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 CDK5R2 8941 broad.mit.edu 37 2 219825271 219825271 + Silent SNP C C T TCGA-G9-6347-01A-11D-A31L-08 TCGA-G9-6347-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 470a25cd-eea8-4ca6-b91c-86e36397135a b63236ea-caa8-44c1-ba56-d36c6c394c23 g.chr2:219825271C>T ENST00000302625.4 + 1 895 c.729C>T c.(727-729)tgC>tgT p.C243C AC097468.7_ENST00000429343.1_RNA NM_003936.4 NP_003927.1 Q13319 CD5R2_HUMAN cyclin-dependent kinase 5, regulatory subunit 2 (p39) 243 regulation of cyclin-dependent protein kinase activity cyclin-dependent protein kinase 5 holoenzyme complex cyclin-dependent protein kinase 5 activator activity central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(1)|ovary(1) 8 Renal(207;0.0474) Epithelial(149;9.77e-07)|all cancers(144;0.000167)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) ACCTGCTGTGCCGCGAGTCGC 0.662000 5 227 0 0 1 0 0 CDH7 1005 broad.mit.edu 37 18 63477082 63477082 + Missense_Mutation SNP A A G TCGA-G9-6347-01A-11D-A31L-08 TCGA-G9-6347-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 470a25cd-eea8-4ca6-b91c-86e36397135a b63236ea-caa8-44c1-ba56-d36c6c394c23 g.chr18:63477082A>G ENST00000536984.2 + 3 1047 c.353A>G c.(352-354)tAc>tGc p.Y118C CDH7_ENST00000397968.2_Missense_Mutation_p.Y118C|CDH7_ENST00000323011.3_Missense_Mutation_p.Y118C Q9ULB5 CADH7_HUMAN cadherin 7, type 2 118 Cadherin 1. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2) 80 Esophageal squamous(42;0.129) CAGGCCTACTACACGCTCCGA 0.502000 3 73 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29625947 29625947 + Missense_Mutation SNP T T C TCGA-G9-6347-01A-11D-A31L-08 TCGA-G9-6347-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 470a25cd-eea8-4ca6-b91c-86e36397135a b63236ea-caa8-44c1-ba56-d36c6c394c23 g.chr20:29625947T>C ENST00000278882.3 + 5 571 c.191T>C c.(190-192)aTt>aCt p.I64T FRG1B_ENST00000358464.4_Missense_Mutation_p.I64T|FRG1B_ENST00000439954.2_Missense_Mutation_p.I69T p.I64T(4) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 TCAGATGCAATTGGACCAAGA 0.343000 5 104 0 0 1 0 0 GOT2 2806 broad.mit.edu 37 16 58743428 58743428 + Missense_Mutation SNP G G A TCGA-G9-6347-01A-11D-A31L-08 TCGA-G9-6347-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 470a25cd-eea8-4ca6-b91c-86e36397135a b63236ea-caa8-44c1-ba56-d36c6c394c23 g.chr16:58743428G>A ENST00000245206.5 - 9 1191 c.1063C>T c.(1063-1065)Cgg>Tgg p.R355W GOT2_ENST00000434819.2_Missense_Mutation_p.R312W NM_002080.2 NP_002071.2 P00505 AATM_HUMAN glutamic-oxaloacetic transaminase 2, mitochondrial 355 aspartate catabolic process|fatty acid transport|gluconeogenesis|response to ethanol mitochondrial matrix|plasma membrane L-aspartate:2-oxoglutarate aminotransferase activity|protein binding|pyridoxal phosphate binding p.R355W(2)|p.R355G(1) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|prostate(2)|skin(1) 22 L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114) AGTTGAGTCCGCATGCCAATG 0.507000 5 324 0 0 1 0 0 OBSCN 84033 broad.mit.edu 37 1 228466419 228466419 + Missense_Mutation SNP C C T TCGA-G9-6347-01A-11D-A31L-08 TCGA-G9-6347-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 470a25cd-eea8-4ca6-b91c-86e36397135a b63236ea-caa8-44c1-ba56-d36c6c394c23 g.chr1:228466419C>T ENST00000570156.2 + 31 8250 c.8176C>T c.(8176-8178)Cgg>Tgg p.R2726W OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000359599.6_Missense_Mutation_p.R1144W|OBSCN_ENST00000422127.1_Missense_Mutation_p.R2297W|OBSCN_ENST00000284548.11_Missense_Mutation_p.R2297W|OBSCN_ENST00000366709.4_5'UTR NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 1724 Ig-like 26. 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) GCGCCCGCTGCGGGACAAGAT 0.662000 5 79 0 0 1 0 0 PET112 5188 broad.mit.edu 37 4 152592397 152592397 + Missense_Mutation SNP G G A TCGA-G9-6347-01A-11D-A31L-08 TCGA-G9-6347-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 470a25cd-eea8-4ca6-b91c-86e36397135a b63236ea-caa8-44c1-ba56-d36c6c394c23 g.chr4:152592397G>A ENST00000263985.6 - 13 1643 c.1603C>T c.