3791 broad.mit.edu 37 4 55961074 55961074 + Missense_Mutation SNP G G A TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr4:55961074G>A ENST00000263923.4 - 21 3161 c.2866C>T c.(2866-2868)Cct>Tct p.P956S NM_002253.2 NP_002244.1 P35968 VGFR2_HUMAN kinase insert domain receptor (a type III receptor tyrosine kinase) 956 Protein kinase. 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 NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 135 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) AGATCCACAGGGATTGCTCCA 0.468000 Mis """NSCLC, angiosarcoma""" TSP Lung(20;0.16) 25 51 0 0 0.076483 0 0 PRDM9 56979 broad.mit.edu 37 5 23523410 23523410 + Missense_Mutation SNP G G A TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr5:23523410G>A ENST00000296682.3 + 9 1075 c.893G>A c.(892-894)gGg>gAg p.G298E NM_020227.2 NP_064612.2 Q9NQV7 PRDM9_HUMAN PR domain containing 9 298 SET. meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleoplasm histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11) 172 ATCACCAAGGGGAGAAACTGC 0.438000 HNSCC(3;0.000094) 37 51 0 0 0.098360 0 0 DSCAM 1826 broad.mit.edu 37 21 41516578 41516578 + Silent SNP G G A TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr21:41516578G>A ENST00000400454.1 - 17 3576 c.3099C>T c.(3097-3099)ttC>ttT p.F1033F NM_001389.3 NP_001380.2 O60469 DSCAM_HUMAN Down syndrome cell adhesion molecule 1033 Fibronectin type-III 2. 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 NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4) 142 all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103) TGTTGAATTGGAAGTTACCCC 0.483000 57 36 0 0 0.139131 0 0 ARL16 339231 broad.mit.edu 37 17 79650840 79650840 + Missense_Mutation SNP C C T TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr17:79650840C>T ENST00000397498.4 - 1 114 c.16G>A c.(16-18)Ggg>Agg p.G6R NM_001040025.1 NP_001035114.1 Q0P5N6 ARL16_HUMAN ADP-ribosylation factor-like 16 6 GTP binding p.G6R(1) central_nervous_system(1)|endometrium(1)|lung(4)|skin(1) 7 all_neural(118;0.0878)|all_lung(278;0.23) BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739) AAGGCCCGCCCACCGGCCACT 0.637000 10 13 0 0 0.093190 0 0 TOM1L2 146691 broad.mit.edu 37 17 17797059 17797059 + Silent SNP G G A TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr17:17797059G>A ENST00000379504.3 - 4 365 c.282C>T c.(280-282)ttC>ttT p.F94F TOM1L2_ENST00000535933.1_Silent_p.F94F|TOM1L2_ENST00000540946.1_Silent_p.F94F|TOM1L2_ENST00000318094.10_Silent_p.F94F|TOM1L2_ENST00000542206.1_Intron|TOM1L2_ENST00000395739.4_Silent_p.F94F|TOM1L2_ENST00000581396.1_Intron NM_001082968.1 NP_001076437.1 Q6ZVM7 TM1L2_HUMAN target of myb1-like 2 (chicken) 94 VHS. intracellular protein transport intracellular endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(2) 10 all_neural(463;0.228) CACTGTCGATGAAATCTCGGT 0.517000 29 38 0 0 0.125774 0 0 COL7A1 1294 broad.mit.edu 37 3 48613849 48613849 + Missense_Mutation SNP C C T TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr3:48613849C>T ENST00000328333.8 - 69 5863 c.5756G>A c.(5755-5757)gGa>gAa p.G1919E COL7A1_ENST00000454817.1_Missense_Mutation_p.G1887E NM_000094.3 NP_000085.1 Q02388 CO7A1_HUMAN collagen, type VII, alpha 1 1919 Triple-helical region. cell adhesion|epidermis development basement membrane|collagen type VII protein binding|serine-type endopeptidase inhibitor activity NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5) 137 BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) CCCTTTGGATCCAGTCTCCCC 0.612000 13 13 0 0 0.105934 0 0 TACC3 10460 broad.mit.edu 37 4 1742647 1742647 + Silent SNP G G A TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr4:1742647G>A ENST00000313288.4 + 13 2263 c.2157G>A c.(2155-2157)gaG>gaA p.E719E NM_006342.2 NP_006333.1 Q9Y6A5 TACC3_HUMAN transforming, acidic coiled-coil containing protein 3 719 centrosome central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 25 Breast(71;0.212)|all_epithelial(65;0.241) OV - Ovarian serous cystadenocarcinoma(23;0.00765)|Epithelial(3;0.0126) ACTCCATGGAGAAGTCCTTCT 0.478000 32 40 0 0 0.144211 0 0 ZNF219 51222 broad.mit.edu 37 14 21560062 21560062 + Missense_Mutation SNP G G C TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr14:21560062G>C ENST00000360947.3 - 3 1805 c.1394C>G c.