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 MYH13 8735 broad.mit.edu 37 17 10213033 10213033 + Missense_Mutation SNP T T C TCGA-DB-5277-01A-01D-1468-08 TCGA-DB-5277-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff5b06bf-99d6-4276-8646-b91ef5ed480e 54fcd6db-49a2-47d2-9086-3f7b89e39015 g.chr17:10213033T>C ENST00000418404.3 - 33 4934 c.4771A>G c.(4771-4773)Aaa>Gaa p.K1591E MYH13_ENST00000252172.4_Missense_Mutation_p.K1591E|MYH13_ENST00000570743.1_Missense_Mutation_p.K1591E Q9UKX3 MYH13_HUMAN myosin, heavy chain 13, skeletal muscle 1591 muscle contraction muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2) 108 CTGTTTCTTTTTAGCTGCTCG 0.562000 3 16 0 0 1 0 0 SRGAP1 57522 broad.mit.edu 37 12 64437269 64437269 + Missense_Mutation SNP G G A TCGA-DB-5277-01A-01D-1468-08 TCGA-DB-5277-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff5b06bf-99d6-4276-8646-b91ef5ed480e 54fcd6db-49a2-47d2-9086-3f7b89e39015 g.chr12:64437269G>A ENST00000355086.3 + 6 1239 c.715G>A c.(715-717)Gca>Aca p.A239T SRGAP1_ENST00000543397.1_Missense_Mutation_p.A199T|SRGAP1_ENST00000357825.3_Missense_Mutation_p.A239T|RP11-196H14.2_ENST00000535594.1_RNA NM_020762.2 NP_065813.1 Q7Z6B7 SRGP1_HUMAN SLIT-ROBO Rho GTPase activating protein 1 239 axon guidance cytosol breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 65 GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225) GBM - Glioblastoma multiforme(28;0.0608) ATCAATTAAGGCACGGAACGA 0.348000 42 9 0 0 1 0 0 NBPF1 55672 broad.mit.edu 37 1 16918653 16918653 + Splice_Site SNP C C T TCGA-DB-5277-01A-01D-1468-08 TCGA-DB-5277-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff5b06bf-99d6-4276-8646-b91ef5ed480e 54fcd6db-49a2-47d2-9086-3f7b89e39015 g.chr1:16918653C>T ENST00000430580.2 - 6 853 c.e6+1 NM_017940.3 NP_060410.2 Q3BBV0 NBPF1_HUMAN neuroblastoma breakpoint family, member 1 cytoplasm UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179) TCTTAACTTACTGTTGTGAAA 0.418000 3 83 0 0 1 0 0 ZC3H7A 29066 broad.mit.edu 37 16 11857362 11857362 + Silent SNP C C G TCGA-DB-5277-01A-01D-1468-08 TCGA-DB-5277-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff5b06bf-99d6-4276-8646-b91ef5ed480e 54fcd6db-49a2-47d2-9086-3f7b89e39015 g.chr16:11857362C>G ENST00000396516.2 - 15 2171 c.1974G>C c.(1972-1974)ctG>ctC p.L658L ZC3H7A_ENST00000355758.4_Silent_p.L658L Q8IWR0 Z3H7A_HUMAN zinc finger CCCH-type containing 7A 658 nucleus nucleic acid binding|zinc ion binding breast(2)|endometrium(3)|kidney(5)|large_intestine(2)|liver(1)|lung(3)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(2) 25 TCCAGACTTTCAGTTCCACAA 0.418000 5 197 0 0 1 0 0 FAM46C 54855 broad.mit.edu 37 1 118166247 118166247 + Missense_Mutation SNP C C T TCGA-DB-5277-01A-01D-1468-08 TCGA-DB-5277-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff5b06bf-99d6-4276-8646-b91ef5ed480e 54fcd6db-49a2-47d2-9086-3f7b89e39015 g.chr1:118166247C>T ENST00000369448.3 + 2 1004 c.757C>T c.(757-759)Cgg>Tgg p.R253W NM_017709.3 NP_060179.2 Q5VWP2 FA46C_HUMAN family with sequence similarity 46, member C 253 endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1) 15 Lung SC(450;0.225) all_cancers(81;0.000101)|all_lung(203;3.4e-06)|all_epithelial(167;4.98e-06)|Lung NSC(69;2.33e-05) Lung(183;0.0576)|LUSC - Lung squamous cell carcinoma(189;0.192)|Colorectal(144;0.247) CCTTCTTGTGCGGGACTTCAG 0.512000 """Mis, F, O""" MM Multiple Myeloma(3;1.13e-06) 4 94 0 0 1 0 0 SBSN 374897 broad.mit.edu 37 19 36015811 36015811 + Missense_Mutation SNP C C T TCGA-DB-5277-01A-01D-1468-08 TCGA-DB-5277-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff5b06bf-99d6-4276-8646-b91ef5ed480e 54fcd6db-49a2-47d2-9086-3f7b89e39015 g.chr19:36015811C>T ENST00000452271.2 - 2 1682 c.1654G>A c.(1654-1656)Gga>Aga p.G552R SBSN_ENST00000518157.1_Missense_Mutation_p.G209R NM_001166034.1 NP_001159506.1 Q6UWP8 SBSN_HUMAN suprabasin 209 extracellular region large_intestine(5)|lung(6)|ovary(1)|prostate(2) 14 all_lung(56;1.62e-08)|Lung NSC(56;2.47e-08)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0724) CTGGAAGATCCGCTTTGATGG 0.612000 8 24 0 0 1 0 0 NBAS 51594 broad.mit.edu 37 2 15555741 15555741 + Missense_Mutation SNP C C G TCGA-DB-5277-01A-01D-1468-08 TCGA-DB-5277-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff5b06bf-99d6-4276-8646-b91ef5ed480e 54fcd6db-49a2-47d2-9086-3f7b89e39015 g.chr2:15555741C>G ENST00000281513.5 - 25 2891 c.2866G>C c.(2866-2868)Gaa>Caa p.E956Q NBAS_ENST00000441750.1_Intron NM_015909.3 NP_056993.2 A2RRP1 NBAS_HUMAN neuroblastoma amplified sequence 956 NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3) 112 ACTAAATATTCTTTTAATAGC 0.368000 87 108 0 0 1 0 0 ANKHD1 54882 broad.mit.edu 37 5 139917069 139917069 + Nonsense_Mutation SNP C C T TCGA-DB-5277-01A-01D-1468-08 TCGA-DB-5277-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff5b06bf-99d6-4276-8646-b91ef5ed480e 54fcd6db-49a2-47d2-9086-3f7b89e39015 g.chr5:139917069C>T ENST00000297183.6 + 31 7247 c.7123C>T c.(7123-7125)Cga>Tga p.R2375* ANKHD1_ENST00000544120.1_Nonsense_Mutation_p.R699*|ANKHD1_ENST00000360839.2_Nonsense_Mutation_p.R2375*|ANKHD1-EIF4EBP3_ENST00000532219.1_Nonsense_Mutation_p.R2375* NM_020690.5 NP_065741.3 ankyrin repeat and KH domain containing 1 breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2) 60 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GAGACTGGCCCGAATTCGGCA 0.552000 54 7 0 0 1 0 0 HSD17B7P2 0 broad.mit.edu 37 10 38654432 38654432 + RNA SNP A A G rs2257765 TCGA-DB-5277-01A-01D-1468-08 TCGA-DB-5277-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff5b06bf-99d6-4276-8646-b91ef5ed480e 54fcd6db-49a2-47d2-9086-3f7b89e39015 g.chr10:38654432A>G ENST00000494540.1 + 0 599 NR_003086.1 TCATCTCGCAATGCAAGGAAA 0.453000 3 93 0 0 1 0 0 FLT1 2321 broad.mit.edu 37 13 29008225 29008225 + Missense_Mutation SNP A A G TCGA-DB-5277-01A-01D-1468-08 TCGA-DB-5277-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff5b06bf-99d6-4276-8646-b91ef5ed480e 54fcd6db-49a2-47d2-9086-3f7b89e39015 g.chr13:29008225A>G ENST00000282397.4 - 5 897 c.646T>C c.(646-648)Tat>Cat p.Y216H FLT1_ENST00000541932.1_Missense_Mutation_p.Y216H|FLT1_ENST00000539099.1_Missense_Mutation_p.Y216H NM_002019.4 NP_002010.2 P17948 VGFR1_HUMAN fms-related tyrosine kinase 1 216 cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway extracellular space|Golgi apparatus|integral to plasma membrane|nucleus ATP binding|growth factor binding|vascular endothelial growth factor receptor activity NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 115 Acute lymphoblastic leukemia(6;0.04) Lung SC(185;0.0262)|Breast(139;0.188) Colorectal(13;0.000674) all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207) Sunitinib(DB01268) TTTGTCTTATACAAATGCCCA 0.388000 3 139 0 0 1 0 0 TPBG 7162 broad.mit.edu 37 6 83075656 83075656 + Silent SNP G G A TCGA-DB-5277-01A-01D-1468-08 TCGA-DB-5277-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff5b06bf-99d6-4276-8646-b91ef5ed480e 54fcd6db-49a2-47d2-9086-3f7b89e39015 g.chr6:83075656G>A ENST00000369750.3 + 2 1595 c.978G>A c.