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 ASH1L 55870 broad.mit.edu 37 1 155451980 155451980 + Nonsense_Mutation SNP A A T TCGA-EJ-5505-01A-01D-1576-08 TCGA-EJ-5505-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81a818c2-0b58-46fa-a0a7-6f7cf020ba45 7756bd88-7802-41a3-abcb-aed3b0481164 g.chr1:155451980A>T ENST00000368346.3 - 3 1320 c.681T>A c.(679-681)tgT>tgA p.C227* ASH1L_ENST00000548830.1_3'UTR|ASH1L_ENST00000392403.3_Nonsense_Mutation_p.C227* Q9NR48 ASH1L_HUMAN ash1 (absent, small, or homeotic)-like (Drosophila) 227 cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter chromosome|Golgi apparatus|nucleus|tight junction DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding p.C227*(1) autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4) 124 Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145) Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021) TGGAAGGAGGACAGGTAGCAA 0.453 67 181 --- --- --- --- NUP133 55746 broad.mit.edu 37 1 229635527 229635527 + Missense_Mutation SNP G G C TCGA-EJ-5505-01A-01D-1576-08 TCGA-EJ-5505-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81a818c2-0b58-46fa-a0a7-6f7cf020ba45 7756bd88-7802-41a3-abcb-aed3b0481164 g.chr1:229635527G>C ENST00000261396.3 - 5 643 c.552C>G c.(550-552)atC>atG p.I184M NUP133_ENST00000537506.1_Missense_Mutation_p.I168M|NUP133_ENST00000366678.3_Missense_Mutation_p.I184M NM_018230.2 NP_060700.2 Q8WUM0 NU133_HUMAN nucleoporin 133kDa 184 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytosol|Nup107-160 complex nucleocytoplasmic transporter activity|protein binding p.I184M(1) NS(1)|breast(7)|endometrium(1)|kidney(6)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(4) 56 Breast(184;0.104)|Ovarian(103;0.249) Prostate(94;0.167) GCCAATAGCGGATAGATCCTT 0.453 15 88 --- --- --- --- ATP6V1C2 245973 broad.mit.edu 37 2 10918726 10918726 + Missense_Mutation SNP A A C TCGA-EJ-5505-01A-01D-1576-08 TCGA-EJ-5505-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81a818c2-0b58-46fa-a0a7-6f7cf020ba45 7756bd88-7802-41a3-abcb-aed3b0481164 g.chr2:10918726A>C ENST00000381661.3 + 11 963 c.854A>C c.(853-855)aAc>aCc p.N285T ATP6V1C2_ENST00000272238.4_Missense_Mutation_p.N331T NM_144583.3 NP_653184.2 Q8NEY4 VATC2_HUMAN ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C2 331 ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport cytosol|proton-transporting V-type ATPase, V1 domain p.N285T(1)|p.N331T(1) endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 19 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191) Epithelial(75;0.15)|OV - Ovarian serous cystadenocarcinoma(76;0.152) CTCAAGGTGAACTTCAGTGAA 0.602 21 100 --- --- --- --- PTH2R 5746 broad.mit.edu 37 2 209358096 209358096 + Silent SNP G G T TCGA-EJ-5505-01A-01D-1576-08 TCGA-EJ-5505-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81a818c2-0b58-46fa-a0a7-6f7cf020ba45 7756bd88-7802-41a3-abcb-aed3b0481164 g.chr2:209358096G>T ENST00000272847.2 + 13 1578 c.1365G>T c.(1363-1365)gtG>gtT p.V455V PTH2R_ENST00000413482.1_3'UTR|AC019185.4_ENST00000424628.1_RNA NM_005048.2 NP_005039.1 P49190 PTH2R_HUMAN parathyroid hormone 2 receptor 455 integral to plasma membrane parathyroid hormone receptor activity p.V455V(1) breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(21)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 43 Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836) TCACCACCGTGACGCACAGCA 0.612 3 20 --- --- --- --- ASIC4 55515 broad.mit.edu 37 2 220396564 220396564 + Missense_Mutation SNP G G A TCGA-EJ-5505-01A-01D-1576-08 TCGA-EJ-5505-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81a818c2-0b58-46fa-a0a7-6f7cf020ba45 7756bd88-7802-41a3-abcb-aed3b0481164 g.chr2:220396564G>A ENST00000358078.4 + 2 1062 c.1048G>A c.