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 C17orf80 55028 broad.mit.edu 37 17 71232151 71232151 + Missense_Mutation SNP C C T TCGA-ZG-A9L0-01A-11D-A41K-08 TCGA-ZG-A9L0-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed594b57-98b2-4fcf-b6a4-e507919e6b7d b1de224d-ae13-4f56-813c-4326b207e7ac g.chr17:71232151C>T ENST00000359042.2 + 3 724 c.530C>T c.(529-531)tCa>tTa p.S177L FAM104A_ENST00000583178.1_Intron|C17orf80_ENST00000268942.8_Missense_Mutation_p.S177L|C17orf80_ENST00000577615.1_Missense_Mutation_p.S177L|C17orf80_ENST00000582793.1_Intron|C17orf80_ENST00000426147.2_Missense_Mutation_p.S177L|C17orf80_ENST00000535032.2_Missense_Mutation_p.S177L|C17orf80_ENST00000255557.4_Missense_Mutation_p.S177L NM_017941.4 NP_060411.2 Q9BSJ5 CQ080_HUMAN chromosome 17 open reading frame 80 177 integral to membrane kidney(1)|large_intestine(5)|lung(2)|skin(2)|stomach(2)|urinary_tract(2) 14 LUSC - Lung squamous cell carcinoma(166;0.197) CTGGTTGGCTCAATAGAACCT 0.378000 11 59 0 0 1 0 0 RP11-467H10.2 0 broad.mit.edu 37 7 76681226 76681226 + RNA SNP G G C TCGA-ZG-A9L0-01A-11D-A41K-08 TCGA-ZG-A9L0-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed594b57-98b2-4fcf-b6a4-e507919e6b7d b1de224d-ae13-4f56-813c-4326b207e7ac g.chr7:76681226G>C ENST00000459742.1 + 0 58 TGTCACACTTGAAGGAGGCAG 0.453000 2 5 0 0 1 0 0 GPR115 221393 broad.mit.edu 37 6 47682675 47682675 + Missense_Mutation SNP C C T rs140641930 byFrequency TCGA-ZG-A9L0-01A-11D-A41K-08 TCGA-ZG-A9L0-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed594b57-98b2-4fcf-b6a4-e507919e6b7d b1de224d-ae13-4f56-813c-4326b207e7ac g.chr6:47682675C>T ENST00000283303.2 + 6 1952 c.1694C>T c.(1693-1695)cCg>cTg p.P565L GPR115_ENST00000327753.3_Missense_Mutation_p.P565L|GPR115_ENST00000371220.1_Missense_Mutation_p.P622L NM_153838.3 NP_722580.3 Q8IZF3 GP115_HUMAN G protein-coupled receptor 115 565 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 52 TTTGCCATCCCGGCGTTCGTC 0.488000 38 76 0 0 1 0 0 ZNF57 126295 broad.mit.edu 37 19 2917857 2917857 + Missense_Mutation SNP C C T rs148390269 TCGA-ZG-A9L0-01A-11D-A41K-08 TCGA-ZG-A9L0-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed594b57-98b2-4fcf-b6a4-e507919e6b7d b1de224d-ae13-4f56-813c-4326b207e7ac g.chr19:2917857C>T ENST00000306908.5 + 4 1386 c.1238C>T c.(1237-1239)aCg>aTg p.T413M ZNF57_ENST00000523428.1_Missense_Mutation_p.T381M|AC006277.2_ENST00000520090.2_RNA NM_173480.2 NP_775751.1 Q68EA5 ZNF57_HUMAN zinc finger protein 57 413 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|GBM - Glioblastoma multiforme(1328;0.00161)|STAD - Stomach adenocarcinoma(1328;0.18) CATTTGAGGACGCACACTGGA 0.438000 5 79 0 0 1 0 0 R3HDML 140902 broad.mit.edu 37 20 42972025 42972025 + Missense_Mutation SNP C C A TCGA-ZG-A9L0-01A-11D-A41K-08 TCGA-ZG-A9L0-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed594b57-98b2-4fcf-b6a4-e507919e6b7d b1de224d-ae13-4f56-813c-4326b207e7ac g.chr20:42972025C>A ENST00000217043.2 + 3 561 c.389C>A c.(388-390)tCc>tAc p.S130Y NM_178491.2 NP_848586.1 Q9H3Y0 CRSPL_HUMAN R3H domain containing-like 130 extracellular region peptidase inhibitor activity NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14) 21 Myeloproliferative disorder(115;0.028) COAD - Colon adenocarcinoma(18;0.00189) AGGTACCGGTCCGTAGTGGAT 0.597000 4 42 1 1 1 1 0 PCDHB15 0 broad.mit.edu 37 5 140625165 140625165 + Missense_Mutation SNP C C T rs147410183 TCGA-ZG-A9L0-01A-11D-A41K-08 TCGA-ZG-A9L0-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed594b57-98b2-4fcf-b6a4-e507919e6b7d b1de224d-ae13-4f56-813c-4326b207e7ac g.chr5:140625165C>T ENST00000231173.3 + 1 19 c.19C>T c.(19-21)Cgc>Tgc p.R7C NM_018935.2 NP_061758.1 Q9Y5E8 PCDBF_HUMAN 7 homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2) 61 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TGCAGGGGAGCGCTTTCCCGA 0.537000 12 21 0 0 1 0 0 MST1 4485 broad.mit.edu 37 3 49721883 49721883 + Missense_Mutation SNP G G T TCGA-ZG-A9L0-01A-11D-A41K-08 TCGA-ZG-A9L0-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed594b57-98b2-4fcf-b6a4-e507919e6b7d b1de224d-ae13-4f56-813c-4326b207e7ac g.chr3:49721883G>T ENST00000449682.2 - 17 2241 c.1880C>A c.(1879-1881)aCg>aAg p.T627K NM_020998.3 NP_066278.3 P26927 HGFL_HUMAN macrophage stimulating 1 (hepatocyte growth factor-like) 613 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2) 41 BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) GTCATTACCCGTACCTGCAGT 0.577000 5 77 0.014758 0.0158718 1 1 0 IFT52 51098 broad.mit.edu 37 20 42242496 42242496 + Silent SNP C C A TCGA-ZG-A9L0-01A-11D-A41K-08 TCGA-ZG-A9L0-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed594b57-98b2-4fcf-b6a4-e507919e6b7d b1de224d-ae13-4f56-813c-4326b207e7ac g.chr20:42242496C>A ENST00000373030.3 + 7 622 c.492C>A c.