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 LRRC7 57554 broad.mit.edu 37 1 70484494 70484494 + Silent SNP T T C TCGA-J4-A83N-01A-11D-A34U-08 TCGA-J4-A83N-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc3cdabd-8915-4d8e-99f6-84a7fa9bd27a 67b19aa7-53d6-481f-9a70-6667a6dfd141 g.chr1:70484494T>C ENST00000310961.5 + 16 1732 c.1314T>C c.(1312-1314)ggT>ggC p.G438G RP11-181B18.1_ENST00000414132.1_RNA|LRRC7_ENST00000415775.2_5'UTR|LRRC7_ENST00000035383.5_Silent_p.G433G Q96NW7 LRRC7_HUMAN leucine rich repeat containing 7 433 centrosome|focal adhesion|nucleolus protein binding breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 162 AGCCTCGTGGTGATGAAGGTA 0.393 8 27 --- --- --- --- XDH 7498 broad.mit.edu 37 2 31604515 31604515 + Silent SNP C C T TCGA-J4-A83N-01A-11D-A34U-08 TCGA-J4-A83N-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc3cdabd-8915-4d8e-99f6-84a7fa9bd27a 67b19aa7-53d6-481f-9a70-6667a6dfd141 g.chr2:31604515C>T ENST00000379416.3 - 12 1164 c.1116G>A c.(1114-1116)ctG>ctA p.L372L NM_000379.3 NP_000370.2 P47989 XDH_HUMAN xanthine dehydrogenase 372 FAD-binding PCMH-type. purine nucleotide catabolic process|xanthine catabolic process cytosol|extracellular region|peroxisome 2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1) 74 Acute lymphoblastic leukemia(172;0.155) Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163) ACACAAGTGTCAGCTTGGCCC 0.537 4 18 --- --- --- --- NYAP2 57624 broad.mit.edu 37 2 226378223 226378223 + Missense_Mutation SNP T T C TCGA-J4-A83N-01A-11D-A34U-08 TCGA-J4-A83N-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc3cdabd-8915-4d8e-99f6-84a7fa9bd27a 67b19aa7-53d6-481f-9a70-6667a6dfd141 g.chr2:226378223T>C ENST00000272907.6 + 3 771 c.358T>C c.(358-360)Tcc>Ccc p.S120P NYAP2_ENST00000409269.2_Intron NM_020864.1 NP_065915.1 Q9P242 K1486_HUMAN neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2 120 GAGATCACAGTCCCTGCACTC 0.567 3 29 --- --- --- --- KIF1A 547 broad.mit.edu 37 2 241658545 241658545 + Missense_Mutation SNP C C T TCGA-J4-A83N-01A-11D-A34U-08 TCGA-J4-A83N-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc3cdabd-8915-4d8e-99f6-84a7fa9bd27a 67b19aa7-53d6-481f-9a70-6667a6dfd141 g.chr2:241658545C>T ENST00000498729.2 - 47 5338 c.5092G>A c.(5092-5094)Gtg>Atg p.V1698M KIF1A_ENST00000320389.7_Missense_Mutation_p.V1597M NM_001244008.1 NP_001230937.1 Q12756 KIF1A_HUMAN kinesin family member 1A 1597 anterograde axon cargo transport cytoplasm|microtubule|nucleus ATP binding|microtubule motor activity NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1) 66 all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176) CGCACCACCACGAAGCGCCTG 0.632 39 109 --- --- --- --- ATP2B2 491 broad.mit.edu 37 3 10443891 10443891 + Missense_Mutation SNP C C T TCGA-J4-A83N-01A-11D-A34U-08 TCGA-J4-A83N-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc3cdabd-8915-4d8e-99f6-84a7fa9bd27a 67b19aa7-53d6-481f-9a70-6667a6dfd141 g.chr3:10443891C>T ENST00000397077.1 - 6 1114 c.539G>A c.(538-540)cGg>cAg p.R180Q ATP2B2_ENST00000360273.2_Missense_Mutation_p.R180Q|ATP2B2_ENST00000352432.4_Missense_Mutation_p.R180Q|ATP2B2_ENST00000343816.4_Missense_Mutation_p.R180Q|ATP2B2_ENST00000383800.4_Missense_Mutation_p.R180Q Q01814 AT2B2_HUMAN ATPase, Ca++ transporting, plasma membrane 2 180 ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation cytosol|integral to membrane|plasma membrane ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2) 74 CTGCAGGCCCCGGAACTGTTT 0.587 5 139 --- --- --- --- RBM46 166863 broad.mit.edu 37 4 155719382 155719382 + Missense_Mutation SNP T T G TCGA-J4-A83N-01A-11D-A34U-08 TCGA-J4-A83N-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc3cdabd-8915-4d8e-99f6-84a7fa9bd27a 67b19aa7-53d6-481f-9a70-6667a6dfd141 g.chr4:155719382T>G ENST00000510397.1 + 3 750 c.571T>G c.