(1048-1050)Ggc>Agc p.G350S ASIC4_ENST00000347842.3_Missense_Mutation_p.G350S|ASIC4_ENST00000473709.1_3'UTR Q96FT7 ACCN4_HUMAN acid-sensing (proton-gated) ion channel family member 4 350 integral to plasma membrane sodium channel activity|sodium ion transmembrane transporter activity p.G350S(1) CATGGGCAGTGGCCTGGAGAT 0.632 51 160 --- --- --- --- DOCK10 55619 broad.mit.edu 37 2 225717687 225717687 + Missense_Mutation SNP G G T TCGA-EJ-5505-01A-01D-1576-08 TCGA-EJ-5505-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81a818c2-0b58-46fa-a0a7-6f7cf020ba45 7756bd88-7802-41a3-abcb-aed3b0481164 g.chr2:225717687G>T ENST00000409592.3 - 17 2136 c.2023C>A c.(2023-2025)Cac>Aac p.H675N DOCK10_ENST00000258390.7_Missense_Mutation_p.H681N Q96BY6 DOC10_HUMAN dedicator of cytokinesis 10 681 DHR-1. GTP binding p.H681N(2) NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 87 Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14) Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178) TACTTGAGGTGTTTGGGGTAA 0.338 29 124 --- --- --- --- DUSP7 1849 broad.mit.edu 37 3 52088081 52088081 + Missense_Mutation SNP T T C TCGA-EJ-5505-01A-01D-1576-08 TCGA-EJ-5505-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81a818c2-0b58-46fa-a0a7-6f7cf020ba45 7756bd88-7802-41a3-abcb-aed3b0481164 g.chr3:52088081T>C ENST00000495880.1 - 2 1010 c.827A>G c.(826-828)aAt>aGt p.N276S DUSP7_ENST00000296483.6_Missense_Mutation_p.N225S Q16829 DUS7_HUMAN dual specificity phosphatase 7 276 inactivation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm MAP kinase tyrosine/serine/threonine phosphatase activity|protein binding|protein tyrosine phosphatase activity p.N225S(1) breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1) 17 BRCA - Breast invasive adenocarcinoma(193;5.14e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) GGGTGTGACATTGAGGATATA 0.582 47 169 --- --- --- --- ZBBX 79740 broad.mit.edu 37 3 167068219 167068219 + Missense_Mutation SNP T T C TCGA-EJ-5505-01A-01D-1576-08 TCGA-EJ-5505-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81a818c2-0b58-46fa-a0a7-6f7cf020ba45 7756bd88-7802-41a3-abcb-aed3b0481164 g.chr3:167068219T>C ENST00000392766.2 - 9 857 c.517A>G c.(517-519)Act>Gct p.T173A ZBBX_ENST00000392764.1_Missense_Mutation_p.T144A|ZBBX_ENST00000469220.1_Intron|ZBBX_ENST00000455345.2_Missense_Mutation_p.T173A|ZBBX_ENST00000392767.2_Missense_Mutation_p.T173A|ZBBX_ENST00000307529.5_Missense_Mutation_p.T173A NM_001199201.1|NM_024687.3 NP_001186130.1|NP_078963.2 A8MT70 ZBBX_HUMAN zinc finger, B-box domain containing 173 intracellular zinc ion binding p.T173A(2) NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1) 70 TGCAAAAGAGTTGTTCTGTGG 0.328 75 310 --- --- --- --- ACTRT3 84517 broad.mit.edu 37 3 169486066 169486066 + Silent SNP A A G TCGA-EJ-5505-01A-01D-1576-08 TCGA-EJ-5505-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81a818c2-0b58-46fa-a0a7-6f7cf020ba45 7756bd88-7802-41a3-abcb-aed3b0481164 g.chr3:169486066A>G ENST00000330368.2 - 2 647 c.273T>C c.