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 UBXN4 23190 broad.mit.edu 37 2 136511791 136511791 + Missense_Mutation SNP A A C TCGA-B4-5838-01A-11D-1669-08 TCGA-B4-5838-10A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14e44673-c942-45f2-a588-cae1d3655bb8 72b65a50-86e6-47ba-84a9-83c4c33496be g.chr2:136511791A>C ENST00000272638.9 + 4 588 c.277A>C c.(277-279)Ata>Cta p.I93L UBXN4_ENST00000490163.1_3'UTR NM_014607.3 NP_055422.1 Q92575 UBXN4_HUMAN UBX domain protein 4 93 response to unfolded protein endoplasmic reticulum membrane|nuclear envelope protein binding NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 24 CTTGGAAGTAATAGCAGGAAG 0.403000 41 105 0 0 0.131918 0 0 RBM28 55131 broad.mit.edu 37 7 127964664 127964664 + Silent SNP C C T TCGA-B4-5838-01A-11D-1669-08 TCGA-B4-5838-10A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14e44673-c942-45f2-a588-cae1d3655bb8 72b65a50-86e6-47ba-84a9-83c4c33496be g.chr7:127964664C>T ENST00000223073.1 - 12 1401 c.1287G>A c.(1285-1287)acG>acA p.T429T RBM28_ENST00000415472.2_Silent_p.T288T NM_018077.2 NP_060547.2 Q9NW13 RBM28_HUMAN RNA binding motif protein 28 429 mRNA processing|RNA splicing Golgi apparatus|nucleolus|spliceosomal complex nucleotide binding|RNA binding breast(1)|kidney(7)|large_intestine(3)|lung(8)|ovary(2) 21 TCTTCACCTTCGTCGTCTGAA 0.562000 85 226 0 0 0.139131 0 0 MC5R 4161 broad.mit.edu 37 18 13826628 13826628 + Silent SNP C C T rs142287236 byFrequency TCGA-B4-5838-01A-11D-1669-08 TCGA-B4-5838-10A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14e44673-c942-45f2-a588-cae1d3655bb8 72b65a50-86e6-47ba-84a9-83c4c33496be g.chr18:13826628C>T ENST00000324750.3 + 1 1086 c.864C>T c.(862-864)tcC>tcT p.S288S NM_005913.2 NP_005904.1 P33032 MC5R_HUMAN melanocortin 5 receptor 288 G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process integral to plasma membrane melanocortin receptor activity|protein binding NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|upper_aerodigestive_tract(1) 41 TGTGTAATTCCGTGATGGACC 0.463000 45 125 0 0 0.139131 0 0 LRIG2 9860 broad.mit.edu 37 1 113661909 113661909 + Missense_Mutation SNP A A T TCGA-B4-5838-01A-11D-1669-08 TCGA-B4-5838-10A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14e44673-c942-45f2-a588-cae1d3655bb8 72b65a50-86e6-47ba-84a9-83c4c33496be g.chr1:113661909A>T ENST00000361127.4 + 17 2933 c.2735A>T c.(2734-2736)tAc>tTc p.Y912F LRIG2_ENST00000492207.1_3'UTR NM_014813.1 NP_055628.1 O94898 LRIG2_HUMAN leucine-rich repeats and immunoglobulin-like domains 2 912 cytoplasm|integral to membrane|plasma membrane breast(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(10)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1) 31 Lung SC(450;0.246) all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986) Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15) GCCAACATCTACTCCAGGACC 0.423000 13 112 0 0 0.105934 0 0 MAML3 55534 broad.mit.edu 37 4 140811971 140811971 + Missense_Mutation SNP G G A TCGA-B4-5838-01A-11D-1669-08 TCGA-B4-5838-10A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14e44673-c942-45f2-a588-cae1d3655bb8 72b65a50-86e6-47ba-84a9-83c4c33496be g.chr4:140811971G>A ENST00000509479.2 - 2 1475 c.619C>T c.