(1393-1395)tCt>tGt p.S465C ZNF219_ENST00000421093.2_Missense_Mutation_p.S465C|ZNF219_ENST00000451119.2_Missense_Mutation_p.S465C|RP11-998D10.7_ENST00000554733.2_lincRNA NM_016423.2 NP_057507.2 Q9P2Y4 ZN219_HUMAN zinc finger protein 219 465 negative regulation of transcription, DNA-dependent integral to membrane|nucleus DNA binding|histamine receptor activity|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(2) 8 all_cancers(95;0.00185) OV - Ovarian serous cystadenocarcinoma(11;9.86e-11)|Epithelial(56;1.27e-08)|all cancers(55;6.06e-08) GBM - Glioblastoma multiforme(265;0.0191) CCCAGCAGCAGAGGCAGAGTG 0.706000 3 20 0 0 0.115264 0 0 H2BFWT 158983 broad.mit.edu 37 X 103267877 103267877 + Missense_Mutation SNP G G A TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chrX:103267877G>A ENST00000217926.5 - 1 382 c.356C>T c.(355-357)aCc>aTc p.T119I NM_001002916.3 NP_001002916.2 Q7Z2G1 H2BWT_HUMAN H2B histone family, member W, testis-specific 119 nucleosome assembly nuclear membrane|nucleosome DNA binding breast(2)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1) 16 ACCAGCCTCGGTGGCGATGCG 0.652000 11 1 0 0 0.119110 0 0 C8orf34 116328 broad.mit.edu 37 8 69445342 69445342 + Missense_Mutation SNP G G A TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr8:69445342G>A ENST00000337103.4 + 6 2322 c.730G>A c.(730-732)Gaa>Aaa p.E244K C8orf34_ENST00000348340.2_Missense_Mutation_p.E269K|C8orf34_ENST00000518698.1_Missense_Mutation_p.E355K|C8orf34_ENST00000539993.1_Missense_Mutation_p.E269K Q49A92 CH034_HUMAN chromosome 8 open reading frame 34 269 signal transduction cAMP-dependent protein kinase regulator activity NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 36 Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502) ATCTGTAACAGAAGAAGATAT 0.358000 27 40 0 0 0.116897 0 0 BMP5 653 broad.mit.edu 37 6 55623891 55623891 + Missense_Mutation SNP C C T TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr6:55623891C>T ENST00000370830.3 - 6 1825 c.1127G>A c.(1126-1128)gGa>gAa p.G376E BMP5_ENST00000446683.2_Intron NM_021073.2 NP_066551.1 P22003 BMP5_HUMAN bone morphogenetic protein 5 376 cartilage development|cell differentiation|growth|ossification extracellular space BMP receptor binding|cytokine activity|growth factor activity cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1) 45 Lung NSC(77;0.0462) LUSC - Lung squamous cell carcinoma(124;0.181) TGCAGCGTATCCTTCTGGTGC 0.343000 14 37 0 0 0.119110 0 0 TELO2 9894 broad.mit.edu 37 16 1545502 1545502 + Missense_Mutation SNP C C T TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr16:1545502C>T ENST00000262319.6 + 3 770 c.491C>T c.(490-492)cCc>cTc p.P164L NM_016111.3 NP_057195.2 Q9Y4R8 TELO2_HUMAN telomere maintenance 2 164 chromosome, telomeric region|cytoplasm|membrane|nucleus protein binding NS(1)|endometrium(1)|kidney(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1) 19 Hepatocellular(780;0.219) GTGGCCCTGCCCGATCACCTG 0.682000 19 13 0 0 0.055883 0 0 PPM1E 22843 broad.mit.edu 37 17 57057398 57057398 + Missense_Mutation SNP G G A TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr17:57057398G>A ENST00000308249.2 + 7 1403 c.1274G>A c.(1273-1275)gGg>gAg p.G425E NM_014906.4 NP_055721.3 Q8WY54 PPM1E_HUMAN protein phosphatase, Mg2+/Mn2+ dependent, 1E 434 PP2C-like. protein dephosphorylation cytoplasm|nucleolus|protein serine/threonine phosphatase complex metal ion binding|protein serine/threonine phosphatase activity biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2) 33 Medulloblastoma(34;0.127)|all_neural(34;0.237) BRCA - Breast invasive adenocarcinoma(1;5.76e-11) GTTCTGGATGGGACCGAAGAC 0.493000 19 33 0 0 0.055883 0 0 GTPBP4 23560 broad.mit.edu 37 10 1041878 1041878 + Missense_Mutation SNP C C T TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr10:1041878C>T ENST00000360803.4 + 3 311 c.229C>T c.