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 COL4A3 1285 broad.mit.edu 37 2 228118844 228118844 + Missense_Mutation SNP A A G TCGA-BP-5181-01A-01D-1429-08 TCGA-BP-5181-11A-01D-1429-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ae20006-17ea-4a07-8e85-4cfa213a0951 6d0ac19f-1246-4895-8592-cd25ce28cce6 g.chr2:228118844A>G ENST00000396578.3 + 14 944 c.782A>G c.(781-783)aAg>aGg p.K261R AC097662.2_ENST00000439598.2_RNA|AC097662.2_ENST00000606119.1_RNA|AC097662.2_ENST00000437673.1_RNA|AC097662.2_ENST00000396588.2_RNA NM_000091.4 NP_000082.2 Q01955 CO4A3_HUMAN collagen, type IV, alpha 3 (Goodpasture antigen) 261 Triple-helical region. activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound collagen type IV extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 55 all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247) Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187) AAGGGGGAAAAGGGAGACAAG 0.433000 3 165 0 0 0.115264 0 0 PHF1 5252 broad.mit.edu 37 6 33382565 33382565 + Silent SNP T T C TCGA-BP-5181-01A-01D-1429-08 TCGA-BP-5181-11A-01D-1429-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ae20006-17ea-4a07-8e85-4cfa213a0951 6d0ac19f-1246-4895-8592-cd25ce28cce6 g.chr6:33382565T>C ENST00000374516.3 + 11 1279 c.1008T>C c.(1006-1008)ccT>ccC p.P336P PHF1_ENST00000374512.3_Silent_p.P336P NM_024165.2 NP_077084.1 O43189 PHF1_HUMAN PHD finger protein 1 336 chromatin modification nucleus nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 19 Ovarian(999;0.0443) CTCGGATGCCTCCCCCTGTGG 0.527000 OREG0017346 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 132 0 0 0.115264 0 0 SLC5A10 125206 broad.mit.edu 37 17 18916793 18916793 + Silent SNP C C T TCGA-BP-5181-01A-01D-1429-08 TCGA-BP-5181-11A-01D-1429-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ae20006-17ea-4a07-8e85-4cfa213a0951 6d0ac19f-1246-4895-8592-cd25ce28cce6 g.chr17:18916793C>T ENST00000317977.6 + 9 1423 c.852C>T c.(850-852)atC>atT p.I284I SLC5A10_ENST00000395647.2_Silent_p.I367I|SLC5A10_ENST00000395643.2_Silent_p.I324I|SLC5A10_ENST00000395645.3_Silent_p.I351I|SLC5A10_ENST00000395642.1_Silent_p.I284I|SLC5A10_ENST00000417251.2_Intron A0PJK1 SC5AA_HUMAN solute carrier family 5 (sodium/sugar cotransporter), member 10 351 sodium ion transport|transmembrane transport integral to membrane transporter activity central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(3)|ovary(3)|prostate(3)|skin(3) 24 GCTCCAACATCGCCTACCCCA 0.647000 20 57 0 0 0.575678 0 0 PRKAG1 5571 broad.mit.edu 37 12 49397588 49397588 + Missense_Mutation SNP T T C TCGA-BP-5181-01A-01D-1429-08 TCGA-BP-5181-11A-01D-1429-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ae20006-17ea-4a07-8e85-4cfa213a0951 6d0ac19f-1246-4895-8592-cd25ce28cce6 g.chr12:49397588T>C ENST00000548065.1 - 9 1111 c.655A>G c.(655-657)Att>Gtt p.I219V PRKAG1_ENST00000316299.5_Missense_Mutation_p.I228V|RP11-386G11.5_ENST00000547395.1_RNA|PRKAG1_ENST00000547306.1_Missense_Mutation_p.I168V|RP11-386G11.5_ENST00000547866.1_RNA|PRKAG1_ENST00000395170.3_Missense_Mutation_p.I135V|RP11-386G11.5_ENST00000552933.1_RNA|PRKAG1_ENST00000552212.1_Missense_Mutation_p.I187V|RP11-386G11.5_ENST00000552284.1_RNA P54619 AAKG1_HUMAN protein kinase, AMP-activated, gamma 1 non-catalytic subunit 219 CBS 3. cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|positive regulation of protein kinase activity|regulation of fatty acid oxidation|regulation of glycolysis|spermatogenesis cytosol cAMP-dependent protein kinase activity|cAMP-dependent protein kinase regulator activity|protein kinase binding cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1) 9 TGTACAAAAATCCCCAGAGCC 0.537000 103 195 0 0 0.870114 0 0 SEMA6C 10500 broad.mit.edu 37 1 151105972 151105972 + Missense_Mutation SNP G G C TCGA-BP-5181-01A-01D-1429-08 TCGA-BP-5181-11A-01D-1429-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ae20006-17ea-4a07-8e85-4cfa213a0951 6d0ac19f-1246-4895-8592-cd25ce28cce6 g.chr1:151105972G>C ENST00000341697.3 - 19 3472 c.1781C>G c.(1780-1782)cCa>cGa p.P594R Q9H3T2 SEM6C_HUMAN sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C 594 integral to membrane receptor activity central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 28 Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211) GGCCGAGGCTGGGGGCAGGTC 0.721000 8 2 0 0 0.335167 0 0 ZHX2 22882 broad.mit.edu 37 8 123965269 123965269 + Missense_Mutation SNP G G A TCGA-BP-5181-01A-01D-1429-08 TCGA-BP-5181-11A-01D-1429-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ae20006-17ea-4a07-8e85-4cfa213a0951 6d0ac19f-1246-4895-8592-cd25ce28cce6 g.chr8:123965269G>A ENST00000314393.4 + 3 2354 c.1519G>A c.(1519-1521)Gcc>Acc p.A507T NM_014943.3 NP_055758.1 Q9Y6X8 ZHX2_HUMAN zinc fingers and homeoboxes 2 507 cytoplasm|nucleus|plasma membrane protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1) 45 Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105) STAD - Stomach adenocarcinoma(47;0.00527) CGAATCCCTTGCCAAAGACCA 0.567000 31 59 0 0 0.740014 0 0 SIPA1L3 23094 broad.mit.edu 37 19 38633283 38633283 + Missense_Mutation SNP C C A TCGA-BP-5181-01A-01D-1429-08 TCGA-BP-5181-11A-01D-1429-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ae20006-17ea-4a07-8e85-4cfa213a0951 6d0ac19f-1246-4895-8592-cd25ce28cce6 g.chr19:38633283C>A ENST00000222345.6 + 12 3975 c.3466C>A c.(3466-3468)Cag>Aag p.Q1156K NM_015073.1 NP_055888.1 O60292 SI1L3_HUMAN signal-induced proliferation-associated 1 like 3 1156 regulation of small GTPase mediated signal transduction intracellular GTPase activator activity NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3) 59 Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292) TCCCTACCGACAGCCTTCTGG 0.577000 OREG0025445 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 144 330 5.48206e-51 7.35947e-51 0.870114 1 0 SCN9A 6335 broad.mit.edu 37 2 167085470 167085470 + Missense_Mutation SNP C C T TCGA-BP-5181-01A-01D-1429-08 TCGA-BP-5181-11A-01D-1429-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ae20006-17ea-4a07-8e85-4cfa213a0951 6d0ac19f-1246-4895-8592-cd25ce28cce6 g.chr2:167085470C>T ENST00000375387.4 - 22 4280 c.3940G>A c.(3940-3942)Gca>Aca p.A1314T SCN9A_ENST00000409435.1_Missense_Mutation_p.A1313T|SCN9A_ENST00000303354.6_Missense_Mutation_p.A1314T|AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000409672.1_Missense_Mutation_p.A1302T Q15858 SCN9A_HUMAN sodium channel, voltage-gated, type IX, alpha subunit 1313 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 108 Lamotrigine(DB00555)|Lidocaine(DB00281) CCTATGAGTGCATTCACAACG 0.358000 45 98 0 0 0.864702 0 0 MICAL2 9645 broad.mit.edu 37 11 12248593 12248593 + Missense_Mutation SNP G G T TCGA-BP-5181-01A-01D-1429-08 TCGA-BP-5181-11A-01D-1429-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ae20006-17ea-4a07-8e85-4cfa213a0951 6d0ac19f-1246-4895-8592-cd25ce28cce6 g.chr11:12248593G>T ENST00000256194.4 + 15 2198 c.1910G>T c.(1909-1911)gGa>gTa p.G637V MICAL2_ENST00000537344.1_Missense_Mutation_p.G637V|MICAL2_ENST00000379612.3_Missense_Mutation_p.G637V|MICAL2_ENST00000342902.5_Missense_Mutation_p.G637V|MICAL2_ENST00000527546.1_Missense_Mutation_p.G637V NM_014632.2 NP_055447.1 O94851 MICA2_HUMAN microtubule associated monooxygenase, calponin and LIM domain containing 2 637 cytoplasm|cytoskeleton monooxygenase activity|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 47 Epithelial(150;0.00552) AAAAACTATGGAGAAAATGCT 0.458000 27 78 1.5548e-18 1.88112e-18 0.693898 1 0 REV3L 5980 broad.mit.edu 37 6 111697637 111697637 + Missense_Mutation SNP G G T TCGA-BP-5181-01A-01D-1429-08 TCGA-BP-5181-11A-01D-1429-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ae20006-17ea-4a07-8e85-4cfa213a0951 6d0ac19f-1246-4895-8592-cd25ce28cce6 g.chr6:111697637G>T ENST00000435970.1 - 15 2503 c.1687C>A c.(1687-1689)Cat>Aat p.H563N REV3L_ENST00000358835.3_Missense_Mutation_p.H641N|REV3L_ENST00000368802.3_Missense_Mutation_p.H641N|REV3L_ENST00000368805.1_Missense_Mutation_p.H641N O60673 DPOLZ_HUMAN REV3-like, polymerase (DNA directed), zeta, catalytic subunit 641 DNA-dependent DNA replication|translesion synthesis nucleus|zeta DNA polymerase complex DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1) 88 all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021) OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663) TTCTCTTTATGAGAATTTTCT 0.333000 DNA polymerases (catalytic subunits) 4 152 0.150653 0.157064 0.150653 1 0 ANKRD20A2 441430 broad.mit.edu 37 9 42368569 42368569 + Missense_Mutation SNP G G T TCGA-BP-5181-01A-01D-1429-08 TCGA-BP-5181-11A-01D-1429-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ae20006-17ea-4a07-8e85-4cfa213a0951 6d0ac19f-1246-4895-8592-cd25ce28cce6 g.chr9:42368569G>T ENST00000377601.2 + 1 267 c.155G>T c.