(619-621)Ccc>Tcc p.P207S MAML3_ENST00000327122.5_Missense_Mutation_p.P51S NM_018717.4 NP_061187.2 Q96JK9 MAML3_HUMAN mastermind-like 3 (Drosophila) 207 Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear speck transcription coactivator activity breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2) 25 all_hematologic(180;0.162) ATGTTACTGGGCAAATTGTTG 0.488000 3 54 0 0 0.115264 0 0 CORO1A 11151 broad.mit.edu 37 16 30198794 30198794 + Missense_Mutation SNP G G A TCGA-B4-5838-01A-11D-1669-08 TCGA-B4-5838-10A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14e44673-c942-45f2-a588-cae1d3655bb8 72b65a50-86e6-47ba-84a9-83c4c33496be g.chr16:30198794G>A ENST00000219150.5 + 6 1033 c.728G>A c.(727-729)aGt>aAt p.S243N CORO1A_ENST00000565497.1_Missense_Mutation_p.S243N|CORO1A_ENST00000570045.1_Missense_Mutation_p.S243N NM_001193333.2|NM_007074.3 NP_001180262.1|NP_009005.1 P31146 COR1A_HUMAN coronin, actin binding protein, 1A 243 cell-substrate adhesion|innate immune response|leukocyte chemotaxis|negative regulation of actin nucleation|phagolysosome assembly|positive chemotaxis|regulation of cell shape|uropod organization actin filament|cortical actin cytoskeleton|lamellipodium|phagocytic cup|phagocytic vesicle membrane actin filament binding|phosphatidylinositol 3-kinase binding|protein C-terminus binding|protein homodimerization activity central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1) 9 AGCCGCATGAGTGAGCGGCAG 0.667000 3 16 0 0 0.150653 0 0 PAXBP1 94104 broad.mit.edu 37 21 34136826 34136826 + Missense_Mutation SNP G G T TCGA-B4-5838-01A-11D-1669-08 TCGA-B4-5838-10A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14e44673-c942-45f2-a588-cae1d3655bb8 72b65a50-86e6-47ba-84a9-83c4c33496be g.chr21:34136826G>T ENST00000331923.4 - 3 671 c.482C>A c.(481-483)cCt>cAt p.P161H PAXBP1_ENST00000290178.4_Missense_Mutation_p.P161H|PAXBP1_ENST00000472588.1_5'UTR NM_016631.3 NP_057715.2 PAX3 and PAX7 binding protein 1 TTTGTCCAAAGGTTGTTCACC 0.269000 22 36 5.45024e-15 6.13869e-15 0.083992 1 0 FLT1 2321 broad.mit.edu 37 13 29001360 29001360 + Missense_Mutation SNP C C T TCGA-B4-5838-01A-11D-1669-08 TCGA-B4-5838-10A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14e44673-c942-45f2-a588-cae1d3655bb8 72b65a50-86e6-47ba-84a9-83c4c33496be g.chr13:29001360C>T ENST00000282397.4 - 10 1623 c.1372G>A c.(1372-1374)Ggt>Agt p.G458S FLT1_ENST00000539099.1_Missense_Mutation_p.G458S|FLT1_ENST00000541932.1_Missense_Mutation_p.G458S NM_002019.4 NP_002010.2 P17948 VGFR1_HUMAN fms-related tyrosine kinase 1 458 Ig-like C2-type 5. cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway extracellular space|Golgi apparatus|integral to plasma membrane|nucleus ATP binding|growth factor binding|vascular endothelial growth factor receptor activity NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 115 Acute lymphoblastic leukemia(6;0.04) Lung SC(185;0.0262)|Breast(139;0.188) Colorectal(13;0.000674) all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207) Sunitinib(DB01268) TGAGGGATACCATATGCGGTA 0.468000 39 82 0 0 0.098360 0 0 SCN11A 11280 broad.mit.edu 37 3 38950499 38950499 + Missense_Mutation SNP C C G TCGA-B4-5838-01A-11D-1669-08 TCGA-B4-5838-10A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14e44673-c942-45f2-a588-cae1d3655bb8 72b65a50-86e6-47ba-84a9-83c4c33496be g.chr3:38950499C>G ENST00000302328.3 - 9 1486 c.1288G>C c.