(229-231)Ccg>Tcg p.P77S GTPBP4_ENST00000491635.1_Intron|GTPBP4_ENST00000538293.1_Intron|GTPBP4_ENST00000545048.1_Missense_Mutation_p.P30S NM_012341.2 NP_036473.2 Q9BZE4 NOG1_HUMAN GTP binding protein 4 77 negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of collagen binding|negative regulation of DNA replication|negative regulation of protein ubiquitination|protein stabilization|regulation of cyclin-dependent protein kinase activity|ribosome biogenesis nucleolus|perinuclear region of cytoplasm GTP binding|GTPase activity|protein binding endometrium(2)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(1) 21 all_epithelial(10;0.107)|Colorectal(49;0.14) OV - Ovarian serous cystadenocarcinoma(33;0.0814) Epithelial(11;0.0513)|all cancers(11;0.135)|OV - Ovarian serous cystadenocarcinoma(14;0.173) GGATATTCATCCGTTCTATGC 0.413000 15 11 0 0 0.146539 0 0 NFAM1 150372 broad.mit.edu 37 22 42793927 42793927 + Silent SNP C C T TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr22:42793927C>T ENST00000329021.5 - 4 637 c.600G>A c.(598-600)agG>agA p.R200R NM_145912.5 NP_666017.1 Q8NET5 NFAM1_HUMAN NFAT activating protein with ITAM motif 1 200 B cell differentiation|inflammatory response|intracellular signal transduction|positive regulation of B cell receptor signaling pathway|positive regulation of cytokine production|positive regulation of sequence-specific DNA binding transcription factor activity integral to membrane|intracellular|plasma membrane transmembrane receptor activity large_intestine(1)|lung(3) 4 CTGGGCACTTCCTGGTGGGGT 0.627000 32 48 0 0 0.054565 0 0 ZMYM1 79830 broad.mit.edu 37 1 35580024 35580024 + Silent SNP C C T TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr1:35580024C>T ENST00000373330.1 + 11 2767 c.2593C>T c.(2593-2595)Ctg>Ttg p.L865L ZMYM1_ENST00000359858.4_Silent_p.L865L|ZMYM1_ENST00000373329.1_3'UTR Q5SVZ6 ZMYM1_HUMAN zinc finger, MYM-type 1 865 nucleus nucleic acid binding|protein dimerization activity|zinc ion binding NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(8)|prostate(3)|skin(1)|upper_aerodigestive_tract(2) 31 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) TTTGAAATTCCTGTATCGAGT 0.328000 15 20 0 0 0.119110 0 0 SLC8A3 6547 broad.mit.edu 37 14 70527578 70527578 + Silent SNP C C T TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr14:70527578C>T ENST00000381269.2 - 3 2616 c.1863G>A c.(1861-1863)ccG>ccA p.P621P SLC8A3_ENST00000357887.3_Intron|SLC8A3_ENST00000394330.2_Intron|SLC8A3_ENST00000356921.2_Silent_p.P621P|SLC8A3_ENST00000216568.7_5'UTR|SLC8A3_ENST00000528359.1_Intron|SLC8A3_ENST00000533899.1_5'UTR|SLC8A3_ENST00000534137.1_Silent_p.P621P|SLC8A3_ENST00000533541.1_Intron NM_058240.2|NM_183002.1 NP_489479.1|NP_892114.1 P57103 NAC3_HUMAN solute carrier family 8 (sodium/calcium exchanger), member 3 621 cell communication|platelet activation integral to membrane|plasma membrane calcium:sodium antiporter activity|calmodulin binding NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6) 54 BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555) CCATCCATTTCGGTTCACCAA 0.343000 23 37 0 0 0.091800 0 0 PCDHAC2 56134 broad.mit.edu 37 5 140348016 140348016 + Silent SNP G G A TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr5:140348016G>A ENST00000289269.5 + 1 2197 c.1665G>A c.(1663-1665)ggG>ggA p.G555G PCDHA9_ENST00000532602.1_Intron|PCDHAC1_ENST00000253807.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA4_ENST00000512229.2_Intron NM_018899.5|NM_031883.2 NP_061722.1|NP_114089.1 Q9Y5I4 PCDC2_HUMAN 555 Cadherin 5. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 45 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGGACAAGGGGAGCCCACCAC 0.512000 28 42 0 0 0.144211 0 0 UGT3A2 167127 broad.mit.edu 37 5 36049047 36049047 + Missense_Mutation SNP G G A TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr5:36049047G>A ENST00000282507.3 - 4 888 c.787C>T c.(787-789)Ccc>Tcc p.P263S UGT3A2_ENST00000513300.1_Missense_Mutation_p.P229S|UGT3A2_ENST00000545528.1_Intron|UGT3A2_ENST00000504954.1_Intron NM_174914.3 NP_777574.2 Q3SY77 UD3A2_HUMAN UDP glycosyltransferase 3 family, polypeptide A2 263 integral to membrane glucuronosyltransferase activity NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3) 43 all_lung(31;0.000179) Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) ACAGTGTTGGGAAGCAGAGGT 0.448000 26 31 0 0 0.099896 0 0 LANCL2 55915 broad.mit.edu 37 7 55433764 55433764 + Missense_Mutation SNP G G A TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr7:55433764G>A ENST00000254770.2 + 1 624 c.46G>A c.