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 SDK2 54549 broad.mit.edu 37 17 71354224 71354224 + Missense_Mutation SNP G G A TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr17:71354224G>A ENST00000392650.3 - 40 5587 c.5587C>T c.(5587-5589)Cct>Tct p.P1863S SDK2_ENST00000410094.1_5'UTR|SDK2_ENST00000388726.3_Missense_Mutation_p.P1844S NM_001144952.1 NP_001138424.1 Q58EX2 SDK2_HUMAN sidekick cell adhesion molecule 2 1863 Fibronectin type-III 13. cell adhesion integral to membrane breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 86 GCACCTGAAGGTCTGGCCTCG 0.647000 47 220 0 0 1 0 0 AEBP1 165 broad.mit.edu 37 7 44147453 44147453 + Missense_Mutation SNP G G A TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr7:44147453G>A ENST00000223357.3 + 5 1090 c.785G>A c.(784-786)aGa>aAa p.R262K NM_001129.3 NP_001120.3 Q8IUX7 AEBP1_HUMAN AE binding protein 1 262 Pro-rich. cell adhesion|muscle organ development|proteolysis|skeletal system development cytoplasm|extracellular space|nucleus DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2) 33 CCCCCAAGCAGAAGGAGGAGG 0.682000 7 37 0 0 1 0 0 SORCS2 57537 broad.mit.edu 37 4 7736087 7736087 + Silent SNP C C G TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr4:7736087C>G ENST00000507866.2 + 25 3406 c.3297C>G c.(3295-3297)ctC>ctG p.L1099L SORCS2_ENST00000329016.9_Silent_p.L927L NM_020777.2 NP_065828.2 Q96PQ0 SORC2_HUMAN sortilin-related VPS10 domain containing receptor 2 1099 integral to membrane neuropeptide receptor activity autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 42 CCTTCATCCTCTACAAGTTCA 0.617000 6 10 0 0 1 0 0 MPI 4351 broad.mit.edu 37 15 75185013 75185013 + Missense_Mutation SNP G G C TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr15:75185013G>C ENST00000352410.4 + 4 424 c.357G>C c.(355-357)gaG>gaC p.E119D MPI_ENST00000566377.1_Missense_Mutation_p.E119D|MPI_ENST00000323744.6_Missense_Mutation_p.E119D|MPI_ENST00000563786.1_Missense_Mutation_p.E99D|MPI_ENST00000564003.1_Missense_Mutation_p.E69D|MPI_ENST00000563422.1_Missense_Mutation_p.E119D|MPI_ENST00000535694.1_Missense_Mutation_p.E69D|MPI_ENST00000565576.1_Missense_Mutation_p.E119D|MPI_ENST00000562606.1_Missense_Mutation_p.E99D P34949 MPI_HUMAN mannose phosphate isomerase 119 dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine cytosol mannose-6-phosphate isomerase activity|zinc ion binding endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|upper_aerodigestive_tract(1) 9 AGCTGGCAGAGAAGCTGCACC 0.632000 5 47 0 0 1 0 0 SPAST 6683 broad.mit.edu 37 2 32362026 32362026 + Missense_Mutation SNP G G C TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr2:32362026G>C ENST00000315285.3 + 11 1527 c.1402G>C c.(1402-1404)Gaa>Caa p.E468Q SPAST_ENST00000345662.1_Missense_Mutation_p.E436Q NM_014946.3 NP_055761.2 Q9UBP0 SPAST_HUMAN spastin 468 Sufficient for microtubule severing. cell cycle|cell death|cell differentiation|cytokinesis, completion of separation|ER to Golgi vesicle-mediated transport|microtubule bundle formation|microtubule severing|nervous system development|protein hexamerization|protein homooligomerization endoplasmic reticulum|endosome|integral to membrane|microtubule|microtubule organizing center|nucleus|perinuclear region of cytoplasm|spindle alpha-tubulin binding|ATP binding|beta-tubulin binding|microtubule binding|microtubule-severing ATPase activity breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(8)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208) ATTTCTAATAGAATTTGATGG 0.313000 4 19 0 0 1 0 0 RBM41 55285 broad.mit.edu 37 X 106331704 106331704 + Missense_Mutation SNP G G A TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chrX:106331704G>A ENST00000372487.1 - 5 915 c.889C>T c.(889-891)Cct>Tct p.P297S RBM41_ENST00000372479.3_Missense_Mutation_p.P297S|RBM41_ENST00000203616.8_Intron NM_001171080.1 NP_001164551.1 Q96IZ5 RBM41_HUMAN RNA binding motif protein 41 297 nucleotide binding|RNA binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1) 13 GAAAACATAGGAATTTTTCGG 0.408000 10 94 0 0 1 0 0 ACSM2B 348158 broad.mit.edu 37 16 20559780 20559780 + Missense_Mutation SNP G G A TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr16:20559780G>A ENST00000329697.6 - 7 1078 c.910C>T c.(910-912)Cca>Tca p.P304S ACSM2B_ENST00000567001.1_Missense_Mutation_p.P304S|ACSM2B_ENST00000565232.1_Missense_Mutation_p.P304S|ACSM2B_ENST00000565322.1_Missense_Mutation_p.P225S|ACSM2B_ENST00000567288.1_5'UTR NM_001105069.1 NP_001098539.1 Q68CK6 ACS2B_HUMAN acyl-CoA synthetase medium-chain family member 2B 304 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 CTCTTGATTGGATAACTGGAG 0.478000 6 68 0 0 1 0 0 ENOX1 55068 broad.mit.edu 37 13 43930175 43930175 + Missense_Mutation SNP G G T TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr13:43930175G>T ENST00000261488.6 - 8 1280 c.703C>A c.(703-705)Cgt>Agt p.R235S ENOX1_ENST00000412891.1_Missense_Mutation_p.R235S|ENOX1_ENST00000540032.1_Missense_Mutation_p.R48S NM_001242863.1|NM_017993.3 NP_001229792.1|NP_060463.2 Q8TC92 ENOX1_HUMAN ecto-NOX disulfide-thiol exchanger 1 235 electron transport chain|rhythmic process|transport extracellular space|plasma membrane nucleic acid binding|nucleotide binding|oxidoreductase activity breast(1)|endometrium(3)|large_intestine(7)|lung(18)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(1) 34 Lung NSC(96;0.000518)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Lung SC(185;0.0367)|Breast(139;0.0406) GBM - Glioblastoma multiforme(144;0.00333)|BRCA - Breast invasive adenocarcinoma(63;0.172) TCCCGGGCACGCATCCTCTGC 0.612000 29 98 4.59853e-10 5.98341e-10 1 1 0 ZNF667 63934 broad.mit.edu 37 19 56953784 56953784 + Missense_Mutation SNP G G C TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr19:56953784G>C ENST00000504904.3 - 7 1299 c.580C>G c.(580-582)Cac>Gac p.H194D ZNF667_ENST00000342634.3_Missense_Mutation_p.H322D|ZNF667_ENST00000292069.6_Missense_Mutation_p.H194D|ZNF667_ENST00000591790.1_3'UTR Q5HYK9 ZN667_HUMAN zinc finger protein 667 194 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3) 38 Colorectal(82;0.000256)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0615) TTTCCACTGTGAATTCTCTGA 0.363000 15 56 0 0 1 0 0 EDC4 23644 broad.mit.edu 37 16 67917910 67917910 + Silent SNP G G T TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr16:67917910G>T ENST00000358933.5 + 29 4304 c.4065G>T c.(4063-4065)cgG>cgT p.R1355R CTC-479C5.10_ENST00000572067.1_RNA NM_014329.4 NP_055144.3 Q6P2E9 EDC4_HUMAN enhancer of mRNA decapping 4 1355 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay cytoplasmic mRNA processing body|cytosol|nucleus protein binding breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2) 41 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121) CCATCACTCGGGACCACATGG 0.607000 OREG0023890 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 11 45 2.80697e-09 3.5629e-09 1 1 0 ZNF665 79788 broad.mit.edu 37 19 53668841 53668841 + Missense_Mutation SNP T T C TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr19:53668841T>C ENST00000600412.1 - 2 822 c.707A>G c.(706-708)cAa>cGa p.Q236R ZNF665_ENST00000396424.3_Missense_Mutation_p.Q301R Q9H7R5 ZN665_HUMAN zinc finger protein 665 236 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 35 GBM - Glioblastoma multiforme(134;0.0196) GTGTGAATTTTGAGTGAAGCA 0.423000 40 92 0 0 1 0 0 SMC4 10051 broad.mit.edu 37 3 160148457 160148457 + Missense_Mutation SNP G G A TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr3:160148457G>A ENST00000357388.3 + 19 3317 c.2866G>A c.(2866-2868)Gat>Aat p.D956N SMC4_ENST00000462787.1_Missense_Mutation_p.D956N|SMC4_ENST00000469762.1_Missense_Mutation_p.D931N|SMC4_ENST00000360111.2_Missense_Mutation_p.D956N|RP11-432B6.3_ENST00000483754.1_Intron|SMC4_ENST00000344722.5_Missense_Mutation_p.D956N NM_001002800.1 NP_001002800.1 Q9NTJ3 SMC4_HUMAN structural maintenance of chromosomes 4 956 cell division|mitotic chromosome condensation condensin complex|cytoplasm|nucleus ATP binding|protein heterodimerization activity breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(15)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523) GAAAGAGGTGGATGACCTAAC 0.398000 6 42 0 0 1 0 0 USHBP1 83878 broad.mit.edu 37 19 17367437 17367437 + Missense_Mutation SNP A A G TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr19:17367437A>G ENST00000252597.3 - 9 1486 c.1313T>C c.(1312-1314)cTa>cCa p.L438P USHBP1_ENST00000431146.2_Missense_Mutation_p.L374P NM_031941.3 NP_114147.2 Q8N6Y0 USBP1_HUMAN Usher syndrome 1C binding protein 1 438 PDZ domain binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(10)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 44 AATCTTCATTAGAGAACGGCG 0.602000 44 83 0 0 1 0 0 RYR3 6263 broad.mit.edu 37 15 34047319 34047319 + Missense_Mutation SNP A A G TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr15:34047319A>G ENST00000389232.4 + 58 8523 c.8453A>G c.(8452-8454)tAt>tGt p.Y2818C RYR3_ENST00000415757.3_Missense_Mutation_p.Y2818C NM_001036.3 NP_001027.3 Q15413 RYR3_HUMAN ryanodine receptor 3 2818 4 X approximate repeats. cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3) 311 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) AGGTTTGCCTATAAGTTCTTG 0.413000 3 16 0 0 1 0 0 MEPCE 56257 broad.mit.edu 37 7 100028994 100028994 + Silent SNP C C T TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr7:100028994C>T ENST00000310512.2 + 1 1741 c.1353C>T c.(1351-1353)ggC>ggT p.G451G MEPCE_ENST00000414441.1_5'UTR NM_019606.5 NP_062552.2 Q7L2J0 MEPCE_HUMAN methylphosphate capping enzyme 451 Bin3-type SAM.|S-adenosyl-L-methionine binding. methyltransferase activity breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(9)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 24 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) TAGATCTGGGCTGCAATGTGG 0.602000 12 87 0 0 1 0 0 KRT74 121391 broad.mit.edu 37 12 52961996 52961996 + Nonsense_Mutation SNP C C A TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr12:52961996C>A ENST00000549343.1 - 8 1392 c.1354G>T c.(1354-1356)Gag>Tag p.E452* KRT74_ENST00000305620.2_Nonsense_Mutation_p.E438* Q7RTS7 K2C74_HUMAN keratin 74 438 Tail. keratin filament structural molecule activity kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 28 BRCA - Breast invasive adenocarcinoma(357;0.191) GTGGCAATCTCCATGTCCAGG 0.647000 20 107 2.4624e-09 3.13142e-09 1 1 0 GP5 2814 broad.mit.edu 37 3 194118339 194118339 + Missense_Mutation SNP A A T TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr3:194118339A>T ENST00000401815.1 - 1 744 c.673T>A c.(673-675)Ttc>Atc p.F225I GP5_ENST00000323007.3_Missense_Mutation_p.F225I P40197 GPV_HUMAN glycoprotein V (platelet) 225 blood coagulation, intrinsic pathway|cell adhesion|platelet activation integral to plasma membrane breast(3)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(14)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1) 35 all_cancers(143;6.64e-09)|Ovarian(172;0.0634) Melanoma(1037;0.211) OV - Ovarian serous cystadenocarcinoma(49;7.38e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;4.06e-05) TTTCGGTGGAACTGCAGCTCC 0.587000 29 208 0 0 1 0 0 TCF20 6942 broad.mit.edu 37 22 42605682 42605682 + Missense_Mutation SNP T T A TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr22:42605682T>A ENST00000359486.3 - 1 5766 c.5630A>T c.(5629-5631)gAa>gTa p.E1877V TCF20_ENST00000404876.1_Missense_Mutation_p.E178V|TCF20_ENST00000335626.4_Missense_Mutation_p.E1877V NM_005650.1 NP_005641.1 Q9UGU0 TCF20_HUMAN transcription factor 20 (AR1) 1877 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|transcription coactivator activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5) 66 TTCCAGCGCTTCCTGCAGGCC 0.438000 21 121 0 0 1 0 0 RP11-337C18.8 0 broad.mit.edu 37 1 146650897 146650897 + RNA SNP A A C TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr1:146650897A>C ENST00000607149.1 + 0 350 ATTGAATTTTATGCCCCTTGG 0.423000 5 35 0 0 1 0 0 GZF1 64412 broad.mit.edu 37 20 23350781 23350781 + Silent SNP G G T TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr20:23350781G>T ENST00000338121.5 + 6 1916 c.1839G>T c.(1837-1839)tcG>tcT p.S613S GZF1_ENST00000377051.2_Silent_p.S613S|GZF1_ENST00000544236.1_Silent_p.S137S|GZF1_ENST00000542987.1_Silent_p.S122S Q9H116 GZF1_HUMAN GDNF-inducible zinc finger protein 1 613 transcription, DNA-dependent nucleolus|nucleoplasm sequence-specific DNA binding|zinc ion binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|urinary_tract(2) 24 Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135) TAGATGGCTCGCCCAAGAACG 0.418000 8 47 0.000442599 0.000476537 1 1 0 MCMDC2 157777 broad.mit.edu 37 8 67809079 67809079 + Missense_Mutation SNP C C T TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr8:67809079C>T ENST00000422365.2 + 12 1682 c.1511C>T c.(1510-1512)tCa>tTa p.S504L MCMDC2_ENST00000396592.3_Missense_Mutation_p.S504L|MCMDC2_ENST00000313616.5_Missense_Mutation_p.S504L|MCMDC2_ENST00000541540.1_Missense_Mutation_p.S441L NM_173518.4 NP_775789.3 Q4G0Z9 CH045_HUMAN minichromosome maintenance domain containing 2 504 DNA replication ATP binding|DNA binding endometrium(2)|kidney(2)|lung(5) 9 TGCAACGAGTCATCTCCCTGC 0.418000 19 206 0 0 1 0 0 TRRAP 8295 broad.mit.edu 37 7 98515156 98515156 + Missense_Mutation SNP A A G TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr7:98515156A>G ENST00000359863.4 + 20 2685 c.2476A>G c.(2476-2478)Atg>Gtg p.M826V TRRAP_ENST00000446306.3_Missense_Mutation_p.M825V|TRRAP_ENST00000355540.3_Missense_Mutation_p.M826V NM_001244580.1 NP_001231509.1 Q9Y4A5 TRRAP_HUMAN transformation/transcription domain-associated protein 826 histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2) 176 all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274) STAD - Stomach adenocarcinoma(171;0.215) GTACCTGCCCATGCTTATGGA 0.582000 15 146 0 0 1 0 0 WNT8A 7478 broad.mit.edu 37 5 137419793 137419793 + Silent SNP T T C TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr5:137419793T>C ENST00000398754.1 + 1 20 c.15T>C c.(13-15)ttT>ttC p.F5F WNT8A_ENST00000506684.1_5'UTR NM_058244.2 NP_490645.1 Q9H1J5 WNT8A_HUMAN wingless-type MMTV integration site family, member 8A 5 brain segmentation|canonical Wnt receptor signaling pathway involved in neural crest cell differentiation|cell migration involved in gastrulation|dorsal/ventral pattern formation|ectoderm development|endoderm development|eye development|hindbrain development|mesodermal cell fate commitment|negative regulation of Wnt receptor signaling pathway|neural crest cell fate commitment|neural plate pattern specification|notochord development|palate development|polarity specification of anterior/posterior axis|polarity specification of proximal/distal axis|positive regulation of fibroblast growth factor receptor signaling pathway|regulation of transcription involved in anterior/posterior axis specification|response to retinoic acid|somitogenesis|spinal cord anterior/posterior patterning|tail morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway extracellular space|plasma membrane|proteinaceous extracellular matrix frizzled binding|signal transducer activity breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(2) 18 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109) GGAACCTGTTTATGCTCTGGG 0.577000 8 69 0 0 1 0 0 VPS33A 65082 broad.mit.edu 37 12 122726942 122726942 + Silent SNP G G A TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr12:122726942G>A ENST00000267199.4 - 8 1195 c.1083C>T c.(1081-1083)atC>atT p.I361I RP11-512M8.5_ENST00000535844.1_Silent_p.I322I NM_022916.4 NP_075067.2 Q96AX1 VP33A_HUMAN vacuolar protein sorting 33 homolog A (S. cerevisiae) 361 lysosome localization|melanosome localization|platelet formation|protein transport|regulation of developmental pigmentation|vesicle docking involved in exocytosis early endosome|late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm protein binding NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(13)|ovary(1)|skin(2) 28 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000336)|Epithelial(86;0.000606)|BRCA - Breast invasive adenocarcinoma(302;0.23) TGACATCTTTGATCAATTCTG 0.473000 10 90 0 0 1 0 0 KCNT2 343450 broad.mit.edu 37 1 196577426 196577426 + Missense_Mutation SNP T T G TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr1:196577426T>G ENST00000367433.5 - 1 115 c.14A>C c.(13-15)gAg>gCg p.E5A KCNT2_ENST00000367431.4_Missense_Mutation_p.E5A|KCNT2_ENST00000451324.2_5'UTR|KCNT2_ENST00000294725.8_Missense_Mutation_p.E5A Q6UVM3 KCNT2_HUMAN potassium channel, subfamily T, member 2 5 voltage-gated potassium channel complex ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1) 97 CACTTCGCTCTCCAAATCAAC 0.512000 9 61 0 0 1 0 0 CACNA1B 774 broad.mit.edu 37 9 141014743 141014743 + Missense_Mutation SNP C C T TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr9:141014743C>T ENST00000277549.5 + 45 6308 c.3739C>T c.(3739-3741)Cac>Tac p.H1247Y CACNA1B_ENST00000371363.1_Missense_Mutation_p.H2051Y|CACNA1B_ENST00000371357.1_Missense_Mutation_p.H2052Y|CACNA1B_ENST00000371355.4_Missense_Mutation_p.H2054Y|CACNA1B_ENST00000277551.2_Missense_Mutation_p.H2053Y|CACNA1B_ENST00000371372.1_Missense_Mutation_p.H2053Y Q00975 CAC1B_HUMAN calcium channel, voltage-dependent, N type, alpha 1B subunit 2053 membrane depolarization|synaptic transmission voltage-gated calcium channel complex ATP binding|protein C-terminus binding|voltage-gated calcium channel activity NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2) 80 all_cancers(76;0.166) OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476) Amlodipine(DB00381)|Gabapentin(DB00996) GCACCACCACCACCACCGCTG 0.716000 3 9 0 0 1 0 0 SLC5A1 6523 broad.mit.edu 37 22 32464000 32464000 + Missense_Mutation SNP A A G TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr22:32464000A>G ENST00000266088.4 + 4 609 c.359A>G c.(358-360)tAt>tGt p.Y120C SLC5A1_ENST00000543737.1_5'UTR NM_000343.3 NP_000334.1 P13866 SC5A1_HUMAN solute carrier family 5 (sodium/glucose cotransporter), member 1 120 carbohydrate metabolic process integral to plasma membrane glucose:sodium symporter activity|protein binding NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1) 37 GTCCCCATCTATATTAAGGCT 0.473000 27 144 0 0 1 0 0 ZNF282 8427 broad.mit.edu 37 7 148921398 148921398 + Missense_Mutation SNP T T A TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr7:148921398T>A ENST00000262085.3 + 8 1780 c.1675T>A c.(1675-1677)Tcg>Acg p.S559T ZNF282_ENST00000479907.1_3'UTR NM_003575.2 NP_003566.1 Q9UDV7 ZN282_HUMAN zinc finger protein 282 559 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|large_intestine(3)|lung(7)|prostate(2)|skin(1)|urinary_tract(1) 17 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00171) Lung(243;0.145) CAACTGCCACTCGGGCCTCAT 0.637000 19 68 0 0 1 0 0 CCNI 10983 broad.mit.edu 37 4 77969604 77969604 + Missense_Mutation SNP C C G TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr4:77969604C>G ENST00000237654.4 - 7 1478 c.902G>C c.(901-903)aGa>aCa p.R301T CCNI_ENST00000537948.1_Missense_Mutation_p.R287T NM_006835.2 NP_006826.1 Q14094 CCNI_HUMAN cyclin I 301 spermatogenesis NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)|prostate(1) 9 TGCTGTACCTCTGACTGGCAC 0.512000 19 72 0 0 1 0 0 WRAP53 55135 broad.mit.edu 37 17 7606072 7606072 + Silent SNP C C G TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr17:7606072C>G ENST00000316024.5 + 8 3524 c.1176C>G c.(1174-1176)ctC>ctG p.L392L WRAP53_ENST00000534050.1_Silent_p.L359L|WRAP53_ENST00000396463.2_Silent_p.L392L|WRAP53_ENST00000457584.2_Silent_p.L392L|WRAP53_ENST00000431639.2_Silent_p.L392L Q9BUR4 WAP53_HUMAN WD repeat containing, antisense to TP53 392 positive regulation of telomerase activity|telomere formation via telomerase Cajal body|cytoplasm|telomerase holoenzyme complex protein binding|RNA binding endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(2) 18 ATGCTGAGCTCCTGTGCTGGG 0.612000 11 60 0 0 1 0 0 TRPM5 29850 broad.mit.edu 37 11 2426187 2426187 + Missense_Mutation SNP G G T TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr11:2426187G>T ENST00000452833.1 - 24 3492 c.3484C>A c.(3484-3486)Cag>Aag p.Q1162K TRPM5_ENST00000528453.1_Missense_Mutation_p.Q1161K|TRPM5_ENST00000155858.6_Missense_Mutation_p.Q1160K|AC124057.5_ENST00000433035.1_RNA|TRPM5_ENST00000533060.1_Missense_Mutation_p.Q1168K Q9NZQ8 TRPM5_HUMAN transient receptor potential cation channel, subfamily M, member 5 1160 integral to membrane|plasma membrane receptor activity|voltage-gated ion channel activity breast(1)|central_nervous_system(1)|endometrium(4)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2) 23 Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311) BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191) GAGGGAGGCTGGCCAGCCCCG 0.647000 8 63 5.4927e-09 6.91978e-09 1 1 0 STAT1 6772 broad.mit.edu 37 2 191859800 191859800 + Nonsense_Mutation SNP G G A TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr2:191859800G>A ENST00000361099.3 - 10 1318 c.931C>T c.(931-933)Cag>Tag p.Q311* STAT1_ENST00000540176.1_3'UTR|STAT1_ENST00000409465.1_Nonsense_Mutation_p.Q311*|STAT1_ENST00000392322.3_Nonsense_Mutation_p.Q311*|STAT1_ENST00000392323.2_Nonsense_Mutation_p.Q313* NM_007315.3 NP_009330.1 P42224 STAT1_HUMAN signal transducer and activator of transcription 1, 91kDa 311 activation of caspase activity|I-kappaB kinase/NF-kappaB cascade|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway|tyrosine phosphorylation of STAT protein cytosol|nucleolus|nucleoplasm calcium ion binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity|signal transducer activity autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141) Fludarabine(DB01073) TGAATGAGCTGCTGGAAAAGA 0.388000 4 46 0 0 1 0 0 DCHS1 8642 broad.mit.edu 37 11 6644998 6644998 + Missense_Mutation SNP C C A TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr11:6644998C>A ENST00000299441.3 - 21 8320 c.7909G>T c.(7909-7911)Gtg>Ttg p.V2637L NM_003737.2 NP_003728.1 Q96JQ0 PCD16_HUMAN dachsous cadherin-related 1 2637 Cadherin 25. calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 103 Medulloblastoma(188;0.00263)|all_neural(188;0.026) Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GTGAAACGCACGAGGCCATGA 0.607000 17 92 8.60227e-14 1.17367e-13 1 1 0 KCNH7 90134 broad.mit.edu 37 2 163361034 163361034 + Silent SNP T T C TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr2:163361034T>C ENST00000332142.5 - 6 1146 c.1047A>G c.(1045-1047)tcA>tcG p.S349S KCNH7_ENST00000328032.4_Silent_p.S342S|KCNH7_ENST00000477019.1_5'UTR NM_033272.3 NP_150375.2 Q9NS40 KCNH7_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 7 349 regulation of transcription, DNA-dependent integral to membrane protein binding|signal transducer activity NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 108 Ibutilide(DB00308) AAGGAGGTGATGAATTCTTTT 0.383000 28 80 0 0 1 0 0 TMCO5A 145942 broad.mit.edu 37 15 38243401 38243401 + Missense_Mutation SNP T T G TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr15:38243401T>G ENST00000319669.4 + 11 935 c.833T>G c.(832-834)cTc>cGc p.L278R TMCO5A_ENST00000559502.1_Intron|TMCO5A_ENST00000540944.1_Intron NM_152453.2 NP_689666.2 Q8N6Q1 TMC5A_HUMAN transmembrane and coiled-coil domains 5A 278 integral to membrane central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2) 15 TTTCCATCTCTCACACTTGAG 0.478000 8 62 0 0 1 0 0 DST 667 broad.mit.edu 37 6 56483561 56483561 + Missense_Mutation SNP C C A TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr6:56483561C>A ENST00000370765.6 - 23 5378 c.5271G>T c.(5269-5271)aaG>aaT p.K1757N DST_ENST00000370788.2_Intron|DST_ENST00000446842.2_Intron|DST_ENST00000370754.5_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000312431.6_Intron|DST_ENST00000370769.4_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000361203.3_Intron NM_001723.5 NP_001714.1 Q03001 DYST_HUMAN dystonin 1149 cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 105 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) ATTTTTCCATCTTCTTCCGAA 0.393000 31 132 8.4185e-14 1.15093e-13 1 1 0 LRRTM3 347731 broad.mit.edu 37 10 68687790 68687790 + Silent SNP C C G TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr10:68687790C>G ENST00000361320.4 + 2 1694 c.1116C>G c.(1114-1116)gcC>gcG p.A372A CTNNA3_ENST00000433211.1_Intron|CTNNA3_ENST00000373744.4_Intron|CTNNA3_ENST00000494580.1_Intron NM_178011.3 NP_821079.3 Q86VH5 LRRT3_HUMAN leucine rich repeat transmembrane neuronal 3 372 integral to membrane breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3) 41 TTGATCTGGCCAGGGCTCTCC 0.567000 30 80 0 0 1 0 0 SLC8A1 6546 broad.mit.edu 37 2 40657121 40657121 + Missense_Mutation SNP C C A TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr2:40657121C>A ENST00000406785.1 - 2 489 c.300G>T c.(298-300)atG>atT p.M100I SLC8A1_ENST00000406391.2_Missense_Mutation_p.M100I|SLC8A1_ENST00000408028.2_Missense_Mutation_p.M100I|SLC8A1_ENST00000332839.4_Missense_Mutation_p.M100I|SLC8A1_ENST00000405901.3_Missense_Mutation_p.M100I|SLC8A1_ENST00000405269.1_Missense_Mutation_p.M100I|SLC8A1_ENST00000403092.1_Missense_Mutation_p.M100I|SLC8A1_ENST00000402441.1_Missense_Mutation_p.M100I|SLC8A1_ENST00000542756.1_Missense_Mutation_p.M100I|SLC8A1_ENST00000542024.1_Missense_Mutation_p.M100I P32418 NAC1_HUMAN solute carrier family 8 (sodium/calcium exchanger), member 1 100 cell communication|muscle contraction|platelet activation integral to plasma membrane calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2) 100 Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159) CTATAGAGGACATGAACCGAT 0.408000 8 84 0.00307968 0.00322314 1 1 0 ACE 1636 broad.mit.edu 37 17 61561749 61561749 + Missense_Mutation SNP G G T TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr17:61561749G>T ENST00000290866.4 + 12 1792 c.1768G>T c.(1768-1770)Ggc>Tgc p.G590C ACE_ENST00000428043.1_Missense_Mutation_p.G590C NM_000789.3 NP_000780.1 P12821 ACE_HUMAN angiotensin I converting enzyme 590 Peptidase M2 1. arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 51 Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519) GGACATGGTCGGCTTAGATGC 0.647000 3 19 6.4e-05 7.15357e-05 1 1 0 NPL 80896 broad.mit.edu 37 1 182787753 182787753 + Missense_Mutation SNP C C T TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr1:182787753C>T ENST00000367554.3 + 7 796 c.478C>T c.(478-480)Ctc>Ttc p.L160F NPL_ENST00000367553.1_Missense_Mutation_p.L179F|NPL_ENST00000258317.2_Missense_Mutation_p.L179F|NPL_ENST00000367555.1_Missense_Mutation_p.L179F|NPL_ENST00000367552.2_Missense_Mutation_p.L179F|NPL_ENST00000463899.1_3'UTR NM_001200050.1 NP_001186979.1 Q9BXD5 NPL_HUMAN N-acetylneuraminate pyruvate lyase (dihydrodipicolinate synthase) 179 carbohydrate metabolic process cytoplasm N-acetylneuraminate lyase activity breast(1)|central_nervous_system(1)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|skin(1)|stomach(1) 15 TGATACAGATCTCTTAGACTT 0.473000 8 59 0 0 1 0 0 IGSF1 3547 broad.mit.edu 37 X 130419878 130419878 + Missense_Mutation SNP C C A TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chrX:130419878C>A ENST00000370904.1 - 10 1125 c.215G>T c.(214-216)cGc>cTc p.R72L IGSF1_ENST00000370910.1_Missense_Mutation_p.R72L|IGSF1_ENST00000370901.4_Missense_Mutation_p.R81L|IGSF1_ENST00000361420.3_Missense_Mutation_p.R81L|IGSF1_ENST00000370903.3_Missense_Mutation_p.R81L|IGSF1_ENST00000370900.1_Missense_Mutation_p.R81L Q8N6C5 IGSF1_HUMAN immunoglobulin superfamily, member 1 81 Ig-like C2-type 1. regulation of transcription, DNA-dependent extracellular region|integral to membrane inhibin beta-A binding|inhibin beta-B binding breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2) 78 GTGGGAAGGGCGGATCCAGGT 0.537000 13 152 9.05144e-12 1.20805e-11 1 1 0 PEX1 5189 broad.mit.edu 37 7 92131279 92131279 + Missense_Mutation SNP C C A TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr7:92131279C>A ENST00000248633.4 - 14 2436 c.2341G>T c.(2341-2343)Gct>Tct p.A781S PEX1_ENST00000541751.1_Intron|PEX1_ENST00000438045.1_Missense_Mutation_p.A459S|PEX1_ENST00000428214.1_Missense_Mutation_p.A724S NM_000466.2 NP_000457.1 O43933 PEX1_HUMAN peroxisomal biogenesis factor 1 781 microtubule-based peroxisome localization|protein import into peroxisome matrix cytosol|nucleus|peroxisomal membrane ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592) Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123) GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23) AAATCTCTAGCCACAAACCCG 0.373000 36 232 2.26627e-22 3.24993e-22 1 1 0 HCN1 348980 broad.mit.edu 37 5 45267222 45267222 + Missense_Mutation SNP C C A TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr5:45267222C>A ENST00000303230.4 - 7 1809 c.1752G>T c.(1750-1752)gaG>gaT p.E584D NM_021072.3 NP_066550.2 O60741 HCN1_HUMAN hyperpolarization activated cyclic nucleotide-gated potassium channel 1 584 integral to membrane cAMP binding|sodium channel activity|voltage-gated potassium channel activity NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5) 156 TGGCAACTGTCTCAAAGGCTC 0.393000 21 100 1.55795e-14 2.14297e-14 1 1 0 OR4K1 79544 broad.mit.edu 37 14 20404563 20404563 + Silent SNP G G T TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr14:20404563G>T ENST00000285600.4 + 1 797 c.738G>T c.(736-738)gtG>gtT p.V246V NM_001004063.2 NP_001004063.2 Q8NGD4 OR4K1_HUMAN olfactory receptor, family 4, subfamily K, member 1 246 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) ACATCACAGTGGTCATTCTTT 0.413000 11 52 2.27111e-07 2.74817e-07 1 1 0 TCN1 6947 broad.mit.edu 37 11 59622189 59622189 + Missense_Mutation SNP G G T TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr11:59622189G>T ENST00000257264.3 - 7 1161 c.1057C>A c.(1057-1059)Cta>Ata p.L353I TCN1_ENST00000532419.1_5'UTR NM_001062.3 NP_001053.2 P20061 TCO1_HUMAN transcobalamin I (vitamin B12 binding protein, R binder family) 353 cobalamin metabolic process|cobalamin transport|cobalt ion transport extracellular region cobalamin binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 29 all_epithelial(135;0.198) Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) GAACCATTTAGCACAGTGACA 0.393000 29 85 3.80469e-20 5.37603e-20 1 1 0 TBX5 6910 broad.mit.edu 37 12 114804106 114804106 + Silent SNP G G T TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr12:114804106G>T ENST00000310346.4 - 8 1512 c.846C>A c.(844-846)tcC>tcA p.S282S TBX5_ENST00000349716.5_Silent_p.S232S|TBX5_ENST00000526441.1_Silent_p.S282S|TBX5_ENST00000405440.2_Silent_p.S282S NM_000192.3 NP_000183.2 Q99593 TBX5_HUMAN T-box 5 282 cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development cytoplasm|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 Medulloblastoma(191;0.163)|all_neural(191;0.178) BRCA - Breast invasive adenocarcinoma(302;0.0893) TGGATGAGGTGGAGAGAGCTC 0.572000 7 94 0.00198382 0.00208921 1 1 0 DHRSX 207063 broad.mit.edu 37 X 2139106 2139106 + Silent SNP A A T rs144973925 byFrequency TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chrX:2139106A>T ENST00000334651.5 - 7 1021 c.969T>A c.(967-969)acT>acA p.T323T NM_145177.2 NP_660160.2 Q8N5I4 DHRSX_HUMAN dehydrogenase/reductase (SDR family) X-linked 323 binding|oxidoreductase activity endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1) 16 all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186) CAAGGACCCCAGTCATCTCAC 0.512000 9 70 0 0 1 0 0 NOX3 50508 broad.mit.edu 37 6 155761101 155761101 + Missense_Mutation SNP G G C TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr6:155761101G>C ENST00000159060.2 - 6 759 c.657C>G c.(655-657)atC>atG p.I219M NM_015718.2 NP_056533.1 Q9HBY0 NOX3_HUMAN NADPH oxidase 3 219 Ferric oxidoreductase. electron carrier activity|flavin adenine dinucleotide binding|iron ion binding cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1) 45 Breast(66;0.0183) OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815) CCGTCCCATGGATGGCCAGGC 0.478000 7 34 0 0 1 0 0 SSTR2 6752 broad.mit.edu 37 17 71165865 71165865 + Missense_Mutation SNP T T A TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr17:71165865T>A ENST00000357585.2 + 2 776 c.407T>A c.(406-408)aTg>aAg p.M136K RP11-143K11.5_ENST00000580671.1_RNA|SSTR2_ENST00000315332.2_Missense_Mutation_p.M136K NM_001050.2 NP_001041.1 P30874 SSR2_HUMAN somatostatin receptor 2 136 digestion|negative regulation of cell proliferation|response to nutrient integral to plasma membrane PDZ domain binding|somatostatin receptor activity endometrium(2)|large_intestine(5)|lung(2)|prostate(2) 11 LUSC - Lung squamous cell carcinoma(166;0.197) CTGACAGTCATGAGCATCGAC 0.587000 7 67 0 0 1 0 0 RGS22 26166 broad.mit.edu 37 8 101065067 101065067 + Missense_Mutation SNP C C G rs2926769 TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr8:101065067C>G ENST00000360863.6 - 10 1846 c.1652G>C c.(1651-1653)aGa>aCa p.R551T RGS22_ENST00000523437.1_Missense_Mutation_p.R539T|RGS22_ENST00000523287.1_Missense_Mutation_p.R370T NM_015668.3 NP_056483.3 Q8NE09 RGS22_HUMAN regulator of G-protein signaling 22 551 negative regulation of signal transduction cytoplasm|plasma membrane GTPase activator activity|signal transducer activity RGS22/SYCP1(2) breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 68 Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169) AGATTTGGGTCTTAATGGCAA 0.418000 25 82 0 0 1 0 0 YME1L1 10730 broad.mit.edu 37 10 27436479 27436479 + Missense_Mutation SNP T T A TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr10:27436479T>A ENST00000326799.3 - 3 435 c.287A>T c.(286-288)gAc>gTc p.D96V YME1L1_ENST00000376016.3_Intron|YME1L1_ENST00000375972.3_Intron|YME1L1_ENST00000477432.1_Missense_Mutation_p.D96V NM_139312.2 NP_647473.1 Q96TA2 YMEL1_HUMAN YME1-like 1 ATPase 96 protein catabolic process|proteolysis membrane|mitochondrion ATP binding|metal ion binding|metalloendopeptidase activity|nucleoside-triphosphatase activity breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 23 atcggttgtgtccaagctctt 0.438000 4 10 0 0 1 0 0 DST 667 broad.mit.edu 37 6 56438527 56438527 + Missense_Mutation SNP G G C TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr6:56438527G>C ENST00000370754.5 - 51 13092 c.13093C>G c.(13093-13095)Caa>Gaa p.Q4365E DST_ENST00000370788.2_Missense_Mutation_p.Q2099E|DST_ENST00000446842.2_Missense_Mutation_p.Q3861E|DST_ENST00000421834.2_Missense_Mutation_p.Q2099E|DST_ENST00000312431.6_Intron|DST_ENST00000370769.4_Missense_Mutation_p.Q4187E|DST_ENST00000244364.6_Missense_Mutation_p.Q1773E|DST_ENST00000361203.3_Missense_Mutation_p.Q4185E Q03001 DYST_HUMAN dystonin 4185 cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 105 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) AAAGGCACTTGACCTTGTTCT 0.378000 8 87 0 0 1 0 0 GLRA2 2742 broad.mit.edu 37 X 14599505 14599505 + Silent SNP T T C TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chrX:14599505T>C ENST00000218075.4 + 4 1001 c.471T>C c.(469-471)aaT>aaC p.N157N GLRA2_ENST00000355020.4_Silent_p.N157N|GLRA2_ENST00000443437.2_Silent_p.N68N NM_002063.3 NP_002054.1 P23416 GLRA2_HUMAN glycine receptor, alpha 2 157 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 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) TTTCGAAAAATGGCAAAGTGC 0.458000 17 58 0 0 1 0 0 SMARCAD1 56916 broad.mit.edu 37 4 95155122 95155122 + Missense_Mutation SNP A A T TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr4:95155122A>T ENST00000354268.4 + 4 459 c.386A>T c.(385-387)gAt>gTt p.D129V SMARCAD1_ENST00000457823.2_Missense_Mutation_p.D129V Q9H4L7 SMRCD_HUMAN SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1 129 chromatin modification|nucleotide metabolic process|positive regulation of transcription, DNA-dependent|protein homooligomerization|regulation of DNA recombination nuclear matrix ATP binding|DNA binding|helicase activity breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|liver(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 44 OV - Ovarian serous cystadenocarcinoma(123;4.33e-08) CCATCTGAAGATGAAGAGTCC 0.338000 7 35 0 0 1 0 0 NLGN1 22871 broad.mit.edu 37 3 173525560 173525560 + Missense_Mutation SNP G G C TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr3:173525560G>C ENST00000457714.1 + 4 1013 c.584G>C c.(583-585)aGt>aCt p.S195T NLGN1_ENST00000545397.1_Missense_Mutation_p.S195T|NLGN1_ENST00000401917.3_Missense_Mutation_p.S235T|NLGN1_ENST00000361589.4_Missense_Mutation_p.S195T NM_014932.2 NP_055747.1 Q8N2Q7 NLGN1_HUMAN neuroligin 1 212 calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane cell adhesion molecule binding|neurexin binding|receptor activity p.S195N(1) breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 83 Ovarian(172;0.0025) LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13) TATGATGGAAGTGTCTTGGCA 0.428000 12 75 0 0 1 0 0 KRT2 3849 broad.mit.edu 37 12 53044165 53044165 + Missense_Mutation SNP T T A TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr12:53044165T>A ENST00000309680.3 - 2 779 c.758A>T c.(757-759)gAg>gTg p.E253V NM_000423.2 NP_000414.2 P35908 K22E_HUMAN keratin 2 253 Coil 1B.|Rod. keratinization|keratinocyte activation|keratinocyte migration|keratinocyte proliferation Golgi apparatus|keratin filament protein binding|structural constituent of cytoskeleton endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(18)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 32 BRCA - Breast invasive adenocarcinoma(357;0.19) GTTATTCAGCTCTGAATTCTG 0.473000 21 141 0 0 1 0 0 ANKRD30A 91074 broad.mit.edu 37 10 37482124 37482124 + Missense_Mutation SNP G G C TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr10:37482124G>C ENST00000374660.1 + 33 2840 c.2741G>C c.(2740-2742)aGa>aCa p.R914T ANKRD30A_ENST00000602533.1_Missense_Mutation_p.R795T|ANKRD30A_ENST00000475522.1_3'UTR|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.R795T Q9BXX3 AN30A_HUMAN ankyrin repeat domain 30A 967 nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3) 158 GCTCCCTGCAGAATGAAAGTT 0.269000 8 47 0 0 1 0 0 SMC4 10051 broad.mit.edu 37 3 160148451 160148451 + Missense_Mutation SNP G G A TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr3:160148451G>A ENST00000357388.3 + 19 3311 c.2860G>A c.(2860-2862)Gag>Aag p.E954K SMC4_ENST00000462787.1_Missense_Mutation_p.E954K|SMC4_ENST00000469762.1_Missense_Mutation_p.E929K|SMC4_ENST00000360111.2_Missense_Mutation_p.E954K|RP11-432B6.3_ENST00000483754.1_Intron|SMC4_ENST00000344722.5_Missense_Mutation_p.E954K NM_001002800.1 NP_001002800.1 Q9NTJ3 SMC4_HUMAN structural maintenance of chromosomes 4 954 cell division|mitotic chromosome condensation condensin complex|cytoplasm|nucleus ATP binding|protein heterodimerization activity breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(15)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523) TACTGAGAAAGAGGTGGATGA 0.393000 6 45 0 0 1 0 0 PKNOX2 63876 broad.mit.edu 37 11 125280103 125280103 + Silent SNP G G A TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr11:125280103G>A ENST00000298282.9 + 8 871 c.600G>A c.(598-600)caG>caA p.Q200Q PKNOX2_ENST00000542175.1_Silent_p.Q136Q|PKNOX2_ENST00000530517.1_3'UTR NM_022062.2 NP_071345.2 Q96KN3 PKNX2_HUMAN PBX/knotted 1 homeobox 2 200 nucleus sequence-specific DNA binding transcription factor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(14)|ovary(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 29 Breast(109;0.00234)|all_lung(97;0.0191)|Lung NSC(97;0.0196)|Medulloblastoma(222;0.0447)|all_neural(223;0.116) BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.117) ACCTCCTGCAGAATTCCCCCA 0.582000 39 169 0 0 1 0 0 FOXF1 2294 broad.mit.edu 37 16 86546626 86546626 + Missense_Mutation SNP G G T TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr16:86546626G>T ENST00000262426.4 + 2 1118 c.1075G>T c.(1075-1077)Gcc>Tcc p.A359S NM_001451.2 NP_001442.2 Q12946 FOXF1_HUMAN forkhead box F1 359 branching involved in open tracheal system development|cardiac left ventricle morphogenesis|embryonic ectodermal digestive tract morphogenesis|endocardial cushion development|in utero embryonic development|lung vasculature development|midgut development|pancreas development|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|ureter development|venous blood vessel 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 factor binding autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(1) 12 CATGCACTCGGCCGGCGGGGG 0.622000 9 66 0.000978159 0.00104482 1 1 0 KCNK2 3776 broad.mit.edu 37 1 215259724 215259724 + Missense_Mutation SNP C C A TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr1:215259724C>A ENST00000444842.2 + 2 210 c.60C>A c.(58-60)gaC>gaA p.D20E KCNK2_ENST00000391895.2_Missense_Mutation_p.D16E|KCNK2_ENST00000391894.2_Missense_Mutation_p.D5E NM_001017425.2|NM_014217.3 NP_001017425.2|NP_055032.1 O95069 KCNK2_HUMAN potassium channel, subfamily K, member 2 20 outward rectifier potassium channel activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|upper_aerodigestive_tract(1) 30 OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068) Dofetilide(DB00204) CGGCACCTGACTTGCTGGATC 0.532000 11 38 2.27111e-07 2.74817e-07 1 1 0 DSC3 1825 broad.mit.edu 37 18 28612170 28612170 + Missense_Mutation SNP T T C TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr18:28612170T>C ENST00000434452.1 - 2 296 c.142A>G c.(142-144)Ata>Gta p.I48V DSC3_ENST00000360428.4_Missense_Mutation_p.I48V NM_024423.2 NP_077741.2 Q14574 DSC3_HUMAN desmocollin 3 48 homophilic cell adhesion|protein stabilization desmosome|integral to membrane|membrane fraction calcium ion binding|gamma-catenin binding endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 56 OV - Ovarian serous cystadenocarcinoma(10;0.125) CTGCCAATTATTTTGTCTGCC 0.343000 10 33 0 0 1 0 0 TMEM229B 161145 broad.mit.edu 37 14 67940296 67940296 + Silent SNP G G A TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr14:67940296G>A ENST00000357461.2 - 3 754 c.345C>T c.(343-345)ctC>ctT p.L115L TMEM229B_ENST00000557006.1_Silent_p.L115L NM_182526.2 NP_872332.1 Q8NBD8 T229B_HUMAN transmembrane protein 229B 115 integral to membrane central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2) 5 CCAGGGTGATGAGGCCCATGA 0.612000 4 15 0 0 1 0 0 GPR115 221393 broad.mit.edu 37 6 47682020 47682020 + Missense_Mutation SNP G G T TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr6:47682020G>T ENST00000283303.2 + 6 1297 c.1039G>T c.(1039-1041)Gcc>Tcc p.A347S GPR115_ENST00000327753.3_Missense_Mutation_p.A347S|GPR115_ENST00000371220.1_Missense_Mutation_p.A404S NM_153838.3 NP_722580.3 Q8IZF3 GP115_HUMAN G protein-coupled receptor 115 347 GPS. 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 CAATGCCAGAGCCCAGTGTGT 0.453000 17 47 1.5739e-10 2.05982e-10 1 1 0 NF1 4763 broad.mit.edu 37 17 29562635 29562635 + Silent SNP C C T TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr17:29562635C>T ENST00000358273.4 + 28 4098 c.3715C>T c.(3715-3717)Cta>Tta p.L1239L NF1_ENST00000356175.3_Silent_p.L1239L NM_001042492.2 NP_001035957.1 P21359 NF1_HUMAN neurofibromin 1 1239 Ras-GAP. actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus protein binding|Ras GTPase activator activity p.0?(8)|p.?(4) NF1/ACCN1(2) autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9) 599 all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659) UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146) TCAGGATGAACTAGCTCGAGT 0.383000 """D, Mis, N, F, S, O""" """neurofibroma, glioma""" """neurofibroma, glioma""" Neurofibromatosis, type 1 TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088) 19 146 0 0 1 0 0 ZNF521 25925 broad.mit.edu 37 18 22805674 22805674 + Silent SNP G G T TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr18:22805674G>T ENST00000361524.3 - 4 2356 c.2208C>A c.(2206-2208)tcC>tcA p.S736S ZNF521_ENST00000538137.2_Silent_p.S736S|ZNF521_ENST00000584787.1_Silent_p.S516S NM_015461.2 NP_056276.1 Q96K83 ZN521_HUMAN zinc finger protein 521 736 cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein domain specific binding|zinc ion binding NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 149 all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991) GGAGCTGAATGGAGACTTTTG 0.483000 T PAX5 ALL 5 50 0.184627 0.185177 1 1 0 ANK1 286 broad.mit.edu 37 8 41556969 41556969 + Splice_Site SNP C C A TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr8:41556969C>A ENST00000396942.1 - 23 2642 c.e23+1 ANK1_ENST00000347528.4_Splice_Site|ANK1_ENST00000379758.2_Splice_Site|ANK1_ENST00000396945.1_Splice_Site|ANK1_ENST00000352337.4_Splice_Site|ANK1_ENST00000265709.8_Splice_Site|ANK1_ENST00000289734.7_Splice_Site P16157 ANK1_HUMAN ankyrin 1, erythrocytic axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 122 Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211) all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188) OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264) GCACTGCTCACACTTGGTCTA 0.602000 28 72 2.61193e-14 3.58542e-14 1 1 0 LILRA4 23547 broad.mit.edu 37 19 54849400 54849400 + Silent SNP C C T TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr19:54849400C>T ENST00000291759.4 - 4 518 c.462G>A c.(460-462)ctG>ctA p.L154L NM_012276.3 NP_036408.3 P59901 LIRA4_HUMAN leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4 154 Ig-like C2-type 2. integral to membrane receptor activity NS(2)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(3) 32 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.0565) CTTCCTCAATCAGAGTGAACC 0.612000 8 37 0 0 1 0 0 IGHV1OR21-1 390530 broad.mit.edu 37 21 10863034 10863034 + RNA SNP G G T TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr21:10863034G>T ENST00000559480.1 + 0 330 breast(1)|endometrium(1)|kidney(3)|lung(20)|urinary_tract(1) 26 CTGAGGACACGGCCATGTATT 0.502000 39 352 2.66277e-13 3.5966e-13 1 1 0 MPO 4353 broad.mit.edu 37 17 56355208 56355208 + Missense_Mutation SNP C C T TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr17:56355208C>T ENST00000340482.3 - 6 1456 c.1280G>A c.(1279-1281)cGc>cAc p.R427H MPO_ENST00000225275.3_Missense_Mutation_p.R395H|MPO_ENST00000578493.1_5'UTR P05164 PERM_HUMAN myeloperoxidase 395 anti-apoptosis|hydrogen peroxide catabolic process|low-density lipoprotein particle remodeling extracellular space|lysosome|nucleus|stored secretory granule chromatin binding|heme binding|heparin binding|peroxidase activity breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4) 46 Cefdinir(DB00535) GCAGGGGATGCGCGCTGAGCG 0.617000 14 82 0 0 1 0 0 OTUD7B 56957 broad.mit.edu 37 1 149915757 149915757 + Nonstop_Mutation SNP C C A TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr1:149915757C>A ENST00000369135.3 - 12 2825 c.2531G>T c.(2530-2532)tGa>tTa p.*844L NM_020205.2 NP_064590.2 Q6GQQ9 OTU7B_HUMAN OTU domain containing 7B 0 negative regulation of I-kappaB kinase/NF-kappaB cascade cytoplasm|microtubule cytoskeleton|nucleus cysteine-type peptidase activity|DNA binding|protein binding|zinc ion binding breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247) TCCACCCGTTCAGAACCTGTG 0.517000 12 77 1.05317e-09 1.35984e-09 1 1 0 SLC30A10 55532 broad.mit.edu 37 1 220088800 220088800 + Silent SNP C C G rs148203711 TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr1:220088800C>G ENST00000366926.3 - 4 1610 c.1449G>C c.(1447-1449)acG>acC p.T483T SLC30A10_ENST00000536446.1_Silent_p.T238T|SLC30A10_ENST00000484079.1_5'UTR NM_018713.2 NP_061183.2 Q6XR72 ZNT10_HUMAN solute carrier family 30, member 10 483 zinc ion transport integral to membrane|plasma membrane cation transmembrane transporter activity NS(1)|endometrium(1)|large_intestine(1)|lung(9)|skin(1) 13 GBM - Glioblastoma multiforme(131;0.051)|all cancers(67;0.209) ATTAAAAATGCGTTCTGTTGA 0.438000 17 139 0 0 1 0 0 PCDHA12 56137 broad.mit.edu 37 5 140256382 140256382 + Missense_Mutation SNP C C A TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr5:140256382C>A ENST00000398631.2 + 1 1325 c.1325C>A c.(1324-1326)tCc>tAc p.S442Y PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529859.1_Intron NM_018903.2|NM_031864.1 NP_061726.1|NP_114070.1 NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1) 78 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCTAGAGTGTCCGTGGAGGTG 0.662000 58 157 6.83704e-37 9.97438e-37 1 1 0 TTN 7273 broad.mit.edu 37 2 179474535 179474535 + Silent SNP C C T TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr2:179474535C>T ENST00000589042.1 - 272 51839 c.51615G>A c.(51613-51615)ctG>ctA p.L17205L TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Silent_p.L8140L|TTN_ENST00000359218.5_Silent_p.L8265L|TTN_ENST00000342992.6_Silent_p.L14637L|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342175.6_Silent_p.L8332L|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000591111.1_Silent_p.L15564L|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 15564 Fibronectin type-III 24. 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) CTGTATAGGTCAGGATTGGTA 0.483000 38 398 0 0 1 0 0 LOH12CR1 118426 broad.mit.edu 37 12 12514235 12514235 + Missense_Mutation SNP G G T TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr12:12514235G>T ENST00000314565.4 + 2 485 c.154G>T c.(154-156)Gat>Tat p.D52Y LOH12CR1_ENST00000298571.6_Intron|LOH12CR1_ENST00000542728.1_Missense_Mutation_p.D33Y NM_058169.3 NP_477517.1 Q969J3 L12R1_HUMAN loss of heterozygosity, 12, chromosomal region 1 52 kidney(1)|large_intestine(1)|lung(1)|ovary(1) 4 Prostate(47;0.0802) BRCA - Breast invasive adenocarcinoma(232;0.0205) CAACGATCCCGATGTCATCAA 0.483000 34 113 4.34311e-12 5.83118e-12 1 1 0 OR5L2 26338 broad.mit.edu 37 11 55595304 55595304 + Missense_Mutation SNP A A T TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr11:55595304A>T ENST00000378397.1 + 1 610 c.610A>T c.(610-612)Act>Tct p.T204S NM_001004739.1 NP_001004739.1 Q8NGL0 OR5L2_HUMAN olfactory receptor, family 5, subfamily L, member 2 204 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) CCTGGTGGCCACTTTGAATGA 0.463000 HNSCC(27;0.073) 29 176 0 0 1 0 0 CXCR6 10663 broad.mit.edu 37 3 45988828 45988828 + Silent SNP T T A TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr3:45988828T>A ENST00000458629.1 + 1 2318 c.855T>A c.(853-855)ccT>ccA p.P285P CXCR6_ENST00000457814.1_Silent_p.P285P|FYCO1_ENST00000535325.1_Intron|CXCR6_ENST00000304552.4_Silent_p.P285P|FYCO1_ENST00000296137.2_Intron|CXCR6_ENST00000438735.1_Silent_p.P285P|FYCO1_ENST00000438446.1_Intron O00574 CXCR6_HUMAN chemokine (C-X-C motif) receptor 6 285 viral genome replication integral to plasma membrane coreceptor activity central_nervous_system(1)|endometrium(1)|kidney(3)|lung(1)|prostate(1)|skin(1) 8 BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203) GCCTTAACCCTGTGCTCTATG 0.502000 20 39 0 0 1 0 0 TET1 80312 broad.mit.edu 37 10 70451060 70451060 + Missense_Mutation SNP A A G TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr10:70451060A>G ENST00000373644.4 + 12 6109 c.5900A>G c.(5899-5901)gAt>gGt p.D1967G NM_030625.2 NP_085128.2 Q8NFU7 TET1_HUMAN tet methylcytosine dioxygenase 1 1967 DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2) 21 TCTGAAGCAGATGAGCCTCCA 0.522000 52 131 0 0 1 0 0 LRRC4C 57689 broad.mit.edu 37 11 40136987 40136987 + Missense_Mutation SNP G G T TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr11:40136987G>T ENST00000278198.2 - 2 2819 c.856C>A c.(856-858)Ctc>Atc p.L286I LRRC4C_ENST00000528697.1_Missense_Mutation_p.L286I|LRRC4C_ENST00000527150.1_Missense_Mutation_p.L286I|LRRC4C_ENST00000530763.1_Missense_Mutation_p.L286I Q9HCJ2 LRC4C_HUMAN leucine rich repeat containing 4C 286 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) GGAGTGAAGAGGTCATGAGGC 0.443000 21 136 1.36565e-18 1.91759e-18 1 1 0 OR2B11 127623 broad.mit.edu 37 1 247615009 247615009 + Silent SNP G G T TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr1:247615009G>T ENST00000318749.6 - 1 299 c.276C>A c.