(976-978)ccG>ccA p.P326P TPBG_ENST00000543496.1_Silent_p.P326P|TPBG_ENST00000535040.1_Silent_p.P326P Q13641 TPBG_HUMAN trophoblast glycoprotein 326 LRRCT. cell adhesion integral to plasma membrane central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1) 15 all_cancers(76;0.000805)|Acute lymphoblastic leukemia(125;3.85e-06)|all_hematologic(105;0.0017)|all_epithelial(107;0.0897) BRCA - Breast invasive adenocarcinoma(397;0.107) GTGCATATCCGGAAAAAATGA 0.542000 47 105 0 0 1 0 0 FLG 2312 broad.mit.edu 37 1 152278795 152278795 + Missense_Mutation SNP G G A TCGA-DB-5277-01A-01D-1468-08 TCGA-DB-5277-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff5b06bf-99d6-4276-8646-b91ef5ed480e 54fcd6db-49a2-47d2-9086-3f7b89e39015 g.chr1:152278795G>A ENST00000368799.1 - 3 8602 c.8567C>T c.(8566-8568)tCg>tTg p.S2856L FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 2856 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) ATGGTGACGCGACCCTGAGTG 0.577000 Ichthyosis 15 1160 0 0 1 0 0 LIPI 149998 broad.mit.edu 37 21 15561431 15561431 + Missense_Mutation SNP G G C TCGA-DB-5277-01A-01D-1468-08 TCGA-DB-5277-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff5b06bf-99d6-4276-8646-b91ef5ed480e 54fcd6db-49a2-47d2-9086-3f7b89e39015 g.chr21:15561431G>C ENST00000344577.2 - 2 444 c.419C>G c.(418-420)aCt>aGt p.T140S LIPI_ENST00000536861.1_Missense_Mutation_p.T119S NM_198996.2 NP_945347.1 Q6XZB0 LIPI_HUMAN lipase, member I 119 lipid catabolic process extracellular region|extracellular space|membrane|plasma membrane heparin binding|phospholipase activity endometrium(1)|kidney(13)|large_intestine(9)|liver(3)|lung(24)|ovary(3)|urinary_tract(1) 54 Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166) ATAAATAAAAGTTGTAGCACC 0.363000 52 66 0 0 1 0 0 SNRPB2 6629 broad.mit.edu 37 20 16712312 16712312 + Splice_Site SNP G G C TCGA-DB-5277-01A-01D-1468-08 TCGA-DB-5277-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff5b06bf-99d6-4276-8646-b91ef5ed480e 54fcd6db-49a2-47d2-9086-3f7b89e39015 g.chr20:16712312G>C ENST00000246071.6 + 2 181 c.e2-1 SNRPB2_ENST00000478522.1_Splice_Site|SNRPB2_ENST00000377943.5_Splice_Site NM_003092.4 NP_003083.1 P08579 RU2B_HUMAN small nuclear ribonucleoprotein polypeptide B catalytic step 2 spliceosome|nucleoplasm|U2 snRNP nucleotide binding|protein binding|RNA binding large_intestine(2)|lung(2)|urinary_tract(1) 5 TTTTATAACAGATTTTTTACT 0.303000 19 104 0 0 1 0 0 TMOD4 29765 broad.mit.edu 37 1 151146889 151146889 + Silent SNP C C G TCGA-DB-5277-01A-01D-1468-08 TCGA-DB-5277-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff5b06bf-99d6-4276-8646-b91ef5ed480e 54fcd6db-49a2-47d2-9086-3f7b89e39015 g.chr1:151146889C>G ENST00000416280.2 - 3 357 c.258G>C c.(256-258)gtG>gtC p.V86V Q9NZQ9 TMOD4_HUMAN tropomodulin 4 (muscle) 138 muscle contraction cytoplasm|cytoskeleton actin binding|tropomyosin binding endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|stomach(1) 7 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) CTGTGAAGGGCACCAAGTCAT 0.562000 5 344 0 0 1 0 0 TRIM68 55128 broad.mit.edu 37 11 4626616 4626616 + Missense_Mutation SNP A A G TCGA-DB-5277-01A-01D-1468-08 TCGA-DB-5277-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff5b06bf-99d6-4276-8646-b91ef5ed480e 54fcd6db-49a2-47d2-9086-3f7b89e39015 g.chr11:4626616A>G ENST00000300747.5 - 2 408 c.119T>C c.(118-120)cTc>cCc p.L40P NM_018073.6 NP_060543.5 Q6AZZ1 TRI68_HUMAN tripartite motif containing 68 40 protein autoubiquitination|regulation of androgen receptor signaling pathway Golgi apparatus|nucleolus|perinuclear region of cytoplasm androgen receptor binding|histone acetyltransferase binding|ubiquitin-protein ligase activity|zinc ion binding breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|urinary_tract(1) 15 Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227) Epithelial(150;9.49e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0288)|LUSC - Lung squamous cell carcinoma(625;0.192) GAGTCCAGAGAGACAGCTGTG 0.572000 46 21 0 0 1 0 0 TSIX 0 broad.mit.edu 37 X 73047524 73047524 + RNA SNP A A T TCGA-DB-5277-01A-01D-1468-08 TCGA-DB-5277-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff5b06bf-99d6-4276-8646-b91ef5ed480e 54fcd6db-49a2-47d2-9086-3f7b89e39015 g.chrX:73047524A>T ENST00000604411.1 + 0 35485 XIST_ENST00000429829.1_lincRNA NR_003255.2 GAGAAAGGAGAGGTAGACAGA 0.408000 9 5 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7577574 7577574 + Missense_Mutation SNP T T C TCGA-DB-5277-01A-01D-1468-08 TCGA-DB-5277-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff5b06bf-99d6-4276-8646-b91ef5ed480e 54fcd6db-49a2-47d2-9086-3f7b89e39015 g.chr17:7577574T>C ENST00000420246.2 - 7 839 c.707A>G c.(706-708)tAc>tGc p.Y236C TP53_ENST00000455263.2_Missense_Mutation_p.Y236C|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000445888.2_Missense_Mutation_p.Y236C|TP53_ENST00000413465.2_Missense_Mutation_p.Y236C|TP53_ENST00000269305.4_Missense_Mutation_p.Y236C|TP53_ENST00000359597.4_Missense_Mutation_p.Y236C NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 236 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.Y236C(61)|p.0?(8)|p.?(5)|p.Y143C(5)|p.Y236del(4)|p.Y236S(3)|p.Y236_M237delYM(1)|p.I232_Y236delIHYNY(1)|p.H233fs*6(1)|p.Y236_M243delYMCNSSCM(1)|p.V225fs*23(1)|p.Y236fs*4(1)|p.H233_C242del10(1)|p.N235_Y236delNY(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) GTTACACATGTAGTTGTAGTG 0.572000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 86 10 0 0 1 0 0 ELL3 80237 broad.mit.edu 37 15 44068328 44068328 + Missense_Mutation SNP C C T TCGA-DB-5277-01A-01D-1468-08 TCGA-DB-5277-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff5b06bf-99d6-4276-8646-b91ef5ed480e 54fcd6db-49a2-47d2-9086-3f7b89e39015 g.chr15:44068328C>T ENST00000319359.3 - 3 831 c.190G>A c.(190-192)Ggt>Agt p.G64S RP11-296A16.1_ENST00000417761.2_3'UTR NM_025165.2 NP_079441.1 Q9HB65 ELL3_HUMAN elongation factor RNA polymerase II-like 3 64 positive regulation of transcription elongation, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|spermatogenesis|transcription elongation from RNA polymerase II promoter transcription elongation factor complex cervix(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(1) 13 all_cancers(109;7.57e-15)|all_epithelial(112;3.51e-12)|Lung NSC(122;4.72e-08)|all_lung(180;4.9e-07)|Melanoma(134;0.027)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;7.81e-07) CAGGACCAACCAGGGCCTGGG 0.632000 31 42 0 0 1 0 0 LPO 0 broad.mit.edu 37 17 56344812 56344812 + Missense_Mutation SNP G G A TCGA-DB-5277-01A-01D-1468-08 TCGA-DB-5277-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff5b06bf-99d6-4276-8646-b91ef5ed480e 54fcd6db-49a2-47d2-9086-3f7b89e39015 g.chr17:56344812G>A ENST00000262290.4 + 12 2112 c.1796G>A c.(1795-1797)gGt>gAt p.G599D LPO_ENST00000543544.1_Missense_Mutation_p.G540D|LPO_ENST00000421678.2_Missense_Mutation_p.G516D|LPO_ENST00000582328.1_Missense_Mutation_p.G516D NM_006151.2 NP_006142.1 P22079 PERL_HUMAN lactoperoxidase 599 hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity breast(5)|cervix(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 30 AAGTTACTGGGTCTCTACGGG 0.572000 65 65 0 0 1 0 0 TRPV5 56302 broad.mit.edu 37 7 142626123 142626123 + Missense_Mutation SNP A A G TCGA-DB-5277-01A-01D-1468-08 TCGA-DB-5277-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff5b06bf-99d6-4276-8646-b91ef5ed480e 54fcd6db-49a2-47d2-9086-3f7b89e39015 g.chr7:142626123A>G ENST00000265310.1 - 5 928 c.580T>C c.