(46-48)Gag>Aag p.E16K NM_018697.3 NP_061167.1 Q9NS86 LANC2_HUMAN LanC lantibiotic synthetase component C-like 2 (bacterial) 16 negative regulation of transcription, DNA-dependent|positive regulation of abscisic acid mediated signaling pathway cortical actin cytoskeleton|cytosol|nucleus|plasma membrane ATP binding|catalytic activity|GTP binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4-phosphate binding|phosphatidylinositol-5-phosphate binding breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1) 25 Breast(14;0.0379) Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00128)|Epithelial(13;0.0706) CCTGGGAGGGGAGGCAGAAAT 0.701000 7 10 0 0 0.029380 0 0 PHKA2 5256 broad.mit.edu 37 X 18944674 18944674 + Silent SNP C C T TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chrX:18944674C>T ENST00000379942.4 - 14 2021 c.1356G>A c.(1354-1356)aaG>aaA p.K452K NM_000292.2 NP_000283.1 P46019 KPB2_HUMAN phosphorylase kinase, alpha 2 (liver) 452 glucose metabolic process|glycogen catabolic process cytosol|phosphorylase kinase complex|plasma membrane calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 61 Hepatocellular(33;0.183) TCAATAAGTCCTTAATGTGAT 0.453000 25 7 0 0 0.099896 0 0 RGP1 9827 broad.mit.edu 37 9 35749252 35749252 + Missense_Mutation SNP G G A TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr9:35749252G>A ENST00000456972.2 + 1 50 c.50G>A c.(49-51)aGg>aAg p.R17K GBA2_ENST00000545786.1_Intron Q92546 RGP1_HUMAN RGP1 retrograde golgi transport homolog (S. cerevisiae) 0 cervix(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 14 all_epithelial(49;0.167) Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194) CCGGCCGGAAGGGACTCCGCG 0.766000 4 0 0 0 0.009096 0 0 FOXR1 283150 broad.mit.edu 37 11 118849898 118849898 + Missense_Mutation SNP C C T TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr11:118849898C>T ENST00000317011.3 + 3 593 c.368C>T c.(367-369)tCc>tTc p.S123F NM_181721.2 NP_859072.1 Q6PIV2 FOXR1_HUMAN forkhead box R1 123 embryo development|organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1) 16 all_hematologic(175;0.0839) Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.62e-05) TTTGCCTTTTCCCCCAGCACC 0.597000 24 28 0 0 0.069288 0 0 TIGD2 166815 broad.mit.edu 37 4 90034207 90034207 + Missense_Mutation SNP T T C TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr4:90034207T>C ENST00000317005.2 + 1 240 c.82T>C c.(82-84)Ttc>Ctc p.F28L NM_145715.2 NP_663761.1 Q4W5G0 TIGD2_HUMAN tigger transposable element derived 2 28 HTH psq-type. regulation of transcription, DNA-dependent chromosome, centromeric region|nucleus DNA binding breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 14 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;3.86e-05) AGGCATCTCTTTCAAAAAACT 0.353000 22 45 0 0 0.055883 0 0 ASB4 51666 broad.mit.edu 37 7 95115312 95115312 + Missense_Mutation SNP A A T TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr7:95115312A>T ENST00000325885.5 + 1 100 c.29A>T c.(28-30)aAa>aTa p.K10I ASB4_ENST00000257621.4_Intron|ASB4_ENST00000428113.1_Missense_Mutation_p.K10I NM_016116.2 NP_057200.1 Q9Y574 ASB4_HUMAN ankyrin repeat and SOCS box containing 4 10 intracellular signal transduction central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|pancreas(1)|prostate(1)|skin(2) 20 all_cancers(62;2.27e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.218)|all_lung(186;0.246) STAD - Stomach adenocarcinoma(171;0.0151) CCTGTCACTAAATCTGGAGCT 0.468000 43 23 0 0 0.117977 0 0 FREM1 158326 broad.mit.edu 37 9 14759870 14759870 + Missense_Mutation SNP C C A TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr9:14759870C>A ENST00000380881.4 - 29 6052 c.5237G>T c.(5236-5238)tGg>tTg p.W1746L FREM1_ENST00000422223.2_Missense_Mutation_p.W1745L|FREM1_ENST00000380880.3_Missense_Mutation_p.W1745L|FREM1_ENST00000380894.1_Missense_Mutation_p.W281L|FREM1_ENST00000486223.1_5'UTR Q5H8C1 FREM1_HUMAN FRAS1 related extracellular matrix 1 1745 Calx-beta. cell communication|multicellular organismal development basement membrane|integral to membrane metal ion binding|sugar binding breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 GBM - Glioblastoma multiforme(50;3.53e-06) GGTCTGTGACCATTCAATATG 0.428000 35 149 2.40579e-17 2.76053e-17 0.086207 1 0 OR4K1 79544 broad.mit.edu 37 14 20404445 20404445 + Missense_Mutation SNP C C T TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr14:20404445C>T ENST00000285600.4 + 1 679 c.620C>T c.