(274-276)tcC>tcA p.S92S NM_001004492.1 NP_001004492.1 Q5JQS5 OR2BB_HUMAN olfactory receptor, family 2, subfamily B, member 11 92 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(13)|large_intestine(7)|lung(31)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 60 all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.241) OV - Ovarian serous cystadenocarcinoma(106;0.0188) TGGTCTTCTGGGAACTGCCCA 0.582000 16 88 5.01169e-05 5.6298e-05 1 1 0 PILRB 29990 broad.mit.edu 37 7 99957041 99957041 + Nonsense_Mutation SNP C C G TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr7:99957041C>G ENST00000310771.4 + 17 3032 c.536C>G c.(535-537)tCa>tGa p.S179* PILRB_ENST00000452089.1_Nonsense_Mutation_p.S179*|PILRB_ENST00000444073.1_Nonsense_Mutation_p.S179*|PILRB_ENST00000448382.1_Silent_p.L231L|PILRB_ENST00000444874.1_Silent_p.L109L Q9UKJ0 PILRB_HUMAN paired immunoglobin-like type 2 receptor beta 179 activation of transmembrane receptor protein tyrosine kinase activity integral to plasma membrane protein binding|receptor activity endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1) 13 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) AAAGGGCACTCAGAATCATGG 0.557000 20 107 0 0 1 0 0 OR5T3 390154 broad.mit.edu 37 11 56019904 56019904 + Missense_Mutation SNP G G T TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr11:56019904G>T ENST00000303059.3 + 1 229 c.229G>T c.(229-231)Gtg>Ttg p.V77L NM_001004747.1 NP_001004747.1 Q8NGG3 OR5T3_HUMAN olfactory receptor, family 5, subfamily T, member 3 77 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3) 39 Esophageal squamous(21;0.00448) AGGGCTGGTTGTGTTGGTCAT 0.378000 18 46 8.28177e-16 1.15091e-15 1 1 0 ITIH5 80760 broad.mit.edu 37 10 7679321 7679321 + Silent SNP G G A TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr10:7679321G>A ENST00000256861.6 - 5 600 c.522C>T c.(520-522)atC>atT p.I174I ITIH5_ENST00000397146.2_Silent_p.I174I|ITIH5_ENST00000397145.2_Silent_p.I174I|ITIH5_ENST00000434980.1_5'UTR|ITIH5_ENST00000446830.2_5'UTR NM_030569.6 NP_085046.5 Q86UX2 ITIH5_HUMAN inter-alpha-trypsin inhibitor heavy chain family, member 5 174 hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3) 75 GCCGCACGCTGATGCTGTGCT 0.602000 13 91 0 0 1 0 0 LTBP3 4054 broad.mit.edu 37 11 65321285 65321285 + Missense_Mutation SNP C C T TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr11:65321285C>T ENST00000301873.5 - 3 1019 c.751G>A c.(751-753)Gag>Aag p.E251K LTBP3_ENST00000322147.4_Missense_Mutation_p.E251K|LTBP3_ENST00000536982.1_Intron NM_001130144.2 NP_001123616.1 Q9NS15 LTBP3_HUMAN latent transforming growth factor beta binding protein 3 251 extracellular region calcium ion binding|growth factor binding breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(3) 23 GCTGCGCTCTCGGCGTTCGAG 0.726000 8 8 0 0 1 0 0 FBXL7 23194 broad.mit.edu 37 5 15937148 15937148 + Silent SNP C C A TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr5:15937148C>A ENST00000504595.1 + 4 1810 c.1329C>A c.(1327-1329)ggC>ggA p.G443G FBXL7_ENST00000510662.1_Silent_p.G396G|FBXL7_ENST00000329673.7_Silent_p.G431G NM_001278317.1|NM_012304.3 NP_001265246.1|NP_036436.1 Q9UJT9 FBXL7_HUMAN F-box and leucine-rich repeat protein 7 443 ubiquitin-dependent protein catabolic process ubiquitin ligase complex protein binding|ubiquitin-protein ligase activity cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 60 GCATCACCGGCCAGGGCTTGC 0.617000 7 26 7.48243e-07 8.84764e-07 1 1 0 PAX1 5075 broad.mit.edu 37 20 21687581 21687581 + Silent SNP C C G rs140128849 TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr20:21687581C>G ENST00000398485.2 + 2 846 c.792C>G c.(790-792)ggC>ggG p.G264G PAX1_ENST00000444366.2_Silent_p.G240G|PAX1_ENST00000460221.1_3'UTR NM_001257096.1|NM_006192.4 NP_001244025.1|NP_006183.2 P15863 PAX1_HUMAN paired box 1 264 regulation of transcription, DNA-dependent|skeletal system development|transcription from RNA polymerase II promoter nucleus DNA binding autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(21)|prostate(3)|skin(1)|upper_aerodigestive_tract(3) 38 CGCCCACGGGCGCCAAGATGG 0.692000 7 52 0 0 1 0 0 CCR6 1235 broad.mit.edu 37 6 167549989 167549989 + Missense_Mutation SNP G G C TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr6:167549989G>C ENST00000341935.5 + 3 823 c.271G>C c.(271-273)Gca>Cca p.A91P CCR6_ENST00000400926.2_Missense_Mutation_p.A91P|CCR6_ENST00000349984.4_Missense_Mutation_p.A91P NM_031409.3 NP_113597.2 P51684 CCR6_HUMAN chemokine (C-C motif) receptor 6 91 cellular defense response|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|humoral immune response integral to plasma membrane C-C chemokine receptor activity endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1) 14 Breast(66;1.53e-05)|Ovarian(120;0.0606) OV - Ovarian serous cystadenocarcinoma(33;8.21e-20)|BRCA - Breast invasive adenocarcinoma(81;4.55e-06)|GBM - Glioblastoma multiforme(31;0.00507) CATGGCCATTGCAGACATCCT 0.483000 37 82 0 0 1 0 0 LYZL2 119180 broad.mit.edu 37 10 30915075 30915075 + Missense_Mutation SNP C C A TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr10:30915075C>A ENST00000375318.2 - 3 451 c.395G>T c.(394-396)gGa>gTa p.G132V NM_183058.2 NP_898881.2 Q7Z4W2 LYZL2_HUMAN lysozyme-like 2 86 cell wall macromolecule catabolic process extracellular region lysozyme activity NS(2)|central_nervous_system(1)|large_intestine(1)|lung(14)|prostate(1) 19 Prostate(175;0.151) CTTCAGCTTTCCGCGTCTGCA 0.572000 19 112 2.94398e-08 3.64751e-08 1 1 0 FAM135B 51059 broad.mit.edu 37 8 139163771 139163771 + Missense_Mutation SNP C C A TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr8:139163771C>A ENST00000395297.1 - 13 3117 c.2947G>T c.(2947-2949)Ggc>Tgc p.G983C NM_015912.3 NP_056996.2 Q49AJ0 F135B_HUMAN family with sequence similarity 135, member B 983 NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 238 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) CACACAGTGCCTGCTTTATGT 0.502000 HNSCC(54;0.14) 7 84 0.000157383 0.000173045 1 1 0 IGHG4 3503 broad.mit.edu 37 14 106090876 106090876 + RNA SNP C C T TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr14:106090876C>T ENST00000390543.2 - 0 920 CCTCATGCATCACGGAGCATG 0.622000 19 254 0 0 1 0 0 CHRNG 1146 broad.mit.edu 37 2 233405354 233405354 + Missense_Mutation SNP G G C TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr2:233405354G>C ENST00000389494.3 + 4 304 c.283G>C c.(283-285)Gaa>Caa p.E95Q CHRNG_ENST00000389492.3_Missense_Mutation_p.E95Q NM_005199.4 NP_005190.4 P07510 ACHG_HUMAN cholinergic receptor, nicotinic, gamma (muscle) 95 muscle contraction cell junction|postsynaptic membrane acetylcholine receptor activity breast(2)|endometrium(3)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1) 22 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Epithelial(121;6.39e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00079)|LUSC - Lung squamous cell carcinoma(224;0.00757)|Lung(119;0.0086) GCGAGACTACGAAGGCCTGTG 0.662000 4 21 0 0 1 0 0 LPPR4 9890 broad.mit.edu 37 1 99772020 99772020 + Missense_Mutation SNP G G T TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr1:99772020G>T ENST00000370185.3 + 7 2243 c.1746G>T c.(1744-1746)atG>atT p.M582I LPPR4_ENST00000370184.1_Missense_Mutation_p.M424I|LPPR4_ENST00000457765.1_Missense_Mutation_p.M524I NM_014839.4 NP_055654.2 Q7Z2D5 LPPR4_HUMAN 582 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) TCATAGCCATGTCCAAGCAGC 0.537000 20 58 1.00905e-13 1.37116e-13 1 1 0 RAP1GDS1 5910 broad.mit.edu 37 4 99338644 99338644 + Missense_Mutation SNP G G C TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr4:99338644G>C ENST00000408927.3 + 9 1147 c.1034G>C c.(1033-1035)aGa>aCa p.R345T RAP1GDS1_ENST00000408900.3_Missense_Mutation_p.R296T|RAP1GDS1_ENST00000264572.7_Missense_Mutation_p.R254T|RAP1GDS1_ENST00000339360.5_Missense_Mutation_p.R346T|RAP1GDS1_ENST00000380158.4_Missense_Mutation_p.R297T|RAP1GDS1_ENST00000453712.2_Missense_Mutation_p.R346T NM_001100426.1|NM_001100427.1|NM_021159.4 NP_001093896.1|NP_001093897.1|NP_066982.3 P52306 GDS1_HUMAN RAP1, GTP-GDP dissociation stimulator 1 345 binding|GTPase activator activity breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1) 28 OV - Ovarian serous cystadenocarcinoma(123;2.9e-07)|LUSC - Lung squamous cell carcinoma(1;0.0253)|Lung(1;0.0576) AATTTTGCCAGAAATGGTAAG 0.368000 T NUP98 T-ALL 4 22 0 0 1 0 0 GTSE1 51512 broad.mit.edu 37 22 46724609 46724609 + Missense_Mutation SNP C C A TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr22:46724609C>A ENST00000454366.1 + 10 1961 c.1749C>A c.(1747-1749)aaC>aaA p.N583K NM_016426.6 NP_057510.4 Q9NYZ3 GTSE1_HUMAN G-2 and S-phase expressed 1 564 DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2 phase of mitotic cell cycle|microtubule-based process cytoplasmic microtubule NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3) 27 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.00462) GGGAGAGCAACAGAAAGACAG 0.478000 6 84 0.00116845 0.00124216 1 1 0 PCDHA8 56140 broad.mit.edu 37 5 140220940 140220940 + Missense_Mutation SNP T T G TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr5:140220940T>G ENST00000531613.1 + 1 34 c.34T>G c.(34-36)Tgg>Ggg p.W12G PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA8_ENST00000378123.3_Missense_Mutation_p.W12G|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron NM_018911.2 NP_061734.1 NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6) 78 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCTGGGATCCTGGCGACTACT 0.502000 21 76 0 0 1 0 0 TMEM161B 153396 broad.mit.edu 37 5 87492306 87492306 + Splice_Site SNP C C A TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr5:87492306C>A ENST00000296595.6 - 12 1311 c.e12-1 TMEM161B_ENST00000514135.1_Splice_Site|TMEM161B_ENST00000506536.1_Splice_Site|TMEM161B_ENST00000512429.1_Splice_Site|TMEM161B_ENST00000511218.1_Splice_Site|TMEM161B_ENST00000515293.1_Splice_Site NM_153354.3 NP_699185.1 Q8NDZ6 T161B_HUMAN transmembrane protein 161B integral to membrane endometrium(4)|large_intestine(3)|lung(9)|skin(3)|upper_aerodigestive_tract(1) 20 all_cancers(142;0.000275)|Lung NSC(167;0.00901)|all_lung(232;0.0111)|Colorectal(57;0.0959)|Ovarian(174;0.1) OV - Ovarian serous cystadenocarcinoma(54;6.24e-36)|Epithelial(54;6.8e-31)|all cancers(79;1.07e-26) GAATGATTACCTAGAAAATCA 0.299000 8 33 0.00307968 0.00322314 1 1 0 OR8J1 219477 broad.mit.edu 37 11 56128441 56128441 + Missense_Mutation SNP C C A TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr11:56128441C>A ENST00000303039.3 + 1 751 c.719C>A c.(718-720)aCc>aAc p.T240N NM_001005205.2 NP_001005205.2 Q8NGP2 OR8J1_HUMAN olfactory receptor, family 8, subfamily J, member 1 240 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 47 Esophageal squamous(21;0.00448) GCCTTTTCTACCTGTGCTTCA 0.348000 13 89 0.000151284 0.000167157 1 1 0 OTOL1 131149 broad.mit.edu 37 3 161214743 161214743 + Missense_Mutation SNP C C A TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr3:161214743C>A ENST00000327928.4 + 1 148 c.148C>A c.(148-150)Cca>Aca p.P50T NM_001080440.1 NP_001073909.1 A6NHN0 OTOL1_HUMAN otolin 1 50 collagen central_nervous_system(2)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1) 27 ATCCAGTGGCCCACCTCCAGA 0.468000 8 49 0.000157383 0.000173045 1 1 0 OR51G2 81282 broad.mit.edu 37 11 4936858 4936858 + Missense_Mutation SNP G G T rs143599659 TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr11:4936858G>T ENST00000322013.3 - 1 64 c.36C>A c.(34-36)agC>agA p.S12R MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron NM_001005238.1 NP_001005238.1 Q8NGK0 O51G2_HUMAN olfactory receptor, family 51, subfamily G, member 2 12 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|endometrium(1)|large_intestine(9)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19) TAGCAGAAACGCTGCTGCTGC 0.552000 8 52 7.48243e-07 8.84764e-07 1 1 0 GPR85 54329 broad.mit.edu 37 7 112724213 112724213 + Missense_Mutation SNP C C A TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr7:112724213C>A ENST00000501255.2 - 3 1187 c.564G>T c.(562-564)atG>atT p.M188I GPR85_ENST00000424100.1_Missense_Mutation_p.M188I|GPR85_ENST00000449591.1_Missense_Mutation_p.M188I|GPR85_ENST00000297146.2_Missense_Mutation_p.M188I NM_001146265.1|NM_001146266.1|NM_018970.6 NP_001139737.1|NP_001139738.1|NP_061843.3 P60893 GPR85_HUMAN G protein-coupled receptor 85 188 integral to membrane|plasma membrane G-protein coupled receptor activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 17 CAAGAAGCAGCATAAATCCTA 0.468000 30 78 1.2476e-16 1.74096e-16 1 1 0 FAM155B 27112 broad.mit.edu 37 X 68749734 68749734 + Missense_Mutation SNP G G T TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chrX:68749734G>T ENST00000252338.4 + 3 1396 c.1354G>T c.(1354-1356)Ggt>Tgt p.G452C NM_015686.2 NP_056501.2 O75949 F155B_HUMAN family with sequence similarity 155, member B 453 integral to membrane autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1) 16 CAGCAACCAGGGTGGTGGGGG 0.637000 19 49 2.4624e-09 3.13142e-09 1 1 0 OR2M5 127059 broad.mit.edu 37 1 248309247 248309247 + Silent SNP C C A TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr1:248309247C>A ENST00000366476.1 + 1 798 c.798C>A c.(796-798)cgC>cgA p.R266R NM_001004690.1 NP_001004690.1 A3KFT3 OR2M5_HUMAN olfactory receptor, family 2, subfamily M, member 5 266 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 49 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0388) CATCTGATCGCTCCCCTATGC 0.517000 14 141 9.31168e-06 1.06918e-05 1 1 0 PKN3 29941 broad.mit.edu 37 9 131469282 131469282 + Missense_Mutation SNP G G C TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr9:131469282G>C ENST00000291906.4 + 5 1024 c.631G>C c.(631-633)Gac>Cac p.D211H NM_013355.3 NP_037487.2 Q6P5Z2 PKN3_HUMAN protein kinase N3 211 signal transduction Golgi apparatus|nucleus|perinuclear region of cytoplasm ATP binding|protein binding|protein kinase C activity breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 24 GAGAACACAGGACCGCAAGGC 0.632000 9 110 0 0 1 0 0 SNHG14 104472715 broad.mit.edu 37 15 25463919 25463919 + RNA SNP G G T TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr15:25463919G>T ENST00000424208.1 + 0 2994 SNHG14_ENST00000453082.2_RNA NR_003305.1 TTTTGGACCTGGGACCTGGTG 0.582000 11 101 1.58986e-06 1.86684e-06 1 1 0 CHD8 57680 broad.mit.edu 37 14 21870664 21870664 + Splice_Site SNP T T A TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr14:21870664T>A ENST00000399982.2 - 18 3779 c.e18-2 CHD8_ENST00000557364.1_Splice_Site|CHD8_ENST00000555962.1_Splice_Site|CHD8_ENST00000430710.3_Splice_Site NM_001170629.1 NP_001164100.1 Q9HCK8 CHD8_HUMAN chromodomain helicase DNA binding protein 8 ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent MLL1 complex ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 85 all_cancers(95;0.00121) Epithelial(56;2.55e-06)|all cancers(55;1.73e-05) GBM - Glioblastoma multiforme(265;0.00424) TGCCTGGGCCTGGTTTAAAAT 0.408000 4 28 0 0 1 0 0 S1PR4 8698 broad.mit.edu 37 19 3179881 3179881 + Missense_Mutation SNP C C G TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr19:3179881C>G ENST00000246115.3 + 1 1146 c.1091C>G c.(1090-1092)tCc>tGc p.S364C NM_003775.3 NP_003766.1 O95977 S1PR4_HUMAN sphingosine-1-phosphate receptor 4 364 activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|immune response integral to plasma membrane lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity breast(1)|kidney(2)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 13 TTTCGCGGCTCCCGCTCGCTC 0.672000 19 90 0 0 1 0 0 C3AR1 719 broad.mit.edu 37 12 8211813 8211813 + Missense_Mutation SNP G G C TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr12:8211813G>C ENST00000307637.4 - 2 1172 c.969C>G c.(967-969)ttC>ttG p.F323L NM_004054.2 NP_004045.1 Q16581 C3AR_HUMAN complement component 3a receptor 1 323 blood circulation|chemotaxis|elevation of cytosolic calcium ion concentration|inflammatory response integral to plasma membrane C3a anaphylatoxin receptor activity|complement component C3a receptor activity|phosphatidylinositol phospholipase C activity breast(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1) 20 Kidney(36;0.0893) CGTCATCTGTGAATTGGCCTA 0.458000 7 105 0 0 1 0 0 ZCCHC6 79670 broad.mit.edu 37 9 88960655 88960655 + Missense_Mutation SNP C C A TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr9:88960655C>A ENST00000375961.2 - 4 962 c.748G>T c.(748-750)Gat>Tat p.D250Y ZCCHC6_ENST00000375960.2_Missense_Mutation_p.D250Y|ZCCHC6_ENST00000277141.6_5'UTR|ZCCHC6_ENST00000375947.1_Missense_Mutation_p.D83Y|ZCCHC6_ENST00000375963.3_Missense_Mutation_p.D250Y Q5VYS8 TUT7_HUMAN zinc finger, CCHC domain containing 6 250 RNA 3'-end processing nucleic acid binding|RNA uridylyltransferase activity|zinc ion binding breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1) 46 ATTAAAACATCACAGAGTCTG 0.358000 4 35 0.00024832 0.00027126 1 1 0 TRPA1 8989 broad.mit.edu 37 8 72973953 72973953 + Missense_Mutation SNP G G T TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr8:72973953G>T ENST00000262209.4 - 7 1058 c.851C>A c.(850-852)gCc>gAc p.A284D NM_007332.2 NP_015628.2 O75762 TRPA1_HUMAN transient receptor potential cation channel, subfamily A, member 1 284 integral to plasma membrane NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1) 98 Epithelial(68;0.223) Menthol(DB00825) AATCTCAGTGGCTCCCTGGGT 0.408000 7 58 2.0095e-06 2.34325e-06 1 1 0 MS4A3 932 broad.mit.edu 37 11 59834501 59834501 + Silent SNP A A T TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr11:59834501A>T ENST00000278865.3 + 5 502 c.429A>T c.(427-429)atA>atT p.I143I MS4A3_ENST00000395032.2_Silent_p.I20I|MS4A3_ENST00000358152.2_Silent_p.I97I|MS4A3_ENST00000534744.1_Silent_p.I97I NM_006138.4 NP_006129.4 Q96HJ5 MS4A3_HUMAN membrane-spanning 4-domains, subfamily A, member 3 (hematopoietic cell-specific) 143 endomembrane system|integral to membrane|perinuclear region of cytoplasm protein binding|receptor activity endometrium(4)|kidney(2)|lung(9)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 21 all_epithelial(135;0.245) CACTAAATATAGCAGTTAATA 0.363000 9 19 0 0 1 0 0 MROH2B 133558 broad.mit.edu 37 5 41033257 41033257 + Missense_Mutation SNP C C A TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr5:41033257C>A ENST00000399564.4 - 23 2697 c.2247G>T c.(2245-2247)atG>atT p.M749I MROH2B_ENST00000506092.2_Missense_Mutation_p.M304I NM_173489.4 NP_775760.3 maestro heat-like repeat family member 2B TTTGCAGATCCATGTCCTAAA 0.428000 5 18 0.184627 0.185177 1 1 0 CCDC116 164592 broad.mit.edu 37 22 21989501 21989501 + Silent SNP A A G TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr22:21989501A>G ENST00000292779.3 + 4 1310 c.1149A>G c.(1147-1149)agA>agG p.R383R NM_152612.2 NP_689825.2 Q8IYX3 CC116_HUMAN coiled-coil domain containing 116 383 endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(5) 22 Colorectal(54;0.105) GCAAGGACAGAGGAGGCTCCC 0.607000 7 45 0 0 1 0 0 BTRC 8945 broad.mit.edu 37 10 103285902 103285902 + Missense_Mutation SNP A A T TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr10:103285902A>T ENST00000370187.3 + 6 807 c.689A>T c.(688-690)gAg>gTg p.E230V BTRC_ENST00000408038.2_Missense_Mutation_p.E194V|BTRC_ENST00000393441.4_Missense_Mutation_p.E189V NM_033637.3 NP_378663.1 Q9Y297 FBW1A_HUMAN beta-transducin repeat containing E3 ubiquitin protein ligase 230 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|positive regulation of proteolysis|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|viral reproduction|Wnt receptor signaling pathway cytosol|nucleus|SCF ubiquitin ligase complex endometrium(4)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1) 27 Colorectal(252;0.234) Epithelial(162;1.05e-08)|all cancers(201;6.59e-07) AAGCTTATCGAGAGAATGGTC 0.493000 8 72 0 0 1 0 0 TFAM 7019 broad.mit.edu 37 10 60148449 60148449 + Missense_Mutation SNP G G T TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr10:60148449G>T ENST00000487519.1 + 4 837 c.311G>T c.(310-312)aGg>aTg p.R104M TFAM_ENST00000373895.3_Missense_Mutation_p.R104M|TFAM_ENST00000373899.3_3'UTR NM_003201.1 NP_003192.1 Q00059 TFAM_HUMAN transcription factor A, mitochondrial 104 DNA-dependent DNA replication|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase I promoter|transcription initiation from mitochondrial promoter mitochondrial nucleoid mitochondrial light strand promoter sense binding|protein binding|sequence-specific DNA binding transcription factor activity kidney(1)|large_intestine(1)|lung(4)|prostate(1) 7 GATGCTTATAGGGCGGAGTGG 0.368000 26 78 2.08457e-15 2.88501e-15 1 1 0 SETDB2 83852 broad.mit.edu 37 13 50059826 50059826 + Missense_Mutation SNP G G A TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr13:50059826G>A ENST00000354234.4 + 11 2449 c.1543G>A c.(1543-1545)Gag>Aag p.E515K SETDB2_ENST00000317257.8_Missense_Mutation_p.E527K|SETDB2_ENST00000258672.5_Missense_Mutation_p.E515K NM_001160308.1 NP_001153780.1 Q96T68 SETB2_HUMAN SET domain, bifurcated 2 527 SET. cell division|chromosome segregation|heart looping|left/right axis specification|mitosis|negative regulation of transcription, DNA-dependent chromosome|nucleus DNA binding|histone methyltransferase activity (H3-K9 specific)|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1) 15 Lung NSC(96;0.000408)|Breast(56;0.00131)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236) KIRC - Kidney renal clear cell carcinoma(9;0.206) GBM - Glioblastoma multiforme(99;3.1e-09) ACCACCCCGAGAGCATCTGAA 0.423000 11 62 0 0 1 0 0 AKAP9 10142 broad.mit.edu 37 7 91632198 91632198 + Missense_Mutation SNP A A T TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr7:91632198A>T ENST00000359028.2 + 9 3228 c.3003A>T c.(3001-3003)caA>caT p.Q1001H AKAP9_ENST00000356239.3_Missense_Mutation_p.Q989H|AKAP9_ENST00000358100.2_Missense_Mutation_p.Q1001H Q99996 AKAP9_HUMAN A kinase (PRKA) anchor protein 9 1001 Glu-rich. Q -> P (in Ref. 1; AAB86384 and 2; CAB40713). G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport centrosome|cytosol|Golgi apparatus receptor binding NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2) 155 all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) AGAAAGAACAAGTTTCATTGA 0.338000 T BRAF papillary thyroid 10 69 0 0 1 0 0 FAM83G 644815 broad.mit.edu 37 17 18882133 18882133 + Silent SNP C C A TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr17:18882133C>A ENST00000388995.6 - 5 1069 c.846G>T c.(844-846)cgG>cgT p.R282R SLC5A10_ENST00000317977.6_Intron|SLC5A10_ENST00000395643.2_Intron|SLC5A10_ENST00000417251.2_Intron|SLC5A10_ENST00000395645.3_Intron|SLC5A10_ENST00000395647.2_Intron|FAM83G_ENST00000585154.2_Silent_p.R282R|FAM83G_ENST00000345041.4_Silent_p.R282R|SLC5A10_ENST00000395642.1_Intron A6ND36 FA83G_HUMAN family with sequence similarity 83, member G 282 central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1) 22 AGATCACATTCCGGTCCGTCC 0.637000 20 63 6.33239e-15 8.74596e-15 1 1 0 TRPM8 79054 broad.mit.edu 37 2 234835184 234835184 + Translation_Start_Site SNP T T C TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr2:234835184T>C ENST00000324695.4 + 2 42 c.2T>C c.(1-3)aTg>aCg p.M1T TRPM8_ENST00000433712.2_5'UTR NM_024080.4 NP_076985.4 Q7Z2W7 TRPM8_HUMAN transient receptor potential cation channel, subfamily M, member 8 1 integral to membrane breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2) 66 Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224) Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108) Menthol(DB00825) ACAGAAAAGATGTCCTTTCGG 0.542000 14 70 0 0 1 0 0 SCN5A 6331 broad.mit.edu 37 3 38616821 38616821 + Missense_Mutation SNP G G C TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr3:38616821G>C ENST00000413689.1 - 20 3826 c.3633C>G c.(3631-3633)atC>atG p.I1211M SCN5A_ENST00000451551.2_Missense_Mutation_p.I1157M|SCN5A_ENST00000425664.1_Missense_Mutation_p.I1211M|SCN5A_ENST00000443581.1_Missense_Mutation_p.I1210M|SCN5A_ENST00000449557.2_Missense_Mutation_p.I1157M|SCN5A_ENST00000450102.2_Missense_Mutation_p.I1157M|SCN5A_ENST00000333535.4_Missense_Mutation_p.I1211M|SCN5A_ENST00000423572.2_Missense_Mutation_p.I1210M|SCN5A_ENST00000455624.2_Missense_Mutation_p.I1210M|SCN5A_ENST00000414099.2_Missense_Mutation_p.I1211M NM_001099404.1|NM_001160160.1 NP_001092874.1|NP_001153632.1 Q14524 SCN5A_HUMAN sodium channel, voltage-gated, type V, alpha subunit 1211 blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction sarcolemma|voltage-gated sodium channel complex protein binding|voltage-gated sodium channel activity NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4) 107 Medulloblastoma(35;0.163) KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1) Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661) TCATGAAGATGATGAATGTCT 0.617000 12 12 0 0 1 0 0 MYH3 4621 broad.mit.edu 37 17 10535154 10535154 + Missense_Mutation SNP C C G TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr17:10535154C>G ENST00000583535.1 - 35 5223 c.5136G>C c.(5134-5136)gaG>gaC p.E1712D MYH3_ENST00000226209.7_Missense_Mutation_p.E1712D NM_002470.3 NP_002461.2 P11055 MYH3_HUMAN myosin, heavy chain 3, skeletal muscle, embryonic 1712 muscle filament sliding|muscle organ development cytosol|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 83 GCTGCACCCTCTCGTTGGAGT 0.637000 13 71 0 0 1 0 0 GALNT13 114805 broad.mit.edu 37 2 155265539 155265539 + Missense_Mutation SNP G G T TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr2:155265539G>T ENST00000392825.3 + 11 1907 c.1340G>T c.(1339-1341)cGc>cTc p.R447L GALNT13_ENST00000487047.1_3'UTR|GALNT13_ENST00000409237.1_Missense_Mutation_p.R447L NM_052917.2 NP_443149.2 Q8IUC8 GLT13_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13) 447 Ricin B-type lectin. Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 65 AACATGGGCCGCAAGGAAAAT 0.363000 5 40 8.12818e-05 9.01052e-05 1 1 0 CNOT6 57472 broad.mit.edu 37 5 179994113 179994113 + Missense_Mutation SNP G G T TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr5:179994113G>T ENST00000393356.1 + 10 1167 c.743G>T c.(742-744)aGt>aTt p.S248I CNOT6_ENST00000261951.4_Missense_Mutation_p.S248I Q9ULM6 CNOT6_HUMAN CCR4-NOT transcription complex, subunit 6 248 nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nucleus exonuclease activity|metal ion binding|protein binding|RNA binding central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|skin(1) 23 all_cancers(89;3.3e-05)|all_epithelial(37;7.38e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114) all_cancers(40;0.00543)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) OV - Ovarian serous cystadenocarcinoma(192;0.023) CAGTATTACAGTTTTTTTCTG 0.348000 12 70 1.49906e-05 1.70382e-05 1 1 0 AIPL1 23746 broad.mit.edu 37 17 6338338 6338338 + Silent SNP G G A TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr17:6338338G>A ENST00000381129.3 - 1 167 c.87C>T c.(85-87)acC>acT p.T29T AIPL1_ENST00000250087.5_Silent_p.T29T|AIPL1_ENST00000576776.1_Silent_p.T29T|AIPL1_ENST00000575265.1_Silent_p.T29T|AIPL1_ENST00000574506.1_Silent_p.T29T|AIPL1_ENST00000571740.1_Silent_p.T29T|AIPL1_ENST00000570466.1_Silent_p.T29T|AIPL1_ENST00000576307.1_Silent_p.T29T NM_001033055.1|NM_014336.3 NP_001028227.1|NP_055151.3 Q9NZN9 AIPL1_HUMAN aryl hydrocarbon receptor interacting protein-like 1 29 protein farnesylation|protein folding|visual perception cytoplasm|nucleus farnesylated protein binding|unfolded protein binding NS(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|skin(1) 12 COAD - Colon adenocarcinoma(228;0.141) CTCGGGATCCGGTGATGAAGT 0.597000 12 49 0 0 1 0 0 EBF3 253738 broad.mit.edu 37 10 131761266 131761266 + Missense_Mutation SNP G G T TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr10:131761266G>T ENST00000368648.3 - 3 367 c.295C>A c.(295-297)Cca>Aca p.P99T EBF3_ENST00000355311.5_Missense_Mutation_p.P99T NM_001005463.2 NP_001005463.1 Q9H4W6 COE3_HUMAN early B-cell factor 3 99 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|metal ion binding|protein binding central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 44 all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764) OV - Ovarian serous cystadenocarcinoma(35;0.00513) TCGTTGTTTGGCTCCTGAAAG 0.567000 33 87 4.39465e-27 6.34259e-27 1 1 0 OR7G2 390882 broad.mit.edu 37 19 9213806 9213806 + Silent SNP G G T TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr19:9213806G>T ENST00000305456.2 - 1 176 c.177C>A c.(175-177)acC>acA p.T59T NM_001005193.1 NP_001005193.1 Q8NG99 OR7G2_HUMAN olfactory receptor, family 7, subfamily G, member 2 38 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|skin(3) 16 TCCCCAGGATGGTGACCAAGT 0.498000 33 69 1.45844e-13 1.97784e-13 1 1 0 COL1A1 1277 broad.mit.edu 37 17 48268221 48268221 + Missense_Mutation SNP C C A TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr17:48268221C>A ENST00000225964.5 - 33 2418 c.2300G>T c.(2299-2301)gGc>gTc p.G767V NM_000088.3 NP_000079.2 P02452 CO1A1_HUMAN collagen, type I, alpha 1 767 Triple-helical region. G -> S (in OI3; severe). axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception collagen type I|extracellular space|plasma membrane identical protein binding|platelet-derived growth factor binding COL1A1/PDGFB(429) NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 71 Collagenase(DB00048)|Palifermin(DB00039) ACCAATGGGGCCAGTCAGACC 0.597000 T """PDGFB, USP6""" """dermatofibrosarcoma protuberans, aneurysmal bone cyst """ Osteogenesis imperfecta 13 68 1.5842e-08 1.98836e-08 1 1 0 HERC4 26091 broad.mit.edu 37 10 69714793 69714793 + Missense_Mutation SNP C C G TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr10:69714793C>G ENST00000395198.3 - 19 2391 c.2144G>C c.(2143-2145)aGa>aCa p.R715T HERC4_ENST00000277817.6_Missense_Mutation_p.R605T|HERC4_ENST00000395187.2_3'UTR|HERC4_ENST00000373700.4_Missense_Mutation_p.R707T|HERC4_ENST00000412272.2_Missense_Mutation_p.R715T|HERC4_ENST00000480158.1_5'UTR NM_022079.2 NP_071362.1 Q5GLZ8 HERC4_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase 4 715 cell differentiation|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|spermatogenesis cytosol ubiquitin-protein ligase activity NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 27 AATATTTTCTCTACGCACCAC 0.398000 24 45 0 0 1 0 0 PSEN2 5664 broad.mit.edu 37 1 227075801 227075801 + Missense_Mutation SNP G G T TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr1:227075801G>T ENST00000366782.1 + 7 1107 c.607G>T c.(607-609)Ggc>Tgc p.G203C PSEN2_ENST00000391872.2_Missense_Mutation_p.G203C|PSEN2_ENST00000422240.2_Missense_Mutation_p.G170C|PSEN2_ENST00000366783.3_Missense_Mutation_p.G170C|PSEN2_ENST00000472139.2_Missense_Mutation_p.G26C|PSEN2_ENST00000340188.4_Missense_Mutation_p.G170C P49810 PSN2_HUMAN presenilin 2 (Alzheimer disease 4) 170 amyloid precursor protein catabolic process|anti-apoptosis|apoptosis|beta-amyloid metabolic process|calcium ion transport|induction of apoptosis by extracellular signals|intracellular signal transduction|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity apical plasma membrane|axon|cell cortex|cell surface|centrosome|ciliary rootlet|dendritic shaft|endoplasmic reticulum membrane|Golgi membrane|growth cone|integral to plasma membrane|kinetochore|lysosomal membrane|membrane raft|mitochondrial inner membrane|neuromuscular junction|neuronal cell body|nuclear inner membrane|perinuclear region of cytoplasm|Z disc aspartic-type endopeptidase activity|protein binding cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|urinary_tract(1) 20 Prostate(94;0.0771) GTTCATCCATGGCTGGTTGAT 0.512000 8 73 1.12685e-05 1.28511e-05 1 1 0 NRCAM 4897 broad.mit.edu 37 7 107818513 107818513 + Missense_Mutation SNP C C A TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr7:107818513C>A ENST00000379028.3 - 26 3366 c.2896G>T c.(2896-2898)Gac>Tac p.D966Y NRCAM_ENST00000425651.2_Missense_Mutation_p.D966Y|NRCAM_ENST00000351718.4_Missense_Mutation_p.D950Y|NRCAM_ENST00000413765.2_Missense_Mutation_p.D947Y|NRCAM_ENST00000379022.4_Missense_Mutation_p.D966Y|NRCAM_ENST00000379024.4_Missense_Mutation_p.D947Y Q92823 NRCAM_HUMAN neuronal cell adhesion molecule 966 Fibronectin type-III 4. angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly external side of plasma membrane|integral to plasma membrane ankyrin binding breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4) 65 GTGAGAGAGTCCAGTGTTGGA 0.443000 12 49 2.27111e-07 2.74817e-07 1 1 0 MCM6 4175 broad.mit.edu 37 2 136620241 136620241 + Missense_Mutation SNP G G T TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr2:136620241G>T ENST00000264156.2 - 8 1216 c.1156C>A c.(1156-1158)Ctt>Att p.L386I MCM6_ENST00000492091.1_5'UTR NM_005915.5 NP_005906.2 Q14566 MCM6_HUMAN minichromosome maintenance complex component 6 386 MCM. PKTTGEGTSLR -> SKDNRRRDLSS (in Ref. 2; AAC50766). cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle MCM complex ATP binding|identical protein binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(15)|prostate(2)|skin(1) 29 BRCA - Breast invasive adenocarcinoma(221;0.166) Atorvastatin(DB01076) TCCCCTCGAAGAGAGGTCCCT 0.453000 11 111 0.00185496 0.00196579 1 1 0 C2CD2L 9854 broad.mit.edu 37 11 118985022 118985022 + Missense_Mutation SNP C C T TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr11:118985022C>T ENST00000336702.3 + 13 2218 c.1859C>T c.(1858-1860)tCg>tTg p.S620L C2CD2L_ENST00000528586.1_Missense_Mutation_p.S367L NM_014807.3 NP_055622.3 O14523 C2C2L_HUMAN C2CD2-like 619 integral to membrane NS(1)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1) 13 GATATTGAGTCGGAAACGGGG 0.552000 23 137 0 0 1 0 0 PDZD2 23037 broad.mit.edu 37 5 32048715 32048715 + Silent SNP C C T TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr5:32048715C>T ENST00000438447.1 + 8 1978 c.1590C>T c.(1588-1590)atC>atT p.I530I PDZD2_ENST00000282493.3_Silent_p.I530I O15018 PDZD2_HUMAN PDZ domain containing 2 530 cell adhesion cell-cell junction|endoplasmic reticulum|extracellular region|nucleus NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 148 ACCCCCGGATCCGGATGTTGG 0.552000 9 51 0 0 1 0 0 CACNA1B 774 broad.mit.edu 37 9 140938298 140938298 + Missense_Mutation SNP G G T TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr9:140938298G>T ENST00000277549.5 + 21 3504 c.935G>T c.(934-936)gGc>gTc p.G312V CACNA1B_ENST00000371363.1_Missense_Mutation_p.G1120V|CACNA1B_ENST00000371357.1_Missense_Mutation_p.G1121V|CACNA1B_ENST00000545473.1_Missense_Mutation_p.G146V|CACNA1B_ENST00000371355.4_Missense_Mutation_p.G1121V|CACNA1B_ENST00000277551.2_Missense_Mutation_p.G1120V|CACNA1B_ENST00000371372.1_Missense_Mutation_p.G1120V Q00975 CAC1B_HUMAN calcium channel, voltage-dependent, N type, alpha 1B subunit 1120 membrane depolarization|synaptic transmission voltage-gated calcium channel complex ATP binding|protein C-terminus binding|voltage-gated calcium channel activity NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2) 80 all_cancers(76;0.166) OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476) Amlodipine(DB00381)|Gabapentin(DB00996) ATGAGGAGCGGCCCCCGGCCT 0.597000 60 181 6.20203e-27 8.93199e-27 1 1 0 RPSA 3921 broad.mit.edu 37 3 39453811 39453811 + Silent SNP C C T TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr3:39453811C>T ENST00000301821.6 + 7 949 c.840C>T c.(838-840)ccC>ccT p.P280P RPSA_ENST00000443003.1_Silent_p.P285P|RPSA_ENST00000478027.1_3'UTR NM_001012321.1|NM_002295.4 NP_001012321.1|NP_002286.2 P08865 RSSA_HUMAN ribosomal protein SA 280 Laminin-binding. cell adhesion|endocrine pancreas development|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 3'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|ribosomal small subunit assembly|rRNA export from nucleus|translational elongation|translational termination|viral transcription 90S preribosome|cytosolic small ribosomal subunit|nucleus|plasma membrane protein binding|receptor activity|ribosome binding|structural constituent of ribosome endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1) 7 KIRC - Kidney renal clear cell carcinoma(284;0.0509)|Kidney(284;0.064) CTGCAGCTCCCACTGCTCAGG 0.473000 7 31 0 0 1 0 0 FBN1 2200 broad.mit.edu 37 15 48764762 48764762 + Missense_Mutation SNP C C A TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr15:48764762C>A ENST00000316623.5 - 35 4777 c.4322G>T c.(4321-4323)gGg>gTg p.G1441V NM_000138.4 NP_000129.3 P35555 FBN1_HUMAN fibrillin 1 1441 EGF-like 24; calcium-binding. heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development basement membrane|extracellular space|microfibril calcium ion binding|extracellular matrix structural constituent|protein binding NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 139 all_lung(180;0.00279) all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05) ACAGGCTTTCCCGTCAGCACT 0.493000 18 121 2.94398e-08 3.64751e-08 1 1 0 CDKN2A 1029 broad.mit.edu 37 9 21971056 21971056 + Missense_Mutation SNP C C A TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr9:21971056C>A ENST00000304494.5 - 2 572 c.302G>T c.(301-303)gGg>gTg p.G101V CDKN2A_ENST00000494262.1_Missense_Mutation_p.G50V|CDKN2A_ENST00000498124.1_Missense_Mutation_p.G101V|CDKN2A_ENST00000361570.3_Silent_p.R156R|CDKN2A_ENST00000497750.1_Missense_Mutation_p.G50V|CDKN2A_ENST00000446177.1_Missense_Mutation_p.G101V|CDKN2A_ENST00000579122.1_Missense_Mutation_p.G101V|CDKN2A_ENST00000578845.2_Missense_Mutation_p.G50V|CDKN2A_ENST00000498628.2_Missense_Mutation_p.G50V|CDKN2A_ENST00000479692.2_Missense_Mutation_p.G50V|CDKN2A_ENST00000579755.1_Silent_p.R115R|CDKN2A_ENST00000530628.2_Silent_p.R115R|RP11-145E5.5_ENST00000404796.2_Intron NM_000077.4 NP_000068.1 P42771 CD2A1_HUMAN cyclin-dependent kinase inhibitor 2A 101 G -> W (in CMM2 and FAMMMPC; impairs the function). cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence cytosol|nucleus cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding p.0?(1315)|p.?(44)|p.H83fs*2(2)|p.A102fs*18(1)|p.0(1)|p.G101fs*17(1)|p.T93_D105del(1)|p.A68fs*3(1)|p.A102fs*42(1) NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2) 4199 all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172) all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05) CAGCCGCGCCCCGGCCCGGTG 0.751000 17 HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07) 14 26 0.000422831 0.000458919 1 1 0 CCDC80 151887 broad.mit.edu 37 3 112357597 112357597 + Missense_Mutation SNP T T C TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr3:112357597T>C ENST00000206423.3 - 2 2109 c.1156A>G c.(1156-1158)Agg>Ggg p.R386G CCDC80_ENST00000439685.2_Missense_Mutation_p.R386G NM_199511.1|NM_199512.1 NP_955805.1|NP_955806.1 Q76M96 CCD80_HUMAN coiled-coil domain containing 80 386 Thr-rich. breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(21)|ovary(3)|pancreas(2)|prostate(4) 51 GTCCAGGGCCTCTGCGTGGTG 0.612000 17 76 0 0 1 0 0 AEBP1 165 broad.mit.edu 37 7 44147457 44147457 + Silent SNP G G A TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr7:44147457G>A ENST00000223357.3 + 5 1094 c.789G>A c.(787-789)agG>agA p.R263R NM_001129.3 NP_001120.3 Q8IUX7 AEBP1_HUMAN AE binding protein 1 263 Pro-rich. cell adhesion|muscle organ development|proteolysis|skeletal system development cytoplasm|extracellular space|nucleus DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2) 33 CAAGCAGAAGGAGGAGGCCCG 0.682000 7 37 0 0 1 0 0 UHRF1BP1 54887 broad.mit.edu 37 6 34804068 34804068 + Missense_Mutation SNP C C A TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr6:34804068C>A ENST00000192788.5 + 8 1147 c.976C>A c.(976-978)Ctg>Atg p.L326M UHRF1BP1_ENST00000452449.2_Missense_Mutation_p.L326M NM_017754.3 NP_060224.3 Q6BDS2 URFB1_HUMAN UHRF1 binding protein 1 326 breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2) 54 CTCCTACCATCTGCTCATCTC 0.587000 11 178 3.07112e-06 3.55659e-06 1 1 0 TGFBR1 7046 broad.mit.edu 37 9 101907035 101907035 + Missense_Mutation SNP G G C TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr9:101907035G>C ENST00000374994.4 + 6 1112 c.995G>C c.(994-996)aGa>aCa p.R332T TGFBR1_ENST00000374990.2_Missense_Mutation_p.R255T|TGFBR1_ENST00000550253.1_Missense_Mutation_p.R263T|TGFBR1_ENST00000552516.1_Missense_Mutation_p.R336T NM_004612.2 NP_004603.1 P36897 TGFR1_HUMAN transforming growth factor, beta receptor 1 332 Protein kinase. activation of MAPKK activity|anterior/posterior pattern formation|artery morphogenesis|collagen fibril organization|embryonic cranial skeleton morphogenesis|germ cell migration|heart development|kidney development|neuron fate commitment|palate development|parathyroid gland development|pathway-restricted SMAD protein phosphorylation|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|pharyngeal system development|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of cellular component movement|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of SMAD protein import into nucleus|positive regulation of survival gene product expression|positive regulation of transcription, DNA-dependent|response to cholesterol|thymus development|transforming growth factor beta receptor signaling pathway ATP binding|I-SMAD binding|metal ion binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type I|type II transforming growth factor beta receptor binding endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1) 27 Acute lymphoblastic leukemia(62;0.0559) ATTGCTCATAGAGATTTGAAA 0.358000 12 56 0 0 1 0 0 GAPDH 2597 broad.mit.edu 37 12 6647021 6647021 + Missense_Mutation SNP C C T rs11549316 TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr12:6647021C>T ENST00000229239.5 + 8 1463 c.797C>T c.(796-798)tCg>tTg p.S266L GAPDH_ENST00000396861.1_Missense_Mutation_p.S266L|RP5-940J5.9_ENST00000602946.1_RNA|GAPDH_ENST00000396856.1_Missense_Mutation_p.S191L|GAPDH_ENST00000396858.1_Missense_Mutation_p.S224L|GAPDH_ENST00000396859.1_Missense_Mutation_p.S266L NM_002046.4 NP_002037.2 P04406 G3P_HUMAN glyceraldehyde-3-phosphate dehydrogenase 266 gluconeogenesis|glycolysis|neuron apoptosis|peptidyl-cysteine S-trans-nitrosylation|protein stabilization cytosol|membrane|nucleus|perinuclear region of cytoplasm glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity|NAD binding|peptidyl-cysteine S-nitrosylase activity|protein binding central_nervous_system(1)|cervix(1)|endometrium(1)|lung(4) 7 NADH(DB00157) AAGCAGGCGTCGGAGGGCCCC 0.582000 OREG0021628 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 6 52 0 0 1 0 0 CCKBR 887 broad.mit.edu 37 11 6292526 6292526 + Missense_Mutation SNP C C G TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr11:6292526C>G ENST00000525462.1 + 4 1307 c.1304C>G c.(1303-1305)gCa>gGa p.A435G CCKBR_ENST00000532715.1_Missense_Mutation_p.A282G|CCKBR_ENST00000334619.2_Missense_Mutation_p.A366G P32239 GASR_HUMAN cholecystokinin B receptor 366 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cell proliferation|digestion|elevation of cytosolic calcium ion concentration|feeding behavior|positive regulation of cell proliferation|sensory perception 1-phosphatidylinositol-3-kinase regulator activity|gastrin receptor activity|phosphatidylinositol phospholipase C activity|type B gastrin/cholecystokinin receptor binding NS(2)|breast(2)|endometrium(4)|kidney(13)|large_intestine(10)|lung(22)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 61 Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029) Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139) Pentagastrin(DB00183) GCACACCGAGCACTCTCGGGT 0.557000 13 133 0 0 1 0 0 LMX1A 4009 broad.mit.edu 37 1 165177307 165177307 + Silent SNP C C T TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr1:165177307C>T ENST00000342310.3 - 7 1192 c.810G>A c.(808-810)ctG>ctA p.L270L LMX1A_ENST00000367893.4_Silent_p.L270L|LMX1A_ENST00000294816.2_Silent_p.L270L|LMX1A_ENST00000489443.2_5'UTR NM_177398.3 NP_796372.1 Q8TE12 LMX1A_HUMAN LIM homeobox transcription factor 1, alpha 270 Gln-rich. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|biliary_tract(1)|central_nervous_system(3)|cervix(2)|endometrium(4)|large_intestine(6)|lung(10)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(4) 35 all_hematologic(923;0.248) TACCAGAGCTCAGCCTCTGGG 0.557000 5 27 0 0 1 0 0 MFSD9 84804 broad.mit.edu 37 2 103343412 103343412 + Nonsense_Mutation SNP C C A TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr2:103343412C>A ENST00000258436.5 - 4 362 c.319G>T c.(319-321)Gga>Tga p.G107* NM_032718.3 NP_116107.3 Q8NBP5 MFSD9_HUMAN major facilitator superfamily domain containing 9 107 transmembrane transport integral to membrane|plasma membrane transporter activity breast(3)|large_intestine(7)|liver(1)|lung(6)|ovary(2)|skin(1) 20 GACCGTCTTCCCACTACATCG 0.502000 7 50 8.12818e-05 9.01052e-05 1 1 0 B3GALT2 8707 broad.mit.edu 37 1 193149438 193149438 + Missense_Mutation SNP G G T TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr1:193149438G>T ENST00000367434.4 - 2 2010 c.1255C>A c.(1255-1257)Cgt>Agt p.R419S CDC73_ENST00000367435.3_Intron NM_003783.3 NP_003774.1 O43825 B3GT2_HUMAN UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 2 419 protein glycosylation Golgi membrane|integral to membrane UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|ovary(2) 16 TGTAGTTTACGGTGGCGATAC 0.368000 9 74 0.000442599 0.000476537 1 1 0 CACNA1E 777 broad.mit.edu 37 1 181767568 181767568 + Silent SNP C C A TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr1:181767568C>A ENST00000526775.1 + 46 6519 c.6354C>A c.(6352-6354)ggC>ggA p.G2118G CACNA1E_ENST00000360108.3_Silent_p.G2161G|CACNA1E_ENST00000367573.2_Silent_p.G2180G|CACNA1E_ENST00000367567.4_Silent_p.G1744G|CACNA1E_ENST00000358338.5_Silent_p.G2069G|CACNA1E_ENST00000357570.5_Silent_p.G2131G|CACNA1E_ENST00000367570.1_Silent_p.G2137G NM_001205294.1 NP_001192223.1 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, alpha 1E subunit 2180 energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 204 GACACGCGGGCAGCATCTCTC 0.627000 14 91 0.000219431 0.000240483 1 1 0 NGFRAP1 27018 broad.mit.edu 37 X 102632636 102632636 + Missense_Mutation SNP G G C TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chrX:102632636G>C ENST00000361298.4 + 3 552 c.187G>C c.(187-189)Gag>Cag p.E63Q NGFRAP1_ENST00000299872.7_Missense_Mutation_p.E73Q|NGFRAP1_ENST00000372645.3_Missense_Mutation_p.E73Q|NGFRAP1_ENST00000372634.1_Missense_Mutation_p.E63Q|NGFRAP1_ENST00000372635.1_Missense_Mutation_p.E73Q NM_206915.1|NM_206917.1 NP_996798.1|NP_996800.1 Q00994 BEX3_HUMAN nerve growth factor receptor (TNFRSF16) associated protein 1 73 apoptosis|multicellular organismal development|nerve growth factor receptor signaling pathway cytosol|nucleus caspase regulator activity|metal ion binding NS(2)|endometrium(1)|large_intestine(2)|lung(4)|urinary_tract(1) 10 ATTCATGGAGGAGATGAGAGA 0.468000 29 146 0 0 1 0 0 TCF23 150921 broad.mit.edu 37 2 27373006 27373006 + Nonsense_Mutation SNP G G T TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr2:27373006G>T ENST00000296096.5 + 2 368 c.238G>T c.(238-240)Gag>Tag p.E80* NM_175769.2 NP_786951.1 Q7RTU1 TCF23_HUMAN transcription factor 23 80 cell differentiation|muscle organ development|regulation of transcription, DNA-dependent nucleus large_intestine(2)|lung(11)|prostate(1) 14 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GGCCAGTCCTGAGAATGCCGC 0.657000 10 63 0.000442599 0.000476537 1 1 0 RNF213 57674 broad.mit.edu 37 17 78293205 78293205 + Silent SNP C C G TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr17:78293205C>G ENST00000319921.4 + 17 3258 c.3117C>G c.(3115-3117)ctC>ctG p.L1039L RNF213_ENST00000508628.2_Intron|RNF213_ENST00000456466.1_Intron|RNF213_ENST00000582970.1_Intron NM_020954.3 NP_066005.2 Q9HCF4 ALO17_HUMAN ring finger protein 213 0 NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 130 all_neural(118;0.0538) BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057) CGCTGGGTCTCAGCTCCTCCG 0.577000 6 78 0 0 1 0 0 CELSR3 1951 broad.mit.edu 37 3 48685886 48685886 + Silent SNP C C T TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr3:48685886C>T ENST00000544264.1 - 20 7081 c.6801G>A c.(6799-6801)ctG>ctA p.L2267L CELSR3_ENST00000164024.4_Silent_p.L2262L Q9NYQ7 CELR3_HUMAN cadherin, EGF LAG seven-pass G-type receptor 3 2262 homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 83 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619) AGCCGGCCCACAGCAGATTCT 0.642000 3 7 0 0 1 0 0 ABCB5 340273 broad.mit.edu 37 7 20668396 20668396 + Missense_Mutation SNP T T C TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr7:20668396T>C ENST00000404938.2 + 4 846 c.194T>C c.(193-195)aTg>aCg p.M65T NM_001163941.1 NP_001157413.1 Q2M3G0 ABCB5_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 5 264 ABC transporter 1. regulation of membrane potential apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1) 77 CTTCCTTTAATGCCACTGGTT 0.413000 8 19 0 0 1 0 0 CCDC59 29080 broad.mit.edu 37 12 82752003 82752003 + Splice_Site SNP C C A TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr12:82752003C>A ENST00000256151.7 - 1 564 c.154_splice c.e1+1 p.E51_splice CCDC59_ENST00000548126.1_Intron NM_014167.4 NP_054886.2 Q9P031 TAP26_HUMAN coiled-coil domain containing 59 51 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2) 5 CTTACATACCCTCGCGAACGC 0.502000 10 50 1.58986e-06 1.86684e-06 1 1 0 PHACTR3 116154 broad.mit.edu 37 20 58330261 58330261 + Missense_Mutation SNP C C A TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr20:58330261C>A ENST00000371015.1 + 4 850 c.383C>A c.(382-384)cCc>cAc p.P128H PHACTR3_ENST00000395636.2_Missense_Mutation_p.P87H|PHACTR3_ENST00000395639.4_Missense_Mutation_p.P87H|PHACTR3_ENST00000541461.1_Missense_Mutation_p.P87H|PHACTR3_ENST00000361300.4_Missense_Mutation_p.P87H|PHACTR3_ENST00000359926.3_Missense_Mutation_p.P125H|PHACTR3_ENST00000355648.4_Missense_Mutation_p.P87H NM_080672.3 NP_542403.1 Q96KR7 PHAR3_HUMAN phosphatase and actin regulator 3 128 nuclear matrix actin binding|protein phosphatase inhibitor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|liver(2)|lung(32)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 59 all_lung(29;0.00344) BRCA - Breast invasive adenocarcinoma(7;2.76e-09) ACTTGCAACCCCGATGGAGGA 0.567000 5 37 8.12818e-05 9.01052e-05 1 1 0 DCDC1 341019 broad.mit.edu 37 11 30922020 30922020 + Missense_Mutation SNP G G C TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr11:30922020G>C ENST00000597505.1 - 31 4526 c.4527C>G c.(4525-4527)aaC>aaG p.N1509K DCDC1_ENST00000339794.5_Missense_Mutation_p.N588K|DCDC1_ENST00000406071.2_Missense_Mutation_p.N247K P59894 DCDC1_HUMAN doublecortin domain containing 1 0 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) CAAATAATCTGTTTTTCACTT 0.328000 3 9 0 0 1 0 0 SPTAN1 6709 broad.mit.edu 37 9 131370275 131370275 + Missense_Mutation SNP G G C TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr9:131370275G>C ENST00000372739.3 + 33 4401 c.4291G>C c.(4291-4293)Gag>Cag p.E1431Q SPTAN1_ENST00000358161.5_Missense_Mutation_p.E1431Q|SPTAN1_ENST00000372731.4_Missense_Mutation_p.E1431Q NM_001130438.2 NP_001123910.1 Q13813 SPTA2_HUMAN spectrin, alpha, non-erythrocytic 1 1431 actin filament capping|axon guidance|cellular component disassembly involved in apoptosis cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 87 TGCAGACCTGGAGAAGGCCTG 0.532000 15 80 0 0 1 0 0 ISM2 145501 broad.mit.edu 37 14 77950852 77950852 + Silent SNP G G T TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr14:77950852G>T ENST00000393684.3 - 4 568 c.177C>A c.