(154-156)tGc>tTc p.C52F NM_001012421.1 NP_001012421.1 Q5SQ80 A20A2_HUMAN ankyrin repeat domain 20 family, member A2 52 large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1) 4 GTGGAGCGCTGCTTGGCGCGC 0.697000 23 161 2.46105e-21 3.01479e-21 0.750413 1 0 DDX21 9188 broad.mit.edu 37 10 70742529 70742529 + Missense_Mutation SNP A A T TCGA-BP-5181-01A-01D-1429-08 TCGA-BP-5181-11A-01D-1429-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ae20006-17ea-4a07-8e85-4cfa213a0951 6d0ac19f-1246-4895-8592-cd25ce28cce6 g.chr10:70742529A>T ENST00000354185.4 + 15 2411 c.2313A>T c.(2311-2313)aaA>aaT p.K771N NM_001256910.1|NM_004728.3 NP_001243839.1|NP_004719.2 Q9NR30 DDX21_HUMAN DEAD (Asp-Glu-Ala-Asp) box helicase 21 771 nucleolus ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1) 20 CCCAAAACAAAGGCCAGAAGC 0.428000 47 105 0 0 0.870114 0 0 PRDM15 63977 broad.mit.edu 37 21 43281766 43281766 + Missense_Mutation SNP A A G TCGA-BP-5181-01A-01D-1429-08 TCGA-BP-5181-11A-01D-1429-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ae20006-17ea-4a07-8e85-4cfa213a0951 6d0ac19f-1246-4895-8592-cd25ce28cce6 g.chr21:43281766A>G ENST00000269844.3 - 7 907 c.797T>C c.(796-798)gTg>gCg p.V266A PRDM15_ENST00000398548.1_Intron|PRDM15_ENST00000538201.1_Intron|PRDM15_ENST00000422911.1_Intron NM_022115.3 NP_071398.3 P57071 PRD15_HUMAN PR domain containing 15 266 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1) 43 CTGATTCCACACGCCCTCCAC 0.532000 51 89 0 0 0.870114 0 0 CEACAM1 634 broad.mit.edu 37 19 43031337 43031337 + Missense_Mutation SNP C C T TCGA-BP-5181-01A-01D-1429-08 TCGA-BP-5181-11A-01D-1429-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ae20006-17ea-4a07-8e85-4cfa213a0951 6d0ac19f-1246-4895-8592-cd25ce28cce6 g.chr19:43031337C>T ENST00000161559.6 - 2 414 c.280G>A c.(280-282)Gca>Aca p.A94T CEACAM1_ENST00000308072.4_Missense_Mutation_p.A54T|CEACAM1_ENST00000403461.1_Missense_Mutation_p.A94T|LIPE-AS1_ENST00000594688.1_RNA|LIPE-AS1_ENST00000594624.2_RNA|CEACAM1_ENST00000358394.3_Missense_Mutation_p.A94T|CEACAM1_ENST00000352591.5_Missense_Mutation_p.A94T|CEACAM1_ENST00000351134.3_Missense_Mutation_p.A94T|CEACAM1_ENST00000599389.1_Missense_Mutation_p.A94T|CEACAM1_ENST00000403444.3_Missense_Mutation_p.A94T NM_001712.4 NP_001703.2 P13688 CEAM1_HUMAN carcinoembryonic antigen-related cell adhesion molecule 1 (biliary glycoprotein) 94 Ig-like V-type. angiogenesis|cell migration|homophilic cell adhesion|integrin-mediated signaling pathway extracellular region|integral to plasma membrane|membrane fraction breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1) 17 Prostate(69;0.00682) GBM - Glioblastoma multiforme(486;0.00148) Arcitumomab(DB00113) CCGCTGTTTGCGGGCCCTGGG 0.488000 5 380 0 0 0.217242 0 0 CNTN5 53942 broad.mit.edu 37 11 100169931 100169931 + Missense_Mutation SNP G G A TCGA-BP-5181-01A-01D-1429-08 TCGA-BP-5181-11A-01D-1429-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ae20006-17ea-4a07-8e85-4cfa213a0951 6d0ac19f-1246-4895-8592-cd25ce28cce6 g.chr11:100169931G>A ENST00000524871.1 + 20 2713 c.2423G>A c.(2422-2424)gGc>gAc p.G808D CNTN5_ENST00000279463.3_Missense_Mutation_p.G808D|CNTN5_ENST00000524560.1_3'UTR|CNTN5_ENST00000528682.1_Missense_Mutation_p.G808D|CNTN5_ENST00000418526.2_Missense_Mutation_p.G734D|CNTN5_ENST00000527185.1_Missense_Mutation_p.G808D NM_014361.3 NP_055176.1 O94779 CNTN5_HUMAN contactin 5 808 Fibronectin type-III 2. cell adhesion anchored to membrane|plasma membrane protein binding NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 81 all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219) BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196) GAAGGCTTCGGCTATATTGTG 0.373000 16 42 0 0 0.539581 0 0 C16orf78 123970 broad.mit.edu 37 16 49407969 49407969 + Missense_Mutation SNP G G A TCGA-BP-5181-01A-01D-1429-08 TCGA-BP-5181-11A-01D-1429-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ae20006-17ea-4a07-8e85-4cfa213a0951 6d0ac19f-1246-4895-8592-cd25ce28cce6 g.chr16:49407969G>A ENST00000299191.3 + 1 236 c.119G>A c.(118-120)cGg>cAg p.R40Q NM_144602.2 NP_653203.1 Q8WTQ4 CP078_HUMAN chromosome 16 open reading frame 78 40 breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(1) 22 TGGCTGGAGCGGAGGCAGGGG 0.512000 53 105 0 0 0.870114 0 0 ARL6IP6 151188 broad.mit.edu 37 2 153591609 153591609 + Missense_Mutation SNP C C T TCGA-BP-5181-01A-01D-1429-08 TCGA-BP-5181-11A-01D-1429-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ae20006-17ea-4a07-8e85-4cfa213a0951 6d0ac19f-1246-4895-8592-cd25ce28cce6 g.chr2:153591609C>T ENST00000326446.5 + 3 1267 c.556C>T c.(556-558)Cct>Tct p.P186S ARL6IP6_ENST00000463690.1_3'UTR NM_152522.5 NP_689735.1 Q8N6S5 AR6P6_HUMAN ADP-ribosylation-like factor 6 interacting protein 6 186 integral to membrane kidney(1)|large_intestine(1)|lung(2)|pancreas(1) 5 AGGAATGTTTCCTCCTACTCC 0.368000 95 173 0 0 0.870114 0 0 PTPRR 5801 broad.mit.edu 37 12 71139699 71139699 + Silent SNP G G T TCGA-BP-5181-01A-01D-1429-08 TCGA-BP-5181-11A-01D-1429-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ae20006-17ea-4a07-8e85-4cfa213a0951 6d0ac19f-1246-4895-8592-cd25ce28cce6 g.chr12:71139699G>T ENST00000283228.2 - 6 1358 c.906C>A c.(904-906)gtC>gtA p.V302V PTPRR_ENST00000549308.1_Silent_p.V57V|PTPRR_ENST00000440835.2_Silent_p.V57V|PTPRR_ENST00000378778.1_Silent_p.V96V|PTPRR_ENST00000342084.4_Silent_p.V190V NM_002849.3 NP_002840.2 Q15256 PTPRR_HUMAN protein tyrosine phosphatase, receptor type, R 302 in utero embryonic development cell surface|Golgi apparatus|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 41 GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132) COAD - Colon adenocarcinoma(1;0.136) GAGGGTCCACGACAACATTCA 0.532000 46 93 5.20006e-24 6.53341e-24 0.859065 1 0 LOC101927060 101927060 broad.mit.edu 37 17 45128735 45128735 + RNA SNP T T C rs138973461 by1000genomes TCGA-BP-5181-01A-01D-1429-08 TCGA-BP-5181-11A-01D-1429-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ae20006-17ea-4a07-8e85-4cfa213a0951 6d0ac19f-1246-4895-8592-cd25ce28cce6 g.chr17:45128735T>C ENST00000575173.1 - 0 418 GAAATACTAATGATTTTTATT 0.323000 5 196 0 0 0.184627 0 0 PBLD 64081 broad.mit.edu 37 10 70045112 70045112 + Missense_Mutation SNP T T G TCGA-BP-5181-01A-01D-1429-08 TCGA-BP-5181-11A-01D-1429-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ae20006-17ea-4a07-8e85-4cfa213a0951 6d0ac19f-1246-4895-8592-cd25ce28cce6 g.chr10:70045112T>G ENST00000358769.2 - 9 949 c.747A>C c.(745-747)gaA>gaC p.E249D PBLD_ENST00000309049.4_Missense_Mutation_p.E249D|PBLD_ENST00000495025.1_5'UTR|PBLD_ENST00000336578.1_Missense_Mutation_p.E216D|PBLD_ENST00000432941.1_Missense_Mutation_p.E249D NM_022129.3 NP_071412.2 P30039 PBLD_HUMAN phenazine biosynthesis-like protein domain containing 249 biosynthetic process isomerase activity endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 21 TACCATGCATTTCTTTCTTCC 0.413000 54 123 0 0 0.870114 0 0 KIAA1456 57604 broad.mit.edu 37 8 12879153 12879153 + Missense_Mutation SNP A A G TCGA-BP-5181-01A-01D-1429-08 TCGA-BP-5181-11A-01D-1429-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ae20006-17ea-4a07-8e85-4cfa213a0951 6d0ac19f-1246-4895-8592-cd25ce28cce6 g.chr8:12879153A>G ENST00000524591.2 + 5 1454 c.965A>G c.(964-966)gAg>gGg p.E322G KIAA1456_ENST00000447063.2_Intron NM_001099677.1|NM_020844.2 NP_001093147.1|NP_065895.2 Q9P272 K1456_HUMAN KIAA1456 322 methyltransferase activity endometrium(1)|kidney(1)|large_intestine(1)|lung(4) 7 AAACACTTGGAGTGGCTGAGA 0.418000 41 65 0 0 0.870114 0 0 CCDC102A 92922 broad.mit.edu 37 16 57559847 57559847 + Missense_Mutation SNP C C G TCGA-BP-5181-01A-01D-1429-08 TCGA-BP-5181-11A-01D-1429-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ae20006-17ea-4a07-8e85-4cfa213a0951 6d0ac19f-1246-4895-8592-cd25ce28cce6 g.chr16:57559847C>G ENST00000258214.2 - 3 1024 c.778G>C c.