(1603-1605)Cgg>Tgg p.R535W PET112_ENST00000515812.1_Missense_Mutation_p.R494W|PET112_ENST00000507592.1_5'UTR NM_004564.2 NP_004555.1 O75879 GATB_HUMAN PET112 homolog (yeast) 535 mitochondrion ATP binding|carbon-nitrogen ligase activity, with glutamine as amido-N-donor|translation factor activity, nucleic acid binding breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2) 23 L-Glutamic Acid(DB00142)|L-Glutamine(DB00130) GTCGCTTTCCGGACCAACCCA 0.448000 7 120 0 0 1 0 0 RNF135 84282 broad.mit.edu 37 17 29325769 29325769 + Missense_Mutation SNP C C T TCGA-G9-6347-01A-11D-A31L-08 TCGA-G9-6347-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 470a25cd-eea8-4ca6-b91c-86e36397135a b63236ea-caa8-44c1-ba56-d36c6c394c23 g.chr17:29325769C>T ENST00000328381.5 + 5 1732 c.859C>T c.(859-861)Cca>Tca p.P287S RNF135_ENST00000443677.2_3'UTR|RNF135_ENST00000535306.2_3'UTR|RNF135_ENST00000324689.4_3'UTR NM_032322.3 NP_115698.3 Q8IUD6 RN135_HUMAN ring finger protein 135 287 B30.2/SPRY. innate immune response|negative regulation of type I interferon production|positive regulation of interferon-beta production|regulation of innate immune response cytosol protein binding|ribonucleoprotein binding|ubiquitin-protein ligase activity|zinc ion binding p.?(1) breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(1)|skin(2)|urinary_tract(1) 10 all_cancers(10;8.65e-08)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Myeloproliferative disorder(56;0.0255) GTCTCACCGCCCACAACCCTA 0.522000 6 87 0 0 1 0 0 MRPS10 55173 broad.mit.edu 37 6 42176031 42176031 + Missense_Mutation SNP G G A TCGA-G9-6347-01A-11D-A31L-08 TCGA-G9-6347-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 470a25cd-eea8-4ca6-b91c-86e36397135a b63236ea-caa8-44c1-ba56-d36c6c394c23 g.chr6:42176031G>A ENST00000053468.3 - 7 617 c.602C>T c.(601-603)tCa>tTa p.S201L NM_018141.3 NP_060611.2 P82664 RT10_HUMAN mitochondrial ribosomal protein S10 201 translation actin cytoskeleton|mitochondrion|ribosome structural constituent of ribosome endometrium(1)|lung(1) 2 Colorectal(47;0.196) Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|Epithelial(12;0.00528) GAGGCTTTATGACTTGCTTTC 0.393000 10 324 0 0 1 0 0 PRKD1 5587 broad.mit.edu 37 14 30100144 30100144 + Silent SNP G G A TCGA-G9-6347-01A-11D-A31L-08 TCGA-G9-6347-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 470a25cd-eea8-4ca6-b91c-86e36397135a b63236ea-caa8-44c1-ba56-d36c6c394c23 g.chr14:30100144G>A ENST00000331968.5 - 10 1705 c.1476C>T c.(1474-1476)ttC>ttT p.F492F PRKD1_ENST00000415220.2_Silent_p.F500F NM_002742.2 NP_002733.2 Q15139 KPCD1_HUMAN protein kinase D1 492 PH. 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) TAGTGATTTCGAAACAATGAG 0.398000 6 88 0 0 1 0 0 PCDHA7 0 broad.mit.edu 37 5 140215658 140215658 + Missense_Mutation SNP G G T TCGA-G9-6347-01A-11D-A31L-08 TCGA-G9-6347-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 470a25cd-eea8-4ca6-b91c-86e36397135a b63236ea-caa8-44c1-ba56-d36c6c394c23 g.chr5:140215658G>T ENST00000525929.1 + 1 1690 c.1690G>T c.(1690-1692)Gca>Tca p.A564S PCDHA1_ENST00000394633.3_Intron|PCDHA7_ENST00000378125.3_Missense_Mutation_p.A564S|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron NM_018910.2 NP_061733.1 NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 63 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CAACGCGCCGGCACTGCTGGC 0.687000 19 184 1.56452e-12 1.56452e-12 1 1 0 FSCN3 29999 broad.mit.edu 37 7 127235472 127235472 + Missense_Mutation SNP C C T rs146886586 TCGA-G9-6347-01A-11D-A31L-08 TCGA-G9-6347-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 470a25cd-eea8-4ca6-b91c-86e36397135a b63236ea-caa8-44c1-ba56-d36c6c394c23 g.chr7:127235472C>T ENST00000265825.5 + 2 475 c.256C>T c.(256-258)Cgc>Tgc p.R86C FSCN3_ENST00000478328.1_3'UTR|FSCN3_ENST00000420086.2_5'UTR NM_020369.2 NP_065102.1 Q9NQT6 FSCN3_HUMAN fascin homolog 3, actin-bundling protein, testicular (Strongylocentrotus purpuratus) 86 actin cytoskeleton|cytoplasm actin filament binding|protein binding, bridging endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 30 GTGTTATGGCCGCCCAAGGAC 0.562000 8 72 0 0 1 0 0 R3HDM1 23518 broad.mit.edu 37 2 136481598 136481598 + Silent SNP C C T TCGA-G9-6347-01A-11D-A31L-08 TCGA-G9-6347-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 470a25cd-eea8-4ca6-b91c-86e36397135a b63236ea-caa8-44c1-ba56-d36c6c394c23 g.chr2:136481598C>T ENST00000264160.4 + 26 3406 c.3036C>T c.