(271-273)taT>taC p.Y91Y NM_032487.4 NP_115876.3 Q9BYD9 ARPM1_HUMAN actin-related protein T3 91 cytoplasm|cytoskeleton p.Y91Y(1) GCTTTAGGTTATAGTCATAGA 0.473 43 64 --- --- --- --- HSPA1B 3304 broad.mit.edu 37 6 31797488 31797488 + Silent SNP C C G TCGA-EJ-5505-01A-01D-1576-08 TCGA-EJ-5505-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81a818c2-0b58-46fa-a0a7-6f7cf020ba45 7756bd88-7802-41a3-abcb-aed3b0481164 g.chr6:31797488C>G ENST00000375650.3 + 1 1977 c.1761C>G c.(1759-1761)gcC>gcG p.A587A HSPA1B_ENST00000545241.1_Silent_p.A496A NM_005346.4 NP_005337.2 P08107 HSP71_HUMAN heat shock 70kDa protein 1B 587 anti-apoptosis|mRNA catabolic process|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of inclusion body assembly|protein refolding|response to unfolded protein cytosol|endoplasmic reticulum|inclusion body|mitochondrion|nuclear speck|perinuclear region of cytoplasm|ribonucleoprotein complex ATP binding|protein binding involved in protein folding|protein N-terminus binding|receptor activity|ubiquitin protein ligase binding|unfolded protein binding p.A587A(1) breast(1)|large_intestine(1)|prostate(1) 3 ACACCTTGGCCGAGAAGGACG 0.597 9 48 --- --- --- --- PI16 221476 broad.mit.edu 37 6 36927000 36927000 + Missense_Mutation SNP G G A rs139393851 TCGA-EJ-5505-01A-01D-1576-08 TCGA-EJ-5505-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81a818c2-0b58-46fa-a0a7-6f7cf020ba45 7756bd88-7802-41a3-abcb-aed3b0481164 g.chr6:36927000G>A ENST00000373674.3 + 2 579 c.251G>A c.(250-252)cGc>cAc p.R84H NM_001199159.1|NM_153370.2 NP_001186088.1|NP_699201.2 Q6UXB8 PI16_HUMAN peptidase inhibitor 16 84 extracellular region|integral to membrane peptidase inhibitor activity p.R84H(1) breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(13)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 GAGCGCGGGCGCCGCGGCGAG 0.667 9 14 --- --- --- --- RAC1 5879 broad.mit.edu 37 7 6431629 6431629 + Missense_Mutation SNP A A G TCGA-EJ-5505-01A-01D-1576-08 TCGA-EJ-5505-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81a818c2-0b58-46fa-a0a7-6f7cf020ba45 7756bd88-7802-41a3-abcb-aed3b0481164 g.chr7:6431629A>G ENST00000348035.4 + 3 395 c.182A>G c.(181-183)cAa>cGa p.Q61R RAC1_ENST00000356142.4_Missense_Mutation_p.Q61R|RAC1_ENST00000488373.1_3'UTR NM_006908.4 NP_008839.2 P63000 RAC1_HUMAN ras-related C3 botulinum toxin substrate 1 (rho family, small GTP binding protein Rac1) 61 actin filament polymerization|apoptosis|axon guidance|cell motility|cell-matrix adhesion|induction of apoptosis by extracellular signals|inflammatory response|lamellipodium assembly|localization within membrane|negative regulation of interleukin-23 production|negative regulation of receptor-mediated endocytosis|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of lamellipodium assembly|positive regulation of Rho protein signal transduction|regulation of cell migration|regulation of defense response to virus by virus|regulation of hydrogen peroxide metabolic process|regulation of respiratory burst|ruffle organization|small GTPase mediated signal transduction|T cell costimulation|viral reproduction cytosol|melanosome|plasma membrane GTP binding|GTP-dependent protein binding|GTPase activity|thioesterase binding p.Q61R(1) cervix(1)|endometrium(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 8 Ovarian(82;0.0776) UCEC - Uterine corpus endometrioid carcinoma (126;0.104) Pravastatin(DB00175)|Simvastatin(DB00641) ACAGCTGGACAAGAAGATTAT 0.403 12 226 --- --- --- --- BRAF 673 broad.mit.edu 37 7 140501299 140501299 + Missense_Mutation SNP C C A TCGA-EJ-5505-01A-01D-1576-08 TCGA-EJ-5505-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81a818c2-0b58-46fa-a0a7-6f7cf020ba45 7756bd88-7802-41a3-abcb-aed3b0481164 g.chr7:140501299C>A ENST00000288602.6 - 6 833 c.773G>T c.