(778-780)Gat>Cat p.D260H NM_033212.3 NP_149989.2 Q96A19 C102A_HUMAN coiled-coil domain containing 102A 260 endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1) 8 TGGGACTCATCCAGCCGTAGC 0.687000 7 24 0 0 0.411799 0 0 TCF20 6942 broad.mit.edu 37 22 42605832 42605832 + Missense_Mutation SNP G G T TCGA-BP-5181-01A-01D-1429-08 TCGA-BP-5181-11A-01D-1429-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ae20006-17ea-4a07-8e85-4cfa213a0951 6d0ac19f-1246-4895-8592-cd25ce28cce6 g.chr22:42605832G>T ENST00000359486.3 - 1 5616 c.5480C>A c.(5479-5481)tCc>tAc p.S1827Y TCF20_ENST00000335626.4_Missense_Mutation_p.S1827Y|TCF20_ENST00000404876.1_Missense_Mutation_p.S128Y NM_005650.1 NP_005641.1 Q9UGU0 TCF20_HUMAN transcription factor 20 (AR1) 1827 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 GGTGGGCACGGAGGGCTTCGA 0.542000 106 200 1.56001e-33 2.03841e-33 0.870114 1 0 NAGPA 51172 broad.mit.edu 37 16 5081819 5081819 + Silent SNP C C A rs138461608 TCGA-BP-5181-01A-01D-1429-08 TCGA-BP-5181-11A-01D-1429-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ae20006-17ea-4a07-8e85-4cfa213a0951 6d0ac19f-1246-4895-8592-cd25ce28cce6 g.chr16:5081819C>A ENST00000312251.3 - 3 628 c.609G>T c.(607-609)gtG>gtT p.V203V RP11-165E7.1_ENST00000588778.1_RNA|NAGPA_ENST00000381955.3_Silent_p.V203V NM_016256.3 NP_057340.2 Q9UK23 NAGPA_HUMAN N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase 203 carbohydrate metabolic process|lysosome organization|protein modification process|protein targeting to lysosome Golgi cisterna membrane|integral to membrane N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase activity endometrium(4)|large_intestine(4)|lung(3)|urinary_tract(1) 12 N-Acetyl-D-glucosamine(DB00141) GAATCAGCCACACGACCCCAC 0.557000 97 174 1.39521e-32 1.79908e-32 0.870114 1 0 PBRM1 55193 broad.mit.edu 37 3 52712614 52712614 + Splice_Site SNP C C A TCGA-BP-5181-01A-01D-1429-08 TCGA-BP-5181-11A-01D-1429-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ae20006-17ea-4a07-8e85-4cfa213a0951 6d0ac19f-1246-4895-8592-cd25ce28cce6 g.chr3:52712614C>A ENST00000356770.4 - 2 141 c.e2-1 PBRM1_ENST00000409114.3_Splice_Site|PBRM1_ENST00000409057.1_Splice_Site|PBRM1_ENST00000410007.1_Splice_Site|PBRM1_ENST00000296302.7_Splice_Site|PBRM1_ENST00000409767.1_Splice_Site|PBRM1_ENST00000337303.4_Splice_Site|PBRM1_ENST00000394830.3_Splice_Site Q86U86 PB1_HUMAN polybromo 1 chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear chromosome chromatin binding|DNA binding|protein binding breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1) 335 BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613) ACACGGCAATCTACACATTAG 0.393000 """Mis, N, F, S, D, O""" """clear cell renal carcinoma, breast""" 42 34 3.38236e-24 4.30482e-24 0.827153 1 0 RAB8A 4218 broad.mit.edu 37 19 16240404 16240404 + Missense_Mutation SNP A A T TCGA-BP-5181-01A-01D-1429-08 TCGA-BP-5181-11A-01D-1429-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ae20006-17ea-4a07-8e85-4cfa213a0951 6d0ac19f-1246-4895-8592-cd25ce28cce6 g.chr19:16240404A>T ENST00000300935.3 + 7 794 c.521A>T c.(520-522)gAc>gTc p.D174V CTD-2231E14.8_ENST00000597983.1_RNA|RAB8A_ENST00000586682.1_Silent_p.G167G NM_005370.4 NP_005361.2 P61006 RAB8A_HUMAN RAB8A, member RAS oncogene family 174 cilium assembly|Golgi vesicle fusion to target membrane|protein transport|small GTPase mediated signal transduction|vesicle docking involved in exocytosis Golgi apparatus|nonmotile primary cilium|perinuclear region of cytoplasm|plasma membrane GTP binding|protein binding endometrium(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1) 8 GCAAAAATGGACAAAAAATTG 0.517000 76 180 0 0 0.870114 0 0 CADPS 8618 broad.mit.edu 37 3 62498425 62498425 + Splice_Site SNP C C A TCGA-BP-5181-01A-01D-1429-08 TCGA-BP-5181-11A-01D-1429-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ae20006-17ea-4a07-8e85-4cfa213a0951 6d0ac19f-1246-4895-8592-cd25ce28cce6 g.chr3:62498425C>A ENST00000383710.4 - 17 2949 c.e17+1 CADPS_ENST00000357948.3_Intron|CADPS_ENST00000283269.9_Intron NM_003716.3 NP_003707.2 Q9ULU8 CAPS1_HUMAN Ca++-dependent secretion activator exocytosis|protein transport cell junction|cytoplasmic vesicle membrane|cytosol|synapse lipid binding|metal ion binding breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2) 92 Lung SC(41;0.0452) BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334) AATTGGTTCACCTGCATCCTT 0.358000 8 16 2.17888e-05 2.39921e-05 0.335167 1 0 NTNG1 22854 broad.mit.edu 37 1 107691260 107691260 + Silent SNP G G A TCGA-BP-5181-01A-01D-1429-08 TCGA-BP-5181-11A-01D-1429-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ae20006-17ea-4a07-8e85-4cfa213a0951 6d0ac19f-1246-4895-8592-cd25ce28cce6 g.chr1:107691260G>A ENST00000370067.1 + 2 672 c.45G>A c.(43-45)acG>acA p.T15T NTNG1_ENST00000370061.3_Silent_p.T15T|NTNG1_ENST00000370066.1_Silent_p.T15T|NTNG1_ENST00000370068.1_Silent_p.T15T|NTNG1_ENST00000370070.2_Silent_p.T15T|NTNG1_ENST00000370071.2_Silent_p.T15T|NTNG1_ENST00000370073.2_Silent_p.T15T|NTNG1_ENST00000370074.4_Silent_p.T15T|NTNG1_ENST00000370065.1_Silent_p.T15T|NTNG1_ENST00000542803.1_Silent_p.T15T|NTNG1_ENST00000370072.3_Silent_p.T15T Q9Y2I2 NTNG1_HUMAN netrin G1 15 axonogenesis anchored to plasma membrane protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1) 37 all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243) Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245) TTTGGGTTACGGTGTCCTCAG 0.413000 6 281 0 0 0.248553 0 0 LMBR1L 55716 broad.mit.edu 37 12 49495053 49495053 + Silent SNP G G T TCGA-BP-5181-01A-01D-1429-08 TCGA-BP-5181-11A-01D-1429-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ae20006-17ea-4a07-8e85-4cfa213a0951 6d0ac19f-1246-4895-8592-cd25ce28cce6 g.chr12:49495053G>T ENST00000267102.8 - 13 1404 c.1062C>A c.(1060-1062)gtC>gtA p.V354V LMBR1L_ENST00000395141.4_Silent_p.V349V|LMBR1L_ENST00000547382.1_Intron NM_018113.2 NP_060583.2 Q6UX01 LMBRL_HUMAN limb development membrane protein 1-like 354 endocytosis integral to membrane|plasma membrane receptor activity endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 CAACCTGAATGACGGCACCAA 0.532000 24 68 9.86323e-18 1.17878e-17 0.667858 1 0 CEP192 55125 broad.mit.edu 37 18 13056677 13056677 + Nonsense_Mutation SNP C C A TCGA-BP-5181-01A-01D-1429-08 TCGA-BP-5181-11A-01D-1429-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ae20006-17ea-4a07-8e85-4cfa213a0951 6d0ac19f-1246-4895-8592-cd25ce28cce6 g.chr18:13056677C>A ENST00000506447.1 + 19 4168 c.4088C>A c.(4087-4089)tCa>tAa p.S1363* CEP192_ENST00000325971.8_Nonsense_Mutation_p.S767*|CEP192_ENST00000430049.2_Nonsense_Mutation_p.S888* NM_032142.3 NP_115518.3 B7ZMF0 B7ZMF0_HUMAN centrosomal protein 192kDa 958 NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 CCATGGGATTCAGGAGTGACA 0.373000 4 172 0.150653 0.157064 0.150653 1 0 COX11 1353 broad.mit.edu 37 17 53042201 53042201 + Nonsense_Mutation SNP C C A TCGA-BP-5181-01A-01D-1429-08 TCGA-BP-5181-11A-01D-1429-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ae20006-17ea-4a07-8e85-4cfa213a0951 6d0ac19f-1246-4895-8592-cd25ce28cce6 g.chr17:53042201C>A ENST00000299335.3 - 2 517 c.379G>T c.(379-381)Gga>Tga p.G127* COX11_ENST00000571584.1_Nonsense_Mutation_p.G127* NM_004375.3 NP_004366.1 Q9Y6N1 COX11_HUMAN cytochrome c oxidase assembly homolog 11 (yeast) 127 respiratory chain complex IV assembly|respiratory gaseous exchange integral to membrane|mitochondrial inner membrane copper ion binding|cytochrome-c oxidase activity|electron carrier activity endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(2)|ovary(1)|prostate(1) 9 GCTGATCCTCCAAGTCCAGTA 0.328000 4 149 0.00909568 0.00968888 0.150653 1 0 COL5A2 1290 broad.mit.edu 37 2 189964840 189964840 + Missense_Mutation SNP A A T TCGA-BP-5181-01A-01D-1429-08 TCGA-BP-5181-11A-01D-1429-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ae20006-17ea-4a07-8e85-4cfa213a0951 6d0ac19f-1246-4895-8592-cd25ce28cce6 g.chr2:189964840A>T ENST00000374866.3 - 4 636 c.362T>A c.