(490-492)ctC>ctA p.L164L IFT52_ENST00000373039.4_Silent_p.L164L NM_016004.2 NP_057088.2 Q9Y366 IFT52_HUMAN intraflagellar transport 52 homolog (Chlamydomonas) 164 intraflagellar transport particle B|microtubule-based flagellum protein C-terminus binding endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|urinary_tract(1) 21 Myeloproliferative disorder(115;0.00452) COAD - Colon adenocarcinoma(18;0.0031) ACAGGGCTCTCACCTTTGTGT 0.363000 9 71 1.76689e-08 2.14283e-08 1 1 0 DNMT3B 1789 broad.mit.edu 37 20 31386422 31386422 + Missense_Mutation SNP C C A TCGA-ZG-A9L0-01A-11D-A41K-08 TCGA-ZG-A9L0-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed594b57-98b2-4fcf-b6a4-e507919e6b7d b1de224d-ae13-4f56-813c-4326b207e7ac g.chr20:31386422C>A ENST00000328111.2 + 15 1968 c.1647C>A c.(1645-1647)ttC>ttA p.F549L DNMT3B_ENST00000456297.2_Missense_Mutation_p.F453L|DNMT3B_ENST00000353855.2_Missense_Mutation_p.F529L|DNMT3B_ENST00000348286.2_Missense_Mutation_p.F529L|DNMT3B_ENST00000201963.3_Missense_Mutation_p.F541L|DNMT3B_ENST00000375623.4_3'UTR|DNMT3B_ENST00000443239.3_Missense_Mutation_p.F487L|DNMT3B_ENST00000344505.4_Missense_Mutation_p.F529L NM_006892.3 NP_008823.1 Q9UBC3 DNM3B_HUMAN DNA (cytosine-5-)-methyltransferase 3 beta 549 ADD. negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation metal ion binding|protein binding|transcription corepressor activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 TGCAGGCCTTCTTCACCAGTG 0.607000 6 36 0.217242 0.225142 1 1 0 SERPINA3 12 broad.mit.edu 37 14 95081101 95081101 + Missense_Mutation SNP C C T TCGA-ZG-A9L0-01A-11D-A41K-08 TCGA-ZG-A9L0-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed594b57-98b2-4fcf-b6a4-e507919e6b7d b1de224d-ae13-4f56-813c-4326b207e7ac g.chr14:95081101C>T ENST00000553947.1 + 5 1286 c.398C>T c.(397-399)aCg>aTg p.T133M SERPINA3_ENST00000393078.3_Missense_Mutation_p.T108M|SERPINA3_ENST00000556388.1_Intron|SERPINA3_ENST00000467132.1_Missense_Mutation_p.T108M|SERPINA3_ENST00000393080.4_Missense_Mutation_p.T108M P01011 AACT_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3 108 acute-phase response|maintenance of gastrointestinal epithelium|regulation of lipid metabolic process|regulation of proteolysis extracellular region|nucleus DNA binding|protein binding|serine-type endopeptidase inhibitor activity p.T108M(1) NS(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(17)|ovary(2)|pancreas(1)|skin(3)|stomach(1) 40 all_cancers(154;0.0525)|all_epithelial(191;0.179) COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228) TTCAACCTCACGGAGACTTCT 0.552000 28 32 0 0 1 0 0 FBXO45 200933 broad.mit.edu 37 3 196311181 196311181 + Missense_Mutation SNP G G T TCGA-ZG-A9L0-01A-11D-A41K-08 TCGA-ZG-A9L0-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed594b57-98b2-4fcf-b6a4-e507919e6b7d b1de224d-ae13-4f56-813c-4326b207e7ac g.chr3:196311181G>T ENST00000311630.6 + 3 1150 c.853G>T c.(853-855)Gac>Tac p.D285Y FBXO45_ENST00000440469.1_Missense_Mutation_p.D106Y NM_001105573.1 NP_001099043.1 P0C2W1 FBSP1_HUMAN F-box protein 45 285 nervous system development|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus cell junction|postsynaptic membrane|presynaptic membrane protein binding cervix(1)|kidney(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1) 7 all_cancers(143;8.88e-09)|Ovarian(172;0.0634)|Breast(254;0.135) Epithelial(36;2.75e-23)|all cancers(36;2.47e-21)|OV - Ovarian serous cystadenocarcinoma(49;2.32e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00314) AAAACCTTTGGACGGATGACA 0.448000 12 24 1.61879e-10 2.00589e-10 1 1 0 C3orf17 25871 broad.mit.edu 37 3 112732171 112732171 + Nonsense_Mutation SNP C C A TCGA-ZG-A9L0-01A-11D-A41K-08 TCGA-ZG-A9L0-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed594b57-98b2-4fcf-b6a4-e507919e6b7d b1de224d-ae13-4f56-813c-4326b207e7ac g.chr3:112732171C>A ENST00000314400.5 - 4 612 c.421G>T c.(421-423)Gga>Tga p.G141* C3orf17_ENST00000393857.2_Nonsense_Mutation_p.G5*|C3orf17_ENST00000383675.2_Intron NM_015412.3 NP_056227.2 Q6NW34 CC017_HUMAN chromosome 3 open reading frame 17 141 integral to membrane central_nervous_system(1)|endometrium(1)|kidney(2)|lung(6)|prostate(2)|skin(1) 13 TTGCAGGCTCCCAAAACCTTC 0.398000 4 71 0.000602214 0.000673063 1 1 0 ZNF117 51351 broad.mit.edu 37 7 64438887 64438887 + Silent SNP A A G TCGA-ZG-A9L0-01A-11D-A41K-08 TCGA-ZG-A9L0-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed594b57-98b2-4fcf-b6a4-e507919e6b7d b1de224d-ae13-4f56-813c-4326b207e7ac g.chr7:64438887A>G ENST00000282869.5 - 4 2346 c.1062T>C c.(1060-1062)atT>atC p.I354I NM_015852.3 NP_056936.2 Q03924 ZN117_HUMAN zinc finger protein 117 354 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(1)|skin(1) 22 Lung NSC(55;0.0295)|all_lung(88;0.0691) CTCCAGTATGAATTACCTTAT 0.388000 7 106 0 0 1 0 0 MTMR14 64419 broad.mit.edu 37 3 9712766 9712766 + Missense_Mutation SNP G G A TCGA-ZG-A9L0-01A-11D-A41K-08 TCGA-ZG-A9L0-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed594b57-98b2-4fcf-b6a4-e507919e6b7d b1de224d-ae13-4f56-813c-4326b207e7ac g.chr3:9712766G>A ENST00000296003.4 + 6 711 c.589G>A c.