(580-582)Tcc>Ccc p.S194P TRPV5_ENST00000442623.1_Missense_Mutation_p.S194P NM_019841.4 NP_062815.2 Q9NQA5 TRPV5_HUMAN transient receptor potential cation channel, subfamily V, member 5 194 protein tetramerization apical plasma membrane|integral to plasma membrane calcium channel activity NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 67 Melanoma(164;0.059) TTACCCAGGGAGTCCTGGGCC 0.612000 9 42 0 0 1 0 0 MROH2B 133558 broad.mit.edu 37 5 41045922 41045922 + Missense_Mutation SNP C C T TCGA-DB-5277-01A-01D-1468-08 TCGA-DB-5277-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff5b06bf-99d6-4276-8646-b91ef5ed480e 54fcd6db-49a2-47d2-9086-3f7b89e39015 g.chr5:41045922C>T ENST00000399564.4 - 18 2212 c.1762G>A c.(1762-1764)Gtg>Atg p.V588M MROH2B_ENST00000506092.2_Missense_Mutation_p.V143M NM_173489.4 NP_775760.3 maestro heat-like repeat family member 2B GTCCAGGCCACATCACTGATC 0.433000 35 235 0 0 1 0 0 CAPN11 11131 broad.mit.edu 37 6 44143869 44143869 + Missense_Mutation SNP C C G TCGA-DB-5277-01A-01D-1468-08 TCGA-DB-5277-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff5b06bf-99d6-4276-8646-b91ef5ed480e 54fcd6db-49a2-47d2-9086-3f7b89e39015 g.chr6:44143869C>G ENST00000398776.1 + 8 934 c.896C>G c.(895-897)tCt>tGt p.S299C CAPN11_ENST00000542245.1_Missense_Mutation_p.S299C NM_007058.3 NP_008989.2 Q9UMQ6 CAN11_HUMAN calpain 11 299 Calpain catalytic. proteolysis acrosomal vesicle calcium ion binding|calcium-dependent cysteine-type endopeptidase activity breast(3)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1) 36 all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) CACGCTTACTCTGTGACTGGC 0.542000 17 31 0 0 1 0 0 CDH17 1015 broad.mit.edu 37 8 95142932 95142932 + Missense_Mutation SNP G G A TCGA-DB-5277-01A-01D-1468-08 TCGA-DB-5277-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff5b06bf-99d6-4276-8646-b91ef5ed480e 54fcd6db-49a2-47d2-9086-3f7b89e39015 g.chr8:95142932G>A ENST00000027335.3 - 17 2444 c.2320C>T c.(2320-2322)Cgg>Tgg p.R774W CDH17_ENST00000441892.2_Intron|CDH17_ENST00000450165.2_Missense_Mutation_p.R774W NM_004063.3 NP_004054.3 Q12864 CAD17_HUMAN cadherin 17, LI cadherin (liver-intestine) 774 Cadherin 7. integral to membrane calcium ion binding p.R774W(1) NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2) 52 Breast(36;4.65e-06) BRCA - Breast invasive adenocarcinoma(8;0.00691) CCTGCTGGCCGGAAACAACTT 0.448000 30 119 0 0 1 0 0 MBD6 0 broad.mit.edu 37 12 57919602 57919602 + Missense_Mutation SNP C C T TCGA-DB-5277-01A-01D-1468-08 TCGA-DB-5277-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff5b06bf-99d6-4276-8646-b91ef5ed480e 54fcd6db-49a2-47d2-9086-3f7b89e39015 g.chr12:57919602C>T ENST00000355673.3 + 6 1207 c.851C>T c.(850-852)cCt>cTt p.P284L MBD6_ENST00000431731.2_Missense_Mutation_p.P284L NM_052897.3 NP_443129.3 Q96DN6 MBD6_HUMAN methyl-CpG binding domain protein 6 284 Pro-rich. chromosome|nucleus chromatin binding|DNA binding breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1) 31 CACCCTGGTCCTGCCTCTCAG 0.672000 7 22 0 0 1 0 0 MS4A7 58475 broad.mit.edu 37 11 60150653 60150653 + Silent SNP C C T TCGA-DB-5277-01A-01D-1468-08 TCGA-DB-5277-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff5b06bf-99d6-4276-8646-b91ef5ed480e 54fcd6db-49a2-47d2-9086-3f7b89e39015 g.chr11:60150653C>T ENST00000358246.1 + 2 232 c.39C>T c.(37-39)agC>agT p.S13S MS4A7_ENST00000530234.2_Silent_p.S13S|MS4A7_ENST00000300184.3_Silent_p.S13S|MS4A7_ENST00000534016.1_Silent_p.S13S|MS4A14_ENST00000531787.1_Intron NM_206938.1|NM_206940.1 NP_996821.1|NP_996823.1 Q9GZW8 MS4A7_HUMAN membrane-spanning 4-domains, subfamily A, member 7 13 integral to membrane receptor activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(8)|ovary(1)|skin(1) 20 TTTCTCACAGCTTTACACCAA 0.463000 5 79 0 0 1 0 0 IDH1 3417 broad.mit.edu 37 2 209113112 209113112 + Missense_Mutation SNP C C T rs121913500 TCGA-DB-5277-01A-01D-1468-08 TCGA-DB-5277-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff5b06bf-99d6-4276-8646-b91ef5ed480e 54fcd6db-49a2-47d2-9086-3f7b89e39015 g.chr2:209113112C>T ENST00000415913.1 - 4 776 c.395G>A c.(394-396)cGt>cAt p.R132H IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H O75874 IDHC_HUMAN isocitrate dehydrogenase 1 (NADP+), soluble 132 R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). 2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle cytosol|peroxisomal matrix isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1) NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1) 4887 Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136) ATAAGCATGACGACCTATGAT 0.393000 Mis gliobastoma 21 60 0 0 1 0 0 HTR1B 3351 broad.mit.edu 37 6 78172156 78172156 + Missense_Mutation SNP G G T TCGA-DB-5277-01A-01D-1468-08 TCGA-DB-5277-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff5b06bf-99d6-4276-8646-b91ef5ed480e 54fcd6db-49a2-47d2-9086-3f7b89e39015 g.chr6:78172156G>T ENST00000369947.2 - 1 1334 c.965C>A c.(964-966)gCc>gAc p.A322D NM_000863.1 NP_000854.1 P28222 5HT1B_HUMAN 5-hydroxytryptamine (serotonin) receptor 1B, G protein-coupled 322 G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cAMP biosynthetic process|synaptic transmission integral to plasma membrane protein binding|serotonin receptor activity NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|prostate(2)|upper_aerodigestive_tract(2) 25 all_cancers(76;0.0867)|Acute lymphoblastic leukemia(125;0.00119)|all_hematologic(105;0.0332) BRCA - Breast invasive adenocarcinoma(397;0.205) Almotriptan(DB00918)|Dexfenfluramine(DB01191)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Naratriptan(DB00952)|Pindolol(DB00960)|Propranolol(DB00571)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Venlafaxine(DB00285)|Zolmitriptan(DB00315) CACAATAAAGGCTCCCAAAAT 0.507000 103 119 1.22879e-52 1.31656e-52 1 1 0 NLRP3 114548 broad.mit.edu 37 1 247582222 247582222 + Silent SNP G G A TCGA-DB-5277-01A-01D-1468-08 TCGA-DB-5277-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff5b06bf-99d6-4276-8646-b91ef5ed480e 54fcd6db-49a2-47d2-9086-3f7b89e39015 g.chr1:247582222G>A ENST00000366497.2 + 2 906 c.126G>A c.(124-126)ccG>ccA p.P42P NLRP3_ENST00000366496.2_Silent_p.P42P|NLRP3_ENST00000348069.2_Silent_p.P42P|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000391828.3_Silent_p.P42P|NLRP3_ENST00000391827.2_Silent_p.P42P|NLRP3_ENST00000336119.3_Silent_p.P42P NM_001127461.2 NP_001120933.1 Q96P20 NALP3_HUMAN NLR family, pyrin domain containing 3 42 DAPIN. detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction cytoplasm ATP binding|peptidoglycan binding|protein binding NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 142 all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.0172) OV - Ovarian serous cystadenocarcinoma(106;0.0141) TCCCCCTCCCGAGGGGTCAGA 0.562000 34 52 0 0 1 0 0 MATK 4145 broad.mit.edu 37 19 3784173 3784173 + Missense_Mutation SNP G G A TCGA-DB-5277-01A-01D-1468-08 TCGA-DB-5277-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff5b06bf-99d6-4276-8646-b91ef5ed480e 54fcd6db-49a2-47d2-9086-3f7b89e39015 g.chr19:3784173G>A ENST00000310132.6 - 5 709 c.311C>T c.