(3034-3036)ggC>ggT p.G1012G R3HDM1_ENST00000410054.1_Silent_p.G957G|R3HDM1_ENST00000409606.1_Silent_p.G1013G|R3HDM1_ENST00000329971.3_Silent_p.G883G|R3HDM1_ENST00000409478.1_Silent_p.G884G NM_015361.2 NP_056176.2 Q15032 R3HD1_HUMAN R3H domain containing 1 1012 nucleic acid binding breast(2)|endometrium(6)|kidney(5)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3) 38 BRCA - Breast invasive adenocarcinoma(221;0.127) TTAAAATTGGCGCCAAGATCC 0.517000 4 110 0 0 1 0 0 OR8K1 390157 broad.mit.edu 37 11 56113902 56113902 + Missense_Mutation SNP G G A TCGA-G9-6347-01A-11D-A31L-08 TCGA-G9-6347-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 470a25cd-eea8-4ca6-b91c-86e36397135a b63236ea-caa8-44c1-ba56-d36c6c394c23 g.chr11:56113902G>A ENST00000279783.2 + 1 482 c.388G>A c.(388-390)Gta>Ata p.V130I NM_001002907.1 NP_001002907.1 Q8NGG5 OR8K1_HUMAN olfactory receptor, family 8, subfamily K, member 1 130 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.V130I(1) 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) TGATCGCTACGTAGCCATCTG 0.413000 HNSCC(65;0.19) 10 196 0 0 1 0 0 KRT16P2 0 broad.mit.edu 37 17 16734855 16734855 + RNA SNP C C T rs688852 by1000genomes TCGA-G9-6347-01A-11D-A31L-08 TCGA-G9-6347-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 470a25cd-eea8-4ca6-b91c-86e36397135a b63236ea-caa8-44c1-ba56-d36c6c394c23 g.chr17:16734855C>T ENST00000579062.1 - 0 460 p.R183Q(1) CACAGTCTGCCGCAGGGCCAG 0.632000 3 47 0 0 1 0 0 IGLV2-8 0 broad.mit.edu 37 22 23165593 23165593 + RNA SNP C C T TCGA-G9-6347-01A-11D-A31L-08 TCGA-G9-6347-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 470a25cd-eea8-4ca6-b91c-86e36397135a b63236ea-caa8-44c1-ba56-d36c6c394c23 g.chr22:23165593C>T ENST00000390317.2 + 0 326 AACTATGTCTCCTGGTACCAA 0.572000 5 433 0 0 1 0 0 EP400 57634 broad.mit.edu 37 12 132547087 132547087 + Silent SNP G G A rs12366766 TCGA-G9-6347-01A-11D-A31L-08 TCGA-G9-6347-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 470a25cd-eea8-4ca6-b91c-86e36397135a b63236ea-caa8-44c1-ba56-d36c6c394c23 g.chr12:132547087G>A ENST00000333577.4 + 48 8392 c.8283G>A c.(8281-8283)caG>caA p.Q2761Q EP400_ENST00000330386.6_Silent_p.Q2644Q|EP400_ENST00000332482.4_Silent_p.Q2688Q|EP400_ENST00000389562.2_Silent_p.Q2724Q|EP400_ENST00000389561.2_Silent_p.Q2725Q Q96L91 EP400_HUMAN E1A binding protein p400 2761 Interaction with ZNF42 (By similarity).|Poly-Gln. histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity p.Q2724Q(16)|p.Q2725Q(1) NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 161 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) agcagcagcagcaacaacagc 0.562000 4 73 0 0 1 0 0 TIAM2 26230 broad.mit.edu 37 6 155561701 155561701 + Translation_Start_Site SNP A A T TCGA-G9-6347-01A-11D-A31L-08 TCGA-G9-6347-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 470a25cd-eea8-4ca6-b91c-86e36397135a b63236ea-caa8-44c1-ba56-d36c6c394c23 g.chr6:155561701A>T ENST00000275246.7 + 0 492 TIAM2_ENST00000318981.5_Missense_Mutation_p.N1069I|TIAM2_ENST00000456144.1_Missense_Mutation_p.N1069I|TIAM2_ENST00000461783.3_Missense_Mutation_p.N1069I|TIAM2_ENST00000528391.2_Missense_Mutation_p.N405I|TIAM2_ENST00000367174.2_Missense_Mutation_p.N445I|TIAM2_ENST00000360366.4_Missense_Mutation_p.N1093I|TIAM2_ENST00000529824.2_Missense_Mutation_p.N1069I|TIAM2_ENST00000456877.2_Missense_Mutation_p.N381I NM_001010927.2 NP_001010927.1 Q8IVF5 TIAM2_HUMAN T-cell lymphoma invasion and metastasis 2 apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|filopodium|growth cone|lamellipodium receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4) 65 Ovarian(120;0.196) OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053) AGGAGTTTTAACGACAGTCAG 0.582000 5 53 0 0 1 0 0 EGR3 1960 broad.mit.edu 37 8 22548994 22548994 + Splice_Site SNP C C G TCGA-G9-6347-01A-11D-A31L-08 TCGA-G9-6347-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 470a25cd-eea8-4ca6-b91c-86e36397135a b63236ea-caa8-44c1-ba56-d36c6c394c23 g.chr8:22548994C>G ENST00000317216.2 - 2 513 c.154_splice c.e2-1 p.E52_splice EGR3_ENST00000519492.1_Splice_Site_p.R70_splice|EGR3_ENST00000524088.1_5'UTR|RP11-459E5.1_ENST00000523627.1_RNA|EGR3_ENST00000522910.1_Splice_Site_p.E14_splice NM_001199881.1|NM_004430.2 NP_001186810.1|NP_004421.2 Q06889 EGR3_HUMAN early growth response 3 52 circadian rhythm|muscle organ development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 10 Prostate(55;0.0421)|Breast(100;0.102) Colorectal(74;0.0145)|BRCA - Breast invasive adenocarcinoma(99;0.053)|COAD - Colon adenocarcinoma(73;0.0608) CCATTACATTCTCTGCGGAGA 0.667000 5 103 0 0 1 0 0 POM121L9P 0 broad.mit.edu 37 22 24659593 24659593 + RNA SNP C C T TCGA-G9-6347-01A-11D-A31L-08 TCGA-G9-6347-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 470a25cd-eea8-4ca6-b91c-86e36397135a b63236ea-caa8-44c1-ba56-d36c6c394c23 g.chr22:24659593C>T ENST00000414583.2 + 0 3118 NR_003714.1 TCACTGACATCGAAGGCTGCC 0.632000 5 25 0 0 1 0 0 MLLT3 4300 broad.mit.edu 37 9 20414346 20414346 + Silent SNP G G A TCGA-G9-6347-01A-11D-A31L-08 TCGA-G9-6347-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 470a25cd-eea8-4ca6-b91c-86e36397135a b63236ea-caa8-44c1-ba56-d36c6c394c23 g.chr9:20414346G>A ENST00000380338.4 - 5 784 c.498C>T c.