(1288-1290)Gag>Cag p.E430Q SCN11A_ENST00000456224.3_Missense_Mutation_p.E430Q|SCN11A_ENST00000450244.1_Missense_Mutation_p.E430Q|SCN11A_ENST00000444237.2_Missense_Mutation_p.E430Q NM_014139.2 NP_054858.2 Q9UI33 SCNBA_HUMAN sodium channel, voltage-gated, type XI, alpha subunit 430 response to drug voltage-gated sodium channel complex voltage-gated sodium channel activity NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3) 119 Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226) Cocaine(DB00907) TCCTTTTCCTCCTTTAACAGC 0.537000 3 126 0 0 0.115264 0 0 FLI1 2313 broad.mit.edu 37 11 128680431 128680431 + Missense_Mutation SNP G G A TCGA-B4-5838-01A-11D-1669-08 TCGA-B4-5838-10A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14e44673-c942-45f2-a588-cae1d3655bb8 72b65a50-86e6-47ba-84a9-83c4c33496be g.chr11:128680431G>A ENST00000344954.6 + 9 1196 c.808G>A c.(808-810)Gag>Aag p.E270K FLI1_ENST00000525560.1_Missense_Mutation_p.E110K|FLI1_ENST00000281428.8_Missense_Mutation_p.E237K|FLI1_ENST00000429175.2_Missense_Mutation_p.E303K|FLI1_ENST00000534087.1_Missense_Mutation_p.E270K Q01543 FLI1_HUMAN Fli-1 proto-oncogene, ETS transcription factor 303 hemostasis|organ morphogenesis nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity EWSR1/FLI1(2569) NS(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(2) 31 all_hematologic(175;0.0641) Lung NSC(97;0.00588)|all_lung(97;0.00764)|Breast(109;0.0115)|Medulloblastoma(222;0.0523)|all_neural(223;0.0862)|all_hematologic(192;0.182) OV - Ovarian serous cystadenocarcinoma(99;0.01)|LUSC - Lung squamous cell carcinoma(976;0.0324)|Lung(977;0.0327) TATCACCTGGGAGGGGACCAA 0.617000 T EWSR1 Ewing sarcoma 5 7 0 0 0.217242 0 0 OR11H4 390442 broad.mit.edu 37 14 20711760 20711760 + Silent SNP A A T TCGA-B4-5838-01A-11D-1669-08 TCGA-B4-5838-10A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14e44673-c942-45f2-a588-cae1d3655bb8 72b65a50-86e6-47ba-84a9-83c4c33496be g.chr14:20711760A>T ENST00000315409.2 + 1 863 c.810A>T c.(808-810)gtA>gtT p.V270V NM_001004479.1 NP_001004479.1 Q8NGC9 O11H4_HUMAN olfactory receptor, family 11, subfamily H, member 4 270 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1) 29 all_cancers(95;0.000888) Epithelial(56;1.75e-06)|all cancers(55;1.22e-05) GBM - Glioblastoma multiforme(265;0.0146) TAATGTATGTAAGTCCTACAT 0.423000 50 196 0 0 0.139131 0 0 RAI14 26064 broad.mit.edu 37 5 34757654 34757654 + Missense_Mutation SNP G G C TCGA-B4-5838-01A-11D-1669-08 TCGA-B4-5838-10A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14e44673-c942-45f2-a588-cae1d3655bb8 72b65a50-86e6-47ba-84a9-83c4c33496be g.chr5:34757654G>C ENST00000265109.3 + 3 405 c.118G>C c.(118-120)Ggc>Cgc p.G40R RAI14_ENST00000428746.2_Missense_Mutation_p.G40R|RAI14_ENST00000397449.1_Missense_Mutation_p.G33R|RAI14_ENST00000507276.1_3'UTR|RAI14_ENST00000506376.1_Missense_Mutation_p.G32R|RAI14_ENST00000503673.1_Missense_Mutation_p.G40R|RAI14_ENST00000515799.1_Missense_Mutation_p.G43R|RAI14_ENST00000512629.1_Missense_Mutation_p.G40R NM_001145522.1|NM_015577.2 NP_001138994.1|NP_056392.2 Q9P0K7 RAI14_HUMAN retinoic acid induced 14 40 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) CTCACTGCTCGGCAAGAAGGG 0.537000 18 50 0 0 0.160694 0 0 HSD17B7P2 158160 broad.mit.edu 37 10 38654432 38654432 + RNA SNP A A G rs2257765 TCGA-B4-5838-01A-11D-1669-08 TCGA-B4-5838-10A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14e44673-c942-45f2-a588-cae1d3655bb8 72b65a50-86e6-47ba-84a9-83c4c33496be g.chr10:38654432A>G ENST00000494540.1 + 0 599 NR_003086.1 TCATCTCGCAATGCAAGGAAA 0.453000 3 71 0 0 0.115264 0 0 DXO 1797 broad.mit.edu 37 6 31938839 31938839 + Missense_Mutation SNP C C T TCGA-B4-5838-01A-11D-1669-08 TCGA-B4-5838-10A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14e44673-c942-45f2-a588-cae1d3655bb8 72b65a50-86e6-47ba-84a9-83c4c33496be g.chr6:31938839C>T ENST00000375349.3 - 3 853 c.442G>A c.