(310-312)gCg>gTg p.A104V MATK_ENST00000395045.2_Missense_Mutation_p.A105V|MATK_ENST00000395040.2_Missense_Mutation_p.A63V|MATK_ENST00000585778.1_Missense_Mutation_p.A104V NM_139355.2 NP_647612.1 P42679 MATK_HUMAN megakaryocyte-associated tyrosine kinase 104 SH3. cell proliferation|mesoderm development|positive regulation of cell proliferation cytoplasm|nucleus ATP binding|non-membrane spanning protein tyrosine kinase activity central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1) 26 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18) CTCCCGCAGCGCCCCAGCTGC 0.682000 21 21 0 0 1 0 0 IPO4 79711 broad.mit.edu 37 14 24652223 24652223 + Missense_Mutation SNP C C A TCGA-DB-5277-01A-01D-1468-08 TCGA-DB-5277-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff5b06bf-99d6-4276-8646-b91ef5ed480e 54fcd6db-49a2-47d2-9086-3f7b89e39015 g.chr14:24652223C>A ENST00000354464.6 - 23 2556 c.2380G>T c.(2380-2382)Gct>Tct p.A794S RP11-468E2.2_ENST00000561419.1_3'UTR NM_024658.3 NP_078934.3 Q8TEX9 IPO4_HUMAN importin 4 794 intracellular protein transport cytoplasm|nucleus protein binding|protein transporter activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|stomach(2)|urinary_tract(1) 33 GBM - Glioblastoma multiforme(265;0.0087) CAGAGCTCAGCGAGGCGCCCA 0.687000 4 117 1 1 1 1 0 PTPRR 5801 broad.mit.edu 37 12 71286551 71286551 + Missense_Mutation SNP C C T TCGA-DB-5277-01A-01D-1468-08 TCGA-DB-5277-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff5b06bf-99d6-4276-8646-b91ef5ed480e 54fcd6db-49a2-47d2-9086-3f7b89e39015 g.chr12:71286551C>T ENST00000283228.2 - 2 717 c.265G>A c.(265-267)Gca>Aca p.A89T NM_002849.3 NP_002840.2 Q15256 PTPRR_HUMAN protein tyrosine phosphatase, receptor type, R 89 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) GGGTCATATGCGGGTCTAGGA 0.453000 4 140 0 0 1 0 0 TUBBP5 0 broad.mit.edu 37 9 141070687 141070687 + RNA SNP C C T TCGA-DB-5277-01A-01D-1468-08 TCGA-DB-5277-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff5b06bf-99d6-4276-8646-b91ef5ed480e 54fcd6db-49a2-47d2-9086-3f7b89e39015 g.chr9:141070687C>T ENST00000503395.1 + 0 1462 ACAACTGGGCCAAGGGACGCT 0.577000 4 5 0 0 1 0 0 MOCOS 55034 broad.mit.edu 37 18 33785151 33785151 + Missense_Mutation SNP A A T TCGA-DB-5277-01A-01D-1468-08 TCGA-DB-5277-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff5b06bf-99d6-4276-8646-b91ef5ed480e 54fcd6db-49a2-47d2-9086-3f7b89e39015 g.chr18:33785151A>T ENST00000261326.5 + 6 1151 c.1130A>T c.(1129-1131)gAt>gTt p.D377V NM_017947.2 NP_060417.2 Q96EN8 MOCOS_HUMAN molybdenum cofactor sulfurase 377 Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process cytosol lyase activity|Mo-molybdopterin cofactor sulfurase activity|molybdenum ion binding|pyridoxal phosphate binding breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|liver(1)|lung(15)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 Pyridoxal Phosphate(DB00114) ATTTACAGCGATTCTGAGTTC 0.498000 6 182 0 0 1 0 0 VIT 5212 broad.mit.edu 37 2 37035632 37035632 + Silent SNP C C T TCGA-DB-5277-01A-01D-1468-08 TCGA-DB-5277-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff5b06bf-99d6-4276-8646-b91ef5ed480e 54fcd6db-49a2-47d2-9086-3f7b89e39015 g.chr2:37035632C>T ENST00000379242.3 + 15 1709 c.1407C>T c.(1405-1407)aaC>aaT p.N469N VIT_ENST00000401530.1_Silent_p.N433N|VIT_ENST00000389975.3_Silent_p.N454N|VIT_ENST00000497382.1_Silent_p.N123N|VIT_ENST00000379241.3_Silent_p.N432N|VIT_ENST00000404084.1_Silent_p.N406N NM_053276.3 NP_444506.2 Q6UXI7 VITRN_HUMAN vitrin 454 VWFA 1. proteinaceous extracellular matrix autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 57 all_hematologic(82;0.248) GCAGAACAAACGGCTTCTACT 0.622000 24 51 0 0 1 0 0 HIST1H4C 8364 broad.mit.edu 37 6 26104189 26104189 + Missense_Mutation SNP G G A TCGA-DB-5277-01A-01D-1468-08 TCGA-DB-5277-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff5b06bf-99d6-4276-8646-b91ef5ed480e 54fcd6db-49a2-47d2-9086-3f7b89e39015 g.chr6:26104189G>A ENST00000377803.2 + 1 86 c.14G>A c.(13-15)gGc>gAc p.G5D NM_003542.3 NP_003533.1 P62805 H4_HUMAN histone cluster 1, H4c 5 CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance nucleoplasm|nucleosome DNA binding|protein binding central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(1) 7 TCTGGTCGCGGCAAAGGCGGA 0.502000 3 102 0 0 1 0 0 NUMA1 0 broad.mit.edu 37 11 71720101 71720101 + Missense_Mutation SNP T T C TCGA-DB-5277-01A-01D-1468-08 TCGA-DB-5277-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff5b06bf-99d6-4276-8646-b91ef5ed480e 54fcd6db-49a2-47d2-9086-3f7b89e39015 g.chr11:71720101T>C ENST00000393695.3 - 19 5301 c.4970A>G c.(4969-4971)cAt>cGt p.H1657R NUMA1_ENST00000358965.6_Missense_Mutation_p.H1643R|NUMA1_ENST00000351960.6_Missense_Mutation_p.H521R NM_006185.2 NP_006176.2 Q14980 NUMA1_HUMAN nuclear mitotic apparatus protein 1 1657 G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole protein binding|structural molecule activity central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 65 CTGTAGCTCATGGCCCAGCCG 0.592000 T RARA APL 26 43 0 0 1 0 0 MPO 4353 broad.mit.edu 37 17 56355208 56355208 + Missense_Mutation SNP C C T TCGA-DB-5277-01A-01D-1468-08 TCGA-DB-5277-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff5b06bf-99d6-4276-8646-b91ef5ed480e 54fcd6db-49a2-47d2-9086-3f7b89e39015 g.chr17:56355208C>T ENST00000340482.3 - 6 1456 c.1280G>A c.(1279-1281)cGc>cAc p.R427H MPO_ENST00000578493.1_5'UTR|MPO_ENST00000225275.3_Missense_Mutation_p.R395H P05164 PERM_HUMAN myeloperoxidase 395 anti-apoptosis|hydrogen peroxide catabolic process|low-density lipoprotein particle remodeling extracellular space|lysosome|nucleus|stored secretory granule chromatin binding|heme binding|heparin binding|peroxidase activity breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4) 46 Cefdinir(DB00535) GCAGGGGATGCGCGCTGAGCG 0.617000 5 90 0 0 1 0 0 KIAA1841 84542 broad.mit.edu 37 2 61315601 61315601 + Silent SNP A A C TCGA-DB-5277-01A-01D-1468-08 TCGA-DB-5277-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff5b06bf-99d6-4276-8646-b91ef5ed480e 54fcd6db-49a2-47d2-9086-3f7b89e39015 g.chr2:61315601A>C ENST00000402291.1 + 10 1327 c.1086A>C c.(1084-1086)atA>atC p.I362I KIAA1841_ENST00000482513.1_3'UTR|KIAA1841_ENST00000453873.1_Silent_p.I362I|KIAA1841_ENST00000295031.5_Silent_p.I362I|KIAA1841_ENST00000356719.2_Silent_p.I362I NM_001129993.1 NP_001123465.1 Q6NSI8 K1841_HUMAN KIAA1841 362 breast(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1) 25 Epithelial(17;0.193) ATATTCACATAAGGTGTCGTG 0.328000 35 26 0 0 1 0 0 CHST15 51363 broad.mit.edu 37 10 125801890 125801890 + Silent SNP G G A rs150036804 TCGA-DB-5277-01A-01D-1468-08 TCGA-DB-5277-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff5b06bf-99d6-4276-8646-b91ef5ed480e 54fcd6db-49a2-47d2-9086-3f7b89e39015 g.chr10:125801890G>A ENST00000346248.5 - 4 1602 c.960C>T c.(958-960)gcC>gcT p.A320A CHST15_ENST00000421115.1_Silent_p.A320A|CHST15_ENST00000435907.1_Silent_p.A320A NM_001270764.1|NM_015892.3 NP_001257693.1|NP_056976.2 Q7LFX5 CHSTF_HUMAN carbohydrate (N-acetylgalactosamine 4-sulfate 6-O) sulfotransferase 15 320 hexose biosynthetic process Golgi membrane|integral to membrane 3'-phosphoadenosine 5'-phosphosulfate binding|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity endometrium(4)|kidney(1)|large_intestine(11)|lung(6)|ovary(3)|stomach(1) 26 TCTGGTGTGCGGCCAGGTCAA 0.527000 4 78 0 0 1 0 0 RFTN2 130132 broad.mit.edu 37 2 198436793 198436793 + Missense_Mutation SNP C C A TCGA-DB-5277-01A-01D-1468-08 TCGA-DB-5277-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff5b06bf-99d6-4276-8646-b91ef5ed480e 54fcd6db-49a2-47d2-9086-3f7b89e39015 g.chr2:198436793C>A ENST00000295049.3 - 9 1981 c.1445G>T c.