(619-621)tCa>tTa p.S207L NM_001004063.2 NP_001004063.2 Q8NGD4 OR4K1_HUMAN olfactory receptor, family 4, subfamily K, member 1 207 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1) 43 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00124) GGCCTGATATCATTGAGCTGT 0.433000 27 39 0 0 0.091800 0 0 ACSS3 79611 broad.mit.edu 37 12 81536910 81536910 + Missense_Mutation SNP C C T TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr12:81536910C>T ENST00000548058.1 + 5 1715 c.805C>T c.(805-807)Cgt>Tgt p.R269C ACSS3_ENST00000261206.3_Missense_Mutation_p.R268C Q9H6R3 ACSS3_HUMAN acyl-CoA synthetase short-chain family member 3 269 mitochondrion acetate-CoA ligase activity|ATP binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2) 51 GGCTCCCGGTCGTGACCTTGA 0.408000 11 25 0 0 0.080935 0 0 MLLT10 8028 broad.mit.edu 37 10 21962686 21962686 + Nonsense_Mutation SNP C C T TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr10:21962686C>T ENST00000377072.3 + 11 1807 c.1459C>T c.(1459-1461)Caa>Taa p.Q487* MLLT10_ENST00000377059.3_Nonsense_Mutation_p.Q487*|MLLT10_ENST00000307729.7_Nonsense_Mutation_p.Q487*|MLLT10_ENST00000446906.2_Nonsense_Mutation_p.Q487* NM_004641.3 NP_004632.1 P55197 AF10_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10 487 DNA-binding. positive regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1) 6 AAACAAAAATCAAGAGAATGT 0.403000 T """MLL, PICALM, CDK6""" AL 32 43 0 0 0.144211 0 0 NOTCH3 4854 broad.mit.edu 37 19 15276800 15276800 + Missense_Mutation SNP G G A TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr19:15276800G>A ENST00000263388.2 - 30 5540 c.5465C>T c.(5464-5466)tCc>tTc p.S1822F NM_000435.2 NP_000426.2 Q9UM47 NOTC3_HUMAN notch 3 1822 Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 93 OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15) GATCAGGTCGGAGATGATGCT 0.607000 11 33 0 0 0.093190 0 0 OR8D2 283160 broad.mit.edu 37 11 124189546 124189546 + Missense_Mutation SNP G G A TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr11:124189546G>A ENST00000357438.2 - 1 638 c.548C>T c.(547-549)cCc>cTc p.P183L NM_001002918.1 NP_001002918.1 Q9GZM6 OR8D2_HUMAN olfactory receptor, family 8, subfamily D, member 2 183 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 25 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0525) AGTCAATAAGGGGAGAATATC 0.448000 6 53 0 0 0.021553 0 0 MFSD10 10227 broad.mit.edu 37 4 2933366 2933366 + Silent SNP G G A TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr4:2933366G>A ENST00000329687.4 - 8 1473 c.939C>T c.(937-939)ttC>ttT p.F313F MFSD10_ENST00000507555.1_Intron|MFSD10_ENST00000508221.1_Silent_p.F313F|MFSD10_ENST00000514800.1_Silent_p.F313F|MFSD10_ENST00000355443.4_Silent_p.F313F NM_001120.4 NP_001111.3 Q14728 MFS10_HUMAN major facilitator superfamily domain containing 10 313 apoptosis integral to membrane tetracycline transporter activity breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|skin(1) 7 UCEC - Uterine corpus endometrioid carcinoma (64;0.163) GGCCGATGAGGAAAAACATCT 0.682000 10 9 0 0 0.058154 0 0 NBPF10 100132406 broad.mit.edu 37 1 145367739 145367739 + Silent SNP A A G rs146714035 by1000genomes TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr1:145367739A>G ENST00000342960.5 + 83 10370 c.10335A>G c.(10333-10335)aaA>aaG p.K3445K NBPF10_ENST00000369339.2_Intron|NBPF10_ENST00000369338.1_Intron NM_001039703.4 NP_001034792.4 A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 3445 p.K3445K(4) NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) ggaaggggaaaaaaagaaggg 0.413000 3 79 0 0 0.115264 0 0 LDHB 3945 broad.mit.edu 37 12 21797036 21797036 + Missense_Mutation SNP G G A TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr12:21797036G>A ENST00000396076.1 - 4 586 c.254C>T c.