(496-498)agC>agT p.S166S MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S163S|MLLT3_ENST00000475957.1_5'UTR NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 166 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.S166S(4) central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7) 66 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) tgctgctactgctgctgctgc 0.527000 T MLL ALL 4 52 0 0 1 0 0 KIF3C 3797 broad.mit.edu 37 2 26203359 26203359 + Silent SNP C C T TCGA-G9-6347-01A-11D-A31L-08 TCGA-G9-6347-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 470a25cd-eea8-4ca6-b91c-86e36397135a b63236ea-caa8-44c1-ba56-d36c6c394c23 g.chr2:26203359C>T ENST00000264712.3 - 1 2007 c.1428G>A c.(1426-1428)caG>caA p.Q476Q KIF3C_ENST00000405914.1_Silent_p.Q476Q NM_002254.6 NP_002245.4 O14782 KIF3C_HUMAN kinesin family member 3C 476 blood coagulation|microtubule-based movement cytosol|kinesin complex|microtubule ATP binding|microtubule motor activity breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TGCGGTCATCCTGGATGGCTG 0.617000 6 123 0 0 1 0 0 KLHDC7A 127707 broad.mit.edu 37 1 18807930 18807930 + Missense_Mutation SNP A A G TCGA-G9-6347-01A-11D-A31L-08 TCGA-G9-6347-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 470a25cd-eea8-4ca6-b91c-86e36397135a b63236ea-caa8-44c1-ba56-d36c6c394c23 g.chr1:18807930A>G ENST00000400664.1 + 1 507 c.455A>G c.(454-456)aAc>aGc p.N152S NM_152375.2 NP_689588.2 Q5VTJ3 KLD7A_HUMAN kelch domain containing 7A 152 integral to membrane endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2) 22 Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) GTTGGCAGTAACCCTGACCCT 0.647000 4 71 0 0 1 0 0 POM121L9P 0 broad.mit.edu 37 22 24659591 24659591 + RNA SNP A A G TCGA-G9-6347-01A-11D-A31L-08 TCGA-G9-6347-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 470a25cd-eea8-4ca6-b91c-86e36397135a b63236ea-caa8-44c1-ba56-d36c6c394c23 g.chr22:24659591A>G ENST00000414583.2 + 0 3116 NR_003714.1 ACTCACTGACATCGAAGGCTG 0.632000 5 25 0 0 1 0 0 MDM1 56890 broad.mit.edu 37 12 68710032 68710032 + Splice_Site SNP A A G TCGA-G9-6347-01A-11D-A31L-08 TCGA-G9-6347-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 470a25cd-eea8-4ca6-b91c-86e36397135a b63236ea-caa8-44c1-ba56-d36c6c394c23 g.chr12:68710032A>G ENST00000303145.7 - 8 1093 c.1005_splice c.e8-1 p.V336_splice MDM1_ENST00000540418.1_Splice_Site_p.V56_splice|MDM1_ENST00000411698.2_Splice_Site_p.V301_splice NM_017440.4 NP_059136.2 Q8TC05 MDM1_HUMAN Mdm1 nuclear protein homolog (mouse) 336 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) GAGTTCTTTAACCTATTCAGG 0.403000 3 36 0 0 1 0 0 C6orf70 0 broad.mit.edu 37 6 170162587 170162587 + Missense_Mutation SNP C C T TCGA-G9-6347-01A-11D-A31L-08 TCGA-G9-6347-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 470a25cd-eea8-4ca6-b91c-86e36397135a b63236ea-caa8-44c1-ba56-d36c6c394c23 g.chr6:170162587C>T ENST00000588451.1 + 9 1055 c.542C>T c.(541-543)gCc>gTc p.A181V C6orf70_ENST00000418781.3_Missense_Mutation_p.A307V|C6orf70_ENST00000366772.2_Missense_Mutation_p.A307V|C6orf70_ENST00000392095.4_Missense_Mutation_p.A181V|C6orf70_ENST00000366773.3_Missense_Mutation_p.A307V Q5T6L9 CF070_HUMAN 307 integral to membrane breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(1) 20 Breast(66;5.08e-05)|Ovarian(120;0.208) OV - Ovarian serous cystadenocarcinoma(33;1.2e-22)|BRCA - Breast invasive adenocarcinoma(81;1.49e-07)|GBM - Glioblastoma multiforme(31;0.00191) AATGTTTTTGCCACACTTAAC 0.383000 4 134 0 0 1 0 0 ZNF783 100289678 broad.mit.edu 37 7 148979001 148979001 + Missense_Mutation SNP G G A TCGA-G9-6347-01A-11D-A31L-08 TCGA-G9-6347-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 470a25cd-eea8-4ca6-b91c-86e36397135a b63236ea-caa8-44c1-ba56-d36c6c394c23 g.chr7:148979001G>A ENST00000434415.1 + 6 1371 c.1208G>A c.