(1444-1446)cGg>cTg p.R482L NM_144629.2 NP_653230.2 Q52LD8 RFTN2_HUMAN raftlin family member 2 482 plasma membrane NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(13)|urinary_tract(3) 30 GTCTAATTCCCGGAGGACGTT 0.532000 3 97 1 1 1 1 0 PHF1 5252 broad.mit.edu 37 6 33383710 33383710 + Silent SNP C C A TCGA-DB-5277-01A-01D-1468-08 TCGA-DB-5277-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff5b06bf-99d6-4276-8646-b91ef5ed480e 54fcd6db-49a2-47d2-9086-3f7b89e39015 g.chr6:33383710C>A ENST00000374516.3 + 15 1810 c.1539C>A c.(1537-1539)ccC>ccA p.P513P PHF1_ENST00000374512.3_3'UTR NM_024165.2 NP_077084.1 O43189 PHF1_HUMAN PHD finger protein 1 513 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) GCTCAGCACCCCCTTCTCCCC 0.607000 5 218 0.0215528 0.022296 1 1 0 CIB3 117286 broad.mit.edu 37 19 16280488 16280488 + Missense_Mutation SNP C C T TCGA-DB-5277-01A-01D-1468-08 TCGA-DB-5277-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff5b06bf-99d6-4276-8646-b91ef5ed480e 54fcd6db-49a2-47d2-9086-3f7b89e39015 g.chr19:16280488C>T ENST00000269878.4 - 3 200 c.151G>A c.(151-153)Gat>Aat p.D51N CIB3_ENST00000379859.3_Intron|CIB3_ENST00000541493.1_Intron NM_054113.2 NP_473454.1 Q96Q77 CIB3_HUMAN calcium and integrin binding family member 3 51 calcium ion binding p.D51N(1) cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(2) 16 ACCTTCACATCGGGGCAGGTG 0.562000 5 83 0 0 1 0 0 NCOR1 9611 broad.mit.edu 37 17 15974805 15974805 + Missense_Mutation SNP T T C TCGA-DB-5277-01A-01D-1468-08 TCGA-DB-5277-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff5b06bf-99d6-4276-8646-b91ef5ed480e 54fcd6db-49a2-47d2-9086-3f7b89e39015 g.chr17:15974805T>C ENST00000268712.3 - 30 4327 c.4070A>G c.(4069-4071)cAa>cGa p.Q1357R NCOR1_ENST00000395857.3_Intron|NCOR1_ENST00000395851.1_Missense_Mutation_p.Q1373R NM_006311.3 NP_006302.2 O75376 NCOR1_HUMAN nuclear receptor corepressor 1 1357 Interaction with ETO. cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter nuclear chromatin|spindle microtubule|transcriptional repressor complex histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10) 107 UCEC - Uterine corpus endometrioid carcinoma (92;0.101) TAAAATATCTTGCCTTGGAAT 0.453000 253 49 0 0 1 0 0 KRTAP1-5 83895 broad.mit.edu 37 17 39183145 39183145 + Missense_Mutation SNP A A G TCGA-DB-5277-01A-01D-1468-08 TCGA-DB-5277-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff5b06bf-99d6-4276-8646-b91ef5ed480e 54fcd6db-49a2-47d2-9086-3f7b89e39015 g.chr17:39183145A>G ENST00000361883.5 - 1 309 c.263T>C c.(262-264)aTc>aCc p.I88T NM_031957.1 NP_114163.1 Q9BYS1 KRA15_HUMAN keratin associated protein 1-5 88 15 X 5 AA repeats of C-C-[QEPVRC]- [TPIVLE]-[SRHVP]. keratin filament p.I88T(11) central_nervous_system(1)|endometrium(2)|kidney(1)|lung(9)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2) 17 Breast(137;0.00043) STAD - Stomach adenocarcinoma(17;0.000371) GCAGGAGCTGATCTGGCAGCA 0.632000 3 35 0 0 1 0 0 DIP2A 23181 broad.mit.edu 37 21 47978201 47978201 + Silent SNP T T C TCGA-DB-5277-01A-01D-1468-08 TCGA-DB-5277-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff5b06bf-99d6-4276-8646-b91ef5ed480e 54fcd6db-49a2-47d2-9086-3f7b89e39015 g.chr21:47978201T>C ENST00000318711.7 + 32 4050 c.3867T>C c.(3865-3867)atT>atC p.I1289I DIP2A_ENST00000417564.2_Silent_p.I1288I|DIP2A_ENST00000400274.1_Silent_p.I1284I NM_001146116.1|NM_015151.3 NP_001139588.1|NP_055966.2 Q14689 DIP2A_HUMAN DIP2 disco-interacting protein 2 homolog A (Drosophila) 1288 multicellular organismal development nucleus catalytic activity|transcription factor binding cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 Breast(49;0.0933) Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824) GGCCCAGGATTGCGCTGACCC 0.667000 6 22 0 0 1 0 0 ACLY 47 broad.mit.edu 37 17 40030158 40030158 + Nonsense_Mutation SNP G G A TCGA-DB-5277-01A-01D-1468-08 TCGA-DB-5277-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff5b06bf-99d6-4276-8646-b91ef5ed480e 54fcd6db-49a2-47d2-9086-3f7b89e39015 g.chr17:40030158G>A ENST00000352035.2 - 23 2678 c.2548C>T c.(2548-2550)Cag>Tag p.Q850* ACLY_ENST00000353196.1_Nonsense_Mutation_p.Q840*|ACLY_ENST00000590151.1_Nonsense_Mutation_p.Q850*|ACLY_ENST00000537919.1_Nonsense_Mutation_p.Q579*|ACLY_ENST00000393896.2_Nonsense_Mutation_p.Q840* NM_001096.2 NP_001087.2 P53396 ACLY_HUMAN ATP citrate lyase 850 ATP catabolic process|cellular carbohydrate metabolic process|citrate metabolic process|coenzyme A metabolic process|energy reserve metabolic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process citrate lyase complex|cytosol|nucleus ATP binding|ATP citrate synthase activity|citrate (pro-3S)-lyase activity|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity NTN1/ACLY(2) breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 28 Breast(137;0.000143) ATGAGCTCCTGTCCTCGCTCA 0.592000 22 89 0 0 1 0 0 FBN1 2200 broad.mit.edu 37 15 48729544 48729544 + Silent SNP G G T rs112989722 TCGA-DB-5277-01A-01D-1468-08 TCGA-DB-5277-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff5b06bf-99d6-4276-8646-b91ef5ed480e 54fcd6db-49a2-47d2-9086-3f7b89e39015 g.chr15:48729544G>T ENST00000316623.5 - 52 6809 c.6354C>A c.(6352-6354)atC>atA p.I2118I NM_000138.4 NP_000129.3 P35555 FBN1_HUMAN fibrillin 1 2118 heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development basement membrane|extracellular space|microfibril calcium ion binding|extracellular matrix structural constituent|protein binding NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 139 all_lung(180;0.00279) all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05) CAGGTCCCACGATGATCCCAC 0.423000 32 9 4.3181e-19 4.5721e-19 1 1 0 IGKV3D-20 0 broad.mit.edu 37 2 90077808 90077808 + RNA SNP T T A TCGA-DB-5277-01A-01D-1468-08 TCGA-DB-5277-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff5b06bf-99d6-4276-8646-b91ef5ed480e 54fcd6db-49a2-47d2-9086-3f7b89e39015 g.chr2:90077808T>A ENST00000390270.2 + 0 129 CTCTTCCTCCTGCTACTCTGG 0.537000 4 184 0 0 1 0 0 ATP10B 23120 broad.mit.edu 37 5 160047926 160047926 + Missense_Mutation SNP C C T TCGA-DB-5277-01A-01D-1468-08 TCGA-DB-5277-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff5b06bf-99d6-4276-8646-b91ef5ed480e 54fcd6db-49a2-47d2-9086-3f7b89e39015 g.chr5:160047926C>T ENST00000327245.5 - 15 2690 c.1844G>A c.(1843-1845)gGg>gAg p.G615E CTC-348L5.1_ENST00000523598.1_RNA NM_025153.2 NP_079429.2 O94823 AT10B_HUMAN ATPase, class V, type 10B 615 ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1) 75 Renal(175;0.00196) Medulloblastoma(196;0.0377)|all_neural(177;0.121) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) CAGGGACGTCCCCAGAGCCTT 0.488000 6 216 0 0 1 0 0 CDH4 1002 broad.mit.edu 37 20 60419770 60419770 + Missense_Mutation SNP C C A TCGA-DB-5277-01A-01D-1468-08 TCGA-DB-5277-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff5b06bf-99d6-4276-8646-b91ef5ed480e 54fcd6db-49a2-47d2-9086-3f7b89e39015 g.chr20:60419770C>A ENST00000360469.5 + 5 711 c.623C>A c.