(253-255)tCt>tTt p.S85F LDHB_ENST00000350669.1_Missense_Mutation_p.S85F NM_001174097.1 NP_001167568.1 P07195 LDHB_HUMAN lactate dehydrogenase B 85 glycolysis|pyruvate metabolic process cytosol L-lactate dehydrogenase activity breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2) 26 NADH(DB00157) GGCAGTCACAGAATAATCTTT 0.373000 13 17 0 0 0.105934 0 0 HRC 3270 broad.mit.edu 37 19 49657828 49657828 + Missense_Mutation SNP C C T rs139799783 TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr19:49657828C>T ENST00000252825.4 - 1 853 c.667G>A c.(667-669)Gag>Aag p.E223K HRC_ENST00000595625.1_Missense_Mutation_p.E223K NM_002152.2 NP_002143.1 P23327 SRCH_HUMAN histidine rich calcium binding protein 223 4 X tandem repeats, acidic.|6 X approximate tandem repeats. muscle contraction sarcoplasmic reticulum lumen calcium ion binding endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2) 34 all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392) all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622) TCCTCATCCTCTTCACTCCCA 0.547000 12 20 0 0 0.080935 0 0 GLRA2 2742 broad.mit.edu 37 X 14625263 14625263 + Silent SNP G G A rs113271440 TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chrX:14625263G>A ENST00000218075.4 + 6 1118 c.588G>A c.(586-588)acG>acA p.T196T GLRA2_ENST00000443437.2_Silent_p.T107T|GLRA2_ENST00000355020.4_Silent_p.T196T NM_002063.3 NP_002054.1 P23416 GLRA2_HUMAN glycine receptor, alpha 2 196 neuropeptide signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity p.T196T(2) breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(22)|ovary(1)|prostate(1)|skin(2) 37 Hepatocellular(33;0.128) Ethanol(DB00898)|Glycine(DB00145) TTGGGTACACGATGAATGACC 0.388000 29 8 0 0 0.045705 0 0 SSH1 54434 broad.mit.edu 37 12 109186226 109186226 + Missense_Mutation SNP G G A TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr12:109186226G>A ENST00000326495.5 - 14 1822 c.1729C>T c.(1729-1731)Ccc>Tcc p.P577S SSH1_ENST00000360239.3_Missense_Mutation_p.P265S|SSH1_ENST00000551165.1_Missense_Mutation_p.P577S|SSH1_ENST00000326470.5_Missense_Mutation_p.P588S NM_018984.3 NP_061857.3 Q8WYL5 SSH1_HUMAN slingshot protein phosphatase 1 577 actin cytoskeleton organization|cell morphogenesis|cellular response to ATP|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of cellular protein metabolic process|regulation of lamellipodium assembly cleavage furrow|cytoplasm|cytoskeleton|lamellipodium|midbody|plasma membrane actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 CGACCTTTGGGACTCCCAAAC 0.617000 42 49 0 0 0.086207 0 0 PCDHAC1 56135 broad.mit.edu 37 5 140307888 140307888 + Missense_Mutation SNP G G A TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr5:140307888G>A ENST00000253807.2 + 1 1411 c.1411G>A c.(1411-1413)Gac>Aac p.D471N PCDHA9_ENST00000532602.1_Intron|PCDHAC1_ENST00000409700.3_Missense_Mutation_p.D471N|PCDHA12_ENST00000398631.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA4_ENST00000512229.2_Intron NM_018898.3 NP_061721.2 NS(2)|breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4) 65 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GTTTGCCCAGGACCCCGACCT 0.522000 52 64 0 0 0.139131 0 0 THSD7B 80731 broad.mit.edu 37 2 137814319 137814319 + Missense_Mutation SNP G G A TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr2:137814319G>A ENST00000409968.1 + 3 647 c.469G>A c.(469-471)Gaa>Aaa p.E157K THSD7B_ENST00000543459.1_Missense_Mutation_p.E16K|THSD7B_ENST00000272643.3_Missense_Mutation_p.E157K|THSD7B_ENST00000413152.2_Missense_Mutation_p.E126K thrombospondin, type I, domain containing 7B NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 134 BRCA - Breast invasive adenocarcinoma(221;0.19) GGTTGCAAATGAAATATGCGA 0.522000 37 97 0 0 0.069456 0 0 IGKV2D-29 28882 broad.mit.edu 37 2 89987048 89987048 + RNA SNP T T A TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr2:89987048T>A ENST00000491977.1 + 0 359 GATGTTGGGGTTTATTACTGC 0.532000 12 215 0 0 0.080935 0 0 MFSD9 84804 broad.mit.edu 37 2 103353173 103353173 + Missense_Mutation SNP C C T TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr2:103353173C>T ENST00000258436.5 - 1 140 c.97G>A c.(97-99)Gag>Aag p.E33K NM_032718.3 NP_116107.3 Q8NBP5 MFSD9_HUMAN major facilitator superfamily domain containing 9 33 transmembrane transport integral to membrane|plasma membrane transporter activity breast(3)|large_intestine(7)|liver(1)|lung(6)|ovary(2)|skin(1) 20 TCGGCAGCCTCCGCCTCGGTT 0.657000 35 19 0 0 0.069456 0 0 ZNF777 27153 broad.mit.edu 37 7 149152756 149152756 + Missense_Mutation SNP G G A TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr7:149152756G>A ENST00000247930.4 - 2 681 c.358C>T c.