(589-591)Ggc>Agc p.G197S MTMR14_ENST00000420925.1_Intron|MTMR14_ENST00000353332.5_Missense_Mutation_p.G197S|MTMR14_ENST00000351233.5_Missense_Mutation_p.G197S NM_001077525.2 NP_001070993.1 Q8NCE2 MTMRE_HUMAN myotubularin related protein 14 197 perinuclear region of cytoplasm|ruffle phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity breast(1)|endometrium(3)|kidney(2)|lung(10)|skin(3)|upper_aerodigestive_tract(2) 21 Medulloblastoma(99;0.227) TAAGGTCAGAGGCTATGACAT 0.468000 4 104 0 0 1 0 0 ZFP36 7538 broad.mit.edu 37 19 39899003 39899003 + Silent SNP C C G rs149138506 TCGA-ZG-A9L0-01A-11D-A41K-08 TCGA-ZG-A9L0-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed594b57-98b2-4fcf-b6a4-e507919e6b7d b1de224d-ae13-4f56-813c-4326b207e7ac g.chr19:39899003C>G ENST00000597629.1 + 2 737 c.663C>G c.(661-663)ccC>ccG p.P221P ZFP36_ENST00000248673.3_Silent_p.P215P P26651 TTP_HUMAN ZFP36 ring finger protein 215 positive regulation of nuclear-transcribed mRNA poly(A) tail shortening cytosol|nucleus AU-rich element binding|DNA binding|mRNA binding|protein binding|single-stranded RNA binding|zinc ion binding large_intestine(1)|lung(5)|pancreas(1) 7 all_cancers(60;6.54e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.53e-06)|Ovarian(47;0.0512) Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657) CCTTCTCGCCCTCCAGCTCCC 0.692000 42 72 0 0 1 0 0 CCNK 8812 broad.mit.edu 37 14 99969193 99969193 + Missense_Mutation SNP C C G TCGA-ZG-A9L0-01A-11D-A41K-08 TCGA-ZG-A9L0-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed594b57-98b2-4fcf-b6a4-e507919e6b7d b1de224d-ae13-4f56-813c-4326b207e7ac g.chr14:99969193C>G ENST00000389879.5 + 8 1006 c.883C>G c.(883-885)Caa>Gaa p.Q295E CCNK_ENST00000555049.1_Missense_Mutation_p.Q295E NM_001099402.1 NP_001092872.1 O75909 CCNK_HUMAN cyclin K 295 cell division|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter protein kinase binding NS(1)|endometrium(2)|lung(3) 6 all_cancers(154;0.224)|all_epithelial(191;0.0643)|Melanoma(154;0.0866) ACAGCCGTCTCAAAGCTCCGA 0.602000 14 37 0 0 1 0 0 ZNF479 90827 broad.mit.edu 37 7 57187780 57187780 + Missense_Mutation SNP A A C TCGA-ZG-A9L0-01A-11D-A41K-08 TCGA-ZG-A9L0-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed594b57-98b2-4fcf-b6a4-e507919e6b7d b1de224d-ae13-4f56-813c-4326b207e7ac g.chr7:57187780A>C ENST00000331162.4 - 5 1612 c.1342T>G c.(1342-1344)Tta>Gta p.L448V NM_033273.1 NP_150376.1 Q96JC4 ZN479_HUMAN zinc finger protein 479 448 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 84 GBM - Glioblastoma multiforme(1;9.18e-12) GTTGAGGATAAGCTAAAGGCT 0.438000 5 154 0 0 1 0 0 MYH9 4627 broad.mit.edu 37 22 36715609 36715609 + Nonsense_Mutation SNP G G A TCGA-ZG-A9L0-01A-11D-A41K-08 TCGA-ZG-A9L0-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed594b57-98b2-4fcf-b6a4-e507919e6b7d b1de224d-ae13-4f56-813c-4326b207e7ac g.chr22:36715609G>A ENST00000216181.5 - 10 1314 c.1084C>T c.(1084-1086)Cag>Tag p.Q362* NM_002473.4 NP_002464.1 P35579 MYH9_HUMAN myosin, heavy chain 9, non-muscle 362 Myosin head-like. actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3) 86 ATGGACGCCTGGTCAGTGTTC 0.577000 T ALK ALCL """Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome""" Hereditary Macrothrombocytopenia, MYH9-associated 8 22 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7574003 7574003 + Nonsense_Mutation SNP G G A TCGA-ZG-A9L0-01A-11D-A41K-08 TCGA-ZG-A9L0-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed594b57-98b2-4fcf-b6a4-e507919e6b7d b1de224d-ae13-4f56-813c-4326b207e7ac g.chr17:7574003G>A ENST00000269305.4 - 10 1213 c.1024C>T c.(1024-1026)Cga>Tga p.R342* TP53_ENST00000420246.2_3'UTR|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Nonsense_Mutation_p.R342*|TP53_ENST00000359597.4_Intron|TP53_ENST00000455263.2_3'UTR NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1 NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1 P04637 P53_HUMAN tumor protein p53 342 Interaction with CARM1.|Interaction with HIPK1 (By similarity).|Interaction with HIPK2.|Oligomerization. R -> L (in a sporadic cancer; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (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.R342*(70)|p.0?(8)|p.R342fs*3(8)|p.?(1)|p.R342_N345delRELN(1)|p.I332fs*5(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) TTCAGCTCTCGGAACATCTCG 0.557000 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) 8 10 0 0 1 0 0 RAI14 26064 broad.mit.edu 37 5 34796092 34796092 + Missense_Mutation SNP G G T TCGA-ZG-A9L0-01A-11D-A41K-08 TCGA-ZG-A9L0-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed594b57-98b2-4fcf-b6a4-e507919e6b7d b1de224d-ae13-4f56-813c-4326b207e7ac g.chr5:34796092G>T ENST00000265109.3 + 4 503 c.216G>T c.