(442-444)Ggc>Agc p.G148S DOM3Z_ENST00000375356.3_Missense_Mutation_p.G148S|DOM3Z_ENST00000337523.5_Missense_Mutation_p.G148S|DOM3Z_ENST00000478221.1_5'UTR O77932 DOM3Z_HUMAN 148 identical protein binding|metal ion binding|nucleotide binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1) 7 AGCTGCCAGCCCTCCTGCCGC 0.647000 29 78 0 0 0.163468 0 0 ZDHHC2 51201 broad.mit.edu 37 8 17067900 17067900 + Silent SNP A A G TCGA-B4-5838-01A-11D-1669-08 TCGA-B4-5838-10A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14e44673-c942-45f2-a588-cae1d3655bb8 72b65a50-86e6-47ba-84a9-83c4c33496be g.chr8:17067900A>G ENST00000262096.8 + 10 1556 c.861A>G c.(859-861)ctA>ctG p.L287L NM_016353.4 NP_057437.1 Q9UIJ5 ZDHC2_HUMAN zinc finger, DHHC-type containing 2 287 integral to membrane acyltransferase activity|zinc ion binding endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|pancreas(1)|stomach(1) 8 Colorectal(111;0.0697)|COAD - Colon adenocarcinoma(73;0.244) ATTCTAGTCTAGGTGATGGCT 0.413000 6 31 0 0 0.217242 0 0 OR6F1 343169 broad.mit.edu 37 1 247875312 247875312 + Missense_Mutation SNP A A G TCGA-B4-5838-01A-11D-1669-08 TCGA-B4-5838-10A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14e44673-c942-45f2-a588-cae1d3655bb8 72b65a50-86e6-47ba-84a9-83c4c33496be g.chr1:247875312A>G ENST00000302084.2 - 1 793 c.746T>C c.(745-747)cTc>cCc p.L249P RP11-634B7.4_ENST00000449298.1_RNA NM_001005286.1 NP_001005286.1 Q8NGZ6 OR6F1_HUMAN olfactory receptor, family 6, subfamily F, member 1 249 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2) 47 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.0168) ATACCAAATGAGCACCACGGT 0.537000 42 83 0 0 0.104719 0 0 SEC14L5 9717 broad.mit.edu 37 16 5040783 5040783 + Missense_Mutation SNP G G A TCGA-B4-5838-01A-11D-1669-08 TCGA-B4-5838-10A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14e44673-c942-45f2-a588-cae1d3655bb8 72b65a50-86e6-47ba-84a9-83c4c33496be g.chr16:5040783G>A ENST00000251170.7 + 5 541 c.361G>A c.(361-363)Gaa>Aaa p.E121K NM_014692.1 NP_055507.1 O43304 S14L5_HUMAN SEC14-like 5 (S. cerevisiae) 121 PRELI/MSF1. integral to membrane|intracellular transporter activity NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|skin(1) 29 CCCTGAGAATGAAGACTGGAC 0.582000 14 28 0 0 0.146539 0 0 F9 2158 broad.mit.edu 37 X 138644198 138644198 + Missense_Mutation SNP A A C TCGA-B4-5838-01A-11D-1669-08 TCGA-B4-5838-10A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14e44673-c942-45f2-a588-cae1d3655bb8 72b65a50-86e6-47ba-84a9-83c4c33496be g.chrX:138644198A>C ENST00000218099.2 + 8 1361 c.1354A>C c.(1354-1356)Aac>Cac p.N452H F9_ENST00000394090.2_Missense_Mutation_p.N414H NM_000133.3 NP_000124.1 P00740 FA9_HUMAN coagulation factor IX 452 Peptidase S1. blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis endoplasmic reticulum lumen|extracellular region|Golgi lumen|plasma membrane calcium ion binding|serine-type endopeptidase activity breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|skin(1) 35 Acute lymphoblastic leukemia(192;0.000127) Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Heparin(DB01109)|Menadione(DB00170) CCGGTATGTCAACTGGATTAA 0.373000 22 23 0 0 0.076483 0 0 C12orf76 400073 