(175-177)ctC>ctA p.L59L ISM2_ENST00000493585.1_Silent_p.L147L|ISM2_ENST00000412904.1_Intron|ISM2_ENST00000429906.1_Silent_p.L66L|ISM2_ENST00000342219.4_Silent_p.L147L Q6H9L7 ISM2_HUMAN isthmin 2 147 Poly-Glu. extracellular region endometrium(3)|large_intestine(4)|lung(11)|prostate(1)|skin(1)|urinary_tract(1) 21 GGGTTCTGGGGAGCAGTCGTG 0.612000 10 47 7.48243e-07 8.84764e-07 1 1 0 LONRF1 91694 broad.mit.edu 37 8 12595582 12595582 + Silent SNP T T C TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr8:12595582T>C ENST00000398246.3 - 4 1104 c.1035A>G c.(1033-1035)ccA>ccG p.P345P LONRF1_ENST00000533751.1_5'UTR|LONRF1_ENST00000530693.1_5'UTR NM_152271.3 NP_689484.3 Q17RB8 LONF1_HUMAN LON peptidase N-terminal domain and ring finger 1 345 proteolysis ATP-dependent peptidase activity|zinc ion binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(2) 19 READ - Rectum adenocarcinoma(644;0.236) TTTTAGTACATGGTAATGAAC 0.358000 7 31 0 0 1 0 0 LPHN3 23284 broad.mit.edu 37 4 62800643 62800643 + Missense_Mutation SNP C C T TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr4:62800643C>T ENST00000512091.1 + 13 2741 c.1994C>T c.(1993-1995)gCg>gTg p.A665V LPHN3_ENST00000508946.1_Missense_Mutation_p.A665V|LPHN3_ENST00000506746.1_Missense_Mutation_p.A733V|LPHN3_ENST00000504896.1_Missense_Mutation_p.A665V|LPHN3_ENST00000509896.1_Missense_Mutation_p.A733V|LPHN3_ENST00000508078.1_3'UTR|LPHN3_ENST00000545650.1_Missense_Mutation_p.A665V|LPHN3_ENST00000507625.1_Missense_Mutation_p.A733V|LPHN3_ENST00000514996.1_Missense_Mutation_p.A665V|LPHN3_ENST00000514591.1_Missense_Mutation_p.A665V|LPHN3_ENST00000508693.1_Missense_Mutation_p.A733V|LPHN3_ENST00000514157.1_Missense_Mutation_p.A665V|LPHN3_ENST00000506720.1_Missense_Mutation_p.A733V|LPHN3_ENST00000507164.1_Missense_Mutation_p.A733V|LPHN3_ENST00000506700.1_Missense_Mutation_p.A665V|LPHN3_ENST00000511324.1_Missense_Mutation_p.A733V Q9HAR2 LPHN3_HUMAN latrophilin 3 652 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|sugar binding p.A665V(1) breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1) 125 CAGCTGCGTGCGGCCACCATG 0.463000 4 26 0 0 1 0 0 ZNF500 26048 broad.mit.edu 37 16 4815785 4815785 + Silent SNP C C G TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr16:4815785C>G ENST00000219478.6 - 2 494 c.195G>C c.(193-195)cgG>cgC p.R65R ZNF500_ENST00000545009.1_Silent_p.R65R O60304 ZN500_HUMAN zinc finger protein 500 65 SCAN box. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 21 TCAGGGCCTCCCGGGGCCCAG 0.687000 9 36 0 0 1 0 0 MYH7B 57644 broad.mit.edu 37 20 33580975 33580975 + Missense_Mutation SNP C C A TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr20:33580975C>A ENST00000262873.7 + 23 2472 c.2380C>A c.(2380-2382)Ctg>Atg p.L794M NM_020884.3 NP_065935.2 A7E2Y1 MYH7B_HUMAN myosin, heavy chain 7B, cardiac muscle, beta 752 IQ. membrane|myosin filament actin binding|ATP binding|motor activity NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3) 54 BRCA - Breast invasive adenocarcinoma(18;0.00691) CACAGAGAAACTGCTGGGCTC 0.607000 6 73 0.00116845 0.00124216 1 1 0 THPO 7066 broad.mit.edu 37 3 184090559 184090559 + Missense_Mutation SNP G G T TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr3:184090559G>T ENST00000421442.2 - 6 687 c.688C>A c.(688-690)Cct>Act p.P230T EIF2B5_ENST00000444495.1_Intron|THPO_ENST00000445696.2_Silent_p.T264T|THPO_ENST00000204615.7_Silent_p.T268T P40225 TPO_HUMAN thrombopoietin 0 cell proliferation|platelet activation extracellular space cytokine activity|growth factor activity|hormone activity NS(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1) 16 all_cancers(143;6.33e-11)|Ovarian(172;0.0339) Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) GGGCTCCTAGGGTCCTGCGTG 0.562000 14 189 0.000422831 0.000458919 1 1 0 SLC27A6 28965 broad.mit.edu 37 5 128351749 128351749 + Missense_Mutation SNP G G T TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr5:128351749G>T ENST00000262462.4 + 5 2151 c.1141G>T c.(1141-1143)Ggg>Tgg p.G381W SLC27A6_ENST00000506176.1_Missense_Mutation_p.G381W|SLC27A6_ENST00000395266.1_Missense_Mutation_p.G381W Q9Y2P4 S27A6_HUMAN solute carrier family 27 (fatty acid transporter), member 6 381 long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process integral to membrane|sarcolemma fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1) 44 all_cancers(142;0.0483)|Prostate(80;0.055) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186) TGGAGCAATTGGGAGAACAAA 0.373000 19 94 2.89027e-11 3.81221e-11 1 1 0 PRKDC 5591 broad.mit.edu 37 8 48790311 48790311 + Missense_Mutation SNP T T G TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr8:48790311T>G ENST00000314191.2 - 41 5390 c.5334A>C c.(5332-5334)caA>caC p.Q1778H PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Missense_Mutation_p.Q1778H NM_006904.6 NP_008835.5 P78527 PRKDC_HUMAN protein kinase, DNA-activated, catalytic polypeptide 1779 cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7) 147 all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391) TGAAACTGGATTGAAATAATT 0.418000 Non-homologous end-joining 15 105 0 0 1 0 0 GJB5 2709 broad.mit.edu 37 1 35223067 35223067 + Missense_Mutation SNP G G C TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr1:35223067G>C ENST00000338513.1 + 2 309 c.136G>C c.(136-138)Gat>Cat p.D46H NM_005268.3 NP_005259.1 O95377 CXB5_HUMAN gap junction protein, beta 5, 31.1kDa 46 cell communication|epidermis development connexon complex|integral to membrane endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|stomach(1) 10 Myeloproliferative disorder(586;0.0393) TGTGTGGAGTGATGACCACAA 0.587000 9 56 0 0 1 0 0 POMK 84197 broad.mit.edu 37 8 42977912 42977912 + Silent SNP C C T TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr8:42977912C>T ENST00000331373.5 + 5 1200 c.945C>T c.(943-945)agC>agT p.S315S NM_001277971.1|NM_032237.3 NP_001264900.1|NP_115613.1 Q9H5K3 SG196_HUMAN 315 Protein kinase. integral to membrane ATP binding|protein kinase activity CATGCAAGAGCCAGACTCCCT 0.483000 26 66 0 0 1 0 0 SRCIN1 80725 broad.mit.edu 37 17 36714552 36714552 + Missense_Mutation SNP C C A TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr17:36714552C>A ENST00000264659.7 - 11 2336 c.2112G>T c.(2110-2112)caG>caT p.Q704H SRCIN1_ENST00000578925.1_Missense_Mutation_p.Q738H|SRCIN1_ENST00000398579.4_5'UTR NM_025248.2 NP_079524.2 Q9C0H9 SRCN1_HUMAN SRC kinase signaling inhibitor 1 576 exocytosis|negative regulation of protein tyrosine kinase activity|positive regulation of protein tyrosine kinase activity|regulation of cell migration|regulation of dendritic spine morphogenesis|substrate adhesion-dependent cell spreading actin cytoskeleton|axon|cell junction|cytoplasm|dendrite|postsynaptic density|postsynaptic membrane protein kinase binding endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1) 19 GCGGGTCCTCCTGCCGCCGCG 0.677000 OREG0024362 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 14 44 0.000308642 0.000336066 1 1 0 MDM1 56890 broad.mit.edu 37 12 68715335 68715335 + Missense_Mutation SNP T T A TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr12:68715335T>A ENST00000303145.7 - 6 961 c.875A>T c.(874-876)aAg>aTg p.K292M MDM1_ENST00000411698.2_Missense_Mutation_p.K247M|MDM1_ENST00000540418.1_Missense_Mutation_p.K12M NM_017440.4 NP_059136.2 Q8TC05 MDM1_HUMAN Mdm1 nuclear protein homolog (mouse) 292 nucleus breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(7) 33 Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018) GBM - Glioblastoma multiforme(7;0.000174) AGGAGTAAGCTTCCTTTTAGG 0.299000 5 22 0 0 1 0 0 PSG9 5678 broad.mit.edu 37 19 43773548 43773548 + Silent SNP G G A TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr19:43773548G>A ENST00000244293.7 - 1 102 c.36C>T c.(34-36)cgC>cgT p.R12R PSG9_ENST00000443718.3_Silent_p.R12R|PSG9_ENST00000418820.2_Silent_p.R12R|PSG9_ENST00000596730.1_Silent_p.R12R|PSG9_ENST00000270077.3_Silent_p.R12R|PSG9_ENST00000291752.5_Silent_p.R12R|PSG9_ENST00000593948.1_Silent_p.R12R Q00887 PSG9_HUMAN pregnancy specific beta-1-glycoprotein 9 12 female pregnancy extracellular region central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 41 Prostate(69;0.00682) TCCAGGTGATGCGCTGTGTGC 0.617000 42 142 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179638667 179638667 + Missense_Mutation SNP G G C TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr2:179638667G>C ENST00000589042.1 - 31 7452 c.7228C>G c.(7228-7230)Cat>Gat p.H2410D TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.H2364D|TTN_ENST00000359218.5_Missense_Mutation_p.H2364D|TTN_ENST00000342992.6_Missense_Mutation_p.H2410D|TTN_ENST00000342175.6_Missense_Mutation_p.H2364D|TTN_ENST00000360870.5_Missense_Mutation_p.H2410D|TTN-AS1_ENST00000584485.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.H2410D NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 2133 Ig-like 13. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.H2364D(3)|p.H2410D(3) 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) AGCAGCATATGAGATTGTTTG 0.478000 7 102 0 0 1 0 0 SGTB 54557 broad.mit.edu 37 5 65000188 65000188 + Missense_Mutation SNP C C T TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr5:65000188C>T ENST00000381007.4 - 5 527 c.292G>A c.(292-294)Gaa>Aaa p.E98K NM_019072.2 NP_061945.1 Q96EQ0 SGTB_HUMAN small glutamine-rich tetratricopeptide repeat (TPR)-containing, beta 98 binding large_intestine(3)|lung(3)|skin(3) 9 Lung NSC(167;3.24e-06)|Prostate(74;0.0138)|Ovarian(174;0.0545)|Breast(144;0.174)|Colorectal(97;0.234) UCEC - Uterine corpus endometrioid carcinoma (4;0.0657)|Lung(70;0.00487) TAATTTTCTTCTTTCATGTGG 0.323000 4 38 0 0 1 0 0 DCLRE1C 64421 broad.mit.edu 37 10 14976702 14976702 + Splice_Site SNP C C A TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr10:14976702C>A ENST00000453695.2 - 7 621 c.177_splice c.e7+1 p.R59_splice DCLRE1C_ENST00000396817.2_Splice_Site_p.R59_splice|DCLRE1C_ENST00000357717.2_Splice_Site_p.R64_splice|DCLRE1C_ENST00000378254.1_Splice_Site_p.R59_splice|DCLRE1C_ENST00000378246.2_Splice_Site_p.R64_splice|DCLRE1C_ENST00000378289.4_Splice_Site_p.R179_splice|DCLRE1C_ENST00000378278.2_Splice_Site_p.R179_splice|DCLRE1C_ENST00000378249.1_Splice_Site_p.R64_splice|DCLRE1C_ENST00000378258.1_Splice_Site_p.R59_splice|DCLRE1C_ENST00000378255.1_Splice_Site_p.R59_splice NM_001033855.1 NP_001029027.1 Q96SD1 DCR1C_HUMAN DNA cross-link repair 1C 179 DNA recombination nucleus 5'-3' exonuclease activity|single-stranded DNA specific endodeoxyribonuclease activity breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1) 17 GCAGACTTACCCGACTTGGAA 0.423000 Non-homologous end-joining 24 120 2.14196e-07 2.61063e-07 1 1 0 SCUBE1 80274 broad.mit.edu 37 22 43603584 43603584 + Missense_Mutation SNP C C T TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr22:43603584C>T ENST00000360835.3 - 21 2896 c.2770G>A c.(2770-2772)Gat>Aat p.D924N NM_173050.3 NP_766638.2 Q8IWY4 SCUB1_HUMAN signal peptide, CUB domain, EGF-like 1 924 adult heart development|blood coagulation|endothelial cell differentiation|inflammatory response|post-embryonic development|protein homooligomerization external side of plasma membrane|extracellular space|extrinsic to plasma membrane calcium ion binding|identical protein binding|protein heterodimerization activity autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 all_neural(38;0.0414)|Ovarian(80;0.07) AGGCGCCCATCGCGCACGATG 0.582000 7 55 0 0 1 0 0 ZFYVE9 9372 broad.mit.edu 37 1 52798536 52798536 + Missense_Mutation SNP G G A TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr1:52798536G>A ENST00000287727.3 + 14 3707 c.3535G>A c.(3535-3537)Gat>Aat p.D1179N ZFYVE9_ENST00000371591.1_Missense_Mutation_p.D1179N|ZFYVE9_ENST00000469134.1_3'UTR|ZFYVE9_ENST00000357206.2_Missense_Mutation_p.D1120N NM_004799.2 NP_004790.2 O95405 ZFYV9_HUMAN zinc finger, FYVE domain containing 9 1179 endocytosis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway early endosome membrane metal ion binding|protein binding|receptor activity|serine-type peptidase activity breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6) 53 TGTACAGAATGATGATGGAAA 0.428000 5 41 0 0 1 0 0 KIAA1429 25962 broad.mit.edu 37 8 95539200 95539200 + Missense_Mutation SNP T T A TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr8:95539200T>A ENST00000297591.5 - 8 1347 c.1272A>T c.(1270-1272)aaA>aaT p.K424N KIAA1429_ENST00000437199.1_Missense_Mutation_p.K424N|KIAA1429_ENST00000421249.2_Missense_Mutation_p.K424N NM_015496.4 NP_056311.2 Q69YN4 VIR_HUMAN KIAA1429 424 mRNA processing|RNA splicing nucleus NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 66 Breast(36;3.29e-05) BRCA - Breast invasive adenocarcinoma(8;0.00185) GGGAGTCTTGTTTTGTGTTTT 0.383000 7 76 0 0 1 0 0 C16orf11 146325 broad.mit.edu 37 16 614005 614005 + Silent SNP C C A TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr16:614005C>A ENST00000409413.3 + 2 990 c.711C>A c.(709-711)gcC>gcA p.A237A NM_145270.2 NP_660313.1 P0CG20 CP011_HUMAN chromosome 16 open reading frame 11 237 Pro-rich. central_nervous_system(1)|endometrium(1)|lung(5)|ovary(1)|skin(1)|urinary_tract(1) 10 CCTTCCTGGCCTCGGCCAGCC 0.726000 3 14 0.115264 0.116649 1 1 0 SI 6476 broad.mit.edu 37 3 164737533 164737533 + Missense_Mutation SNP C C A TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr3:164737533C>A ENST00000264382.3 - 28 3342 c.3280G>T c.(3280-3282)Gct>Tct p.A1094S NM_001041.3 NP_001032.2 P14410 SUIS_HUMAN sucrase-isomaltase (alpha-glucosidase) 1094 Sucrase. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|brush border|Golgi apparatus|integral to membrane carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1) 218 Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199) Acarbose(DB00284) TCATTAAAAGCAAATCCAGGC 0.358000 HNSCC(35;0.089) 11 39 1.08611e-07 1.32856e-07 1 1 0 C1RL 51279 broad.mit.edu 37 12 7249480 7249480 + Missense_Mutation SNP A A T TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr12:7249480A>T ENST00000266542.4 - 6 1063 c.971T>A c.(970-972)gTg>gAg p.V324E C1RL_ENST00000504702.2_Intron|C1RL_ENST00000545280.1_Intron|C1RL_ENST00000544702.1_3'UTR NM_016546.2 NP_057630.2 Q9NZP8 C1RL_HUMAN complement component 1, r subcomponent-like 324 Peptidase S1. complement activation, classical pathway|innate immune response|proteolysis serine-type endopeptidase activity breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 GTCGGGGTGCACAACGACACG 0.577000 7 86 0 0 1 0 0 NLRP14 338323 broad.mit.edu 37 11 7064498 7064498 + Missense_Mutation SNP G G T TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr11:7064498G>T ENST00000299481.4 + 4 1587 c.1241G>T c.(1240-1242)gGc>gTc p.G414V NM_176822.3 NP_789792.1 Q86W24 NAL14_HUMAN NLR family, pyrin domain containing 14 414 NACHT. cell differentiation|multicellular organismal development|spermatogenesis ATP binding breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 21 Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871) GTAGATGGAGGCTCTCCTAGT 0.468000 22 142 1.50039e-11 1.99068e-11 1 1 0 SPTBN2 6712 broad.mit.edu 37 11 66453366 66453366 + Silent SNP G G A TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr11:66453366G>A ENST00000533211.1 - 38 7480 c.7149C>T c.(7147-7149)ttC>ttT p.F2383F SPTBN2_ENST00000529997.1_3'UTR|SPTBN2_ENST00000309996.2_Silent_p.F2383F O15020 SPTN2_HUMAN spectrin, beta, non-erythrocytic 2 2383 actin filament capping|axon guidance|cell death|vesicle-mediated transport cytosol|spectrin actin binding|structural constituent of cytoskeleton autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 74 TAAAGAAGCTGAAGCGTTTTT 0.612000 36 112 0 0 1 0 0 C1orf110 339512 broad.mit.edu 37 1 162824951 162824951 + Silent SNP G G C TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr1:162824951G>C ENST00000367912.1 - 4 684 c.510C>G c.(508-510)ccC>ccG p.P170P C1orf110_ENST00000367911.2_Silent_p.P166P|C1orf110_ENST00000367910.1_Silent_p.P171P|C1orf110_ENST00000524691.1_Intron Q86UF4 CA110_HUMAN chromosome 1 open reading frame 110 171 endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2) 12 TGCCCTTGCTGGGGTCTACGT 0.468000 22 145 0 0 1 0 0 C17orf75 64149 broad.mit.edu 37 17 30668304 30668304 + Splice_Site SNP C C A TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr17:30668304C>A ENST00000577809.1 - 2 190 c.e2-1 C17orf75_ENST00000225805.4_Splice_Site|RP11-227G15.3_ENST00000581915.1_RNA NM_022344.3 NP_071739.2 Q9HAS0 NJMU_HUMAN chromosome 17 open reading frame 75 spermatogenesis ovary(1) 1 Breast(31;0.116)|Ovarian(249;0.182) BRCA - Breast invasive adenocarcinoma(9;0.239) CTGTGCCAATCTACAAGCCAC 0.478000 8 80 4.68919e-08 5.78849e-08 1 1 0 C16orf46 123775 broad.mit.edu 37 16 81095499 81095499 + Missense_Mutation SNP A A C TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr16:81095499A>C ENST00000378611.4 - 3 570 c.455T>G c.(454-456)tTt>tGt p.F152C RP11-303E16.8_ENST00000564536.1_RNA|C16orf46_ENST00000444657.3_5'UTR|C16orf46_ENST00000299578.5_Missense_Mutation_p.F152C NM_001100873.1 NP_001094343.1 Q6P387 CP046_HUMAN chromosome 16 open reading frame 46 152 NS(1)|endometrium(2)|large_intestine(3)|lung(9)|prostate(1)|stomach(1)|urinary_tract(1) 18 GTAGGTGGGAAAGCAGATGTC 0.567000 28 234 0 0 1 0 0 TMEM161B 153396 broad.mit.edu 37 5 87492307 87492307 + Splice_Site SNP T T A TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr5:87492307T>A ENST00000296595.6 - 12 1311 c.e12-2 TMEM161B_ENST00000514135.1_Splice_Site|TMEM161B_ENST00000506536.1_Splice_Site|TMEM161B_ENST00000512429.1_Splice_Site|TMEM161B_ENST00000511218.1_Splice_Site|TMEM161B_ENST00000515293.1_Splice_Site NM_153354.3 NP_699185.1 Q8NDZ6 T161B_HUMAN transmembrane protein 161B integral to membrane endometrium(4)|large_intestine(3)|lung(9)|skin(3)|upper_aerodigestive_tract(1) 20 all_cancers(142;0.000275)|Lung NSC(167;0.00901)|all_lung(232;0.0111)|Colorectal(57;0.0959)|Ovarian(174;0.1) OV - Ovarian serous cystadenocarcinoma(54;6.24e-36)|Epithelial(54;6.8e-31)|all cancers(79;1.07e-26) AATGATTACCTAGAAAATCAA 0.299000 7 33 0 0 1 0 0 TMPRSS6 164656 broad.mit.edu 37 22 37465272 37465272 + Missense_Mutation SNP C C T TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr22:37465272C>T ENST00000381792.2 - 16 2094 c.1954G>A c.(1954-1956)Gaa>Aaa p.E652K TMPRSS6_ENST00000406856.1_Missense_Mutation_p.E652K|TMPRSS6_ENST00000406725.1_Missense_Mutation_p.E652K|TMPRSS6_ENST00000346753.3_Missense_Mutation_p.E661K Q8IU80 TMPS6_HUMAN transmembrane protease, serine 6 661 Peptidase S1. angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis integral to membrane|intracellular|plasma membrane serine-type endopeptidase activity breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3) 40 CTGTCCTCTTCGTGGTACGGG 0.692000 3 17 0 0 1 0 0 BRD4 23476 broad.mit.edu 37 19 15367042 15367042 + Silent SNP G G C TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr19:15367042G>C ENST00000263377.2 - 9 1805 c.1584C>G c.(1582-1584)ctC>ctG p.L528L BRD4_ENST00000371835.4_Silent_p.L528L|BRD4_ENST00000360016.5_Silent_p.L528L|BRD4_ENST00000602230.1_5'UTR NM_058243.2 NP_490597.1 O60885 BRD4_HUMAN bromodomain containing 4 528 interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle condensed nuclear chromosome|cytoplasm protein binding breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1) 21 OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18) GGGGCTGAGAGAGGGCTGCAA 0.483000 T C15orf55 lethal midline carcinoma of young people 19 105 0 0 1 0 0 AGAP1 116987 broad.mit.edu 37 2 236877218 236877218 + Silent SNP G G A TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr2:236877218G>A ENST00000409538.1 + 12 2728 c.2232G>A c.(2230-2232)aaG>aaA p.K744K AGAP1_ENST00000304032.7_Silent_p.K532K|AGAP1_ENST00000428334.2_Silent_p.K371K|AGAP1_ENST00000336665.5_Silent_p.K479K Q9UPQ3 AGAP1_HUMAN ArfGAP with GTPase domain, ankyrin repeat and PH domain 1 532 protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction cytoplasm ARF GTPase activator activity|GTP binding|zinc ion binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 41 ACCGAAGGAAGAAAAGCACTA 0.607000 12 59 0 0 1 0 0 NFATC3 4775 broad.mit.edu 37 16 68224927 68224927 + Silent SNP T T A TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr16:68224927T>A ENST00000349223.5 + 9 2579 c.2355T>A c.(2353-2355)atT>atA p.I785I NFATC3_ENST00000575270.1_Silent_p.I785I|NFATC3_ENST00000535127.2_3'UTR|NFATC3_ENST00000346183.3_Silent_p.I785I|NFATC3_ENST00000329524.4_Silent_p.I785I NM_173163.2 NP_775186.1 Q12968 NFAC3_HUMAN nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 3 785 inflammatory response|transcription from RNA polymerase II promoter nucleolus|plasma membrane DNA binding NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2) 44 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0452)|all cancers(182;0.24) CTTCTCCAATTGTACACCAGC 0.443000 28 114 0 0 1 0 0 SUCLG1 8802 broad.mit.edu 37 2 84658657 84658657 + Missense_Mutation SNP G G A TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr2:84658657G>A ENST00000393868.2 - 7 1010 c.800C>T c.(799-801)gCa>gTa p.A267V SUCLG1_ENST00000491123.1_5'UTR NM_003849.3 NP_003840.2 P53597 SUCA_HUMAN succinate-CoA ligase, alpha subunit 267 tricarboxylic acid cycle ATP citrate synthase activity|GTP binding|succinate-CoA ligase (GDP-forming) activity kidney(4)|large_intestine(4)|lung(2) 10 Succinic acid(DB00139) CAAAAATTCTGCAGCATTCTC 0.343000 5 70 0 0 1 0 0 TNKS2 80351 broad.mit.edu 37 10 93600441 93600441 + Missense_Mutation SNP G G A TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr10:93600441G>A ENST00000371627.4 + 14 2030 c.1651G>A c.(1651-1653)Gat>Aat p.D551N NM_025235.3 NP_079511.1 Q9H2K2 TNKS2_HUMAN tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 2 551 positive regulation of canonical Wnt receptor signaling pathway|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein polyubiquitination|Wnt receptor signaling pathway Golgi membrane|microsome|nuclear envelope|pericentriolar material|perinuclear region of cytoplasm NAD+ ADP-ribosyltransferase activity|protein binding biliary_tract(1)|breast(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1) 48 Colorectal(252;0.162) GCATGGAGCTGATGTGCATGC 0.413000 14 139 0 0 1 0 0 KCNN4 3783 broad.mit.edu 37 19 44273706 44273706 + Missense_Mutation SNP C C G TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr19:44273706C>G ENST00000262888.3 - 6 1332 c.937G>C c.(937-939)Gag>Cag p.E313Q NM_002250.2 NP_002241.1 O15554 KCNN4_HUMAN potassium intermediate/small conductance calcium-activated channel, subfamily N, member 4 313 Calmodulin-binding. defense response voltage-gated potassium channel complex calcium-activated potassium channel activity|calmodulin binding biliary_tract(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 15 Prostate(69;0.0352) Clotrimazole(DB00257)|Halothane(DB01159)|Quinine(DB00468) GCAGCGGACTCCTTCATCTGG 0.597000 13 120 0 0 1 0 0 HECTD4 283450 broad.mit.edu 37 12 112622471 112622471 + Silent SNP G G A TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr12:112622471G>A ENST00000550722.1 - 61 10256 c.9861C>T c.(9859-9861)taC>taT p.Y3287Y HECTD4_ENST00000377560.5_Silent_p.Y3261Y|HECTD4_ENST00000430131.2_Silent_p.Y3011Y NM_001109662.3 NP_001103132.3 HECT domain containing E3 ubiquitin protein ligase 4 GCAGCGGGATGTAGATCTCGT 0.627000 24 121 0 0 1 0 0 LAMB1 3912 broad.mit.edu 37 7 107626474 107626474 + Missense_Mutation SNP C C A TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr7:107626474C>A ENST00000393561.1 - 5 925 c.741G>T c.(739-741)agG>agT p.R247S LAMB1_ENST00000393560.1_Missense_Mutation_p.R223S|LAMB1_ENST00000222399.6_Missense_Mutation_p.R223S P07942 LAMB1_HUMAN laminin, beta 1 223 Laminin N-terminal. axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm extracellular matrix structural constituent NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3) 82 Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) TACTCTGTATCCTTGGGCTAT 0.338000 4 42 0.150653 0.151779 1 1 0 PAOX 196743 broad.mit.edu 37 10 135204976 135204976 + Silent SNP C C G TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr10:135204976C>G ENST00000357296.3 + 6 1451 c.1395C>G c.(1393-1395)ctC>ctG p.L465L PAOX_ENST00000278060.5_3'UTR|PAOX_ENST00000480071.2_3'UTR|PAOX_ENST00000368535.2_3'UTR|PAOX_ENST00000368539.4_3'UTR|RP11-108K14.8_ENST00000468317.2_Intron NM_207128.1 NP_997011.1 Q6QHF9 PAOX_HUMAN polyamine oxidase (exo-N4-amino) 0 polyamine biosynthetic process|xenobiotic metabolic process peroxisomal matrix polyamine oxidase activity cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|urinary_tract(2) 23 all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203) all cancers(32;4.39e-07)|OV - Ovarian serous cystadenocarcinoma(35;1.21e-06)|Epithelial(32;1.94e-06) CCAGCCTACTCTGTTCCACCC 0.607000 6 63 0 0 1 0 0 EXTL3 2137 broad.mit.edu 37 8 28575267 28575267 + Missense_Mutation SNP A A G TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr8:28575267A>G ENST00000220562.4 + 3 2593 c.1691A>G c.(1690-1692)gAc>gGc p.D564G EXTL3_ENST00000519886.1_Intron|EXTL3_ENST00000523149.1_Missense_Mutation_p.D180G NM_001440.2 NP_001431.1 O43909 EXTL3_HUMAN exostosin-like glycosyltransferase 3 564 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) GCTGGAACTGACCCCAACATG 0.627000 7 57 0 0 1 0 0 BCL6 604 broad.mit.edu 37 3 187440305 187440305 + Missense_Mutation SNP T T C TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr3:187440305T>C ENST00000406870.2 - 10 2428 c.2062A>G c.(2062-2064)Aag>Gag p.K688E RP11-211G3.3_ENST00000437407.1_Intron|BCL6_ENST00000450123.2_Missense_Mutation_p.K632E|BCL6_ENST00000232014.4_Missense_Mutation_p.K688E|RP11-211G3.3_ENST00000449623.1_Intron NM_001706.4 NP_001697.2 P41182 BCL6_HUMAN B-cell CLL/lymphoma 6 688 negative regulation of B cell apoptosis|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|protein import into nucleus, translocation|regulation of germinal center formation|response to DNA damage stimulus nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(9)|lung(10)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 40 all_cancers(143;9.45e-12)|Ovarian(172;0.0418) OV - Ovarian serous cystadenocarcinoma(80;1.76e-18) GBM - Glioblastoma multiforme(93;0.0141) TATTGCACCTTGGTGTTGGTG 0.557000 """T, Mis""" """IG loci, ZNFN1A1, LCP1, PIM1, TFRC, CIITA, NACA, HSPCB, HSPCA, HIST1H4I, IL21R, POU2AF1, ARHH, EIF4A2, SFRS3""" """NHL, CLL""" 7 101 0 0 1 0 0 ALDH3B2 222 broad.mit.edu 37 11 67432765 67432765 + Missense_Mutation SNP G G T TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr11:67432765G>T ENST00000349015.3 - 7 1135 c.697C>A c.(697-699)Cgc>Agc p.R233S ALDH3B2_ENST00000530069.1_Missense_Mutation_p.R233S NM_000695.3 NP_000686.2 P48448 AL3B2_HUMAN aldehyde dehydrogenase 3 family, member B2 233 alcohol metabolic process|cellular aldehyde metabolic process|lipid metabolic process 3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1) 18 NADH(DB00157) CCGATGTAGCGATCGCTCTCG 0.642000 46 102 3.39706e-21 4.83041e-21 1 1 0 ATG9B 285973 broad.mit.edu 37 7 150718344 150718344 + Missense_Mutation SNP G G A TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr7:150718344G>A ENST00000444312.1 - 5 969 c.107C>T c.(106-108)gCt>gTt p.A36V ATG9B_ENST00000377974.2_Silent_p.R298R|ATG9B_ENST00000494791.1_5'UTR|ATG9B_ENST00000605938.1_Silent_p.R298R|ATG9B_ENST00000605952.1_Silent_p.R298R Q674R7 ATG9B_HUMAN autophagy related 9B 56 Pro-rich. autophagic vacuole assembly autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(4)|prostate(1) 14 all_neural(206;0.219) OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) TGCAGACTGAGCGAAGCAGTT 0.647000 14 116 0 0 1 0 0 RGAG1 57529 broad.mit.edu 37 X 109698493 109698493 + Missense_Mutation SNP C C T TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chrX:109698493C>T ENST00000465301.2 + 4 4357 c.4111C>T c.(4111-4113)Cat>Tat p.H1371Y RGAG1_ENST00000540313.1_Missense_Mutation_p.H1371Y NM_020769.2 NP_065820.1 Q8NET4 RGAG1_HUMAN retrotransposon gag domain containing 1 1371 NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 73 AGAAGGTCTTCATGATCACCT 0.483000 16 131 0 0 1 0 0 YY2 404281 broad.mit.edu 37 X 21875589 21875589 + Silent SNP C C G TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chrX:21875589C>G ENST00000429584.2 + 1 1485 c.987C>G c.(985-987)cgC>cgG p.R329R MBTPS2_ENST00000365779.2_Intron|MBTPS2_ENST00000379484.5_Intron|MBTPS2_ENST00000465888.1_3'UTR NM_206923.3 NP_996806.2 O15391 TYY2_HUMAN YY2 transcription factor 329 Mediates transcriptional repression. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|plasma membrane DNA binding|zinc ion binding breast(2)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(2) 19 TCAATTTGCGCACACACTTGC 0.532000 96 342 0 0 1 0 0 CSMD3 114788 broad.mit.edu 37 8 113318241 113318241 + Missense_Mutation SNP C C A TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr8:113318241C>A ENST00000297405.5 - 51 8310 c.8066G>T c.(8065-8067)tGt>tTt p.C2689F CSMD3_ENST00000343508.3_Missense_Mutation_p.C2649F|CSMD3_ENST00000352409.3_Missense_Mutation_p.C2619F|CSMD3_ENST00000455883.2_Missense_Mutation_p.C2585F NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 2689 Sushi 15. integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 CATACCAACACAGCGAGGGGT 0.343000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 15 100 6.72482e-11 8.81815e-11 1 1 0 MTNR1A 4543 broad.mit.edu 37 4 187455012 187455012 + Missense_Mutation SNP T T C TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr4:187455012T>C ENST00000307161.5 - 2 1085 c.884A>G c.(883-885)tAc>tGc p.Y295C RP11-215A19.2_ENST00000509111.1_Intron NM_005958.3 NP_005949.1 P48039 MTR1A_HUMAN melatonin receptor 1A 295 circadian rhythm|G-protein signaling, coupled to cyclic nucleotide second messenger|mating behavior integral to plasma membrane melatonin receptor activity breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 14 all_cancers(14;6.39e-56)|all_epithelial(14;1.48e-41)|all_lung(41;2.45e-15)|Lung NSC(41;7.26e-15)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00335)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|Renal(120;0.0183)|all_neural(102;0.202) OV - Ovarian serous cystadenocarcinoma(60;7.63e-12)|BRCA - Breast invasive adenocarcinoma(30;6.68e-07)|GBM - Glioblastoma multiforme(59;3.44e-05)|LUSC - Lung squamous cell carcinoma(40;0.000106)|STAD - Stomach adenocarcinoma(60;0.000279)|READ - Rectum adenocarcinoma(43;0.159) Melatonin(DB01065)|Ramelteon(DB00980) CAGTAGCCCGTATATAATGGC 0.507000 19 82 0 0 1 0 0 CYP2R1 120227 broad.mit.edu 37 11 14901869 14901869 + Missense_Mutation SNP C C G TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr11:14901869C>G ENST00000532378.1 - 4 968 c.114G>C c.(112-114)caG>caC p.Q38H CYP2R1_ENST00000334636.5_Missense_Mutation_p.Q271H|CYP2R1_ENST00000526489.1_5'UTR Q6VVX0 CP2R1_HUMAN cytochrome P450, family 2, subfamily R, polypeptide 1 271 hormone biosynthetic process|vitamin D metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome cholestanetriol 26-monooxygenase activity|electron carrier activity|heme binding|vitamin D3 25-hydroxylase activity p.Q271Q(1) breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 Cholecalciferol(DB00169)|Ergocalciferol(DB00153) GCTGAGGTAGCTGAGGCTTTC 0.378000 4 47 0 0 1 0 0 USH2A 7399 broad.mit.edu 37 1 216011375 216011375 + Missense_Mutation SNP G G T TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr1:216011375G>T ENST00000366943.2 - 47 9715 c.9329C>A c.(9328-9330)cCa>cAa p.P3110Q USH2A_ENST00000307340.3_Missense_Mutation_p.P3110Q O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 3110 Fibronectin type-III 18. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) TATATCACTTGGAGTGTCTTC 0.363000 HNSCC(13;0.011) 6 76 1.06961e-07 1.31315e-07 1 1 0 ADAMTS20 80070 broad.mit.edu 37 12 43825162 43825162 + Silent SNP A A G TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr12:43825162A>G ENST00000389420.3 - 22 3233 c.3234T>C c.(3232-3234)gcT>gcC p.A1078A ADAMTS20_ENST00000395541.2_Silent_p.A232A|ADAMTS20_ENST00000553158.1_Silent_p.A1078A NM_025003.3 NP_079279.3 P59510 ATS20_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 20 1078 TSP type-1 6. proteinaceous extracellular matrix zinc ion binding breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1) 95 all_cancers(12;2.6e-05)|Lung SC(27;0.184) Lung NSC(34;0.0569)|all_lung(34;0.129) GBM - Glioblastoma multiforme(48;0.0473) CTTGCCAGGAAGCACATGTAT 0.388000 8 63 0 0 1 0 0 PTPRZ1 5803 broad.mit.edu 37 7 121682711 121682711 + Missense_Mutation SNP C C A TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr7:121682711C>A ENST00000393386.2 + 22 6262 c.5851C>A c.(5851-5853)Cag>Aag p.Q1951K PTPRZ1_ENST00000449182.1_Missense_Mutation_p.Q1084K NM_001206838.1|NM_002851.2 NP_001193767.1|NP_002842.2 P23471 PTPRZ_HUMAN protein tyrosine phosphatase, receptor-type, Z polypeptide 1 1951 Tyrosine-protein phosphatase 1. central nervous system development integral to plasma membrane protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2) 106 CAGTATGTTGCAGCAGATTCA 0.333000 17 37 3.41278e-10 4.44916e-10 1 1 0 LRRC27 80313 broad.mit.edu 37 10 134174993 134174993 + Silent SNP G G A TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr10:134174993G>A ENST00000368610.3 + 8 1017 c.1017G>A c.(1015-1017)ctG>ctA p.L339L LRRC27_ENST00000392638.2_3'UTR|LRRC27_ENST00000368612.1_Silent_p.L339L|LRRC27_ENST00000475747.1_3'UTR|LRRC27_ENST00000368614.3_Silent_p.L401L|LRRC27_ENST00000368613.4_Silent_p.L401L|LRRC27_ENST00000432555.2_Silent_p.L274L Q9C0I9 LRC27_HUMAN leucine rich repeat containing 27 401 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1) 18 all_cancers(35;6.28e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19) OV - Ovarian serous cystadenocarcinoma(35;9.12e-05)|Epithelial(32;0.000116)|all cancers(32;0.000145)|BRCA - Breast invasive adenocarcinoma(275;0.218) CCACAGATCTGATAGATAACA 0.418000 12 129 0 0 1 0 0 PRKD1 5587 broad.mit.edu 37 14 30105610 30105610 + Missense_Mutation SNP T T C TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr14:30105610T>C ENST00000331968.5 - 7 1305 c.1076A>G c.(1075-1077)gAt>gGt p.D359G PRKD1_ENST00000415220.2_Missense_Mutation_p.D367G NM_002742.2 NP_002733.2 Q15139 KPCD1_HUMAN protein kinase D1 359 cell proliferation|intracellular signal transduction|sphingolipid metabolic process cytosol|integral to plasma membrane ATP binding|metal ion binding|protein binding|protein kinase C activity NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2) 78 Hepatocellular(127;0.0604) LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252) GBM - Glioblastoma multiforme(265;0.00888) TTCTTCCATATCATCCATGAG 0.502000 17 124 0 0 1 0 0 GATAD1 57798 broad.mit.edu 37 7 92085764 92085764 + Missense_Mutation SNP G G T TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr7:92085764G>T ENST00000287957.3 + 5 975 c.698G>T c.(697-699)cGg>cTg p.R233L NM_021167.4 NP_066990.3 Q8WUU5 GATD1_HUMAN GATA zinc finger domain containing 1 233 sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(1)|kidney(2)|lung(3) 6 all_cancers(62;1.63e-10)|all_epithelial(64;8.33e-10)|Breast(17;0.00311)|all_lung(186;0.0498)|Lung NSC(181;0.0676) STAD - Stomach adenocarcinoma(171;4.51e-05)|GBM - Glioblastoma multiforme(5;8.83e-05)|all cancers(6;0.000136)|Lung(22;0.123)|Epithelial(20;0.179)|LUSC - Lung squamous cell carcinoma(200;0.225) TTCAAGTCACGGTCATCACCA 0.473000 33 130 2.49991e-28 3.61576e-28 1 1 0 TCN1 6947 broad.mit.edu 37 11 59620679 59620679 + Missense_Mutation SNP G G T TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr11:59620679G>T ENST00000257264.3 - 8 1341 c.1237C>A c.(1237-1239)Caa>Aaa p.Q413K NM_001062.3 NP_001053.2 P20061 TCO1_HUMAN transcobalamin I (vitamin B12 binding protein, R binder family) 413 cobalamin metabolic process|cobalamin transport|cobalt ion transport extracellular region cobalamin binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 29 all_epithelial(135;0.198) Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) CCCTTACCTTGGCTCAGTGGT 0.522000 55 293 1.45723e-30 2.11675e-30 1 1 0 LRRC37A6P 387646 broad.mit.edu 37 10 27535600 27535600 + RNA SNP T T C rs640284 by1000genomes TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr10:27535600T>C ENST00000574842.1 + 0 255 CACAGGTCAATTGCACATGGG 0.517000 9 159 0 0 1 0 0 LOC645752 645752 broad.mit.edu 37 15 78211242 78211242 + RNA SNP C C G TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr15:78211242C>G ENST00000565869.1 + 0 111 RP11-114H24.2_ENST00000567226.1_RNA CCCACAGCCTCTTTTCCTGCT 0.572000 33 258 0 0 1 0 0 PCDHB3 56132 broad.mit.edu 37 5 140480844 140480844 + Missense_Mutation SNP A A T TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr5:140480844A>T ENST00000231130.2 + 1 611 c.611A>T c.(610-612)gAg>gTg p.E204V AC005754.7_ENST00000607216.1_RNA NM_018937.2 NP_061760.1 Q9Y5E6 PCDB3_HUMAN 204 Cadherin 2. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 72 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GATCGGGAGGAGCAGCCGGAA 0.562000 20 67 0 0 1 0 0 TRAV8-6 28680 broad.mit.edu 37 14 22446888 22446888 + RNA SNP C C T rs2075483 by1000genomes TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr14:22446888C>T ENST00000390443.3 + 0 190 CCGCCCAGCTCAAGGTCCTGC 0.532000 OREG0022573 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 119 0 0 1 0 0 ITPR1 3708 broad.mit.edu 37 3 4714902 4714902 + Missense_Mutation SNP G G A TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr3:4714902G>A ENST00000354582.6 + 21 2637 c.2287G>A c.(2287-2289)Gat>Aat p.D763N ITPR1_ENST00000456211.2_Missense_Mutation_p.D748N|ITPR1_ENST00000443694.2_Missense_Mutation_p.D748N|ITPR1_ENST00000423119.2_Missense_Mutation_p.D763N|ITPR1_ENST00000357086.4_Missense_Mutation_p.D763N|ITPR1_ENST00000302640.8_Missense_Mutation_p.D748N|ITPR1_ENST00000544951.1_Intron Q14643 ITPR1_HUMAN inositol 1,4,5-trisphosphate receptor, type 1 763 activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2) 106 Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982) GCTGGATGTCGATCTCATTCT 0.547000 7 51 0 0 1 0 0 LPHN2 23266 broad.mit.edu 37 1 82445624 82445624 + Silent SNP T T C TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr1:82445624T>C ENST00000370728.1 + 20 3726 c.3081T>C c.(3079-3081)tcT>tcC p.S1027S LPHN2_ENST00000370713.1_Silent_p.S1014S|LPHN2_ENST00000319517.6_Silent_p.S1014S|LPHN2_ENST00000370727.1_Silent_p.S1027S|LPHN2_ENST00000359929.3_Silent_p.S1014S|LPHN2_ENST00000335786.5_Silent_p.S1027S|LPHN2_ENST00000370717.2_Silent_p.S1027S|LPHN2_ENST00000370715.1_Silent_p.S1014S|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000271029.4_Silent_p.S1027S|LPHN2_ENST00000370721.1_Silent_p.S952S|LPHN2_ENST00000394879.1_Silent_p.S1014S|LPHN2_ENST00000370723.1_Silent_p.S1014S|LPHN2_ENST00000370730.1_Silent_p.S1027S|LPHN2_ENST00000370725.1_Silent_p.S1027S O95490 LPHN2_HUMAN latrophilin 2 1027 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 119 all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248) AACCAGATTCTAGCAGGTTGG 0.318000 5 34 0 0 1 0 0 OR2A14 135941 broad.mit.edu 37 7 143826671 143826671 + Missense_Mutation SNP C C A TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr7:143826671C>A ENST00000408899.2 + 1 521 c.466C>A c.(466-468)Ctg>Atg p.L156M NM_001001659.1 NP_001001659.1 Q96R47 O2A14_HUMAN olfactory receptor, family 2, subfamily A, member 14 156 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(4)|lung(17)|skin(1) 22 Melanoma(164;0.0783) CCTCCTGGCTCTGGTCCCTTT 0.547000 111 365 1.09008e-60 1.59374e-60 1 1 0 DLG2 1740 broad.mit.edu 37 11 84634151 84634151 + Silent SNP T T A TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr11:84634151T>A ENST00000398309.2 - 1 482 c.12A>T c.(10-12)gcA>gcT p.A4A DLG2_ENST00000376104.2_Intron|DLG2_ENST00000543673.1_Intron|DLG2_ENST00000532653.1_Silent_p.A4A|DLG2_ENST00000524982.1_Silent_p.A4A NM_001364.3 NP_001355.2 Q15700 DLG2_HUMAN discs, large homolog 2 (Drosophila) 4 cell junction|postsynaptic density|postsynaptic membrane guanylate kinase activity|protein binding breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 71 all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036) CACAGTAACATGCAAAGAACA 0.488000 12 36 0 0 1 0 0 GRIN3B 116444 broad.mit.edu 37 19 1005278 1005278 + Missense_Mutation SNP C C A TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr19:1005278C>A ENST00000234389.3 + 3 1797 c.1778C>A c.(1777-1779)aCc>aAc p.T593N GRIN3B_ENST00000588335.1_3'UTR NM_138690.1 NP_619635.1 O60391 NMD3B_HUMAN glutamate receptor, ionotropic, N-methyl-D-aspartate 3B 593 ionotropic glutamate receptor signaling pathway|protein insertion into membrane|regulation of calcium ion transport cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|glycine binding|ionotropic glutamate receptor activity|neurotransmitter receptor activity breast(1)|kidney(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1) 11 Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000226)|all_lung(49;0.000353)|Breast(49;0.00066) 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) Glycine(DB00145)|L-Glutamic Acid(DB00142)|Orphenadrine(DB01173) CTCTTCCTCACCGTGTACGAG 0.662000 21 70 3.51602e-12 4.73013e-12 1 1 0 FOXP1 27086 broad.mit.edu 37 3 71021828 71021828 + Splice_Site SNP C C G TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr3:71021828C>G ENST00000318789.4 - 18 2056 c.e18-1 FOXP1_ENST00000491238.1_Splice_Site|FOXP1_ENST00000493089.1_Splice_Site|FOXP1_ENST00000468577.1_Intron|FOXP1_ENST00000475937.1_Splice_Site|FOXP1_ENST00000498215.1_Splice_Site|FOXP1_ENST00000484350.1_Splice_Site NM_001244810.1|NM_001244813.1|NM_032682.5 NP_001231739.1|NP_001231742.1|NP_116071.2 Q9H334 FOXP1_HUMAN forkhead box P1 cardiac muscle cell differentiation|embryo development|immunoglobulin V(D)J recombination|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of immunoglobulin production|positive regulation of mesenchymal cell proliferation|pre-B cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|skeletal muscle tissue development|smooth muscle tissue development cytoplasm|transcription factor complex chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|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|zinc ion binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 31 Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209) BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05) GCACTGCATTCTGCAGCAAGT 0.368000 T PAX5 ALL 5 35 0 0 1 0 0 ANKRD50 57182 broad.mit.edu 37 4 125592017 125592017 + Silent SNP T T G TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr4:125592017T>G ENST00000504087.1 - 4 3452 c.2415A>C c.(2413-2415)gcA>gcC p.A805A ANKRD50_ENST00000515641.1_Silent_p.A626A NM_020337.2 NP_065070.1 Q9ULJ7 ANR50_HUMAN ankyrin repeat domain 50 805 NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1) 55 TATCCACAGCTGCACCCCAAA 0.453000 15 64 0 0 1 0 0 FERMT3 83706 broad.mit.edu 37 11 63987469 63987469 + Nonsense_Mutation SNP C C T TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr11:63987469C>T ENST00000279227.5 + 10 1293 c.1198C>T c.(1198-1200)Cag>Tag p.Q400* FERMT3_ENST00000345728.5_Nonsense_Mutation_p.Q396* NM_178443.2 NP_848537.1 Q86UX7 URP2_HUMAN fermitin family member 3 400 FERM.|PH. integrin activation|leukocyte cell-cell adhesion|platelet aggregation|regulation of cell-cell adhesion mediated by integrin cell junction|cell projection|podosome integrin binding breast(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 18 GGACCCCATTCAGCAGCTCAA 0.617000 9 76 0 0 1 0 0 LOXL1 4016 broad.mit.edu 37 15 74219613 74219613 + Missense_Mutation SNP C C G TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr15:74219613C>G ENST00000261921.7 + 1 815 c.489C>G c.(487-489)ttC>ttG p.F163L LOXL1-AS1_ENST00000568087.1_RNA|LOXL1-AS1_ENST00000562739.1_RNA|LOXL1-AS1_ENST00000562965.1_RNA|LOXL1-AS1_ENST00000567257.1_RNA|LOXL1-AS1_ENST00000566675.1_RNA|LOXL1-AS1_ENST00000565756.1_RNA|LOXL1-AS1_ENST00000565416.1_RNA|LOXL1-AS1_ENST00000564963.1_RNA|LOXL1-AS1_ENST00000564194.1_RNA NM_005576.2 NP_005567.2 Q08397 LOXL1_HUMAN lysyl oxidase-like 1 163 protein deamination extracellular space copper ion binding NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 10 CTTCGGCCTTCGCCAGCACCT 0.721000 15 98 0 0 1 0 0 OR8K1 390157 broad.mit.edu 37 11 56114279 56114279 + Missense_Mutation SNP C C G TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr11:56114279C>G ENST00000279783.2 + 1 859 c.765C>G c.(763-765)atC>atG p.I255M NM_001002907.1 NP_001002907.1 Q8NGG5 OR8K1_HUMAN olfactory receptor, family 8, subfamily K, member 1 255 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(8)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 33 Esophageal squamous(21;0.00448) CAGTGGTGATCATGTTCTATG 0.403000 HNSCC(65;0.19) 7 38 0 0 1 0 0 DMD 1756 broad.mit.edu 37 X 32662398 32662398 + Silent SNP G G T TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chrX:32662398G>T ENST00000357033.4 - 11 1388 c.1182C>A c.(1180-1182)ggC>ggA p.G394G DMD_ENST00000378677.2_Silent_p.G390G|DMD_ENST00000288447.4_Silent_p.G386G NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2 NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1 P11532 DMD_HUMAN dystrophin 394 muscle filament sliding|peptide biosynthetic process cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2) 77 all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203) TACCAACCCGGCCCTGATGGG 0.383000 25 84 6.12954e-19 8.62486e-19 1 1 0 OR4S1 256148 broad.mit.edu 37 11 48328378 48328378 + Missense_Mutation SNP G G T TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr11:48328378G>T ENST00000319988.1 + 1 604 c.604G>T c.(604-606)Ggt>Tgt p.G202C NM_001004725.1 NP_001004725.1 Q8NGB4 OR4S1_HUMAN olfactory receptor, family 4, subfamily S, member 1 202 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|skin(3) 21 GGCCAACAGCGGTATGATTTC 0.458000 14 71 1.05317e-09 1.35984e-09 1 1 0 ITGAX 3687 broad.mit.edu 37 16 31371761 31371761 + Missense_Mutation SNP G G A TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr16:31371761G>A ENST00000268296.4 + 8 959 c.838G>A c.(838-840)Ggc>Agc p.G280S ITGAX_ENST00000562522.1_Missense_Mutation_p.G280S NM_000887.3 NP_000878.2 P20702 ITAX_HUMAN integrin, alpha X (complement component 3 receptor 4 subunit) 280 VWFA. blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis integrin complex protein binding|receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 77 TGATGCAGCAGGCATCATCCG 0.527000 15 74 0 0 1 0 0 ABCF2 10061 broad.mit.edu 37 7 150919703 150919703 + Splice_Site SNP C C G TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr7:150919703C>G ENST00000287844.2 - 6 832 c.e6-1 ABCF2_ENST00000222388.2_Splice_Site NM_007189.1 NP_009120.1 Q9UG63 ABCF2_HUMAN ATP-binding cassette, sub-family F (GCN20), member 2 ATP-binding cassette (ABC) transporter complex|mitochondrial envelope ATP binding|ATPase activity|transporter activity breast(1)|central_nervous_system(1)|large_intestine(4)|lung(15)|ovary(1)|skin(2) 24 OV - Ovarian serous cystadenocarcinoma(82;0.00448) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) AAAGAGGGCTCTGAAGGACGG 0.488000 5 55 0 0 1 0 0 KMT2E 55904 broad.mit.edu 37 7 104741956 104741956 + Missense_Mutation SNP G G C TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr7:104741956G>C ENST00000334877.4 + 16 2341 c.1807G>C c.(1807-1809)Gaa>Caa p.E603Q KMT2E_ENST00000311117.3_Missense_Mutation_p.E603Q|KMT2E_ENST00000334914.7_5'UTR|KMT2E_ENST00000257745.4_Missense_Mutation_p.E603Q lysine (K)-specific methyltransferase 2E ACAAGCTTTGGAAAGGATCAG 0.338000 4 45 0 0 1 0 0 NEO1 4756 broad.mit.edu 37 15 73552670 73552670 + Silent SNP C C A TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr15:73552670C>A ENST00000339362.5 + 16 2709 c.2262C>A c.(2260-2262)atC>atA p.I754I NEO1_ENST00000558964.1_Silent_p.I754I|NEO1_ENST00000560262.1_Silent_p.I754I|NEO1_ENST00000261908.6_Silent_p.I754I Q92859 NEO1_HUMAN neogenin 1 754 Fibronectin type-III 4. axon guidance|cell adhesion|positive regulation of muscle cell differentiation Golgi apparatus|integral to plasma membrane|nucleus NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2) 57 TTACTAGCATCGTAGTGAGCT 0.502000 6 63 0.00198382 0.00208921 1 1 0 ZBTB4 57659 broad.mit.edu 37 17 7369062 7369062 + Silent SNP C C T TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr17:7369062C>T ENST00000311403.4 - 3 1398 c.1059G>A c.(1057-1059)acG>acA p.T353T ZBTB4_ENST00000380599.4_Silent_p.T353T NM_020899.3 NP_065950.2 Q9P1Z0 ZBTB4_HUMAN zinc finger and BTB domain containing 4 353 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(3)|skin(6) 36 Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255) COAD - Colon adenocarcinoma(228;4.1e-06)|READ - Rectum adenocarcinoma(115;0.0642) CTTCATGCTTCGTGCGGTACT 0.612000 13 50 0 0 1 0 0 PRRT2 112476 broad.mit.edu 37 16 29825686 29825686 + Missense_Mutation SNP C C A TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr16:29825686C>A ENST00000358758.7 + 3 1195 c.912C>A c.(910-912)gaC>gaA p.D304E PRRT2_ENST00000567659.1_Missense_Mutation_p.D304E|PRRT2_ENST00000300797.6_3'UTR|AC009133.20_ENST00000569039.1_RNA NM_001256442.1|NM_001256443.1|NM_145239.2 NP_001243371.1|NP_001243372.1|NP_660282.2 Q7Z6L0 PRRT2_HUMAN proline-rich transmembrane protein 2 304 response to biotic stimulus integral to membrane central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1) 8 GGGACGTGGACGGGGCCCAGC 0.657000 14 179 2.23348e-06 2.59995e-06 1 1 0 TTLL4 9654 broad.mit.edu 37 2 219617610 219617610 + Missense_Mutation SNP G G A TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr2:219617610G>A ENST00000392102.1 + 17 3441 c.3101G>A c.(3100-3102)cGc>cAc p.R1034H TTLL4_ENST00000457313.1_Missense_Mutation_p.R869H|TTLL4_ENST00000258398.4_Missense_Mutation_p.R1034H|TTLL4_ENST00000442769.1_Missense_Mutation_p.R970H NM_014640.4 NP_055455.3 Q14679 TTLL4_HUMAN tubulin tyrosine ligase-like family, member 4 1034 protein polyglutamylation cilium|microtubule basal body ATP binding|tubulin binding|tubulin-tyrosine ligase activity endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|skin(3)|upper_aerodigestive_tract(2) 39 Renal(207;0.0915) Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101) ATCTCCTCTCGCTATCTCCGC 0.458000 23 103 0 0 1 0 0 CD177 57126 broad.mit.edu 37 19 43858530 43858530 + RNA SNP C C A TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr19:43858530C>A ENST00000378009.4 + 0 407 CD177_ENST00000378012.2_RNA|CD177_ENST00000607517.1_RNA NM_020406.2 NP_065139.2 Q8N6Q3 CD177_HUMAN CD177 molecule blood coagulation|leukocyte migration anchored to membrane|plasma membrane central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2) 5 Prostate(69;0.00682) CTTTGGGCCCCACAGCCCCCA 0.667000 17 64 1.33834e-09 1.72145e-09 1 1 0 RGAG1 57529 broad.mit.edu 37 X 109695611 109695611 + Missense_Mutation SNP C C T TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chrX:109695611C>T ENST00000465301.2 + 3 2012 c.1766C>T c.(1765-1767)tCc>tTc p.S589F RGAG1_ENST00000540313.1_Missense_Mutation_p.S589F NM_020769.2 NP_065820.1 Q8NET4 RGAG1_HUMAN retrotransposon gag domain containing 1 589 NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 73 GGATCAACATCCACGCTGTTA 0.502000 5 59 0 0 1 0 0 SLC9A2 6549 broad.mit.edu 37 2 103317655 103317655 + Silent SNP G G C TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr2:103317655G>C ENST00000233969.2 + 8 1855 c.1713G>C c.(1711-1713)ggG>ggC p.G571G SLC9A2_ENST00000469286.1_3'UTR NM_003048.3 NP_003039.2 Q9UBY0 SL9A2_HUMAN solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2 571 integral to membrane|plasma membrane sodium:hydrogen antiporter activity breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 42 CAGAGACTGGGATGATAAGTA 0.338000 8 32 0 0 1 0 0 CXorf23 256643 broad.mit.edu 37 X 19983547 19983547 + Missense_Mutation SNP C C A TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chrX:19983547C>A ENST00000379687.3 - 3 922 c.889G>T c.