(361-363)gTg>gAg p.V121E NM_000393.3 NP_000384.2 P05997 CO5A2_HUMAN collagen, type V, alpha 2 121 axon guidance|collagen fibril organization|eye morphogenesis|skin development collagen type V extracellular matrix structural constituent NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3) 95 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127) TACAACAGGCACTAATCCTGG 0.308000 4 150 0 0 0.184627 0 0 ACADS 35 broad.mit.edu 37 12 121175723 121175723 + Missense_Mutation SNP A A G TCGA-BP-5181-01A-01D-1429-08 TCGA-BP-5181-11A-01D-1429-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ae20006-17ea-4a07-8e85-4cfa213a0951 6d0ac19f-1246-4895-8592-cd25ce28cce6 g.chr12:121175723A>G ENST00000242592.4 + 5 707 c.556A>G c.(556-558)Atc>Gtc p.I186V ACADS_ENST00000411593.2_Intron NM_000017.2 NP_000008.1 P16219 ACADS_HUMAN acyl-CoA dehydrogenase, C-2 to C-3 short chain 186 mitochondrial matrix butyryl-CoA dehydrogenase activity central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(3) 14 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) Lung NSC(355;0.163) NADH(DB00157) CAAAGCCTGGATCACCAATGC 0.637000 23 93 0 0 0.667858 0 0 LOC101927060 101927060 broad.mit.edu 37 17 45128812 45128812 + RNA SNP C C T TCGA-BP-5181-01A-01D-1429-08 TCGA-BP-5181-11A-01D-1429-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ae20006-17ea-4a07-8e85-4cfa213a0951 6d0ac19f-1246-4895-8592-cd25ce28cce6 g.chr17:45128812C>T ENST00000575173.1 - 0 418 AGTCCTGTTTCTGTGTGGATT 0.373000 4 59 0 0 0.150653 0 0 PICALM 8301 broad.mit.edu 37 11 85733457 85733457 + Silent SNP T T C TCGA-BP-5181-01A-01D-1429-08 TCGA-BP-5181-11A-01D-1429-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ae20006-17ea-4a07-8e85-4cfa213a0951 6d0ac19f-1246-4895-8592-cd25ce28cce6 g.chr11:85733457T>C ENST00000526033.1 - 4 721 c.405A>G c.(403-405)gcA>gcG p.A135A PICALM_ENST00000393346.3_Silent_p.A135A|PICALM_ENST00000356360.5_Silent_p.A135A|PICALM_ENST00000528411.1_5'UTR|PICALM_ENST00000532317.1_Silent_p.A135A|PICALM_ENST00000528398.1_Silent_p.A84A NM_001206946.1|NM_007166.3 NP_001193875.1|NP_009097.2 Q13492 PICAL_HUMAN phosphatidylinositol binding clathrin assembly protein 135 ENTH. clathrin coat assembly|endosome transport|negative regulation of receptor-mediated endocytosis|positive regulation of transcription, DNA-dependent|receptor internalization|regulation of protein localization clathrin coat|clathrin-coated vesicle|coated pit|Golgi apparatus|nucleus|postsynaptic membrane|presynaptic membrane 1-phosphatidylinositol binding|clathrin heavy chain binding endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(10)|ovary(1)|skin(1)|urinary_tract(1) 19 Acute lymphoblastic leukemia(157;7.42e-07)|all_hematologic(158;0.00092) TGTATGAAACTGCTTTCTCAT 0.284000 T """MLLT10, MLL""" """TALL, AML, """ 76 149 0 0 0.870114 0 0 ZMYND8 23613 broad.mit.edu 37 20 45905190 45905190 + Missense_Mutation SNP G G A TCGA-BP-5181-01A-01D-1429-08 TCGA-BP-5181-11A-01D-1429-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ae20006-17ea-4a07-8e85-4cfa213a0951 6d0ac19f-1246-4895-8592-cd25ce28cce6 g.chr20:45905190G>A ENST00000311275.7 - 11 1541 c.1288C>T c.(1288-1290)Ccg>Tcg p.P430S ZMYND8_ENST00000536340.1_Missense_Mutation_p.P457S|ZMYND8_ENST00000446994.2_Missense_Mutation_p.P367S|ZMYND8_ENST00000262975.4_Missense_Mutation_p.P430S|ZMYND8_ENST00000372023.3_Missense_Mutation_p.P425S|ZMYND8_ENST00000355972.4_Missense_Mutation_p.P430S|ZMYND8_ENST00000352431.2_Missense_Mutation_p.P450S|ZMYND8_ENST00000461685.1_Missense_Mutation_p.P450S|ZMYND8_ENST00000396281.4_Missense_Mutation_p.P430S|ZMYND8_ENST00000468376.2_5'UTR|ZMYND8_ENST00000471951.2_Missense_Mutation_p.P450S|ZMYND8_ENST00000458360.2_Missense_Mutation_p.P425S|ZMYND8_ENST00000360911.3_Missense_Mutation_p.P425S|ZMYND8_ENST00000540497.1_Missense_Mutation_p.P425S Q9ULU4 PKCB1_HUMAN zinc finger, MYND-type containing 8 430 protein binding|zinc ion binding NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8) 62 Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154) GGGGAGCGCGGCATATCCGAC 0.597000 4 140 0 0 0.150653 0 0 MLLT1 4298 broad.mit.edu 37 19 6216490 6216490 + Silent SNP G G C TCGA-BP-5181-01A-01D-1429-08 TCGA-BP-5181-11A-01D-1429-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ae20006-17ea-4a07-8e85-4cfa213a0951 6d0ac19f-1246-4895-8592-cd25ce28cce6 g.chr19:6216490G>C ENST00000252674.7 - 8 1396 c.1233C>G c.(1231-1233)tcC>tcG p.S411S MLLT1_ENST00000585588.1_5'UTR NM_005934.3 NP_005925.2 Q03111 ENL_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1 411 regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter cytoplasm|nucleolus DNA binding|protein binding endometrium(3)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|skin(2) 17 CGGACTCCTCGGACTGCAGGT 0.716000 T MLL AL 3 13 0 0 0.184627 0 0 KL 9365 broad.mit.edu 37 13 33635705 33635705 + Missense_Mutation SNP T T A TCGA-BP-5181-01A-01D-1429-08 TCGA-BP-5181-11A-01D-1429-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ae20006-17ea-4a07-8e85-4cfa213a0951 6d0ac19f-1246-4895-8592-cd25ce28cce6 g.chr13:33635705T>A ENST00000380099.3 + 4 2497 c.2489T>A c.(2488-2490)gTg>gAg p.V830E KL_ENST00000487852.1_3'UTR NM_004795.3 NP_004786.2 Q9UEF7 KLOT_HUMAN klotho 830 Glycosyl hydrolase-1 2. aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5) 41 all_epithelial(80;0.133) Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262) GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05) TACCTAGAAGTGCAAGAAATG 0.463000 41 89 0 0 0.834066 0 0 DHRS7B 25979 broad.mit.edu 37 17 21087063 21087063 + Missense_Mutation SNP G G T TCGA-BP-5181-01A-01D-1429-08 TCGA-BP-5181-11A-01D-1429-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ae20006-17ea-4a07-8e85-4cfa213a0951 6d0ac19f-1246-4895-8592-cd25ce28cce6 g.chr17:21087063G>T ENST00000395511.3 + 4 786 c.466G>T c.(466-468)Gtg>Ttg p.V156L DHRS7B_ENST00000579303.1_Missense_Mutation_p.V141L NM_015510.4 NP_056325.2 Q6IAN0 DRS7B_HUMAN dehydrogenase/reductase (SDR family) member 7B 156 integral to membrane|peroxisomal membrane binding|oxidoreductase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|pancreas(2) 7 GGACACCACAGTGGATGTGGA 0.473000 24 49 2.39556e-15 2.8285e-15 0.639603 1 0 BPIFB4 149954 broad.mit.edu 37 20 31671202 31671202 + Missense_Mutation SNP C C T TCGA-BP-5181-01A-01D-1429-08 TCGA-BP-5181-11A-01D-1429-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ae20006-17ea-4a07-8e85-4cfa213a0951 6d0ac19f-1246-4895-8592-cd25ce28cce6 g.chr20:31671202C>T ENST00000375483.3 + 3 199 c.199C>T c.(199-201)Cat>Tat p.H67Y NM_182519.2 NP_872325.2 P59827 LPLC4_HUMAN BPI fold containing family B, member 4 67 cytoplasm|extracellular region lipid binding CAATGACTTCCATGTCCGAGG 0.498000 5 213 0 0 0.248553 0 0 GSAP 54103 broad.mit.edu 37 7 76950057 76950057 + Missense_Mutation SNP A A C TCGA-BP-5181-01A-01D-1429-08 TCGA-BP-5181-11A-01D-1429-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ae20006-17ea-4a07-8e85-4cfa213a0951 6d0ac19f-1246-4895-8592-cd25ce28cce6 g.chr7:76950057A>C ENST00000257626.7 - 26 2152 c.2074T>G c.(2074-2076)Tta>Gta p.L692V GSAP_ENST00000441833.2_Missense_Mutation_p.L13V|GSAP_ENST00000440473.1_5'UTR NM_017439.3 NP_059135.2 gamma-secretase activating protein GGCAGAGGTAAAAACAAACTG 0.388000 30 55 0 0 0.740014 0 0 TPTE 7179 broad.mit.edu 37 21 11014937 11014937 + Splice_Site SNP C C T rs76467559 by1000genomes TCGA-BP-5181-01A-01D-1429-08 TCGA-BP-5181-11A-01D-1429-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ae20006-17ea-4a07-8e85-4cfa213a0951 6d0ac19f-1246-4895-8592-cd25ce28cce6 g.chr21:11014937C>T ENST00000415664.2 - 6 808 c.e6+1 P56180 TPTE_HUMAN transmembrane phosphatase with tensin homology signal transduction integral to membrane ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1) 130 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) CAGCACAATACCTATCACATT 0.328000 3 47 0 0 0.115264 0 0 G3BP1 10146 broad.mit.edu 37 5 151166239 151166239 + Missense_Mutation SNP T T C TCGA-BP-5181-01A-01D-1429-08 TCGA-BP-5181-11A-01D-1429-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ae20006-17ea-4a07-8e85-4cfa213a0951 6d0ac19f-1246-4895-8592-cd25ce28cce6 g.chr5:151166239T>C ENST00000394123.3 + 2 203 c.58T>C c.(58-60)Tac>Cac p.Y20H G3BP1_ENST00000356245.3_Missense_Mutation_p.Y20H|G3BP1_ENST00000543466.1_5'UTR Q13283 G3BP1_HUMAN GTPase activating protein (SH3 domain) binding protein 1 20 NTF2. Ras protein signal transduction|transport cytosol|nucleus|plasma membrane ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|endonuclease activity|protein binding|RNA binding breast(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|skin(3)|urinary_tract(2) 29 all_hematologic(541;0.0338)|Medulloblastoma(196;0.091) Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785) GAGACAGTATTACACACTGCT 0.458000 59 130 0 0 0.870114 0 0 DIP2B 57609 broad.mit.edu 37 12 51077010 51077010 + Missense_Mutation SNP A A G TCGA-BP-5181-01A-01D-1429-08 TCGA-BP-5181-11A-01D-1429-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ae20006-17ea-4a07-8e85-4cfa213a0951 6d0ac19f-1246-4895-8592-cd25ce28cce6 g.chr12:51077010A>G ENST00000301180.5 + 10 1330 c.1296A>G c.