(571-573)Tat>Gat p.Y191D RBM46_ENST00000514866.1_Missense_Mutation_p.Y191D|RBM46_ENST00000281722.3_Missense_Mutation_p.Y191D NM_001277173.1 NP_001264102.1 Q8TBY0 RBM46_HUMAN RNA binding motif protein 46 191 RRM 2. nucleotide binding|RNA binding central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|skin(3)|urinary_tract(2) 26 all_hematologic(180;0.24) Renal(120;0.0854) ATTTGTGGAATATGAATCTCA 0.343 15 34 --- --- --- --- CTNNA1 1495 broad.mit.edu 37 5 138163328 138163328 + Missense_Mutation SNP A A G TCGA-J4-A83N-01A-11D-A34U-08 TCGA-J4-A83N-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc3cdabd-8915-4d8e-99f6-84a7fa9bd27a 67b19aa7-53d6-481f-9a70-6667a6dfd141 g.chr5:138163328A>G ENST00000302763.7 + 7 1073 c.983A>G c.(982-984)gAc>gGc p.D328G CTNNA1_ENST00000355078.5_Missense_Mutation_p.D225G|CTNNA1_ENST00000518825.1_Missense_Mutation_p.D328G NM_001903.2 NP_001894.2 P35221 CTNA1_HUMAN catenin (cadherin-associated protein), alpha 1, 102kDa 328 Interaction with alpha-actinin. adherens junction organization|apical junction assembly|cell adhesion|cellular response to indole-3-methanol|muscle cell differentiation|positive regulation of muscle cell differentiation actin cytoskeleton|catenin complex|cytosol beta-catenin binding|cadherin binding|gamma-catenin binding|structural molecule activity|vinculin binding NS(1)|breast(7)|cervix(2)|endometrium(4)|kidney(6)|large_intestine(16)|lung(9)|oesophagus(2)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1) 52 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325) ACGCGTGATGACCGTCGTGAG 0.567 3 39 --- --- --- --- TBC1D32 221322 broad.mit.edu 37 6 121604993 121604993 + Missense_Mutation SNP C C T TCGA-J4-A83N-01A-11D-A34U-08 TCGA-J4-A83N-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc3cdabd-8915-4d8e-99f6-84a7fa9bd27a 67b19aa7-53d6-481f-9a70-6667a6dfd141 g.chr6:121604993C>T ENST00000275159.6 - 13 1435 c.1436G>A c.(1435-1437)tGt>tAt p.C479Y TBC1D32_ENST00000398212.2_Missense_Mutation_p.C479Y TBC1 domain family, member 32 CATCTTTGGACAACTTGGTGA 0.289 5 26 --- --- --- --- TMEM181 57583 broad.mit.edu 37 6 159046201 159046201 + Silent SNP G G A TCGA-J4-A83N-01A-11D-A34U-08 TCGA-J4-A83N-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc3cdabd-8915-4d8e-99f6-84a7fa9bd27a 67b19aa7-53d6-481f-9a70-6667a6dfd141 g.chr6:159046201G>A ENST00000367090.3 + 12 1442 c.1431G>A c.(1429-1431)gtG>gtA p.V477V NM_020823.1 NP_065874.1 Q9P2C4 TM181_HUMAN transmembrane protein 181 477 pathogenesis integral to membrane toxin binding central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1) 22 Breast(66;0.000776)|Ovarian(120;0.0303) OV - Ovarian serous cystadenocarcinoma(65;8.15e-18)|BRCA - Breast invasive adenocarcinoma(81;1.38e-05) TCTTGATAGTGCGGGCGTGTT 0.537 5 99 --- --- --- --- TRBV4-2 28616 broad.mit.edu 37 7 142045528 142045528 + RNA SNP T T A TCGA-J4-A83N-01A-11D-A34U-08 TCGA-J4-A83N-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc3cdabd-8915-4d8e-99f6-84a7fa9bd27a 67b19aa7-53d6-481f-9a70-6667a6dfd141 g.chr7:142045528T>A ENST00000390392.3 + 0 167 GCAGTCCCCATGGAAACGGGA 0.473 22 96 --- --- --- --- CSPP1 79848 broad.mit.edu 37 8 68087551 68087551 + Silent SNP C C T TCGA-J4-A83N-01A-11D-A34U-08 TCGA-J4-A83N-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc3cdabd-8915-4d8e-99f6-84a7fa9bd27a 67b19aa7-53d6-481f-9a70-6667a6dfd141 g.chr8:68087551C>T ENST00000262210.5 + 24 3005 c.2974C>T c.