(889-891)Gat>Tat p.D297Y CXorf23_ENST00000356980.3_Missense_Mutation_p.D297Y|CXorf23_ENST00000379682.4_Missense_Mutation_p.D297Y NM_198279.3 NP_938020.2 A2AJT9 CX023_HUMAN chromosome X open reading frame 23 297 mitochondrion endometrium(2)|large_intestine(1)|lung(6)|skin(1)|urinary_tract(1) 11 GTTCTCCCATCAGAAAAGTCC 0.418000 6 94 3.59834e-05 4.04888e-05 1 1 0 MOSPD2 158747 broad.mit.edu 37 X 14934424 14934424 + Missense_Mutation SNP C C A TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chrX:14934424C>A ENST00000380492.3 + 13 1380 c.1292C>A c.(1291-1293)cCc>cAc p.P431H MOSPD2_ENST00000482354.1_Missense_Mutation_p.P431H|MOSPD2_ENST00000495110.1_3'UTR NM_001177475.1|NM_152581.3 NP_001170946.1|NP_689794.1 Q8NHP6 MSPD2_HUMAN motile sperm domain containing 2 431 MSP. integral to membrane structural molecule activity breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 Hepatocellular(33;0.183) AAAGAAGTTCCCAGAAACAAA 0.443000 43 141 2.77807e-22 3.97541e-22 1 1 0 MYH3 4621 broad.mit.edu 37 17 10533483 10533483 + Missense_Mutation SNP C C G TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr17:10533483C>G ENST00000583535.1 - 38 5575 c.5488G>C c.(5488-5490)Gag>Cag p.E1830Q MYH3_ENST00000226209.7_Missense_Mutation_p.E1830Q NM_002470.3 NP_002461.2 P11055 MYH3_HUMAN myosin, heavy chain 3, skeletal muscle, embryonic 1830 muscle filament sliding|muscle organ development cytosol|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 83 TTCTTCTGCTCTCCCTCAAGT 0.557000 25 236 0 0 1 0 0 LOC150776 150776 broad.mit.edu 37 2 132257830 132257830 + RNA SNP C C T rs13035779 by1000genomes TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr2:132257830C>T ENST00000438378.2 + 0 553 NR_026922.1 GCAGCCTAGACGGTGTCCTCG 0.567000 4 43 0 0 1 0 0 GOLGA3 2802 broad.mit.edu 37 12 133398680 133398680 + Missense_Mutation SNP T T A TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr12:133398680T>A ENST00000204726.3 - 2 593 c.35A>T c.(34-36)cAg>cTg p.Q12L GOLGA3_ENST00000450791.2_Missense_Mutation_p.Q12L|GOLGA3_ENST00000456883.2_Missense_Mutation_p.Q12L|GOLGA3_ENST00000537452.1_Missense_Mutation_p.Q12L|GOLGA3_ENST00000545875.1_Missense_Mutation_p.Q12L NM_005895.3 NP_005886.2 Q08378 GOGA3_HUMAN golgin A3 12 intra-Golgi vesicle-mediated transport Golgi cisterna membrane|Golgi transport complex protein binding|transporter activity breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0176)|Lung NSC(355;0.204) OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06) TCTGTCCTCCTGGAGGCCATC 0.642000 7 46 0 0 1 0 0 THNSL1 79896 broad.mit.edu 37 10 25314011 25314011 + Missense_Mutation SNP C C G TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr10:25314011C>G ENST00000524413.1 + 3 2206 c.1859C>G c.(1858-1860)tCt>tGt p.S620C THNSL1_ENST00000376356.4_Missense_Mutation_p.S620C Q8IYQ7 THNS1_HUMAN threonine synthase-like 1 (S. cerevisiae) 620 threonine biosynthetic process ATP binding|pyridoxal phosphate binding|shikimate kinase activity|threonine synthase activity NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(5)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 28 L-Threonine(DB00156)|Pyridoxal Phosphate(DB00114) GACTGGTGCTCTGAGGGAGAG 0.413000 11 75 0 0 1 0 0 EFHB 151651 broad.mit.edu 37 3 19975260 19975260 + Missense_Mutation SNP A A T TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr3:19975260A>T ENST00000295824.9 - 1 412 c.251T>A c.(250-252)aTg>aAg p.M84K EFHB_ENST00000344838.4_Intron|EFHB_ENST00000498089.1_5'UTR NM_144715.3 NP_653316.3 Q8N7U6 EFHB_HUMAN EF-hand domain family, member B 84 signal transduction proteinaceous extracellular matrix calcium ion binding breast(2)|endometrium(4)|kidney(1)|lung(17)|prostate(1)|urinary_tract(1) 26 ACCCCTCTGCATGACAGTCCT 0.438000 16 89 0 0 1 0 0 ITM2A 9452 broad.mit.edu 37 X 78618448 78618448 + Missense_Mutation SNP G G T TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chrX:78618448G>T ENST00000434584.2 - 2 636 c.300C>A c.(298-300)gaC>gaA p.D100E ITM2A_ENST00000469541.1_5'UTR|ITM2A_ENST00000373298.2_Missense_Mutation_p.D144E NM_001171581.1 NP_001165052.1 O43736 ITM2A_HUMAN integral membrane protein 2A 144 integral to membrane protein binding breast(1)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 18 CCTTTTCAAAGTCATGAATAA 0.388000 6 35 0.00198382 0.00208921 1 1 0 B3GNT4 79369 broad.mit.edu 37 12 122689187 122689187 + Missense_Mutation SNP G G C TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr12:122689187G>C ENST00000324189.4 + 2 378 c.22G>C c.(22-24)Gca>Cca p.A8P B3GNT4_ENST00000535274.1_5'UTR|B3GNT4_ENST00000546192.1_Intron|B3GNT4_ENST00000545141.1_Intron NM_030765.2 NP_110392.1 Q9C0J1 B3GN4_HUMAN UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 4 8 protein glycosylation Golgi membrane|integral to membrane galactosyltransferase activity NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 13 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000297)|Epithelial(86;0.000497)|BRCA - Breast invasive adenocarcinoma(302;0.222) CCAGCCTTCCGCAGCCCACCA 0.647000 7 73 0 0 1 0 0 OBSCN 84033 broad.mit.edu 37 1 228467143 228467143 + Missense_Mutation SNP C C T TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr1:228467143C>T ENST00000570156.2 + 32 8755 c.8681C>T c.(8680-8682)tCa>tTa p.S2894L OBSCN_ENST00000359599.6_Missense_Mutation_p.S1312L|OBSCN_ENST00000284548.11_Missense_Mutation_p.S2465L|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000422127.1_Missense_Mutation_p.S2465L NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 1894 Ig-like 28. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) CTGGTGGTCTCAGGTGAGCAC 0.682000 8 30 0 0 1 0 0 BAI3 577 broad.mit.edu 37 6 69348565 69348565 + Translation_Start_Site SNP A A T TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr6:69348565A>T ENST00000370598.1 + 0 819 NM_001704.2 NP_001695.1 O60242 BAI3_HUMAN brain-specific angiogenesis inhibitor 3 negative regulation of angiogenesis|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 210 all_lung(197;0.212) CAAATGACATAGGATGAAGGC 0.378000 12 74 0 0 1 0 0 TREM2 54209 broad.mit.edu 37 6 41129200 41129200 + Silent SNP G G A TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr6:41129200G>A ENST00000373113.3 - 2 285 c.192C>T c.(190-192)gtC>gtT p.V64V TREM2_ENST00000373122.4_Silent_p.V64V|TREM2_ENST00000338469.3_Silent_p.V64V NM_018965.2 NP_061838.1 Q9NZC2 TREM2_HUMAN triggering receptor expressed on myeloid cells 2 64 Ig-like V-type. axon guidance|humoral immune response extracellular region|integral to membrane|plasma membrane receptor activity breast(1)|endometrium(2)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1) 11 Ovarian(28;0.0418)|Colorectal(47;0.196) TGTGCGTGCTGACCACACGCT 0.622000 15 62 0 0 1 0 0 A1CF 29974 broad.mit.edu 37 10 52569743 52569743 + Missense_Mutation SNP G G C TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr10:52569743G>C ENST00000395489.2 - 14 1919 c.1523C>G c.(1522-1524)gCc>gGc p.A508G A1CF_ENST00000282641.2_Missense_Mutation_p.A515G|ASAH2B_ENST00000483649.1_Intron|A1CF_ENST00000374001.1_Missense_Mutation_p.A507G|A1CF_ENST00000373993.1_Missense_Mutation_p.A515G|A1CF_ENST00000373995.3_Missense_Mutation_p.A515G|A1CF_ENST00000373997.3_Missense_Mutation_p.A507G|A1CF_ENST00000395495.1_Missense_Mutation_p.A460G NM_001198819.1 NP_001185748.1 Q9NQ94 A1CF_HUMAN APOBEC1 complementation factor 515 cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm nucleotide binding|protein binding|single-stranded RNA binding NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3) 29 GGTGTATTCGGCTGCATACGT 0.532000 28 62 0 0 1 0 0 C7orf57 136288 broad.mit.edu 37 7 48086056 48086056 + Splice_Site SNP G G T TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr7:48086056G>T ENST00000348904.3 + 5 562 c.e5-1 C7orf57_ENST00000435376.1_Splice_Site|C7orf57_ENST00000420324.1_Splice_Site|C7orf57_ENST00000430738.1_Splice_Site|C7orf57_ENST00000539619.1_Splice_Site NM_001100159.2 NP_001093629.1 Q8NEG2 CG057_HUMAN chromosome 7 open reading frame 57 breast(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1) 9 TGTCCTTGCAGAGTGCGGGCT 0.542000 6 14 8.12818e-05 9.01052e-05 1 1 0 KIAA0226L 80183 broad.mit.edu 37 13 46936716 46936716 + Missense_Mutation SNP C C A TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr13:46936716C>A ENST00000429979.1 - 7 1547 c.943G>T c.(943-945)Gat>Tat p.D315Y KIAA0226L_ENST00000378797.2_Missense_Mutation_p.D315Y|KIAA0226L_ENST00000534925.1_Missense_Mutation_p.D180Y|KIAA0226L_ENST00000409879.2_Missense_Mutation_p.D158Y|KIAA0226L_ENST00000378787.3_Missense_Mutation_p.D315Y|KIAA0226L_ENST00000322896.6_Missense_Mutation_p.D158Y|KIAA0226L_ENST00000378784.4_Missense_Mutation_p.D248Y|KIAA0226L_ENST00000378781.3_Intron|KIAA0226L_ENST00000389908.3_Missense_Mutation_p.D315Y NM_025113.2 NP_079389.2 Q9H714 CM018_HUMAN KIAA0226-like 315 NS(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|pancreas(1) 26 TCTGTGATATCATTAAAATCT 0.418000 3 6 6.4e-05 7.15357e-05 1 1 0 C9orf142 286257 broad.mit.edu 37 9 139887562 139887562 + Silent SNP G G A TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr9:139887562G>A ENST00000371620.3 + 4 314 c.288G>A c.(286-288)ctG>ctA p.L96L C9orf142_ENST00000493968.1_3'UTR NM_183241.1 NP_899064.1 Q9BUH6 CI142_HUMAN chromosome 9 open reading frame 142 96 all_cancers(76;0.11) Myeloproliferative disorder(178;0.0821) STAD - Stomach adenocarcinoma(284;0.123) OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048) GAGCATCCCTGACGCTTTCAG 0.667000 11 36 0 0 1 0 0 POTEE 445582 broad.mit.edu 37 2 131981311 131981311 + Nonsense_Mutation SNP G G T TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr2:131981311G>T ENST00000358087.5 + 2 716 c.664G>T c.(664-666)Gag>Tag p.E222* PLEKHB2_ENST00000303908.3_Intron|POTEE_ENST00000356920.5_Intron|PLEKHB2_ENST00000404460.1_Intron Q6S8J3 POTEE_HUMAN POTE ankyrin domain family, member E 212 ATP binding ATATCAGCATGAGGTGGGTTT 0.358000 7 37 0.0477658 0.0487052 1 1 0 NGEF 25791 broad.mit.edu 37 2 233839369 233839369 + Nonsense_Mutation SNP T T A rs2271703 by1000genomes TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr2:233839369T>A ENST00000264051.3 - 2 510 c.232A>T c.(232-234)Aga>Tga p.R78* NM_019850.2 NP_062824.2 Q8N5V2 NGEF_HUMAN neuronal guanine nucleotide exchange factor 78 Regulatory region; modulates activity toward RHOA, RAC1 and CDC42 (By similarity). R -> G (in dbSNP:rs2271703). apoptosis|cell differentiation|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|growth cone|plasma membrane Rho guanyl-nucleotide exchange factor activity central_nervous_system(4)|endometrium(8)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|skin(4) 35 Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.00793)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839) Epithelial(121;8.65e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(119;0.00984)|GBM - Glioblastoma multiforme(43;0.0604) GGGTTGTCTCTGGCCTTGGCT 0.507000 34 254 0 0 1 0 0 GRIP1 23426 broad.mit.edu 37 12 66935658 66935658 + Missense_Mutation SNP C C T TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr12:66935658C>T ENST00000359742.4 - 3 449 c.209G>A c.(208-210)gGa>gAa p.G70E GRIP1_ENST00000398016.3_Missense_Mutation_p.G70E|GRIP1_ENST00000286445.7_Missense_Mutation_p.G70E Q9Y3R0 GRIP1_HUMAN glutamate receptor interacting protein 1 70 PDZ 1. androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1) 50 GBM - Glioblastoma multiforme(2;0.00069) GBM - Glioblastoma multiforme(28;0.0933) ATCAATTCCTCCCGATACCGT 0.473000 27 213 0 0 1 0 0 GNPAT 8443 broad.mit.edu 37 1 231401781 231401781 + Missense_Mutation SNP A A C TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr1:231401781A>C ENST00000366647.4 + 7 963 c.794A>C c.(793-795)gAg>gCg p.E265A GNPAT_ENST00000366646.3_Missense_Mutation_p.E204A NM_014236.3 NP_055051.1 O15228 GNPAT_HUMAN glyceronephosphate O-acyltransferase 265 ether lipid biosynthetic process|fatty acid metabolic process|organ morphogenesis peroxisomal matrix|peroxisomal membrane glycerone-phosphate O-acyltransferase activity breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1) 23 Breast(184;0.0871) all_cancers(173;0.2)|Prostate(94;0.183) ATTGTGATGGAGCCATTTTTT 0.348000 7 32 0 0 1 0 0 PDGFRA 5156 broad.mit.edu 37 4 55154985 55154985 + Silent SNP C C T TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr4:55154985C>T ENST00000257290.5 + 20 3025 c.2694C>T c.(2692-2694)ggC>ggT p.G898G FIP1L1_ENST00000507166.1_Silent_p.G658G NM_006206.4 NP_006197.1 P16234 PGFRA_HUMAN platelet-derived growth factor receptor, alpha polypeptide 898 Protein kinase. cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye cytoplasm|integral to plasma membrane|nucleus ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1) 967 all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08) GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256) Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268) CTTACCCCGGCATGATGGTGG 0.488000 """Mis, O, T""" FIP1L1 """GIST, idiopathic hypereosinophilic syndrome, paediatric GBM""" Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis TSP Lung(21;0.16) 8 68 0 0 1 0 0 ACE2 59272 broad.mit.edu 37 X 15580054 15580054 + Missense_Mutation SNP T T G TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chrX:15580054T>G ENST00000427411.1 - 19 2608 c.2392A>C c.(2392-2394)Act>Cct p.T798P ACE2_ENST00000471548.1_5'UTR|ACE2_ENST00000252519.3_Missense_Mutation_p.T798P NM_021804.2 NP_068576.1 Q9BYF1 ACE2_HUMAN angiotensin I converting enzyme 2 798 angiotensin-mediated drinking behavior|proteolysis|receptor biosynthetic process|regulation of cell proliferation|virion attachment, binding of host cell surface receptor cell surface|extracellular space|integral to membrane|membrane raft|plasma membrane carboxypeptidase activity|glycoprotein binding|metallopeptidase activity|peptidyl-dipeptidase activity|viral receptor activity|zinc ion binding endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1) 32 Hepatocellular(33;0.183) Moexipril(DB00691) ACATCATCAGTGTTTTGGAAT 0.323000 14 54 0 0 1 0 0 ZNF844 284391 broad.mit.edu 37 19 12187318 12187318 + Silent SNP C C T rs61471402 TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr19:12187318C>T ENST00000439326.3 + 4 1558 c.1383C>T c.(1381-1383)caC>caT p.H461H ZNF844_ENST00000441304.2_3'UTR NM_001136501.1 NP_001129973.1 Q08AG5 ZN844_HUMAN zinc finger protein 844 461 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(1)|prostate(1) 10 ATCTGCCTCACACCTTCAAAT 0.423000 20 57 0 0 1 0 0 FAM71B 153745 broad.mit.edu 37 5 156592640 156592640 + Missense_Mutation SNP C C G TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr5:156592640C>G ENST00000302938.4 - 1 635 c.540G>C c.(538-540)gaG>gaC p.E180D NM_130899.2 NP_570969.2 Q8TC56 FA71B_HUMAN family with sequence similarity 71, member B 180 nucleus NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 68 Renal(175;0.00212) Medulloblastoma(196;0.0523)|all_neural(177;0.21) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) TGCAGTAACTCTCTACTGGTG 0.498000 19 198 0 0 1 0 0 CXCR2P1 3580 broad.mit.edu 37 2 218924996 218924996 + RNA SNP G G T TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr2:218924996G>T ENST00000439871.1 - 0 1384 NR_002712.1 TAGTGGACATGAGGCTTGGAA 0.532000 6 65 0.0215528 0.0220768 1 1 0 SHANK2 22941 broad.mit.edu 37 11 70331648 70331648 + Missense_Mutation SNP G G A TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr11:70331648G>A ENST00000338508.4 - 32 4752 c.4753C>T c.(4753-4755)Ccc>Tcc p.P1585S SHANK2_ENST00000409161.1_Missense_Mutation_p.P988S|SHANK2_ENST00000423696.2_Missense_Mutation_p.P1205S|SHANK2_ENST00000449833.2_Missense_Mutation_p.P989S Q9UPX8 SHAN2_HUMAN SH3 and multiple ankyrin repeat domains 2 1205 intracellular signal transduction cell junction|cytoplasm|postsynaptic density|postsynaptic membrane GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 62 LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071) cccggcgggggcgggggagcg 0.562000 41 159 0 0 1 0 0 DAW1 164781 broad.mit.edu 37 2 228769682 228769682 + Missense_Mutation SNP C C A TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr2:228769682C>A ENST00000373666.2 + 8 1322 c.686C>A c.(685-687)aCc>aAc p.T229N DAW1_ENST00000309931.2_Missense_Mutation_p.T229N|DAW1_ENST00000545118.1_Missense_Mutation_p.T214N dynein assembly factor with WDR repeat domains 1 TCATTTAACACCTCAGGAGAC 0.398000 15 107 2.4624e-09 3.13142e-09 1 1 0 MKLN1 4289 broad.mit.edu 37 7 131113885 131113885 + Missense_Mutation SNP C C G TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr7:131113885C>G ENST00000352689.6 + 9 981 c.941C>G c.(940-942)tCt>tGt p.S314C MKLN1_ENST00000421797.2_Missense_Mutation_p.S222C NM_013255.4 NP_037387.2 Q9UL63 MKLN1_HUMAN muskelin 1, intracellular mediator containing kelch motifs 314 signal transduction cytoplasm protein binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1) 28 Melanoma(18;0.162) ACATGTATCTCTAGAGACACT 0.413000 19 57 0 0 1 0 0 RIMBP2 23504 broad.mit.edu 37 12 130898703 130898703 + Missense_Mutation SNP C C A TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr12:130898703C>A ENST00000261655.4 - 14 2782 c.2619G>T c.(2617-2619)gaG>gaT p.E873D NM_015347.4 NP_056162.4 O15034 RIMB2_HUMAN RIMS binding protein 2 873 SH3 2. cell junction|synapse NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1) 96 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.213) OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05) AGGGAAGCTCCTCCTCTGCAG 0.612000 10 128 0.00621372 0.00646303 1 1 0 ALK 238 broad.mit.edu 37 2 29606604 29606604 + Missense_Mutation SNP T T A TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr2:29606604T>A ENST00000389048.3 - 5 2182 c.1276A>T c.(1276-1278)Agt>Tgt p.S426C ALK_ENST00000431873.1_Intron NM_004304.4 NP_004295.2 Q9UM73 ALK_HUMAN anaplastic lymphoma receptor tyrosine kinase 426 MAM 1. protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9) NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2) 340 Acute lymphoblastic leukemia(172;0.155) Adenosine triphosphate(DB00171) ATACCTTCACTGCAGTTCTTC 0.502000 """T, Mis, A""" """NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22""" """ALCL, NSCLC, Neuroblastoma""" neuroblastoma Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome 5 27 0 0 1 0 0 MRS2 57380 broad.mit.edu 37 6 24423918 24423918 + Missense_Mutation SNP G G A rs114959453 byFrequency TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr6:24423918G>A ENST00000378386.3 + 11 1421 c.1328G>A c.(1327-1329)cGt>cAt p.R443H MRS2_ENST00000443868.2_Missense_Mutation_p.R446H|MRS2_ENST00000535061.1_Missense_Mutation_p.R393H|MRS2_ENST00000543597.1_Missense_Mutation_p.R152H|MRS2_ENST00000274747.7_3'UTR NM_020662.2 NP_065713.1 Q9HD23 MRS2_HUMAN MRS2 magnesium transporter 443 ion transport integral to membrane|mitochondrial inner membrane breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)|stomach(1) 12 CTAACAAACCGTTAGGAACAG 0.383000 3 20 0 0 1 0 0 OR2D2 120776 broad.mit.edu 37 11 6913241 6913241 + Missense_Mutation SNP A A T TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr11:6913241A>T ENST00000299459.2 - 1 589 c.491T>A c.(490-492)cTg>cAg p.L164Q NM_003700.1 NP_003691.1 Q9H210 OR2D2_HUMAN olfactory receptor, family 2, subfamily D, member 2 164 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(9)|ovary(1)|skin(2) 18 Medulloblastoma(188;0.0523)|all_neural(188;0.236) Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) GGGTAGCCTCAGTATGAAGGT 0.502000 7 46 0 0 1 0 0 JARID2 3720 broad.mit.edu 37 6 15468844 15468844 + Missense_Mutation SNP G G C TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr6:15468844G>C ENST00000341776.2 + 5 809 c.565G>C c.(565-567)Gat>Cat p.D189H JARID2_ENST00000397311.3_Missense_Mutation_p.D17H|JARID2_ENST00000541660.1_Missense_Mutation_p.D151H NM_004973.3 NP_004964.2 Q92833 JARD2_HUMAN jumonji, AT rich interactive domain 2 189 central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent chromatin binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1) 59 Breast(50;0.0142)|Ovarian(93;0.103) all_hematologic(90;0.00612) CGAGGAGGAAGATGATGAGAC 0.478000 13 57 0 0 1 0 0 DEAF1 10522 broad.mit.edu 37 11 678772 678772 + Missense_Mutation SNP G G T TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr11:678772G>T ENST00000382409.3 - 9 1661 c.1177C>A c.(1177-1179)Cac>Aac p.H393N DEAF1_ENST00000525904.1_5'UTR|DEAF1_ENST00000338675.6_Missense_Mutation_p.H304N NM_021008.2 NP_066288.2 O75398 DEAF1_HUMAN DEAF1 transcription factor 393 Pro-rich. embryonic skeletal system development|germ cell development|neural tube closure|regulation of mammary gland epithelial cell proliferation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter cytoplasm|extracellular region|nucleus protein binding|zinc ion binding breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1) 24 all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136) all cancers(45;1.76e-27)|Epithelial(43;8.42e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.55e-21)|BRCA - Breast invasive adenocarcinoma(625;4.83e-05)|Lung(200;0.0259)|LUSC - Lung squamous cell carcinoma(625;0.075) CCGGGGTAGTGAGGCTCAGGG 0.582000 28 103 3.57733e-08 4.42407e-08 1 1 0 ZBTB26 57684 broad.mit.edu 37 9 125681461 125681461 + Silent SNP G G A TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr9:125681461G>A ENST00000373656.3 - 2 826 c.753C>T c.(751-753)atC>atT p.I251I ZBTB26_ENST00000373654.1_Silent_p.I251I NM_020924.2 NP_065975.1 Q9HCK0 ZBT26_HUMAN zinc finger and BTB domain containing 26 251 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(4)|prostate(1) 11 TTGAGGCCATGATGATGTTAT 0.433000 20 75 0 0 1 0 0 SETDB1 9869 broad.mit.edu 37 1 150936131 150936131 + Nonsense_Mutation SNP A A T TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr1:150936131A>T ENST00000271640.5 + 20 3773 c.3583A>T c.(3583-3585)Aag>Tag p.K1195* SETDB1_ENST00000368969.4_Nonsense_Mutation_p.K1195* NM_001145415.1|NM_012432.3 NP_001138887.1|NP_036564.3 Q15047 SETB1_HUMAN SET domain, bifurcated 1 1195 SET. regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|Golgi apparatus|nucleus|plasma membrane DNA binding|histone-lysine N-methyltransferase activity|protein binding|zinc ion binding NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1) 12 all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211) ACCTGTTCGTAAGAACACACG 0.502000 17 148 0 0 1 0 0 HSH2D 84941 broad.mit.edu 37 19 16268467 16268467 + Missense_Mutation SNP G G C TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr19:16268467G>C ENST00000253680.6 + 9 1452 c.921G>C c.(919-921)agG>agC p.R307S HSH2D_ENST00000588246.1_3'UTR|HSH2D_ENST00000593154.2_3'UTR|HSH2D_ENST00000397372.4_Missense_Mutation_p.R217S Q96JZ2 HSH2D_HUMAN hematopoietic SH2 domain containing 307 cytoplasm|nucleus central_nervous_system(1)|kidney(1)|large_intestine(2) 4 CAGGGGACAGGAGTTGGCACC 0.607000 6 25 0 0 1 0 0 NFIC 4782 broad.mit.edu 37 19 3453868 3453868 + Missense_Mutation SNP A A C rs150025045 by1000genomes TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr19:3453868A>C ENST00000589123.1 + 9 1470 c.1350A>C c.(1348-1350)aaA>aaC p.K450N NFIC_ENST00000590282.1_Intron|NFIC_ENST00000586919.1_Intron|NFIC_ENST00000443272.2_Missense_Mutation_p.K459N|NFIC_ENST00000395111.3_Intron|NFIC_ENST00000346156.5_Intron|NFIC_ENST00000341919.3_Intron NM_001245005.1|NM_205843.2 NP_001231934.1|NP_995315.1 P08651 NFIC_HUMAN nuclear factor I/C (CCAAT-binding transcription factor) 459 DNA replication|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 21 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;7.8e-05)|Epithelial(107;2.94e-108)|BRCA - Breast invasive adenocarcinoma(158;0.00154)|STAD - Stomach adenocarcinoma(1328;0.191) CTGCCACCAAACCCGCCACCA 0.701000 4 1 0 0 1 0 0 RFX2 5990 broad.mit.edu 37 19 5997191 5997191 + Silent SNP G G A TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr19:5997191G>A ENST00000303657.5 - 16 2042 c.1893C>T c.(1891-1893)agC>agT p.S631S CTC-232P5.1_ENST00000587836.1_RNA|RFX2_ENST00000359161.3_Silent_p.S631S|RFX2_ENST00000592546.1_Silent_p.S606S NM_000635.3 NP_000626.2 P48378 RFX2_HUMAN regulatory factor X, 2 (influences HLA class II expression) 631 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 21 AGCTGGCAGCGCTGCGCAGGG 0.672000 16 33 0 0 1 0 0 PTX3 5806 broad.mit.edu 37 3 157160340 157160340 + Missense_Mutation SNP C C G TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr3:157160340C>G ENST00000295927.3 + 3 863 c.718C>G c.(718-720)Ctc>Gtc p.L240V VEPH1_ENST00000543418.1_Intron|VEPH1_ENST00000392832.2_Intron|VEPH1_ENST00000392833.2_Intron|VEPH1_ENST00000362010.2_Intron NM_002852.3 NP_002843.2 P26022 PTX3_HUMAN pentraxin 3, long 240 Pentaxin. inflammatory response extracellular region p.L240V(1) central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|stomach(1) 10 Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461) CCAGCTGTATCTCAGCTACCA 0.473000 13 104 0 0 1 0 0 XRN2 22803 broad.mit.edu 37 20 21337264 21337264 + Missense_Mutation SNP G G A TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr20:21337264G>A ENST00000377191.3 + 23 2254 c.2159G>A c.(2158-2160)gGa>gAa p.G720E XRN2_ENST00000430571.2_Missense_Mutation_p.G644E|XRN2_ENST00000539513.1_Missense_Mutation_p.G666E NM_012255.3 NP_036387.2 Q9H0D6 XRN2_HUMAN 5'-3' exoribonuclease 2 720 cell growth|DNA catabolic process, exonucleolytic|mRNA processing|regulation of transcription, DNA-dependent|RNA catabolic process|spermatogenesis|transcription termination, DNA-dependent nucleolus 5'-3' exoribonuclease activity|nucleic acid binding|protein binding|zinc ion binding endometrium(5)|kidney(6)|large_intestine(10)|lung(12)|ovary(1)|skin(5) 39 GGGATTCAAGGAAAGTTTTCT 0.393000 8 33 0 0 1 0 0 KCNK10 54207 broad.mit.edu 37 14 88737108 88737108 + Missense_Mutation SNP C C A TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr14:88737108C>A ENST00000312350.5 - 1 147 c.26G>T c.(25-27)aGg>aTg p.R9M KCNK10_ENST00000319231.5_Intron|KCNK10_ENST00000340700.5_Intron NM_138318.2 NP_612191.1 P57789 KCNKA_HUMAN potassium channel, subfamily K, member 10 0 signal transduction integral to membrane potassium channel activity|voltage-gated ion channel activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 47 gccttcagtcctgtccccctt 0.507000 57 202 9.10829e-22 1.30063e-21 1 1 0 WASL 8976 broad.mit.edu 37 7 123388768 123388768 + Missense_Mutation SNP C C A TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr7:123388768C>A ENST00000223023.4 - 1 353 c.21G>T c.(19-21)caG>caT p.Q7H NM_003941.2 NP_003932.3 O00401 WASL_HUMAN Wiskott-Aldrich syndrome-like 7 actin polymerization or depolymerization|axon guidance|cellular component movement|nitric oxide metabolic process|protein complex assembly|regulation of nitric-oxide synthase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent actin cytoskeleton|cytosol|nucleolus|plasma membrane actin binding|small GTPase regulator activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 GCGGCGGCGGCTGCTGCTGGA 0.667000 8 24 0.000442599 0.000476537 1 1 0 ZC3H14 79882 broad.mit.edu 37 14 89039334 89039334 + Nonsense_Mutation SNP G G T TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr14:89039334G>T ENST00000251038.5 + 6 1069 c.844G>T c.(844-846)Gag>Tag p.E282* ZC3H14_ENST00000336693.4_Nonsense_Mutation_p.E248*|ZC3H14_ENST00000556945.1_Nonsense_Mutation_p.E282*|ZC3H14_ENST00000557607.1_Nonsense_Mutation_p.E127*|ZC3H14_ENST00000302216.8_Nonsense_Mutation_p.E282*|ZC3H14_ENST00000393514.5_Nonsense_Mutation_p.E282*|ZC3H14_ENST00000359301.3_Nonsense_Mutation_p.E248*|ZC3H14_ENST00000555755.1_Nonsense_Mutation_p.E282* NM_001160103.1|NM_001160104.1|NM_024824.4 NP_001153575.1|NP_001153576.1|NP_079100.2 Q6PJT7 ZC3HE_HUMAN zinc finger CCCH-type containing 14 282 cytoplasm|nuclear speck protein binding|RNA binding|zinc ion binding cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(2) 21 AAACAACTCGGAGAAAATGAG 0.363000 13 64 2.61681e-11 3.4583e-11 1 1 0 PLA2G2A 5320 broad.mit.edu 37 1 20302260 20302260 + Silent SNP C C A TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr1:20302260C>A ENST00000375111.3 - 6 640 c.369G>T c.(367-369)acG>acT p.T123T PLA2G2A_ENST00000496748.1_5'UTR|PLA2G2A_ENST00000400520.3_Silent_p.T123T NM_000300.3|NM_001161727.1 NP_000291.1|NP_001155199.1 P14555 PA2GA_HUMAN phospholipase A2, group IIA (platelets, synovial fluid) 123 defense response to Gram-positive bacterium|lipid catabolic process|low-density lipoprotein particle remodeling|phosphatidic acid metabolic process|positive regulation of inflammatory response|positive regulation of macrophage derived foam cell differentiation endoplasmic reticulum|extracellular space|membrane calcium ion binding|calcium-dependent phospholipase A2 activity|phospholipid binding central_nervous_system(1)|lung(6)|prostate(1)|stomach(1) 9 Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00459)|Lung NSC(340;0.00475)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427) UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000138)|Kidney(64;0.000171)|GBM - Glioblastoma multiforme(114;0.00032)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) TATTGTAGGTCGTCTTGTTTC 0.463000 13 58 0.00185496 0.00196579 1 1 0 MYO3A 53904 broad.mit.edu 37 10 26241126 26241126 + Missense_Mutation SNP A A T TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr10:26241126A>T ENST00000265944.5 + 3 253 c.87A>T c.(85-87)aaA>aaT p.K29N MYO3A_ENST00000376302.1_Missense_Mutation_p.K29N|MYO3A_ENST00000376301.1_Missense_Mutation_p.K29N|MYO3A_ENST00000543632.1_Missense_Mutation_p.K29N NM_017433.4 NP_059129.3 Q8NEV4 MYO3A_HUMAN myosin IIIA 29 Protein kinase. protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception cytoplasm|filamentous actin|filopodium|myosin complex actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 146 CAATTGGCAAAGGAACTTATG 0.318000 5 28 0 0 1 0 0 DCAF5 8816 broad.mit.edu 37 14 69521069 69521069 + Missense_Mutation SNP C C G TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr14:69521069C>G ENST00000341516.5 - 9 2481 c.2334G>C c.(2332-2334)aaG>aaC p.K778N DCAF5_ENST00000557386.1_Missense_Mutation_p.K777N|DCAF5_ENST00000554215.1_Missense_Mutation_p.K696N|DCAF5_ENST00000556847.1_Missense_Mutation_p.K696N NM_003861.2 NP_003852.1 Q96JK2 DCAF5_HUMAN DDB1 and CUL4 associated factor 5 778 CUL4 RING ubiquitin ligase complex breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|upper_aerodigestive_tract(2) 29 CATTGAGCTTCTTGGTTTCAA 0.592000 13 78 0 0 1 0 0 DNER 92737 broad.mit.edu 37 2 230456419 230456419 + Silent SNP C C T TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr2:230456419C>T ENST00000341772.4 - 2 596 c.462G>A c.(460-462)caG>caA p.Q154Q NM_139072.3 NP_620711.3 Q8NFT8 DNER_HUMAN delta/notch-like EGF repeat containing 154 central nervous system development|endocytosis|neuron migration|Notch signaling pathway|synapse assembly dendrite|early endosome|integral to membrane|plasma membrane calcium ion binding|clathrin binding|transmembrane receptor activity NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 63 all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175) Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375) CAGGAACAGGCTGAAGCTGTC 0.562000 7 68 0 0 1 0 0 ZNF214 7761 broad.mit.edu 37 11 7022215 7022215 + Silent SNP C C T TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr11:7022215C>T ENST00000278314.4 - 3 1014 c.699G>A c.(697-699)cgG>cgA p.R233R ZNF214_ENST00000536068.1_Silent_p.R233R NM_013249.2 NP_037381.2 Q9UL59 ZN214_HUMAN zinc finger protein 214 233 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 Epithelial(150;3.87e-08)|BRCA - Breast invasive adenocarcinoma(625;0.081) GGAAAACACACCGTGAGTTCC 0.383000 10 71 0 0 1 0 0 GPR116 221395 broad.mit.edu 37 6 46828610 46828610 + Nonsense_Mutation SNP G G A TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr6:46828610G>A ENST00000283296.7 - 16 2509 c.2221C>T c.(2221-2223)Cag>Tag p.Q741* GPR116_ENST00000456426.2_Nonsense_Mutation_p.Q599*|GPR116_ENST00000362015.4_Nonsense_Mutation_p.Q741*|GPR116_ENST00000545669.1_Nonsense_Mutation_p.Q170*|GPR116_ENST00000265417.7_Nonsense_Mutation_p.Q741* NM_001098518.1 NP_001091988.1 Q8IZF2 GP116_HUMAN G protein-coupled receptor 116 741 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 59 Lung(136;0.192) ATCTCATCCTGAGAGGGGCTC 0.423000 4 27 0 0 1 0 0 INTS12 57117 broad.mit.edu 37 4 106604352 106604352 + Silent SNP T T C TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr4:106604352T>C ENST00000451321.2 - 7 1406 c.927A>G c.(925-927)aaA>aaG p.K309K INTS12_ENST00000340139.5_Silent_p.K309K|INTS12_ENST00000394735.1_Silent_p.K309K NM_001142471.1 NP_001135943.1 Q96CB8 INT12_HUMAN integrator complex subunit 12 309 Ser-rich. snRNA processing integrator complex protein binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|urinary_tract(1) 14 OV - Ovarian serous cystadenocarcinoma(123;5.12e-07) TTGAACTCAATTTTGCTGTTG 0.463000 10 66 0 0 1 0 0 TBC1D31 93594 broad.mit.edu 37 8 124138357 124138357 + Missense_Mutation SNP G G C TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr8:124138357G>C ENST00000287380.1 + 12 1722 c.1632G>C c.(1630-1632)atG>atC p.M544I TBC1D31_ENST00000327098.5_Missense_Mutation_p.M544I|TBC1D31_ENST00000309336.3_Missense_Mutation_p.M544I|TBC1D31_ENST00000522420.1_Missense_Mutation_p.M439I|TBC1D31_ENST00000521676.1_Missense_Mutation_p.M421I|TBC1D31_ENST00000518805.1_Missense_Mutation_p.M177I|TBC1D31_ENST00000378080.2_Missense_Mutation_p.M439I NM_145647.3 NP_663622.2 TBC1 domain family, member 31 TTCTTAGCATGATAGAAAATG 0.318000 7 58 0 0 1 0 0 PLEKHG4 25894 broad.mit.edu 37 16 67316232 67316232 + Silent SNP G G T TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr16:67316232G>T ENST00000360461.5 + 8 3768 c.1233G>T c.(1231-1233)gtG>gtT p.V411V PLEKHG4_ENST00000450733.1_Silent_p.V330V|PLEKHG4_ENST00000379344.3_Silent_p.V411V|PLEKHG4_ENST00000427155.2_Silent_p.V411V NM_001129727.1|NM_015432.3 NP_001123199.1|NP_056247.1 Q58EX7 PKHG4_HUMAN pleckstrin homology domain containing, family G (with RhoGef domain) member 4 411 regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 37 OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)|Kidney(780;0.119) TCCCAGAGGTGACCCTGAGCC 0.607000 5 29 3.59834e-05 4.04888e-05 1 1 0 CPNE4 131034 broad.mit.edu 37 3 131261465 131261465 + Nonsense_Mutation SNP G G T TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr3:131261465G>T ENST00000512055.1 - 19 3601 c.1475C>A c.(1474-1476)tCa>tAa p.S492* CPNE4_ENST00000511604.1_Nonsense_Mutation_p.S492*|CPNE4_ENST00000502818.1_Nonsense_Mutation_p.S510*|CPNE4_ENST00000512332.1_Nonsense_Mutation_p.S510*|CPNE4_ENST00000429747.1_Nonsense_Mutation_p.S492* Q96A23 CPNE4_HUMAN copine IV 492 VWFA. central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|liver(1)|lung(16)|prostate(2)|skin(3)|upper_aerodigestive_tract(3) 39 TCCCTTGGGTGACCTCAGAAT 0.522000 13 72 4.3838e-07 5.2481e-07 1 1 0 FBXO39 162517 broad.mit.edu 37 17 6683452 6683452 + Missense_Mutation SNP C C G TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr17:6683452C>G ENST00000321535.4 + 2 395 c.265C>G c.(265-267)Ctg>Gtg p.L89V NM_153230.2 NP_694962.1 Q8N4B4 FBX39_HUMAN F-box protein 39 89 NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 26 TGGTCGTTATCTGGAGCACCT 0.493000 15 136 0 0 1 0 0 EPHA6 285220 broad.mit.edu 37 3 96706414 96706414 + Missense_Mutation SNP G G A TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr3:96706414G>A ENST00000389672.5 + 3 729 c.691G>A c.(691-693)Gga>Aga p.G231R EPHA6_ENST00000470610.2_Missense_Mutation_p.G231R|EPHA6_ENST00000542517.1_Missense_Mutation_p.G137R NM_001080448.2 NP_001073917.2 Q9UF33 EPHA6_HUMAN EPH receptor A6 136 integral to plasma membrane ATP binding|ephrin receptor activity p.G137*(2)|p.G231*(1) NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2) 101 TGAGTCCCACGGAATTAAATT 0.398000 15 130 0 0 1 0 0 BTNL9 153579 broad.mit.edu 37 5 180477290 180477290 + Silent SNP G G A TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr5:180477290G>A ENST00000327705.9 + 4 888 c.657G>A c.(655-657)gcG>gcA p.A219A BTNL9_ENST00000376842.3_Silent_p.A219A|BTNL9_ENST00000376841.2_Silent_p.A219A|BTNL9_ENST00000515271.1_Silent_p.A150A NM_152547.4 NP_689760.2 Q6UXG8 BTNL9_HUMAN butyrophilin-like 9 219 integral to membrane breast(2)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(10)|ovary(1) 19 all_cancers(89;2.45e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114) all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) TTGTCCGAGCGGGAGCCCTCA 0.557000 19 90 0 0 1 0 0 AHSA1 10598 broad.mit.edu 37 14 77928557 77928557 + Missense_Mutation SNP C C T TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr14:77928557C>T ENST00000216479.3 + 3 486 c.326C>T c.(325-327)tCt>tTt p.S109F AHSA1_ENST00000535854.2_Missense_Mutation_p.S109F|AHSA1_ENST00000555457.1_3'UTR NM_012111.2 NP_036243.1 O95433 AHSA1_HUMAN AHA1, activator of heat shock 90kDa protein ATPase homolog 1 (yeast) 109 protein folding|response to stress cytosol|endoplasmic reticulum ATPase activator activity|chaperone binding endometrium(1)|kidney(3)|large_intestine(1)|prostate(1)|skin(1)|stomach(1) 8 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0281) CCCAATTTGTCTGATGAAAAC 0.423000 5 33 0 0 1 0 0 LY75 4065 broad.mit.edu 37 2 160661568 160661568 + Missense_Mutation SNP G G T TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr2:160661568G>T ENST00000263636.4 - 35 5183 c.5156C>A c.(5155-5157)tCt>tAt p.S1719Y LY75_ENST00000554112.1_Intron|LY75-CD302_ENST00000505052.1_Intron|LY75-CD302_ENST00000504764.1_Intron|LY75_ENST00000553424.1_Intron NM_002349.3 NP_002340.2 lymphocyte antigen 75 NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 59 COAD - Colon adenocarcinoma(177;0.132) GTCATGGAAAGAAGGAAGCAT 0.388000 15 31 0.00400662 0.00418677 1 1 0 NETO2 81831 broad.mit.edu 37 16 47117291 47117291 + Silent SNP T T C TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr16:47117291T>C ENST00000562435.1 - 9 1803 c.1419A>G c.(1417-1419)acA>acG p.T473T NETO2_ENST00000303155.5_Silent_p.T466T NM_018092.4 NP_060562.3 Q8NC67 NETO2_HUMAN neuropilin (NRP) and tolloid (TLL)-like 2 473 integral to membrane receptor activity breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(4) 29 all_cancers(37;0.00114)|all_lung(18;0.00432)|Lung NSC(13;0.0384)|Breast(268;0.174) TGCTATTAAATGTTTTCATTG 0.488000 HNSCC(25;0.065) 23 187 0 0 1 0 0 RBM27 54439 broad.mit.edu 37 5 145638105 145638105 + Missense_Mutation SNP G G C TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr5:145638105G>C ENST00000265271.5 + 11 1854 c.1688G>C c.(1687-1689)aGa>aCa p.R563T RBM27_ENST00000506502.1_Missense_Mutation_p.R508T NM_018989.1 NP_061862.1 Q9P2N5 RBM27_HUMAN RNA binding motif protein 27 563 mRNA processing cytoplasm|nuclear speck nucleotide binding|RNA binding|zinc ion binding NS(2)|breast(1)|central_nervous_system(3)|endometrium(4)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1) 39 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) AGTCGAAAAAGAGCTATGAGT 0.403000 12 58 0 0 1 0 0 TMED10 10972 broad.mit.edu 37 14 75614401 75614401 + Missense_Mutation SNP A A C TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr14:75614401A>C ENST00000303575.4 - 3 428 c.377T>G c.(376-378)aTg>aGg p.M126R TMED10_ENST00000557670.1_5'UTR NM_006827.5 NP_006818.3 P49755 TMEDA_HUMAN transmembrane emp24-like trafficking protein 10 (yeast) 126 GOLD. protein transport|regulated secretory pathway|vesicle targeting, to, from or within Golgi cis-Golgi network|ER-Golgi intermediate compartment|Golgi membrane|integral to membrane|melanosome|microsome|zymogen granule membrane protein binding endometrium(1)|large_intestine(5)|lung(3) 9 BRCA - Breast invasive adenocarcinoma(234;0.0126) TCCATGCTTCATGTCTAGGAT 0.463000 33 175 0 0 1 0 0 OR4S1 256148 broad.mit.edu 37 11 48328343 48328343 + Missense_Mutation SNP C C T TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr11:48328343C>T ENST00000319988.1 + 1 569 c.569C>T c.(568-570)aCc>aTc p.T190I NM_001004725.1 NP_001004725.1 Q8NGB4 OR4S1_HUMAN olfactory receptor, family 4, subfamily S, member 1 190 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|skin(3) 21 TGTGCAGACACCTACATGGTA 0.458000 18 67 0 0 1 0 0 SI 6476 broad.mit.edu 37 3 164737536 164737536 + Missense_Mutation SNP A A T TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr3:164737536A>T ENST00000264382.3 - 28 3339 c.3277T>A c.(3277-3279)Ttt>Att p.F1093I NM_001041.3 NP_001032.2 P14410 SUIS_HUMAN sucrase-isomaltase (alpha-glucosidase) 1093 Sucrase. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|brush border|Golgi apparatus|integral to membrane carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1) 218 Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199) Acarbose(DB00284) TTAAAAGCAAATCCAGGCAGC 0.353000 HNSCC(35;0.089) 11 38 0 0 1 0 0 LRRN4CL 221091 broad.mit.edu 37 11 62455963 62455963 + Silent SNP G G A TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr11:62455963G>A ENST00000317449.4 - 2 495 c.18C>T c.(16-18)tgC>tgT p.C6C NM_203422.2 NP_981967.1 Q8ND94 LRN4L_HUMAN LRRN4 C-terminal like 6 integral to membrane cervix(1)|kidney(1) 2 GCCACAGAAGGCAGGGAGAGC 0.577000 5 35 0 0 1 0 0 ALCAM 214 broad.mit.edu 37 3 105269047 105269047 + Missense_Mutation SNP C C G TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr3:105269047C>G ENST00000306107.5 + 12 1951 c.1451C>G c.(1450-1452)aCt>aGt p.T484S ALCAM_ENST00000486979.2_Missense_Mutation_p.T433S|ALCAM_ENST00000472644.2_Missense_Mutation_p.T484S|ALCAM_ENST00000389927.4_Missense_Mutation_p.T206S NM_001627.3 NP_001618.2 Q13740 CD166_HUMAN activated leukocyte cell adhesion molecule 484 Ig-like C2-type 3. cell adhesion|signal transduction integral to membrane receptor binding breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1) 28 GTTACATTAACTTGCACAGCA 0.338000 25 67 0 0 1 0 0 KIN 22944 broad.mit.edu 37 10 7822238 7822238 + Missense_Mutation SNP C C A TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr10:7822238C>A ENST00000379562.3 - 3 289 c.242G>T c.(241-243)aGg>aTg p.R81M KIN_ENST00000543003.1_De_novo_Start_InFrame|KIN_ENST00000535925.1_Missense_Mutation_p.R81M O60870 KIN17_HUMAN KIN, antigenic determinant of recA protein homolog (mouse) 81 DNA recombination|DNA repair|DNA replication|interspecies interaction between organisms|mRNA processing cytoplasm|nuclear matrix double-stranded DNA binding|RNA binding|zinc ion binding endometrium(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|skin(2) 19 AAAGCGTCTCCTGAGAAGTTC 0.313000 12 57 1.08611e-07 1.32856e-07 1 1 0 MYH4 4622 broad.mit.edu 37 17 10357076 10357076 + Missense_Mutation SNP G G T TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr17:10357076G>T ENST00000255381.2 - 23 2928 c.2818C>A c.(2818-2820)Ctg>Atg p.L940M CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA NM_017533.2 NP_060003.2 Q9Y623 MYH4_HUMAN myosin, heavy chain 4, skeletal muscle 940 muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 149 TTGGCTGTCAGCTCAGCATTG 0.433000 27 268 7.38237e-10 9.56868e-10 1 1 0 SLC13A1 6561 broad.mit.edu 37 7 122774493 122774493 + Silent SNP G G T TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr7:122774493G>T ENST00000194130.2 - 8 942 c.903C>A c.(901-903)atC>atA p.I301I SLC13A1_ENST00000539873.1_3'UTR NM_022444.3 NP_071889.2 Q9BZW2 S13A1_HUMAN solute carrier family 13 (sodium/sulfate symporter), member 1 301 integral to membrane|plasma membrane sodium:sulfate symporter activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 45 Succinic acid(DB00139) ACTGAAGCCAGATCCAGGATA 0.413000 18 44 8.81451e-21 1.2481e-20 1 1 0 GFAP 2670 broad.mit.edu 37 17 42990693 42990693 + Missense_Mutation SNP A A G rs60551555 TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr17:42990693A>G ENST00000253408.5 - 4 789 c.724T>C c.(724-726)Tat>Cat p.Y242H GFAP_ENST00000588735.1_Intron|GFAP_ENST00000586793.1_Missense_Mutation_p.Y242H|GFAP_ENST00000435360.2_Missense_Mutation_p.Y242H NM_002055.4 NP_002046.1 P14136 GFAP_HUMAN glial fibrillary acidic protein 242 Coil 2A.|Rod. cytoplasm|intermediate filament structural constituent of cytoskeleton endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(11)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1) 23 Prostate(33;0.0959) ATTGCCTCATACTGCGTGCGG 0.627000 23 138 0 0 1 0 0 PRMT3 10196 broad.mit.edu 37 11 20529927 20529927 + Missense_Mutation SNP A A T TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr11:20529927A>T ENST00000331079.6 + 16 1781 c.1564A>T c.(1564-1566)Aat>Tat p.N522Y PRMT3_ENST00000437750.2_Missense_Mutation_p.N460Y NM_001145167.1|NM_005788.3 NP_001138639.1|NP_005779.1 O60678 ANM3_HUMAN protein arginine methyltransferase 3 522 zinc ion binding endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|prostate(1) 17 CCTCACGTTGAATAATTCAAC 0.438000 9 43 0 0 1 0 0 CDC42EP3 10602 broad.mit.edu 37 2 37873561 37873561 + Missense_Mutation SNP G G C TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr2:37873561G>C ENST00000295324.3 - 2 1170 c.170C>G c.(169-171)tCc>tGc p.S57C AC006369.2_ENST00000419425.1_RNA NM_001270436.1|NM_001270437.1|NM_001270438.1|NM_006449.3 NP_001257365.1|NP_001257366.1|NP_001257367.1|NP_006440.2 Q9UKI2 BORG2_HUMAN CDC42 effector protein (Rho GTPase binding) 3 57 regulation of cell shape|signal transduction actin cytoskeleton|cytoplasm|endomembrane system|membrane cytoskeletal regulatory protein binding endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|prostate(1) 11 all_hematologic(82;0.172) TTGAAGAAAGGAAATATCTCC 0.517000 34 112 0 0 1 0 0 KRTAP27-1 643812 broad.mit.edu 37 21 31709460 31709460 + Missense_Mutation SNP A A T rs112016880 byFrequency TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr21:31709460A>T ENST00000382835.2 - 1 552 c.527T>A c.(526-528)cTg>cAg p.L176Q NM_001077711.1 NP_001071179.1 Q3LI81 KR271_HUMAN keratin associated protein 27-1 176 intermediate filament endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|skin(1) 18 AACATTGACCAGAGGTCTACA 0.458000 17 69 0 0 1 0 0 DCTN1 1639 broad.mit.edu 37 2 74600066 74600066 + Missense_Mutation SNP G G A rs148810193 TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr2:74600066G>A ENST00000361874.3 - 7 759 c.442C>T c.(442-444)Cgg>Tgg p.R148W DCTN1_ENST00000409868.1_Missense_Mutation_p.R131W|DCTN1_ENST00000409438.1_Missense_Mutation_p.R14W|DCTN1_ENST00000409567.3_Intron|DCTN1_ENST00000394003.3_Missense_Mutation_p.R141W|DCTN1_ENST00000409240.1_Intron|DCTN1_ENST00000407639.2_Missense_Mutation_p.R14W NM_004082.4 NP_004073.2 Q14203 DCTN1_HUMAN dynactin 1 148 cell death|G2/M transition of mitotic cell cycle|mitosis|nervous system development centrosome|cytosol|kinetochore|microtubule|spindle pole motor activity|protein binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3) 45 TTGGGTCGCCGAGTTGTGGTC 0.522000 9 51 0 0 1 0 0 CECR1 51816 broad.mit.edu 37 22 17690470 17690470 + Missense_Mutation SNP G G T TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr22:17690470G>T ENST00000399839.1 - 2 368 c.98C>A c.(97-99)aCa>aAa p.T33K CECR1_ENST00000449907.2_5'UTR|CECR1_ENST00000262607.3_Missense_Mutation_p.T33K|CECR1_ENST00000399837.2_Missense_Mutation_p.T33K Q9NZK5 CECR1_HUMAN cat eye syndrome chromosome region, candidate 1 33 Dimerization. adenosine catabolic process|hypoxanthine salvage|inosine biosynthetic process|multicellular organismal development|purine ribonucleoside monophosphate biosynthetic process extracellular space|Golgi apparatus adenosine deaminase activity|adenosine receptor binding|growth factor activity|heparin binding|protein homodimerization activity|proteoglycan binding|zinc ion binding endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|prostate(2)|stomach(1) 25 all_epithelial(15;0.0152)|Lung NSC(13;0.0875)|all_lung(157;0.106) ATGCGCCCGTGTTTCATCTAT 0.567000 6 52 0.0293803 0.0300036 1 1 0 GNB1L 54584 broad.mit.edu 37 22 19808806 19808806 + Missense_Mutation SNP C C G TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr22:19808806C>G ENST00000329517.6 - 3 309 c.73G>C c.(73-75)Gcg>Ccg p.A25P GNB1L_ENST00000405009.1_Missense_Mutation_p.A25P|GNB1L_ENST00000460402.1_Intron|GNB1L_ENST00000403325.1_Missense_Mutation_p.A25P NM_053004.2 NP_443730.1 Q9BYB4 GNB1L_HUMAN guanine nucleotide binding protein (G protein), beta polypeptide 1-like 25 G-protein coupled receptor protein signaling pathway|intracellular signal transduction internal side of plasma membrane|intracellular breast(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(3)|skin(1) 12 Colorectal(54;0.0993) AAGTGCAGCGCATGCACCGGT 0.687000 12 116 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9046229 9046229 + Nonsense_Mutation SNP G G T TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr19:9046229G>T ENST00000397910.4 - 5 35605 c.35402C>A c.(35401-35403)tCa>tAa p.S11801* NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 11803 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 AATGGTGAGTGAGGCTGTGGT 0.483000 7 25 1.06961e-07 1.31315e-07 1 1 0 FAM155A 728215 broad.mit.edu 37 13 108518771 108518771 + Silent SNP G G A TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr13:108518771G>A ENST00000375915.2 - 1 312 c.174C>T c.(172-174)ttC>ttT p.F58F NM_001080396.2 NP_001073865.1 B1AL88 F155A_HUMAN family with sequence similarity 155, member A 58 integral to membrane binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 33 CCTCGGCGCAGAACCACAAGT 0.607000 17 132 0 0 1 0 0 FERMT3 83706 broad.mit.edu 37 11 63987477 63987477 + Silent SNP C C G TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr11:63987477C>G ENST00000279227.5 + 10 1301 c.1206C>G c.(1204-1206)ctC>ctG p.L402L FERMT3_ENST00000345728.5_Silent_p.L398L NM_178443.2 NP_848537.1 Q86UX7 URP2_HUMAN fermitin family member 3 402 FERM.|PH. integrin activation|leukocyte cell-cell adhesion|platelet aggregation|regulation of cell-cell adhesion mediated by integrin cell junction|cell projection|podosome integrin binding breast(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 18 TTCAGCAGCTCAACCTCAAGG 0.622000 9 69 0 0 1 0 0 DCHS1 8642 broad.mit.edu 37 11 6643583 6643583 + Silent SNP T T C TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr11:6643583T>C ENST00000299441.3 - 21 9735 c.9324A>G c.(9322-9324)agA>agG p.R3108R NM_003737.2 NP_003728.1 Q96JQ0 PCD16_HUMAN dachsous cadherin-related 1 3108 calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 103 Medulloblastoma(188;0.00263)|all_neural(188;0.026) Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GCCCCTCCTCTCTGTAGAGAG 0.642000 5 11 0 0 1 0 0 TRPM3 80036 broad.mit.edu 37 9 73254084 73254084 + Missense_Mutation SNP C C A TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr9:73254084C>A ENST00000377110.2 - 11 1716 c.1473G>T c.(1471-1473)ttG>ttT p.L491F TRPM3_ENST00000396285.1_Missense_Mutation_p.L338F|TRPM3_ENST00000377111.2_Missense_Mutation_p.L491F|TRPM3_ENST00000357533.2_Missense_Mutation_p.L493F|TRPM3_ENST00000423814.3_Missense_Mutation_p.L518F|TRPM3_ENST00000396280.5_Missense_Mutation_p.L338F|TRPM3_ENST00000396292.4_Missense_Mutation_p.L363F|TRPM3_ENST00000360823.2_Missense_Mutation_p.L363F|TRPM3_ENST00000377105.1_Missense_Mutation_p.L338F|TRPM3_ENST00000377106.1_Missense_Mutation_p.L363F|TRPM3_ENST00000408909.2_Missense_Mutation_p.L338F|TRPM3_ENST00000358082.3_Missense_Mutation_p.L363F NM_001007471.2 NP_001007472.2 Q9HCF6 TRPM3_HUMAN transient receptor potential cation channel, subfamily M, member 3 516 integral to membrane calcium channel activity NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1) 95 CTAAGGCATCCAACATGGCTT 0.453000 27 39 1.2476e-16 1.74096e-16 1 1 0 BPIFA1 51297 broad.mit.edu 37 20 31829263 31829263 + Missense_Mutation SNP G G C TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr20:31829263G>C ENST00000354297.4 + 6 725 c.654G>C c.