(1207-1209)gGc>gAc p.G403D ZNF783_ENST00000489518.1_Intron NM_001195220.1 NP_001182149.1 C9J9J2 C9J9J2_HUMAN zinc finger family member 783 403 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1) 22 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.0014) GTGGTACCCGGCCCTGTCATC 0.746000 3 18 0 0 1 0 0 KLK8 11202 broad.mit.edu 37 19 51499377 51499377 + Missense_Mutation SNP C C T rs56296296 byFrequency TCGA-G9-6347-01A-11D-A31L-08 TCGA-G9-6347-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 470a25cd-eea8-4ca6-b91c-86e36397135a b63236ea-caa8-44c1-ba56-d36c6c394c23 g.chr19:51499377C>T ENST00000600767.1 - 7 1210 c.721G>A c.(721-723)Gtc>Atc p.V241I KLK8_ENST00000391806.2_Missense_Mutation_p.V286I|KLK8_ENST00000347619.4_Missense_Mutation_p.V100I|KLK8_ENST00000320838.5_3'UTR|KLK8_ENST00000593490.1_3'UTR|KLK8_ENST00000598195.1_5'UTR|KLK8_ENST00000291726.7_Missense_Mutation_p.V241I|CTB-147C22.9_ENST00000594512.1_RNA O60259 KLK8_HUMAN kallikrein-related peptidase 8 241 Peptidase S1. cell death|keratinocyte proliferation|memory|negative regulation of axon regeneration|negative regulation of myelination|neuron projection morphogenesis|proteolysis|regulation of synapse organization|response to wounding cytoplasm|extracellular space protein binding|serine-type endopeptidase activity p.V286I(1) central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(8)|prostate(1) 15 all_neural(266;0.026) OV - Ovarian serous cystadenocarcinoma(262;0.0033)|GBM - Glioblastoma multiforme(134;0.00888) TTGGTATAGACGCCAGGTTTG 0.542000 4 174 0 0 1 0 0 PRRC2B 84726 broad.mit.edu 37 9 134366823 134366823 + Silent SNP A A T TCGA-G9-6347-01A-11D-A31L-08 TCGA-G9-6347-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 470a25cd-eea8-4ca6-b91c-86e36397135a b63236ea-caa8-44c1-ba56-d36c6c394c23 g.chr9:134366823A>T ENST00000357304.4 + 28 6292 c.6237A>T c.(6235-6237)ccA>ccT p.P2079P PRRC2B_ENST00000458550.1_Silent_p.P1385P|PRRC2B_ENST00000405995.1_Silent_p.P1385P|PRRC2B_ENST00000372249.1_Silent_p.P176P|PRRC2B_ENST00000465931.1_3'UTR NM_013318.3 NP_037450.2 Q5JSZ5 PRC2B_HUMAN proline-rich coiled-coil 2B 2079 protein binding cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2) 44 TGACCATGCCACTGCCTCGGT 0.612000 12 105 0 0 1 0 0 LL22NC03-80A10.6 0 broad.mit.edu 37 22 22663087 22663087 + RNA SNP A A G rs1054158 TCGA-G9-6347-01A-11D-A31L-08 TCGA-G9-6347-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 470a25cd-eea8-4ca6-b91c-86e36397135a b63236ea-caa8-44c1-ba56-d36c6c394c23 g.chr22:22663087A>G ENST00000426066.1 + 0 526 NR_027293.1 GCTGCCACATAAGTTGTCCTT 0.303000 5 36 0 0 1 0 0 PARG 8505 broad.mit.edu 37 10 51093329 51093329 + Missense_Mutation SNP C C T TCGA-G9-6347-01A-11D-A31L-08 TCGA-G9-6347-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 470a25cd-eea8-4ca6-b91c-86e36397135a b63236ea-caa8-44c1-ba56-d36c6c394c23 g.chr10:51093329C>T ENST00000402038.3 - 4 294 c.295G>A c.(295-297)Gca>Aca p.A99T NM_003631.2 NP_003622.2 Q86W56 PARG_HUMAN poly (ADP-ribose) glycohydrolase 584 carbohydrate metabolic process nucleus poly(ADP-ribose) glycohydrolase activity p.A584T(1) endometrium(5)|kidney(2)|lung(1)|ovary(2) 10 Epithelial(53;0.213) TGAGCTTCTGCTTCTTCAAGT 0.318000 4 52 0 0 1 0 0 HM13 81502 broad.mit.edu 37 20 30115327 30115327 + Missense_Mutation SNP C C T TCGA-G9-6347-01A-11D-A31L-08 TCGA-G9-6347-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 470a25cd-eea8-4ca6-b91c-86e36397135a b63236ea-caa8-44c1-ba56-d36c6c394c23 g.chr20:30115327C>T ENST00000335574.5 + 2 348 c.224C>T c.(223-225)gCc>gTc p.A75V HM13_ENST00000340852.5_Missense_Mutation_p.A75V|HM13_ENST00000398174.3_Missense_Mutation_p.A75V|HM13_ENST00000376127.3_Missense_Mutation_p.A75V NM_178580.1 NP_848695.1 Q8TCT9 HM13_HUMAN histocompatibility (minor) 13 75 membrane protein proteolysis cell surface|endoplasmic reticulum membrane|integral to membrane|plasma membrane aspartic-type endopeptidase activity|protein binding breast(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|urinary_tract(1) 12 all_cancers(5;3.44e-05)|Lung NSC(7;4.38e-06)|all_lung(7;7.65e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198) all cancers(5;0.000479)|Colorectal(19;0.00202)|COAD - Colon adenocarcinoma(19;0.0264) AGCCGGGATGCCGCCCGCTTC 0.502000 4 163 0 0 1 0 0 TBP 6908 broad.mit.edu 37 6 170871043 170871043 + Silent SNP G G A TCGA-G9-6347-01A-11D-A31L-08 TCGA-G9-6347-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 470a25cd-eea8-4ca6-b91c-86e36397135a b63236ea-caa8-44c1-ba56-d36c6c394c23 g.chr6:170871043G>A ENST00000392092.2 + 3 498 c.219G>A c.