(622-624)aCg>aAg p.T208K CDH4_ENST00000543233.1_Missense_Mutation_p.T134K NM_001794.3 NP_001785.2 P55283 CADH4_HUMAN cadherin 4, type 1, R-cadherin (retinal) 208 Cadherin 1. adherens junction organization|cell junction assembly calcium ion binding p.T208M(1) NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 74 BRCA - Breast invasive adenocarcinoma(19;2.36e-08) TACAGCATCACGGGAGTGGGC 0.612000 3 131 1 1 1 1 0 ADAM23 8745 broad.mit.edu 37 2 207310230 207310230 + Missense_Mutation SNP C C G TCGA-DB-5277-01A-01D-1468-08 TCGA-DB-5277-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff5b06bf-99d6-4276-8646-b91ef5ed480e 54fcd6db-49a2-47d2-9086-3f7b89e39015 g.chr2:207310230C>G ENST00000264377.3 + 2 742 c.414C>G c.(412-414)caC>caG p.H138Q ADAM23_ENST00000374416.1_Missense_Mutation_p.H138Q|ADAM23_ENST00000374415.3_Missense_Mutation_p.H138Q NM_003812.2 NP_003803.1 O75077 ADA23_HUMAN ADAM metallopeptidase domain 23 138 cell adhesion|central nervous system development|proteolysis extracellular region|integral to plasma membrane integrin binding|metalloendopeptidase activity|zinc ion binding NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1) 51 LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205) AGGCAAGACACCAGCAAAAAC 0.398000 44 100 0 0 1 0 0 HSPG2 3339 broad.mit.edu 37 1 22166420 22166420 + Missense_Mutation SNP C C T TCGA-DB-5277-01A-01D-1468-08 TCGA-DB-5277-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff5b06bf-99d6-4276-8646-b91ef5ed480e 54fcd6db-49a2-47d2-9086-3f7b89e39015 g.chr1:22166420C>T ENST00000374695.3 - 72 9683 c.9604G>A c.(9604-9606)Gtg>Atg p.V3202M NM_005529.5 NP_005520.4 P98160 PGBM_HUMAN heparan sulfate proteoglycan 2 3202 Ig-like C2-type 17. angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process basement membrane|extracellular space|plasma membrane protein C-terminus binding breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3) 127 Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223) Becaplermin(DB00102)|Palifermin(DB00039) CCCGTGTCCACGATCACCTCC 0.587000 112 181 0 0 1 0 0 SPEF2 79925 broad.mit.edu 37 5 35709170 35709170 + Missense_Mutation SNP A A G TCGA-DB-5277-01A-01D-1468-08 TCGA-DB-5277-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff5b06bf-99d6-4276-8646-b91ef5ed480e 54fcd6db-49a2-47d2-9086-3f7b89e39015 g.chr5:35709170A>G ENST00000440995.2 + 19 2771 c.2771A>G c.(2770-2772)cAt>cGt p.H924R SPEF2_ENST00000509059.1_Missense_Mutation_p.H924R|SPEF2_ENST00000356031.3_Missense_Mutation_p.H929R|CTD-2113L7.1_ENST00000510433.1_RNA Q9C093 SPEF2_HUMAN sperm flagellar 2 929 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 37 all_lung(31;7.56e-05) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) AAGGAAATTCATCAAAGCCAT 0.418000 21 145 0 0 1 0 0 RRN3P2 0 broad.mit.edu 37 16 29110458 29110458 + RNA SNP T T C rs151074589 by1000genomes TCGA-DB-5277-01A-01D-1468-08 TCGA-DB-5277-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff5b06bf-99d6-4276-8646-b91ef5ed480e 54fcd6db-49a2-47d2-9086-3f7b89e39015 g.chr16:29110458T>C ENST00000564580.1 + 0 1131 p.W375R(25) GAATTTTGAGTGGATAGTGAT 0.328000 6 82 0 0 1 0 0 SH3TC2 79628 broad.mit.edu 37 5 148407828 148407828 + Silent SNP G G A TCGA-DB-5277-01A-01D-1468-08 TCGA-DB-5277-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff5b06bf-99d6-4276-8646-b91ef5ed480e 54fcd6db-49a2-47d2-9086-3f7b89e39015 g.chr5:148407828G>A ENST00000538184.1 - 7 996 c.108C>T c.(106-108)ttC>ttT p.F36F SH3TC2_ENST00000512049.1_Silent_p.F482F|SH3TC2_ENST00000394358.2_Silent_p.F374F|SH3TC2_ENST00000515425.1_Silent_p.F489F Q8TF17 S3TC2_HUMAN SH3 domain and tetratricopeptide repeats 2 489 binding breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 39 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AAGAGAAGGAGAAGTCATAGA 0.483000 4 133 0 0 1 0 0 COL4A6 1288 broad.mit.edu 37 X 107454952 107454952 + Missense_Mutation SNP C C T TCGA-DB-5277-01A-01D-1468-08 TCGA-DB-5277-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff5b06bf-99d6-4276-8646-b91ef5ed480e 54fcd6db-49a2-47d2-9086-3f7b89e39015 g.chrX:107454952C>T ENST00000334504.7 - 7 693 c.460G>A c.(460-462)Gga>Aga p.G154R COL4A6_ENST00000372216.4_Missense_Mutation_p.G155R|COL4A6_ENST00000538570.1_Missense_Mutation_p.G154R|COL4A6_ENST00000394872.2_Missense_Mutation_p.G153R|COL4A6_ENST00000545689.1_Missense_Mutation_p.G154R NM_033641.2 NP_378667.1 Q14031 CO4A6_HUMAN collagen, type IV, alpha 6 155 Triple-helical region. cell adhesion|extracellular matrix organization collagen type IV extracellular matrix structural constituent|protein binding breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2) 92 CCTTTTGATCCTTTCTGACCA 0.403000 Alport syndrome with Diffuse Leiomyomatosis 4 97 0 0 1 0 0 TTLL5 23093 broad.mit.edu 37 14 76241856 76241856 + Silent SNP A A G TCGA-DB-5277-01A-01D-1468-08 TCGA-DB-5277-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff5b06bf-99d6-4276-8646-b91ef5ed480e 54fcd6db-49a2-47d2-9086-3f7b89e39015 g.chr14:76241856A>G ENST00000298832.9 + 22 2371 c.2166A>G c.(2164-2166)gcA>gcG p.A722A TTLL5_ENST00000555422.1_3'UTR|TTLL5_ENST00000554510.1_Silent_p.A231A|TTLL5_ENST00000557636.1_Silent_p.A736A|TTLL5_ENST00000556893.1_Silent_p.A273A NM_015072.4 NP_055887.3 Q6EMB2 TTLL5_HUMAN tubulin tyrosine ligase-like family, member 5 722 protein modification process|transcription, DNA-dependent centrosome|cilium|microtubule basal body|nucleus tubulin-tyrosine ligase activity NS(2)|breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(3)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2) 50 BRCA - Breast invasive adenocarcinoma(234;0.029) TCAAGCGAGCATCAAATAACC 0.463000 130 175 0 0 1 0 0 GPR149 344758 broad.mit.edu 37 3 154145322 154145322 + Missense_Mutation SNP G G A TCGA-DB-5277-01A-01D-1468-08 TCGA-DB-5277-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff5b06bf-99d6-4276-8646-b91ef5ed480e 54fcd6db-49a2-47d2-9086-3f7b89e39015 g.chr3:154145322G>A ENST00000389740.2 - 2 1256 c.1157C>T c.(1156-1158)gCg>gTg p.A386V NM_001038705.1 NP_001033794.1 Q86SP6 GP149_HUMAN G protein-coupled receptor 149 386 integral to membrane|plasma membrane G-protein coupled receptor activity autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2) 47 LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173) CCCATCGGACGCCACTGCATA 0.488000 37 6 0 0 1 0 0 ZNF343 79175 broad.mit.edu 37 20 2464637 2464637 + Missense_Mutation SNP G G C TCGA-DB-5277-01A-01D-1468-08 TCGA-DB-5277-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff5b06bf-99d6-4276-8646-b91ef5ed480e 54fcd6db-49a2-47d2-9086-3f7b89e39015 g.chr20:2464637G>C ENST00000278772.4 - 6 1457 c.970C>G c.(970-972)Cct>Gct p.P324A RP4-734P14.4_ENST00000461548.1_Intron NM_024325.4 NP_077301.4 Q6P1L6 ZN343_HUMAN zinc finger protein 343 324 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|skin(4)|upper_aerodigestive_tract(1) 25 CACAAATAAGGCTTCTCTTCT 0.493000 16 51 0 0 1 0 0 RPAP3 79657 broad.mit.edu 37 12 48096531 48096531 + Nonsense_Mutation SNP C C T TCGA-DB-5277-01A-01D-1468-08 TCGA-DB-5277-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff5b06bf-99d6-4276-8646-b91ef5ed480e 54fcd6db-49a2-47d2-9086-3f7b89e39015 g.chr12:48096531C>T ENST00000005386.3 - 2 208 c.93G>A c.