(652-654)ttG>ttC p.L218F BPIFA1_ENST00000375413.4_Missense_Mutation_p.L218F|BPIFA1_ENST00000375422.2_Missense_Mutation_p.L218F NM_130852.2 NP_570913.1 Q9NP55 PLUNC_HUMAN BPI fold containing family A, member 1 218 innate immune response extracellular region lipid binding TGCCTGAGTTGGTTCAGGGCA 0.512000 18 188 0 0 1 0 0 HIVEP2 3097 broad.mit.edu 37 6 143093591 143093591 + Missense_Mutation SNP C C A TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr6:143093591C>A ENST00000367603.2 - 5 3027 c.2285G>T c.(2284-2286)cGg>cTg p.R762L HIVEP2_ENST00000012134.2_Missense_Mutation_p.R762L|HIVEP2_ENST00000367604.1_Missense_Mutation_p.R762L NM_006734.3 NP_006725.3 P31629 ZEP2_HUMAN human immunodeficiency virus type I enhancer binding protein 2 762 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 100 OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102) CAGTTGGGGCCGACATGGGTC 0.537000 12 37 9.31168e-06 1.06918e-05 1 1 0 OR6Q1 219952 broad.mit.edu 37 11 57798603 57798603 + Missense_Mutation SNP C C G TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr11:57798603C>G ENST00000302622.3 + 1 202 c.179C>G c.(178-180)cCc>cGc p.P60R OR9Q1_ENST00000335397.3_Intron NM_001005186.2 NP_001005186.2 Q8NGQ2 OR6Q1_HUMAN olfactory receptor, family 6, subfamily Q, member 1 60 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity biliary_tract(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 Breast(21;0.0707)|all_epithelial(135;0.142) CTACGGAGACCCATGTATTTC 0.488000 43 148 0 0 1 0 0 C11orf87 399947 broad.mit.edu 37 11 109294788 109294788 + Silent SNP T T A TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr11:109294788T>A ENST00000327419.6 + 2 832 c.429T>A c.(427-429)ccT>ccA p.P143P RP11-708B6.2_ENST00000532992.1_RNA|RP11-708B6.2_ENST00000532929.1_RNA NM_207645.3 NP_997528.2 Q6NUJ2 CK087_HUMAN chromosome 11 open reading frame 87 143 integral to membrane breast(2)|endometrium(1)|large_intestine(5)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1) 17 TCTGCGCCCCTTCCAACGCCT 0.716000 38 96 0 0 1 0 0 PIK3C2G 5288 broad.mit.edu 37 12 18573927 18573927 + Silent SNP T T C TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr12:18573927T>C ENST00000433979.1 + 16 2361 c.2245T>C c.(2245-2247)Ttg>Ctg p.L749L PIK3C2G_ENST00000538779.1_Silent_p.L790L|PIK3C2G_ENST00000266497.5_Silent_p.L749L NM_004570.4 NP_004561.3 O75747 P3C2G_HUMAN phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma 749 cell communication|phosphatidylinositol-mediated signaling membrane|phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1) 66 Hepatocellular(102;0.194) AGACAACCTCTTGAATGATGA 0.348000 4 45 0 0 1 0 0 FBXO39 162517 broad.mit.edu 37 17 6683885 6683885 + Missense_Mutation SNP A A G TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr17:6683885A>G ENST00000321535.4 + 2 828 c.698A>G c.(697-699)tAc>tGc p.Y233C NM_153230.2 NP_694962.1 Q8N4B4 FBX39_HUMAN F-box protein 39 233 p.Y233F(1) NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 26 AACCTCAACTACAACTGTATC 0.502000 17 55 0 0 1 0 0 CLP1 10978 broad.mit.edu 37 11 57428663 57428663 + Missense_Mutation SNP C C G TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr11:57428663C>G ENST00000533682.1 + 3 1758 c.1033C>G c.(1033-1035)Caa>Gaa p.Q345E CLP1_ENST00000302731.4_Missense_Mutation_p.Q281E|CLP1_ENST00000529430.1_Missense_Mutation_p.Q356E|CLP1_ENST00000525602.1_Missense_Mutation_p.Q345E Q92989 CLP1_HUMAN cleavage and polyadenylation factor I subunit 1 345 mRNA 3'-end processing|nuclear mRNA splicing, via spliceosome|siRNA loading onto RISC involved in RNA interference|targeting of mRNA for destruction involved in RNA interference|termination of RNA polymerase II transcription|tRNA splicing, via endonucleolytic cleavage and ligation nucleoplasm|tRNA-intron endonuclease complex ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|ATP-dependent polyribonucleotide 5'-hydroxyl-kinase activity autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|stomach(1) 15 GGGCATGTCTCAAGAGGATAA 0.483000 31 127 0 0 1 0 0 SPG11 80208 broad.mit.edu 37 15 44887652 44887652 + Silent SNP G G C TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr15:44887652G>C ENST00000261866.7 - 26 4456 c.4440C>G c.(4438-4440)gcC>gcG p.A1480A SPG11_ENST00000558319.1_Silent_p.A1480A|SPG11_ENST00000427534.2_Silent_p.A1480A|SPG11_ENST00000535302.2_Silent_p.A1480A NM_025137.3 NP_079413.3 Q96JI7 SPTCS_HUMAN spastic paraplegia 11 (autosomal recessive) 1480 cell death cytosol|integral to membrane|nucleus protein binding p.A1480A(1) autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 72 all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122) all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214) AAATGGCACTGGCACCCTGCC 0.428000 8 29 0 0 1 0 0 WDR27 253769 broad.mit.edu 37 6 170064294 170064294 + Missense_Mutation SNP C C A TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr6:170064294C>A ENST00000333572.6 - 8 1391 c.872G>T c.(871-873)aGa>aTa p.R291I WDR27_ENST00000546525.1_5'UTR|WDR27_ENST00000448612.1_Missense_Mutation_p.R291I|WDR27_ENST00000420344.2_3'UTR|WDR27_ENST00000423258.1_Missense_Mutation_p.R164I A2RRH5 WDR27_HUMAN WD repeat domain 27 261 endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1) 12 Breast(66;1.53e-05)|Ovarian(120;0.216) OV - Ovarian serous cystadenocarcinoma(33;6.48e-20)|BRCA - Breast invasive adenocarcinoma(81;3.56e-07)|GBM - Glioblastoma multiforme(31;0.00168) CTTAACCCTTCTTGTGGAGAA 0.532000 11 23 1.58986e-06 1.86684e-06 1 1 0 MED12 9968 broad.mit.edu 37 X 70343054 70343054 + Missense_Mutation SNP G G C TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chrX:70343054G>C ENST00000333646.6 + 11 1794 c.1595G>C c.(1594-1596)aGa>aCa p.R532T MED12_ENST00000374102.1_Missense_Mutation_p.R532T|MED12_ENST00000374080.3_Missense_Mutation_p.R532T NM_005120.2 NP_005111.2 Q93074 MED12_HUMAN mediator complex subunit 12 532 androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3) 420 Renal(35;0.156) CTGGAGAAGAGACAGGCGGAG 0.522000 """M, S""" uterine leiomyoma Opitz-Kaveggia Syndrome 8 79 0 0 1 0 0 AARS2 57505 broad.mit.edu 37 6 44269129 44269129 + Missense_Mutation SNP C C G TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr6:44269129C>G ENST00000244571.4 - 20 2673 c.2671G>C c.(2671-2673)Gag>Cag p.E891Q TMEM151B_ENST00000438774.2_Intron|AARS2_ENST00000491573.1_5'UTR NM_020745.3 NP_065796.1 Q5JTZ9 SYAM_HUMAN alanyl-tRNA synthetase 2, mitochondrial 891 alanyl-tRNA aminoacylation mitochondrion alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(2)|stomach(1) 34 Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) L-Alanine(DB00160) GAGAGAGACTCAGCAGAGACT 0.612000 17 211 0 0 1 0 0 HYOU1 10525 broad.mit.edu 37 11 118926026 118926026 + Missense_Mutation SNP A A C TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr11:118926026A>C ENST00000404233.3 - 5 414 c.290T>G c.(289-291)cTa>cGa p.L97R HYOU1_ENST00000529972.1_Missense_Mutation_p.L97R|HYOU1_ENST00000525859.1_Missense_Mutation_p.L97R|HYOU1_ENST00000543287.1_Missense_Mutation_p.L10R NM_001130991.1|NM_006389.3 NP_001124463.1|NP_006380.1 Q9Y4L1 HYOU1_HUMAN hypoxia up-regulated 1 97 endoplasmic reticulum lumen ATP binding|protein binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(10)|prostate(1)|skin(2) 33 all_hematologic(175;0.0839) Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)|all_hematologic(192;0.207) BRCA - Breast invasive adenocarcinoma(274;7.78e-05) GAAGTAACGTAGCGTAGCCTT 0.537000 32 148 0 0 1 0 0 NPAS3 64067 broad.mit.edu 37 14 34247688 34247688 + Missense_Mutation SNP G G C TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr14:34247688G>C ENST00000346562.2 + 8 1041 c.967G>C c.(967-969)Gat>Cat p.D323H NPAS3_ENST00000356141.4_Missense_Mutation_p.D355H|NPAS3_ENST00000551492.1_Missense_Mutation_p.D360H|NPAS3_ENST00000548645.1_Missense_Mutation_p.D325H|NPAS3_ENST00000357798.5_Missense_Mutation_p.D342H NM_001164749.1|NM_001165893.1|NM_022123.2|NM_173159.2 NP_001158221.1|NP_001159365.1|NP_071406.1|NP_775182.1 Q8IXF0 NPAS3_HUMAN neuronal PAS domain protein 3 355 PAS 2. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|signal transducer activity breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 40 Breast(36;0.0102)|Hepatocellular(127;0.133) LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968) GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115) TGATTATATGGATCTGACCCC 0.418000 8 47 0 0 1 0 0 PCDHGA12 26025 broad.mit.edu 37 5 140884972 140884972 + Silent SNP C C T TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr5:140884972C>T ENST00000252085.3 + 3 2638 c.2496C>T c.(2494-2496)ggC>ggT p.G832G PCDHGA11_ENST00000518882.1_Silent_p.G650G|PCDHGC4_ENST00000306593.1_Silent_p.G838G|PCDHGB3_ENST00000576222.1_Silent_p.G829G|PCDHGA4_ENST00000571252.1_Silent_p.G831G|PCDHGB1_ENST00000523390.1_Silent_p.G827G|PCDHGA7_ENST00000518325.1_Silent_p.G832G|PCDHGB2_ENST00000522605.1_Silent_p.G831G|PCDHGB6_ENST00000520790.1_Silent_p.G830G|PCDHGB4_ENST00000519479.1_Silent_p.G823G|PCDHGA11_ENST00000398587.2_Silent_p.G835G|PCDHGA5_ENST00000518069.1_Silent_p.G831G|PCDHGB7_ENST00000398594.2_Silent_p.G829G|PCDHGA8_ENST00000398604.2_Silent_p.G832G|PCDHGA9_ENST00000573521.1_Silent_p.G832G|PCDHGC3_ENST00000308177.3_Silent_p.G834G|PCDHGA1_ENST00000517417.1_Silent_p.G831G|PCDHGA2_ENST00000394576.2_Silent_p.G832G|PCDHGC5_ENST00000252087.1_Silent_p.G844G|PCDHGA3_ENST00000253812.6_Silent_p.G832G|PCDHGA10_ENST00000398610.2_Silent_p.G836G|PCDHGA6_ENST00000517434.1_Silent_p.G832G NM_003735.2|NM_032094.1 NP_003726.1|NP_115265.1 breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1) 58 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCCAAAATGGCGATGACACCG 0.587000 33 127 0 0 1 0 0 DNER 92737 broad.mit.edu 37 2 230456481 230456481 + Missense_Mutation SNP G G T TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr2:230456481G>T ENST00000341772.4 - 2 534 c.400C>A c.(400-402)Cag>Aag p.Q134K NM_139072.3 NP_620711.3 Q8NFT8 DNER_HUMAN delta/notch-like EGF repeat containing 134 central nervous system development|endocytosis|neuron migration|Notch signaling pathway|synapse assembly dendrite|early endosome|integral to membrane|plasma membrane calcium ion binding|clathrin binding|transmembrane receptor activity NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 63 all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175) Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375) GGAAGTGCCTGTTCACAGTTG 0.572000 20 51 2.54575e-18 3.56722e-18 1 1 0 UBBP4 23666 broad.mit.edu 37 17 21731066 21731066 + Missense_Mutation SNP G G T TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr17:21731066G>T ENST00000584755.1 + 2 765 c.368G>T c.(367-369)gGc>gTc p.G123V UBBP4_ENST00000583708.1_3'UTR|UBBP4_ENST00000584398.1_3'UTR|UBBP4_ENST00000578713.1_Missense_Mutation_p.G123V endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4) 24 ATCTTTGCAGGCAAGCAGCTG 0.537000 11 69 0.00244969 0.00257581 1 1 0 MEFV 4210 broad.mit.edu 37 16 3293510 3293510 + Silent SNP A A T TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr16:3293510A>T ENST00000219596.1 - 10 2016 c.1977T>A c.(1975-1977)gtT>gtA p.V659V MEFV_ENST00000541159.1_3'UTR|MEFV_ENST00000536379.1_Silent_p.V448V|MEFV_ENST00000339854.4_Silent_p.V479V NM_000243.2 NP_000234.1 O15553 MEFV_HUMAN Mediterranean fever 659 B30.2/SPRY. inflammatory response cytoplasm|microtubule|microtubule associated complex|nucleus actin binding|zinc ion binding NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6) 50 Colchicine(DB01394) TCTTGTCTCCAACCTCCACCT 0.547000 33 109 0 0 1 0 0 C11orf87 399947 broad.mit.edu 37 11 109294455 109294455 + Missense_Mutation SNP C C A TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr11:109294455C>A ENST00000327419.6 + 2 499 c.96C>A c.(94-96)aaC>aaA p.N32K RP11-708B6.2_ENST00000532992.1_RNA|RP11-708B6.2_ENST00000532929.1_RNA NM_207645.3 NP_997528.2 Q6NUJ2 CK087_HUMAN chromosome 11 open reading frame 87 32 integral to membrane breast(2)|endometrium(1)|large_intestine(5)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1) 17 GCAGCGGCAACACGGGTGCCC 0.677000 9 26 0.00448238 0.00466944 1 1 0 MYH10 4628 broad.mit.edu 37 17 8455463 8455463 + Splice_Site SNP C C G TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr17:8455463C>G ENST00000360416.3 - 9 959 c.e9-1 MYH10_ENST00000379980.4_Splice_Site|MYH10_ENST00000269243.4_Splice_Site|MYH10_ENST00000396239.1_Splice_Site NM_001256012.1 NP_001242941.1 P35580 MYH10_HUMAN myosin, heavy chain 10, non-muscle actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape cell cortex|cleavage furrow|midbody|myosin complex|stress fiber actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1) 52 TCCAGAAGGTCTGAGCAAAGA 0.328000 3 18 0 0 1 0 0 C7orf31 136895 broad.mit.edu 37 7 25182360 25182360 + Missense_Mutation SNP G G C TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr7:25182360G>C ENST00000409280.1 - 8 1066 c.758C>G c.(757-759)tCt>tGt p.S253C C7orf31_ENST00000283905.3_Missense_Mutation_p.S253C Q8N865 CG031_HUMAN chromosome 7 open reading frame 31 253 autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|skin(2)|stomach(1) 14 TGAATTTAAAGAAGTGTTAGG 0.393000 10 55 0 0 1 0 0 PAX1 5075 broad.mit.edu 37 20 21687013 21687013 + Missense_Mutation SNP C C T TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr20:21687013C>T ENST00000444366.2 + 1 153 c.152C>T c.(151-153)cCc>cTc p.P51L PAX1_ENST00000398485.2_Intron|PAX1_ENST00000460221.1_Intron P15863 PAX1_HUMAN paired box 1 76 regulation of transcription, DNA-dependent|skeletal system development|transcription from RNA polymerase II promoter nucleus DNA binding autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(21)|prostate(3)|skin(1)|upper_aerodigestive_tract(3) 38 GCGTGGGGACCCTTGGCTAAC 0.657000 13 53 0 0 1 0 0 MDC1 9656 broad.mit.edu 37 6 30672671 30672671 + Missense_Mutation SNP G G C TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr6:30672671G>C ENST00000376406.3 - 10 4936 c.4289C>G c.(4288-4290)tCt>tGt p.S1430C MDC1_ENST00000376405.2_Missense_Mutation_p.S1166C|MDC1-AS1_ENST00000442150.1_RNA NM_014641.2 NP_055456.2 Q14676 MDC1_HUMAN mediator of DNA-damage checkpoint 1 1430 Interaction with the PRKDC complex.|Pro-rich. cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint focal adhesion|nucleoplasm FHA domain binding|protein C-terminus binding breast(2)|kidney(1)|ovary(1) 4 GGTGGCCTGAGATGTGGGCTC 0.577000 Other conserved DNA damage response genes 19 199 0 0 1 0 0 TAS2R39 259285 broad.mit.edu 37 7 142880610 142880610 + Silent SNP C C A TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr7:142880610C>A ENST00000446620.1 + 1 99 c.99C>A c.(97-99)ctC>ctA p.L33L NM_176881.2 NP_795362.2 P59534 T2R39_HUMAN taste receptor, type 2, member 39 33 sensory perception of taste integral to membrane G-protein coupled receptor activity breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 20 Melanoma(164;0.059) CGCCATTTCTCATCACCTTAA 0.398000 7 48 2.0095e-06 2.34325e-06 1 1 0 MCF2L2 23101 broad.mit.edu 37 3 183006981 183006981 + Missense_Mutation SNP G G C TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr3:183006981G>C ENST00000328913.3 - 14 2000 c.1703C>G c.(1702-1704)tCt>tGt p.S568C MCF2L2_ENST00000473233.1_Missense_Mutation_p.S568C|MCF2L2_ENST00000447025.2_Missense_Mutation_p.S568C|MCF2L2_ENST00000414362.2_Missense_Mutation_p.S568C|B3GNT5_ENST00000462559.1_Intron NM_015078.2 NP_055893.2 Q86YR7 MF2L2_HUMAN MCF.2 cell line derived transforming sequence-like 2 568 regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 72 all_cancers(143;1.26e-12)|Ovarian(172;0.0355) all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21) AGGTTCCTCAGACGTTCTCAG 0.393000 4 39 0 0 1 0 0 CNTLN 54875 broad.mit.edu 37 9 17273806 17273806 + Missense_Mutation SNP C C A TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr9:17273806C>A ENST00000380647.3 + 6 1009 c.925C>A c.(925-927)Cag>Aag p.Q309K CNTLN_ENST00000425824.1_Missense_Mutation_p.Q309K|CNTLN_ENST00000262360.5_Missense_Mutation_p.Q309K|CNTLN_ENST00000380641.4_Missense_Mutation_p.Q309K Q9NXG0 CNTLN_HUMAN centlein, centrosomal protein 309 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) TCTATCATTACAGTTGAGTAA 0.303000 14 39 0.000219431 0.000240483 1 1 0 TRRAP 8295 broad.mit.edu 37 7 98586467 98586467 + Missense_Mutation SNP G G A TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr7:98586467G>A ENST00000359863.4 + 62 9690 c.9481G>A c.(9481-9483)Gac>Aac p.D3161N TRRAP_ENST00000446306.3_Missense_Mutation_p.D3132N|TRRAP_ENST00000355540.3_Missense_Mutation_p.D3132N NM_001244580.1 NP_001231509.1 Q9Y4A5 TRRAP_HUMAN transformation/transcription domain-associated protein 3161 FAT. histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2) 176 all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274) STAD - Stomach adenocarcinoma(171;0.215) CATGTGGGGCGACTACCTGGA 0.582000 17 90 0 0 1 0 0 STRN3 29966 broad.mit.edu 37 14 31382750 31382750 + Missense_Mutation SNP C C T TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr14:31382750C>T ENST00000355683.5 - 8 1317 c.1102G>A c.(1102-1104)Gat>Aat p.D368N STRN3_ENST00000357479.5_Missense_Mutation_p.D452N|STRN3_ENST00000366206.2_Intron NM_014574.3 NP_055389.3 Q13033 STRN3_HUMAN striatin, calmodulin binding protein 3 373 negative regulation of estrogen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|response to estradiol stimulus cytoplasm|dendrite|Golgi apparatus|neuronal cell body|nucleoplasm|nucleus|plasma membrane|protein complex armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 20 Hepatocellular(127;0.0877)|Breast(36;0.148) LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805) GBM - Glioblastoma multiforme(265;0.0124) TAGTCTGCATCATTTGTTACC 0.338000 8 45 0 0 1 0 0 ATP7B 540 broad.mit.edu 37 13 52542718 52542718 + Silent SNP C C T TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr13:52542718C>T ENST00000242839.4 - 4 1725 c.1569G>A c.(1567-1569)ttG>ttA p.L523L ATP7B_ENST00000482841.1_5'UTR|ATP7B_ENST00000448424.2_Silent_p.L523L|ATP7B_ENST00000400370.3_Intron|ATP7B_ENST00000400366.3_Silent_p.L412L|ATP7B_ENST00000344297.5_Silent_p.L523L|ATP7B_ENST00000418097.2_Silent_p.L523L|ATP7B_ENST00000542656.1_Intron NM_000053.3 NP_000044.2 P35670 ATP7B_HUMAN ATPase, Cu++ transporting, beta polypeptide 523 HMA 5. ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion Golgi membrane|integral to plasma membrane|late endosome|mitochondrion ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2) 55 Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19) GBM - Glioblastoma multiforme(99;5.25e-08) TTCCTGCCATCAAGGCAACCA 0.532000 Wilson disease 7 50 0 0 1 0 0 ASTN2 23245 broad.mit.edu 37 9 119582943 119582943 + Silent SNP C C A TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr9:119582943C>A ENST00000313400.4 - 12 2260 c.2160G>T c.(2158-2160)ctG>ctT p.L720L ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000361209.2_Silent_p.L669L|ASTN2_ENST00000373996.3_Silent_p.L716L O75129 ASTN2_HUMAN astrotactin 2 720 EGF-like 3. integral to membrane breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1) 102 AGGGCAGGGGCAGCGTCTGCT 0.582000 33 103 6.50621e-10 8.4493e-10 1 1 0 HMCES 56941 broad.mit.edu 37 3 129009527 129009527 + Silent SNP T T A TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr3:129009527T>A ENST00000383463.4 + 4 422 c.333T>A c.(331-333)ccT>ccA p.P111P C3orf37_ENST00000502878.2_Silent_p.P111P|C3orf37_ENST00000417226.2_Intron|C3orf37_ENST00000389735.3_Silent_p.P111P NM_020187.2 NP_064572.2 Q96FZ2 CC037_HUMAN 111 breast(1)|endometrium(1)|kidney(2)|lung(5)|ovary(1)|urinary_tract(4) 14 CTCAGGTGCCTCTGGGAAAGG 0.438000 8 82 0 0 1 0 0 DPT 1805 broad.mit.edu 37 1 168698317 168698317 + Silent SNP G G A TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr1:168698317G>A ENST00000367817.3 - 1 185 c.96C>T c.(94-96)gaC>gaT p.D32D NM_001937.4 NP_001928.2 Q07507 DERM_HUMAN dermatopontin 32 2 X 53-55 AA tandem repeats. cell adhesion extracellular space|proteinaceous extracellular matrix kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2) 12 all_hematologic(923;0.208) CATCGCTGTAGTCATGATACT 0.552000 6 49 0 0 1 0 0 BTBD10 84280 broad.mit.edu 37 11 13438790 13438790 + Missense_Mutation SNP C C A TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr11:13438790C>A ENST00000278174.5 - 5 847 c.602G>T c.(601-603)cGa>cTa p.R201L BTBD10_ENST00000530907.1_Missense_Mutation_p.R209L|BTBD10_ENST00000528120.1_Missense_Mutation_p.R153L NM_032320.5 NP_115696.2 Q9BSF8 BTBDA_HUMAN BTB (POZ) domain containing 10 201 BTB. nucleus p.R201Q(1) cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|prostate(1) 20 Epithelial(150;0.0214) GTTATGTTCTCGGCCAGATCC 0.373000 39 144 8.16277e-20 1.15099e-19 1 1 0 C1R 715 broad.mit.edu 37 12 7188375 7188375 + Missense_Mutation SNP C C T TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr12:7188375C>T ENST00000542285.1 - 11 1572 c.1423G>A c.(1423-1425)Gaa>Aaa p.E475K P00736 C1R_HUMAN complement component 1, r subcomponent 527 Peptidase S1. complement activation, classical pathway|innate immune response|proteolysis extracellular region calcium ion binding|serine-type endopeptidase activity endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|pancreas(1) 16 Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072) ATGAGCTCTTCCACATTTGTG 0.567000 10 94 0 0 1 0 0 PCDHGB3 56102 broad.mit.edu 37 5 140750780 140750780 + Missense_Mutation SNP C C G TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr5:140750780C>G ENST00000576222.1 + 1 950 c.819C>G c.(817-819)atC>atG p.I273M PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron NM_018924.2|NM_032097.1 NP_061747.1|NP_115268.1 endometrium(1)|kidney(1)|lung(3) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ATGAGGGCATCAATGCCGAAA 0.468000 12 95 0 0 1 0 0 OLFML2B 25903 broad.mit.edu 37 1 161954721 161954721 + Missense_Mutation SNP G G C TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr1:161954721G>C ENST00000294794.3 - 7 1947 c.1524C>G c.(1522-1524)aaC>aaG p.N508K OLFML2B_ENST00000367940.2_Missense_Mutation_p.N509K|OLFML2B_ENST00000367938.1_5'UTR NM_015441.1 NP_056256.1 Q68BL8 OLM2B_HUMAN olfactomedin-like 2B 508 Olfactomedin-like. breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 all_hematologic(112;0.156) BRCA - Breast invasive adenocarcinoma(70;0.0172) GCCCATATGTGTTCTGGGTGG 0.547000 13 99 0 0 1 0 0 MBD3L1 85509 broad.mit.edu 37 19 8953464 8953464 + Missense_Mutation SNP G G A TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr19:8953464G>A ENST00000595891.1 + 3 341 c.110G>A c.(109-111)aGg>aAg p.R37K MBD3L1_ENST00000305625.2_Missense_Mutation_p.R37K Q8WWY6 MB3L1_HUMAN methyl-CpG binding domain protein 3-like 1 37 Transcription repressor. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus NS(1)|cervix(1)|large_intestine(5)|liver(1)|lung(2)|skin(2) 12 ACATTCAAGAGGCCAGTAACG 0.493000 23 33 0 0 1 0 0 PAQR9 344838 broad.mit.edu 37 3 142681360 142681360 + Silent SNP G G T TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr3:142681360G>T ENST00000340634.3 - 1 818 c.819C>A c.(817-819)ctC>ctA p.L273L NM_198504.2 NP_940906.1 Q6ZVX9 PAQR9_HUMAN progestin and adipoQ receptor family member IX 273 integral to membrane receptor activity endometrium(2)|large_intestine(7)|lung(12)|prostate(1) 22 AGTGCACGAAGAGTGTGGGGT 0.607000 25 92 1.85244e-09 2.37818e-09 1 1 0 HGF 3082 broad.mit.edu 37 7 81358947 81358947 + Missense_Mutation SNP G G T TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr7:81358947G>T ENST00000222390.5 - 8 1240 c.1014C>A c.(1012-1014)gaC>gaA p.D338E HGF_ENST00000457544.2_Missense_Mutation_p.D333E NM_000601.4 NP_000592.3 P14210 HGF_HUMAN hepatocyte growth factor (hepapoietin A; scatter factor) 338 Kringle 3. epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling platelet alpha granule lumen growth factor activity|serine-type endopeptidase activity NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1) 75 CAGGAGTCATGTCATGCTCGT 0.438000 14 48 1.49906e-05 1.70382e-05 1 1 0 SLC4A1 6521 broad.mit.edu 37 17 42338086 42338086 + Missense_Mutation SNP C C A TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr17:42338086C>A ENST00000262418.6 - 5 421 c.266G>T c.(265-267)gGg>gTg p.G89V SLC4A1_ENST00000471005.1_5'UTR|AC003043.1_ENST00000597382.1_Intron NM_000342.3 NP_000333.1 P02730 B3AT_HUMAN solute carrier family 4 (anion exchanger), member 1 89 bicarbonate transport|cellular ion homeostasis basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane|Z disc ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1) 40 Breast(137;0.014)|Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.115) CCCATTCTCCCCCAGGTTCTC 0.632000 7 81 3.09899e-07 3.7232e-07 1 1 0 RYR3 6263 broad.mit.edu 37 15 33936681 33936681 + Silent SNP G G A TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr15:33936681G>A ENST00000389232.4 + 28 3796 c.3726G>A c.(3724-3726)ccG>ccA p.P1242P RYR3_ENST00000415757.3_Silent_p.P1242P NM_001036.3 NP_001027.3 Q15413 RYR3_HUMAN ryanodine receptor 3 1242 4 X approximate repeats. cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3) 311 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) AGCGCCTCCCGACGTTTGTCA 0.512000 4 24 0 0 1 0 0 PRKAR2A 5576 broad.mit.edu 37 3 48810455 48810455 + Missense_Mutation SNP G G A TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr3:48810455G>A ENST00000265563.8 - 6 878 c.629C>T c.(628-630)gCt>gTt p.A210V PRKAR2A_ENST00000454963.1_Missense_Mutation_p.A210V|PRKAR2A_ENST00000296446.8_Missense_Mutation_p.A210V NM_004157.2 NP_004148.1 P13861 KAP2_HUMAN protein kinase, cAMP-dependent, regulatory, type II, alpha 210 activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|intracellular signal transduction|nerve growth factor receptor signaling pathway|regulation of insulin secretion|transmembrane transport|water transport centrosome|cytosol|membrane fraction cAMP binding|cAMP-dependent protein kinase regulator activity SLC26A6/PRKAR2A(2) breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|ovary(1) 6 BRCA - Breast invasive adenocarcinoma(193;0.000176)|Kidney(197;0.00246)|KIRC - Kidney renal clear cell carcinoma(197;0.00261) GTACATCAGAGCTAGTTCTCC 0.463000 12 58 0 0 1 0 0 RYR1 6261 broad.mit.edu 37 19 38976739 38976739 + Missense_Mutation SNP T T A TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr19:38976739T>A ENST00000355481.4 + 34 5575 c.5444T>A c.(5443-5445)cTg>cAg p.L1815Q RYR1_ENST00000360985.3_Missense_Mutation_p.L1815Q|RYR1_ENST00000359596.3_Missense_Mutation_p.L1815Q NM_000540.2|NM_001042723.1 NP_000531.2|NP_001036188.1 P21817 RYR1_HUMAN ryanodine receptor 1 (skeletal) 1815 6 X approximate repeats. muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7) 285 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) CTGAGGATGCTGGGGGAGGCG 0.716000 59 85 0 0 1 0 0 KIF21B 23046 broad.mit.edu 37 1 200959747 200959747 + Missense_Mutation SNP A A G TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr1:200959747A>G ENST00000332129.2 - 19 3108 c.2792T>C c.(2791-2793)aTg>aCg p.M931T KIF21B_ENST00000461742.2_Missense_Mutation_p.M931T|KIF21B_ENST00000360529.5_Missense_Mutation_p.M931T|KIF21B_ENST00000422435.2_Missense_Mutation_p.M931T NM_001252102.1|NM_001252103.1|NM_017596.3 NP_001239031.1|NP_001239032.1|NP_060066.2 O75037 KI21B_HUMAN kinesin family member 21B 931 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2) 83 GACAATGGTCATTCTCTGCAT 0.577000 5 43 0 0 1 0 0 HMGCLL1 54511 broad.mit.edu 37 6 55406867 55406867 + Missense_Mutation SNP C C G TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr6:55406867C>G ENST00000398661.2 - 3 401 c.270G>C c.(268-270)caG>caC p.Q90H HMGCLL1_ENST00000370850.2_Missense_Mutation_p.Q60H|HMGCLL1_ENST00000308161.4_Missense_Mutation_p.Q60H|HMGCLL1_ENST00000428842.1_Missense_Mutation_p.Q60H|HMGCLL1_ENST00000508459.1_Missense_Mutation_p.Q60H|HMGCLL1_ENST00000274901.4_Missense_Mutation_p.Q60H NM_019036.2 NP_061909.2 Q8TB92 HMGC2_HUMAN 3-hydroxymethyl-3-methylglutaryl-CoA lyase-like 1 90 hydroxymethylglutaryl-CoA lyase activity|metal ion binding breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 31 Lung NSC(77;0.0875) LUSC - Lung squamous cell carcinoma(124;0.23) CCTTTTCATTCTGCAATCCAT 0.313000 8 28 0 0 1 0 0 PTCH1 5727 broad.mit.edu 37 9 98209480 98209480 + Missense_Mutation SNP G G A TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr9:98209480G>A ENST00000430669.2 - 23 4445 c.3860C>T c.(3859-3861)gCg>gTg p.A1287V PTCH1_ENST00000331920.6_Missense_Mutation_p.A1353V|PTCH1_ENST00000375274.2_Missense_Mutation_p.A1352V|PTCH1_ENST00000421141.1_Missense_Mutation_p.A1202V|PTCH1_ENST00000418258.1_Missense_Mutation_p.A1202V|PTCH1_ENST00000429896.2_Missense_Mutation_p.A1202V|PTCH1_ENST00000437951.1_Missense_Mutation_p.A1287V Q13635 PTC1_HUMAN patched 1 1353 embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway integral to plasma membrane hedgehog receptor activity NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1) 490 Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136) GGCAGTGGACGCTGGGTTCCG 0.647000 7 68 0 0 1 0 0 MSRA 4482 broad.mit.edu 37 8 10285782 10285782 + Missense_Mutation SNP G G T TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr8:10285782G>T ENST00000528246.1 + 7 1093 c.470G>T c.(469-471)gGg>gTg p.G157V MSRA_ENST00000317173.4_Missense_Mutation_p.G223V|MSRA_ENST00000382490.5_Missense_Mutation_p.G180V|MSRA_ENST00000441698.2_Missense_Mutation_p.G183V NM_001199729.1 NP_001186658.1 Q9UJ68 MSRA_HUMAN methionine sulfoxide reductase A 223 methionine metabolic process|protein modification process|response to oxidative stress mitochondrion|nucleus peptide-methionine-(S)-S-oxide reductase activity central_nervous_system(1)|endometrium(2)|kidney(1)|lung(4) 8 Myeloproliferative disorder(644;0.178) L-Methionine(DB00134) TGCGGCCTTGGGGGCACCGGC 0.522000 7 63 5.50884e-06 6.34693e-06 1 1 0 COL6A5 256076 broad.mit.edu 37 3 130095080 130095080 + Splice_Site SNP G G T TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr3:130095080G>T ENST00000265379.6 + 3 562 c.67_splice c.e3-1 p.G23_splice COL6A5_ENST00000432398.2_Splice_Site_p.G23_splice A8TX70 CO6A5_HUMAN collagen, type VI, alpha 5 23 Nonhelical region. axon guidance|cell adhesion collagen endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1) 44 ATTTTGATAGGGCCAGGCCCT 0.388000 4 36 0.00909568 0.00943152 1 1 0 KCNIP2 30819 broad.mit.edu 37 10 103587744 103587744 + Missense_Mutation SNP G G A TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr10:103587744G>A ENST00000358038.3 - 7 901 c.550C>T c.(550-552)Ctt>Ttt p.L184F KCNIP2_ENST00000356640.2_Missense_Mutation_p.L202F|KCNIP2_ENST00000355657.2_5'UTR|KCNIP2_ENST00000353068.3_Missense_Mutation_p.L159F|KCNIP2_ENST00000343195.4_Missense_Mutation_p.L152F|KCNIP2-AS1_ENST00000412353.1_RNA|KCNIP2_ENST00000461105.1_Missense_Mutation_p.L217F|KCNIP2_ENST00000370046.1_Missense_Mutation_p.L116F|KCNIP2_ENST00000348850.5_Missense_Mutation_p.L157F NM_173192.2|NM_173193.2|NM_173195.2 NP_775284.1|NP_775285.1|NP_775287.1 Q9NS61 KCIP2_HUMAN Kv channel interacting protein 2 202 EF-hand 3. clustering of voltage-gated potassium channels|detection of calcium ion|muscle contraction|regulation of heart contraction|signal transduction|synaptic transmission cytoplasm|voltage-gated potassium channel complex A-type (transient outward) potassium channel activity|calcium ion binding|ER retention sequence binding|identical protein binding|protein N-terminus binding central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 11 Colorectal(252;0.122) Epithelial(162;4.93e-09)|all cancers(201;2.63e-07) ATGATGTCAAGCATTTCCTGT 0.537000 28 41 0 0 1 0 0 CDC40 51362 broad.mit.edu 37 6 110541042 110541042 + Missense_Mutation SNP C C G TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr6:110541042C>G ENST00000368932.1 + 13 1411 c.1310C>G c.(1309-1311)tCt>tGt p.S437C CDC40_ENST00000307731.1_Missense_Mutation_p.S437C|CDC40_ENST00000368933.1_Missense_Mutation_p.S437C|CDC40_ENST00000368930.1_Missense_Mutation_p.S437C O60508 PRP17_HUMAN cell division cycle 40 437 mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription catalytic step 2 spliceosome|nucleoplasm breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1) 18 all_cancers(87;6.23e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488) Epithelial(106;0.0221)|all cancers(137;0.0314)|OV - Ovarian serous cystadenocarcinoma(136;0.034) GTGAGCACATCTGATGATAAA 0.368000 5 52 0 0 1 0 0 PCDHB7 56129 broad.mit.edu 37 5 140554630 140554630 + Missense_Mutation SNP C C G TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr5:140554630C>G ENST00000231137.3 + 1 2388 c.2214C>G c.(2212-2214)agC>agG p.S738R NM_018940.2 NP_061763.1 Q9Y5E2 PCDB7_HUMAN 738 calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.S738R(1) NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1) 119 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TGGACTTGAGCGGCACCGGGA 0.617000 18 166 0 0 1 0 0 IL31RA 133396 broad.mit.edu 37 5 55212826 55212826 + Missense_Mutation SNP A A G TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr5:55212826A>G ENST00000447346.2 + 15 2238 c.2173A>G c.(2173-2175)Agt>Ggt p.S725G IL31RA_ENST00000490985.1_Missense_Mutation_p.S583G|IL31RA_ENST00000354961.4_Intron|IL31RA_ENST00000396834.1_Intron|IL31RA_ENST00000359040.5_Intron NM_001242636.1|NM_139017.5 NP_001229565.1|NP_620586.3 Q8NI17 IL31R_HUMAN interleukin 31 receptor A 693 anti-apoptosis|defense response|homeostatic process|JAK-STAT cascade|macrophage differentiation|MAPKKK cascade|monocyte differentiation|negative regulation of macrophage activation|positive regulation of cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|transmembrane receptor protein tyrosine kinase signaling pathway integral to membrane|plasma membrane cytokine receptor activity|protein kinase binding|transcription coactivator activity endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|stomach(1) 21 Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223) TTCTGGTCAAAGTTTAGTACC 0.468000 14 58 0 0 1 0 0 PIM2 11040 broad.mit.edu 37 X 48775900 48775900 + Silent SNP G G A TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chrX:48775900G>A ENST00000376509.4 - 2 273 c.84C>T c.(82-84)ttC>ttT p.F28F NM_006875.3 NP_006866.2 Q9P1W9 PIM2_HUMAN pim-2 oncogene 28 anti-apoptosis|cell proliferation|male meiosis|positive regulation of autophagy|positive regulation of I-kappaB kinase/NF-kappaB cascade|response to virus ATP binding|protein serine/threonine kinase activity lung(3)|stomach(1) 4 ACTCGGCCTCGAACGCTTCCC 0.667000 6 45 0 0 1 0 0 DNAH3 55567 broad.mit.edu 37 16 20966286 20966286 + Silent SNP C C A TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr16:20966286C>A ENST00000261383.3 - 55 10919 c.10920G>T c.(10918-10920)cgG>cgT p.R3640R DNAH3_ENST00000415178.1_3'UTR NM_017539.1 NP_060009.1 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 3640 AAA 6 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6) 202 GBM - Glioblastoma multiforme(48;0.207) ACAGGTTGGCCCGGAGCCCTT 0.507000 20 119 7.45023e-12 9.98301e-12 1 1 0 PRDM9 56979 broad.mit.edu 37 5 23509685 23509685 + Missense_Mutation SNP A A T TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr5:23509685A>T ENST00000296682.3 + 3 358 c.176A>T c.(175-177)aAt>aTt p.N59I NM_020227.2 NP_064612.2 Q9NQV7 PRDM9_HUMAN PR domain containing 9 59 KRAB-related. 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 AGGAACTATAATGCACTGATT 0.433000 HNSCC(3;0.000094) 7 77 0 0 1 0 0 GPR111 222611 broad.mit.edu 37 6 47649162 47649162 + Missense_Mutation SNP C C G TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr6:47649162C>G ENST00000398742.2 + 5 712 c.663C>G c.(661-663)ttC>ttG p.F221L GPR111_ENST00000296862.1_Missense_Mutation_p.F289L|GPR111_ENST00000507065.1_Missense_Mutation_p.F221L Q8IZF7 GP111_HUMAN G protein-coupled receptor 111 289 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(15)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 29 CAGATGTCTTCATTCATACTA 0.378000 15 65 0 0 1 0 0 LRRC40 55631 broad.mit.edu 37 1 70654905 70654905 + Missense_Mutation SNP T T C TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr1:70654905T>C ENST00000370952.3 - 2 282 c.203A>G c.(202-204)cAg>cGg p.Q68R NM_017768.4 NP_060238.3 Q9H9A6 LRC40_HUMAN leucine rich repeat containing 40 68 breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(2) 27 CGAAAGATTCTGATTAGCTTC 0.383000 8 62 0 0 1 0 0 HLTF 6596 broad.mit.edu 37 3 148759384 148759384 + Missense_Mutation SNP C C G TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr3:148759384C>G ENST00000310053.5 - 20 2462 c.2269G>C c.(2269-2271)Gat>Cat p.D757H HLTF_ENST00000392912.2_Missense_Mutation_p.D757H|HLTF_ENST00000494055.1_Missense_Mutation_p.D757H|HLTF_ENST00000465259.1_Missense_Mutation_p.D756H NM_003071.3|NM_139048.2 NP_003062.2|NP_620636.1 Q14527 HLTF_HUMAN helicase-like transcription factor 757 chromatin modification|transcription, DNA-dependent nucleus ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 47 LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607) CATTCCTCATCTGAACCTGAG 0.353000 17 80 0 0 1 0 0 ITIH6 347365 broad.mit.edu 37 X 54784519 54784519 + Missense_Mutation SNP G G T TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chrX:54784519G>T ENST00000218436.6 - 8 2017 c.1988C>A c.(1987-1989)cCt>cAt p.P663H NM_198510.2 NP_940912.1 Q6UXX5 ITH5L_HUMAN inter-alpha-trypsin inhibitor heavy chain family, member 6 663 hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity TGGTTTCACAGGCCTTGATTT 0.532000 13 52 1.02788e-11 1.36646e-11 1 1 0 ADPRM 56985 broad.mit.edu 37 17 10608316 10608316 + Missense_Mutation SNP G G A TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr17:10608316G>A ENST00000379774.4 + 2 164 c.73G>A c.(73-75)Gat>Aat p.D25N ADPRM_ENST00000527582.2_Missense_Mutation_p.D25N NM_020233.4 NP_064618.3 ADP-ribose/CDP-alcohol diphosphatase, manganese-dependent CGTCATCGCAGATGTTCAATT 0.428000 8 104 0 0 1 0 0 ERV3-1 2086 broad.mit.edu 37 7 64452801 64452801 + Missense_Mutation SNP G G C TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr7:64452801G>C ENST00000394323.2 - 2 1104 c.604C>G c.(604-606)Ctt>Gtt p.L202V NM_001007253.3 NP_001007254.2 Q14264 ENR1_HUMAN 202 virion breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(8) 16 aagatggtaagatttacagaa 0.448000 16 234 0 0 1 0 0 AEBP1 165 broad.mit.edu 37 7 44147449 44147449 + Missense_Mutation SNP A A T TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr7:44147449A>T ENST00000223357.3 + 5 1086 c.781A>T c.(781-783)Agc>Tgc p.S261C NM_001129.3 NP_001120.3 Q8IUX7 AEBP1_HUMAN AE binding protein 1 261 Pro-rich. cell adhesion|muscle organ development|proteolysis|skeletal system development cytoplasm|extracellular space|nucleus DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2) 33 GCCACCCCCAAGCAGAAGGAG 0.682000 5 41 0 0 1 0 0 DNAH8 1769 broad.mit.edu 37 6 38783430 38783430 + Missense_Mutation SNP G G C TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr6:38783430G>C ENST00000359357.3 + 24 3123 c.2869G>C c.(2869-2871)Gaa>Caa p.E957Q DNAH8_ENST00000449981.2_Missense_Mutation_p.E1174Q|DNAH8_ENST00000441566.1_Missense_Mutation_p.E957Q dynein, axonemal, heavy chain 8 NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4) 260 GAAGAAGGAAGAAAGTAAGAA 0.378000 8 27 0 0 1 0 0 DHTKD1 55526 broad.mit.edu 37 10 12142258 12142258 + Missense_Mutation SNP C C G TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr10:12142258C>G ENST00000263035.4 + 9 1815 c.1753C>G c.(1753-1755)Caa>Gaa p.Q585E NM_018706.5 NP_061176.3 Q96HY7 DHTK1_HUMAN dehydrogenase E1 and transketolase domain containing 1 585 glycolysis mitochondrion oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1) 44 Renal(717;0.228) BRCA - Breast invasive adenocarcinoma(52;0.188) TTTACTTGCTCAAGGTAAGAA 0.453000 16 140 0 0 1 0 0 CCDC42 146849 broad.mit.edu 37 17 8638459 8638459 + Silent SNP C C T TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr17:8638459C>T ENST00000293845.3 - 6 1054 c.828G>A c.(826-828)gaG>gaA p.E276E CCDC42_ENST00000539522.2_Silent_p.E202E NM_144681.2 NP_653282.2 Q96M95 CCD42_HUMAN coiled-coil domain containing 42 276 kidney(1)|large_intestine(4)|lung(3)|ovary(1) 9 CCTCAGTCACCTCCTTCAGGT 0.617000 6 51 0 0 1 0 0 CDH12 1010 broad.mit.edu 37 5 21975434 21975434 + Missense_Mutation SNP C C G TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr5:21975434C>G ENST00000382254.1 - 6 1378 c.292G>C c.(292-294)Gct>Cct p.A98P CDH12_ENST00000504376.2_Missense_Mutation_p.A98P|CDH12_ENST00000522262.1_Missense_Mutation_p.A98P NM_004061.3 NP_004052.2 P55289 CAD12_HUMAN cadherin 12, type 2 (N-cadherin 2) 98 Cadherin 1. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 120 ACGGTGCCAGCGCCATCTCCT 0.483000 HNSCC(59;0.17) 21 100 0 0 1 0 0 OLFML3 56944 broad.mit.edu 37 1 114523872 114523872 + Silent SNP G G A rs142935158 byFrequency TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr1:114523872G>A ENST00000369551.1 + 4 930 c.642G>A c.(640-642)gaG>gaA p.E214E OLFML3_ENST00000491700.1_3'UTR|OLFML3_ENST00000393300.2_Silent_p.E214E|OLFML3_ENST00000320334.4_Silent_p.E234E Q9NRN5 OLFL3_HUMAN olfactomedin-like 3 234 Olfactomedin-like. multicellular organismal development extracellular region breast(1)|endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|skin(2)|urinary_tract(1) 14 Lung SC(450;0.184) all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) GAGGTGGTGAGATGGAGAACA 0.567000 6 76 0 0 1 0 0 TMEM215 401498 broad.mit.edu 37 9 32784571 32784571 + Silent SNP C C G TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr9:32784571C>G ENST00000342743.5 + 2 755 c.390C>G c.(388-390)tcC>tcG p.S130S NM_212558.2 NP_997723.2 Q68D42 TM215_HUMAN transmembrane protein 215 130 integral to membrane endometrium(4)|kidney(1)|large_intestine(3)|lung(2)|prostate(2) 12 GTGAGGTGTCCGTGGCCAGCT 0.622000 11 28 0 0 1 0 0 OR5T2 219464 broad.mit.edu 37 11 55999820 55999820 + Missense_Mutation SNP C C A TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr11:55999820C>A ENST00000313264.4 - 1 917 c.842G>T c.(841-843)gGa>gTa p.G281V NM_001004746.1 NP_001004746.1 Q8NGG2 OR5T2_HUMAN olfactory receptor, family 5, subfamily T, member 2 281 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(6)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(3) 41 Esophageal squamous(21;0.00448) TAGGTGAGCTCCACATGTGGA 0.433000 19 124 2.4624e-09 3.13142e-09 1 1 0 MLIP 90523 broad.mit.edu 37 6 53989568 53989568 + Missense_Mutation SNP G G A TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr6:53989568G>A ENST00000514921.1 + 3 630 c.517G>A c.(517-519)Gat>Aat p.D173N MLIP_ENST00000511744.1_3'UTR|MLIP_ENST00000358276.5_Missense_Mutation_p.D167N|MLIP_ENST00000370876.2_Missense_Mutation_p.D111N|MLIP_ENST00000370877.2_Missense_Mutation_p.D121N|MLIP_ENST00000274897.5_Missense_Mutation_p.D173N|MLIP_ENST00000509997.1_Missense_Mutation_p.D121N|MLIP_ENST00000502396.1_Missense_Mutation_p.D184N Q5VWP3 MLIP_HUMAN muscular LMNA-interacting protein 173 nuclear envelope|PML body protein binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(16)|ovary(8)|skin(4)|stomach(1)|urinary_tract(1) 34 TCTGGTCTCTGATGTAGTGCG 0.557000 7 47 0 0 1 0 0 NECAP1 25977 broad.mit.edu 37 12 8248226 8248226 + Missense_Mutation SNP C C T TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr12:8248226C>T ENST00000339754.5 + 7 784 c.706C>T c.(706-708)Cct>Tct p.P236S NM_015509.3 NP_056324.2 Q8NC96 NECP1_HUMAN NECAP endocytosis associated 1 236 endocytosis|protein transport clathrin coated vesicle membrane|plasma membrane p.P236T(1) cervix(1)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 10 Kidney(36;0.0915) TTCTCCTGCTCCTGTCACGAC 0.453000 14 93 0 0 1 0 0 GRM6 2916 broad.mit.edu 37 5 178417681 178417681 + Silent SNP G G A TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr5:178417681G>A ENST00000231188.5 - 4 1102 c.924C>T c.(922-924)agC>agT p.S308S GRM6_ENST00000517717.1_Silent_p.S308S NM_000843.3 NP_000834.2 O15303 GRM6_HUMAN glutamate receptor, metabotropic 6 308 detection of visible light|visual perception integral to plasma membrane NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1) 55 all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351) all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.245) TGGCTCCCCAGCTGTCTGAGC 0.672000 4 10 0 0 1 0 0 LPHN3 23284 broad.mit.edu 37 4 62800635 62800635 + Silent SNP G G A TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr4:62800635G>A ENST00000512091.1 + 13 2733 c.1986G>A c.(1984-1986)caG>caA p.Q662Q LPHN3_ENST00000508946.1_Silent_p.Q662Q|LPHN3_ENST00000506746.1_Silent_p.Q730Q|LPHN3_ENST00000504896.1_Silent_p.Q662Q|LPHN3_ENST00000509896.1_Silent_p.Q730Q|LPHN3_ENST00000508078.1_3'UTR|LPHN3_ENST00000545650.1_Silent_p.Q662Q|LPHN3_ENST00000507625.1_Silent_p.Q730Q|LPHN3_ENST00000514996.1_Silent_p.Q662Q|LPHN3_ENST00000514591.1_Silent_p.Q662Q|LPHN3_ENST00000508693.1_Silent_p.Q730Q|LPHN3_ENST00000514157.1_Silent_p.Q662Q|LPHN3_ENST00000506720.1_Silent_p.Q730Q|LPHN3_ENST00000507164.1_Silent_p.Q730Q|LPHN3_ENST00000506700.1_Silent_p.Q662Q|LPHN3_ENST00000511324.1_Silent_p.Q730Q Q9HAR2 LPHN3_HUMAN latrophilin 3 649 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|sugar binding breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1) 125 CGAGTGATCAGCTGCGTGCGG 0.468000 5 24 0 0 1 0 0 ZBTB6 10773 broad.mit.edu 37 9 125673695 125673695 + Missense_Mutation SNP G G C TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr9:125673695G>C ENST00000373659.3 - 2 745 c.657C>G c.(655-657)atC>atG p.I219M NM_006626.5 NP_006617.1 Q15916 ZBTB6_HUMAN zinc finger and BTB domain containing 6 219 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(1)|skin(1) 11 CTACATGAAGGATACAAATTT 0.408000 7 34 0 0 1 0 0 RELN 5649 broad.mit.edu 37 7 103341404 103341404 + Silent SNP T T C TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr7:103341404T>C ENST00000424685.2 - 9 1014 c.855A>G c.(853-855)ttA>ttG p.L285L RELN_ENST00000343529.5_Silent_p.L285L|RELN_ENST00000428762.1_Silent_p.L285L P78509 RELN_HUMAN reelin 285 axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2) 227 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) TCTTGGCATATAACACGATGA 0.343000 29 81 0 0 1 0 0 LRRIQ3 127255 broad.mit.edu 37 1 74492577 74492577 + Missense_Mutation SNP T T C TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr1:74492577T>C ENST00000354431.4 - 8 1986 c.1795A>G c.(1795-1797)Aga>Gga p.R599G LRRIQ3_ENST00000395089.1_Missense_Mutation_p.R599G NM_001105659.1 NP_001099129.1 A6PVS8 LRIQ3_HUMAN leucine-rich repeats and IQ motif containing 3 599 NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5) 73 TCTTGAAGTCTTTCACAGGCT 0.308000 5 18 0 0 1 0 0 THEG 51298 broad.mit.edu 37 19 375892 375892 + Missense_Mutation SNP C C T rs150179643 TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr19:375892C>T ENST00000342640.4 - 1 121 c.79G>A c.(79-81)Ggc>Agc p.G27S THEG_ENST00000346878.2_Missense_Mutation_p.G27S NM_016585.4 NP_057669.1 Q9P2T0 THEG_HUMAN theg spermatid protein 27 cell differentiation|chaperone-mediated protein complex assembly|multicellular organismal development|spermatogenesis nucleus protein binding p.G27S(1) NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)|soft_tissue(1) 29 all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228) 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) CGGGGGTCGCCGTCCTGCTCC 0.677000 22 46 0 0 1 0 0 PARP11 57097 broad.mit.edu 37 12 3921379 3921379 + Silent SNP G G A TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr12:3921379G>A ENST00000228820.4 - 8 1071 c.927C>T c.(925-927)gaC>gaT p.D309D PARP11_ENST00000397096.2_Intron|PARP11_ENST00000447133.3_Silent_p.D228D|PARP11_ENST00000427057.2_Silent_p.D228D|PARP11_ENST00000476985.1_Intron NM_020367.4 NP_065100.2 Q9NR21 PAR11_HUMAN poly (ADP-ribose) polymerase family, member 11 302 PARP catalytic. NAD+ ADP-ribosyltransferase activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(1) 17 all cancers(3;1.58e-07)|OV - Ovarian serous cystadenocarcinoma(31;0.00287)|GBM - Glioblastoma multiforme(3;0.0141)|COAD - Colon adenocarcinoma(12;0.0264) CCACACAGCTGTCATATAAAT 0.408000 7 89 0 0 1 0 0 CXorf67 340602 broad.mit.edu 37 X 51150645 51150645 + Missense_Mutation SNP C C G TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chrX:51150645C>G ENST00000342995.2 + 1 879 c.777C>G c.(775-777)agC>agG p.S259R chromosome X open reading frame 67 breast(1)|endometrium(4)|large_intestine(1)|lung(11)|ovary(3)|prostate(1) 21 CTCGTCTAAGCCCTGAATCTG 0.701000 6 12 0 0 1 0 0 HTT 3064 broad.mit.edu 37 4 3117083 3117083 + Missense_Mutation SNP G G A TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr4:3117083G>A ENST00000355072.5 + 7 945 c.800G>A c.(799-801)cGg>cAg p.R267Q NM_002111.6 NP_002102.4 P42858 HD_HUMAN huntingtin 267 establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 87 all_epithelial(65;0.18) UCEC - Uterine corpus endometrioid carcinoma (64;0.187) CCCACCATTCGGCGGACAGCG 0.468000 6 70 0 0 1 0 0 MICALCL 84953 broad.mit.edu 37 11 12315811 12315811 + Missense_Mutation SNP G G A TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr11:12315811G>A ENST00000256186.2 + 3 1124 c.833G>A c.(832-834)cGa>cAa p.R278Q NM_032867.2 NP_116256.2 Q6ZW33 MICLK_HUMAN MICAL C-terminal like 278 cell differentiation|multicellular organismal development|spermatogenesis cytoplasm mitogen-activated protein kinase binding breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1) 30 Epithelial(150;0.00177) AATGCCATCCGAAGGTCTCTA 0.607000 12 81 0 0 1 0 0 NUTM2A-AS1 728190 broad.mit.edu 37 10 88975783 88975783 + RNA SNP C C T rs28533204 by1000genomes TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr10:88975783C>T ENST00000451940.2 - 0 600 CGCGGTCAGGCTGAGGCTAGC 0.597000 4 40 0 0 1 0 0 IL12RB2 3595 broad.mit.edu 37 1 67795367 67795367 + Silent SNP T T A TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr1:67795367T>A ENST00000262345.1 + 6 1402 c.762T>A c.(760-762)ctT>ctA p.L254L IL12RB2_ENST00000371000.1_Silent_p.L254L|IL12RB2_ENST00000544434.1_Silent_p.L254L|IL12RB2_ENST00000541374.1_Silent_p.L254L NM_001559.2 NP_001550.1 Q99665 I12R2_HUMAN interleukin 12 receptor, beta 2 254 Fibronectin type-III 2. positive regulation of cell proliferation|positive regulation of interferon-gamma production integral to plasma membrane cytokine receptor activity breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(21)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 45 TGGTACTGCTTAATCGACTCA 0.428000 11 72 0 0 1 0 0 ALOX5 240 broad.mit.edu 37 10 45891371 45891371 + Missense_Mutation SNP C C A TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr10:45891371C>A ENST00000374391.2 + 3 471 c.418C>A c.(418-420)Caa>Aaa p.Q140K ALOX5_ENST00000542434.1_Missense_Mutation_p.Q140K NM_000698.3|NM_001256153.1 NP_000689.1|NP_001243082.1 P09917 LOX5_HUMAN arachidonate 5-lipoxygenase 140 Lipoxygenase. hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process cytosol|nuclear envelope lumen|nuclear matrix|nuclear membrane arachidonate 5-lipoxygenase activity|iron ion binding|lipoxygenase activity|protein binding breast(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 37 Lung SC(717;0.0257) Diethylcarbamazine(DB00711)|Hydrocortisone(DB00741)|Leflunomide(DB01097)|Masoprocol(DB00179)|Meclofenamic acid(DB00939)|Minocycline(DB01017)|Montelukast(DB00471)|Quinacrine(DB01103)|Vitamin E(DB00163)|Zileuton(DB00744) GGAAACACGGCAAAAACAATA 0.448000 14 36 2.32078e-09 2.97378e-09 1 1 0 POLE 5426 broad.mit.edu 37 12 133219462 133219462 + Missense_Mutation SNP C C T TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr12:133219462C>T ENST00000320574.5 - 36 4715 c.4672G>A c.