broad.mit.edu 37 12 110511326 110511326 + Translation_Start_Site SNP C C T TCGA-B4-5838-01A-11D-1669-08 TCGA-B4-5838-10A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14e44673-c942-45f2-a588-cae1d3655bb8 72b65a50-86e6-47ba-84a9-83c4c33496be g.chr12:110511326C>T ENST00000548191.1 - 0 165 C12orf76_ENST00000548936.1_5'UTR Q8N812 CL076_HUMAN chromosome 12 open reading frame 76 endometrium(1)|large_intestine(2)|lung(2)|ovary(1) 6 GAAAACATCACTGCAGCTGCA 0.552000 6 10 0 0 0.029380 0 0 PNMA1 9240 broad.mit.edu 37 14 74179538 74179538 + Missense_Mutation SNP C C T TCGA-B4-5838-01A-11D-1669-08 TCGA-B4-5838-10A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14e44673-c942-45f2-a588-cae1d3655bb8 72b65a50-86e6-47ba-84a9-83c4c33496be g.chr14:74179538C>T ENST00000316836.3 - 1 1590 c.805G>A c.(805-807)Gag>Aag p.E269K NM_006029.4 NP_006020.4 Q8ND90 PNMA1_HUMAN paraneoplastic Ma antigen 1 269 apoptosis|central nervous system development|inflammatory response to antigenic stimulus|spermatogenesis cytoplasm|focal adhesion|nucleolus protein binding breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|prostate(1)|urinary_tract(2) 13 BRCA - Breast invasive adenocarcinoma(234;0.00331)|KIRC - Kidney renal clear cell carcinoma(182;0.0797) agcagaggctccagacgaatg 0.517000 20 43 0 0 0.189662 0 0 SLC12A2 6558 broad.mit.edu 37 5 127484471 127484471 + Missense_Mutation SNP C C T TCGA-B4-5838-01A-11D-1669-08 TCGA-B4-5838-10A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14e44673-c942-45f2-a588-cae1d3655bb8 72b65a50-86e6-47ba-84a9-83c4c33496be g.chr5:127484471C>T ENST00000262461.2 + 12 2096 c.1907C>T c.(1906-1908)cCa>cTa p.P636L SLC12A2_ENST00000343225.4_Missense_Mutation_p.P636L NM_001046.2 NP_001037.1 P55011 S12A2_HUMAN solute carrier family 12 (sodium/potassium/chloride transporter), member 2 636 potassium ion transport|sodium ion transport|transepithelial ammonium transport|transepithelial chloride transport integral to plasma membrane|membrane fraction ammonia transmembrane transporter activity|sodium:potassium:chloride symporter activity breast(3)|endometrium(5)|kidney(5)|large_intestine(12)|lung(16)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 all_cancers(142;0.0972)|Prostate(80;0.151) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978) Bumetanide(DB00887)|Potassium Chloride(DB00761) AACATCTACCCAGCTTTCCAG 0.323000 46 215 0 0 0.139131 0 0 PCDHGA12 26025 broad.mit.edu 37 5 140811159 140811159 + Missense_Mutation SNP G G T TCGA-B4-5838-01A-11D-1669-08 TCGA-B4-5838-10A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14e44673-c942-45f2-a588-cae1d3655bb8 72b65a50-86e6-47ba-84a9-83c4c33496be g.chr5:140811159G>T ENST00000252085.3 + 1 975 c.833G>T c.(832-834)aGg>aTg p.R278M PCDHGA11_ENST00000398587.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron NM_003735.2|NM_032094.1 NP_003726.1|NP_115265.1 breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1) 58 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCGGAAGTGAGGTATTCCTTC 0.542000 44 114 3.61848e-18 4.20845e-18 0.098360 1 0 TJP1 7082 broad.mit.edu 37 15 30026551 30026551 + Silent SNP T T C TCGA-B4-5838-01A-11D-1669-08 TCGA-B4-5838-10A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14e44673-c942-45f2-a588-cae1d3655bb8 72b65a50-86e6-47ba-84a9-83c4c33496be g.chr15:30026551T>C ENST00000346128.6 - 12 1917 c.1443A>G c.