(214-216)atG>atT p.M72I RAI14_ENST00000428746.2_Missense_Mutation_p.M72I|RAI14_ENST00000503673.1_Missense_Mutation_p.M72I|RAI14_ENST00000512629.1_Missense_Mutation_p.M72I|RAI14_ENST00000507276.1_3'UTR|RAI14_ENST00000506376.1_Missense_Mutation_p.M64I|RAI14_ENST00000397449.1_Missense_Mutation_p.M65I|RAI14_ENST00000515799.1_Missense_Mutation_p.M75I NM_001145522.1|NM_015577.2 NP_001138994.1|NP_056392.2 Q9P0K7 RAI14_HUMAN retinoic acid induced 14 72 cell cortex|cytoskeleton protein binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 56 all_lung(31;0.000191) TCAGGGTCATGATTACACATG 0.428000 5 116 2.0095e-06 2.29083e-06 1 1 0 OR2M4 26245 broad.mit.edu 37 1 248402787 248402787 + Missense_Mutation SNP C C A TCGA-ZG-A9L0-01A-11D-A41K-08 TCGA-ZG-A9L0-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed594b57-98b2-4fcf-b6a4-e507919e6b7d b1de224d-ae13-4f56-813c-4326b207e7ac g.chr1:248402787C>A ENST00000306687.1 + 1 557 c.557C>A c.(556-558)cCt>cAt p.P186H NM_017504.1 NP_059974.1 Q96R27 OR2M4_HUMAN olfactory receptor, family 2, subfamily M, member 4 186 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(27)|skin(3)|upper_aerodigestive_tract(2) 50 all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0245) GCCCTTTTACCTCTATCCTGC 0.398000 13 122 1.3612e-06 1.58344e-06 1 1 0 NARFL 64428 broad.mit.edu 37 16 784748 784748 + Missense_Mutation SNP G G C TCGA-ZG-A9L0-01A-11D-A41K-08 TCGA-ZG-A9L0-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed594b57-98b2-4fcf-b6a4-e507919e6b7d b1de224d-ae13-4f56-813c-4326b207e7ac g.chr16:784748G>C ENST00000540986.1 - 4 1692 c.257C>G c.(256-258)tCt>tGt p.S86C NARFL_ENST00000301694.5_Missense_Mutation_p.L144V|NARFL_ENST00000251588.2_Missense_Mutation_p.S188C|NARFL_ENST00000568545.1_Missense_Mutation_p.S86C|HAGHL_ENST00000569604.1_3'UTR Q9H6Q4 NARFL_HUMAN nuclear prelamin A recognition factor-like 188 iron-sulfur cluster assembly|oxygen homeostasis|regulation of transcription, DNA-dependent|response to hypoxia 4 iron, 4 sulfur cluster binding|metal ion binding autonomic_ganglia(1)|large_intestine(1)|lung(7) 9 Hepatocellular(780;0.0218) TGGGCAGGCAGAGGCCAGCAG 0.607000 42 50 0 0 1 0 0 ZNF800 168850 broad.mit.edu 37 7 127013781 127013781 + Missense_Mutation SNP G G A TCGA-ZG-A9L0-01A-11D-A41K-08 TCGA-ZG-A9L0-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed594b57-98b2-4fcf-b6a4-e507919e6b7d b1de224d-ae13-4f56-813c-4326b207e7ac g.chr7:127013781G>A ENST00000393313.1 - 5 2200 c.1609C>T c.(1609-1611)Cat>Tat p.H537Y ZNF800_ENST00000393312.1_Missense_Mutation_p.H537Y|ZNF800_ENST00000265827.3_Missense_Mutation_p.H537Y Q2TB10 ZN800_HUMAN zinc finger protein 800 537 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(8)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 32 ACAGTTATATGTCGTATCACA 0.348000 47 56 0 0 1 0 0 ZNF695 57116 broad.mit.edu 37 1 247150485 247150485 + Silent SNP A A C TCGA-ZG-A9L0-01A-11D-A41K-08 TCGA-ZG-A9L0-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed594b57-98b2-4fcf-b6a4-e507919e6b7d b1de224d-ae13-4f56-813c-4326b207e7ac g.chr1:247150485A>C ENST00000339986.7 - 4 1479 c.1332T>G c.(1330-1332)gcT>gcG p.A444A ZNF695_ENST00000498046.2_Intron|ZNF695_ENST00000487338.2_Intron NM_020394.4 NP_065127.4 Q8IW36 ZN695_HUMAN zinc finger protein 695 444 regulation of transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding endometrium(1)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1) 13 all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518) all_cancers(173;0.0266) OV - Ovarian serous cystadenocarcinoma(106;0.00271) ACCAGTTAAAAGCTTTGCCAC 0.383000 17 35 0 0 1 0 0 RMI1 80010 broad.mit.edu 37 9 86615978 86615978 + Missense_Mutation SNP G G C TCGA-ZG-A9L0-01A-11D-A41K-08 TCGA-ZG-A9L0-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed594b57-98b2-4fcf-b6a4-e507919e6b7d b1de224d-ae13-4f56-813c-4326b207e7ac g.chr9:86615978G>C ENST00000325875.3 + 3 409 c.77G>C c.(76-78)tGg>tCg p.W26S NM_024945.2 NP_079221.2 Q9H9A7 RMI1_HUMAN RecQ mediated genome instability 1 26 DNA replication nucleus biliary_tract(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 18 CCTCCGATGTGGCTGGAAGCT 0.348000 4 105 0 0 1 0 0 PPP1R12A 4659 broad.mit.edu 37 12 80182523 80182523 + Missense_Mutation SNP A A C TCGA-ZG-A9L0-01A-11D-A41K-08 TCGA-ZG-A9L0-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed594b57-98b2-4fcf-b6a4-e507919e6b7d b1de224d-ae13-4f56-813c-4326b207e7ac g.chr12:80182523A>C ENST00000450142.2 - 21 2973 c.2707T>G c.(2707-2709)Tcc>Gcc p.S903A PPP1R12A_ENST00000546369.1_Missense_Mutation_p.S816A|PPP1R12A_ENST00000261207.5_Missense_Mutation_p.S903A|PPP1R12A_ENST00000550107.1_Missense_Mutation_p.S847A|PPP1R12A_ENST00000437004.2_Missense_Mutation_p.S903A NM_002480.2 NP_002471.1 O14974 MYPT1_HUMAN protein phosphatase 1, regulatory subunit 12A 903 contractile fiber protein binding|signal transducer activity breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|liver(1)|lung(4)|ovary(2)|skin(1) 29 CCCAGCAAGGAATCATATCGA 0.343000 12 20 0 0 1 0 0 ITM2A 9452 broad.mit.edu 37 X 78619050 78619050 + Splice_Site SNP T T C TCGA-ZG-A9L0-01A-11D-A41K-08 TCGA-ZG-A9L0-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed594b57-98b2-4fcf-b6a4-e507919e6b7d b1de224d-ae13-4f56-813c-4326b207e7ac g.chrX:78619050T>C ENST00000373298.2 - 2 256 c.111_splice c.e2-1 p.E38_splice ITM2A_ENST00000469541.1_5'UTR|ITM2A_ENST00000434584.2_Intron NM_004867.4 NP_004858.1 O43736 ITM2A_HUMAN integral membrane protein 2A 38 integral to membrane protein binding breast(1)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 18 AACTCGGAGCTCCTATTTATT 0.398000 20 10 0 0 1 0 0 SLC4A3 6508 broad.mit.edu 37 2 220504357 220504357 + Silent SNP G G A rs138004203 TCGA-ZG-A9L0-01A-11D-A41K-08 TCGA-ZG-A9L0-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed594b57-98b2-4fcf-b6a4-e507919e6b7d b1de224d-ae13-4f56-813c-4326b207e7ac g.chr2:220504357G>A ENST00000358055.3 + 20 3689 c.3177G>A c.