(1294-1296)atA>atG p.I432M NM_173602.2 NP_775873.2 Q9P265 DIP2B_HUMAN DIP2 disco-interacting protein 2 homolog B (Drosophila) 432 nucleus catalytic activity|transcription factor binding breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2) 60 CAGTGCCTATAGAGGTACCTC 0.433000 98 176 0 0 0.870114 0 0 UNC79 57578 broad.mit.edu 37 14 94044309 94044309 + Missense_Mutation SNP A A C TCGA-BP-5181-01A-01D-1429-08 TCGA-BP-5181-11A-01D-1429-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ae20006-17ea-4a07-8e85-4cfa213a0951 6d0ac19f-1246-4895-8592-cd25ce28cce6 g.chr14:94044309A>C ENST00000553484.1 + 18 2487 c.2333A>C c.(2332-2334)aAt>aCt p.N778T UNC79_ENST00000256339.4_Missense_Mutation_p.N601T|UNC79_ENST00000555664.1_Missense_Mutation_p.N778T|UNC79_ENST00000393151.2_Missense_Mutation_p.N778T Q9P2D8 UNC79_HUMAN unc-79 homolog (C. elegans) 778 integral to membrane breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4) 118 CCTTTCAAGAATTTTGGACAC 0.433000 113 247 0 0 0.870114 0 0 FBXO39 162517 broad.mit.edu 37 17 6690673 6690673 + Missense_Mutation SNP G G A TCGA-BP-5181-01A-01D-1429-08 TCGA-BP-5181-11A-01D-1429-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ae20006-17ea-4a07-8e85-4cfa213a0951 6d0ac19f-1246-4895-8592-cd25ce28cce6 g.chr17:6690673G>A ENST00000321535.4 + 4 1385 c.1255G>A c.(1255-1257)Gaa>Aaa p.E419K NM_153230.2 NP_694962.1 Q8N4B4 FBX39_HUMAN F-box protein 39 419 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 GACCCTGCAGGAAATTTACAG 0.418000 45 97 0 0 0.864702 0 0 DNMT3A 1788 broad.mit.edu 37 2 25470606 25470606 + Missense_Mutation SNP A A T TCGA-BP-5181-01A-01D-1429-08 TCGA-BP-5181-11A-01D-1429-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ae20006-17ea-4a07-8e85-4cfa213a0951 6d0ac19f-1246-4895-8592-cd25ce28cce6 g.chr2:25470606A>T ENST00000264709.3 - 8 1205 c.868T>A c.(868-870)Ttt>Att p.F290I DNMT3A_ENST00000380746.4_Missense_Mutation_p.F101I|DNMT3A_ENST00000321117.5_Missense_Mutation_p.F290I|DNMT3A_ENST00000402667.1_Missense_Mutation_p.F67I NM_175629.2 NP_783328.1 Q9Y6K1 DNM3A_HUMAN DNA (cytosine-5-)-methyltransferase 3 alpha 290 Interaction with DNMT1 and DNMT3B. regulation of gene expression by genetic imprinting cytoplasm|euchromatin|nuclear matrix DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2) 1021 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CCAATGCCAAAGCCCCGGCCG 0.652000 """Mis, F, N, S""" AML 42 50 0 0 0.827153 0 0 AAMDC 28971 broad.mit.edu 37 11 77553573 77553573 + Missense_Mutation SNP T T C TCGA-BP-5181-01A-01D-1429-08 TCGA-BP-5181-11A-01D-1429-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ae20006-17ea-4a07-8e85-4cfa213a0951 6d0ac19f-1246-4895-8592-cd25ce28cce6 g.chr11:77553573T>C ENST00000527134.1 + 3 179 c.31T>C c.(31-33)Tgg>Cgg p.W11R AAMDC_ENST00000525034.1_Missense_Mutation_p.W30R|AAMDC_ENST00000526415.1_Missense_Mutation_p.W11R|AAMDC_ENST00000525409.1_Missense_Mutation_p.W11R|AAMDC_ENST00000393427.2_Missense_Mutation_p.W11R|RP11-91P24.7_ENST00000525594.1_RNA|AAMDC_ENST00000533193.1_Missense_Mutation_p.W11R|AAMDC_ENST00000532481.1_Missense_Mutation_p.W11R|AAMDC_ENST00000304716.8_Missense_Mutation_p.W11R adipogenesis associated, Mth938 domain containing TTCCTTATCATGGGGGCAAAT 0.388000 51 77 0 0 0.870114 0 0 PIP4K2A 5305 broad.mit.edu 37 10 23003251 23003251 + Missense_Mutation SNP G G A TCGA-BP-5181-01A-01D-1429-08 TCGA-BP-5181-11A-01D-1429-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ae20006-17ea-4a07-8e85-4cfa213a0951 6d0ac19f-1246-4895-8592-cd25ce28cce6 g.chr10:23003251G>A ENST00000376573.4 - 1 233 c.5C>T c.(4-6)gCg>gTg p.A2V NM_005028.4 NP_005019.2 P48426 PI42A_HUMAN phosphatidylinositol-5-phosphate 4-kinase, type II, alpha 2 1-phosphatidylinositol-4-phosphate 5-kinase activity|1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding endometrium(4)|kidney(13)|large_intestine(4)|lung(6)|ovary(1)|skin(1) 29 GCCGGGGGTCGCCATGGCCGC 0.687000 3 39 0 0 0.184627 0 0 PCNT 5116 broad.mit.edu 37 21 47776974 47776974 + Missense_Mutation SNP A A T TCGA-BP-5181-01A-01D-1429-08 TCGA-BP-5181-11A-01D-1429-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ae20006-17ea-4a07-8e85-4cfa213a0951 6d0ac19f-1246-4895-8592-cd25ce28cce6 g.chr21:47776974A>T ENST00000359568.5 + 13 2129 c.2022A>T c.(2020-2022)gaA>gaT p.E674D PCNT_ENST00000480896.1_3'UTR NM_006031.5 NP_006022.3 O95613 PCNT_HUMAN pericentrin 674 Glu-rich. cilium assembly|G2/M transition of mitotic cell cycle cytosol|microtubule calmodulin binding NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 104 Breast(49;0.112) TGGGTCTGGAAACTGAGCACA 0.498000 48 95 0 0 0.870114 0 0 TSC2 7249 broad.mit.edu 37 16 2111908 2111908 + Missense_Mutation SNP G G A rs137854007 TCGA-BP-5181-01A-01D-1429-08 TCGA-BP-5181-11A-01D-1429-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ae20006-17ea-4a07-8e85-4cfa213a0951 6d0ac19f-1246-4895-8592-cd25ce28cce6 g.chr16:2111908G>A ENST00000219476.3 + 12 1786 c.1156G>A c.(1156-1158)Gac>Aac p.D386N TSC2_ENST00000568454.1_Missense_Mutation_p.D397N|TSC2_ENST00000401874.2_Missense_Mutation_p.D386N|TSC2_ENST00000353929.4_Missense_Mutation_p.D386N|TSC2_ENST00000382538.6_Missense_Mutation_p.D337N|TSC2_ENST00000439673.2_Missense_Mutation_p.D349N|TSC2_ENST00000350773.4_Missense_Mutation_p.D386N NM_000548.3 NP_000539.2 P49815 TSC2_HUMAN tuberous sclerosis 2 386 Required for interaction with TSC1. cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex GTPase activator activity|protein homodimerization activity NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1) 56 Hepatocellular(780;0.0202) CATCGTCCATGACCTGTTGAC 0.587000 """D, Mis, N, F, S""" """hamartoma, renal cell""" Tuberous Sclerosis 36 74 0 0 0.819951 0 0 UBQLN1 29979 broad.mit.edu 37 9 86292725 86292725 + Missense_Mutation SNP G G T TCGA-BP-5181-01A-01D-1429-08 TCGA-BP-5181-11A-01D-1429-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ae20006-17ea-4a07-8e85-4cfa213a0951 6d0ac19f-1246-4895-8592-cd25ce28cce6 g.chr9:86292725G>T ENST00000376395.4 - 6 1545 c.1022C>A c.(1021-1023)aCt>aAt p.T341N UBQLN1_ENST00000257468.7_Missense_Mutation_p.T341N NM_013438.4|NM_053067.2 NP_038466.2|NP_444295.1 Q9UMX0 UBQL1_HUMAN ubiquilin 1 341 apoptosis|regulation of protein ubiquitination|response to hypoxia endoplasmic reticulum|nucleus|perinuclear region of cytoplasm|proteasome complex kinase binding breast(4)|endometrium(2)|kidney(4)|large_intestine(6)|lung(10)|prostate(1) 27 GCCACCCACAGTGCTGGCAGT 0.522000 37 68 7.04047e-22 8.73375e-22 0.812448 1 0 SIGLEC11 114132 broad.mit.edu 37 19 50453230 50453230 + Silent SNP C C T TCGA-BP-5181-01A-01D-1429-08 TCGA-BP-5181-11A-01D-1429-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ae20006-17ea-4a07-8e85-4cfa213a0951 6d0ac19f-1246-4895-8592-cd25ce28cce6 g.chr19:50453230C>T ENST00000447370.2 - 11 2184 c.2094G>A c.(2092-2094)aaG>aaA p.K698K SIGLEC11_ENST00000426971.2_Silent_p.K602K|CTC-326K19.6_ENST00000451973.1_Intron NM_052884.2 NP_443116.2 Q96RL6 SIG11_HUMAN sialic acid binding Ig-like lectin 11 698 cell adhesion integral to membrane sugar binding breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1) 32 all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17) GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517) GACCTCTTCACTTTGGAACCA 0.567000 10 23 0 0 0.361761 0 0 PCDHB3 56132 broad.mit.edu 37 5 140481574 140481574 + Silent SNP C C T TCGA-BP-5181-01A-01D-1429-08 TCGA-BP-5181-11A-01D-1429-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ae20006-17ea-4a07-8e85-4cfa213a0951 6d0ac19f-1246-4895-8592-cd25ce28cce6 g.chr5:140481574C>T ENST00000231130.2 + 1 1341 c.1341C>T c.(1339-1341)aaC>aaT p.N447N AC005754.7_ENST00000607216.1_RNA NM_018937.2 NP_061760.1 Q9Y5E6 PCDB3_HUMAN 447 Cadherin 4. 