(358-360)Cac>Tac p.H120Y NM_015694.2 NP_056509.2 Q9ULD5 ZN777_HUMAN zinc finger protein 777 120 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(5)|lung(17)|ovary(1)|skin(2)|urinary_tract(1) 26 Melanoma(164;0.165) OV - Ovarian serous cystadenocarcinoma(82;0.00358) TGGGGGGAGTGGGAGAGAAGG 0.607000 38 291 0 0 0.139131 0 0 GLI2 2736 broad.mit.edu 37 2 121745822 121745822 + Missense_Mutation SNP G G A TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr2:121745822G>A ENST00000452319.1 + 14 2392 c.2332G>A c.(2332-2334)Ggg>Agg p.G778R GLI2_ENST00000361492.4_Missense_Mutation_p.G778R|GLI2_ENST00000314490.11_Missense_Mutation_p.G450R P10070 GLI2_HUMAN GLI family zinc finger 2 778 axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 Renal(3;0.0496) Prostate(154;0.0623) Tgggggcggcgggcccgcggg 0.697000 14 9 0 0 0.132662 0 0 EPG5 57724 broad.mit.edu 37 18 43432602 43432602 + Missense_Mutation SNP G G A TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr18:43432602G>A ENST00000282041.5 - 44 7604 c.7570C>T c.(7570-7572)Ctt>Ttt p.L2524F NM_020964.2 NP_066015.2 Q9HCE0 EPG5_HUMAN ectopic P-granules autophagy protein 5 homolog (C. elegans) 2524 autophagy NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 95 ATGGATTCAAGAGCATTCAGA 0.443000 14 27 0 0 0.132662 0 0 TMPRSS11B 132724 broad.mit.edu 37 4 69093746 69093746 + Silent SNP G G A TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr4:69093746G>A ENST00000332644.5 - 10 1295 c.1134C>T c.(1132-1134)atC>atT p.I378I NM_182502.3 NP_872308.2 Q86T26 TM11B_HUMAN transmembrane protease, serine 11B 378 Peptidase S1. proteolysis extracellular region|integral to plasma membrane serine-type endopeptidase activity breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1) 27 CAAGATGCCAGATATTTCTGG 0.368000 21 16 0 0 0.055883 0 0 SEC14L4 284904 broad.mit.edu 37 22 30887843 30887843 + Silent SNP G G A TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr22:30887843G>A ENST00000392772.2 - 10 1004 c.727C>T c.(727-729)Ctg>Ttg p.L243L SEC14L4_ENST00000540456.1_Silent_p.L282L|SEC14L4_ENST00000255858.7_Silent_p.L297L|SEC14L4_ENST00000381982.3_Silent_p.L297L|RP4-539M6.14_ENST00000442126.1_RNA Q9UDX3 S14L4_HUMAN SEC14-like 4 (S. cerevisiae) 297 CRAL-TRIO. integral to membrane|intracellular lipid binding|transporter activity breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|pancreas(1)|skin(1) 21 Vitamin E(DB00163) CCCGGGAACAGGATCTCGTTC 0.657000 10 13 0 0 0.069234 0 0 FCHO1 23149 broad.mit.edu 37 19 17892342 17892342 + Missense_Mutation SNP G G A TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr19:17892342G>A ENST00000594202.1 + 22 2101 c.1822G>A c.(1822-1824)Gga>Aga p.G608R FCHO1_ENST00000595033.1_Missense_Mutation_p.G558R|FCHO1_ENST00000596536.1_Missense_Mutation_p.G608R|FCHO1_ENST00000539407.1_Missense_Mutation_p.G608R|FCHO1_ENST00000600676.1_Missense_Mutation_p.G608R|FCHO1_ENST00000596951.1_Missense_Mutation_p.G608R|FCHO1_ENST00000389133.4_Missense_Mutation_p.G608R|FCHO1_ENST00000252771.7_Missense_Mutation_p.G608R|FCHO1_ENST00000597512.1_Missense_Mutation_p.G615R NM_001161357.1 NP_001154829.1 O14526 FCHO1_HUMAN FCH domain only 1 608 NS(2)|breast(1)|large_intestine(6)|liver(1)|lung(12) 22 ATCCCAGACAGGACACGGTAT 0.612000 24 33 0 0 0.083992 0 0 FAF1 11124 broad.mit.edu 37 1 50957438 50957439 + Frame_Shift_Del DEL CT CT - TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr1:50957438_50957439delCT ENST00000396153.2 - 16 1980_1981 c.1529_1530delAG c.(1528-1530)gfs p.E510fs FAF1_ENST00000545823.1_Frame_Shift_Del_p.E268fs|FAF1_ENST00000371778.4_Frame_Shift_Del_p.E510fs NM_007051.2 NP_008982.1 Q9UNN5 FAF1_HUMAN Fas (TNFRSF6) associated factor 1 510 apoptosis|cytoplasmic sequestering of NF-kappaB|positive regulation of apoptosis|positive regulation of protein complex assembly|proteasomal ubiquitin-dependent protein catabolic process|regulation of protein catabolic process CD95 death-inducing signaling complex|cytosol|perinuclear region of cytoplasm heat shock protein binding|NF-kappaB binding|protein kinase binding|protein kinase regulator activity breast(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|pancreas(2)|upper_aerodigestive_tract(1) 24 GBM - Glioblastoma multiforme(3;3.18e-11)|all cancers(3;0.00526) CCTCATCTTGCTCTCTCTTCAC 0.332 18 67 --- --- --- --- ZCCHC11 23318 broad.mit.edu 37 1 52962697 52962697 + Frame_Shift_Del DEL A A - TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr1:52962697delA ENST00000371544.3 - 5 1420 c.1158delT c.