(2974-2976)Ctg>Ttg p.L992L ARFGEF1_ENST00000520381.1_3'UTR|CSPP1_ENST00000521168.1_3'UTR|CSPP1_ENST00000412460.1_Silent_p.L647L NM_024790.6 NP_079066.5 Q1MSJ5 CSPP1_HUMAN centrosome and spindle pole associated protein 1 1027 centrosome|microtubule|spindle NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1) 49 Breast(64;0.214) Lung NSC(129;0.0908)|all_lung(136;0.152) Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153) ACGAGTTGATCTGAAATTTAT 0.353 12 54 --- --- --- --- SEC31B 25956 broad.mit.edu 37 10 102257878 102257878 + Missense_Mutation SNP C C A TCGA-J4-A83N-01A-11D-A34U-08 TCGA-J4-A83N-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc3cdabd-8915-4d8e-99f6-84a7fa9bd27a 67b19aa7-53d6-481f-9a70-6667a6dfd141 g.chr10:102257878C>A ENST00000370345.3 - 15 1868 c.1771G>T c.(1771-1773)Gat>Tat p.D591Y SEC31B_ENST00000494350.1_5'UTR NM_015490.3 NP_056305.1 Q9NQW1 SC31B_HUMAN SEC31 homolog B (S. cerevisiae) 591 protein transport|vesicle-mediated transport endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1) 36 Colorectal(252;0.117) Epithelial(162;2.36e-10)|all cancers(201;2.09e-08) ATAATGGCATCAGCAAAGCGC 0.557 13 33 --- --- --- --- MGMT 4255 broad.mit.edu 37 10 131506294 131506294 + Silent SNP C C A rs144397748 TCGA-J4-A83N-01A-11D-A34U-08 TCGA-J4-A83N-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc3cdabd-8915-4d8e-99f6-84a7fa9bd27a 67b19aa7-53d6-481f-9a70-6667a6dfd141 g.chr10:131506294C>A ENST00000306010.7 + 3 386 c.354C>A c.(352-354)ccC>ccA p.P118P MGMT_ENST00000462672.1_3'UTR NM_002412.3 NP_002403.2 B4DEE8 B4DEE8_HUMAN O-6-methylguanine-DNA methyltransferase 118 breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 10 all_cancers(35;9.44e-09)|all_epithelial(44;6.98e-08)|Lung NSC(174;0.0157)|all_lung(145;0.0201)|all_neural(114;0.0732)|Colorectal(57;0.0792)|Breast(234;0.167) OV - Ovarian serous cystadenocarcinoma(35;0.00291) TTCACCATCCCGTTTTCCAGC 0.527 Direct reversal of damage 4 84 --- --- --- --- OR5M10 390167 broad.mit.edu 37 11 56344294 56344294 + Missense_Mutation SNP G G C TCGA-J4-A83N-01A-11D-A34U-08 TCGA-J4-A83N-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc3cdabd-8915-4d8e-99f6-84a7fa9bd27a 67b19aa7-53d6-481f-9a70-6667a6dfd141 g.chr11:56344294G>C ENST00000526812.2 - 1 969 c.904C>G c.(904-906)Caa>Gaa p.Q302E NM_001004741.1 NP_001004741.1 Q6IEU7 OR5MA_HUMAN olfactory receptor, family 5, subfamily M, member 10 302 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(2) 25 ATCATTTGTTGTATGGCAAGG 0.378 5 169 --- --- --- --- TBK1 29110 broad.mit.edu 37 12 64890177 64890177 + Missense_Mutation SNP A A G TCGA-J4-A83N-01A-11D-A34U-08 TCGA-J4-A83N-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc3cdabd-8915-4d8e-99f6-84a7fa9bd27a 67b19aa7-53d6-481f-9a70-6667a6dfd141 g.chr12:64890177A>G ENST00000331710.5 + 16 2090 c.1751A>G c.(1750-1752)aAa>aGa p.K584R NM_013254.3 NP_037386.1 Q9UHD2 TBK1_HUMAN TANK-binding kinase 1 584 I-kappaB kinase/NF-kappaB cascade|innate immune response|interspecies interaction between organisms|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of transcription from RNA polymerase II promoter|response to virus|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|endosome membrane|plasma membrane ATP binding|phosphoprotein binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1) 20 GBM - Glioblastoma multiforme(28;0.0386) CAAATCCACAAATTTGATAAG 0.214 3 69 --- --- --- --- MAP3K3 4215 broad.mit.edu 37 17 61744336 61744336 + Missense_Mutation SNP G G T TCGA-J4-A83N-01A-11D-A34U-08 TCGA-J4-A83N-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc3cdabd-8915-4d8e-99f6-84a7fa9bd27a 67b19aa7-53d6-481f-9a70-6667a6dfd141 g.chr17:61744336G>T ENST00000361357.3 + 7 829 c.511G>T c.