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) TCAATGACAACGCCCCCGCCT 0.562000 4 182 0 0 0.150653 0 0 RAB8A 4218 broad.mit.edu 37 19 16240402 16240402 + Missense_Mutation SNP G G C TCGA-BP-5181-01A-01D-1429-08 TCGA-BP-5181-11A-01D-1429-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ae20006-17ea-4a07-8e85-4cfa213a0951 6d0ac19f-1246-4895-8592-cd25ce28cce6 g.chr19:16240402G>C ENST00000300935.3 + 7 792 c.519G>C c.(517-519)atG>atC p.M173I CTD-2231E14.8_ENST00000597983.1_RNA|RAB8A_ENST00000586682.1_Missense_Mutation_p.G167R NM_005370.4 NP_005361.2 P61006 RAB8A_HUMAN RAB8A, member RAS oncogene family 173 cilium assembly|Golgi vesicle fusion to target membrane|protein transport|small GTPase mediated signal transduction|vesicle docking involved in exocytosis Golgi apparatus|nonmotile primary cilium|perinuclear region of cytoplasm|plasma membrane GTP binding|protein binding endometrium(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1) 8 AAGCAAAAATGGACAAAAAAT 0.517000 76 184 0 0 0.870114 0 0 VKORC1 79001 broad.mit.edu 37 16 31104693 31104693 + Missense_Mutation SNP T T G TCGA-BP-5181-01A-01D-1429-08 TCGA-BP-5181-11A-01D-1429-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ae20006-17ea-4a07-8e85-4cfa213a0951 6d0ac19f-1246-4895-8592-cd25ce28cce6 g.chr16:31104693T>G ENST00000319788.7 - 2 433 c.223A>C c.(223-225)Atc>Ctc p.I75L VKORC1_ENST00000394975.2_Missense_Mutation_p.I75L|RP11-196G11.1_ENST00000529564.1_Missense_Mutation_p.I75L|VKORC1_ENST00000354895.4_Intron|VKORC1_ENST00000300851.6_Missense_Mutation_p.H95P|VKORC1_ENST00000394971.3_Missense_Mutation_p.H106P|VKORC1_ENST00000498155.1_Missense_Mutation_p.H107P Q9BQB6 VKOR1_HUMAN vitamin K epoxide reductase complex, subunit 1 75 peptidyl-glutamic acid carboxylation|post-translational protein modification endoplasmic reticulum membrane|integral to membrane vitamin-K-epoxide reductase (warfarin-sensitive) activity lung(3)|urinary_tract(1) 4 Acenocoumarol(DB01418)|Dicumarol(DB00266)|Menadione(DB00170)|Phenindione(DB00498)|Phenprocoumon(DB00946)|Warfarin(DB00682) TGATTGAGGATGCTGTCCTGT 0.612000 32 76 0 0 0.819951 0 0 CEP85 64793 broad.mit.edu 37 1 26584685 26584685 + Silent SNP G G A TCGA-BP-5181-01A-01D-1429-08 TCGA-BP-5181-11A-01D-1429-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ae20006-17ea-4a07-8e85-4cfa213a0951 6d0ac19f-1246-4895-8592-cd25ce28cce6 g.chr1:26584685G>A ENST00000252992.4 + 6 1220 c.1089G>A c.(1087-1089)ctG>ctA p.L363L CEP85_ENST00000451429.2_Silent_p.L312L NM_022778.2 NP_073615.2 Q6P2H3 CEP85_HUMAN centrosomal protein 85kDa 363 centrosome|nucleolus|spindle pole breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(11)|skin(2) 25 AGAGCGAACTGCAAGTCCACA 0.557000 42 107 0 0 0.840704 0 0 RAP1GAP 5909 broad.mit.edu 37 1 21936688 21936688 + Missense_Mutation SNP C C T TCGA-BP-5181-01A-01D-1429-08 TCGA-BP-5181-11A-01D-1429-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ae20006-17ea-4a07-8e85-4cfa213a0951 6d0ac19f-1246-4895-8592-cd25ce28cce6 g.chr1:21936688C>T ENST00000542643.2 - 15 1226 c.924G>A c.(922-924)atG>atA p.M308I RAP1GAP_ENST00000374765.4_Missense_Mutation_p.M308I|RAP1GAP_ENST00000374761.2_Missense_Mutation_p.M339I|RAP1GAP_ENST00000374763.2_Missense_Mutation_p.M308I|RAP1GAP_ENST00000290101.4_Missense_Mutation_p.M372I NM_001145657.1 NP_001139129.1 P47736 RPGP1_HUMAN RAP1 GTPase activating protein 308 Rap-GAP. regulation of Ras GTPase activity|signal transduction cytosol|Golgi membrane|membrane fraction GTPase activator activity|GTPase activity|protein homodimerization activity|Ras GTPase binding breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|skin(1) 17 Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000861)|all_lung(284;0.000901)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427) UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;2.3e-26)|COAD - Colon adenocarcinoma(152;1.59e-05)|GBM - Glioblastoma multiforme(114;2.7e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000354)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00862)|READ - Rectum adenocarcinoma(331;0.0625)|Lung(427;0.146) TGGACGCGATCATGTCGGGCA 0.632000 47 73 0 0 0.870114 0 0 MUC5AC 4586 broad.mit.edu 37 11 1159013 1159013 + Silent SNP C C T TCGA-BP-5181-01A-01D-1429-08 TCGA-BP-5181-11A-01D-1429-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ae20006-17ea-4a07-8e85-4cfa213a0951 6d0ac19f-1246-4895-8592-cd25ce28cce6 g.chr11:1159013C>T ENST00000356191.2 + 15 1182 c.1182C>T c.(1180-1182)gtC>gtT p.V394V mucin 5AC, oligomeric mucus/gel-forming NS(1)|breast(2)|central_nervous_system(7)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(5)|kidney(9)|large_intestine(19)|liver(1)|lung(89)|ovary(7)|prostate(8)|skin(9)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 203 all_cancers(49;2.94e-05)|Breast(177;0.00257)|all_epithelial(84;0.00314)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) BRCA - Breast invasive adenocarcinoma(625;0.00146)|Lung(200;0.0612)|LUSC - Lung squamous cell carcinoma(625;0.0724) GTGCCTGCGTCTACAACGGGG 0.652000 26 54 0 0 0.693898 0 0 SREBF2 6721 broad.mit.edu 37 22 42294664 42294664 + Missense_Mutation SNP A A G TCGA-BP-5181-01A-01D-1429-08 TCGA-BP-5181-11A-01D-1429-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ae20006-17ea-4a07-8e85-4cfa213a0951 6d0ac19f-1246-4895-8592-cd25ce28cce6 g.chr22:42294664A>G ENST00000361204.4 + 15 2783 c.2617A>G c.(2617-2619)Atc>Gtc p.I873V SREBF2_ENST00000491541.1_3'UTR NM_004599.2 NP_004590.2 Q12772 SRBP2_HUMAN sterol regulatory element binding transcription factor 2 873 cholesterol metabolic process ER to Golgi transport vesicle membrane|Golgi membrane|nucleus|SREBP-SCAP-Insig complex protein C-terminus binding NS(2)|breast(6)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 38 TCCAGACATCATCTGTCGGTG 0.562000 23 42 0 0 0.667858 0 0 SLC28A3 64078 broad.mit.edu 37 9 86900351 86900351 + Missense_Mutation SNP T T G TCGA-BP-5181-01A-01D-1429-08 TCGA-BP-5181-11A-01D-1429-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ae20006-17ea-4a07-8e85-4cfa213a0951 6d0ac19f-1246-4895-8592-cd25ce28cce6 g.chr9:86900351T>G ENST00000376238.4 - 14 1605 c.1556A>C c.(1555-1557)gAa>gCa p.E519A SLC28A3_ENST00000537648.1_Missense_Mutation_p.E450A|RP11-380F14.2_ENST00000419815.1_RNA NM_001199633.1|NM_022127.2 NP_001186562.1|NP_071410.1 Q9HAS3 S28A3_HUMAN solute carrier family 28 (concentrative nucleoside transporter), member 3 519 nucleobase, nucleoside and nucleotide metabolic process integral to membrane|plasma membrane nucleoside binding endometrium(2)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 31 AGCCACAAATTCATTGAAGAA 0.423000 57 103 0 0 0.870114 0 0 MTSS1 9788 broad.mit.edu 37 8 125603469 125603469 + Silent SNP G G T TCGA-BP-5181-01A-01D-1429-08 TCGA-BP-5181-11A-01D-1429-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ae20006-17ea-4a07-8e85-4cfa213a0951 6d0ac19f-1246-4895-8592-cd25ce28cce6 g.chr8:125603469G>T ENST00000518547.1 - 4 689 c.216C>A c.(214-216)acC>acA p.T72T MTSS1_ENST00000354184.4_5'UTR|MTSS1_ENST00000378017.3_Silent_p.T72T|MTSS1_ENST00000325064.5_Silent_p.T72T NM_014751.4 NP_055566.3 O43312 MTSS1_HUMAN metastasis suppressor 1 72 IMD. actin cytoskeleton organization|cell adhesion|cellular component movement|filopodium assembly|transmembrane receptor protein tyrosine kinase signaling pathway actin cytoskeleton|endocytic vesicle|ruffle actin monomer binding|cytoskeletal adaptor activity|receptor binding|SH3 domain binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1) 37 Ovarian(258;0.00438)|all_neural(195;0.00459)|Hepatocellular(40;0.108) STAD - Stomach adenocarcinoma(47;0.00288) CAATCTCCCTGGTCCCACCTG 0.498000 25 74 9.39395e-14 1.09596e-13 0.706142 1 0 NPHP3 27031 broad.mit.edu 37 3 132432049 132432049 + Missense_Mutation SNP T T A TCGA-BP-5181-01A-01D-1429-08 TCGA-BP-5181-11A-01D-1429-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ae20006-17ea-4a07-8e85-4cfa213a0951 6d0ac19f-1246-4895-8592-cd25ce28cce6 g.chr3:132432049T>A ENST00000326682.8 - 6 1115 c.1039A>T c.(1039-1041)Aat>Tat p.N347Y NPHP3_ENST00000337331.5_Missense_Mutation_p.N347Y|NPHP3_ENST00000476742.1_5'UTR Q7Z494 NPHP3_HUMAN nephronophthisis 3 (adolescent) 347 maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway|Wnt receptor signaling pathway cilium protein binding NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 AGGTATTGATTTTCAACATCT 0.284000 53 81 0 0 0.870114 0 0 CD44 960 broad.mit.edu 37 11 35198275 35198275 + Missense_Mutation SNP T T A TCGA-BP-5181-01A-01D-1429-08 TCGA-BP-5181-11A-01D-1429-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ae20006-17ea-4a07-8e85-4cfa213a0951 6d0ac19f-1246-4895-8592-cd25ce28cce6 g.chr11:35198275T>A ENST00000263398.6 + 2 655 c.221T>A c.