(3175-3177)gcG>gcA p.A1059A SLC4A3_ENST00000373760.2_Silent_p.A1059A|SLC4A3_ENST00000317151.3_Silent_p.A1059A|SLC4A3_ENST00000273063.6_Silent_p.A1086A|SLC4A3_ENST00000373762.3_Silent_p.A1086A P48751 B3A3_HUMAN solute carrier family 4 (anion exchanger), member 3 1059 Membrane (anion exchange). bicarbonate transport integral to plasma membrane|membrane fraction inorganic anion exchanger activity p.A1086A(1) breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2) 51 Renal(207;0.0183) Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) ATGTCAATGCGTTGACAGTGA 0.652000 12 43 0 0 1 0 0 EIF4G3 8672 broad.mit.edu 37 1 21188821 21188821 + Missense_Mutation SNP C C T TCGA-ZG-A9L0-01A-11D-A41K-08 TCGA-ZG-A9L0-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed594b57-98b2-4fcf-b6a4-e507919e6b7d b1de224d-ae13-4f56-813c-4326b207e7ac g.chr1:21188821C>T ENST00000602326.1 - 21 3444 c.2861G>A c.(2860-2862)cGt>cAt p.R954H EIF4G3_ENST00000400422.1_Missense_Mutation_p.R948H|EIF4G3_ENST00000536266.1_Missense_Mutation_p.R552H|EIF4G3_ENST00000374935.3_Missense_Mutation_p.R668H|EIF4G3_ENST00000374937.3_Missense_Mutation_p.R954H|EIF4G3_ENST00000264211.8_Missense_Mutation_p.R948H|EIF4G3_ENST00000537738.1_Missense_Mutation_p.R438H NM_001198802.1 NP_001185731.1 O43432 IF4G3_HUMAN eukaryotic translation initiation factor 4 gamma, 3 948 MIF4G.|eIF3/EIF4A-binding (By similarity). interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process eukaryotic translation initiation factor 4F complex protein binding|RNA cap binding|translation initiation factor activity endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3) 70 all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256) UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191) CTGGTCCATACGTGGCTGCAA 0.328000 16 47 0 0 1 0 0 BRAT1 221927 broad.mit.edu 37 7 2582851 2582851 + Missense_Mutation SNP T T G TCGA-ZG-A9L0-01A-11D-A41K-08 TCGA-ZG-A9L0-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed594b57-98b2-4fcf-b6a4-e507919e6b7d b1de224d-ae13-4f56-813c-4326b207e7ac g.chr7:2582851T>G ENST00000340611.4 - 6 1166 c.910A>C c.(910-912)Aag>Cag p.K304Q NM_152743.3 NP_689956.2 Q6PJG6 BRAT1_HUMAN BRCA1-associated ATM activator 1 304 response to ionizing radiation nucleus protein binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1) 23 TGCTCGAGCTTCAGGATCCCC 0.652000 14 47 0 0 1 0 0 SLC6A10P 0 broad.mit.edu 37 16 32890622 32890622 + RNA SNP T T G TCGA-ZG-A9L0-01A-11D-A41K-08 TCGA-ZG-A9L0-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed594b57-98b2-4fcf-b6a4-e507919e6b7d b1de224d-ae13-4f56-813c-4326b207e7ac g.chr16:32890622T>G ENST00000330048.5 - 0 3176 NR_003083.2 CGTTGGTGTTTTTGTAGACCA 0.617000 3 31 0 0 1 0 0 ZNRD1-AS1 0 broad.mit.edu 37 6 29977377 29977377 + RNA SNP C C G TCGA-ZG-A9L0-01A-11D-A41K-08 TCGA-ZG-A9L0-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed594b57-98b2-4fcf-b6a4-e507919e6b7d b1de224d-ae13-4f56-813c-4326b207e7ac g.chr6:29977377C>G ENST00000376797.3 - 0 731 ZNRD1-AS1_ENST00000420251.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA|HLA-J_ENST00000462773.1_RNA TTTGTGACTTCAAGAACCCTG 0.458000 3 38 0 0 1 0 0 HELZ 9931 broad.mit.edu 37 17 65083153 65083153 + Silent SNP G G A TCGA-ZG-A9L0-01A-11D-A41K-08 TCGA-ZG-A9L0-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed594b57-98b2-4fcf-b6a4-e507919e6b7d b1de224d-ae13-4f56-813c-4326b207e7ac g.chr17:65083153G>A ENST00000358691.5 - 32 5452 c.5286C>T c.(5284-5286)atC>atT p.I1762I HELZ_ENST00000580168.1_Silent_p.I1763I NM_014877.3 NP_055692.2 helicase with zinc finger NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13) AGCTAGATGAGATTCTTCTTT 0.443000 8 35 0 0 1 0 0 CYP2C18 1562 broad.mit.edu 37 10 96448025 96448025 + Missense_Mutation SNP A A C TCGA-ZG-A9L0-01A-11D-A41K-08 TCGA-ZG-A9L0-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed594b57-98b2-4fcf-b6a4-e507919e6b7d b1de224d-ae13-4f56-813c-4326b207e7ac g.chr10:96448025A>C ENST00000285979.6 + 3 674 c.475A>C c.(475-477)Acc>Ccc p.T159P CYP2C18_ENST00000339022.5_Missense_Mutation_p.T159P|CYP2C19_ENST00000464755.1_3'UTR NM_000772.2 NP_000763.1 cytochrome P450, family 2, subfamily C, polypeptide 18 p.T159P(1) NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 26 Colorectal(252;0.09) all cancers(201;2.8e-06)|KIRC - Kidney renal clear cell carcinoma(50;0.0646)|Kidney(138;0.0805) GTTGAGAAAAACCAATGGTGG 0.383000 44 49 0 0 1 0 0 R3HDML 140902 broad.mit.edu 37 20 42972036 42972036 + Missense_Mutation SNP C C A TCGA-ZG-A9L0-01A-11D-A41K-08 TCGA-ZG-A9L0-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed594b57-98b2-4fcf-b6a4-e507919e6b7d b1de224d-ae13-4f56-813c-4326b207e7ac g.chr20:42972036C>A ENST00000217043.2 + 3 572 c.400C>A c.