(217-219)caG>caA p.Q73Q TBP_ENST00000540980.1_Silent_p.Q53Q|TBP_ENST00000230354.6_Silent_p.Q73Q NM_003194.4 NP_003185.1 P20226 TBP_HUMAN TATA box binding protein 73 Poly-Gln. cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction transcription factor TFIIA complex|transcription factor TFIID complex repressing transcription factor binding|transcription regulatory region DNA binding p.Q73Q(1) breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1) 26 Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246) OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591) agcagcaacagcaacagcagc 0.562000 5 50 0 0 1 0 0 MUC1 4582 broad.mit.edu 37 1 155161799 155161799 + Missense_Mutation SNP T T G TCGA-G9-6347-01A-11D-A31L-08 TCGA-G9-6347-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 470a25cd-eea8-4ca6-b91c-86e36397135a b63236ea-caa8-44c1-ba56-d36c6c394c23 g.chr1:155161799T>G ENST00000368395.1 - 2 405 c.334A>C c.(334-336)Acc>Ccc p.T112P MUC1_ENST00000368396.4_Intron|MUC1_ENST00000368390.3_Intron|MUC1_ENST00000368398.3_Intron|MUC1_ENST00000462215.1_Intron|MUC1_ENST00000457295.2_Intron|MUC1_ENST00000342482.4_Intron|MUC1_ENST00000438413.1_Intron|MUC1_ENST00000343256.5_Intron|MUC1_ENST00000338684.5_Intron|MUC1_ENST00000368389.2_Intron|MUC1_ENST00000368393.3_Intron|MUC1_ENST00000368392.3_Intron|MUC1_ENST00000337604.5_Intron NM_001204285.1|NM_001204286.1 NP_001191214.1|NP_001191215.1 P15941 MUC1_HUMAN mucin 1, cell surface associated 892 apical plasma membrane|cell surface|cytoplasm|extracellular region|integral to plasma membrane|nucleus protein binding breast(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|skin(2) 10 all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) Epithelial(20;5.31e-10)|all cancers(21;2.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193) GCTGGCGGGGTGGTGGAGCCC 0.711000 T IGH@ B-NHL 8 19 0 0 1 0 0 SETDB1 9869 broad.mit.edu 37 1 150936826 150936826 + Missense_Mutation SNP G G C TCGA-G9-6347-01A-11D-A31L-08 TCGA-G9-6347-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 470a25cd-eea8-4ca6-b91c-86e36397135a b63236ea-caa8-44c1-ba56-d36c6c394c23 g.chr1:150936826G>C ENST00000271640.5 + 22 4052 c.3862G>C c.(3862-3864)Gga>Cga p.G1288R CERS2_ENST00000561294.1_Silent_p.S367S|SETDB1_ENST00000368969.4_Missense_Mutation_p.G1287R NM_001145415.1|NM_012432.3 NP_001138887.1|NP_036564.3 Q15047 SETB1_HUMAN SET domain, bifurcated 1 1288 Post-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) TGAATGCAGAGGACGTCTTCT 0.522000 6 23 0 0 1 0 0 MYLK 4638 broad.mit.edu 37 3 123383037 123383037 + Silent SNP C C T TCGA-G9-6347-01A-11D-A31L-08 TCGA-G9-6347-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 470a25cd-eea8-4ca6-b91c-86e36397135a b63236ea-caa8-44c1-ba56-d36c6c394c23 g.chr3:123383037C>T ENST00000360772.3 - 24 4278 c.3900G>A c.(3898-3900)gcG>gcA p.A1300A MYLK_ENST00000475616.1_Silent_p.A1300A|MYLK_ENST00000360304.3_Silent_p.A1300A|MYLK_ENST00000359169.1_Silent_p.A1300A|MYLK_ENST00000354792.5_Silent_p.A100A|MYLK_ENST00000346322.5_Silent_p.A1231A Q15746 MYLK_HUMAN myosin light chain kinase 1300 Actin-binding (calcium/calmodulin- insensitive) (By similarity).|Ig-like C2-type 8. A -> G (in Ref. 1; CAA59685). aorta smooth muscle tissue morphogenesis|muscle contraction cytosol actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 113 Lung NSC(201;0.0496) GBM - Glioblastoma multiforme(114;0.0736) GCTCCTGGCGCGCGGCCAGGA 0.627000 23 216 0 0 1 0 0 ANKRD36C 400986 broad.mit.edu 37 2 96593000 96593000 + Missense_Mutation SNP A A G rs111976783 TCGA-G9-6347-01A-11D-A31L-08 TCGA-G9-6347-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 470a25cd-eea8-4ca6-b91c-86e36397135a b63236ea-caa8-44c1-ba56-d36c6c394c23 g.chr2:96593000A>G ENST00000456556.1 - 28 1985 c.1901T>C c.(1900-1902)aTa>aCa p.I634T ankyrin repeat domain 36C p.I634T(1) breast(1)|endometrium(8)|kidney(5)|lung(4) 18 TTCTGTGGCTATATTTGAAAC 0.338000 5 58 0 0 1 0 0 PKD1 5310 broad.mit.edu 37 16 2142146 2142146 + Silent SNP C C T TCGA-G9-6347-01A-11D-A31L-08 TCGA-G9-6347-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 470a25cd-eea8-4ca6-b91c-86e36397135a b63236ea-caa8-44c1-ba56-d36c6c394c23 g.chr16:2142146C>T ENST00000262304.4 - 40 11521 c.11313G>A c.