(1441-1443)gaA>gaG p.E481E TJP1_ENST00000400011.2_Silent_p.E485E|TJP1_ENST00000356107.6_Silent_p.E481E|TJP1_ENST00000545208.2_Silent_p.E481E NM_003257.3|NM_175610.2 NP_003248.3|NP_783297.2 Q07157 ZO1_HUMAN tight junction protein 1 481 PDZ 3. cell-cell junction assembly|cellular component disassembly involved in apoptosis basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1) 68 all_lung(180;7.48e-11)|Breast(32;0.000153) all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186) GGACGGCTTCTTCTCTTATGA 0.368000 10 147 0 0 0.069234 0 0 SP140L 93349 broad.mit.edu 37 2 231193481 231193481 + Missense_Mutation SNP C C G TCGA-B4-5838-01A-11D-1669-08 TCGA-B4-5838-10A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14e44673-c942-45f2-a588-cae1d3655bb8 72b65a50-86e6-47ba-84a9-83c4c33496be g.chr2:231193481C>G ENST00000243810.6 + 2 42 c.42C>G c.(40-42)aaC>aaG p.N14K SP140L_ENST00000444636.1_Missense_Mutation_p.N14K|SP140L_ENST00000415673.2_Missense_Mutation_p.N14K|SP140_ENST00000486687.2_Intron|SP140L_ENST00000396563.4_Missense_Mutation_p.N14K Q9H930 LY10L_HUMAN SP140 nuclear body protein-like 14 nucleus DNA binding|metal ion binding central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|skin(1) 20 gggggctgaacggaggtgttt 0.378000 11 32 0 0 0.069234 0 0 HSPA12B 116835 broad.mit.edu 37 20 3728984 3728984 + Missense_Mutation SNP C C A TCGA-B4-5838-01A-11D-1669-08 TCGA-B4-5838-10A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14e44673-c942-45f2-a588-cae1d3655bb8 72b65a50-86e6-47ba-84a9-83c4c33496be g.chr20:3728984C>A ENST00000254963.2 + 8 941 c.796C>A c.(796-798)Cca>Aca p.P266T HSPA12B_ENST00000542646.1_Missense_Mutation_p.P100T NM_001197327.1|NM_052970.4 NP_001184256.1|NP_443202.3 Q96MM6 HS12B_HUMAN heat shock 70kD protein 12B 266 ATP binding NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1) 14 TGGCCGGGCCCCAGGTGGTGG 0.701000 12 31 4.3838e-07 4.73805e-07 0.105934 1 0 FAM196A 642938 broad.mit.edu 37 10 128974642 128974642 + Silent SNP G G T TCGA-B4-5838-01A-11D-1669-08 TCGA-B4-5838-10A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14e44673-c942-45f2-a588-cae1d3655bb8 72b65a50-86e6-47ba-84a9-83c4c33496be g.chr10:128974642G>T ENST00000522781.1 - 4 573 c.18C>A c.(16-18)acC>acA p.T6T DOCK1_ENST00000280333.6_Intron|FAM196A_ENST00000424811.2_Silent_p.T6T NM_001039762.2 NP_001034851.1 Q6ZSG2 F196A_HUMAN family with sequence similarity 196, member A 6 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 30 TGCATTTGCCGGTGTCCTTAC 0.537000 26 113 2.79863e-10 3.05565e-10 0.099896 1 0 ARHGEF17 9828 broad.mit.edu 37 11 73071410 73071410 + Missense_Mutation SNP G G C TCGA-B4-5838-01A-11D-1669-08 TCGA-B4-5838-10A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14e44673-c942-45f2-a588-cae1d3655bb8 72b65a50-86e6-47ba-84a9-83c4c33496be g.chr11:73071410G>C ENST00000263674.3 + 11 4602 c.4252G>C c.(4252-4254)Gac>Cac p.D1418H NM_014786.3 NP_055601.2 Q96PE2 ARHGH_HUMAN Rho guanine nucleotide exchange factor (GEF) 17 1418 actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol Rho guanyl-nucleotide exchange factor activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2) 32 CATGCACCGGGACCTGTCGGA 0.657000 18 104 0 0 0.175082 0 0 HYDIN 54768 broad.mit.edu 37 16 70934968 70934968 + Missense_Mutation SNP C C T TCGA-B4-5838-01A-11D-1669-08 TCGA-B4-5838-10A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14e44673-c942-45f2-a588-cae1d3655bb8 72b65a50-86e6-47ba-84a9-83c4c33496be g.chr16:70934968C>T ENST00000393567.2 - 53 9137 c.8987G>A c.