(400-402)Ctc>Atc p.L134I NM_178491.2 NP_848586.1 Q9H3Y0 CRSPL_HUMAN R3H domain containing-like 134 extracellular region peptidase inhibitor activity NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14) 21 Myeloproliferative disorder(115;0.028) COAD - Colon adenocarcinoma(18;0.00189) CGTAGTGGATCTCATGAAGTC 0.617000 6 46 0.27861 0.283586 1 1 0 ZNF57 126295 broad.mit.edu 37 19 2917842 2917842 + Missense_Mutation SNP G G A rs149690257 byFrequency TCGA-ZG-A9L0-01A-11D-A41K-08 TCGA-ZG-A9L0-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed594b57-98b2-4fcf-b6a4-e507919e6b7d b1de224d-ae13-4f56-813c-4326b207e7ac g.chr19:2917842G>A ENST00000306908.5 + 4 1371 c.1223G>A c.(1222-1224)cGa>cAa p.R408Q ZNF57_ENST00000523428.1_Missense_Mutation_p.R376Q|AC006277.2_ENST00000520090.2_RNA NM_173480.2 NP_775751.1 Q68EA5 ZNF57_HUMAN zinc finger protein 57 408 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|GBM - Glioblastoma multiforme(1328;0.00161)|STAD - Stomach adenocarcinoma(1328;0.18) AGATCATTCCGAGGTCATTTG 0.428000 4 82 0 0 1 0 0 ZMYM3 9203 broad.mit.edu 37 X 70461117 70461117 + Missense_Mutation SNP G G A TCGA-ZG-A9L0-01A-11D-A41K-08 TCGA-ZG-A9L0-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed594b57-98b2-4fcf-b6a4-e507919e6b7d b1de224d-ae13-4f56-813c-4326b207e7ac g.chrX:70461117G>A ENST00000373998.1 - 24 4541 c.3844C>T c.(3844-3846)Cgc>Tgc p.R1282C ZMYM3_ENST00000353904.2_Missense_Mutation_p.R1294C|ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000373984.3_Missense_Mutation_p.R1204C|ZMYM3_ENST00000314425.5_Missense_Mutation_p.R1294C|ZMYM3_ENST00000373988.1_Missense_Mutation_p.R1296C NM_001171162.1 NP_001164633.1 Q14202 ZMYM3_HUMAN zinc finger, MYM-type 3 1294 multicellular organismal development nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 Renal(35;0.156) ACAGGGCAGCGGAGGGGATTC 0.507000 13 8 0 0 1 0 0 C1orf53 388722 broad.mit.edu 37 1 197876315 197876315 + Missense_Mutation SNP A A C TCGA-ZG-A9L0-01A-11D-A41K-08 TCGA-ZG-A9L0-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed594b57-98b2-4fcf-b6a4-e507919e6b7d b1de224d-ae13-4f56-813c-4326b207e7ac g.chr1:197876315A>C ENST00000367393.3 + 3 406 c.403A>C c.(403-405)Aaa>Caa p.K135Q C1orf53_ENST00000542800.1_3'UTR NM_001024594.2 NP_001019765.1 Q5VUE5 CA053_HUMAN chromosome 1 open reading frame 53 135 endometrium(1)|lung(1) 2 AGATCCATCTAAAAAGAAGCA 0.274000 13 19 0 0 1 0 0 ATRNL1 26033 broad.mit.edu 37 10 116919908 116919908 + Missense_Mutation SNP C C T TCGA-ZG-A9L0-01A-11D-A41K-08 TCGA-ZG-A9L0-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed594b57-98b2-4fcf-b6a4-e507919e6b7d b1de224d-ae13-4f56-813c-4326b207e7ac g.chr10:116919908C>T ENST00000355044.3 + 6 1063 c.937C>T c.(937-939)Cac>Tac p.H313Y ATRNL1_ENST00000529665.1_3'UTR|ATRNL1_ENST00000527407.1_Missense_Mutation_p.H313Y NM_207303.2 NP_997186.1 Q5VV63 ATRN1_HUMAN attractin-like 1 313 integral to membrane sugar binding NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234) Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827) AGCAGTTTTACACGGGAAATT 0.368000 19 97 0 0 1 0 0 TRPM3 80036 broad.mit.edu 37 9 73240153 73240153 + Missense_Mutation SNP C C T TCGA-ZG-A9L0-01A-11D-A41K-08 TCGA-ZG-A9L0-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed594b57-98b2-4fcf-b6a4-e507919e6b7d b1de224d-ae13-4f56-813c-4326b207e7ac g.chr9:73240153C>T ENST00000377110.2 - 13 1970 c.1727G>A c.(1726-1728)cGc>cAc p.R576H TRPM3_ENST00000377105.1_Missense_Mutation_p.R435H|TRPM3_ENST00000360823.2_Missense_Mutation_p.R448H|TRPM3_ENST00000396292.4_Missense_Mutation_p.R448H|TRPM3_ENST00000357533.2_Missense_Mutation_p.R590H|TRPM3_ENST00000377111.2_Missense_Mutation_p.R576H|TRPM3_ENST00000396285.1_Missense_Mutation_p.R423H|TRPM3_ENST00000423814.3_Missense_Mutation_p.R603H|TRPM3_ENST00000377106.1_Missense_Mutation_p.R448H|TRPM3_ENST00000358082.3_Missense_Mutation_p.R448H|TRPM3_ENST00000408909.2_Missense_Mutation_p.R435H|TRPM3_ENST00000396280.5_Missense_Mutation_p.R435H NM_001007471.2 NP_001007472.2 Q9HCF6 TRPM3_HUMAN transient receptor potential cation channel, subfamily M, member 3 601 integral to membrane calcium channel activity NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1) 95 GAAGCGCTTGCGCGTGTAGTT 0.597000 9 15 0 0 1 0 0 PRDX1 5052 broad.mit.edu 37 1 45980652 45980652 + Missense_Mutation SNP C C G TCGA-ZG-A9L0-01A-11D-A41K-08 TCGA-ZG-A9L0-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed594b57-98b2-4fcf-b6a4-e507919e6b7d b1de224d-ae13-4f56-813c-4326b207e7ac g.chr1:45980652C>G ENST00000262746.1 - 4 615 c.276G>C c.