(4672-4674)Gaa>Aaa p.E1558K POLE_ENST00000535270.1_Missense_Mutation_p.E1531K NM_006231.2 NP_006222.2 Q07864 DPOE1_HUMAN polymerase (DNA directed), epsilon, catalytic subunit 1558 base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair nucleoplasm chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 89 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0416) OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05) AGGTCAGTTTCTGCCCGAACT 0.597000 DNA polymerases (catalytic subunits) 12 113 0 0 1 0 0 TBX5 6910 broad.mit.edu 37 12 114804198 114804198 + Splice_Site SNP T T A TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr12:114804198T>A ENST00000310346.4 - 8 1422 c.e8-2 TBX5_ENST00000349716.5_Splice_Site|TBX5_ENST00000526441.1_Splice_Site|TBX5_ENST00000405440.2_Splice_Site NM_000192.3 NP_000183.2 Q99593 TBX5_HUMAN T-box 5 cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development cytoplasm|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 Medulloblastoma(191;0.163)|all_neural(191;0.178) BRCA - Breast invasive adenocarcinoma(302;0.0893) TATTCTTTACTGAAAGAGAAA 0.507000 9 47 0 0 1 0 0 MYO7B 4648 broad.mit.edu 37 2 128342362 128342362 + Missense_Mutation SNP C C A TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr2:128342362C>A ENST00000389524.4 + 14 1617 c.1564C>A c.(1564-1566)Ctc>Atc p.L522I MYO7B_ENST00000409816.2_Missense_Mutation_p.L522I|MYO7B_ENST00000428314.1_Missense_Mutation_p.L522I Q6PIF6 MYO7B_HUMAN myosin VIIB 522 Myosin head-like. apical plasma membrane|myosin complex actin binding|ATP binding|motor activity breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1) 75 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0753) GGGGACAGATCTCACCATGCT 0.557000 16 82 2.35188e-11 3.11428e-11 1 1 0 MBTD1 54799 broad.mit.edu 37 17 49280558 49280558 + Silent SNP A A C TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr17:49280558A>C ENST00000586178.1 - 9 1114 c.771T>G c.(769-771)gcT>gcG p.A257A MBTD1_ENST00000376381.2_Silent_p.A257A|MBTD1_ENST00000415868.1_Silent_p.A257A NM_017643.2 NP_060113.2 Q05BQ5 MBTD1_HUMAN mbt domain containing 1 257 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)|urinary_tract(1) 12 BRCA - Breast invasive adenocarcinoma(22;1.54e-08) TCACTAGAAAAGCTTTCCAGT 0.308000 6 30 0 0 1 0 0 HTATSF1 27336 broad.mit.edu 37 X 135585006 135585006 + Nonsense_Mutation SNP G G T TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chrX:135585006G>T ENST00000535601.1 + 6 1062 c.640G>T c.(640-642)Gag>Tag p.E214* HTATSF1_ENST00000218364.4_Nonsense_Mutation_p.E214* NM_001163280.1 NP_001156752.1 O43719 HTSF1_HUMAN HIV-1 Tat specific factor 1 214 RRM 1. regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|viral genome replication nucleus nucleotide binding|protein binding|RNA binding NS(1)|biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(3)|prostate(1) 30 Acute lymphoblastic leukemia(192;0.000127) ATTACATGTTGAGGTGGCAAA 0.338000 6 52 2.7689e-08 3.4496e-08 1 1 0 SIX2 10736 broad.mit.edu 37 2 45233522 45233522 + Silent SNP C C A TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr2:45233522C>A ENST00000303077.6 - 2 982 c.663G>T c.(661-663)acG>acT p.T221T NM_016932.4 NP_058628.3 Q9NPC8 SIX2_HUMAN SIX homeobox 2 221 nucleus sequence-specific DNA binding transcription factor activity endometrium(6)|large_intestine(3)|lung(8)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2) 22 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) AGTGGTCTGGCGTCCCCGATG 0.652000 30 124 1.61788e-16 2.253e-16 1 1 0 ATP11C 286410 broad.mit.edu 37 X 138880904 138880904 + Splice_Site SNP T T A TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chrX:138880904T>A ENST00000370557.1 - 9 1738 c.e9-2 ATP11C_ENST00000361648.2_Splice_Site|ATP11C_ENST00000370543.1_Splice_Site|ATP11C_ENST00000359686.2_Splice_Site|ATP11C_ENST00000327569.3_Splice_Site Q8NB49 AT11C_HUMAN ATPase, class VI, type 11C ATP biosynthetic process integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3) 75 Acute lymphoblastic leukemia(192;0.000127) CCCAAAGACCTAAATAAAAAA 0.383000 7 40 0 0 1 0 0 ATRNL1 26033 broad.mit.edu 37 10 117059645 117059645 + Silent SNP C C G TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr10:117059645C>G ENST00000355044.3 + 16 2643 c.2517C>G c.(2515-2517)ggC>ggG p.G839G NM_207303.2 NP_997186.1 Q5VV63 ATRN1_HUMAN attractin-like 1 839 C-type lectin. integral to membrane sugar binding NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234) Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827) GGCTTCCTGGCGAACCCAATG 0.458000 5 64 0 0 1 0 0 IGF1R 3480 broad.mit.edu 37 15 99460053 99460053 + Missense_Mutation SNP G G A TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr15:99460053G>A ENST00000268035.6 + 10 2760 c.2149G>A c.(2149-2151)Gaa>Aaa p.E717K IGF1R_ENST00000558762.1_Missense_Mutation_p.E717K NM_000875.3 NP_000866.1 P08069 IGF1R_HUMAN insulin-like growth factor 1 receptor 717 anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization microsome ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 63 all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163) Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277) GGAGGAGGCTGAATACCGCAA 0.547000 5 45 0 0 1 0 0 PCDHB16 57717 broad.mit.edu 37 5 140563824 140563824 + Missense_Mutation SNP C C A TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr5:140563824C>A ENST00000361016.2 + 1 2845 c.1690C>A c.(1690-1692)Ccg>Acg p.P564T NM_020957.1 NP_066008.1 Q9NRJ7 PCDBG_HUMAN 564 calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1) 69 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CGTGCTGTACCCGCTGCAGAA 0.721000 13 127 3.45872e-05 3.91137e-05 1 1 0 SPATA9 83890 broad.mit.edu 37 5 95011240 95011240 + Missense_Mutation SNP G G A TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr5:95011240G>A ENST00000274432.8 - 3 395 c.254C>T c.(253-255)tCc>tTc p.S85F SPATA9_ENST00000477047.2_5'UTR|SPATA9_ENST00000395899.3_Missense_Mutation_p.S85F|RFESD_ENST00000508206.1_Intron NM_031952.3 NP_114158.2 Q9BWV2 SPAT9_HUMAN spermatogenesis associated 9 85 cell differentiation|multicellular organismal development|spermatogenesis integral to membrane large_intestine(3)|lung(4) 7 all_cancers(142;1.28e-06)|all_epithelial(76;1.55e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.00473)|Colorectal(57;0.0846)|Breast(839;0.198) all cancers(79;8.91e-16) TGATTTGGAGGATCTGGATAT 0.443000 10 57 0 0 1 0 0 OTOS 150677 broad.mit.edu 37 2 241078647 241078647 + Missense_Mutation SNP G G C TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr2:241078647G>C ENST00000391989.2 - 5 440 c.210C>G c.(208-210)ttC>ttG p.F70L OTOS_ENST00000319460.1_Missense_Mutation_p.F70L Q8NHW6 OTOSP_HUMAN otospiralin 70 extracellular region endometrium(2)|large_intestine(1)|lung(3) 6 all_epithelial(40;2.79e-15)|Breast(86;3.04e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0396)|Lung NSC(271;0.128)|Hepatocellular(293;0.148)|all_hematologic(139;0.158)|Melanoma(123;0.16) Epithelial(32;2.56e-30)|all cancers(36;7.18e-28)|OV - Ovarian serous cystadenocarcinoma(60;2.37e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;8.07e-06)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)|Colorectal(34;0.019)|COAD - Colon adenocarcinoma(134;0.141) AGTGGGCAAAGAAGGTTCGGG 0.637000 11 70 0 0 1 0 0 BSN 8927 broad.mit.edu 37 3 49692590 49692590 + Missense_Mutation SNP G G A TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr3:49692590G>A ENST00000296452.4 + 5 5715 c.5601G>A c.(5599-5601)atG>atA p.M1867I NM_003458.3 NP_003449.2 Q9UPA5 BSN_HUMAN bassoon presynaptic cytomatrix protein 1867 synaptic transmission cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome metal ion binding breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 106 BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336) TGGTGCAGATGGGAGAGGGCA 0.667000 11 33 0 0 1 0 0 TRRAP 8295 broad.mit.edu 37 7 98609706 98609706 + Missense_Mutation SNP C C G TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr7:98609706C>G ENST00000359863.4 + 72 11517 c.11308C>G c.(11308-11310)Ctg>Gtg p.L3770V TRRAP_ENST00000446306.3_Missense_Mutation_p.L3759V|TRRAP_ENST00000355540.3_Missense_Mutation_p.L3741V NM_001244580.1 NP_001231509.1 Q9Y4A5 TRRAP_HUMAN transformation/transcription domain-associated protein 3770 PI3K/PI4K. histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2) 176 all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274) STAD - Stomach adenocarcinoma(171;0.215) GGATGGCATTCTGAAAACGGT 0.547000 5 66 0 0 1 0 0 RND3 390 broad.mit.edu 37 2 151326659 151326659 + Missense_Mutation SNP C C A TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr2:151326659C>A ENST00000375734.2 - 5 826 c.577G>T c.(577-579)Gcc>Tcc p.A193S RND3_ENST00000409557.1_Missense_Mutation_p.A64S|RND3_ENST00000263895.4_Missense_Mutation_p.A193S NM_001254738.1 NP_001241667.1 P61587 RND3_HUMAN Rho family GTPase 3 193 actin cytoskeleton organization|cell adhesion|small GTPase mediated signal transduction Golgi membrane GTP binding|GTPase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|urinary_tract(1) 13 BRCA - Breast invasive adenocarcinoma(221;0.106) GCCAAGGTGGCAACGTGAAAA 0.433000 8 88 1.12685e-05 1.28511e-05 1 1 0 CES5A 221223 broad.mit.edu 37 16 55880516 55880516 + Missense_Mutation SNP C C A TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr16:55880516C>A ENST00000521992.1 - 14 1807 c.1662G>T c.(1660-1662)atG>atT p.M554I CES5A_ENST00000319165.9_Missense_Mutation_p.M475I|CES5A_ENST00000518005.1_Missense_Mutation_p.M419I|CES5A_ENST00000290567.9_Missense_Mutation_p.M525I|CES5A_ENST00000541580.1_5'UTR|CES5A_ENST00000520435.1_Missense_Mutation_p.M495I NM_001190158.1 NP_001177087.1 Q6NT32 EST5A_HUMAN carboxylesterase 5A 525 extracellular region carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 39 GTCCGAGGCTCATGTTCAAGT 0.527000 51 224 9.22156e-22 1.31402e-21 1 1 0 ZRSR1 7310 broad.mit.edu 37 5 112227939 112227939 + Silent SNP T T C rs712666 by1000genomes TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr5:112227939T>C ENST00000391338.1 + 1 627 c.603T>C c.(601-603)tcT>tcC p.S201S REEP5_ENST00000545426.1_Intron|REEP5_ENST00000474542.2_Intron|REEP5_ENST00000513339.1_Intron|SRP19_ENST00000512790.1_3'UTR|REEP5_ENST00000504247.1_Intron|REEP5_ENST00000379638.4_Intron NM_001204199.1 NP_001191128.1 zinc finger (CCCH type), RNA-binding motif and serine/arginine rich 1 p.S201S(1) breast(1)|skin(1)|stomach(2) 4 TCCCAACATCTAGTCCTACCC 0.453000 8 111 0 0 1 0 0 KPNA1 3836 broad.mit.edu 37 3 122215283 122215283 + Splice_Site SNP C C T TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr3:122215283C>T ENST00000344337.6 - 2 306 c.e2+1 NM_002264.3 NP_002255.3 P52294 IMA1_HUMAN karyopherin alpha 1 (importin alpha 5) DNA fragmentation involved in apoptotic nuclear change|NLS-bearing substrate import into nucleus|regulation of DNA recombination|viral genome transport in host cell|viral infectious cycle cytosol|nuclear pore|nucleoplasm nuclear localization sequence binding|protein binding|protein transporter activity NS(1)|breast(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 21 GBM - Glioblastoma multiforme(114;0.0898) AAAGGATTTACCTGCTCTTCT 0.388000 9 70 0 0 1 0 0 INTS4 92105 broad.mit.edu 37 11 77632422 77632422 + Silent SNP G G A TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr11:77632422G>A ENST00000534064.1 - 14 1762 c.1728C>T c.(1726-1728)ctC>ctT p.L576L NM_033547.3 NP_291025.3 Q96HW7 INT4_HUMAN integrator complex subunit 4 576 snRNA processing integrator complex protein binding INTS4/GAB2(2) NS(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(5)|upper_aerodigestive_tract(1) 32 all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152) Epithelial(5;1.13e-46)|all cancers(3;8.92e-44)|BRCA - Breast invasive adenocarcinoma(5;8.4e-26)|OV - Ovarian serous cystadenocarcinoma(8;1.05e-23) GACTGTCTCGGAGGTAGGCAT 0.408000 12 71 0 0 1 0 0 VCAN 1462 broad.mit.edu 37 5 82849220 82849220 + Silent SNP A A G TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr5:82849220A>G ENST00000265077.3 + 11 10096 c.9531A>G c.(9529-9531)caA>caG p.Q3177Q VCAN-AS1_ENST00000512090.1_RNA|VCAN-AS1_ENST00000513899.1_RNA|VCAN_ENST00000502527.2_Silent_p.Q436Q|VCAN_ENST00000342785.4_Silent_p.Q1423Q|VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000512590.2_Silent_p.Q1375Q|VCAN_ENST00000343200.5_Silent_p.Q2190Q NM_004385.4 NP_004376.2 P13611 CSPG2_HUMAN versican 3177 C-type lectin. cell adhesion|cell recognition|glial cell migration extracellular space|proteinaceous extracellular matrix calcium ion binding|hyaluronic acid binding|sugar binding NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 190 Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142) OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29) ACAAATTCCAAGGGCAGTGCT 0.512000 8 88 0 0 1 0 0 ADCK1 57143 broad.mit.edu 37 14 78374209 78374209 + Missense_Mutation SNP G G T TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr14:78374209G>T ENST00000238561.5 + 7 904 c.805G>T c.(805-807)Ggg>Tgg p.G269W ADCK1_ENST00000341211.5_Missense_Mutation_p.G201W NM_020421.3 NP_065154.2 Q86TW2 ADCK1_HUMAN aarF domain containing kinase 1 276 Protein kinase. extracellular region ATP binding|protein serine/threonine kinase activity breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(2) 25 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0376) TGTGGATGGCGGGCAGGTCAA 0.592000 7 44 0.00198382 0.00208921 1 1 0 PLVAP 83483 broad.mit.edu 37 19 17476583 17476583 + Missense_Mutation SNP C C A TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr19:17476583C>A ENST00000252590.4 - 3 752 c.691G>T c.(691-693)Gac>Tac p.D231Y NM_031310.1 NP_112600.1 Q9BX97 PLVAP_HUMAN plasmalemma vesicle associated protein 231 caveola|integral to membrane|perinuclear region of cytoplasm cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 TCAAACTTGTCCTTGTCCAGG 0.582000 29 64 4.22769e-11 5.56536e-11 1 1 0 CHRNB4 1143 broad.mit.edu 37 15 78917399 78917399 + Silent SNP A A G rs1948 by1000genomes TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr15:78917399A>G ENST00000412074.2 - 5 705 c.594T>C c.(592-594)gcT>gcC p.A198A CHRNB4_ENST00000261751.3_3'UTR NM_001256567.1 NP_001243496.1 P30926 ACHB4_HUMAN cholinergic receptor, nicotinic, beta 4 (neuronal) 0 regulation of neurotransmitter secretion|synaptic transmission involved in micturition|synaptic transmission, cholinergic cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity endometrium(7)|kidney(1)|lung(13)|prostate(1) 22 GGGCCTCATCAGCCACAACCC 0.602000 6 70 0 0 1 0 0 ZNF557 79230 broad.mit.edu 37 19 7075719 7075719 + Missense_Mutation SNP G G C TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr19:7075719G>C ENST00000414706.1 + 4 558 c.85G>C c.(85-87)Gag>Cag p.E29Q ZNF557_ENST00000439035.2_Missense_Mutation_p.E22Q|ZNF557_ENST00000252840.6_Missense_Mutation_p.E29Q NM_001044387.1|NM_001044388.1|NM_024341.2 NP_001037852.1|NP_001037853.1|NP_077317.2 Q8N988 ZN557_HUMAN zinc finger protein 557 22 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(6)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1) 17 Lung(535;0.179) AGAGGGCGGAGAGCTGGTTAA 0.517000 12 70 0 0 1 0 0 AGPAT1 10554 broad.mit.edu 37 6 32137744 32137744 + Splice_Site SNP C C T TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr6:32137744C>T ENST00000395499.1 - 6 1257 c.679_splice c.e6+1 p.S226_splice AGPAT1_ENST00000490711.1_5'UTR|AGPAT1_ENST00000375104.2_Splice_Site_p.S226_splice|PPT2-EGFL8_ENST00000422437.1_3'UTR|AGPAT1_ENST00000412465.2_Splice_Site_p.S114_splice|AGPAT1_ENST00000395496.1_Splice_Site_p.S226_splice|AGPAT1_ENST00000375107.3_Splice_Site_p.S226_splice|AGPAT1_ENST00000395497.1_Splice_Site_p.S226_splice|AGPAT1_ENST00000336984.6_Splice_Site_p.S226_splice Q99943 PLCA_HUMAN 1-acylglycerol-3-phosphate O-acyltransferase 1 226 energy reserve metabolic process|phosphatidic acid biosynthetic process|positive regulation of cellular metabolic process|positive regulation of cytokine production|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane 1-acylglycerol-3-phosphate O-acyltransferase activity central_nervous_system(1)|large_intestine(3)|lung(6)|ovary(2) 12 AGCCCTCACCCGAGGTGAAGC 0.562000 4 44 0 0 1 0 0 HMMR 3161 broad.mit.edu 37 5 162900425 162900425 + Missense_Mutation SNP G G T TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr5:162900425G>T ENST00000416990.2 + 9 918 c.421G>T c.(421-423)Gcc>Tcc p.A141S HMMR_ENST00000393915.4_Missense_Mutation_p.A256S|HMMR_ENST00000432118.2_Missense_Mutation_p.A169S|HMMR_ENST00000353866.3_Missense_Mutation_p.A240S|HMMR_ENST00000358715.3_Missense_Mutation_p.A255S O75330 HMMR_HUMAN hyaluronan-mediated motility receptor (RHAMM) 255 cell surface|cytoplasm hyaluronic acid binding cervix(1)|kidney(3)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(1) 23 Renal(175;0.000281) Medulloblastoma(196;0.00853)|all_neural(177;0.0408) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0296)|OV - Ovarian serous cystadenocarcinoma(192;0.0423)|Epithelial(171;0.0848) GCTAGATATTGCCCAGTTAGA 0.308000 10 47 3.07112e-06 3.55659e-06 1 1 0 BOC 91653 broad.mit.edu 37 3 112993295 112993295 + Silent SNP C C A TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr3:112993295C>A ENST00000495514.1 + 9 2012 c.1308C>A c.(1306-1308)ggC>ggA p.G436G BOC_ENST00000355385.3_Silent_p.G436G|BOC_ENST00000273395.4_Silent_p.G436G Q9BWV1 BOC_HUMAN BOC cell adhesion associated, oncogene regulated 436 cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation integral to membrane|plasma membrane protein binding NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 68 Epithelial(53;0.227) CCAAACTCGGCAACCCTGAGC 0.632000 25 80 1.1804e-14 1.62697e-14 1 1 0 TAB3 257397 broad.mit.edu 37 X 30864760 30864760 + Splice_Site SNP G G T TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chrX:30864760G>T ENST00000378933.1 - 5 1889 c.1710_splice c.e5-1 p.P571_splice TAB3_ENST00000288422.2_Splice_Site_p.P571_splice|TAB3_ENST00000378928.1_Splice_Site_p.P22_splice|TAB3_ENST00000378930.3_Splice_Site_p.P571_splice|TAB3_ENST00000378932.2_Splice_Site_p.P571_splice NM_152787.3 NP_690000.2 Q8N5C8 TAB3_HUMAN TGF-beta activated kinase 1/MAP3K7 binding protein 3 571 activation of MAPK activity|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|endosome membrane|plasma membrane protein binding|zinc ion binding NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|skin(1) 27 CATTTCCTCAGGCTAGTAAGA 0.373000 9 46 7.48243e-07 8.84764e-07 1 1 0 GOLGA3 2802 broad.mit.edu 37 12 133398682 133398682 + Silent SNP G G A TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr12:133398682G>A ENST00000204726.3 - 2 591 c.33C>T c.(31-33)ctC>ctT p.L11L GOLGA3_ENST00000450791.2_Silent_p.L11L|GOLGA3_ENST00000456883.2_Silent_p.L11L|GOLGA3_ENST00000537452.1_Silent_p.L11L|GOLGA3_ENST00000545875.1_Silent_p.L11L NM_005895.3 NP_005886.2 Q08378 GOGA3_HUMAN golgin A3 11 intra-Golgi vesicle-mediated transport Golgi cisterna membrane|Golgi transport complex protein binding|transporter activity breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0176)|Lung NSC(355;0.204) OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06) TGTCCTCCTGGAGGCCATCTT 0.642000 7 44 0 0 1 0 0 CHRNA4 1137 broad.mit.edu 37 20 61981644 61981644 + Missense_Mutation SNP C C A TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr20:61981644C>A ENST00000370263.4 - 5 1340 c.1119G>T c.(1117-1119)gaG>gaT p.E373D CHRNA4_ENST00000463705.1_5'UTR NM_000744.6|NM_001256573.1 NP_000735.1|NP_001243502.1 P43681 ACHA4_HUMAN cholinergic receptor, nicotinic, alpha 4 (neuronal) 373 B cell activation|behavioral response to nicotine|calcium ion transport|cognition|DNA repair|membrane depolarization|regulation of action potential|regulation of dopamine secretion|regulation of inhibitory postsynaptic membrane potential|response to hypoxia|response to oxidative stress|sensory perception of pain|synaptic transmission, cholinergic cell junction|dendrite|external side of plasma membrane|membrane fraction|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(19)|prostate(3)|skin(3)|soft_tissue(1) 33 all_cancers(38;1.71e-10) Nicotine(DB00184)|Varenicline(DB01273) TATGCATGGACTCGATGAGCC 0.672000 4 28 0.00909568 0.00943152 1 1 0 NDUFB11 54539 broad.mit.edu 37 X 47003895 47003895 + Missense_Mutation SNP C C T rs148785274 TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chrX:47003895C>T ENST00000377811.3 - 1 1008 c.184G>A c.(184-186)Gag>Aag p.E62K NDUFB11_ENST00000276062.8_Missense_Mutation_p.E62K NM_001135998.2 NP_001129470.1 Q9NX14 NDUBB_HUMAN NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 11, 17.3kDa 62 respiratory electron transport chain|transport integral to membrane|mitochondrial respiratory chain complex I endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|upper_aerodigestive_tract(1) 7 TTTTCGTCCTCGGGTTCTGGG 0.667000 OREG0019755 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 8 40 0 0 1 0 0 OR10A4 283297 broad.mit.edu 37 11 6898578 6898578 + Missense_Mutation SNP G G A TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr11:6898578G>A ENST00000379829.2 + 1 723 c.700G>A c.(700-702)Ggg>Agg p.G234R NM_207186.2 NP_997069.2 Q9H209 O10A4_HUMAN olfactory receptor, family 10, subfamily A, member 4 234 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(1)|large_intestine(2)|liver(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1) 31 Medulloblastoma(188;0.0523)|all_neural(188;0.236) Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) GTCAGCTGAGGGGAAACATCA 0.517000 21 93 0 0 1 0 0 SLC24A2 25769 broad.mit.edu 37 9 19786115 19786115 + Silent SNP G G T TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr9:19786115G>T ENST00000341998.2 - 1 811 c.750C>A c.(748-750)atC>atA p.I250I SLC24A2_ENST00000286344.3_Silent_p.I250I NM_001193288.2|NM_020344.3 NP_001180217.1|NP_065077.1 Q9UI40 NCKX2_HUMAN solute carrier family 24 (sodium/potassium/calcium exchanger), member 2 250 visual perception integral to membrane|plasma membrane calcium, potassium:sodium antiporter activity|symporter activity endometrium(3)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 33 GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443) TGATCAGCATGATCAAGTCAA 0.383000 16 58 0.000566183 0.000608624 1 1 0 ARL14EP 120534 broad.mit.edu 37 11 30352670 30352670 + Missense_Mutation SNP C C T TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr11:30352670C>T ENST00000282032.3 + 2 390 c.175C>T c.(175-177)Cat>Tat p.H59Y NM_152316.1 NP_689529.1 ADP-ribosylation factor-like 14 effector protein AATTTGCTTTCATCATGTAAA 0.313000 8 51 0 0 1 0 0 USP6NL 9712 broad.mit.edu 37 10 11504625 11504625 + Nonsense_Mutation SNP G G A TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr10:11504625G>A ENST00000379237.1 - 15 2696 c.2302C>T c.(2302-2304)Caa>Taa p.Q768* USP6NL_ENST00000277575.5_Nonsense_Mutation_p.Q785* NM_014688.2 NP_055503.1 Q92738 US6NL_HUMAN USP6 N-terminal like 768 intracellular Rab GTPase activator activity endometrium(3)|kidney(2)|large_intestine(6)|lung(18)|prostate(1)|skin(1)|urinary_tract(1) 32 GGTGCGAGTTGAAAGGCTGAG 0.498000 10 156 0 0 1 0 0 PRKAR2B 5577 broad.mit.edu 37 7 106797629 106797629 + Splice_Site SNP A A T TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr7:106797629A>T ENST00000265717.4 + 10 1243 c.e10-1 NM_002736.2 NP_002727.2 P31323 KAP3_HUMAN protein kinase, cAMP-dependent, regulatory, type II, beta activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|G2/M transition of mitotic cell cycle|intracellular signal transduction|nerve growth factor receptor signaling pathway|regulation of insulin secretion|transmembrane transport|water transport centrosome|cytosol|plasma membrane cAMP binding|cAMP-dependent protein kinase regulator activity breast(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1) 14 TTGCCTTGTCAGGGTAAATCA 0.408000 29 58 0 0 1 0 0 NALCN 259232 broad.mit.edu 37 13 101747931 101747931 + Missense_Mutation SNP C C A TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr13:101747931C>A ENST00000251127.6 - 28 3344 c.3263G>T c.(3262-3264)cGt>cTt p.R1088L NM_052867.2 NP_443099.1 Q8IZF0 NALCN_HUMAN sodium leak channel, non-selective 1088 integral to membrane sodium channel activity|voltage-gated ion channel activity NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 177 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) TTACCAAACACGGGGCACCCA 0.328000 6 41 0.00116845 0.00124216 1 1 0 DOK6 220164 broad.mit.edu 37 18 67508560 67508560 + Missense_Mutation SNP C C A TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr18:67508560C>A ENST00000382713.5 + 8 1127 c.937C>A c.(937-939)Cag>Aag p.Q313K NM_152721.5 NP_689934.2 Q6PKX4 DOK6_HUMAN docking protein 6 313 insulin receptor binding central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 20 Colorectal(73;0.083)|Esophageal squamous(42;0.131) AGAGGCCCAGCAGCCGTTGTC 0.537000 27 86 9.39395e-14 1.27909e-13 1 1 0 DCAF8L1 139425 broad.mit.edu 37 X 27998992 27998992 + Missense_Mutation SNP G G T TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chrX:27998992G>T ENST00000441525.1 - 1 574 c.460C>A c.(460-462)Cgc>Agc p.R154S NM_001017930.1 NP_001017930.1 A6NGE4 DC8L1_HUMAN DDB1 and CUL4 associated factor 8-like 1 154 NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1) 56 ACTTGCCAGCGAGATCGGGGC 0.567000 5 28 0.0293803 0.0300036 1 1 0 SRCIN1 80725 broad.mit.edu 37 17 36714551 36714551 + Nonsense_Mutation SNP C C A TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr17:36714551C>A ENST00000264659.7 - 11 2337 c.2113G>T c.(2113-2115)Gag>Tag p.E705* SRCIN1_ENST00000578925.1_Nonsense_Mutation_p.E739*|SRCIN1_ENST00000398579.4_5'UTR NM_025248.2 NP_079524.2 Q9C0H9 SRCN1_HUMAN SRC kinase signaling inhibitor 1 577 V -> M (in Ref. 6; AA sequence). exocytosis|negative regulation of protein tyrosine kinase activity|positive regulation of protein tyrosine kinase activity|regulation of cell migration|regulation of dendritic spine morphogenesis|substrate adhesion-dependent cell spreading actin cytoskeleton|axon|cell junction|cytoplasm|dendrite|postsynaptic density|postsynaptic membrane protein kinase binding endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1) 19 AGCGGGTCCTCCTGCCGCCGC 0.677000 OREG0024362 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 15 43 3.45872e-05 3.91137e-05 1 1 0 FRG1B 284802 broad.mit.edu 37 20 29625877 29625877 + Missense_Mutation SNP G G A rs7266938 by1000genomes TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr20:29625877G>A ENST00000278882.3 + 5 501 c.121G>A c.(121-123)Gcc>Acc p.A41T FRG1B_ENST00000358464.4_Missense_Mutation_p.A41T|FRG1B_ENST00000439954.2_Missense_Mutation_p.A46T p.A41T(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GTACAGAATCGCCCTGAAATC 0.358000 6 80 0 0 1 0 0 CSRP2BP 57325 broad.mit.edu 37 20 18165421 18165421 + Missense_Mutation SNP C C G TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr20:18165421C>G ENST00000278816.2 + 10 2810 c.2160C>G c.(2158-2160)atC>atG p.I720M CSRP2BP_ENST00000435364.2_Missense_Mutation_p.I720M|CSRP2BP_ENST00000377681.2_Missense_Mutation_p.I719M|CSRP2BP_ENST00000489634.2_Missense_Mutation_p.I592M Q9H8E8 CSR2B_HUMAN CSRP2 binding protein 720 N-acetyltransferase. histone H3 acetylation Ada2/Gcn5/Ada3 transcription activator complex|cytoplasm LIM domain binding|N-acetyltransferase activity NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|stomach(1) 34 CTTTCATGATCTATCATCTGA 0.433000 8 79 0 0 1 0 0 USH2A 7399 broad.mit.edu 37 1 216424381 216424381 + Missense_Mutation SNP C C A TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr1:216424381C>A ENST00000366943.2 - 12 2417 c.2031G>T c.(2029-2031)caG>caT p.Q677H USH2A_ENST00000366942.3_Missense_Mutation_p.Q677H|USH2A_ENST00000307340.3_Missense_Mutation_p.Q677H O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 677 Laminin EGF-like 3. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) AGAATCCATTCTGGCACTGAT 0.438000 HNSCC(13;0.011) 5 37 0.014758 0.015256 1 1 0 PAPD4 167153 broad.mit.edu 37 5 78919085 78919085 + Missense_Mutation SNP G G A TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr5:78919085G>A ENST00000453514.1 + 4 931 c.238G>A c.(238-240)Gat>Aat p.D80N PAPD4_ENST00000504233.1_Missense_Mutation_p.D80N|PAPD4_ENST00000428308.2_Missense_Mutation_p.D80N|PAPD4_ENST00000423041.2_Missense_Mutation_p.D80N|PAPD4_ENST00000296783.3_Missense_Mutation_p.D80N NM_001114394.1 NP_001107866.1 Q6PIY7 GLD2_HUMAN PAP associated domain containing 4 80 histone mRNA catabolic process|mRNA processing|RNA polyadenylation cytoplasm ATP binding|metal ion binding|polynucleotide adenylyltransferase activity p.D80N(1) biliary_tract(1)|breast(2)|endometrium(4)|kidney(3)|large_intestine(9)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 29 Lung NSC(167;0.00293)|all_lung(232;0.00323)|Ovarian(174;0.0261) OV - Ovarian serous cystadenocarcinoma(54;8.61e-47)|Epithelial(54;1.32e-41)|all cancers(79;2.45e-36) GAGATTAAGCGATGAAAAAAA 0.343000 10 37 0 0 1 0 0 ARSK 153642 broad.mit.edu 37 5 94903690 94903690 + Missense_Mutation SNP G G A TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr5:94903690G>A ENST00000380009.4 + 3 558 c.353G>A c.(352-354)aGg>aAg p.R118K NM_198150.2 NP_937793.1 Q6UWY0 ARSK_HUMAN arylsulfatase family, member K 118 extracellular region arylsulfatase activity|metal ion binding endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(1) 16 all_cancers(142;3.38e-06)|all_epithelial(76;6.57e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.00473) all cancers(79;6.5e-16) GTCATGGAGAGGCATGGCTAC 0.393000 4 33 0 0 1 0 0 GP2 2813 broad.mit.edu 37 16 20335398 20335398 + Missense_Mutation SNP C C G TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr16:20335398C>G ENST00000302555.5 - 3 424 c.275G>C c.(274-276)tGg>tCg p.W92S GP2_ENST00000381362.4_Missense_Mutation_p.W92S|GP2_ENST00000341642.5_Intron|GP2_ENST00000381360.5_Intron P55259 GP2_HUMAN glycoprotein 2 (zymogen granule membrane) 92 anchored to membrane|extracellular region|plasma membrane breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 AAAGCGGTACCAGCCGCTCAT 0.562000 6 94 0 0 1 0 0 TRAF6 7189 broad.mit.edu 37 11 36512104 36512104 + Missense_Mutation SNP C C G TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr11:36512104C>G ENST00000526995.1 - 7 1099 c.853G>C c.(853-855)Gac>Cac p.D285H TRAF6_ENST00000348124.5_Missense_Mutation_p.D285H|TRAF6_ENST00000529150.1_5'UTR NM_004620.3 NP_004611.1 Q9Y4K3 TRAF6_HUMAN TNF receptor-associated factor 6, E3 ubiquitin protein ligase 285 Interaction with TAX1BP1. activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|ossification|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of osteoclast differentiation|positive regulation of T cell cytokine production|protein autoubiquitination|protein K63-linked ubiquitination|response to interleukin-1|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway CD40 receptor complex|cell cortex|cytosol|endosome membrane|internal side of plasma membrane|nuclear membrane histone deacetylase binding|mitogen-activated protein kinase kinase kinase binding|protein kinase B binding|protein N-terminus binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1) 27 all_lung(20;0.211) all_hematologic(20;0.107) TACCCAGAGTCGGGTATAACG 0.493000 15 129 0 0 1 0 0 MOK 5891 broad.mit.edu 37 14 102732201 102732201 + Silent SNP C C G TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr14:102732201C>G ENST00000361847.2 - 3 402 c.171G>C c.(169-171)ctG>ctC p.L57L MOK_ENST00000524214.1_Intron|MOK_ENST00000193029.6_5'UTR|MOK_ENST00000522874.1_Silent_p.L57L NM_014226.1 NP_055041.1 Q9UQ07 MOK_HUMAN MOK protein kinase 57 Protein kinase. signal transduction Golgi apparatus ATP binding|cyclin-dependent protein kinase activity|protein binding GGTGCGGATTCAGGCGCCTCA 0.363000 12 86 0 0 1 0 0 ADCY2 108 broad.mit.edu 37 5 7626322 7626322 + Nonsense_Mutation SNP G G T TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr5:7626322G>T ENST00000338316.4 + 4 702 c.613G>T c.(613-615)Gga>Tga p.G205* NM_020546.2 NP_065433.2 Q08462 ADCY2_HUMAN adenylate cyclase 2 (brain) 205 VWQILANVIIFICGNLAGAY -> GLADPGQCDHFHLWEPG XTN (in Ref. 1; AAP97285). activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport cytoplasm|dendrite|integral to membrane|plasma membrane ATP binding|metal ion binding NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 119 GAACCTGGCGGGAGCCTACCA 0.443000 24 84 3.01185e-09 3.81576e-09 1 1 0 NPAP1 23742 broad.mit.edu 37 15 24923243 24923243 + Missense_Mutation SNP A A T TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr15:24923243A>T ENST00000329468.2 + 1 2703 c.2229A>T c.(2227-2229)caA>caT p.Q743H NM_018958.2 NP_061831.2 nuclear pore associated protein 1 CCTCAGTCCAAGGCTCCACCA 0.557000 18 129 0 0 1 0 0 ARHGAP36 158763 broad.mit.edu 37 X 130219638 130219638 + Silent SNP G G T TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chrX:130219638G>T ENST00000276211.5 + 8 1377 c.1032G>T c.(1030-1032)ctG>ctT p.L344L ARHGAP36_ENST00000370921.1_Silent_p.L208L|ARHGAP36_ENST00000370922.1_Silent_p.L332L NM_144967.3 NP_659404.2 Q6ZRI8 RHG36_HUMAN Rho GTPase activating protein 36 344 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2) 71 GTGATACCCTGGAGCGTCTGC 0.498000 31 290 5.09552e-08 6.27857e-08 1 1 0 HS3ST2 9956 broad.mit.edu 37 16 22826255 22826255 + Missense_Mutation SNP G G T TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr16:22826255G>T ENST00000261374.3 + 1 758 c.324G>T c.(322-324)aaG>aaT p.K108N NM_006043.1 NP_006034.1 Q9Y278 HS3S2_HUMAN heparan sulfate (glucosamine) 3-O-sulfotransferase 2 108 Golgi membrane|integral to membrane [heparan sulfate]-glucosamine 3-sulfotransferase 2 activity breast(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(2)|skin(1) 19 GBM - Glioblastoma multiforme(48;0.0299) GCTCACCCAAGCTGGGTACCA 0.726000 3 14 0.150653 0.151779 1 1 0 NES 10763 broad.mit.edu 37 1 156642365 156642365 + Missense_Mutation SNP C C T TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr1:156642365C>T ENST00000368223.3 - 4 1747 c.1615G>A c.(1615-1617)Gtt>Att p.V539I NM_006617.1 NP_006608.1 P48681 NEST_HUMAN nestin 539 Tail. brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation cytoplasm|intermediate filament intermediate filament binding|structural molecule activity central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4) 64 all_hematologic(923;0.088)|Hepatocellular(266;0.158) TCCAAAGGAACCTGGGAGTCC 0.463000 7 73 0 0 1 0 0 PASD1 139135 broad.mit.edu 37 X 150839611 150839611 + Silent SNP G G A TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chrX:150839611G>A ENST00000370357.4 + 12 1418 c.1173G>A c.(1171-1173)ctG>ctA p.L391L NM_173493.2 NP_775764.2 Q8IV76 PASD1_HUMAN PAS domain containing 1 391 nucleus signal transducer activity breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 48 Acute lymphoblastic leukemia(192;6.56e-05) CTTGGTTGCTGCATGATGCCA 0.453000 31 114 0 0 1 0 0 KMT2D 8085 broad.mit.edu 37 12 49425027 49425027 + Silent SNP G G A TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr12:49425027G>A ENST00000301067.7 - 39 13460 c.13461C>T c.(13459-13461)atC>atT p.I4487I NM_003482.3 NP_003473.3 lysine (K)-specific methyltransferase 2D TGTGCCCGTTGATCTCAGCTC 0.587000 11 139 0 0 1 0 0 ATP13A3 79572 broad.mit.edu 37 3 194126747 194126747 + Silent SNP G G T TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr3:194126747G>T ENST00000439040.1 - 33 4373 c.3582C>A c.(3580-3582)ctC>ctA p.L1194L ATP13A3_ENST00000256031.4_Silent_p.L1194L Q9H7F0 AT133_HUMAN ATPase type 13A3 1194 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 24 all_cancers(143;6.01e-09)|Ovarian(172;0.0634) Melanoma(1037;0.211) OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;5.98e-05) GATCAACCAAGAGCTCCTGCG 0.478000 8 71 5.18039e-06 5.98899e-06 1 1 0 OASL 8638 broad.mit.edu 37 12 121471372 121471372 + Missense_Mutation SNP C C A TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr12:121471372C>A ENST00000257570.5 - 2 643 c.373G>T c.(373-375)Gac>Tac p.D125Y OASL_ENST00000339275.5_Missense_Mutation_p.D125Y NM_003733.3 NP_003724.1 Q15646 OASL_HUMAN 2'-5'-oligoadenylate synthetase-like 125 interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway cytoplasm|nucleolus ATP binding|DNA binding|double-stranded RNA binding|thyroid hormone receptor binding|transferase activity NS(1)|endometrium(3)|large_intestine(4)|lung(4)|skin(2) 14 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) ATCCTCAGGTCCTCGAGCCCG 0.587000 16 93 1.67942e-08 2.10395e-08 1 1 0 SLC12A6 9990 broad.mit.edu 37 15 34528917 34528917 + Missense_Mutation SNP C C T TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr15:34528917C>T ENST00000354181.3 - 23 3526 c.3034G>A c.(3034-3036)Gac>Aac p.D1012N SLC12A6_ENST00000451844.2_Missense_Mutation_p.D824N|SLC12A6_ENST00000290209.5_Missense_Mutation_p.D961N|SLC12A6_ENST00000560164.1_Missense_Mutation_p.D824N|SLC12A6_ENST00000397707.2_Missense_Mutation_p.D997N|SLC12A6_ENST00000560611.1_Missense_Mutation_p.D1012N|SLC12A6_ENST00000558589.1_Missense_Mutation_p.D1003N|SLC12A6_ENST00000458406.2_Missense_Mutation_p.D953N|SLC12A6_ENST00000558667.1_Missense_Mutation_p.D1012N|SLC12A6_ENST00000397702.2_Missense_Mutation_p.D953N Q9UHW9 S12A6_HUMAN solute carrier family 12 (potassium/chloride transporter), member 6 1012 angiogenesis|cellular hypotonic salinity response|potassium ion transport|sodium ion transport basolateral plasma membrane|integral to membrane potassium:chloride symporter activity central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3) 45 all_lung(180;2.78e-08) all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301) Potassium Chloride(DB00761) ACCTCTCTGTCTCGCTCTGTT 0.498000 7 70 0 0 1 0 0 RAPGEF5 9771 broad.mit.edu 37 7 22184817 22184817 + Silent SNP G G A TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr7:22184817G>A ENST00000344041.6 - 20 1884 c.1572C>T c.(1570-1572)ttC>ttT p.F524F RAPGEF5_ENST00000401957.2_Silent_p.F374F NM_012294.3 NP_036426.3 Q92565 RPGF5_HUMAN Rap guanine nucleotide exchange factor (GEF) 5 374 Ras-GEF. nervous system development|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction nucleus GTP-dependent protein binding|Rap guanyl-nucleotide exchange factor activity central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)|ovary(1) 6 CCTGTCTGCTGAACGTGAAGT 0.448000 3 18 0 0 1 0 0 SLC5A7 60482 broad.mit.edu 37 2 108624949 108624949 + Silent SNP A A T TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr2:108624949A>T ENST00000264047.2 + 8 1200 c.924A>T c.(922-924)ccA>ccT p.P308P SLC5A7_ENST00000409059.1_Silent_p.P308P|SLC5A7_ENST00000540517.1_Silent_p.P203P NM_021815.2 NP_068587.1 Q9GZV3 SC5A7_HUMAN solute carrier family 5 (sodium/choline cotransporter), member 7 308 acetylcholine biosynthetic process|neurotransmitter secretion integral to membrane|plasma membrane choline:sodium symporter activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 Choline(DB00122) ATGGGCTTCCAGATCCCAAGA 0.428000 8 24 0 0 1 0 0 PCDHGB1 56104 broad.mit.edu 37 5 140730792 140730792 + Missense_Mutation SNP T T C TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr5:140730792T>C ENST00000523390.1 + 1 965 c.965T>C c.(964-966)gTa>gCa p.V322A PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron NM_018922.2|NM_032095.1 NP_061745.1|NP_115266.1 central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1) 16 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GATGGAGGAGTACACACAGCT 0.418000 8 49 0 0 1 0 0 SLC2A4 6517 broad.mit.edu 37 17 7189843 7189843 + Silent SNP G G A TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr17:7189843G>A ENST00000317370.8 + 11 1693 c.1425G>A c.(1423-1425)acG>acA p.T475T NM_001042.2 NP_001033.1 P14672 GTR4_HUMAN solute carrier family 2 (facilitated glucose transporter), member 4 475 carbohydrate metabolic process|glucose homeostasis|glucose import external side of plasma membrane|integral to plasma membrane|perinuclear region of cytoplasm D-glucose transmembrane transporter activity|protein binding breast(1)|endometrium(3)|large_intestine(7)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 17 GAGGCCGGACGTTTGACCAGA 0.527000 41 337 0 0 1 0 0 CHAMP1 283489 broad.mit.edu 37 13 115091253 115091253 + Missense_Mutation SNP A A G TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr13:115091253A>G ENST00000361283.1 + 3 2245 c.1936A>G c.(1936-1938)Att>Gtt p.I646V NM_001164144.1|NM_001164145.1|NM_032436.2 NP_001157616.1|NP_001157617.1|NP_115812.1 Q96JM3 ZN828_HUMAN chromosome alignment maintaining phosphoprotein 1 646 Mediates localization to the chromosome and the spindle and negatively regulates chromosome alignment. attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|protein localization to kinetochore|protein localization to microtubule|sister chromatid biorientation condensed chromosome kinetochore|cytoplasm|nucleus|spindle nucleic acid binding|protein binding|zinc ion binding TGCGATGGATATTAAGGGCCA 0.418000 8 45 0 0 1 0 0 KRTAP20-2 337976 broad.mit.edu 37 21 32007760 32007760 + Missense_Mutation SNP T T C TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr21:32007760T>C ENST00000330798.2 + 1 206 c.178T>C c.(178-180)Tgg>Cgg p.W60R NM_181616.1 NP_853647.1 Q3LI61 KR202_HUMAN keratin associated protein 20-2 60 intermediate filament central_nervous_system(1)|endometrium(3)|kidney(1)|lung(2)|ovary(1) 8 TGGAAGATACTGGTCCTGTGG 0.493000 15 172 0 0 1 0 0 SLC15A3 51296 broad.mit.edu 37 11 60708653 60708653 + Missense_Mutation SNP G G C TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr11:60708653G>C ENST00000227880.3 - 5 1450 c.1217C>G c.(1216-1218)tCt>tGt p.S406C NM_016582.2 NP_057666.1 Q8IY34 S15A3_HUMAN solute carrier family 15 (oligopeptide transporter), member 3 406 oligopeptide transport|protein transport integral to membrane|lysosomal membrane peptide:hydrogen symporter activity central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2) 17 CTGCAGAGCAGAGGGAAGCAG 0.587000 8 35 0 0 1 0 0 KIAA0586 9786 broad.mit.edu 37 14 58915106 58915106 + Missense_Mutation SNP A A T TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr14:58915106A>T ENST00000423743.3 + 8 982 c.724A>T c.(724-726)Agt>Tgt p.S242C KIAA0586_ENST00000538571.2_3'UTR|KIAA0586_ENST00000556134.1_Missense_Mutation_p.S271C|KIAA0586_ENST00000261244.5_Missense_Mutation_p.S286C|KIAA0586_ENST00000354386.6_Missense_Mutation_p.S339C NM_001244191.1|NM_001244192.1 NP_001231120.1|NP_001231121.1 E9PGW8 E9PGW8_HUMAN KIAA0586 286 endometrium(4)|kidney(6)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 TCAGCCTGTTAGTATGCCCTC 0.338000 6 69 0 0 1 0 0 SLC8A2 6543 broad.mit.edu 37 19 47969444 47969444 + Missense_Mutation SNP C C T TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr19:47969444C>T ENST00000236877.6 - 2 612 c.217G>A c.(217-219)Gtg>Atg p.V73M SLC8A2_ENST00000539381.1_Intron|SLC8A2_ENST00000542837.1_Intron NM_015063.2 NP_055878.1 Q9UPR5 NAC2_HUMAN solute carrier family 8 (sodium/calcium exchanger), member 2 73 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) AAGTACACCACTGCCCGTGCC 0.637000 21 37 0 0 1 0 0 EPX 8288 broad.mit.edu 37 17 56274597 56274597 + Missense_Mutation SNP C C A TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr17:56274597C>A ENST00000225371.5 + 7 1209 c.1099C>A c.(1099-1101)Cgc>Agc p.R367S NM_000502.4 NP_000493.1 P11678 PERE_HUMAN eosinophil peroxidase 367 hydrogen peroxide catabolic process heme binding|peroxidase activity|protein binding breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 48 CCGCTCGGCGCGCATCCCCTG 0.627000 11 78 5.50884e-06 6.34693e-06 1 1 0 LRTM2 654429 broad.mit.edu 37 12 1940449 1940449 + Missense_Mutation SNP C C G TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr12:1940449C>G ENST00000543818.1 + 4 1258 c.416C>G c.(415-417)tCg>tGg p.S139W LRTM2_ENST00000299194.1_Missense_Mutation_p.S139W|CACNA2D4_ENST00000587995.1_Intron|CACNA2D4_ENST00000586184.1_Intron|LRTM2_ENST00000543730.1_Intron|CACNA2D4_ENST00000585708.1_Intron|CACNA2D4_ENST00000588077.1_Intron|LRTM2_ENST00000535041.1_Missense_Mutation_p.S139W|CACNA2D4_ENST00000382722.5_Intron|CACNA2D4_ENST00000585732.1_Intron NM_001039029.2|NM_001163925.1|NM_001163926.1 NP_001034118.1|NP_001157397.1|NP_001157398.1 Q8N967 LRTM2_HUMAN leucine-rich repeats and transmembrane domains 2 139 integral to membrane NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|urinary_tract(1) 20 Ovarian(42;0.107) OV - Ovarian serous cystadenocarcinoma(31;0.000834) CTGCGGCACTCGCCGCTGCTC 0.652000 8 72 0 0 1 0 0 DNAAF1 123872 broad.mit.edu 37 16 84199417 84199417 + Missense_Mutation SNP G G T TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr16:84199417G>T ENST00000378553.5 + 7 1016 c.892G>T c.(892-894)Ggg>Tgg p.G298W DNAAF1_ENST00000563818.1_3'UTR|DNAAF1_ENST00000334315.5_Missense_Mutation_p.G298W NM_178452.4 NP_848547.4 Q8NEP3 DAAF1_HUMAN dynein, axonemal, assembly factor 1 298 axonemal dynein complex assembly|cilium morphogenesis cilium axoneme|cytoplasm|spindle pole dynein binding NS(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(4)|urinary_tract(1) 41 GGCTAGGGGAGGGTACGCAGC 0.512000 9 118 1.12685e-05 1.28511e-05 1 1 0 MYO16 23026 broad.mit.edu 37 13 109793570 109793570 + Missense_Mutation SNP G G C TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr13:109793570G>C ENST00000356711.2 + 32 5070 c.4944G>C c.(4942-4944)agG>agC p.R1648S MYO16_ENST00000357550.2_Missense_Mutation_p.R1648S NM_015011.1 NP_055826.1 Q9Y6X6 MYO16_HUMAN myosin XVI 1648 Pro-rich. cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane actin filament binding|ATP binding|motor activity NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 121 all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104) BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201) CGGACGCCAGGAAGGCCGGCT 0.692000 8 52 0 0 1 0 0 CMYA5 202333 broad.mit.edu 37 5 79028813 79028813 + Missense_Mutation SNP G G A TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr5:79028813G>A ENST00000446378.2 + 2 4256 c.4225G>A c.(4225-4227)Gaa>Aaa p.E1409K NM_153610.3 NP_705838.3 Q8N3K9 CMYA5_HUMAN cardiomyopathy associated 5 1409 perinuclear region of cytoplasm NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1) 128 Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262) OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35) ATCTGCAGATGAACATTCAGT 0.418000 5 22 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179437106 179437106 + Missense_Mutation SNP C C G TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr2:179437106C>G ENST00000589042.1 - 326 73977 c.73753G>C c.(73753-73755)Gaa>Caa p.E24585Q TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E15520Q|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E15645Q|TTN_ENST00000342992.6_Missense_Mutation_p.E22017Q|TTN_ENST00000342175.6_Missense_Mutation_p.E15712Q|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E22944Q|TTN-AS1_ENST00000590807.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 22944 Ig-like 122. 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) CTACAGCCTTCTTGAAGCTGG 0.438000 10 22 0 0 1 0 0 ROBO2 6092 broad.mit.edu 37 3 77612412 77612412 + Silent SNP C C T TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr3:77612412C>T ENST00000461745.1 + 11 2514 c.1614C>T c.(1612-1614)gtC>gtT p.V538V ROBO2_ENST00000332191.8_Silent_p.V538V|ROBO2_ENST00000487694.3_Silent_p.V554V NM_002942.4 NP_002933.1 Q9HCK4 ROBO2_HUMAN roundabout, axon guidance receptor, homolog 2 (Drosophila) 538 Fibronectin type-III 1. apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development axolemma|cell surface|integral to membrane axon guidance receptor activity|identical protein binding NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1) 117 Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103) AGAACAGTGTCACCTTGTCCT 0.478000 7 53 0 0 1 0 0 ROM1 6094 broad.mit.edu 37 11 62381161 62381161 + Silent SNP C C A TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr11:62381161C>A ENST00000278833.3 + 1 949 c.408C>A c.(406-408)ggC>ggA p.G136G ROM1_ENST00000534093.1_Intron NM_000327.3 NP_000318.1 Q03395 ROM1_HUMAN retinal outer segment membrane protein 1 136 cell adhesion|visual perception integral to plasma membrane central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1) 8 TGGAGGAGGGCCTGGTGACTG 0.657000 10 87 1.76689e-08 2.20534e-08 1 1 0 CCDC51 79714 broad.mit.edu 37 3 48476263 48476263 + Silent SNP G G C TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr3:48476263G>C ENST00000395694.2 - 2 361 c.276C>G c.(274-276)ctC>ctG p.L92L CCDC51_ENST00000447018.1_5'UTR|CCDC51_ENST00000412398.2_5'UTR|CCDC51_ENST00000442740.1_5'UTR|CCDC51_ENST00000395696.1_Silent_p.L92L NM_001256964.1 NP_001243893.1 Q96ER9 CCD51_HUMAN coiled-coil domain containing 51 92 integral to membrane endometrium(4)|kidney(4)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621) GAACCTCGTTGAGTCCAACAA 0.597000 13 88 0 0 1 0 0 PDS5B 23047 broad.mit.edu 37 13 33334733 33334733 + Silent SNP A A T TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr13:33334733A>T ENST00000315596.10 + 30 3579 c.3393A>T c.(3391-3393)ctA>ctT p.L1131L NM_015032.3 NP_055847.1 Q9NTI5 PDS5B_HUMAN PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae) 1131 cell division|cell proliferation|mitotic sister chromatid cohesion|negative regulation of cell proliferation chromatin|nucleus ATP binding|DNA binding|identical protein binding NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|lung(14)|ovary(5)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1) 62 Lung SC(185;0.0367) all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204) CCAATGTTCTAGGAGCTGTTA 0.378000 5 53 0 0 1 0 0 C1QTNF7 114905 broad.mit.edu 37 4 15443997 15443997 + Silent SNP C C A TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr4:15443997C>A ENST00000295297.4 + 3 724 c.465C>A c.(463-465)tcC>tcA p.S155S C1QTNF7_ENST00000429690.1_Silent_p.S148S|C1QTNF7_ENST00000444304.2_Silent_p.S148S NM_001135170.1 NP_001128642.1 Q9BXJ2 C1QT7_HUMAN C1q and tumor necrosis factor related protein 7 148 C1q. collagen endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|stomach(1) 16 TGCTCAAATCCGCCTTTTCTG 0.512000 25 253 1.75199e-13 2.37116e-13 1 1 0 CNIH2 254263 broad.mit.edu 37 11 66050518 66050518 + Missense_Mutation SNP G G A TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr11:66050518G>A ENST00000528852.1 + 4 478 c.211G>A c.(211-213)Gaa>Aaa p.E71K CNIH2_ENST00000530519.1_3'UTR|CNIH2_ENST00000311445.6_Missense_Mutation_p.E71K Q6PI25 CNIH2_HUMAN cornichon family AMPA receptor auxiliary protein 2 71 intracellular signal transduction|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic shaft|dendritic spine|endoplasmic reticulum membrane|postsynaptic density|postsynaptic membrane protein binding endometrium(1)|large_intestine(1)|lung(2)|prostate(1) 5 GGTGGTCCCAGAATACTCCAT 0.597000 OREG0021100 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 50 101 0 0 1 0 0 GDF3 9573 broad.mit.edu 37 12 7848292 7848292 + Silent SNP G G A TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr12:7848292G>A ENST00000329913.3 - 1 80 c.33C>T c.(31-33)agC>agT p.S11S NM_020634.1 NP_065685.1 Q9NR23 GDF3_HUMAN growth differentiation factor 3 11 eye development|growth|skeletal system development extracellular space cytokine activity|growth factor activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 28 TTAACAGGAAGCTGAAAGCCA 0.517000 10 31 0 0 1 0 0 OR52K2 119774 broad.mit.edu 37 11 4470692 4470692 + Silent SNP G G T TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr11:4470692G>T ENST00000325719.4 + 1 168 c.123G>T c.(121-123)ctG>ctT p.L41L NM_001005172.2 NP_001005172.2 Q8NGK3 O52K2_HUMAN olfactory receptor, family 52, subfamily K, member 2 41 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|skin(6) 25 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;1.48e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0821)|LUSC - Lung squamous cell carcinoma(625;0.19) CACTGGCCCTGCTTGGAAACT 0.532000 24 135 3.5997e-14 4.9313e-14 1 1 0 PTPRE 5791 broad.mit.edu 37 10 129859976 129859976 + Missense_Mutation SNP C C G TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr10:129859976C>G ENST00000254667.3 + 9 901 c.622C>G c.