(772-774)gGt>gTt p.G258V NM_004333.4 NP_004324.2 P15056 BRAF_HUMAN v-raf murine sarcoma viral oncogene homolog B 258 activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding p.G258V(1) SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) ACAGCGGAAACCCTGGAAAAG 0.368 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 11 75 --- --- --- --- MLLT3 4300 broad.mit.edu 37 9 20620724 20620724 + Missense_Mutation SNP T T C TCGA-EJ-5505-01A-01D-1576-08 TCGA-EJ-5505-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81a818c2-0b58-46fa-a0a7-6f7cf020ba45 7756bd88-7802-41a3-abcb-aed3b0481164 g.chr9:20620724T>C ENST00000380338.4 - 2 408 c.122A>G c.(121-123)cAc>cGc p.H41R MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Missense_Mutation_p.H38R NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 41 YEATS. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.H41R(1) 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) TATGTTACTGTGCTCCGGACC 0.547 T MLL ALL 47 216 --- --- --- --- RFK 55312 broad.mit.edu 37 9 79002418 79002418 + Missense_Mutation SNP T T A TCGA-EJ-5505-01A-01D-1576-08 TCGA-EJ-5505-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81a818c2-0b58-46fa-a0a7-6f7cf020ba45 7756bd88-7802-41a3-abcb-aed3b0481164 g.chr9:79002418T>A ENST00000376736.1 - 4 698 c.365A>T c.(364-366)gAt>gTt p.D122V NM_018339.5 NP_060809.3 Q969G6 RIFK_HUMAN riboflavin kinase 122 riboflavin biosynthetic process cytosol ATP binding|metal ion binding|riboflavin kinase activity p.D129V(1) pancreas(1)|prostate(1)|urinary_tract(1) 3 Riboflavin(DB00140) TTCTTCAATATCACCTTGAAT 0.333 15 267 --- --- --- --- XRRA1 143570 broad.mit.edu 37 11 74618288 74618288 + Missense_Mutation SNP C C G TCGA-EJ-5505-01A-01D-1576-08 TCGA-EJ-5505-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81a818c2-0b58-46fa-a0a7-6f7cf020ba45 7756bd88-7802-41a3-abcb-aed3b0481164 g.chr11:74618288C>G ENST00000340360.6 - 9 994 c.663G>C c.(661-663)aaG>aaC p.K221N RP11-147I3.1_ENST00000533875.1_RNA|XRRA1_ENST00000321448.8_5'UTR|XRRA1_ENST00000527087.1_Missense_Mutation_p.K221N NM_182969.2 NP_892014.1 Q6P2D8 XRRA1_HUMAN X-ray radiation resistance associated 1 221 response to X-ray cytoplasm|nucleus p.K221N(1) breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(3) 20 GGATGTACCTCTTGCTTGTCA 0.542 20 105 --- --- --- --- HEPHL1 341208 broad.mit.edu 37 11 93803647 93803647 + Missense_Mutation SNP T T C TCGA-EJ-5505-01A-01D-1576-08 TCGA-EJ-5505-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81a818c2-0b58-46fa-a0a7-6f7cf020ba45 7756bd88-7802-41a3-abcb-aed3b0481164 g.chr11:93803647T>C ENST00000315765.9 + 6 1179 c.1171T>C c.(1171-1173)Tgg>Cgg p.W391R NM_001098672.1 NP_001092142.1 Q6MZM0 HPHL1_HUMAN hephaestin-like 1 391 Plastocyanin-like 3. copper ion transport integral to membrane copper ion binding|oxidoreductase activity p.W392R(1)|p.W391R(1) NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 61 Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824) AAAAATTCTTTGGGATTATGC 0.438 15 33 --- --- --- --- TIMELESS 8914 broad.mit.edu 37 12 56817470 56817470 + Missense_Mutation SNP C C T TCGA-EJ-5505-01A-01D-1576-08 TCGA-EJ-5505-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81a818c2-0b58-46fa-a0a7-6f7cf020ba45 7756bd88-7802-41a3-abcb-aed3b0481164 g.chr12:56817470C>T ENST00000229201.4 - 17 2139 c.1985G>A c.