(274-276)aaG>aaC p.K92N PRDX1_ENST00000372079.1_Intron|PRDX1_ENST00000319248.8_Missense_Mutation_p.K92N NM_002574.3|NM_181696.2 NP_002565.1|NP_859047.1 Q06830 PRDX1_HUMAN peroxiredoxin 1 92 Thioredoxin. cell proliferation|cell redox homeostasis|hydrogen peroxide catabolic process|skeletal system development melanosome|mitochondrion|nucleus protein binding|thioredoxin peroxidase activity breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|skin(1) 12 Acute lymphoblastic leukemia(166;0.155) CTCCTTGTTTCTTAGGTGTAT 0.448000 53 108 0 0 1 0 0 TMEM106A 113277 broad.mit.edu 37 17 41367895 41367895 + Missense_Mutation SNP C C A TCGA-ZG-A9L0-01A-11D-A41K-08 TCGA-ZG-A9L0-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed594b57-98b2-4fcf-b6a4-e507919e6b7d b1de224d-ae13-4f56-813c-4326b207e7ac g.chr17:41367895C>A ENST00000331615.3 + 5 601 c.364C>A c.(364-366)Cag>Aag p.Q122K TMEM106A_ENST00000588659.1_Missense_Mutation_p.Q122K|TMEM106A_ENST00000592564.1_3'UTR|TMEM106A_ENST00000541594.1_Missense_Mutation_p.Q74K|TMEM106A_ENST00000536052.1_Missense_Mutation_p.Q122K NM_145041.1 NP_659478.1 Q96A25 T106A_HUMAN transmembrane protein 106A 122 integral to membrane NS(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1) 11 Breast(137;0.0164) BRCA - Breast invasive adenocarcinoma(366;0.0917) CGTCATTGTGCAGCCTGCAGG 0.567000 41 158 8.16277e-20 1.03395e-19 1 1 0 IGHV4OR15-8 0 broad.mit.edu 37 15 22473098 22473098 + RNA SNP C C T TCGA-ZG-A9L0-01A-11D-A41K-08 TCGA-ZG-A9L0-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed594b57-98b2-4fcf-b6a4-e507919e6b7d b1de224d-ae13-4f56-813c-4326b207e7ac g.chr15:22473098C>T ENST00000557788.2 - 0 172 TGGGGGCTGGCGGACCCAGCT 0.592000 14 107 0 0 1 0 0 ZNF578 147660 broad.mit.edu 37 19 53014268 53014268 + Missense_Mutation SNP T T G TCGA-ZG-A9L0-01A-11D-A41K-08 TCGA-ZG-A9L0-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed594b57-98b2-4fcf-b6a4-e507919e6b7d b1de224d-ae13-4f56-813c-4326b207e7ac g.chr19:53014268T>G ENST00000421239.2 + 6 878 c.634T>G c.(634-636)Ttt>Gtt p.F212V NM_001099694.1 NP_001093164.1 Q96N58 ZN578_HUMAN zinc finger protein 578 127 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01) TGGGAATAATTTTTTCCATTC 0.363000 27 45 0 0 1 0 0 GRIA4 0 broad.mit.edu 37 11 105789611 105789611 + Silent SNP C C A TCGA-ZG-A9L0-01A-11D-A41K-08 TCGA-ZG-A9L0-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed594b57-98b2-4fcf-b6a4-e507919e6b7d b1de224d-ae13-4f56-813c-4326b207e7ac g.chr11:105789611C>A ENST00000393127.2 + 11 1889 c.1443C>A c.(1441-1443)atC>atA p.I481I GRIA4_ENST00000530497.1_Silent_p.I481I|GRIA4_ENST00000525187.1_Silent_p.I481I|GRIA4_ENST00000282499.5_Silent_p.I481I NM_001077243.2 NP_001070711.2 P48058 GRIA4_HUMAN glutamate receptor, ionotropic, AMPA 4 481 glutamate signaling pathway|synaptic transmission cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6) 82 Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323) BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899) L-Glutamic Acid(DB00142) ACACAAAAATCTGGAATGGGA 0.368000 6 33 0.00307968 0.0033758 1 1 0 HNRNPDL 9987 broad.mit.edu 37 4 83350461 83350461 + Missense_Mutation SNP T T A TCGA-ZG-A9L0-01A-11D-A41K-08 TCGA-ZG-A9L0-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed594b57-98b2-4fcf-b6a4-e507919e6b7d b1de224d-ae13-4f56-813c-4326b207e7ac g.chr4:83350461T>A ENST00000295470.5 - 1 558 c.383A>T c.(382-384)aAt>aTt p.N128I HNRNPDL_ENST00000514511.1_5'UTR|HNRNPDL_ENST00000502762.1_Missense_Mutation_p.N128I|HNRNPDL_ENST00000602300.1_Missense_Mutation_p.N9I|HNRNPDL_ENST00000349655.4_Missense_Mutation_p.N9I NM_001207000.1|NM_031372.3 NP_001193929.1|NP_112740.1 heterogeneous nuclear ribonucleoprotein D-like TTCCTCTATATTGCTGTACTC 0.627000 59 59 0 0 1 0 0 SOX6 55553 broad.mit.edu 37 11 16007827 16007827 + Silent SNP G G A TCGA-ZG-A9L0-01A-11D-A41K-08 TCGA-ZG-A9L0-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed594b57-98b2-4fcf-b6a4-e507919e6b7d b1de224d-ae13-4f56-813c-4326b207e7ac g.chr11:16007827G>A ENST00000352083.6 - 15 2183 c.2106C>T c.(2104-2106)ggC>ggT p.G702G SOX6_ENST00000527619.1_Silent_p.G678G|SOX6_ENST00000316399.6_Silent_p.G682G|SOX6_ENST00000528429.1_Silent_p.G702G|SOX6_ENST00000396356.3_Silent_p.G682G|SOX6_ENST00000528252.1_Silent_p.G675G P35712 SOX6_HUMAN SRY (sex determining region Y)-box 6 702 muscle organ development nucleus sequence-specific DNA binding transcription factor activity NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|pancreas(1)|prostate(2) 43 GAAGCTTTTTGCCATCAACAA 0.458000 49 116 0 0 1 0 0 DUSP27 92235 broad.mit.edu 37 1 167095398 167095400 + In_Frame_Del DEL GAG GAG - TCGA-ZG-A9L0-01A-11D-A41K-08 TCGA-ZG-A9L0-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed594b57-98b2-4fcf-b6a4-e507919e6b7d b1de224d-ae13-4f56-813c-4326b207e7ac g.chr1:167095398_167095400delGAG ENST00000361200.2 + 6 1196_1198 c.1030_1032delGAG c.