(11311-11313)tcG>tcA p.S3771S RP11-304L19.1_ENST00000570072.1_RNA|PKD1_ENST00000423118.1_Silent_p.S3770S NM_001009944.2 NP_001009944.2 P98161 PKD1_HUMAN polycystic kidney disease 1 (autosomal dominant) 3771 calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway basolateral plasma membrane|integral to plasma membrane protein domain specific binding|sugar binding breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3) 72 CTCCTGCGGCCGAGCACGTGT 0.647000 7 32 0 0 1 0 0 SCN5A 6331 broad.mit.edu 37 3 38627374 38627374 + Silent SNP G G A TCGA-G9-6347-01A-11D-A31L-08 TCGA-G9-6347-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 470a25cd-eea8-4ca6-b91c-86e36397135a b63236ea-caa8-44c1-ba56-d36c6c394c23 g.chr3:38627374G>A ENST00000413689.1 - 16 2788 c.2595C>T c.(2593-2595)taC>taT p.Y865Y SCN5A_ENST00000414099.2_Silent_p.Y865Y|SCN5A_ENST00000455624.2_Silent_p.Y865Y|SCN5A_ENST00000425664.1_Silent_p.Y865Y|SCN5A_ENST00000451551.2_Silent_p.Y865Y|SCN5A_ENST00000333535.4_Silent_p.Y865Y|SCN5A_ENST00000450102.2_Silent_p.Y865Y|SCN5A_ENST00000449557.2_Silent_p.Y865Y|SCN5A_ENST00000443581.1_Silent_p.Y865Y|SCN5A_ENST00000423572.2_Silent_p.Y865Y NM_001099404.1|NM_001160160.1 NP_001092874.1|NP_001153632.1 Q14524 SCN5A_HUMAN sodium channel, voltage-gated, type V, alpha subunit 865 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) TCAGCTCCGAGTAGTTCTTGC 0.562000 9 127 0 0 1 0 0 ANKRD36C 400986 broad.mit.edu 37 2 96593025 96593025 + Missense_Mutation SNP C C T rs75189823 by1000genomes TCGA-G9-6347-01A-11D-A31L-08 TCGA-G9-6347-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 470a25cd-eea8-4ca6-b91c-86e36397135a b63236ea-caa8-44c1-ba56-d36c6c394c23 g.chr2:96593025C>T ENST00000456556.1 - 28 1960 c.1876G>A c.(1876-1878)Gat>Aat p.D626N ankyrin repeat domain 36C p.D626N(1) breast(1)|endometrium(8)|kidney(5)|lung(4) 18 TCTTTCTCATCACTTGTAGCC 0.318000 5 51 0 0 1 0 0 RP11-798G7.5 0 broad.mit.edu 37 17 43587569 43587569 + RNA SNP G G C rs149697015 by1000genomes TCGA-G9-6347-01A-11D-A31L-08 TCGA-G9-6347-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 470a25cd-eea8-4ca6-b91c-86e36397135a b63236ea-caa8-44c1-ba56-d36c6c394c23 g.chr17:43587569G>C ENST00000253803.2 + 0 267 LRRC37A4P_ENST00000579913.1_RNA aactccgtctgaaaagaaaag 0.443000 5 60 0 0 1 0 0 TBP 6908 broad.mit.edu 37 6 170871082 170871082 + Silent SNP G G A TCGA-G9-6347-01A-11D-A31L-08 TCGA-G9-6347-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 470a25cd-eea8-4ca6-b91c-86e36397135a b63236ea-caa8-44c1-ba56-d36c6c394c23 g.chr6:170871082G>A ENST00000392092.2 + 3 537 c.258G>A c.(256-258)caG>caA p.Q86Q TBP_ENST00000540980.1_Silent_p.Q66Q|TBP_ENST00000230354.6_Silent_p.Q86Q NM_003194.4 NP_003185.1 P20226 TBP_HUMAN TATA box binding protein 86 Poly-Gln. cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction transcription factor TFIIA complex|transcription factor TFIID complex repressing transcription factor binding|transcription regulatory region DNA binding p.Q86Q(2) breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1) 26 Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246) OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591) agcagcagcagcagcagcagc 0.612000 5 46 0 0 1 0 0 TTC18 118491 broad.mit.edu 37 10 75104854 75104854 + Missense_Mutation SNP A A G TCGA-G9-6347-01A-11D-A31L-08 TCGA-G9-6347-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 470a25cd-eea8-4ca6-b91c-86e36397135a b63236ea-caa8-44c1-ba56-d36c6c394c23 g.chr10:75104854A>G ENST00000401621.2 - 6 698 c.578T>C c.(577-579)aTg>aCg p.M193T TTC18_ENST00000394865.1_Missense_Mutation_p.M193T|TTC18_ENST00000340329.3_Missense_Mutation_p.M193T|TTC18_ENST00000493787.1_5'UTR|TTC18_ENST00000355577.3_5'UTR|TTC18_ENST00000310715.3_Missense_Mutation_p.M193T Q5T0N1 TTC18_HUMAN tetratricopeptide repeat domain 18 193 binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 Prostate(51;0.0119) CAGACCGACCATGTAGTTCTG 0.488000 22 247 0 0 1 0 0 CD200R1L 344807 broad.mit.edu 37 3 112546303 112546303 + Missense_Mutation SNP G G A TCGA-G9-6347-01A-11D-A31L-08 TCGA-G9-6347-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 470a25cd-eea8-4ca6-b91c-86e36397135a b63236ea-caa8-44c1-ba56-d36c6c394c23 g.chr3:112546303G>A ENST00000488794.1 - 5 867 c.278C>T c.