(511-513)Gtg>Ttg p.V171L MAP3K3_ENST00000577395.1_Missense_Mutation_p.V140L|MAP3K3_ENST00000584573.1_Missense_Mutation_p.V171L|MAP3K3_ENST00000361733.3_Missense_Mutation_p.V140L|MAP3K3_ENST00000579585.1_Missense_Mutation_p.V171L NM_203351.1 NP_976226.1 Q99759 M3K3_HUMAN mitogen-activated protein kinase kinase kinase 3 140 MAPKKK cascade|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autophosphorylation cytosol ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 28 GTCCAGACAGGTGCGGATCAA 0.517 3 39 --- --- --- --- SLC35E1 79939 broad.mit.edu 37 19 16664533 16664533 + Missense_Mutation SNP T T C TCGA-J4-A83N-01A-11D-A34U-08 TCGA-J4-A83N-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc3cdabd-8915-4d8e-99f6-84a7fa9bd27a 67b19aa7-53d6-481f-9a70-6667a6dfd141 g.chr19:16664533T>C ENST00000595753.1 - 6 1207 c.1190A>G c.(1189-1191)cAg>cGg p.Q397R CTD-3222D19.2_ENST00000409035.1_Intron NM_024881.4 NP_079157.3 Q96K37 S35E1_HUMAN solute carrier family 35, member E1 397 transport integral to membrane central_nervous_system(1)|endometrium(3)|large_intestine(7)|liver(1)|lung(2)|ovary(1) 15 TGGGTAGCTCTGCCGGCTGTA 0.562 5 103 --- --- --- --- GPCPD1 56261 broad.mit.edu 37 20 5556578 5556578 + Missense_Mutation SNP T T C TCGA-J4-A83N-01A-11D-A34U-08 TCGA-J4-A83N-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc3cdabd-8915-4d8e-99f6-84a7fa9bd27a 67b19aa7-53d6-481f-9a70-6667a6dfd141 g.chr20:5556578T>C ENST00000379019.4 - 9 964 c.752A>G c.(751-753)cAt>cGt p.H251R GPCPD1_ENST00000481038.1_5'UTR NM_019593.3 NP_062539.1 Q9NPB8 GPCP1_HUMAN glycerophosphocholine phosphodiesterase GDE1 homolog (S. cerevisiae) 251 glycerol metabolic process|lipid metabolic process carbohydrate binding|glycerophosphodiester phosphodiesterase activity breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|skin(1) 16 TGTACCCACATGTCCAGGAAG 0.398 12 28 --- --- --- --- HCK 3055 broad.mit.edu 37 20 30681780 30681780 + Missense_Mutation SNP G G A TCGA-J4-A83N-01A-11D-A34U-08 TCGA-J4-A83N-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc3cdabd-8915-4d8e-99f6-84a7fa9bd27a 67b19aa7-53d6-481f-9a70-6667a6dfd141 g.chr20:30681780G>A ENST00000534862.1 + 12 1510 c.1147G>A c.(1147-1149)Gcc>Acc p.A383T HCK_ENST00000518730.1_Missense_Mutation_p.A381T|HCK_ENST00000375862.2_Missense_Mutation_p.A402T|HCK_ENST00000520553.1_Missense_Mutation_p.A382T|HCK_ENST00000538448.1_Missense_Mutation_p.A382T|HCK_ENST00000375852.2_Missense_Mutation_p.A403T NM_001172132.1 NP_001165603.1 P08631 HCK_HUMAN hemopoietic cell kinase 403 Protein kinase. interspecies interaction between organisms|mesoderm development|regulation of defense response to virus by virus|viral reproduction caveola|cytosol ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(4) 36 UCEC - Uterine corpus endometrioid carcinoma (5;0.0241) CTTTGGCCTGGCCCGGGTCAT 0.567 25 36 --- --- --- --- CCDC73 493860 broad.mit.edu 37 11 32697164 32697164 + Frame_Shift_Del DEL T T - TCGA-J4-A83N-01A-11D-A34U-08 TCGA-J4-A83N-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc3cdabd-8915-4d8e-99f6-84a7fa9bd27a 67b19aa7-53d6-481f-9a70-6667a6dfd141 g.chr11:32697164delT ENST00000335185.5 - 9 635 c.592delA c.(592-594)agafs p.R198fs CCDC73_ENST00000534415.1_5'UTR NM_001008391.2 NP_001008392.2 Q6ZRK6 CCD73_HUMAN coiled-coil domain containing 73 198 NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 51 Breast(20;0.112) GCTGAAAGTCTTTTGTTTGAT 0.259 24 44 --- --- --- ---