(1984-1986)cGt>cAt p.R662H TIMELESS_ENST00000553532.1_Missense_Mutation_p.R663H|TIMELESS_ENST00000554616.1_Intron NM_003920.3 NP_003911.2 Q9UNS1 TIM_HUMAN timeless circadian clock 663 Glu-rich. cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent nuclear chromatin p.R663H(1) NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1) 49 ctcTGCCCCACGTTCCTCTGG 0.502 13 40 --- --- --- --- FAM63B 54629 broad.mit.edu 37 15 59064095 59064095 + Silent SNP T T G TCGA-EJ-5505-01A-01D-1576-08 TCGA-EJ-5505-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81a818c2-0b58-46fa-a0a7-6f7cf020ba45 7756bd88-7802-41a3-abcb-aed3b0481164 g.chr15:59064095T>G ENST00000559228.1 + 1 583 c.501T>G c.(499-501)ccT>ccG p.P167P FAM63B_ENST00000450403.2_Silent_p.P167P Q8NBR6 FA63B_HUMAN family with sequence similarity 63, member B 167 p.P167P(1) central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 15 CGAGCCCTCCTGGGGAATCTC 0.632 4 32 --- --- --- --- C16orf54 283897 broad.mit.edu 37 16 29755663 29755663 + Missense_Mutation SNP G G A TCGA-EJ-5505-01A-01D-1576-08 TCGA-EJ-5505-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81a818c2-0b58-46fa-a0a7-6f7cf020ba45 7756bd88-7802-41a3-abcb-aed3b0481164 g.chr16:29755663G>A ENST00000329410.3 - 2 705 c.610C>T c.(610-612)Cgg>Tgg p.R204W NM_175900.3 NP_787096.2 Q6UWD8 CP054_HUMAN chromosome 16 open reading frame 54 204 integral to membrane p.R204W(1) breast(1)|central_nervous_system(1)|lung(2)|prostate(1)|urinary_tract(1) 6 AAGGTGACCCGTGGCTGGAGG 0.667 6 31 --- --- --- --- ITGAD 3681 broad.mit.edu 37 16 31427932 31427932 + Missense_Mutation SNP G G A rs143518464 TCGA-EJ-5505-01A-01D-1576-08 TCGA-EJ-5505-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81a818c2-0b58-46fa-a0a7-6f7cf020ba45 7756bd88-7802-41a3-abcb-aed3b0481164 g.chr16:31427932G>A ENST00000389202.2 + 20 2513 c.2464G>A c.(2464-2466)Gca>Aca p.A822T NM_005353.2 NP_005344.2 Q13349 ITAD_HUMAN integrin, alpha D 822 cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway integrin complex receptor activity p.A822T(2) breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 71 CTACTATCCAGCAGGGCTGTC 0.622 41 132 --- --- --- --- CNOT1 23019 broad.mit.edu 37 16 58621140 58621140 + Missense_Mutation SNP A A C TCGA-EJ-5505-01A-01D-1576-08 TCGA-EJ-5505-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81a818c2-0b58-46fa-a0a7-6f7cf020ba45 7756bd88-7802-41a3-abcb-aed3b0481164 g.chr16:58621140A>C ENST00000317147.5 - 6 730 c.398T>G c.(397-399)cTg>cGg p.L133R CNOT1_ENST00000441024.2_Missense_Mutation_p.L133R|CNOT1_ENST00000569240.1_Missense_Mutation_p.L133R NM_001265612.1|NM_016284.4 NP_001252541.1|NP_057368.3 A5YKK6 CNOT1_HUMAN CCR4-NOT transcription complex, subunit 1 133 nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic mRNA processing body|cytosol p.L133R(2) breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2) 87 Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239) AGAATTCAACAGGGCAAGGCC 0.338 29 135 --- --- --- --- SPOP 8405 broad.mit.edu 37 17 47696688 47696688 + Missense_Mutation SNP T T G TCGA-EJ-5505-01A-01D-1576-08 TCGA-EJ-5505-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81a818c2-0b58-46fa-a0a7-6f7cf020ba45 7756bd88-7802-41a3-abcb-aed3b0481164 g.chr17:47696688T>G ENST00000393331.3 - 6 730 c.260A>C c.(259-261)tAc>tCc p.Y87S SPOP_ENST00000504102.1_Missense_Mutation_p.Y87S|SPOP_ENST00000513080.1_5'UTR|SPOP_ENST00000393328.2_Missense_Mutation_p.Y87S|SPOP_ENST00000347630.2_Missense_Mutation_p.Y87S|SPOP_ENST00000503676.1_Missense_Mutation_p.Y87S NM_001007226.1|NM_001007227.1 NP_001007227.1|NP_001007228.1 O43791 SPOP_HUMAN speckle-type POZ protein 87 MATH.