(277-279)cCg>cTg p.P93L CD200R1L_ENST00000398214.1_Missense_Mutation_p.P114L|CD200R1L_ENST00000448932.1_Missense_Mutation_p.P93L Q6Q8B3 MO2R2_HUMAN CD200 receptor 1-like 114 Ig-like V-type. integral to membrane receptor activity breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|urinary_tract(2) 19 GGTGTCCACCGGACGAATCTG 0.453000 5 81 0 0 1 0 0 SLCO4A1 28231 broad.mit.edu 37 20 61288286 61288286 + Silent SNP C C T TCGA-G9-6347-01A-11D-A31L-08 TCGA-G9-6347-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 470a25cd-eea8-4ca6-b91c-86e36397135a b63236ea-caa8-44c1-ba56-d36c6c394c23 g.chr20:61288286C>T ENST00000217159.1 + 2 685 c.480C>T c.(478-480)gtC>gtT p.V160V SLCO4A1_ENST00000370507.1_Silent_p.V160V NM_016354.3 NP_057438.3 Q96BD0 SO4A1_HUMAN solute carrier organic anion transporter family, member 4A1 160 sodium-independent organic anion transport integral to membrane|plasma membrane thyroid hormone transmembrane transporter activity endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(3)|prostate(2) 21 Breast(26;3.65e-08) BRCA - Breast invasive adenocarcinoma(19;2.33e-06) TCACCTTCGTCAGCTACTTCG 0.667000 9 73 0 0 1 0 0 SF3B1 23451 broad.mit.edu 37 2 198265579 198265579 + Missense_Mutation SNP C C T TCGA-G9-6347-01A-11D-A31L-08 TCGA-G9-6347-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 470a25cd-eea8-4ca6-b91c-86e36397135a b63236ea-caa8-44c1-ba56-d36c6c394c23 g.chr2:198265579C>T ENST00000335508.5 - 18 2669 c.2578G>A c.(2578-2580)Gaa>Aaa p.E860K NM_012433.2 NP_036565.2 O75533 SF3B1_HUMAN splicing factor 3b, subunit 1, 155kDa 860 nuclear mRNA splicing, via spliceosome catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex protein binding NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 633 OV - Ovarian serous cystadenocarcinoma(117;0.246) TGTTCGGCTTCATCTTTCAGA 0.363000 Mis myelodysplastic syndrome 14 67 0 0 1 0 0 TMEM52 339456 broad.mit.edu 37 1 1850628 1850636 + In_Frame_Del DEL AGCGGCAGG AGCGGCAGG - TCGA-G9-6347-01A-11D-A31L-08 TCGA-G9-6347-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 470a25cd-eea8-4ca6-b91c-86e36397135a b63236ea-caa8-44c1-ba56-d36c6c394c23 g.chr1:1850628_1850636delAGCGGCAGG ENST00000310991.3 - 1 76_84 c.69_77delCCTGCCGCT c.(67-78)ctg>ct p.LLPL23del NM_178545.3 NP_848640.1 Q8NDY8 TMM52_HUMAN transmembrane protein 52 23 integral to membrane NS(1)|prostate(1)|stomach(1) 3 all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217) Epithelial(90;1.82e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.75e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199) CACCTgcggcagcggcaggagcggcagga 0.766 2 4 --- --- --- --- AC018890.6 0 broad.mit.edu 37 2 175585079 175585079 + RNA DEL A A - TCGA-G9-6347-01A-11D-A31L-08 TCGA-G9-6347-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 470a25cd-eea8-4ca6-b91c-86e36397135a b63236ea-caa8-44c1-ba56-d36c6c394c23 g.chr2:175585079delA ENST00000442996.1 + 0 217 TTTCATTCTCAAAAAAAAAAA 0.368 OREG0015078 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 9 --- --- --- --- SAMD9L 219285 broad.mit.edu 37 7 92760915 92760916 + Frame_Shift_Ins INS - - T TCGA-G9-6347-01A-11D-A31L-08 TCGA-G9-6347-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 470a25cd-eea8-4ca6-b91c-86e36397135a b63236ea-caa8-44c1-ba56-d36c6c394c23 g.chr7:92760915_92760916insT ENST00000318238.4 - 5 5585_5586 c.4369_4370insA c.(4369-4371)atcfs p.I1457fs SAMD9L_ENST00000411955.1_Frame_Shift_Ins_p.I1457fs|SAMD9L_ENST00000437805.1_Frame_Shift_Ins_p.I1457fs NM_152703.2 NP_689916.2 Q8IVG5 SAM9L_HUMAN sterile alpha motif domain containing 9-like 1457 central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 88 all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989) STAD - Stomach adenocarcinoma(171;0.000302) CCTGAAGGATCTATTTAAGGAT 0.436 9 173 --- --- --- --- CALD1 800 broad.mit.edu 37 7 134618474 134618476 + In_Frame_Del DEL GGA GGA - TCGA-G9-6347-01A-11D-A31L-08 TCGA-G9-6347-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 470a25cd-eea8-4ca6-b91c-86e36397135a b63236ea-caa8-44c1-ba56-d36c6c394c23 g.chr7:134618474_134618476delGGA ENST00000361675.2 + 5 1183_1185 c.954_956delGGA c.(952-957)agg>ag p.RE318del CALD1_ENST00000393118.2_Intron|CALD1_ENST00000361388.2_Intron|CALD1_ENST00000417172.1_Intron|CALD1_ENST00000495522.1_Intron|CALD1_ENST00000422748.1_Intron|CALD1_ENST00000424922.1_Intron|CALD1_ENST00000361901.2_Intron|CALD1_ENST00000543443.1_Intron Q05682 CALD1_HUMAN caldesmon 1 318 cellular component movement|muscle contraction cytosol|focal adhesion|myofibril actin binding|calmodulin binding|myosin binding|tropomyosin binding NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(15)|lung(10) 43 aaaggatgagggaggaagagaaa 0.483 3 5 --- --- --- ---