(91-93)tgG>tgA p.W31* RPAP3_ENST00000432584.3_Intron|RPAP3_ENST00000380650.4_Nonsense_Mutation_p.W31* NM_024604.2 NP_078880.2 Q9H6T3 RPAP3_HUMAN RNA polymerase II associated protein 3 31 binding endometrium(2)|large_intestine(4)|liver(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 16 Lung SC(27;0.192) TGTCTTTTTCCCAGTTTTCTA 0.323000 8 41 0 0 1 0 0 GGT1 2678 broad.mit.edu 37 22 25011062 25011062 + Missense_Mutation SNP C C G rs138472970 by1000genomes TCGA-DB-5277-01A-01D-1468-08 TCGA-DB-5277-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff5b06bf-99d6-4276-8646-b91ef5ed480e 54fcd6db-49a2-47d2-9086-3f7b89e39015 g.chr22:25011062C>G ENST00000400382.1 + 7 1105 c.350C>G c.(349-351)aCc>aGc p.T117S GGT1_ENST00000400383.1_Missense_Mutation_p.T117S|GGT1_ENST00000248923.4_Missense_Mutation_p.T117S|GGT1_ENST00000400380.1_Missense_Mutation_p.T117S|GGT1_ENST00000406383.2_Missense_Mutation_p.T117S P19440 GGT1_HUMAN gamma-glutamyltransferase 1 117 glutathione biosynthetic process integral to membrane acyltransferase activity|gamma-glutamyltransferase activity|protein binding p.T117S(8) breast(1)|endometrium(2)|kidney(14)|large_intestine(2)|lung(6)|pancreas(1)|prostate(6)|skin(7)|upper_aerodigestive_tract(1) 40 Glutathione(DB00143) GCCTTTGCCACCATGTTCAAC 0.637000 2 40 0 0 1 0 0 NAP1L1 4673 broad.mit.edu 37 12 76453623 76453623 + Silent SNP C C T TCGA-DB-5277-01A-01D-1468-08 TCGA-DB-5277-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff5b06bf-99d6-4276-8646-b91ef5ed480e 54fcd6db-49a2-47d2-9086-3f7b89e39015 g.chr12:76453623C>T ENST00000261182.8 - 6 870 c.384G>A c.(382-384)acG>acA p.T128T NAP1L1_ENST00000393263.3_Silent_p.T128T|NAP1L1_ENST00000549596.1_Silent_p.T128T|NAP1L1_ENST00000535020.2_Silent_p.T128T|NAP1L1_ENST00000548044.1_Silent_p.T87T|NAP1L1_ENST00000547773.1_Silent_p.T65T|NAP1L1_ENST00000542344.1_Silent_p.T87T|NAP1L1_ENST00000544816.1_5'UTR|NAP1L1_ENST00000431879.3_Intron|NAP1L1_ENST00000552342.1_Silent_p.T128T NM_004537.4|NM_139207.2 NP_004528.1|NP_631946.1 P55209 NP1L1_HUMAN nucleosome assembly protein 1-like 1 128 DNA replication|nucleosome assembly|positive regulation of cell proliferation chromatin assembly complex|melanosome protein binding kidney(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|skin(1) 9 Colorectal(145;0.09) ATTCTTCTTCCGTAGGTTCAT 0.308000 41 19 0 0 1 0 0 TRIM51 84767 broad.mit.edu 37 11 55659044 55659044 + Missense_Mutation SNP A A T TCGA-DB-5277-01A-01D-1468-08 TCGA-DB-5277-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff5b06bf-99d6-4276-8646-b91ef5ed480e 54fcd6db-49a2-47d2-9086-3f7b89e39015 g.chr11:55659044A>T ENST00000449290.2 + 7 1387 c.1295A>T c.(1294-1296)tAc>tTc p.Y432F TRIM51_ENST00000244891.3_Missense_Mutation_p.Y289F NM_032681.3 NP_116070.2 Q9BSJ1 SPRY5_HUMAN tripartite motif-containing 51 432 B30.2/SPRY. intracellular zinc ion binding TCCCTGATATACACCATCCCC 0.453000 6 119 0 0 1 0 0 SP100 6672 broad.mit.edu 37 2 231314895 231314895 + Missense_Mutation SNP G G A TCGA-DB-5277-01A-01D-1468-08 TCGA-DB-5277-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff5b06bf-99d6-4276-8646-b91ef5ed480e 54fcd6db-49a2-47d2-9086-3f7b89e39015 g.chr2:231314895G>A ENST00000264052.5 + 8 1100 c.745G>A c.(745-747)Gaa>Aaa p.E249K SP100_ENST00000409824.1_Missense_Mutation_p.E224K|SP100_ENST00000427101.2_Missense_Mutation_p.E224K|SP100_ENST00000409341.1_Missense_Mutation_p.E249K|SP100_ENST00000340126.4_Missense_Mutation_p.E249K|SP100_ENST00000341950.4_Missense_Mutation_p.E249K|SP100_ENST00000409112.1_Missense_Mutation_p.E249K|SP100_ENST00000409897.1_Missense_Mutation_p.E214K NM_003113.3 NP_003104.2 P23497 SP100_HUMAN SP100 nuclear antigen 249 DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|interspecies interaction between organisms|negative regulation of cellular component movement|negative regulation of DNA binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of viral transcription|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to cytokine stimulus|response to retinoic acid|response to type I interferon cytoplasm|nuclear periphery|nucleolus|PML body chromo shadow domain binding|DNA binding|identical protein binding|kinase binding|protein homodimerization activity|transcription coactivator activity|transcription corepressor activity|transcription factor binding breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1) 25 Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167) Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942) AGAGTCCTGCGAACAAATTGC 0.473000 75 59 0 0 1 0 0 AMER3 205147 broad.mit.edu 37 2 131520982 131520982 + Missense_Mutation SNP A A G TCGA-DB-5277-01A-01D-1468-08 TCGA-DB-5277-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff5b06bf-99d6-4276-8646-b91ef5ed480e 54fcd6db-49a2-47d2-9086-3f7b89e39015 g.chr2:131520982A>G ENST00000423981.1 + 2 1447 c.1337A>G c.(1336-1338)gAg>gGg p.E446G AMER3_ENST00000321420.4_Missense_Mutation_p.E446G NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2 NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2 APC membrane recruitment protein 3 TGCGTGTCTGAGAGTCTGTCA 0.662000 3 89 0 0 1 0 0 PAIP1 10605 broad.mit.edu 37 5 43529961 43529961 + Missense_Mutation SNP C C G TCGA-DB-5277-01A-01D-1468-08 TCGA-DB-5277-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff5b06bf-99d6-4276-8646-b91ef5ed480e 54fcd6db-49a2-47d2-9086-3f7b89e39015 g.chr5:43529961C>G ENST00000306846.3 - 10 1505 c.1273G>C c.(1273-1275)Gaa>Caa p.E425Q PAIP1_ENST00000436644.2_Missense_Mutation_p.E346Q|PAIP1_ENST00000338972.4_Missense_Mutation_p.E313Q|PAIP1_ENST00000514514.1_Intron NM_006451.4|NM_182789.3 NP_006442.2|NP_877590.1 Q9H074 PAIP1_HUMAN poly(A) binding protein interacting protein 1 425 mRNA stabilization|nuclear-transcribed mRNA poly(A) tail shortening|translational initiation cytosol protein binding|RNA binding|translation activator activity endometrium(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 24 Lung NSC(6;2.07e-05) TCAAGTAATTCTTGGTATTTC 0.333000 3 120 0 0 1 0 0 BDKRB2 0 broad.mit.edu 37 14 96706767 96706767 + Silent SNP A A G TCGA-DB-5277-01A-01D-1468-08 TCGA-DB-5277-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff5b06bf-99d6-4276-8646-b91ef5ed480e 54fcd6db-49a2-47d2-9086-3f7b89e39015 g.chr14:96706767A>G ENST00000542454.2 + 3 3109 c.21A>G c.(19-21)caA>caG p.Q7Q BDKRB2_ENST00000554311.1_Silent_p.Q34Q|BDKRB2_ENST00000306005.3_Silent_p.Q34Q|RP11-404P21.8_ENST00000553811.1_Intron|BDKRB2_ENST00000539359.1_Silent_p.Q7Q P30411 BKRB2_HUMAN bradykinin receptor B2 34 arachidonic acid secretion|elevation of cytosolic calcium ion concentration|transmembrane receptor protein tyrosine kinase signaling pathway endosome|integral to plasma membrane bradykinin receptor activity|phosphatidylinositol phospholipase C activity|protease binding|protein heterodimerization activity|type 1 angiotensin receptor binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|lung(7)|ovary(3)|skin(1) 24 all_cancers(154;0.0678)|Melanoma(154;0.155)|all_epithelial(191;0.179) COAD - Colon adenocarcinoma(157;0.226) TCACCTTGCAAGGGCCCACTC 0.567000 6 459 0 0 1 0 0 AKR1E2 83592 broad.mit.edu 37 10 4881968 4881968 + Silent SNP C C T TCGA-DB-5277-01A-01D-1468-08 TCGA-DB-5277-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff5b06bf-99d6-4276-8646-b91ef5ed480e 54fcd6db-49a2-47d2-9086-3f7b89e39015 g.chr10:4881968C>T ENST00000298375.7 + 6 701 c.630C>T c.