|Required for nuclear localization. mRNA processing nucleus protein binding p.Y87C(2)|p.Y87S(2) endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33) 63 CAGTAACAGGTAAAGTGACAG 0.403 Prostate(2;0.17) 44 199 --- --- --- --- DNMT1 1786 broad.mit.edu 37 19 10265299 10265299 + Missense_Mutation SNP C C T TCGA-EJ-5505-01A-01D-1576-08 TCGA-EJ-5505-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81a818c2-0b58-46fa-a0a7-6f7cf020ba45 7756bd88-7802-41a3-abcb-aed3b0481164 g.chr19:10265299C>T ENST00000340748.4 - 20 1982 c.1747G>A c.(1747-1749)Gac>Aac p.D583N DNMT1_ENST00000359526.4_Missense_Mutation_p.D599N|DNMT1_ENST00000540357.1_Missense_Mutation_p.D583N P26358 DNMT1_HUMAN DNA (cytosine-5-)-methyltransferase 1 583 Interaction with the PRC2/EED-EZH2 complex (By similarity). chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent nucleus DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding p.D583N(2) breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1) 70 OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06) Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035) TTGATCAGGTCCCGCATGCAG 0.622 25 98 --- --- --- --- CYP2A6 1548 broad.mit.edu 37 19 41351368 41351368 + Missense_Mutation SNP A A G rs146206761 byFrequency TCGA-EJ-5505-01A-01D-1576-08 TCGA-EJ-5505-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81a818c2-0b58-46fa-a0a7-6f7cf020ba45 7756bd88-7802-41a3-abcb-aed3b0481164 g.chr19:41351368A>G ENST00000301141.5 - 7 1012 c.992T>C c.(991-993)aTt>aCt p.I331T CTC-490E21.12_ENST00000601627.1_Intron NM_000762.5 NP_000753 P11509 CP2A6_HUMAN cytochrome P450, family 2, subfamily A, polypeptide 6 331 coumarin catabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|enzyme binding|heme binding p.I331T(1) breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(2) 37 LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959) Chlorzoxazone(DB00356)|Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Formoterol(DB00983)|Halothane(DB01159)|Letrozole(DB01006)|Methoxsalen(DB00553)|Metyrapone(DB01011)|Nicotine(DB00184)|Pilocarpine(DB01085)|Tolbutamide(DB01124)|Tranylcypromine(DB00752) CACTCTGTCAATCTCCTCATG 0.537 5 173 --- --- --- --- LIG1 3978 broad.mit.edu 37 19 48654539 48654539 + Missense_Mutation SNP C C T TCGA-EJ-5505-01A-01D-1576-08 TCGA-EJ-5505-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81a818c2-0b58-46fa-a0a7-6f7cf020ba45 7756bd88-7802-41a3-abcb-aed3b0481164 g.chr19:48654539C>T ENST00000263274.7 - 7 943 c.524G>A c.(523-525)gGa>gAa p.G175E LIG1_ENST00000536218.1_Intron|LIG1_ENST00000427526.2_Missense_Mutation_p.G144E|LIG1_ENST00000599165.1_5'UTR NM_000234.1 NP_000225.1 P18858 DNLI1_HUMAN ligase I, DNA, ATP-dependent 175 anatomical structure morphogenesis|base-excision repair|cell division|DNA ligation involved in DNA repair|DNA strand elongation involved in DNA replication|double-strand break repair via homologous recombination|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair nucleoplasm ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding p.G175E(2) breast(1)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(22)|prostate(2)|skin(1) 44 all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203) OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329) Bleomycin(DB00290) CCCGTCTTCTCCTTCCTTCTC 0.567 Nucleotide excision repair (NER) 66 248 --- --- --- --- ADRA1D 146 broad.mit.edu 37 20 4202306 4202306 + Missense_Mutation SNP C C T TCGA-EJ-5505-01A-01D-1576-08 TCGA-EJ-5505-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81a818c2-0b58-46fa-a0a7-6f7cf020ba45 7756bd88-7802-41a3-abcb-aed3b0481164 g.chr20:4202306C>T ENST00000379453.4 - 2 1699 c.1583G>A c.