(220-222)tTt>tAt p.F74Y CD44_ENST00000434472.2_Missense_Mutation_p.F74Y|CD44_ENST00000433892.2_Missense_Mutation_p.F74Y|CD44_ENST00000433354.2_Missense_Mutation_p.F74Y|CD44_ENST00000360158.4_Missense_Mutation_p.F74Y|CD44_ENST00000526669.2_Missense_Mutation_p.F74Y|CD44_ENST00000437706.2_Missense_Mutation_p.F74Y|CD44_ENST00000352818.4_Missense_Mutation_p.F74Y|CD44_ENST00000526025.1_Missense_Mutation_p.F74Y|CD44_ENST00000278386.6_Missense_Mutation_p.F74Y|CD44_ENST00000449691.2_Missense_Mutation_p.F74Y|CD44_ENST00000428726.2_Missense_Mutation_p.F74Y|CD44_ENST00000415148.2_Missense_Mutation_p.F74Y NM_001001391.1|NM_001202555.1|NM_001202556.1 NP_001001391.1|NP_001189484.1|NP_001189485.1 P16070 CD44_HUMAN CD44 molecule (Indian blood group) 74 Link. cell-cell adhesion|cell-matrix adhesion|interferon-gamma-mediated signaling pathway|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation cell surface|Golgi apparatus|integral to plasma membrane collagen binding|hyaluronic acid binding|receptor activity cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|skin(1) 23 all_cancers(35;0.212)|all_lung(20;0.0874)|all_epithelial(35;0.112) all_hematologic(20;0.107) STAD - Stomach adenocarcinoma(6;0.00731) Hyaluronidase(DB00070) AGCATCGGATTTGAGACCTGC 0.592000 24 76 0 0 0.654019 0 0 IRX1 79192 broad.mit.edu 37 5 3601149 3601149 + Missense_Mutation SNP G G A TCGA-BP-5181-01A-01D-1429-08 TCGA-BP-5181-11A-01D-1429-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ae20006-17ea-4a07-8e85-4cfa213a0951 6d0ac19f-1246-4895-8592-cd25ce28cce6 g.chr5:3601149G>A ENST00000302006.3 + 4 1490 c.1438G>A c.(1438-1440)Gcc>Acc p.A480T NM_024337.3 NP_077313.3 P78414 IRX1_HUMAN iroquois homeobox 1 480 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 43 CCTCCCGTCCGCCTGATTAAG 0.582000 35 77 0 0 0.840704 0 0 RAP1GAP 5909 broad.mit.edu 37 1 21936673 21936673 + Silent SNP G G A TCGA-BP-5181-01A-01D-1429-08 TCGA-BP-5181-11A-01D-1429-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ae20006-17ea-4a07-8e85-4cfa213a0951 6d0ac19f-1246-4895-8592-cd25ce28cce6 g.chr1:21936673G>A ENST00000542643.2 - 15 1241 c.939C>T c.(937-939)ttC>ttT p.F313F RAP1GAP_ENST00000374765.4_Silent_p.F313F|RAP1GAP_ENST00000374761.2_Silent_p.F344F|RAP1GAP_ENST00000374763.2_Silent_p.F313F|RAP1GAP_ENST00000290101.4_Silent_p.F377F NM_001145657.1 NP_001139129.1 P47736 RPGP1_HUMAN RAP1 GTPase activating protein 313 Rap-GAP. regulation of Ras GTPase activity|signal transduction cytosol|Golgi membrane|membrane fraction GTPase activator activity|GTPase activity|protein homodimerization activity|Ras GTPase binding breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|skin(1) 17 Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000861)|all_lung(284;0.000901)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427) UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;2.3e-26)|COAD - Colon adenocarcinoma(152;1.59e-05)|GBM - Glioblastoma multiforme(114;2.7e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000354)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00862)|READ - Rectum adenocarcinoma(331;0.0625)|Lung(427;0.146) AGGCATGCAGGAAGTTGGACG 0.632000 41 71 0 0 0.840704 0 0 KL 9365 broad.mit.edu 37 13 33635704 33635704 + Missense_Mutation SNP G G A TCGA-BP-5181-01A-01D-1429-08 TCGA-BP-5181-11A-01D-1429-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ae20006-17ea-4a07-8e85-4cfa213a0951 6d0ac19f-1246-4895-8592-cd25ce28cce6 g.chr13:33635704G>A ENST00000380099.3 + 4 2496 c.2488G>A c.(2488-2490)Gtg>Atg p.V830M KL_ENST00000487852.1_3'UTR NM_004795.3 NP_004786.2 Q9UEF7 KLOT_HUMAN klotho 830 Glycosyl hydrolase-1 2. aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5) 41 all_epithelial(80;0.133) Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262) GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05) TTACCTAGAAGTGCAAGAAAT 0.458000 40 90 0 0 0.827153 0 0 HNRNPU 3192 broad.mit.edu 37 1 245021386 245021386 + Missense_Mutation SNP G G C TCGA-BP-5181-01A-01D-1429-08 TCGA-BP-5181-11A-01D-1429-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ae20006-17ea-4a07-8e85-4cfa213a0951 6d0ac19f-1246-4895-8592-cd25ce28cce6 g.chr1:245021386G>C ENST00000444376.2 - 7 1598 c.1364C>G c.(1363-1365)aCt>aGt p.T455S HNRNPU_ENST00000283179.9_Missense_Mutation_p.T474S NM_004501.3|NM_031844.2 NP_004492.2|NP_114032.2 Q00839 HNRPU_HUMAN heterogeneous nuclear ribonucleoprotein U (scaffold attachment factor A) 474 B30.2/SPRY. CRD-mediated mRNA stabilization catalytic step 2 spliceosome|cell surface|CRD-mediated mRNA stability complex|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm ATP binding|DNA binding|protein binding|RNA binding NS(1)|endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 all_cancers(71;6.97e-06)|all_epithelial(71;0.000104)|all_neural(11;0.0269)|Breast(184;0.0545)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0989)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.00868) CTGGATGAAAGTATACTCTTC 0.418000 43 91 0 0 0.840704 0 0 POU5F1 5460 broad.mit.edu 37 6 31138063 31138063 + Missense_Mutation SNP G G C TCGA-BP-5181-01A-01D-1429-08 TCGA-BP-5181-11A-01D-1429-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ae20006-17ea-4a07-8e85-4cfa213a0951 6d0ac19f-1246-4895-8592-cd25ce28cce6 g.chr6:31138063G>C ENST00000259915.8 - 1 407 c.335C>G c.(334-336)cCg>cGg p.P112R POU5F1_ENST00000441888.3_Intron NM_002701.4 NP_002692.2 Q01860 PO5F1_HUMAN POU class 5 homeobox 1 112 anatomical structure morphogenesis|blastocyst development|BMP signaling pathway involved in heart induction|cardiac cell fate determination|cell fate commitment involved in formation of primary germ layers|mRNA transcription from RNA polymerase II promoter|negative regulation of gene silencing by miRNA|positive regulation of catenin import into nucleus|positive regulation of SMAD protein import into nucleus|positive regulation of transcription from RNA polymerase II promoter|regulation of asymmetric cell division|regulation of heart induction by regulation of canonical Wnt receptor signaling pathway|regulation of methylation-dependent chromatin silencing|response to wounding|somatic stem cell maintenance cytosol|nucleoplasm|transcription factor complex miRNA binding|sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|ubiquitin protein ligase binding EWSR1/POU5F1(10) breast(1)|large_intestine(2)|lung(3)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 13 GCAGGGCTCCGGGGAGGCCCC 0.657000 T EWSR1 sarcoma 19 53 0 0 0.575678 0 0 ZBTB11 27107 broad.mit.edu 37 3 101378747 101378747 + Silent SNP A A T TCGA-BP-5181-01A-01D-1429-08 TCGA-BP-5181-11A-01D-1429-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ae20006-17ea-4a07-8e85-4cfa213a0951 6d0ac19f-1246-4895-8592-cd25ce28cce6 g.chr3:101378747A>T ENST00000312938.4 - 6 2506 c.1926T>A c.(1924-1926)tcT>tcA p.S642S NM_014415.3 NP_055230.2 O95625 ZBT11_HUMAN zinc finger and BTB domain containing 11 642 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 TGCCCTTCTCAGATGATGTTC 0.423000 54 110 0 0 0.870114 0 0 DNER 92737 broad.mit.edu 37 2 230253114 230253114 + Splice_Site SNP T T G TCGA-BP-5181-01A-01D-1429-08 TCGA-BP-5181-11A-01D-1429-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ae20006-17ea-4a07-8e85-4cfa213a0951 6d0ac19f-1246-4895-8592-cd25ce28cce6 g.chr2:230253114T>G ENST00000341772.4 - 11 1858 c.e11-2 NM_139072.3 NP_620711.3 Q8NFT8 DNER_HUMAN delta/notch-like EGF repeat containing 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) ACTCTTCACCTAGGGAGATAA 0.483000 4 229 0 0 0.150653 0 0 CBR3-AS1 100506428 broad.mit.edu 37 21 37505046 37505046 + RNA SNP T T A TCGA-BP-5181-01A-01D-1429-08 TCGA-BP-5181-11A-01D-1429-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ae20006-17ea-4a07-8e85-4cfa213a0951 6d0ac19f-1246-4895-8592-cd25ce28cce6 g.chr21:37505046T>A ENST00000413862.1 - 0 580 CBR3-AS1_ENST00000453159.1_RNA NR_038892.1 ATCCTGGGCCTGAAGATCAAT 0.542000 2 6 0 0 0.115264 0 0 KAT6A 7994 broad.mit.edu 37 8 41790405 41790405 + Missense_Mutation SNP G G T TCGA-BP-5181-01A-01D-1429-08 TCGA-BP-5181-11A-01D-1429-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ae20006-17ea-4a07-8e85-4cfa213a0951 6d0ac19f-1246-4895-8592-cd25ce28cce6 g.chr8:41790405G>T ENST00000396930.3 - 18 5876 c.5333C>A c.