(1156-1158)gtfs p.V386fs ZCCHC11_ENST00000257177.4_Frame_Shift_Del_p.V386fs|ZCCHC11_ENST00000371541.1_5'UTR NM_001009881.2|NM_015269.2 NP_001009881.1|NP_056084.1 Q5TAX3 TUT4_HUMAN zinc finger, CCHC domain containing 11 386 miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance cytoplasm|nucleolus nucleic acid binding|protein binding|RNA uridylyltransferase activity|zinc ion binding NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 58 ATGTCGTTATAACCTTTGACA 0.348 18 38 --- --- --- --- LPPR4 9890 broad.mit.edu 37 1 99771243 99771244 + Frame_Shift_Ins INS - - TT TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr1:99771243_99771244insTT ENST00000370185.3 + 7 1466_1467 c.969_970insTT c.(967-972)ggtgtafs p.V324fs LPPR4_ENST00000457765.1_Frame_Shift_Ins_p.V266fs|LPPR4_ENST00000370184.1_Frame_Shift_Ins_p.V166fs NM_014839.4 NP_055654.2 Q7Z2D5 LPPR4_HUMAN 324 phosphatidate phosphatase activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 72 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) AACACTAGGGCTTGTATGCTGT 0.450 54 85 --- --- --- --- SMG7 9887 broad.mit.edu 37 1 183515266 183515267 + Frame_Shift_Ins INS - - A TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr1:183515266_183515267insA ENST00000367537.3 + 18 2680_2681 c.2485_2486insA c.(2485-2487)aaafs p.K829fs SMG7_ENST00000515829.2_Frame_Shift_Ins_p.K800fs|SMG7_ENST00000347615.2_Frame_Shift_Ins_p.K846fs|SMG7_ENST00000508461.1_Frame_Shift_Ins_p.K804fs|SMG7_ENST00000507469.1_Frame_Shift_Ins_p.K800fs|SMG7_ENST00000456731.2_Frame_Shift_Ins_p.K758fs Q92540 SMG7_HUMAN SMG7 nonsense mediated mRNA decay factor 846 Gln/Pro-rich. mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation cytoplasm|intermediate filament cytoskeleton|nucleus protein phosphatase 2A binding p.?(1) breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 46 GCAGCCTCTAGAAAAAAAAATG 0.450 7 60 --- --- --- --- SLC20A1 6574 broad.mit.edu 37 2 113416627 113416628 + Frame_Shift_Ins INS - - C TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr2:113416627_113416628insC ENST00000272542.3 + 7 1543_1544 c.1004_1005insC c.(1003-1005)agtfs p.S335fs SLC20A1_ENST00000480984.1_3'UTR NM_005415.4 NP_005406.3 Q8WUM9 S20A1_HUMAN solute carrier family 20 (phosphate transporter), member 1 335 phosphate metabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade integral to plasma membrane inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|skin(1)|urinary_tract(3) 28 AGGCTTCCCAGCGTGGACTTGA 0.520 22 81 --- --- --- --- FABP4 2167 broad.mit.edu 37 8 82395447 82395457 + Translation_Start_Site DEL GCAGTTTTCAG GCAGTTTTCAG - TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr8:82395447_82395457delGCAGTTTTCAG ENST00000256104.4 - 0 41_51 RP11-157I4.4_ENST00000524085.2_RNA|FABP4_ENST00000518669.1_5'UTR NM_001442.2 NP_001433.1 P15090 FABP4_HUMAN fatty acid binding protein 4, adipocyte triglyceride catabolic process cytoplasm|nucleus|soluble fraction fatty acid binding|protein binding|transporter activity breast(2)|central_nervous_system(1)|large_intestine(1)|ovary(1)|skin(1) 6 Epithelial(68;0.213) GAAGGAAGCTGCAGTTTTCAGGAGGGTGCTG 0.403 6 9 --- --- --- --- HUWE1 10075 broad.mit.edu 37 X 53574783 53574785 + In_Frame_Del DEL GTG GTG - TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chrX:53574783_53574785delGTG ENST00000342160.3 - 67 10942_10944 c.10485_10487delCAC c.(10483-10488)act>ac p.TT3495del HUWE1_ENST00000474288.1_5'UTR|HUWE1_ENST00000262854.6_In_Frame_Del_p.TT3495del Q7Z6Z7 HUWE1_HUMAN HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase 3495 Thr-rich. base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus DNA binding|protein binding|ubiquitin-protein ligase activity NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2) 153 ggaggcggcagtggtggtggtgg 0.591 2 4 --- --- --- ---