(628-630)tgC>tgT p.C210C AKR1E2_ENST00000334019.4_Intron|AKR1E2_ENST00000532248.1_Intron|AKR1E2_ENST00000525281.1_Intron|AKR1E2_ENST00000345253.5_Intron NM_001040177.1 NP_001035267.1 Q96JD6 AKCL2_HUMAN aldo-keto reductase family 1, member E2 210 cytoplasm 1,5-anhydro-D-fructose reductase activity p.C210C(1) NS(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9) 15 TCAGTTTTTGCCAATCCAGAG 0.433000 4 131 0 0 1 0 0 ZNF438 220929 broad.mit.edu 37 10 31138346 31138346 + Missense_Mutation SNP G G A TCGA-DB-5277-01A-01D-1468-08 TCGA-DB-5277-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff5b06bf-99d6-4276-8646-b91ef5ed480e 54fcd6db-49a2-47d2-9086-3f7b89e39015 g.chr10:31138346G>A ENST00000538351.1 - 7 1595 c.841C>T c.(841-843)Ccc>Tcc p.P281S ZNF438_ENST00000444692.2_Missense_Mutation_p.P320S|ZNF438_ENST00000413025.1_Missense_Mutation_p.P330S|ZNF438_ENST00000361310.3_Missense_Mutation_p.P330S|ZNF438_ENST00000331737.6_Missense_Mutation_p.P320S|ZNF438_ENST00000442986.1_Missense_Mutation_p.P330S|ZNF438_ENST00000452305.1_Missense_Mutation_p.P320S|ZNF438_ENST00000375311.1_5'UTR|ZNF438_ENST00000436087.2_Missense_Mutation_p.P330S NM_001143769.1 NP_001137241.1 Q7Z4V0 ZN438_HUMAN zinc finger protein 438 330 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(15)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 Prostate(175;0.0587) GTGGTGGAGGGTATCTTATCA 0.463000 24 226 0 0 1 0 0 ZNF750 79755 broad.mit.edu 37 17 80789719 80789719 + Silent SNP G G C TCGA-DB-5277-01A-01D-1468-08 TCGA-DB-5277-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff5b06bf-99d6-4276-8646-b91ef5ed480e 54fcd6db-49a2-47d2-9086-3f7b89e39015 g.chr17:80789719G>C ENST00000269394.3 - 2 1445 c.612C>G c.(610-612)ggC>ggG p.G204G ZNF750_ENST00000572562.1_Intron|TBCD_ENST00000539345.2_Intron|TBCD_ENST00000397466.2_Intron|TBCD_ENST00000355528.4_Intron NM_024702.2 NP_078978.2 Q32MQ0 ZN750_HUMAN zinc finger protein 750 204 intracellular zinc ion binding NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 31 Breast(20;0.000523)|all_neural(118;0.0779) all_cancers(8;0.0514)|all_epithelial(8;0.0748) OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149) TCCAGGGGTAGCCAGGAGTGT 0.577000 11 99 0 0 1 0 0 ASPM 259266 broad.mit.edu 37 1 197086968 197086968 + Missense_Mutation SNP T T G TCGA-DB-5277-01A-01D-1468-08 TCGA-DB-5277-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff5b06bf-99d6-4276-8646-b91ef5ed480e 54fcd6db-49a2-47d2-9086-3f7b89e39015 g.chr1:197086968T>G ENST00000367409.4 - 17 4272 c.4016A>C c.(4015-4017)aAa>aCa p.K1339T ASPM_ENST00000367408.1_Missense_Mutation_p.K589T|ASPM_ENST00000294732.7_Missense_Mutation_p.K1339T NM_018136.4 NP_060606.3 Q8IZT6 ASPM_HUMAN asp (abnormal spindle) homolog, microcephaly associated (Drosophila) 1339 mitosis cytoplasm|nucleus calmodulin binding breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3) 165 CTTTTCCTTTTTTAACATTAA 0.289000 6 298 0 0 1 0 0 C1orf173 127254 broad.mit.edu 37 1 75037595 75037595 + Missense_Mutation SNP C C T TCGA-DB-5277-01A-01D-1468-08 TCGA-DB-5277-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff5b06bf-99d6-4276-8646-b91ef5ed480e 54fcd6db-49a2-47d2-9086-3f7b89e39015 g.chr1:75037595C>T ENST00000326665.5 - 14 4017 c.3799G>A c.(3799-3801)Gtg>Atg p.V1267M C1orf173_ENST00000433746.2_5'UTR NM_001002912.4 NP_001002912.4 Q5RHP9 CA173_HUMAN chromosome 1 open reading frame 173 1267 Glu-rich. NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5) 184 GTCCTTAGCACGACATCCACT 0.577000 6 198 0 0 1 0 0 PELP1 27043 broad.mit.edu 37 17 4578457 4578457 + Silent SNP C C G TCGA-DB-5277-01A-01D-1468-08 TCGA-DB-5277-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff5b06bf-99d6-4276-8646-b91ef5ed480e 54fcd6db-49a2-47d2-9086-3f7b89e39015 g.chr17:4578457C>G ENST00000301396.4 - 11 1848 c.1623G>C c.(1621-1623)ctG>ctC p.L541L PELP1_ENST00000574876.1_Silent_p.L397L|PELP1_ENST00000572293.1_Silent_p.L447L|PELP1_ENST00000269230.7_Silent_p.L395L|PELP1_ENST00000436683.2_Silent_p.L250L Q8IZL8 PELP1_HUMAN proline, glutamate and leucine rich protein 1 397 transcription, DNA-dependent cytoplasm|MLL1 complex protein binding breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 15 GGCGGCCGATCAGGATCCCAA 0.607000 7 22 0 0 1 0 0 CHD5 26038 broad.mit.edu 37 1 6202211 6202212 + Frame_Shift_Ins INS - - A TCGA-DB-5277-01A-01D-1468-08 TCGA-DB-5277-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff5b06bf-99d6-4276-8646-b91ef5ed480e 54fcd6db-49a2-47d2-9086-3f7b89e39015 g.chr1:6202211_6202212insA ENST00000262450.3 - 15 2511_2512 c.2412_2413insT c.(2410-2415)agggaafs p.RE804fs CHD5_ENST00000378021.1_5'UTR NM_015557.2 NP_056372.1 Q8TDI0 CHD5_HUMAN chromodomain helicase DNA binding protein 5 804 Helicase ATP-binding. chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2) 16 Ovarian(185;0.0634) all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15) Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193) ACCTTCTTCCCACTCCGAATGG 0.599 115 202 --- --- --- --- ESPNP 0 broad.mit.edu 37 1 17034125 17034126 + RNA INS - - AGCT rs141324796 by1000genomes TCGA-DB-5277-01A-01D-1468-08 TCGA-DB-5277-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff5b06bf-99d6-4276-8646-b91ef5ed480e 54fcd6db-49a2-47d2-9086-3f7b89e39015 g.chr1:17034125_17034126insAGCT ENST00000492551.1 - 0 477_478 NR_026567.1 CAGCAGCAGCCAGCTGAGCACC 0.718 4 4 --- --- --- --- RNF139 11236 broad.mit.edu 37 8 125498877 125498880 + Frame_Shift_Del DEL TTTA TTTA - TCGA-DB-5277-01A-01D-1468-08 TCGA-DB-5277-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff5b06bf-99d6-4276-8646-b91ef5ed480e 54fcd6db-49a2-47d2-9086-3f7b89e39015 g.chr8:125498877_125498880delTTTA ENST00000303545.3 + 2 1359_1362 c.987_990delTTTA c.(985-990)gtfs p.VL329fs NM_007218.3 NP_009149.2 Q8WU17 RN139_HUMAN ring finger protein 139 329 negative regulation of cell proliferation|regulation of protein ubiquitination endoplasmic reticulum membrane|integral to membrane protein binding|receptor activity|ubiquitin-protein ligase activity|zinc ion binding breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(4)|prostate(1)|skin(1) 20 Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108) STAD - Stomach adenocarcinoma(47;0.00288) TTGCACCTGTTTTATTTTTTATTT 0.412 53 506 --- --- --- --- LINC00987 0 broad.mit.edu 37 12 9392739 9392740 + RNA INS - - TCTTCCTCCTCC rs71045240 TCGA-DB-5277-01A-01D-1468-08 TCGA-DB-5277-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff5b06bf-99d6-4276-8646-b91ef5ed480e 54fcd6db-49a2-47d2-9086-3f7b89e39015 g.chr12:9392739_9392740insTCTTCCTCCTCC ENST00000427111.3 + 0 141_142 NR_036466.1 caccatcaccttcttcctcccc 0.545 5 6 --- --- --- --- APCDD1L-AS1 0 broad.mit.edu 37 20 57104949 57104949 + RNA DEL T T - rs35353712 TCGA-DB-5277-01A-01D-1468-08 TCGA-DB-5277-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff5b06bf-99d6-4276-8646-b91ef5ed480e 54fcd6db-49a2-47d2-9086-3f7b89e39015 g.chr20:57104949delT ENST00000427140.1 + 0 826 NR_034147.1 gggcctggagttttttttttt 0.338 3 6 --- --- --- ---