(8986-8988)gGc>gAc p.G2996D NM_001270974.1 NP_001257903.1 Q4G0P3 HYDIN_HUMAN HYDIN, axonemal central pair apparatus protein 2996 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 43 Ovarian(137;0.0654) CAGGTGCAGGCCGTACTCAGC 0.557000 39 122 0 0 0.124865 0 0 DTX1 1840 broad.mit.edu 37 12 113496211 113496211 + Missense_Mutation SNP T T C TCGA-B4-5838-01A-11D-1669-08 TCGA-B4-5838-10A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14e44673-c942-45f2-a588-cae1d3655bb8 72b65a50-86e6-47ba-84a9-83c4c33496be g.chr12:113496211T>C ENST00000257600.3 + 1 717 c.214T>C c.(214-216)Tac>Cac p.Y72H NM_004416.2 NP_004407.2 Q86Y01 DTX1_HUMAN deltex homolog 1 (Drosophila) 72 WWE 1. negative regulation of neuron differentiation|Notch signaling pathway|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter cytoplasm|nucleus Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 32 GCTTGTGCCCTACATCATCGA 0.642000 3 133 0 0 0.184627 0 0 TAC3 6866 broad.mit.edu 37 12 57409500 57409500 + Nonsense_Mutation SNP C C A TCGA-B4-5838-01A-11D-1669-08 TCGA-B4-5838-10A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14e44673-c942-45f2-a588-cae1d3655bb8 72b65a50-86e6-47ba-84a9-83c4c33496be g.chr12:57409500C>A ENST00000458521.2 - 2 241 c.82G>T c.(82-84)Gag>Tag p.E28* TAC3_ENST00000441881.1_Nonsense_Mutation_p.E28*|TAC3_ENST00000415231.1_Nonsense_Mutation_p.E28* NM_013251.3 NP_037383.1 Q9UHF0 TKNK_HUMAN tachykinin 3 28 female pregnancy|neuropeptide signaling pathway|tachykinin receptor signaling pathway extracellular space|soluble fraction receptor binding cervix(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1) 7 ACCACCTCCTCCTGTGGCTCC 0.597000 31 83 5.60225e-13 6.24417e-13 0.144211 1 0 OR2Y1 134083 broad.mit.edu 37 5 180166493 180166493 + Missense_Mutation SNP G G A TCGA-B4-5838-01A-11D-1669-08 TCGA-B4-5838-10A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14e44673-c942-45f2-a588-cae1d3655bb8 72b65a50-86e6-47ba-84a9-83c4c33496be g.chr5:180166493G>A ENST00000307832.2 - 1 606 c.566C>T c.(565-567)gCg>gTg p.A189V NM_001001657.1 NP_001001657.1 Q8NGV0 OR2Y1_HUMAN olfactory receptor, family 2, subfamily Y, member 1 189 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 20 all_cancers(89;1.25e-05)|all_epithelial(37;4.36e-06)|Renal(175;0.000159)|Lung NSC(126;0.00317)|all_lung(126;0.0041)|Breast(19;0.114) all_cancers(40;0.0834)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) TTCTGTGTCCGCACAAGCCAA 0.507000 4 112 0 0 0.184627 0 0 CHTF18 63922 broad.mit.edu 37 16 840647 840647 + Missense_Mutation SNP C C T TCGA-B4-5838-01A-11D-1669-08 TCGA-B4-5838-10A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14e44673-c942-45f2-a588-cae1d3655bb8 72b65a50-86e6-47ba-84a9-83c4c33496be g.chr16:840647C>T ENST00000317063.6 + 8 1460 c.1460C>T c.(1459-1461)aCg>aTg p.T487M CHTF18_ENST00000491530.1_3'UTR|CHTF18_ENST00000262315.9_Missense_Mutation_p.T292M|CHTF18_ENST00000455171.2_Missense_Mutation_p.T320M Q8WVB6 CTF18_HUMAN CTF18, chromosome transmission fidelity factor 18 homolog (S. cerevisiae) 292 cell cycle|DNA replication nucleus ATP binding|DNA binding|nucleoside-triphosphatase activity endometrium(1)|kidney(3)|liver(2)|lung(4)|prostate(1) 11 Hepatocellular(780;0.00335) CGCCACTACACGGAGCTGCTC 0.597000 3 17 0 0 0.150653 0 0 PI4KB 5298 broad.mit.edu 37 1 151288321 151288321 + Missense_Mutation SNP C C T TCGA-B4-5838-01A-11D-1669-08 TCGA-B4-5838-10A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14e44673-c942-45f2-a588-cae1d3655bb8 72b65a50-86e6-47ba-84a9-83c4c33496be g.chr1:151288321C>T ENST00000368875.2 - 3 1253 c.673G>A c.