(5332-5334)aCt>aAt p.T1778N KAT6A_ENST00000406337.1_Missense_Mutation_p.T1778N|KAT6A_ENST00000265713.2_Missense_Mutation_p.T1778N NM_001099412.1 NP_001092882.1 Q92794 MYST3_HUMAN K(lysine) acetyltransferase 6A 1778 histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent MOZ/MORF histone acetyltransferase complex|nucleosome DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding TGCATAGGAAGTCACAGCAGG 0.532000 84 165 6.14238e-36 8.13451e-36 0.870114 1 0 DMRTB1 63948 broad.mit.edu 37 1 53925249 53925249 + Silent SNP C C T TCGA-BP-5181-01A-01D-1429-08 TCGA-BP-5181-11A-01D-1429-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ae20006-17ea-4a07-8e85-4cfa213a0951 6d0ac19f-1246-4895-8592-cd25ce28cce6 g.chr1:53925249C>T ENST00000371445.3 + 1 178 c.123C>T c.(121-123)taC>taT p.Y41Y NM_033067.1 NP_149056.1 Q96MA1 DMRTB_HUMAN DMRT-like family B with proline-rich C-terminal, 1 41 sex differentiation nucleus DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity large_intestine(3)|lung(5)|ovary(1)|skin(1) 10 AGAAGTGCTACCTGATCTCCG 0.657000 7 18 0 0 0.248553 0 0 NID1 4811 broad.mit.edu 37 1 236195855 236195856 + Frame_Shift_Ins INS - - T TCGA-BP-5181-01A-01D-1429-08 TCGA-BP-5181-11A-01D-1429-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ae20006-17ea-4a07-8e85-4cfa213a0951 6d0ac19f-1246-4895-8592-cd25ce28cce6 g.chr1:236195855_236195856insT ENST00000264187.6 - 6 1464_1465 c.1382_1383insA c.(1381-1383)tgtfs p.C461fs NID1_ENST00000366595.3_Frame_Shift_Ins_p.C461fs NM_002508.2 NP_002499.2 P14543 NID1_HUMAN nidogen 1 461 Nidogen G2 beta-barrel. cell-matrix adhesion basement membrane calcium ion binding breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1) 66 Ovarian(103;0.0544)|Breast(184;0.23) all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229) OV - Ovarian serous cystadenocarcinoma(106;0.00162) Becaplermin(DB00102)|Urokinase(DB00013) TCATTACTACGTAAGAGTGGAG 0.545 25 86 --- --- --- --- RGPD3 653489 broad.mit.edu 37 2 107052648 107052649 + Frame_Shift_Ins INS - - A TCGA-BP-5181-01A-01D-1429-08 TCGA-BP-5181-11A-01D-1429-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ae20006-17ea-4a07-8e85-4cfa213a0951 6d0ac19f-1246-4895-8592-cd25ce28cce6 g.chr2:107052648_107052649insA ENST00000409886.3 - 12 1775_1776 c.1688_1689insT c.(1687-1689)cagfs p.Q563fs RGPD3_ENST00000304514.7_Frame_Shift_Ins_p.Q563fs NM_001144013.1 NP_001137485.1 A6NKT7 RGPD3_HUMAN RANBP2-like and GRIP domain containing 3 563 intracellular transport binding breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2) 71 CCTGGGCTCTTAGAGTGTTTAT 0.342 58 149 --- --- --- --- VHL 7428 broad.mit.edu 37 3 10183805 10183809 + Frame_Shift_Del DEL GACGG GACGG - rs5030808 TCGA-BP-5181-01A-01D-1429-08 TCGA-BP-5181-11A-01D-1429-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ae20006-17ea-4a07-8e85-4cfa213a0951 6d0ac19f-1246-4895-8592-cd25ce28cce6 g.chr3:10183805_10183809delGACGG ENST00000256474.2 + 1 1114_1118 c.274_278delGACGG c.(274-279)cfs p.DG92fs VHL_ENST00000345392.2_Frame_Shift_Del_p.DG92fs NM_000551.3 NP_000542.1 P40337 VHL_HUMAN von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase 92 Missing (in VHLD; type I). anti-apoptosis|cell morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cell differentiation|positive regulation of transcription, DNA-dependent|protein stabilization|protein ubiquitination|proteolysis cytosol|endoplasmic reticulum|membrane|mitochondrion|nucleus protein binding|transcription factor binding p.G93fs*66(2)|p.G93R(2)|p.?_?ins?(1)|p.D92_G93>G(1)|p.D92fs*67(1)|p.F91fs*64(1)|p.R60fs*35(1)|p.N90fs*67(1)|p.D92Y(1)|p.V84_E94>E(1)|p.D92fs*68(1)|p.D92fs*38(1)|p.D92fs*65(1)|p.N90fs*38(1)|p.F91_E94del(1)|p.D92N(1)|p.G93S(1) adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3) 1769 Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569) GCTCAACTTCGACGGCGAGCCGCAG 0.717 1 """D, Mis, N, F, S""" """renal, hemangioma, pheochromocytoma""" """renal, hemangioma, pheochromocytoma""" von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia 5 11 --- --- --- --- RP11-371F15.3 0 broad.mit.edu 37 4 139786778 139786781 + RNA DEL GGAA GGAA - rs112477691 TCGA-BP-5181-01A-01D-1429-08 TCGA-BP-5181-11A-01D-1429-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ae20006-17ea-4a07-8e85-4cfa213a0951 6d0ac19f-1246-4895-8592-cd25ce28cce6 g.chr4:139786778_139786781delGGAA ENST00000507038.1 - 0 158 RP11-371F15.3_ENST00000511951.1_RNA aaggaaagagggaaggaaggaagg 0.436 3 6 --- --- --- --- AC006988.1 0 broad.mit.edu 37 7 88269891 88269891 + RNA DEL T T - TCGA-BP-5181-01A-01D-1429-08 TCGA-BP-5181-11A-01D-1429-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ae20006-17ea-4a07-8e85-4cfa213a0951 6d0ac19f-1246-4895-8592-cd25ce28cce6 g.chr7:88269891delT ENST00000390184.1 + 0 57 GAAGGAGCACTTTTTTTTTTT 0.313 5 9 --- --- --- --- HRCT1 646962 broad.mit.edu 37 9 35906583 35906584 + In_Frame_Ins INS - - CCA rs112821450 by1000genomes TCGA-BP-5181-01A-01D-1429-08 TCGA-BP-5181-11A-01D-1429-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ae20006-17ea-4a07-8e85-4cfa213a0951 6d0ac19f-1246-4895-8592-cd25ce28cce6 g.chr9:35906583_35906584insCCA ENST00000354323.2 + 1 395_396 c.299_300insCCA c.(298-300)cca>cCCAca p.100_101insT NM_001039792.1 NP_001034881.1 Q6UXD1 HRCT1_HUMAN histidine rich carboxyl terminus 1 100 His-rich. integral to membrane p.L100H(1) NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|prostate(1) 4 cctcaccacctccaccaccacc 0.668 7 41 --- --- --- --- PGM5P2 595135 broad.mit.edu 37 9 69128459 69128462 + RNA DEL GAAA GAAA - rs60552196 TCGA-BP-5181-01A-01D-1429-08 TCGA-BP-5181-11A-01D-1429-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ae20006-17ea-4a07-8e85-4cfa213a0951 6d0ac19f-1246-4895-8592-cd25ce28cce6 g.chr9:69128459_69128462delGAAA ENST00000591037.1 - 0 430 NR_002836.2 agaaaggaaggaaagaaagaaaga 0.377 5 5 --- --- --- --- CHPT1 56994 broad.mit.edu 37 12 102117531 102117531 + Frame_Shift_Del DEL T T - TCGA-BP-5181-01A-01D-1429-08 TCGA-BP-5181-11A-01D-1429-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ae20006-17ea-4a07-8e85-4cfa213a0951 6d0ac19f-1246-4895-8592-cd25ce28cce6 g.chr12:102117531delT ENST00000549872.1 + 7 1161 c.971delT c.(970-972)ctfs p.L324fs CHPT1_ENST00000229266.3_Frame_Shift_Del_p.L324fs Q8WUD6 CHPT1_HUMAN choline phosphotransferase 1 324 platelet activating factor biosynthetic process|regulation of cell growth Golgi membrane|integral to membrane|microsome diacylglycerol binding|diacylglycerol cholinephosphotransferase activity|metal ion binding kidney(2)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 10 GAACTATATCTTCAAGACACT 0.299 35 41 --- --- --- --- RP11-252A24.2 0 broad.mit.edu 37 16 74394379 74394380 + RNA INS - - A rs142790741 by1000genomes TCGA-BP-5181-01A-01D-1429-08 TCGA-BP-5181-11A-01D-1429-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ae20006-17ea-4a07-8e85-4cfa213a0951 6d0ac19f-1246-4895-8592-cd25ce28cce6 g.chr16:74394379_74394380insA ENST00000429810.2 - 0 435 TAGTCATCCTTAAACAAAATTC 0.347 4 3 --- --- --- --- LRRC37A4P 55073 broad.mit.edu 37 17 43590674 43590675 + RNA INS - - A TCGA-BP-5181-01A-01D-1429-08 TCGA-BP-5181-11A-01D-1429-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ae20006-17ea-4a07-8e85-4cfa213a0951 6d0ac19f-1246-4895-8592-cd25ce28cce6 g.chr17:43590674_43590675insA ENST00000253803.2 + 0 267 LRRC37A4P_ENST00000579913.1_RNA AACAAAAAAACAAAAAAAAAAC 0.332 2 4 --- --- --- --- LRG1 116844 broad.mit.edu 37 19 4538076 4538079 + Frame_Shift_Del DEL AGGT AGGT - TCGA-BP-5181-01A-01D-1429-08 TCGA-BP-5181-11A-01D-1429-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ae20006-17ea-4a07-8e85-4cfa213a0951 6d0ac19f-1246-4895-8592-cd25ce28cce6 g.chr19:4538076_4538079delAGGT ENST00000306390.6 - 2 1377_1380 c.917_920delACCT c.(916-921)agfs p.NL306fs CTB-50L17.14_ENST00000586020.1_Intron NM_052972.2 NP_443204.1 P02750 A2GL_HUMAN leucine-rich alpha-2-glycoprotein 1 306 LRRCT. Not glycosylated. extracellular region|membrane NS(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 13 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18) GAGGTCGCTCAGGTTCTGGTCACA 0.608 47 104 --- --- --- ---