(1582-1584)cGc>cAc p.R528H NM_000678.3 NP_000669.1 P25100 ADA1D_HUMAN adrenoceptor alpha 1D 528 KPPSAFREWRLLGPFRRPTTQLRAKVSSLSHKIRAGGAQRA EAACAQRSEVEAVSLGVPHEVAEGATCQAYELADYSNLRET DI -> SHPAPSASGGCWGRSGDPRPSCAPKSPACRTRSPP GARSAQRQRAPSAQRWRLCP (in Ref. 1). cell proliferation|cell-cell signaling|DNA metabolic process|G-protein signaling, coupled to cAMP nucleotide second messenger|multicellular organismal development|positive regulation of cell proliferation integral to plasma membrane alpha1-adrenergic receptor activity p.R528H(1) endometrium(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 14 Alfuzosin(DB00346)|Bethanidine(DB00217)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Doxazosin(DB00590)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Methotrimeprazine(DB01403)|Norepinephrine(DB00368)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162) TGCCTCTGCGCGCTGCGCGCC 0.716 18 62 --- --- --- --- HCFC1 3054 broad.mit.edu 37 X 153224170 153224170 + Silent SNP A A C TCGA-EJ-5505-01A-01D-1576-08 TCGA-EJ-5505-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81a818c2-0b58-46fa-a0a7-6f7cf020ba45 7756bd88-7802-41a3-abcb-aed3b0481164 g.chrX:153224170A>C ENST00000310441.7 - 10 2619 c.1653T>G c.(1651-1653)gcT>gcG p.A551A HCFC1_ENST00000369984.4_Silent_p.A551A|HCFC1_ENST00000354233.3_Silent_p.A482A NM_005334.2 NP_005325.2 P51610 HCFC1_HUMAN host cell factor C1 (VP16-accessory protein) 551 cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity p.A551A(1)|p.A452A(1) NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) CAGCGGCCGCAGCGGCCAGTG 0.657 14 16 --- --- --- --- EFHC1 114327 broad.mit.edu 37 6 52288788 52288803 + Frame_Shift_Del DEL CTATGCAATTGTTCGA CTATGCAATTGTTCGA - TCGA-EJ-5505-01A-01D-1576-08 TCGA-EJ-5505-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81a818c2-0b58-46fa-a0a7-6f7cf020ba45 7756bd88-7802-41a3-abcb-aed3b0481164 g.chr6:52288788_52288803delCTATGCAATTGTTCGA ENST00000371068.5 + 2 211_226 c.108_123delCTATGCAATTGTTCGA c.(106-123)ggctatgcaattgttcgafs p.GYAIVR36fs EFHC1_ENST00000491749.1_3'UTR|EFHC1_ENST00000538167.1_Frame_Shift_Del_p.GYAIVR17fs|EFHC1_ENST00000433625.2_5'UTR NM_018100.3 NP_060570.2 Q5JVL4 EFHC1_HUMAN EF-hand domain (C-terminal) containing 1 36 axoneme|neuronal cell body calcium ion binding|protein C-terminus binding breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1) 27 Lung NSC(77;0.109) ACAGGAACGGCTATGCAATTGTTCGACGTCCAACAG 0.458 27 164 --- --- --- --- RALGAPA2 57186 broad.mit.edu 37 20 20591999 20592002 + Frame_Shift_Del DEL TTTA TTTA - TCGA-EJ-5505-01A-01D-1576-08 TCGA-EJ-5505-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81a818c2-0b58-46fa-a0a7-6f7cf020ba45 7756bd88-7802-41a3-abcb-aed3b0481164 g.chr20:20591999_20592002delTTTA ENST00000202677.7 - 14 1764_1767 c.1757_1760delTAAA c.(1756-1761)ataaagfs p.IK586fs NM_020343.3 NP_065076.2 Q2PPJ7 RGPA2_HUMAN Ral GTPase activating protein, alpha subunit 2 (catalytic) activation of Ral GTPase activity cytosol|nucleus protein heterodimerization activity|Ral GTPase activator activity endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 54 AAACAAGTCCTTTATTTGTTTATC 0.382 8 773 --- --- --- ---