(622-624)Caa>Gaa p.Q208E PTPRE_ENST00000419012.2_Missense_Mutation_p.Q208E|PTPRE_ENST00000306042.5_Missense_Mutation_p.Q150E|PTPRE_ENST00000430713.2_3'UTR NM_006504.4 NP_006495.1 P23469 PTPRE_HUMAN protein tyrosine phosphatase, receptor type, E 208 Tyrosine-protein phosphatase 1. negative regulation of insulin receptor signaling pathway|protein phosphorylation cytoplasm|integral to membrane|intermediate filament cytoskeleton|nucleus|plasma membrane transmembrane receptor protein tyrosine phosphatase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 22 all_epithelial(44;1.66e-05)|all_lung(145;0.00456)|Lung NSC(174;0.0066)|all_neural(114;0.0936)|Colorectal(57;0.141)|Breast(234;0.166)|Melanoma(40;0.203) CATAGCAGCTCAAGGTAAGCT 0.313000 5 30 0 0 1 0 0 EPHA5 2044 broad.mit.edu 37 4 66270112 66270112 + Silent SNP G G A TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr4:66270112G>A ENST00000273854.3 - 8 2370 c.1770C>T c.(1768-1770)atC>atT p.I590I EPHA5_ENST00000354839.4_Silent_p.I590I|EPHA5_ENST00000432638.2_Silent_p.I427I|EPHA5_ENST00000511294.1_Silent_p.I591I NM_004439.5 NP_004430.4 P54756 EPHA5_HUMAN EPH receptor A5 590 cAMP-mediated signaling|neuron development dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum ATP binding|transmembrane-ephrin receptor activity autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 142 GGAGGACGCCGATAACCACTG 0.488000 TSP Lung(17;0.13) 7 37 0 0 1 0 0 STXBP5L 9515 broad.mit.edu 37 3 120998738 120998738 + Missense_Mutation SNP A A G TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr3:120998738A>G ENST00000273666.6 + 19 2316 c.2045A>G c.(2044-2046)tAt>tGt p.Y682C STXBP5L_ENST00000472879.1_Missense_Mutation_p.Y682C|STXBP5L_ENST00000471454.1_Missense_Mutation_p.Y682C|STXBP5L_ENST00000492541.1_Missense_Mutation_p.Y682C|STXBP5L_ENST00000497029.1_Missense_Mutation_p.Y682C NM_014980.2 NP_055795.1 Q9Y2K9 STB5L_HUMAN syntaxin binding protein 5-like 682 exocytosis|protein transport cytoplasm|integral to membrane|plasma membrane NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 68 GBM - Glioblastoma multiforme(114;0.0694) ATTGACCTATATAGATCAAGT 0.403000 6 58 0 0 1 0 0 CYFIP2 26999 broad.mit.edu 37 5 156786043 156786043 + Missense_Mutation SNP A A T TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr5:156786043A>T ENST00000347377.6 + 24 3135 c.2704A>T c.(2704-2706)Agc>Tgc p.S902C CYFIP2_ENST00000435847.2_Missense_Mutation_p.S601C|CYFIP2_ENST00000377576.3_Missense_Mutation_p.S902C|CYFIP2_ENST00000541131.1_Missense_Mutation_p.S827C|CYFIP2_ENST00000521420.1_Missense_Mutation_p.S876C|CYFIP2_ENST00000318218.6_Missense_Mutation_p.S927C|CYFIP2_ENST00000442283.2_Missense_Mutation_p.Q186L|CYFIP2_ENST00000522463.1_Missense_Mutation_p.S706C NM_001037332.2 NP_001032409.2 Q96F07 CYFP2_HUMAN cytoplasmic FMR1 interacting protein 2 927 apoptosis|cell-cell adhesion cell junction|perinuclear region of cytoplasm|synapse|synaptosome protein binding breast(1)|endometrium(12)|kidney(2)|lung(23) 38 Renal(175;0.00212) Medulloblastoma(196;0.0306)|all_neural(177;0.0897) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) CCACATCTACAGCTCCTACAG 0.502000 42 158 0 0 1 0 0 OR14I1 401994 broad.mit.edu 37 1 248845053 248845053 + Missense_Mutation SNP G G T TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr1:248845053G>T ENST00000342623.3 - 1 576 c.553C>A c.(553-555)Ctg>Atg p.L185M NM_001004734.1 NP_001004734.1 A6ND48 O14I1_HUMAN olfactory receptor, family 14, subfamily I, member 1 185 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(4)|large_intestine(2)|lung(24)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 35 CAGGAAACCAGGGCCAACACA 0.498000 5 33 0.000602214 0.000644274 1 1 0 DNAJC13 23317 broad.mit.edu 37 3 132213055 132213055 + Missense_Mutation SNP C C T TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr3:132213055C>T ENST00000260818.6 + 34 4141 c.3893C>T c.(3892-3894)tCa>tTa p.S1298L NM_015268.3 NP_056083.3 O75165 DJC13_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 13 1298 heat shock protein binding breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1) 34 CCTATGATGTCAATAGATGAT 0.373000 5 59 0 0 1 0 0 VEGFB 7423 broad.mit.edu 37 11 64005040 64005040 + Missense_Mutation SNP A A C TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr11:64005040A>C ENST00000309422.2 + 6 855 c.559A>C c.(559-561)Acc>Ccc p.T187P VEGFB_ENST00000426086.2_Missense_Mutation_p.D153A NM_001243733.1|NM_003377.4 NP_001230662.1|NP_003368.1 P49765 VEGFB_HUMAN vascular endothelial growth factor B 187 anti-apoptosis|induction of positive chemotaxis|negative regulation of gene expression|negative regulation of neuron apoptosis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of endothelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of mast cell chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of vascular endothelial growth factor receptor signaling pathway|positive regulation of vascular wound healing|vascular endothelial growth factor receptor signaling pathway extracellular region|extracellular space|membrane|platelet alpha granule lumen chemoattractant activity|growth factor activity|heparin binding|vascular endothelial growth factor receptor 1 binding endometrium(2)|large_intestine(2)|prostate(1)|stomach(1) 6 CAGCGCCCTGACCCCCGGACC 0.706000 6 17 0 0 1 0 0 SYT17 51760 broad.mit.edu 37 16 19195166 19195166 + Silent SNP C C T TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr16:19195166C>T ENST00000562034.1 + 3 4263 c.465C>T c.(463-465)tcC>tcT p.S155S SYT17_ENST00000562711.2_Silent_p.S212S|SYT17_ENST00000355377.2_Silent_p.S216S|SYT17_ENST00000568115.1_Silent_p.S155S Q9BSW7 SYT17_HUMAN synaptotagmin XVII 216 membrane|synaptic vesicle transporter activity NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1) 17 CTCCCATCTCCCACGATGGCT 0.612000 17 162 0 0 1 0 0 BRSK2 9024 broad.mit.edu 37 11 1467115 1467115 + Missense_Mutation SNP G G A TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr11:1467115G>A ENST00000308219.9 + 12 1590 c.1204G>A c.(1204-1206)Gag>Aag p.E402K BRSK2_ENST00000528841.1_Missense_Mutation_p.E402K|BRSK2_ENST00000308230.5_Missense_Mutation_p.E402K|BRSK2_ENST00000382179.1_Missense_Mutation_p.E448K|BRSK2_ENST00000544817.1_Missense_Mutation_p.E97K|BRSK2_ENST00000531197.1_Missense_Mutation_p.E402K|BRSK2_ENST00000528710.1_Missense_Mutation_p.E342K|BRSK2_ENST00000526678.1_Missense_Mutation_p.E402K NM_001256627.1|NM_003957.3 NP_001243556.1|NP_003948.2 Q8IWQ3 BRSK2_HUMAN BR serine/threonine kinase 2 402 establishment of cell polarity|neuron differentiation ATP binding|magnesium ion binding|protein serine/threonine kinase activity endometrium(4)|large_intestine(1)|lung(5) 10 all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00144)|Lung(200;0.0713)|LUSC - Lung squamous cell carcinoma(625;0.0842) GCGGGCCATTGAGATGGCCCA 0.716000 24 77 0 0 1 0 0 RPS6KL1 83694 broad.mit.edu 37 14 75376546 75376546 + Missense_Mutation SNP C C T TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr14:75376546C>T ENST00000555647.1 - 8 1257 c.970G>A c.(970-972)Ggc>Agc p.G324S RPS6KL1_ENST00000557413.1_Missense_Mutation_p.G324S|RPS6KL1_ENST00000358328.4_Missense_Mutation_p.G324S|RPS6KL1_ENST00000354625.2_Missense_Mutation_p.G293S Q9Y6S9 RPKL1_HUMAN ribosomal protein S6 kinase-like 1 324 Protein kinase. ribosome ATP binding|protein serine/threonine kinase activity central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 17 BRCA - Breast invasive adenocarcinoma(234;0.00658) TGCAGGTGGCCACCTGGGGCC 0.682000 4 19 0 0 1 0 0 SI 6476 broad.mit.edu 37 3 164716358 164716358 + Nonsense_Mutation SNP G G A TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr3:164716358G>A ENST00000264382.3 - 38 4572 c.4510C>T c.(4510-4512)Cga>Tga p.R1504* NM_001041.3 NP_001032.2 P14410 SUIS_HUMAN sucrase-isomaltase (alpha-glucosidase) 1504 Sucrase. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|brush border|Golgi apparatus|integral to membrane carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1) 218 Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199) Acarbose(DB00284) TTGTCCCATCGTGCATAGTTG 0.403000 HNSCC(35;0.089) 10 75 0 0 1 0 0 TSC22D1 8848 broad.mit.edu 37 13 45148877 45148877 + Missense_Mutation SNP T T A TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr13:45148877T>A ENST00000458659.2 - 1 1824 c.1334A>T c.(1333-1335)aAt>aTt p.N445I TSC22D1_ENST00000501704.2_Missense_Mutation_p.N445I NM_183422.3 NP_904358.2 Q15714 T22D1_HUMAN TSC22 domain family, member 1 445 transcription from RNA polymerase II promoter cytoplasm|nucleus protein binding|sequence-specific DNA binding transcription factor activity breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262) GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118) CACCACTTTATTTATCAGCAC 0.418000 45 96 0 0 1 0 0 SNRPN 6638 broad.mit.edu 37 15 25223574 25223574 + Missense_Mutation SNP C C A TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr15:25223574C>A ENST00000444203.2 + 8 1757 c.718C>A c.(718-720)Cgt>Agt p.R240S SNURF_ENST00000338094.6_3'UTR|SNRPN_ENST00000400100.1_Missense_Mutation_p.R236S|SNRPN_ENST00000390687.4_Missense_Mutation_p.R236S|SNRPN_ENST00000400098.1_Missense_Mutation_p.R236S|SNRPN_ENST00000554227.2_Missense_Mutation_p.R240S|SNRPN_ENST00000400097.1_Missense_Mutation_p.R236S|SNRPN_ENST00000577565.1_Missense_Mutation_p.R236S|SNRPN_ENST00000346403.6_Missense_Mutation_p.R236S P63162 RSMN_HUMAN small nuclear ribonucleoprotein polypeptide N 236 RNA splicing small nuclear ribonucleoprotein complex|spliceosomal complex identical protein binding|RNA binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(2) 24 all_cancers(20;9.33e-22)|Breast(32;0.000625) all cancers(64;3.38e-08)|Epithelial(43;3.45e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000207)|GBM - Glioblastoma multiforme(186;0.125) CCCAGGAATGCGTCCACCAAG 0.458000 Prader-Willi syndrome 14 180 4.3838e-07 5.2481e-07 1 1 0 ACTR3 10096 broad.mit.edu 37 2 114691893 114691893 + Missense_Mutation SNP A A C TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr2:114691893A>C ENST00000263238.2 + 6 790 c.470A>C c.(469-471)cAa>cCa p.Q157P ACTR3_ENST00000535589.2_Missense_Mutation_p.Q106P|ACTR3_ENST00000536059.1_Missense_Mutation_p.Q95P NM_001277140.1|NM_005721.3 NP_001264069.1|NP_005712.1 P61158 ARP3_HUMAN ARP3 actin-related protein 3 homolog (yeast) 157 cellular component movement|cilium morphogenesis Arp2/3 protein complex actin binding|ATP binding autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(2) 15 ACCTCAAGACAAGTAGGAGAA 0.398000 16 148 0 0 1 0 0 TGM7 116179 broad.mit.edu 37 15 43585711 43585711 + Silent SNP G G C TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr15:43585711G>C ENST00000452443.2 - 2 133 c.129C>G c.(127-129)ctC>ctG p.L43L NM_052955.2 NP_443187.1 Q96PF1 TGM7_HUMAN transglutaminase 7 43 peptide cross-linking acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(2)|prostate(4)|skin(1) 39 all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;9.14e-07) L-Glutamine(DB00130) AGCTCAGCCGGAGGTAGAAGG 0.632000 21 136 0 0 1 0 0 ZNF257 113835 broad.mit.edu 37 19 22271471 22271471 + Missense_Mutation SNP A A C TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr19:22271471A>C ENST00000594947.1 + 4 1063 c.919A>C c.(919-921)Aag>Cag p.K307Q NM_033468.2 NP_258429.2 Q9Y2Q1 ZN257_HUMAN zinc finger protein 257 307 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding haematopoietic_and_lymphoid_tissue(2)|lung(4) 6 all_lung(12;0.0961)|Lung NSC(12;0.103) TACTCAACATAAGAGAATTCA 0.398000 13 37 0 0 1 0 0 OR5T1 390155 broad.mit.edu 37 11 56043303 56043303 + Silent SNP G G T TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr11:56043303G>T ENST00000313033.2 + 1 275 c.189G>T c.(187-189)ggG>ggT p.G63G NM_001004745.1 NP_001004745.1 Q8NG75 OR5T1_HUMAN olfactory receptor, family 5, subfamily T, member 1 63 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(27)|ovary(2)|pancreas(1)|prostate(2)|skin(1) 43 Esophageal squamous(21;0.00448) CGATCATTGGGGATTTCTGGC 0.358000 13 53 0.00010058 0.000111315 1 1 0 MUC16 94025 broad.mit.edu 37 19 9083443 9083443 + Missense_Mutation SNP C C T TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr19:9083443C>T ENST00000397910.4 - 1 8575 c.8372G>A c.(8371-8373)gGa>gAa p.G2791E NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 2791 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 ACCCTGGCTTCCTGTGGTTAG 0.498000 5 18 0 0 1 0 0 TGM6 343641 broad.mit.edu 37 20 2411157 2411157 + Missense_Mutation SNP A A G TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr20:2411157A>G ENST00000202625.2 + 11 1805 c.1744A>G c.(1744-1746)Atc>Gtc p.I582V TGM6_ENST00000381423.1_Missense_Mutation_p.I582V NM_198994.2 NP_945345.2 O95932 TGM3L_HUMAN transglutaminase 6 582 cell death|peptide cross-linking acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4) 52 L-Glutamine(DB00130) GGACAAGAAGATCCTGTTGGC 0.468000 11 74 0 0 1 0 0 XYLT2 64132 broad.mit.edu 37 17 48433491 48433491 + Missense_Mutation SNP C C A TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr17:48433491C>A ENST00000017003.2 + 7 1400 c.1351C>A c.(1351-1353)Ctc>Atc p.L451I XYLT2_ENST00000507602.1_Missense_Mutation_p.L451I NM_022167.2 NP_071450.2 Q9H1B5 XYLT2_HUMAN xylosyltransferase II 451 glycosaminoglycan biosynthetic process endoplasmic reticulum membrane|Golgi membrane|integral to membrane acetylglucosaminyltransferase activity|protein xylosyltransferase activity endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(2)|urinary_tract(1) 12 Breast(11;7.18e-19) CTGTGAGACCCTCGTGGACAA 0.612000 9 81 1.12685e-05 1.28511e-05 1 1 0 NDUFB5 4711 broad.mit.edu 37 3 179334811 179334811 + Silent SNP A A G TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr3:179334811A>G ENST00000493866.1 + 2 190 c.165A>G c.(163-165)ccA>ccG p.P55P NDUFB5_ENST00000473500.1_3'UTR|NDUFB5_ENST00000472629.1_Silent_p.P95P|NDUFB5_ENST00000259037.3_Silent_p.P107P NM_001199957.1 NP_001186886.1 O43674 NDUB5_HUMAN NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 5, 16kDa 107 mitochondrial electron transport, NADH to ubiquinone|transport integral to membrane|mitochondrial respiratory chain complex I NADH dehydrogenase (ubiquinone) activity endometrium(1)|lung(6)|skin(1) 8 all_cancers(143;9.62e-16)|Ovarian(172;0.0172)|Breast(254;0.191) OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.18) NADH(DB00157) GCTATGTCCCAGAACACTGGG 0.318000 4 35 0 0 1 0 0 UNC13B 10497 broad.mit.edu 37 9 35377692 35377692 + Splice_Site SNP G G C TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr9:35377692G>C ENST00000378495.3 + 15 2038 c.1816_splice c.e15+1 p.V606_splice UNC13B_ENST00000378496.4_Splice_Site_p.V606_splice|UNC13B_ENST00000396787.1_Splice_Site_p.V618_splice NM_006377.3 NP_006368.3 O14795 UN13B_HUMAN unc-13 homolog B (C. elegans) 606 C2 2. excretion|induction of apoptosis|intracellular signal transduction cell junction|Golgi apparatus|synapse metal ion binding|receptor activity breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 63 all_epithelial(49;0.212) LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194) CACCATTACTGGTGAGCAGGC 0.537000 9 22 0 0 1 0 0 SLC38A4 55089 broad.mit.edu 37 12 47182310 47182310 + Splice_Site SNP C C T TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr12:47182310C>T ENST00000447411.1 - 3 417 c.e3+1 SLC38A4_ENST00000266579.4_Splice_Site NM_001143824.1 NP_001137296.1 Q969I6 S38A4_HUMAN solute carrier family 38, member 4 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) GATTCACTTACGTGTTCATCA 0.408000 10 57 0 0 1 0 0 FRK 2444 broad.mit.edu 37 6 116381156 116381156 + Missense_Mutation SNP C C T TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr6:116381156C>T ENST00000606080.1 - 1 765 c.319G>A c.(319-321)Gag>Aag p.E107K NM_002031.2 NP_002022.1 P42685 FRK_HUMAN fyn-related kinase 107 SH3. negative regulation of cell proliferation cytoplasm|nucleus ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|skin(1)|urinary_tract(1) 27 all_cancers(87;0.00559)|all_epithelial(87;0.00738)|Colorectal(196;0.0465) all cancers(137;0.0128)|OV - Ovarian serous cystadenocarcinoma(136;0.0209)|GBM - Glioblastoma multiforme(226;0.0459)|Epithelial(106;0.0625) CTTCTGTCCTCAGCCACGTAG 0.463000 12 152 0 0 1 0 0 ADAMDEC1 27299 broad.mit.edu 37 8 24257809 24257809 + Missense_Mutation SNP C C G TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr8:24257809C>G ENST00000538205.1 + 12 1448 c.901C>G c.(901-903)Ctg>Gtg p.L301V ADAMDEC1_ENST00000256412.4_Missense_Mutation_p.L380V|RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA|ADAMDEC1_ENST00000522298.1_Missense_Mutation_p.L301V NM_001145271.1 NP_001138743.1 O15204 ADEC1_HUMAN ADAM-like, decysin 1 380 Peptidase M12B. integrin-mediated signaling pathway|negative regulation of cell adhesion|proteolysis extracellular region|integral to membrane integrin binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1) 9 Prostate(55;0.0181) Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168) GAATCAGTATCTGAGGTGAGA 0.383000 8 40 0 0 1 0 0 PKD1L2 114780 broad.mit.edu 37 16 81145944 81145944 + RNA SNP C C G TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr16:81145944C>G ENST00000533478.1 - 0 4862 PKD1L2_ENST00000534142.1_RNA|PKD1L2_ENST00000525539.1_RNA NM_001278425.1 NP_001265354.1 Q7Z442 PK1L2_HUMAN polycystic kidney disease 1-like 2 neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity|sugar binding breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 CCAAGGGCGGCATCGGCTGCT 0.532000 7 49 0 0 1 0 0 DNAH8 1769 broad.mit.edu 37 6 38850692 38850692 + Nonsense_Mutation SNP G G A TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr6:38850692G>A ENST00000359357.3 + 52 7468 c.7214G>A c.(7213-7215)tGg>tAg p.W2405* DNAH8_ENST00000449981.2_Nonsense_Mutation_p.W2622*|DNAH8_ENST00000441566.1_Nonsense_Mutation_p.W2369* dynein, axonemal, heavy chain 8 NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4) 260 ATAGGTGATTGGGAGCACTGG 0.289000 11 72 0 0 1 0 0 NF1 4763 broad.mit.edu 37 17 29654691 29654691 + Nonsense_Mutation SNP C C T TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr17:29654691C>T ENST00000358273.4 + 38 5826 c.5443C>T c.(5443-5445)Cag>Tag p.Q1815* NF1_ENST00000356175.3_Nonsense_Mutation_p.Q1794*|NF1_ENST00000581113.2_3'UTR NM_001042492.2 NP_001035957.1 P21359 NF1_HUMAN neurofibromin 1 1815 actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus protein binding|Ras GTPase activator activity p.0?(8)|p.?(3)|p.Q1815*(1)|p.H1814fs*43(1) NF1/ACCN1(2) autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9) 599 all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659) UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146) CTTCATGCACCAGGAGTGTGA 0.493000 """D, Mis, N, F, S, O""" """neurofibroma, glioma""" """neurofibroma, glioma""" Neurofibromatosis, type 1 TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088) 15 122 0 0 1 0 0 GSS 2937 broad.mit.edu 37 20 33529522 33529522 + Missense_Mutation SNP G G A TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr20:33529522G>A ENST00000216951.2 - 6 700 c.602C>T c.(601-603)tCa>tTa p.S201L GSS_ENST00000451957.2_Intron|GSS_ENST00000541098.1_Missense_Mutation_p.S73L NM_000178.2 NP_000169.1 P48637 GSHB_HUMAN glutathione synthetase 201 nervous system development|response to oxidative stress|xenobiotic metabolic process cytosol ATP binding|glutathione binding|glutathione synthase activity|magnesium ion binding|protein homodimerization activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1) 17 BRCA - Breast invasive adenocarcinoma(18;0.035) Glutathione(DB00143)|Glycine(DB00145)|L-Cysteine(DB00151) TTACTTGGGTGAGCCGTAGAG 0.483000 7 65 0 0 1 0 0 POLE4 56655 broad.mit.edu 37 2 75186537 75186537 + Nonsense_Mutation SNP C C T TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr2:75186537C>T ENST00000483063.1 + 2 471 c.283C>T c.(283-285)Cag>Tag p.Q95* POLE4_ENST00000459636.1_3'UTR NM_019896.2 NP_063949.2 Q9NR33 DPOE4_HUMAN polymerase (DNA-directed), epsilon 4, accessory subunit 95 histone H3 acetylation Ada2/Gcn5/Ada3 transcription activator complex DNA-directed DNA polymerase activity|protein binding|sequence-specific DNA binding lung(1) 1 GAAAACCCTTCAGAGGAGAGA 0.493000 12 35 0 0 1 0 0 ADAMTS20 80070 broad.mit.edu 37 12 43833482 43833482 + Missense_Mutation SNP C C A TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr12:43833482C>A ENST00000389420.3 - 18 2535 c.2536G>T c.(2536-2538)Gac>Tac p.D846Y ADAMTS20_ENST00000395541.2_5'UTR|ADAMTS20_ENST00000553158.1_Missense_Mutation_p.D846Y NM_025003.3 NP_079279.3 P59510 ATS20_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 20 846 Spacer.|TSP type-1 2. proteinaceous extracellular matrix zinc ion binding p.D846N(1) breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1) 95 all_cancers(12;2.6e-05)|Lung SC(27;0.184) Lung NSC(34;0.0569)|all_lung(34;0.129) GBM - Glioblastoma multiforme(48;0.0473) GTGAACATGTCACTCCTCTCT 0.408000 5 56 3.59834e-05 4.04888e-05 1 1 0 ZNF281 23528 broad.mit.edu 37 1 200376921 200376921 + Missense_Mutation SNP G G A TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr1:200376921G>A ENST00000294740.2 - 2 2037 c.1913C>T c.(1912-1914)tCa>tTa p.S638L ZNF281_ENST00000367353.1_Missense_Mutation_p.S638L|ZNF281_ENST00000367352.3_Missense_Mutation_p.S602L NM_012482.3 NP_036614.1 Q9Y2X9 ZN281_HUMAN zinc finger protein 281 638 negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding breast(4)|endometrium(3)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 27 GTGTTCTCCTGAGGTGTGTAA 0.388000 7 62 0 0 1 0 0 KNDC1 85442 broad.mit.edu 37 10 135024141 135024141 + Missense_Mutation SNP A A T TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr10:135024141A>T ENST00000304613.3 + 21 3842 c.3821A>T c.(3820-3822)cAg>cTg p.Q1274L KNDC1_ENST00000368572.2_Missense_Mutation_p.Q1276L Q76NI1 VKIND_HUMAN kinase non-catalytic C-lobe domain (KIND) containing 1 1274 N-terminal Ras-GEF. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 60 all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05) GGTTATGTGCAGCAATTCCTC 0.637000 26 264 0 0 1 0 0 MXRA5 25878 broad.mit.edu 37 X 3228470 3228470 + Missense_Mutation SNP G G T TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chrX:3228470G>T ENST00000217939.6 - 7 7928 c.7774C>A c.(7774-7776)Cgc>Agc p.R2592S NM_015419.3 NP_056234.2 Q9NR99 MXRA5_HUMAN matrix-remodelling associated 5 2592 Ig-like C2-type 10. extracellular region NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2) 157 all_lung(23;0.00031)|Lung NSC(23;0.000946) TGGTAGAAGCGCTGCAGCTGC 0.657000 4 23 0.014758 0.015256 1 1 0 C2orf47 79568 broad.mit.edu 37 2 200820957 200820957 + Missense_Mutation SNP G G A TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr2:200820957G>A ENST00000295079.2 + 2 758 c.436G>A c.(436-438)Gag>Aag p.E146K C2orf47_ENST00000392290.1_Missense_Mutation_p.E146K NM_024520.2 NP_078796.2 Q8WWC4 CB047_HUMAN chromosome 2 open reading frame 47 146 mitochondrion cervix(1)|endometrium(2)|large_intestine(1)|lung(5) 9 AGAGTTCTCCGAGGGAGCGAA 0.468000 16 151 0 0 1 0 0 PCDH10 57575 broad.mit.edu 37 4 134072723 134072723 + Missense_Mutation SNP C C G TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr4:134072723C>G ENST00000264360.4 + 1 2254 c.1428C>G c.(1426-1428)aaC>aaG p.N476K NM_032961.1 NP_116586.1 Q9P2E7 PCD10_HUMAN protocadherin 10 476 Cadherin 5. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2) 136 LUSC - Lung squamous cell carcinoma(193;0.227) CTGAAAACAACGTGCCTGGCG 0.597000 16 85 0 0 1 0 0 PTPRJ 5795 broad.mit.edu 37 11 48142704 48142704 + Nonsense_Mutation SNP C C T TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr11:48142704C>T ENST00000418331.2 + 4 854 c.502C>T c.(502-504)Caa>Taa p.Q168* PTPRJ_ENST00000440289.2_Nonsense_Mutation_p.Q168* NM_002843.3 NP_002834.3 Q12913 PTPRJ_HUMAN protein tyrosine phosphatase, receptor type, J 168 Fibronectin type-III 1. contact inhibition|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of T cell receptor signaling pathway|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 52 TGTTGTGCATCAACCATGGTG 0.413000 18 66 0 0 1 0 0 IGHV3-16 28447 broad.mit.edu 37 14 106622078 106622078 + RNA SNP G G T TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr14:106622078G>T ENST00000390604.2 - 0 240 AGCCTTGCGGGCCCAGTTCAT 0.582000 46 225 6.81593e-30 9.87944e-30 1 1 0 CLCA2 9635 broad.mit.edu 37 1 86921073 86921073 + Missense_Mutation SNP G G C TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr1:86921073G>C ENST00000370565.4 + 14 2857 c.2695G>C c.(2695-2697)Gat>Cat p.D899H NM_006536.5 NP_006527.1 Q9UQC9 CLCA2_HUMAN chloride channel accessory 2 899 cell adhesion basal plasma membrane|cell junction|extracellular region|integral to plasma membrane chloride channel activity p.D899N(1) NS(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1) 42 Lung NSC(277;0.238) all cancers(265;0.0233)|Epithelial(280;0.0452) ACCTGCCAGAGATTATCTTAT 0.398000 33 183 0 0 1 0 0 STAM2 10254 broad.mit.edu 37 2 152977294 152977294 + Missense_Mutation SNP T T G TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr2:152977294T>G ENST00000263904.4 - 14 1721 c.1372A>C c.(1372-1374)Aat>Cat p.N458H NM_005843.4 NP_005834.4 O75886 STAM2_HUMAN signal transducing adaptor molecule (SH3 domain and ITAM motif) 2 458 cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway cytosol|early endosome membrane protein binding endometrium(3)|large_intestine(4)|lung(8)|ovary(1) 16 BRCA - Breast invasive adenocarcinoma(221;0.22) TAAGTAGGATTGGAAACAGTG 0.348000 10 81 0 0 1 0 0 KRTAP11-1 337880 broad.mit.edu 37 21 32253806 32253806 + Missense_Mutation SNP C C A TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr21:32253806C>A ENST00000332378.4 - 1 68 c.38G>T c.(37-39)aGg>aTg p.R13M NM_175858.2 NP_787054.1 Q8IUC1 KR111_HUMAN keratin associated protein 11-1 13 keratin filament structural molecule activity breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|pancreas(1) 18 TCCAATGGGCCTGGAAGAGCA 0.532000 11 68 0.0931896 0.0944508 1 1 0 OR2K2 26248 broad.mit.edu 37 9 114090556 114090556 + Nonsense_Mutation SNP G G C TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr9:114090556G>C ENST00000374428.1 - 1 244 c.245C>G c.(244-246)tCa>tGa p.S82* OR2K2_ENST00000302681.1_Nonsense_Mutation_p.S53* Q8NGT1 OR2K2_HUMAN olfactory receptor, family 2, subfamily K, member 2 82 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2) 20 TTTAAGGCGTGAATCTAGGAT 0.428000 18 62 0 0 1 0 0 PPP3CC 5533 broad.mit.edu 37 8 22384988 22384988 + Missense_Mutation SNP A A T TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr8:22384988A>T ENST00000240139.5 + 9 1354 c.1027A>T c.(1027-1029)Atg>Ttg p.M343L PPP3CC_ENST00000397775.3_Missense_Mutation_p.M343L|PPP3CC_ENST00000289963.8_Missense_Mutation_p.M343L NM_005605.4 NP_005596.2 P48454 PP2BC_HUMAN protein phosphatase 3, catalytic subunit, gamma isozyme 343 activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals cytosol calmodulin binding|metal ion binding|phosphoprotein phosphatase activity breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 17 Prostate(55;0.104) BRCA - Breast invasive adenocarcinoma(99;0.00756)|Colorectal(74;0.0238)|COAD - Colon adenocarcinoma(73;0.0835) TCCAAACTTTATGGATGTTTT 0.383000 20 119 0 0 1 0 0 ZBTB6 10773 broad.mit.edu 37 9 125673918 125673918 + Missense_Mutation SNP G G A TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr9:125673918G>A ENST00000373659.3 - 2 522 c.434C>T c.(433-435)tCt>tTt p.S145F NM_006626.5 NP_006617.1 Q15916 ZBTB6_HUMAN zinc finger and BTB domain containing 6 145 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(1)|skin(1) 11 AGGATCAGAAGACTGACACAG 0.343000 10 48 0 0 1 0 0 TPO 7173 broad.mit.edu 37 2 1488606 1488606 + Missense_Mutation SNP C C A TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr2:1488606C>A ENST00000345913.4 + 9 1668 c.1577C>A c.(1576-1578)cCa>cAa p.P526Q TPO_ENST00000382201.3_Missense_Mutation_p.P526Q|TPO_ENST00000497517.2_3'UTR|TPO_ENST00000349624.3_Missense_Mutation_p.P353Q|TPO_ENST00000346956.3_Missense_Mutation_p.P526Q|TPO_ENST00000382198.1_Missense_Mutation_p.P353Q|TPO_ENST00000337415.3_Missense_Mutation_p.P526Q|TPO_ENST00000329066.4_Missense_Mutation_p.P526Q NM_000547.5 NP_000538.3 P07202 PERT_HUMAN thyroid peroxidase 526 cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process cell surface|cytoplasm|integral to plasma membrane calcium ion binding|heme binding|iodide peroxidase activity breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627) all_cancers(51;0.0338) all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12) Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550) TTCTTCAGCCCATGGACATTA 0.542000 7 81 8.12818e-05 9.01052e-05 1 1 0 KNSTRN 90417 broad.mit.edu 37 15 40675159 40675159 + Silent SNP C C A TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr15:40675159C>A ENST00000416151.2 + 1 238 c.123C>A c.(121-123)gcC>gcA p.A41A KNSTRN_ENST00000249776.8_Silent_p.A41A|KNSTRN_ENST00000448395.2_Silent_p.A41A NM_001142761.1 NP_001136233.1 kinetochore-localized astrin/SPAG5 binding protein CCCAGGCGGCCGACTTAGCCG 0.587000 10 111 1.58986e-06 1.86684e-06 1 1 0 GRIA1 2890 broad.mit.edu 37 5 153175079 153175079 + Missense_Mutation SNP G G T TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr5:153175079G>T ENST00000340592.5 + 14 2387 c.2314G>T c.(2314-2316)Gtc>Ttc p.V772F GRIA1_ENST00000448073.4_Missense_Mutation_p.V782F|GRIA1_ENST00000521843.2_Intron|GRIA1_ENST00000518142.1_Intron|GRIA1_ENST00000518783.1_Intron|GRIA1_ENST00000285900.5_Intron NM_001114183.1|NM_001258020.1 NP_001107655.1|NP_001244949.1 P42261 GRIA1_HUMAN glutamate receptor, ionotropic, AMPA 1 772 synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 81 Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21) Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785) Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236) TGAGCAAGGCGTCTTAGACAA 0.448000 11 24 1.61879e-10 2.11447e-10 1 1 0 SPTA1 6708 broad.mit.edu 37 1 158590172 158590172 + Missense_Mutation SNP G G T TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr1:158590172G>T ENST00000368148.3 - 44 6385 c.6205C>A c.(6205-6207)Cct>Act p.P2069T SPTA1_ENST00000368147.3_Missense_Mutation_p.P2066T NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 (elliptocytosis 2) 2069 actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6) 307 all_hematologic(112;0.0378) CAGTGCACAGGCTCTGACAAG 0.468000 10 51 2.17888e-05 2.47233e-05 1 1 0 TRAF2 7186 broad.mit.edu 37 9 139814713 139814713 + Missense_Mutation SNP G G A TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr9:139814713G>A ENST00000359662.3 + 8 907 c.862G>A c.(862-864)Gag>Aag p.E288K TRAF2_ENST00000482854.1_3'UTR|TRAF2_ENST00000536468.1_Missense_Mutation_p.E236K|TRAF2_ENST00000247668.2_Missense_Mutation_p.E236K Q12933 TRAF2_HUMAN TNF receptor-associated factor 2 236 Important for interaction with BIRC2 and BIRC3 (By similarity). Missing (in Ref. 2; BAB70792). activation of caspase activity|activation of NF-kappaB-inducing kinase activity|activation of pro-apoptotic gene products|cellular protein complex assembly|induction of apoptosis by extracellular signals|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|protein autoubiquitination|protein homotrimerization|protein K63-linked ubiquitination|tumor necrosis factor-mediated signaling pathway CD40 receptor complex|cytosol|internal side of plasma membrane CD40 receptor binding|enzyme binding|protein binding|signal transducer activity|sphingolipid binding|ubiquitin-protein ligase activity|zinc ion binding breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 all_cancers(76;0.11) Myeloproliferative disorder(178;0.0511) STAD - Stomach adenocarcinoma(284;0.229) OV - Ovarian serous cystadenocarcinoma(145;4.48e-06)|Epithelial(140;9.55e-06) GCAGGAGCACGAGGTGCAGTG 0.662000 9 32 0 0 1 0 0 HERC2P3 283755 broad.mit.edu 37 15 20651252 20651252 + RNA SNP C C A TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr15:20651252C>A ENST00000428453.1 - 0 2385 central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 35 GCAGAAGCACCTTGAGCAGAA 0.507000 6 68 0.00448238 0.00466944 1 1 0 C6orf222 389384 broad.mit.edu 37 6 36298089 36298089 + Missense_Mutation SNP C C T TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr6:36298089C>T ENST00000437635.2 - 2 556 c.379G>A c.(379-381)Gag>Aag p.E127K NM_001010903.4 NP_001010903.3 P0C671 CF222_HUMAN chromosome 6 open reading frame 222 127 breast(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(4)|urinary_tract(4) 26 GAGATACCCTCCTTCCCCCTT 0.617000 8 118 0 0 1 0 0 KIAA0907 22889 broad.mit.edu 37 1 155883978 155883978 + Missense_Mutation SNP C C G TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr1:155883978C>G ENST00000368321.3 - 14 1802 c.1779G>C c.(1777-1779)ttG>ttC p.L593F KIAA0907_ENST00000368320.3_3'UTR NM_014949.2 NP_055764.2 Q7Z7F0 K0907_HUMAN KIAA0907 593 breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1) 21 Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195) OV - Ovarian serous cystadenocarcinoma(3;8.82e-06) ATTGGTATCCCAAACTCCAGC 0.463000 6 84 0 0 1 0 0 ZBTB4 57659 broad.mit.edu 37 17 7366134 7366134 + Missense_Mutation SNP C C T TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr17:7366134C>T ENST00000311403.4 - 4 2506 c.2167G>A c.(2167-2169)Gag>Aag p.E723K ZBTB4_ENST00000380599.4_Missense_Mutation_p.E723K NM_020899.3 NP_065950.2 Q9P1Z0 ZBTB4_HUMAN zinc finger and BTB domain containing 4 723 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(3)|skin(6) 36 Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255) COAD - Colon adenocarcinoma(228;4.1e-06)|READ - Rectum adenocarcinoma(115;0.0642) TGCCTCCGCTCTGTGCGGGCA 0.706000 12 93 0 0 1 0 0 ANO6 196527 broad.mit.edu 37 12 45695836 45695836 + Missense_Mutation SNP G G T TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr12:45695836G>T ENST00000320560.8 + 2 312 c.110G>T c.(109-111)gGa>gTa p.G37V ANO6_ENST00000426898.2_Intron|ANO6_ENST00000435642.1_Missense_Mutation_p.G37V|ANO6_ENST00000441606.2_Missense_Mutation_p.G19V|ANO6_ENST00000425752.2_Missense_Mutation_p.G37V|ANO6_ENST00000423947.3_Missense_Mutation_p.G58V NM_001025356.2 NP_001020527.2 Q4KMQ2 ANO6_HUMAN anoctamin 6 37 activation of blood coagulation via clotting cascade|phosphatidylserine exposure on blood platelet chloride channel complex|plasma membrane chloride channel activity central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 46 CCCGATTTGGGATCACTGGAA 0.368000 9 81 0.0931896 0.0944508 1 1 0 HSPH1 10808 broad.mit.edu 37 13 31727028 31727028 + Missense_Mutation SNP C C G TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr13:31727028C>G ENST00000320027.5 - 5 834 c.490G>C c.(490-492)Ggc>Cgc p.G164R HSPH1_ENST00000380406.5_Missense_Mutation_p.G123R|HSPH1_ENST00000429785.2_Intron|HSPH1_ENST00000380405.4_Missense_Mutation_p.G164R|HSPH1_ENST00000445273.2_Missense_Mutation_p.G166R NM_006644.2 NP_006635.2 Q92598 HS105_HUMAN heat shock 105kDa/110kDa protein 1 164 positive regulation of MHC class I biosynthetic process|positive regulation of NK T cell activation|response to unfolded protein cytoplasm|extracellular region ATP binding breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 27 Lung SC(185;0.0257) all cancers(112;0.00385)|Epithelial(112;0.0328)|OV - Ovarian serous cystadenocarcinoma(117;0.0375)|GBM - Glioblastoma multiforme(144;0.125) CAGTTTAGGCCAACAATCTGT 0.378000 14 148 0 0 1 0 0 SLITRK4 139065 broad.mit.edu 37 X 142718705 142718705 + Missense_Mutation SNP G G C TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chrX:142718705G>C ENST00000381779.4 - 2 445 c.220C>G c.(220-222)Ctg>Gtg p.L74V SLITRK4_ENST00000338017.4_Missense_Mutation_p.L74V|SLITRK4_ENST00000356928.1_Missense_Mutation_p.L74V NM_001184749.1|NM_001184750.1|NM_173078.3 NP_001171678.1|NP_001171679.1|NP_775101.1 Q8IW52 SLIK4_HUMAN SLIT and NTRK-like family, member 4 74 integral to membrane autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2) 60 Acute lymphoblastic leukemia(192;6.56e-05) TTTGGATACAGAATATTTAAA 0.378000 7 49 0 0 1 0 0 BDKRB2 624 broad.mit.edu 37 14 96707548 96707548 + Missense_Mutation SNP C C A TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr14:96707548C>A ENST00000542454.2 + 3 3890 c.802C>A c.(802-804)Ctg>Atg p.L268M BDKRB2_ENST00000554311.1_Missense_Mutation_p.L295M|BDKRB2_ENST00000539359.1_Missense_Mutation_p.L268M|RP11-404P21.8_ENST00000553811.1_Intron|BDKRB2_ENST00000306005.3_Missense_Mutation_p.L295M P30411 BKRB2_HUMAN bradykinin receptor B2 295 arachidonic acid secretion|elevation of cytosolic calcium ion concentration|transmembrane receptor protein tyrosine kinase signaling pathway endosome|integral to plasma membrane bradykinin receptor activity|phosphatidylinositol phospholipase C activity|protease binding|protein heterodimerization activity|type 1 angiotensin receptor binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|lung(7)|ovary(3)|skin(1) 24 all_cancers(154;0.0678)|Melanoma(154;0.155)|all_epithelial(191;0.179) COAD - Colon adenocarcinoma(157;0.226) CCTGGATACGCTGCATCGCCT 0.572000 4 35 0.150653 0.151779 1 1 0 IARS2 55699 broad.mit.edu 37 1 220284192 220284192 + Silent SNP G G T TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr1:220284192G>T ENST00000366922.1 + 11 1507 c.1176G>T c.(1174-1176)ccG>ccT p.P392P IARS2_ENST00000302637.5_Silent_p.P464P Q9NSE4 SYIM_HUMAN isoleucyl-tRNA synthetase 2, mitochondrial 464 isoleucyl-tRNA aminoacylation mitochondrial matrix ATP binding|isoleucine-tRNA ligase activity NS(1)|breast(1)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(17)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 51 GBM - Glioblastoma multiforme(131;0.0554) L-Isoleucine(DB00167) ATAGCTATCCGTATGACTGGA 0.358000 8 41 3.09899e-07 3.7232e-07 1 1 0 SNX14 57231 broad.mit.edu 37 6 86243325 86243325 + Missense_Mutation SNP C C T TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr6:86243325C>T ENST00000314673.3 - 18 1978 c.1802G>A c.(1801-1803)aGa>aAa p.R601K SNX14_ENST00000508980.1_5'UTR|SNX14_ENST00000505648.1_Missense_Mutation_p.R549K|SNX14_ENST00000346348.3_Missense_Mutation_p.R548K|SNX14_ENST00000369627.2_Missense_Mutation_p.R592K|SNX14_ENST00000513865.1_Intron NM_153816.3 NP_722523.1 Q9Y5W7 SNX14_HUMAN sorting nexin 14 601 PX. cell communication|protein transport integral to membrane phosphatidylinositol binding|signal transducer activity NS(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(11)|skin(1) 22 all_cancers(76;4.83e-07)|Acute lymphoblastic leukemia(125;3.3e-08)|Prostate(29;2.55e-07)|all_hematologic(105;3.66e-05)|all_epithelial(107;0.000695)|Lung NSC(302;0.197)|all_lung(197;0.24) BRCA - Breast invasive adenocarcinoma(108;0.0423) ACCTGCTCTTCTATCATTTCT 0.363000 4 34 0 0 1 0 0 VPS13B 157680 broad.mit.edu 37 8 100871593 100871593 + Silent SNP G G T TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr8:100871593G>T ENST00000358544.2 + 57 11115 c.11004G>T c.(11002-11004)ggG>ggT p.G3668G VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Silent_p.G3643G NM_017890.4 NP_060360.3 Q7Z7G8 VP13B_HUMAN vacuolar protein sorting 13 homolog B (yeast) 3668 protein transport NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9) 193 Breast(36;3.73e-07) OV - Ovarian serous cystadenocarcinoma(57;0.00636) GAAGCATCGGGAACGGGGTCG 0.587000 7 73 2.0095e-06 2.34325e-06 1 1 0 GRIN2A 2903 broad.mit.edu 37 16 9857910 9857910 + Missense_Mutation SNP G G T TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr16:9857910G>T ENST00000396573.2 - 14 3800 c.3491C>A c.(3490-3492)aCg>aAg p.T1164K GRIN2A_ENST00000404927.2_Missense_Mutation_p.T1164K|GRIN2A_ENST00000562109.1_Missense_Mutation_p.T1164K|GRIN2A_ENST00000330684.3_Missense_Mutation_p.T1164K|GRIN2A_ENST00000535259.1_Missense_Mutation_p.T1007K|GRIN2A_ENST00000396575.2_Missense_Mutation_p.T1164K NM_000833.3 NP_000824.1 Q12879 NMDE1_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2A 1164 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.T1164M(1) 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) CATTGGCAGCGTGGAGTCCCC 0.527000 34 152 2.51541e-25 3.6149e-25 1 1 0 LAMB1 3912 broad.mit.edu 37 7 107621257 107621257 + Splice_Site SNP C C G TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr7:107621257C>G ENST00000393561.1 - 6 933 c.e6-1 LAMB1_ENST00000393560.1_Splice_Site|LAMB1_ENST00000222399.6_Splice_Site P07942 LAMB1_HUMAN laminin, beta 1 axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm extracellular matrix structural constituent NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3) 82 Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) TTTAATAAATCTAGGAAGGTC 0.333000 5 30 0 0 1 0 0 PXDNL 137902 broad.mit.edu 37 8 52366331 52366331 + Missense_Mutation SNP C C A TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr8:52366331C>A ENST00000356297.4 - 10 1097 c.997G>T c.(997-999)Gta>Tta p.V333L PXDNL_ENST00000543296.1_Missense_Mutation_p.V333L NM_144651.4 NP_653252.3 A1KZ92 PXDNL_HUMAN peroxidasin homolog (Drosophila)-like 333 Ig-like C2-type 2. hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 48 all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015) GGCTGGATTACAAAGCTTGGT 0.438000 5 57 0.184627 0.185177 1 1 0 XYLT2 64132 broad.mit.edu 37 17 48433493 48433493 + Silent SNP C C A TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr17:48433493C>A ENST00000017003.2 + 7 1402 c.1353C>A c.(1351-1353)ctC>ctA p.L451L XYLT2_ENST00000507602.1_Silent_p.L451L NM_022167.2 NP_071450.2 Q9H1B5 XYLT2_HUMAN xylosyltransferase II 451 glycosaminoglycan biosynthetic process endoplasmic reticulum membrane|Golgi membrane|integral to membrane acetylglucosaminyltransferase activity|protein xylosyltransferase activity endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(2)|urinary_tract(1) 12 Breast(11;7.18e-19) GTGAGACCCTCGTGGACAACA 0.607000 9 80 0.000274275 0.000299129 1 1 0 NPHP1 4867 broad.mit.edu 37 2 110962518 110962518 + Missense_Mutation SNP G G C TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr2:110962518G>C ENST00000316534.4 - 1 101 c.28C>G c.(28-30)Ctc>Gtc p.L10V NPHP1_ENST00000418527.1_Missense_Mutation_p.L10V|NPHP1_ENST00000355301.4_Missense_Mutation_p.L10V|NPHP1_ENST00000393272.3_Missense_Mutation_p.L10V|NPHP1_ENST00000417665.1_Missense_Mutation_p.L10V|NPHP1_ENST00000445609.2_Missense_Mutation_p.L10V O15259 NPHP1_HUMAN nephronophthisis 1 (juvenile) 10 actin cytoskeleton organization|cell projection organization|cell-cell adhesion|excretion|retina development in camera-type eye|signal transduction|spermatid differentiation|visual behavior adherens junction|cell-cell junction|cilium axoneme|cytoplasm|cytoskeleton|motile cilium|photoreceptor connecting cilium protein binding|structural molecule activity autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(2) 24 AGGGCCTGGAGAGGATCTCGC 0.672000 9 65 0 0 1 0 0 CPAMD8 27151 broad.mit.edu 37 19 17056455 17056455 + Missense_Mutation SNP G G C TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr19:17056455G>C ENST00000443236.1 - 22 2869 c.2838C>G c.(2836-2838)tgC>tgG p.C946W NM_015692.2 NP_056507.2 Q8IZJ3 CPMD8_HUMAN C3 and PZP-like, alpha-2-macroglobulin domain containing 8 899 extracellular space|plasma membrane serine-type endopeptidase inhibitor activity p.C946C(1) breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5) 82 TCCCATCCCGGCAGCAATTTG 0.567000 13 120 0 0 1 0 0 OR52K1 390036 broad.mit.edu 37 11 4510264 4510264 + Missense_Mutation SNP G G A TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr11:4510264G>A ENST00000307632.3 + 1 156 c.134G>A c.(133-135)tGt>tAt p.C45Y NM_001005171.2 NP_001005171.2 Q8NGK4 O52K1_HUMAN olfactory receptor, family 52, subfamily K, member 1 45 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(18)|skin(2)|stomach(1) 32 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;1.76e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0836)|LUSC - Lung squamous cell carcinoma(625;0.192) CTAGGCAACTGTACCCTTCTC 0.488000 27 149 0 0 1 0 0 COL6A3 1293 broad.mit.edu 37 2 238274526 238274526 + Missense_Mutation SNP C C G TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr2:238274526C>G ENST00000295550.4 - 12 6105 c.5653G>C c.(5653-5655)Gtg>Ctg p.V1885L COL6A3_ENST00000472056.1_Missense_Mutation_p.V1278L|COL6A3_ENST00000346358.4_Missense_Mutation_p.V1685L|COL6A3_ENST00000353578.4_Missense_Mutation_p.V1679L|COL6A3_ENST00000347401.3_Missense_Mutation_p.V1684L|COL6A3_ENST00000409809.1_Missense_Mutation_p.V1679L NM_004369.3 NP_004360.2 P12111 CO6A3_HUMAN collagen, type VI, alpha 3 1885 Nonhelical region.|VWFA 10. axon guidance|cell adhesion|muscle organ development collagen type VI|extracellular space serine-type endopeptidase inhibitor activity p.V1885M(1) breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 217 Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203) Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034) GACACACGCACGGTGGGCGAG 0.612000 24 131 0 0 1 0 0 SLIT2 9353 broad.mit.edu 37 4 20568950 20568950 + Missense_Mutation SNP G G T TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr4:20568950G>T ENST00000504154.1 + 27 3043 c.2791G>T c.(2791-2793)Ggc>Tgc p.G931C SLIT2_ENST00000503837.1_Missense_Mutation_p.G927C|SLIT2_ENST00000503823.1_Missense_Mutation_p.G923C|SLIT2_ENST00000273739.5_Missense_Mutation_p.G935C NM_004787.1 NP_004778.1 O94813 SLIT2_HUMAN slit homolog 2 (Drosophila) 931 EGF-like 1. apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development cell surface|cytoplasm|extracellular space|plasma membrane calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1) 116 TAAAAATGATGGCACATGTAA 0.378000 22 96 5.35356e-11 7.03372e-11 1 1 0 SEMA3C 10512 broad.mit.edu 37 7 80447662 80447662 + Missense_Mutation SNP C C T TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr7:80447662C>T ENST00000265361.3 - 5 961 c.400G>A c.(400-402)Gct>Act p.A134T SEMA3C_ENST00000419255.2_Missense_Mutation_p.A134T|SEMA3C_ENST00000544525.1_Missense_Mutation_p.A152T|SEMA3C_ENST00000536800.1_Intron NM_006379.3 NP_006370.1 Q99985 SEM3C_HUMAN sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C 134 Sema. immune response|response to drug membrane receptor activity NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 34 GGACTGAAAGCGCCACTCCCA 0.388000 9 54 0 0 1 0 0 TPRG1L 127262 broad.mit.edu 37 1 3544135 3544135 + Missense_Mutation SNP C C T TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr1:3544135C>T ENST00000378344.2 + 4 613 c.542C>T c.(541-543)cCc>cTc p.P181L TPRG1L_ENST00000344579.5_Missense_Mutation_p.P122L NM_182752.3 NP_877429.2 Q5T0D9 TPRGL_HUMAN tumor protein p63 regulated 1-like 181 cell junction|synaptic vesicle endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|prostate(1) 8 all_cancers(77;0.0119)|all_epithelial(69;0.00481)|Ovarian(185;0.0634)|Lung NSC(156;0.162)|all_lung(157;0.172) all_epithelial(116;7.37e-22)|all_lung(118;8.23e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211) Epithelial(90;3.41e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.83e-22)|GBM - Glioblastoma multiforme(42;4.77e-14)|Colorectal(212;1.12e-05)|COAD - Colon adenocarcinoma(227;5.61e-05)|Kidney(185;0.000351)|BRCA - Breast invasive adenocarcinoma(365;0.000688)|KIRC - Kidney renal clear cell carcinoma(229;0.00553)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.201) AGATGGAATCCCTGGTCTACC 0.483000 28 94 0 0 1 0 0 FAT3 120114 broad.mit.edu 37 11 92616117 92616117 + Silent SNP C C A TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr11:92616117C>A ENST00000298047.6 + 23 12512 c.12495C>A c.(12493-12495)atC>atA p.I4165I FAT3_ENST00000525166.1_Silent_p.I4015I|FAT3_ENST00000533797.1_Silent_p.I500I|FAT3_ENST00000409404.2_Silent_p.I4165I Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 4165 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) TCTTCGTCATCTTCATCCTGG 0.602000 TCGA Ovarian(4;0.039) 9 27 3.09899e-07 3.7232e-07 1 1 0 STXBP4 252983 broad.mit.edu 37 17 53068288 53068288 + Missense_Mutation SNP G G T TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr17:53068288G>T ENST00000376352.2 + 4 357 c.150G>T c.(148-150)caG>caT p.Q50H STXBP4_ENST00000299341.4_5'UTR|STXBP4_ENST00000434978.2_Missense_Mutation_p.Q50H|STXBP4_ENST00000405898.1_Missense_Mutation_p.Q50H|STXBP4_ENST00000398391.2_Intron NM_178509.5 NP_848604.3 Q6ZWJ1 STXB4_HUMAN syntaxin binding protein 4 50 PDZ. cytoplasm calcium ion binding breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(4)|ovary(1)|upper_aerodigestive_tract(2) 19 TATATATTCAGGAAATTATTC 0.398000 9 150 0.0692343 0.0704893 1 1 0 KCTD19 146212 broad.mit.edu 37 16 67331511 67331511 + Missense_Mutation SNP C C T TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr16:67331511C>T ENST00000304372.5 - 7 1097 c.1042G>A c.(1042-1044)Gag>Aag p.E348K NM_001100915.1 NP_001094385.1 Q17RG1 KCD19_HUMAN potassium channel tetramerization domain containing 19 348 voltage-gated potassium channel complex voltage-gated potassium channel activity endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3) 23 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906) GCACAGAGCTCATATACCTCG 0.517000 9 65 0 0 1 0 0 CTNNA2 1496 broad.mit.edu 37 2 80773163 80773163 + Silent SNP A A G TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr2:80773163A>G ENST00000466387.1 + 15 2239 c.1515A>G c.(1513-1515)tcA>tcG p.S505S CTNNA2_ENST00000361291.4_Silent_p.S539S|CTNNA2_ENST00000343114.3_Silent_p.S184S|CTNNA2_ENST00000496558.1_Silent_p.S505S|CTNNA2_ENST00000540488.1_Silent_p.S505S|CTNNA2_ENST00000541047.1_Silent_p.S505S|CTNNA2_ENST00000402739.4_Silent_p.S505S P26232 CTNA2_HUMAN catenin (cadherin-associated protein), alpha 2 505 axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity actin cytoskeleton|axon|cytosol cadherin binding|structural constituent of cytoskeleton breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 78 ACATCACCTCAGTGGATGACT 0.507000 6 35 0 0 1 0 0 SSRP1 6749 broad.mit.edu 37 11 57102112 57102112 + Missense_Mutation SNP C C A TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr11:57102112C>A ENST00000278412.2 - 3 331 c.65G>T c.(64-66)cGa>cTa p.R22L NM_003146.2 NP_003137.1 Q08945 SSRP1_HUMAN structure specific recognition protein 1 22 DNA repair|DNA replication|positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction chromosome|cytoplasm|nucleoplasm DNA binding|protein binding breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(4) 23 CAACCTCAGTCGACCATCATT 0.507000 27 141 7.92952e-12 1.06042e-11 1 1 0 ARHGEF12 23365 broad.mit.edu 37 11 120312504 120312504 + Nonsense_Mutation SNP C C A TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr11:120312504C>A ENST00000397843.2 + 14 1347 c.1181C>A c.(1180-1182)tCa>tAa p.S394* ARHGEF12_ENST00000356641.3_Nonsense_Mutation_p.S375*|ARHGEF12_ENST00000532993.1_Nonsense_Mutation_p.S291* NM_015313.2 NP_056128.1 Q9NZN5 ARHGC_HUMAN Rho guanine nucleotide exchange factor (GEF) 12 394 RGSL. apoptosis|axon guidance|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|membrane G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2) 61 Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231) CATGTAGTTTCACAATTTGAC 0.388000 T MLL AML 16 80 1.33834e-09 1.72145e-09 1 1 0 ZNF582 147948 broad.mit.edu 37 19 56895447 56895447 + Missense_Mutation SNP C C G TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr19:56895447C>G ENST00000301310.4 - 5 1497 c.1339G>C c.(1339-1341)Gag>Cag p.E447Q ZNF582_ENST00000586929.1_Missense_Mutation_p.E447Q NM_144690.1 NP_653291.1 Q96NG8 ZN582_HUMAN zinc finger protein 582 447 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 Colorectal(82;0.000256)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0547) GGCTTTTTCTCAGTGTGAATA 0.368000 8 69 0 0 1 0 0 ZNF862 643641 broad.mit.edu 37 7 149558528 149558528 + Missense_Mutation SNP C C T TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr7:149558528C>T ENST00000223210.4 + 7 2524 c.2279C>T c.