(1030-1032)del p.E348del DUSP27_ENST00000443333.1_In_Frame_Del_p.E348del|DUSP27_ENST00000485151.1_3'UTR|DUSP27_ENST00000271385.5_In_Frame_Del_p.E348del Q5VZP5 DUS27_HUMAN dual specificity phosphatase 27 (putative) 348 protein dephosphorylation protein tyrosine/serine/threonine phosphatase activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3) 89 CCTCATAGACGAGGAGGAGGAGG 0.655 2 4 --- --- --- --- SOX14 8403 broad.mit.edu 37 3 137484144 137484149 + In_Frame_Del DEL AGAACG AGAACG - TCGA-ZG-A9L0-01A-11D-A41K-08 TCGA-ZG-A9L0-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed594b57-98b2-4fcf-b6a4-e507919e6b7d b1de224d-ae13-4f56-813c-4326b207e7ac g.chr3:137484144_137484149delAGAACG ENST00000306087.1 + 1 566_571 c.518_523delAGAACG c.(517-525)cgc>c p.QNG173del NM_004189.3 NP_004180.1 O95416 SOX14_HUMAN SRY (sex determining region Y)-box 14 173 negative regulation of transcription from RNA polymerase II promoter|nervous system development|transcription, DNA-dependent nucleus sequence-specific DNA binding large_intestine(2)|lung(12) 14 CTGGGCTACCAGAACGGCGCCTTCGG 0.675 3 3 --- --- --- --- KIF25 0 broad.mit.edu 37 6 168442674 168442674 + Frame_Shift_Del DEL C C - TCGA-ZG-A9L0-01A-11D-A41K-08 TCGA-ZG-A9L0-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed594b57-98b2-4fcf-b6a4-e507919e6b7d b1de224d-ae13-4f56-813c-4326b207e7ac g.chr6:168442674delC ENST00000443060.2 + 8 1063 c.672delC c.(670-672)ctfs p.L224fs KIF25_ENST00000354419.2_Frame_Shift_Del_p.L224fs|KIF25_ENST00000351261.3_Frame_Shift_Del_p.L224fs Q9UIL4 KIF25_HUMAN kinesin family member 25 224 Kinesin-motor. microtubule-based movement|mitotic sister chromatid segregation cytoplasm|kinesin complex|microtubule ATP binding|microtubule motor activity NS(2)|breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 29 Breast(66;1.07e-05)|Ovarian(120;0.0728) Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756) GTGCCACCCTCCCCAGGGAGC 0.612 2 4 --- --- --- --- CCT6P3 0 broad.mit.edu 37 7 64532708 64532709 + RNA INS - - A TCGA-ZG-A9L0-01A-11D-A41K-08 TCGA-ZG-A9L0-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed594b57-98b2-4fcf-b6a4-e507919e6b7d b1de224d-ae13-4f56-813c-4326b207e7ac g.chr7:64532708_64532709insA ENST00000426828.1 + 0 1228 NR_033416.1 AAATGGGGACCAAAAAAAAAAA 0.351 2 4 --- --- --- --- CHRNA6 8973 broad.mit.edu 37 8 42611170 42611171 + Frame_Shift_Del DEL TG TG - TCGA-ZG-A9L0-01A-11D-A41K-08 TCGA-ZG-A9L0-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed594b57-98b2-4fcf-b6a4-e507919e6b7d b1de224d-ae13-4f56-813c-4326b207e7ac g.chr8:42611170_42611171delTG ENST00000276410.2 - 5 1526_1527 c.1171_1172delCA c.(1171-1173)tfs p.H391fs CHRNA6_ENST00000534622.1_Frame_Shift_Del_p.H376fs NM_004198.3 NP_004189.1 Q15825 ACHA6_HUMAN cholinergic receptor, nicotinic, alpha 6 (neuronal) 391 cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity endometrium(2)|large_intestine(3)|liver(1)|lung(15)|ovary(1) 22 all_lung(13;3.33e-12)|Lung NSC(13;9.17e-11)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184) all_lung(54;0.00439)|Lung NSC(58;0.0124)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151) Lung(22;0.0252)|LUSC - Lung squamous cell carcinoma(45;0.0869) TTCTTTAAGATGTCTGGGTTCC 0.515 36 69 --- --- --- --- KMT2D 8085 broad.mit.edu 37 12 49434024 49434024 + Frame_Shift_Del DEL A A - TCGA-ZG-A9L0-01A-11D-A41K-08 TCGA-ZG-A9L0-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed594b57-98b2-4fcf-b6a4-e507919e6b7d b1de224d-ae13-4f56-813c-4326b207e7ac g.chr12:49434024delA ENST00000301067.7 - 31 7528 c.7529delT c.(7528-7530)gcfs p.V2510fs NM_003482.3 NP_003473.3 lysine (K)-specific methyltransferase 2D CCCACTTGGGACCTTGGCATG 0.652 10 19 --- --- --- --- VASN 114990 broad.mit.edu 37 16 4432596 4432597 + Frame_Shift_Ins INS - - C rs76495149 TCGA-ZG-A9L0-01A-11D-A41K-08 TCGA-ZG-A9L0-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed594b57-98b2-4fcf-b6a4-e507919e6b7d b1de224d-ae13-4f56-813c-4326b207e7ac g.chr16:4432596_4432597insC ENST00000304735.3 + 2 1873_1874 c.1718_1719insC c.(1717-1719)actfs p.T573fs CORO7_ENST00000537233.2_Intron|CORO7_ENST00000251166.4_Intron|CORO7-PAM16_ENST00000572467.1_Intron|CORO7_ENST00000574025.1_Intron|CORO7_ENST00000423908.2_Intron|CORO7_ENST00000539968.1_Intron NM_138440.2 NP_612449.2 Q6EMK4 VASN_HUMAN vasorin 573 extracellular region|integral to membrane p.N573T(1) breast(1)|lung(3)|prostate(1)|skin(1) 6 CGCGAGGGCAACCTGCCGCTCC 0.772 2 4 --- --- --- --- KAL1 3730 broad.mit.edu 37 X 8503766 8503766 + Frame_Shift_Del DEL A A - TCGA-ZG-A9L0-01A-11D-A41K-08 TCGA-ZG-A9L0-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed594b57-98b2-4fcf-b6a4-e507919e6b7d b1de224d-ae13-4f56-813c-4326b207e7ac g.chrX:8503766delA ENST00000262648.3 - 12 1857 c.1708delT c.(1708-1710)ctfs p.S570fs KAL1_ENST00000481896.1_5'UTR NM_000216.2 NP_000207.2 P23352 KALM_HUMAN Kallmann syndrome 1 sequence 570 Fibronectin type-III 4. axon guidance|cell adhesion|cellular component movement extracellular space|plasma membrane|proteinaceous extracellular matrix extracellular matrix structural constituent|heparin binding|serine-type endopeptidase inhibitor activity breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(1) 32 ATCTTCCAAGAAAAGTGACCG 0.488 31 14 --- --- --- ---