(2278-2280)tCa>tTa p.S760L NM_001099220.1 NP_001092690.1 O60290 ZN862_HUMAN zinc finger protein 862 760 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|nucleic acid binding|protein dimerization activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(1) 34 TATCAGTCCTCAAACAAGAGG 0.607000 23 69 0 0 1 0 0 CAD 790 broad.mit.edu 37 2 27461929 27461929 + Silent SNP G G A TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr2:27461929G>A ENST00000264705.4 + 32 5244 c.5082G>A c.(5080-5082)gaG>gaA p.E1694E CAD_ENST00000403525.1_Silent_p.E1631E NM_004341.3 NP_004332.2 P27708 PYR1_HUMAN carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase 1694 DHOase (dihydroorotase). 'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process cytosol|neuronal cell body|nuclear matrix|terminal button aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 92 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) L-Aspartic Acid(DB00128)|L-Glutamine(DB00130) CCTTGGAGGAGAAGTGTGGGT 0.597000 18 110 0 0 1 0 0 DNAH7 56171 broad.mit.edu 37 2 196851788 196851788 + Splice_Site SNP A A T TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr2:196851788A>T ENST00000312428.6 - 14 1855 c.e14+1 NM_018897.2 NP_061720.2 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3) 205 TCACATAAATACCTTGTATTT 0.343000 12 46 0 0 1 0 0 TMEM259 91304 broad.mit.edu 37 19 1011101 1011101 + Silent SNP G G A TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr19:1011101G>A ENST00000356663.3 - 10 1432 c.1311C>T c.(1309-1311)ttC>ttT p.F437F TMEM259_ENST00000333175.5_Intron NM_001033026.1 NP_001028198.1 transmembrane protein 259 TCACCTGGATGAAGAGCCAGG 0.637000 5 10 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7578235 7578235 + Missense_Mutation SNP T T C TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr17:7578235T>C ENST00000420246.2 - 6 746 c.614A>G c.(613-615)tAt>tGt p.Y205C TP53_ENST00000455263.2_Missense_Mutation_p.Y205C|TP53_ENST00000413465.2_Missense_Mutation_p.Y205C|TP53_ENST00000359597.4_Missense_Mutation_p.Y205C|TP53_ENST00000269305.4_Missense_Mutation_p.Y205C|TP53_ENST00000445888.2_Missense_Mutation_p.Y205C|TP53_ENST00000574684.1_Intron NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 205 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. Y -> C (in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in sporadic cancers; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.Y205C(68)|p.Y205S(14)|p.Y205F(8)|p.0?(8)|p.Y112C(5)|p.?(5)|p.Y73C(5)|p.Y73S(1)|p.Y112S(1)|p.E204fs*39(1)|p.E204_N210delEYLDDRN(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) GTCATCCAAATACTCCACACG 0.542000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 8 40 0 0 1 0 0 LYZL2 119180 broad.mit.edu 37 10 30915076 30915076 + Nonsense_Mutation SNP C C A TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr10:30915076C>A ENST00000375318.2 - 3 450 c.394G>T c.(394-396)Gga>Tga p.G132* NM_183058.2 NP_898881.2 Q7Z4W2 LYZL2_HUMAN lysozyme-like 2 86 cell wall macromolecule catabolic process extracellular region lysozyme activity NS(2)|central_nervous_system(1)|large_intestine(1)|lung(14)|prostate(1) 19 Prostate(175;0.151) TTCAGCTTTCCGCGTCTGCAC 0.567000 19 112 2.94398e-08 3.64751e-08 1 1 0 UBOX5 22888 broad.mit.edu 37 20 3102242 3102242 + Missense_Mutation SNP G G A TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr20:3102242G>A ENST00000217173.2 - 3 1514 c.1043C>T c.(1042-1044)aCg>aTg p.T348M UBOX5_ENST00000348031.2_Missense_Mutation_p.T348M|UBOX5-AS1_ENST00000446537.1_RNA NM_001267584.1|NM_014948.3 NP_001254513.1|NP_055763.1 O94941 RNF37_HUMAN U-box domain containing 5 348 nucleus|ubiquitin ligase complex ubiquitin-protein ligase activity|zinc ion binding endometrium(1)|kidney(2)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)|skin(1) 20 TGCCAATGCCGTCTGTGCTCT 0.552000 3 17 0 0 1 0 0 CYFIP1 23191 broad.mit.edu 37 15 22945111 22945111 + Silent SNP G G T TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr15:22945111G>T ENST00000313077.7 + 12 1307 c.1182G>T c.(1180-1182)gcG>gcT p.A394A CYFIP1_ENST00000560848.1_Silent_p.A394A NM_014608.2 NP_055423.1 Q7L576 CYFP1_HUMAN cytoplasmic FMR1 interacting protein 1 394 axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome actin filament binding|Rac GTPase binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 40 all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488) all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101) TCGACCTGGCGCTGCAGGGCC 0.706000 5 11 0.0215528 0.0220768 1 1 0 PRKCG 5582 broad.mit.edu 37 19 54394987 54394987 + Missense_Mutation SNP A A C TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr19:54394987A>C ENST00000263431.3 + 6 871 c.589A>C c.(589-591)Aaa>Caa p.K197Q PRKCG_ENST00000540413.1_Missense_Mutation_p.K197Q|PRKCG_ENST00000542049.1_Missense_Mutation_p.K84Q|PRKCG_ENST00000536044.1_Missense_Mutation_p.K197Q NM_002739.3 NP_002730.1 P05129 KPCG_HUMAN protein kinase C, gamma 197 C2. activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission cytosol ATP binding|protein kinase C activity|zinc ion binding large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1) 10 all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218) GBM - Glioblastoma multiforme(134;0.0521) TCCCTATGTGAAACTGAAGCT 0.522000 38 95 0 0 1 0 0 CDC42EP3 10602 broad.mit.edu 37 2 37873453 37873453 + Missense_Mutation SNP G G T TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr2:37873453G>T ENST00000295324.3 - 2 1278 c.278C>A c.(277-279)tCt>tAt p.S93Y AC006369.2_ENST00000419425.1_RNA NM_001270436.1|NM_001270437.1|NM_001270438.1|NM_006449.3 NP_001257365.1|NP_001257366.1|NP_001257367.1|NP_006440.2 Q9UKI2 BORG2_HUMAN CDC42 effector protein (Rho GTPase binding) 3 93 regulation of cell shape|signal transduction actin cytoskeleton|cytoplasm|endomembrane system|membrane cytoskeletal regulatory protein binding endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|prostate(1) 11 all_hematologic(82;0.172) TGTGAACACAGAGTCCGAGGT 0.547000 42 128 6.68952e-21 9.49208e-21 1 1 0 LGR6 59352 broad.mit.edu 37 1 202288096 202288096 + Missense_Mutation SNP C C A TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr1:202288096C>A ENST00000367278.3 + 18 2754 c.2665C>A c.(2665-2667)Cct>Act p.P889T LGR6_ENST00000439764.2_Missense_Mutation_p.P750T|LGR6_ENST00000255432.7_Missense_Mutation_p.P837T NM_001017403.1 NP_001017403.1 Q9HBX8 LGR6_HUMAN leucine-rich repeat containing G protein-coupled receptor 6 889 integral to membrane|plasma membrane protein-hormone receptor activity breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3) 36 TGGGCGGCCCCCTGGGCTGGA 0.627000 9 88 3.07112e-06 3.55659e-06 1 1 0 PTPRZ1 5803 broad.mit.edu 37 7 121682712 121682712 + Missense_Mutation SNP A A G TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr7:121682712A>G ENST00000393386.2 + 22 6263 c.5852A>G c.(5851-5853)cAg>cGg p.Q1951R PTPRZ1_ENST00000449182.1_Missense_Mutation_p.Q1084R NM_001206838.1|NM_002851.2 NP_001193767.1|NP_002842.2 P23471 PTPRZ_HUMAN protein tyrosine phosphatase, receptor-type, Z polypeptide 1 1951 Tyrosine-protein phosphatase 1. central nervous system development integral to plasma membrane protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2) 106 AGTATGTTGCAGCAGATTCAA 0.333000 17 38 0 0 1 0 0 TENM2 57451 broad.mit.edu 37 5 167642227 167642227 + Missense_Mutation SNP G G A TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr5:167642227G>A ENST00000519204.1 + 20 3783 c.3665G>A c.(3664-3666)cGc>cAc p.R1222H TENM2_ENST00000545108.1_Missense_Mutation_p.R1342H|TENM2_ENST00000518659.1_Missense_Mutation_p.R1343H|TENM2_ENST00000520394.1_Missense_Mutation_p.R1104H|TENM2_ENST00000403607.2_Missense_Mutation_p.R1167H teneurin transmembrane protein 2 GATGAAGCCCGCTGCGGGGAT 0.562000 11 103 0 0 1 0 0 ARL8B 55207 broad.mit.edu 37 3 5164178 5164178 + Missense_Mutation SNP G G A TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr3:5164178G>A ENST00000256496.3 + 1 274 c.28G>A c.(28-30)Gac>Aac p.D10N ARL8B_ENST00000419534.2_Missense_Mutation_p.D10N NM_018184.2 NP_060654.1 Q9NVJ2 ARL8B_HUMAN ADP-ribosylation factor-like 8B 10 cell cycle|cell division|chromosome segregation|small GTPase mediated signal transduction late endosome membrane|lysosomal membrane|midbody|spindle midzone alpha-tubulin binding|beta-tubulin binding|GDP binding|GTP binding|GTPase activity breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|pancreas(1)|skin(1) 9 OV - Ovarian serous cystadenocarcinoma(96;0.0717)|Epithelial(13;0.0777) CCGCCTGCTGGACTGGTTCCG 0.652000 9 37 0 0 1 0 0 ARHGAP36 158763 broad.mit.edu 37 X 130219639 130219639 + Nonsense_Mutation SNP G G T TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chrX:130219639G>T ENST00000276211.5 + 8 1378 c.1033G>T c.(1033-1035)Gag>Tag p.E345* ARHGAP36_ENST00000370921.1_Nonsense_Mutation_p.E209*|ARHGAP36_ENST00000370922.1_Nonsense_Mutation_p.E333* NM_144967.3 NP_659404.2 Q6ZRI8 RHG36_HUMAN Rho GTPase activating protein 36 345 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2) 71 TGATACCCTGGAGCGTCTGCT 0.493000 32 289 5.90632e-09 7.42698e-09 1 1 0 LASP1 3927 broad.mit.edu 37 17 37074911 37074911 + Silent SNP C C T TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr17:37074911C>T ENST00000318008.6 + 7 997 c.666C>T c.(664-666)tcC>tcT p.S222S LASP1_ENST00000433206.2_Silent_p.S166S|LASP1_ENST00000435347.3_Silent_p.S222S NM_006148.2 NP_006139.1 Q14847 LASP1_HUMAN LIM and SH3 protein 1 222 SH3. cortical actin cytoskeleton ion transmembrane transporter activity|SH3/SH2 adaptor activity|zinc ion binding breast(1)|large_intestine(2)|lung(4)|urinary_tract(2) 9 ACGAGGTCTCCTTCCAGGACG 0.672000 T MLL AML 13 128 0 0 1 0 0 TGFBR3 7049 broad.mit.edu 37 1 92200336 92200336 + Nonsense_Mutation SNP C C A TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr1:92200336C>A ENST00000212355.4 - 5 1030 c.565G>T c.(565-567)Gaa>Taa p.E189* TGFBR3_ENST00000370399.2_Nonsense_Mutation_p.E189*|TGFBR3_ENST00000468996.2_5'UTR|TGFBR3_ENST00000525962.1_Nonsense_Mutation_p.E189* NM_001195683.1|NM_003243.4 NP_001182612.1|NP_003234.2 Q03167 TGBR3_HUMAN transforming growth factor, beta receptor III 189 BMP signaling pathway|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cell growth|cell migration|definitive erythrocyte differentiation|heart trabecula formation|immune response|intracellular protein kinase cascade|liver development|negative regulation of cellular component movement|negative regulation of epithelial cell proliferation|palate development|pathway-restricted SMAD protein phosphorylation|response to follicle-stimulating hormone stimulus|response to luteinizing hormone stimulus|response to prostaglandin E stimulus|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis external side of plasma membrane|extracellular space|inhibin-betaglycan-ActRII complex|integral to plasma membrane|intracellular membrane-bounded organelle coreceptor activity|heparin binding|PDZ domain binding|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type III|type II transforming growth factor beta receptor binding endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3) 55 all_lung(203;0.00719)|Lung NSC(277;0.0268) all cancers(265;0.0108)|Epithelial(280;0.0825) AATTTACCTTCCCCCACTTTA 0.373000 9 141 3.09899e-07 3.7232e-07 1 1 0 FMN2 56776 broad.mit.edu 37 1 240421289 240421289 + Silent SNP A A T TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr1:240421289A>T ENST00000319653.9 + 7 4340 c.4110A>T c.(4108-4110)atA>atT p.I1370I FMN2_ENST00000545751.1_Intron NM_020066.4 NP_064450.3 Q9NZ56 FMN2_HUMAN formin 2 1370 FH2. actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions actin binding NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2) 178 Ovarian(103;0.127) all_cancers(173;0.013) OV - Ovarian serous cystadenocarcinoma(106;0.0106) CAGTTGGAATACTAATGTCTA 0.323000 5 58 0 0 1 0 0 MFI2 4241 broad.mit.edu 37 3 196735714 196735714 + Nonsense_Mutation SNP G G A TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr3:196735714G>A ENST00000296350.5 - 12 1761 c.1648C>T c.(1648-1650)Cag>Tag p.Q550* NM_005929.5 NP_005920.2 P08582 TRFM_HUMAN antigen p97 (melanoma associated) identified by monoclonal antibodies 133.2 and 96.5 550 Transferrin-like 2. cellular iron ion homeostasis|iron ion transport anchored to membrane|extracellular region|integral to plasma membrane ferric iron binding|protein binding breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(1) 20 all_cancers(143;3.95e-09)|Ovarian(172;0.0634)|Breast(254;0.0838) Epithelial(36;4.55e-24)|all cancers(36;2.87e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00536) TACCGCTCCTGGCTGTTGCCC 0.672000 25 81 0 0 1 0 0 NR4A1 3164 broad.mit.edu 37 12 52435709 52435709 + Missense_Mutation SNP G G C TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr12:52435709G>C ENST00000545748.1 + 2 1151 c.156G>C c.(154-156)caG>caC p.Q52H NR4A1_ENST00000360284.3_Missense_Mutation_p.Q11H|NR4A1_ENST00000550082.1_Missense_Mutation_p.Q11H P22736 NR4A1_HUMAN nuclear receptor subfamily 4, group A, member 1 0 nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor steroid hormone receptor activity|zinc ion binding endometrium(2)|kidney(2)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2) 16 BRCA - Breast invasive adenocarcinoma(357;0.0967) GGTCCATCCAGAGTGGTAAGT 0.627000 3 11 0 0 1 0 0 IRGQ 126298 broad.mit.edu 37 19 44099475 44099475 + Missense_Mutation SNP C C G TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr19:44099475C>G ENST00000422989.1 - 2 171 c.16G>C c.(16-18)Ggt>Cgt p.G6R IRGQ_ENST00000602269.1_Missense_Mutation_p.G6R NM_001007561.2 NP_001007562.1 Q8WZA9 IRGQ_HUMAN immunity-related GTPase family, Q 6 protein binding endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(3) 18 Prostate(69;0.0199) GTCACGTCACCCTGCGGCGGA 0.657000 20 68 0 0 1 0 0 F12 2161 broad.mit.edu 37 5 176829621 176829621 + Missense_Mutation SNP A A T TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr5:176829621A>T ENST00000253496.3 - 13 1658 c.1610T>A c.(1609-1611)gTg>gAg p.V537E NM_000505.3 NP_000496.2 P00748 FA12_HUMAN coagulation factor XII (Hageman factor) 537 Peptidase S1. Factor XII activation|fibrinolysis|innate immune response|positive regulation of blood coagulation|positive regulation of fibrinolysis|positive regulation of plasminogen activation|protein autoprocessing|response to misfolded protein|zymogen activation extracellular space|plasma membrane serine-type endopeptidase activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1) 12 all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GGATCCGTGCACGTCCGGGGC 0.672000 Hereditary Angioedema 5 46 0 0 1 0 0 SLC5A2 6524 broad.mit.edu 37 16 31501658 31501658 + Silent SNP C C T TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr16:31501658C>T ENST00000330498.3 + 14 1840 c.1821C>T c.(1819-1821)ttC>ttT p.F607F C16orf58_ENST00000327237.2_3'UTR|C16orf58_ENST00000570164.1_3'UTR|C16orf58_ENST00000567994.1_3'UTR|SLC5A2_ENST00000564197.1_Intron NM_003041.3 NP_003032.1 P31639 SC5A2_HUMAN solute carrier family 5 (sodium/glucose cotransporter), member 2 607 carbohydrate metabolic process integral to membrane low-affinity glucose:sodium symporter activity endometrium(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1) 25 CAAGCCTCTTCCGCCAGTGCC 0.657000 3 20 0 0 1 0 0 GABRA1 2554 broad.mit.edu 37 5 161324163 161324163 + Missense_Mutation SNP C C G TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr5:161324163C>G ENST00000428797.2 + 11 1461 c.1106C>G c.(1105-1107)gCt>gGt p.A369G GABRA1_ENST00000420560.1_Missense_Mutation_p.A369G|GABRA1_ENST00000393943.4_Missense_Mutation_p.A369G|GABRA1_ENST00000444819.1_Missense_Mutation_p.A369G|GABRA1_ENST00000023897.6_Missense_Mutation_p.A369G|GABRA1_ENST00000437025.2_Missense_Mutation_p.A369G NM_001127643.1 NP_001121115.1 P14867 GBRA1_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 1 369 gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1) 42 Renal(175;0.00259) Medulloblastoma(196;0.0208)|all_neural(177;0.0672) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.228) Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425) AACACTTACGCTCCAACAGCA 0.433000 15 103 0 0 1 0 0 OR5F1 338674 broad.mit.edu 37 11 55761590 55761590 + Missense_Mutation SNP G G C TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr11:55761590G>C ENST00000278409.1 - 1 511 c.512C>G c.(511-513)tCc>tGc p.S171C NM_003697.1 NP_003688.1 O95221 OR5F1_HUMAN olfactory receptor, family 5, subfamily F, member 1 171 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 58 Esophageal squamous(21;0.00448) GATGACATTGGAGTCACAGAA 0.468000 15 58 0 0 1 0 0 RPS28 6234 broad.mit.edu 37 19 8386927 8386927 + Missense_Mutation SNP G G C TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr19:8386927G>C ENST00000600659.2 + 3 209 c.178G>C c.(178-180)Gag>Cag p.E60Q NM_001031.4 NP_001022.1 P62857 RS28_HUMAN ribosomal protein S28 60 endocrine pancreas development|ribosomal small subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription cytosolic small ribosomal subunit protein binding|structural constituent of ribosome CACCCTTTTGGAGTCAGAGCG 0.602000 4 24 0 0 1 0 0 OR1L1 26737 broad.mit.edu 37 9 125424013 125424013 + Missense_Mutation SNP A A T TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr9:125424013A>T ENST00000373686.1 + 1 169 c.169A>T c.(169-171)Aca>Tca p.T57S Q8NH94 OR1L1_HUMAN olfactory receptor, family 1, subfamily L, member 1 57 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1) 17 AAATAACCTAACAAGACCCTC 0.428000 22 39 0 0 1 0 0 WSCD2 9671 broad.mit.edu 37 12 108642061 108642061 + Missense_Mutation SNP G G T TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr12:108642061G>T ENST00000332082.4 + 10 2457 c.1639G>T c.(1639-1641)Gat>Tat p.D547Y WSCD2_ENST00000261400.3_Missense_Mutation_p.D567Y|WSCD2_ENST00000547525.1_Missense_Mutation_p.D547Y|WSCD2_ENST00000549903.1_Missense_Mutation_p.D567Y Q2TBF2 WSCD2_HUMAN WSC domain containing 2 547 integral to membrane breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 57 CAAGATGGTGGATGCAGCCCT 0.567000 6 57 5.9392e-07 7.09755e-07 1 1 0 ZDHHC4 55146 broad.mit.edu 37 7 6628287 6628287 + Missense_Mutation SNP G G T TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr7:6628287G>T ENST00000396706.2 + 8 1224 c.781G>T c.(781-783)Ggc>Tgc p.G261C ZDHHC4_ENST00000396713.2_Missense_Mutation_p.G261C|ZDHHC4_ENST00000405731.3_Missense_Mutation_p.G261C|ZDHHC4_ENST00000335965.6_Missense_Mutation_p.G261C|AC079742.4_ENST00000434951.1_RNA|ZDHHC4_ENST00000396707.2_Missense_Mutation_p.G261C|ZDHHC4_ENST00000396709.1_Missense_Mutation_p.G261C Q9NPG8 ZDHC4_HUMAN zinc finger, DHHC-type containing 4 261 integral to membrane acyltransferase activity|zinc ion binding breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 19 Ovarian(82;0.232) UCEC - Uterine corpus endometrioid carcinoma (126;0.1) CTTCATGCTGGGCTTTGTCGT 0.512000 20 223 4.35082e-09 5.50178e-09 1 1 0 KREMEN2 79412 broad.mit.edu 37 16 3016181 3016181 + Missense_Mutation SNP G G C TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr16:3016181G>C ENST00000572045.1 + 3 615 c.310G>C c.(310-312)Gag>Cag p.E104Q KREMEN2_ENST00000319500.6_Missense_Mutation_p.E104Q|KREMEN2_ENST00000303746.5_Missense_Mutation_p.E104Q|KREMEN2_ENST00000575885.1_Missense_Mutation_p.E104Q|KREMEN2_ENST00000571007.1_Missense_Mutation_p.E104Q|KREMEN2_ENST00000575769.1_Missense_Mutation_p.E104Q NM_172229.2 NP_757384.1 Q8NCW0 KREM2_HUMAN kringle containing transmembrane protein 2 104 Kringle. Wnt receptor signaling pathway integral to membrane central_nervous_system(2)|endometrium(1)|large_intestine(1) 4 CTACGTGGCTGAGACAGAGGA 0.642000 15 92 0 0 1 0 0 WHAMMP3 339005 broad.mit.edu 37 15 23191892 23191892 + RNA SNP C C A TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr15:23191892C>A ENST00000400153.2 - 0 1804 NR_003521.1 CTGTTGCAATCTGAGCCAATG 0.398000 6 45 0.248553 0.248922 1 1 0 UGT2B28 54490 broad.mit.edu 37 4 70146307 70146307 + Missense_Mutation SNP C C G TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr4:70146307C>G ENST00000335568.5 + 1 91 c.89C>G c.(88-90)aCc>aGc p.T30S UGT2B28_ENST00000511240.1_Missense_Mutation_p.T30S NM_053039.1 NP_444267.1 Q9BY64 UDB28_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B28 30 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) CTGGTGTGGACCGGTGAATAC 0.468000 46 67 0 0 1 0 0 USP28 57646 broad.mit.edu 37 11 113705003 113705003 + Nonsense_Mutation SNP G G A TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr11:113705003G>A ENST00000003302.4 - 6 657 c.589C>T c.(589-591)Caa>Taa p.Q197* USP28_ENST00000537706.1_Nonsense_Mutation_p.Q197*|USP28_ENST00000542033.1_5'UTR|USP28_ENST00000260188.5_Nonsense_Mutation_p.Q197*|USP28_ENST00000545540.1_Nonsense_Mutation_p.Q72* NM_020886.2 NP_065937.1 Q96RU2 UBP28_HUMAN ubiquitin specific peptidase 28 197 cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process nucleolus|nucleoplasm protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 59 all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425) BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104) AGTACATTTTGTGGCAGACTA 0.358000 8 22 0 0 1 0 0 SLC17A3 10786 broad.mit.edu 37 6 25862525 25862525 + Missense_Mutation SNP G G T TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr6:25862525G>T ENST00000397060.4 - 3 348 c.239C>A c.(238-240)tCt>tAt p.S80Y SLC17A3_ENST00000361703.6_Missense_Mutation_p.S80Y|SLC17A3_ENST00000360657.3_Missense_Mutation_p.S80Y NM_001098486.1 NP_001091956.1 O00476 NPT4_HUMAN solute carrier family 17 (organic anion transporter), member 3 80 glucose-6-phosphate transport|urate metabolic process apical plasma membrane|brush border membrane|endoplasmic reticulum membrane|integral to plasma membrane|perinuclear region of cytoplasm drug transmembrane transporter activity|efflux transmembrane transporter activity|organic anion transmembrane transporter activity|sodium:phosphate symporter activity|toxin transporter activity|urate transmembrane transporter activity|voltage-gated anion channel activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(10)|prostate(1) 20 CAGCACCTCAGAGGAATCATT 0.428000 10 58 7.48243e-07 8.84764e-07 1 1 0 F8 2157 broad.mit.edu 37 X 154158125 154158125 + Missense_Mutation SNP T T C TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chrX:154158125T>C ENST00000360256.4 - 14 4140 c.3940A>G c.(3940-3942)Aca>Gca p.T1314A NM_000132.3 NP_000123.1 P00451 FA8_HUMAN coagulation factor VIII, procoagulant component 1314 B. acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation extracellular space|plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity|protein binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2) 120 all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055) GATATCCTTGTGGTGCATGCA 0.393000 17 71 0 0 1 0 0 ESR1 2099 broad.mit.edu 37 6 152201857 152201857 + Nonsense_Mutation SNP C C A TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr6:152201857C>A ENST00000440973.1 + 5 1081 c.711C>A c.(709-711)tgC>tgA p.C237* ESR1_ENST00000456483.2_Nonsense_Mutation_p.C237*|ESR1_ENST00000544394.1_Nonsense_Mutation_p.C64*|ESR1_ENST00000338799.5_Nonsense_Mutation_p.C237*|ESR1_ENST00000406599.1_Intron|ESR1_ENST00000443427.1_Nonsense_Mutation_p.C237*|ESR1_ENST00000206249.3_Nonsense_Mutation_p.C237* NM_001122742.1 NP_001116214.1 P03372 ESR1_HUMAN estrogen receptor 1 237 Mediates interaction with DNTTIP2. positive regulation of retinoic acid receptor signaling pathway|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to estradiol stimulus chromatin remodeling complex|cytoplasm|nucleoplasm beta-catenin binding|enzyme binding|estrogen receptor activity|estrogen response element binding|nitric-oxide synthase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(19)|ovary(1)|prostate(2)|skin(1) 49 Ovarian(120;0.0448) BRCA - Breast invasive adenocarcinoma(37;0.0841) OV - Ovarian serous cystadenocarcinoma(155;4.55e-10) Chlorotrianisene(DB00269)|Clomifene(DB00882)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Desogestrel(DB00304)|Dienestrol(DB00890)|Diethylstilbestrol(DB00255)|Dromostanolone(DB00858)|Drospirenone(DB01395)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Fluoxymesterone(DB01185)|Fulvestrant(DB00947)|Letrozole(DB01006)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Melatonin(DB01065)|Mestranol(DB01357)|Naloxone(DB01183)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)|Quinestrol(DB04575)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Toremifene(DB00539) GGAAGAGCTGCCAGGCCTGCC 0.507000 17 35 4.7546e-09 6.00113e-09 1 1 0 PDE3A 5139 broad.mit.edu 37 12 20523114 20523114 + Missense_Mutation SNP A A G TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr12:20523114A>G ENST00000359062.3 + 1 936 c.896A>G c.(895-897)gAg>gGg p.E299G RP11-284H19.1_ENST00000535755.1_RNA NM_000921.4|NM_001244683.1 NP_000912.3|NP_001231612.1 Q14432 PDE3A_HUMAN phosphodiesterase 3A, cGMP-inhibited 299 lipid metabolic process|platelet activation|signal transduction cytosol|integral to membrane 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 58 Esophageal squamous(101;0.125) Breast(259;0.134) Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277) GTGTCCGCCGAGATGTCCGGC 0.597000 5 59 0 0 1 0 0 TRAV8-3 28683 broad.mit.edu 37 14 22321003 22321003 + RNA SNP G G A TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr14:22321003G>A ENST00000390435.1 + 0 161 TATCTCTTCTGGTATGTCCAG 0.502000 3 23 0 0 1 0 0 IGHV3-16 28447 broad.mit.edu 37 14 106622077 106622077 + RNA SNP G G T TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr14:106622077G>T ENST00000390604.2 - 0 241 GAGCCTTGCGGGCCCAGTTCA 0.577000 47 226 3.31993e-32 4.83289e-32 1 1 0 PIK3AP1 118788 broad.mit.edu 37 10 98416556 98416556 + Splice_Site SNP C C A TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr10:98416556C>A ENST00000339364.5 - 3 685 c.567_splice c.e3+1 p.G189_splice PIK3AP1_ENST00000468783.1_5'UTR|PIK3AP1_ENST00000371110.2_Splice_Site_p.G11_splice NM_152309.2 NP_689522.2 Q6ZUJ8 BCAP_HUMAN phosphoinositide-3-kinase adaptor protein 1 189 DBB. cytoplasm|plasma membrane NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(27)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4) 52 Colorectal(252;0.0442) Epithelial(162;6.29e-08)|all cancers(201;3.18e-06) AGTGCCTACCCCACAGCGAAT 0.547000 20 182 1.9806e-07 2.41834e-07 1 1 0 XAB2 56949 broad.mit.edu 37 19 7684939 7684939 + Missense_Mutation SNP C C G TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr19:7684939C>G ENST00000358368.4 - 17 2326 c.2289G>C c.(2287-2289)caG>caC p.Q763H XAB2_ENST00000534844.1_Missense_Mutation_p.Q760H NM_020196.2 NP_064581.2 Q9HCS7 SYF1_HUMAN XPA binding protein 2 763 transcription, DNA-dependent|transcription-coupled nucleotide-excision repair catalytic step 2 spliceosome|nucleoplasm protein binding breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1) 26 CCATGCCACTCTGCCCAGGGG 0.677000 Direct reversal of damage;Nucleotide excision repair (NER) 8 36 0 0 1 0 0 ATRIP 84126 broad.mit.edu 37 3 48501964 48501964 + Missense_Mutation SNP C C T TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr3:48501964C>T ENST00000412052.1 + 8 1694 c.1232C>T c.(1231-1233)tCt>tTt p.S411F ATRIP_ENST00000357105.6_Missense_Mutation_p.S377F|ATRIP_ENST00000346691.4_Missense_Mutation_p.S504F|ATRIP_ENST00000320211.3_Missense_Mutation_p.S504F NM_001271023.1 NP_001257952.1 Q8WXE1 ATRIP_HUMAN ATR interacting protein 504 DNA damage checkpoint|DNA repair|DNA replication nucleoplasm protein binding|protein serine/threonine kinase activity central_nervous_system(1)|cervix(2)|endometrium(1)|large_intestine(6)|lung(8)|ovary(3)|prostate(1) 22 BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) GGGGCAGATTCTGCTGCTGGG 0.557000 Other conserved DNA damage response genes 9 69 0 0 1 0 0 MTL5 9633 broad.mit.edu 37 11 68517774 68517774 + Missense_Mutation SNP C C A TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr11:68517774C>A ENST00000443940.2 - 2 441 c.355G>T c.(355-357)Gcc>Tcc p.A119S MTL5_ENST00000544963.1_Missense_Mutation_p.A119S|MTL5_ENST00000255087.5_Missense_Mutation_p.A119S Q9Y4I5 MTL5_HUMAN metallothionein-like 5, testis-specific (tesmin) 119 cell differentiation|cellular metal ion homeostasis|multicellular organismal development|response to metal ion|spermatogenesis cytoplasm|nucleus|soluble fraction metal ion binding breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2) 15 Esophageal squamous(3;4.37e-12) LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.185) ACGTTGCAGGCGGGCGGCTGC 0.751000 9 26 1.76689e-08 2.20534e-08 1 1 0 NELFA 7469 broad.mit.edu 37 4 1985623 1985623 + Missense_Mutation SNP C C G TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr4:1985623C>G ENST00000382882.3 - 9 2404 c.1287G>C c.(1285-1287)caG>caC p.Q429H NELFA_ENST00000411638.1_Missense_Mutation_p.Q418H|NELFA_ENST00000542778.1_Missense_Mutation_p.Q283H NM_005663.4 NP_005654.3 negative elongation factor complex member A GGGCCTGGGTCTGCGGGGCCA 0.677000 18 57 0 0 1 0 0 ATP7B 540 broad.mit.edu 37 13 52548368 52548368 + Missense_Mutation SNP C C G TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr13:52548368C>G ENST00000242839.4 - 2 1144 c.988G>C c.(988-990)Gga>Cga p.G330R ATP7B_ENST00000482841.1_5'UTR|ATP7B_ENST00000448424.2_Missense_Mutation_p.G330R|ATP7B_ENST00000400370.3_Missense_Mutation_p.G330R|ATP7B_ENST00000400366.3_Intron|ATP7B_ENST00000344297.5_Missense_Mutation_p.G330R|ATP7B_ENST00000418097.2_Missense_Mutation_p.G330R|ATP7B_ENST00000542656.1_Missense_Mutation_p.G298R NM_000053.3 NP_000044.2 P35670 ATP7B_HUMAN ATPase, Cu++ transporting, beta polypeptide 330 ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion Golgi membrane|integral to plasma membrane|late endosome|mitochondrion ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2) 55 Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19) GBM - Glioblastoma multiforme(99;5.25e-08) CCTTCGGCTCCATCAGGAAGA 0.537000 Wilson disease 13 93 0 0 1 0 0 STAB2 55576 broad.mit.edu 37 12 104031793 104031793 + Splice_Site SNP G G T TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr12:104031793G>T ENST00000388887.2 + 8 913 c.e8-1 NM_017564.9 NP_060034.9 Q8WWQ8 STAB2_HUMAN stabilin 2 angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis cytoplasm|external side of plasma membrane|integral to plasma membrane Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2) 174 TGCCTCTCAAGCCATCAATCC 0.478000 8 116 0.00307968 0.00322314 1 1 0 ASTN1 460 broad.mit.edu 37 1 177001653 177001653 + Silent SNP G G T TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr1:177001653G>T ENST00000367654.2 - 3 817 c.804C>A c.(802-804)gtC>gtA p.V268V ASTN1_ENST00000367657.3_Silent_p.V268V|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000424564.2_Silent_p.V268V|ASTN1_ENST00000361833.2_Silent_p.V268V O14525 ASTN1_HUMAN astrotactin 1 268 cell migration|neuron cell-cell adhesion integral to membrane NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3) 153 GGGTGCGCGTGACCTGGCTGG 0.587000 12 106 2.27111e-07 2.74817e-07 1 1 0 NLRP4 147945 broad.mit.edu 37 19 56363580 56363580 + Missense_Mutation SNP C C G TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr19:56363580C>G ENST00000301295.6 + 2 556 c.134C>G c.(133-135)aCt>aGt p.T45S NLRP4_ENST00000346986.5_Missense_Mutation_p.T45S NM_134444.4 NP_604393.2 Q96MN2 NALP4_HUMAN NLR family, pyrin domain containing 4 45 DAPIN. ATP binding breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8) 42 Colorectal(82;0.0002)|Ovarian(87;0.221) GBM - Glioblastoma multiforme(193;0.0606) ATTCCCTGGACTGAGGTCAAA 0.408000 8 60 0 0 1 0 0 MED12 9968 broad.mit.edu 37 X 70343074 70343074 + Missense_Mutation SNP G G A TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chrX:70343074G>A ENST00000333646.6 + 11 1814 c.1615G>A c.(1615-1617)Gag>Aag p.E539K MED12_ENST00000374102.1_Missense_Mutation_p.E539K|MED12_ENST00000374080.3_Missense_Mutation_p.E539K NM_005120.2 NP_005111.2 Q93074 MED12_HUMAN mediator complex subunit 12 539 androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3) 420 Renal(35;0.156) GATTGAGGCTGAGGTTAGAGG 0.532000 """M, S""" uterine leiomyoma Opitz-Kaveggia Syndrome 7 55 0 0 1 0 0 TMEM259 91304 broad.mit.edu 37 19 1011098 1011098 + Missense_Mutation SNP G G C TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr19:1011098G>C ENST00000356663.3 - 10 1435 c.1314C>G c.(1312-1314)atC>atG p.I438M TMEM259_ENST00000333175.5_Intron NM_001033026.1 NP_001028198.1 transmembrane protein 259 GCCTCACCTGGATGAAGAGCC 0.632000 5 10 0 0 1 0 0 CYP17A1 1586 broad.mit.edu 37 10 104592752 104592752 + Missense_Mutation SNP G G C TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr10:104592752G>C ENST00000369887.3 - 5 1138 c.967C>G c.(967-969)Cag>Gag p.Q323E CYP17A1-AS1_ENST00000369884.4_RNA NM_000102.3 NP_000093.1 P05093 CP17A_HUMAN cytochrome P450, family 17, subfamily A, polypeptide 1 323 androgen biosynthetic process|glucocorticoid biosynthetic process|sex differentiation|xenobiotic metabolic process endoplasmic reticulum membrane electron carrier activity|heme binding|oxygen binding|steroid 17-alpha-monooxygenase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2) 18 Colorectal(252;0.122)|all_hematologic(284;0.152) Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215) NADH(DB00157)|Progesterone(DB00396) AAGCACACCTGAGGATTGTGC 0.557000 5 47 0 0 1 0 0 KLK2 3817 broad.mit.edu 37 19 51378024 51378024 + Nonsense_Mutation SNP G G C TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr19:51378024G>C ENST00000594218.1 - 1 16 c.17C>G c.(16-18)tCa>tGa p.S6* KLK2_ENST00000391810.2_Intron|KLK2_ENST00000358049.4_Missense_Mutation_p.E32Q|KLK2_ENST00000325321.3_Missense_Mutation_p.E32Q|KLK2_ENST00000597509.1_3'UTR CTGGGAGTGTGAGAAGCATTC 0.622000 8 66 0 0 1 0 0 QTRT1 81890 broad.mit.edu 37 19 10823666 10823666 + Missense_Mutation SNP G G T TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr19:10823666G>T ENST00000250237.5 + 9 1019 c.1009G>T c.(1009-1011)Gac>Tac p.D337Y NM_031209.2 NP_112486.1 Q9BXR0 TGT_HUMAN queuine tRNA-ribosyltransferase 1 337 queuosine biosynthetic process mitochondrion|nucleus|ribosome metal ion binding|queuine tRNA-ribosyltransferase activity large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1) 12 Epithelial(33;1.55e-05)|all cancers(31;3.42e-05) GCTGCACAGTGACAACACGGC 0.687000 16 22 1.56452e-12 2.10898e-12 1 1 0 DNAJC13 23317 broad.mit.edu 37 3 132213090 132213090 + Missense_Mutation SNP C C G TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr3:132213090C>G ENST00000260818.6 + 34 4176 c.3928C>G c.(3928-3930)Caa>Gaa p.Q1310E NM_015268.3 NP_056083.3 O75165 DJC13_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 13 1310 J. heat shock protein binding breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1) 34 TAATCTGCCTCAAGGACAGGG 0.368000 6 56 0 0 1 0 0 ASTL 431705 broad.mit.edu 37 2 96795868 96795868 + Frame_Shift_Del DEL G G - TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr2:96795868delG ENST00000342380.2 - 7 653 c.654delC c.(652-654)ttfs p.F218fs NM_001002036.3 NP_001002036.3 Q6HA08 ASTL_HUMAN astacin-like metallo-endopeptidase (M12 family) 218 proteolysis metalloendopeptidase activity|zinc ion binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(2) 30 GAGACTTGATGAAGTTGATTT 0.473 18 73 --- --- --- --- SLC4A3 6508 broad.mit.edu 37 2 220498110 220498110 + Frame_Shift_Del DEL G G - TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr2:220498110delG ENST00000358055.3 + 10 1904 c.1392delG c.(1390-1392)gcfs p.A464fs SLC4A3_ENST00000373762.3_Frame_Shift_Del_p.A491fs|SLC4A3_ENST00000273063.6_Frame_Shift_Del_p.A491fs|SLC4A3_ENST00000373760.2_Frame_Shift_Del_p.A464fs|SLC4A3_ENST00000317151.3_Frame_Shift_Del_p.A464fs P48751 B3A3_HUMAN solute carrier family 4 (anion exchanger), member 3 464 bicarbonate transport integral to plasma membrane|membrane fraction inorganic anion exchanger activity breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2) 51 Renal(207;0.0183) Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) CTGATGGGGCGGTGCCTACCA 0.617 18 88 --- --- --- --- AHSG 197 broad.mit.edu 37 3 186331091 186331091 + Frame_Shift_Del DEL G G - TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr3:186331091delG ENST00000411641.2 + 1 380 c.161delG c.(160-162)tgfs p.W54fs AHSG_ENST00000273784.5_Frame_Shift_Del_p.W54fs P02765 FETUA_HUMAN alpha-2-HS-glycoprotein 54 Cystatin fetuin-A-type 1. W -> K (in Ref. 8; AA sequence). acute-phase response|negative regulation of bone mineralization|negative regulation of insulin receptor signaling pathway|pinocytosis|positive regulation of phagocytosis|regulation of inflammatory response|skeletal system development extracellular space cysteine-type endopeptidase inhibitor activity|protein binding central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(2)|stomach(1) 22 all_cancers(143;3.64e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;3.27e-20) GBM - Glioblastoma multiforme(93;0.0463) AACCTTCCTTGGGGATACAAA 0.463 12 42 --- --- --- --- SLIT2 9353 broad.mit.edu 37 4 20568925 20568925 + Frame_Shift_Del DEL C C - TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr4:20568925delC ENST00000504154.1 + 27 3018 c.2766delC c.(2764-2766)tgfs p.C922fs SLIT2_ENST00000273739.5_Frame_Shift_Del_p.C926fs|SLIT2_ENST00000503823.1_Frame_Shift_Del_p.C914fs|SLIT2_ENST00000503837.1_Frame_Shift_Del_p.C918fs NM_004787.1 NP_004778.1 O94813 SLIT2_HUMAN slit homolog 2 (Drosophila) 922 EGF-like 1. apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development cell surface|cytoplasm|extracellular space|plasma membrane calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1) 116 GTAACCCCTGCCTATCAAATC 0.363 27 109 --- --- --- --- HSPA4 3308 broad.mit.edu 37 5 132406171 132406182 + In_Frame_Del DEL GTTGACTGTGTT GTTGACTGTGTT - TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr5:132406171_132406182delGTTGACTGTGTT ENST00000304858.2 + 4 701_712 c.412_423delGTTGACTGTGTT c.(412-423)del p.VDCV138del NM_002154.3 NP_002145.3 P34932 HSP74_HUMAN heat shock 70kDa protein 4 138 cellular chaperone-mediated protein complex assembly|protein import into mitochondrial outer membrane|response to unfolded protein cytoplasm|nucleus ATP binding NS(2)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|stomach(1) 32 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) GAAGCCTGTAGTTGACTGTGTTGTTTCGGTGA 0.396 7 58 --- --- --- --- BAI3 577 broad.mit.edu 37 6 70034912 70034912 + Frame_Shift_Del DEL G G - TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr6:70034912delG ENST00000370598.1 + 21 3784 c.2963delG c.(2962-2964)tgfs p.W988fs BAI3_ENST00000238918.8_Frame_Shift_Del_p.W194fs NM_001704.2 NP_001695.1 O60242 BAI3_HUMAN brain-specific angiogenesis inhibitor 3 988 negative regulation of angiogenesis|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 210 all_lung(197;0.212) TGCCTTGGATGGGGTAAGCAT 0.403 10 119 --- --- --- --- HOXA3 3200 broad.mit.edu 37 7 27148281 27148282 + Frame_Shift_Del DEL GC GC - TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr7:27148281_27148282delGC ENST00000396352.4 - 3 783_784 c.584_585delGC c.(583-585)cfs p.R195fs HOXA3_ENST00000317201.2_Frame_Shift_Del_p.R195fs|HOXA-AS2_ENST00000518088.1_RNA NM_030661.4 NP_109377.1 O43365 HXA3_HUMAN homeobox A3 195 angiogenesis nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(18)|skin(1) 29 TGTAGGCCGTGCGCGCGCGCTT 0.683 31 96 --- --- --- --- TNS3 64759 broad.mit.edu 37 7 47333403 47333404 + Frame_Shift_Del DEL CG CG - TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr7:47333403_47333404delCG ENST00000398879.1 - 25 4065_4066 c.3699_3700delCG c.(3697-3702)cttcfs p.LV1233fs TNS3_ENST00000355730.3_Frame_Shift_Del_p.LV993fs|TNS3_ENST00000311160.9_Frame_Shift_Del_p.LV1233fs Q68CZ2 TENS3_HUMAN tensin 3 1233 SH2. focal adhesion protein binding NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 64 AAGTGCCGGACGAGTTCATTGG 0.431 9 86 --- --- --- --- PLXNA4 91584 broad.mit.edu 37 7 131829986 131829986 + Frame_Shift_Del DEL C C - TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr7:131829986delC ENST00000359827.3 - 29 6079 c.5117delG c.(5116-5118)gcfs p.G1706fs PLXNA4_ENST00000321063.4_Frame_Shift_Del_p.G1706fs Q9HCM2 PLXA4_HUMAN plexin A4 1706 integral to membrane|intracellular|plasma membrane NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1) 45 CAGGGCAGAGCCACGGTGTGC 0.557 27 77 --- --- --- --- NIPAL2 79815 broad.mit.edu 37 8 99306335 99306335 + Frame_Shift_Del DEL C C - TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr8:99306335delC ENST00000341166.3 - 1 286 c.31delG c.(31-33)acfs p.D11fs NIPAL2_ENST00000430223.2_Frame_Shift_Del_p.D11fs NM_024759.1 NP_079035.1 Q9H841 NPAL2_HUMAN NIPA-like domain containing 2 11 integral to membrane cervix(3)|kidney(1)|large_intestine(2)|lung(5)|stomach(1) 12 GAGGCGGAGTCCCCGGGGCCC 0.751 2 4 --- --- --- --- NFIB 4781 broad.mit.edu 37 9 14179763 14179765 + Translation_Start_Site DEL TCC TCC - TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr9:14179763_14179765delTCC ENST00000543693.1 - 0 154_156 NFIB_ENST00000380959.3_In_Frame_Del_p.G193del|NFIB_ENST00000397575.3_In_Frame_Del_p.G193del|NFIB_ENST00000397581.2_In_Frame_Del_p.G193del|NFIB_ENST00000380953.1_In_Frame_Del_p.G193del|NFIB_ENST00000397579.2_In_Frame_Del_p.G193del|NFIB_ENST00000380924.1_De_novo_Start_OutOfFrame|NFIB_ENST00000380934.4_In_Frame_Del_p.G219del O00712 NFIB_HUMAN nuclear factor I/B anterior commissure morphogenesis|chondrocyte differentiation|Clara cell differentiation|commissural neuron axon guidance|DNA replication|glial cell differentiation|lung ciliated cell differentiation|negative regulation of DNA binding|negative regulation of epithelial cell proliferation involved in lung morphogenesis|negative regulation of mesenchymal cell proliferation involved in lung development|positive regulation of transcription from RNA polymerase II promoter|principal sensory nucleus of trigeminal nerve development|Type I pneumocyte differentiation|Type II pneumocyte differentiation cerebellar mossy fiber|nucleolus|nucleus RNA polymerase II transcription corepressor activity|sequence-specific DNA binding RNA polymerase II transcription factor activity central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(5)|skin(1) 17 GBM - Glioblastoma multiforme(50;4.4e-08)|LUAD - Lung adenocarcinoma(58;0.119)|Lung(218;0.164) GGCTTGGACTTCCTGATTGTCCA 0.355 T """MYB, HGMA2""" """adenoid cystic carcinoma, lipoma""" 17 34 --- --- --- --- CHAT 1103 broad.mit.edu 37 10 50835698 50835698 + Frame_Shift_Del DEL G G - TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr10:50835698delG ENST00000395562.2 + 8 1201 c.732delG c.(730-732)gafs p.E244fs CHAT_ENST00000337653.2_Frame_Shift_Del_p.E326fs|CHAT_ENST00000351556.3_Frame_Shift_Del_p.E208fs|CHAT_ENST00000395559.2_Frame_Shift_Del_p.E208fs|CHAT_ENST00000339797.1_Frame_Shift_Del_p.E208fs|CHAT_ENST00000455728.2_Frame_Shift_Del_p.E208fs NM_001142933.1|NM_001142934.1 NP_001136405.1|NP_001136406.1 P28329 CLAT_HUMAN choline O-acetyltransferase 326 neurotransmitter biosynthetic process|neurotransmitter secretion cytosol|nucleus choline O-acetyltransferase activity central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1) 56 all_neural(218;0.107) GBM - Glioblastoma multiforme(2;0.000585) Choline(DB00122) GTCTCAGTGAGGGGGATCTGT 0.527 24 273 --- --- --- --- NUP160 23279 broad.mit.edu 37 11 47861587 47861588 + Frame_Shift_Ins INS - - TGAC rs117931945 by1000genomes TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr11:47861587_47861588insTGAC ENST00000378460.2 - 4 601_602 c.555_556insGTCA c.(553-558)tctattfs p.I186fs NUP160_ENST00000526870.1_3'UTR|NUP160_ENST00000528071.1_Frame_Shift_Ins_p.I72fs|NUP160_ENST00000532747.1_Intron|NUP160_ENST00000530326.1_Frame_Shift_Ins_p.I72fs NM_015231.1 NP_056046.1 Q12769 NU160_HUMAN nucleoporin 160kDa 186 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|Nup107-160 complex nucleocytoplasmic transporter activity|protein binding NS(1)|biliary_tract(2)|breast(7)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(6)|prostate(2)|skin(2)|urinary_tract(2) 53 TCAGTGAATATTGACTGCATCT 0.366 16 57 --- --- --- --- ATG2A 23130 broad.mit.edu 37 11 64664242 64664242 + Frame_Shift_Del DEL G G - TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr11:64664242delG ENST00000421419.2 - 38 5370 c.5256delC c.(5254-5256)ccfs p.P1752fs ATG2A_ENST00000377264.3_Frame_Shift_Del_p.P1750fs Q2TAZ0 ATG2A_HUMAN autophagy related 2A 1750 protein binding breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3) 55 CCGAGTGCATGGGGCCCACGC 0.597 OREG0004026 type=REGULATORY REGION|Gene=BC027481|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 18 129 --- --- --- --- GAS2L3 283431 broad.mit.edu 37 12 101017660 101017660 + Frame_Shift_Del DEL G G - TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr12:101017660delG ENST00000537247.1 + 10 1719 c.765delG c.(763-765)ctfs p.L255fs GAS2L3_ENST00000547754.1_Frame_Shift_Del_p.L359fs|GAS2L3_ENST00000266754.5_Frame_Shift_Del_p.L359fs|GAS2L3_ENST00000539410.1_Frame_Shift_Del_p.L359fs Q86XJ1 GA2L3_HUMAN growth arrest-specific 2 like 3 359 GAR. cell cycle arrest endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 35 CATCTTCACTGAAAGGAGGTA 0.443 9 92 --- --- --- --- FICD 11153 broad.mit.edu 37 12 108912499 108912499 + Frame_Shift_Del DEL C C - TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr12:108912499delC ENST00000552695.1 + 3 859 c.624delC c.(622-624)atfs p.I208fs FICD_ENST00000361549.2_3'UTR NM_007076.2 NP_009007.2 Q9BVA6 FICD_HUMAN FIC domain containing 208 negative regulation of Rho GTPase activity integral to membrane binding|protein adenylyltransferase activity NS(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(1)|prostate(1)|upper_aerodigestive_tract(2) 15 TCATGTCCATCCCCAAGGGGA 0.552 9 39 --- --- --- --- SERPINA11 256394 broad.mit.edu 37 14 94914807 94914807 + Frame_Shift_Del DEL C C - TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr14:94914807delC ENST00000334708.3 - 2 369 c.305delG c.(304-306)gcfs p.G102fs RP11-349I1.2_ENST00000536735.1_RNA NM_001080451.1 NP_001073920.1 Q86U17 SPA11_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 11 102 regulation of proteolysis extracellular region serine-type endopeptidase inhibitor activity breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(14)|skin(1)|upper_aerodigestive_tract(1) 24 COAD - Colon adenocarcinoma(157;0.211) GAATCCCAGGCCCTCCAGGAT 0.612 37 98 --- --- --- --- TECPR2 9895 broad.mit.edu 37 14 102900698 102900702 + Frame_Shift_Del DEL GCGTG GCGTG - rs141697267 byFrequency TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr14:102900698_102900702delGCGTG ENST00000359520.7 + 9 1770_1774 c.1544_1548delGCGTG c.(1543-1548)afs p.SV515fs TECPR2_ENST00000558678.1_Frame_Shift_Del_p.SV515fs NM_014844.3 NP_055659.2 O15040 TCPR2_HUMAN tectonin beta-propeller repeat containing 2 515 protein binding breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(21)|ovary(2)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1) 50 CTGGGCAGTAGCGTGGATCAGTTAA 0.527 17 65 --- --- --- --- CCDC144NL-AS1 440416 broad.mit.edu 37 17 20899787 20899787 + RNA DEL C C - TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr17:20899787delC ENST00000581958.1 + 0 794 RP11-344E13.3_ENST00000583481.1_RNA|RP11-344E13.3_ENST00000423473.2_RNA CTGATACCCGCCCTGTCCCTA 0.607 2 4 --- --- --- --- PSG9 5678 broad.mit.edu 37 19 43766108 43766111 + Frame_Shift_Del DEL ATAG ATAG - TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chr19:43766108_43766111delATAG ENST00000244293.7 - 3 676_679 c.610_613delCTAT c.(610-615)ttfs p.LF204fs PSG9_ENST00000291752.5_Intron|PSG9_ENST00000418820.2_Intron|PSG9_ENST00000270077.3_Frame_Shift_Del_p.LF204fs|PSG9_ENST00000596730.1_Intron|PSG9_ENST00000443718.3_Intron|PSG9_ENST00000593948.1_Frame_Shift_Del_p.LF204fs Q00887 PSG9_HUMAN pregnancy specific beta-1-glycoprotein 9 204 Ig-like C2-type 1. female pregnancy extracellular region central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 41 Prostate(69;0.00682) GTGACACCAAATAGATAGAGGGTC 0.510 7 390 --- --- --- --- STS 412 broad.mit.edu 37 X 7252129 7252130 + Frame_Shift_Del DEL GC GC - TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chrX:7252129_7252130delGC ENST00000217961.4 + 9 1579_1580 c.1359_1360delGC c.(1357-1362)gtgcfs p.VR453fs NM_000351.4 NP_000342.2 P08842 STS_HUMAN steroid sulfatase (microsomal), isozyme S 453 female pregnancy|steroid catabolic process endoplasmic reticulum membrane|endosome|Golgi apparatus|integral to membrane|lysosome|microsome|plasma membrane metal ion binding|steryl-sulfatase activity NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(1) 27 Colorectal(8;0.0136)|Medulloblastoma(8;0.184) Estrone(DB00655) TAAATGCTGTGCGCTGGCACCC 0.475 Ichthyosis 35 114 --- --- --- --- KLHL34 257240 broad.mit.edu 37 X 21675066 21675066 + Frame_Shift_Del DEL G G - TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chrX:21675066delG ENST00000379499.2 - 1 1382 c.841delC c.(841-843)gcfs p.R281fs NM_153270.1 NP_695002.1 Q8N239 KLH34_HUMAN kelch-like family member 34 281 cervix(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1) 26 AACAAGATGCGGGTCTGGGGG 0.706 13 47 --- --- --- --- RBM10 8241 broad.mit.edu 37 X 47028813 47028813 + Frame_Shift_Del DEL G G - TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chrX:47028813delG ENST00000377604.3 + 3 859 c.117delG c.(115-117)atfs p.M39fs RBM10_ENST00000468791.1_3'UTR|RBM10_ENST00000329236.7_Frame_Shift_Del_p.M39fs|RBM10_ENST00000345781.6_Frame_Shift_Del_p.M39fs NM_001204467.1|NM_001204468.1|NM_005676.4 NP_001191396.1|NP_001191397.1|NP_005667.2 P98175 RBM10_HUMAN RNA binding motif protein 10 39 mRNA processing|RNA splicing chromatin remodeling complex nucleotide binding|RNA binding|zinc ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 48 ACCGGGACATGGACTACCGTT 0.622 14 42 --- --- --- --- COL4A5 1287 broad.mit.edu 37 X 107869484 107869484 + Frame_Shift_Del DEL G G - TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chrX:107869484delG ENST00000328300.6 + 36 3395 c.3151delG c.(3151-3153)gafs p.G1051fs COL4A5_ENST00000361603.2_Frame_Shift_Del_p.G1051fs NM_033380.2 NP_203699.1 P29400 CO4A5_HUMAN collagen, type IV, alpha 5 1051 Triple-helical region. axon guidance collagen type IV extracellular matrix structural constituent|protein binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 99 TGGAGTTCCTGGACAACCTGG 0.453 Alport syndrome with Diffuse Leiomyomatosis 24 72 --- --- --- --- MCF2 4168 broad.mit.edu 37 X 138708373 138708387 + In_Frame_Del DEL CTTCCATAGTTGCAG CTTCCATAGTTGCAG - TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 300ba4fc-8004-48ad-9657-76187e44c303 562191f7-038d-40fe-98e5-fdb02976e644 g.chrX:138708373_138708387delCTTCCATAGTTGCAG ENST00000520602.1 - 9 1117_1131 c.832_846delCTGCAACTATGGAAG c.(832-846)del p.LQLWK278del MCF2_ENST00000536274.1_In_Frame_Del_p.LQLWK179del|MCF2_ENST00000370578.4_In_Frame_Del_p.LQLWK363del|MCF2_ENST00000370573.4_In_Frame_Del_p.LQLWK218del|MCF2_ENST00000338585.6_In_Frame_Del_p.LQLWK218del|MCF2_ENST00000414978.1_In_Frame_Del_p.LQLWK278del|MCF2_ENST00000370576.4_In_Frame_Del_p.LQLWK218del|MCF2_ENST00000519895.1_In_Frame_Del_p.LQLWK278del P10911 MCF2_HUMAN MCF.2 cell line derived transforming sequence 218 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytoskeleton|cytosol|membrane|membrane fraction protein binding|Rho guanyl-nucleotide exchange factor activity NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1) 62 Acute lymphoblastic leukemia(192;0.000127) CCTGCTCAAACTTCCATAGTTGCAGATACTGCTCC 0.344 8 56 --- --- --- ---