(673-675)Gcc>Acc p.A225T PI4KB_ENST00000271657.5_Missense_Mutation_p.A225T|PI4KB_ENST00000368873.1_Missense_Mutation_p.A213T|PI4KB_ENST00000368874.4_Missense_Mutation_p.A213T|PI4KB_ENST00000529142.1_Intron|PI4KB_ENST00000368872.1_Missense_Mutation_p.A213T NM_002651.2 NP_002642.1 Q9UBF8 PI4KB_HUMAN phosphatidylinositol 4-kinase, catalytic, beta 213 phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|receptor-mediated endocytosis endosome|Golgi apparatus|mitochondrial outer membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum membrane 1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding breast(3)|endometrium(5)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 27 Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181) AGCAACAGGGCACACTGGAGG 0.507000 21 47 0 0 0.076483 0 0 POMT1 10585 broad.mit.edu 37 9 134385344 134385344 + Silent SNP C C G TCGA-B4-5838-01A-11D-1669-08 TCGA-B4-5838-10A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14e44673-c942-45f2-a588-cae1d3655bb8 72b65a50-86e6-47ba-84a9-83c4c33496be g.chr9:134385344C>G ENST00000423007.1 + 8 1102 c.660C>G c.(658-660)gtC>gtG p.V220V POMT1_ENST00000402686.3_Silent_p.V220V|POMT1_ENST00000354713.4_Silent_p.V190V|POMT1_ENST00000404875.2_Silent_p.V103V|POMT1_ENST00000341012.7_Silent_p.V166V|POMT1_ENST00000372228.3_Silent_p.V220V|POMT1_ENST00000541219.1_Intron|POMT1_ENST00000419118.2_Silent_p.V68V NM_001136113.1 NP_001129585.1 Q9Y6A1 POMT1_HUMAN protein-O-mannosyltransferase 1 220 multicellular organismal development|protein O-linked glycosylation endoplasmic reticulum membrane|integral to membrane dolichyl-phosphate-mannose-protein mannosyltransferase activity|metal ion binding NS(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 31 Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;2.65e-05)|Epithelial(140;0.000259) TTGCAGCTGTCCATGCCTGGC 0.522000 45 84 0 0 0.139131 0 0 EFCAB6 64800 broad.mit.edu 37 22 43972202 43972202 + Missense_Mutation SNP T T G TCGA-B4-5838-01A-11D-1669-08 TCGA-B4-5838-10A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14e44673-c942-45f2-a588-cae1d3655bb8 72b65a50-86e6-47ba-84a9-83c4c33496be g.chr22:43972202T>G ENST00000262726.7 - 26 3648 c.3395A>C c.(3394-3396)cAg>cCg p.Q1132P EFCAB6_ENST00000396231.2_Missense_Mutation_p.Q980P NM_022785.3 NP_073622.2 Q5THR3 EFCB6_HUMAN EF-hand calcium binding domain 6 1132 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus calcium ion binding breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 68 Ovarian(80;0.0247)|all_neural(38;0.025) GCTAAAGTTCTGGAGAAAATA 0.313000 19 50 0 0 0.076483 0 0 TSTD2 158427 broad.mit.edu 37 9 100380108 100380108 + Silent SNP G G A TCGA-B4-5838-01A-11D-1669-08 TCGA-B4-5838-10A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14e44673-c942-45f2-a588-cae1d3655bb8 72b65a50-86e6-47ba-84a9-83c4c33496be g.chr9:100380108G>A ENST00000341170.4 - 4 916 c.534C>T c.(532-534)gaC>gaT p.D178D TSTD2_ENST00000375163.1_5'UTR|TSTD2_ENST00000375172.2_5'UTR|TSTD2_ENST00000375165.1_5'UTR|TSTD2_ENST00000484708.1_5'UTR|TSTD2_ENST00000354801.2_5'UTR NM_139246.4 NP_640339.4 Q5T7W7 TSTD2_HUMAN thiosulfate sulfurtransferase (rhodanese)-like domain containing 2 178 large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 15 GATCCTCCAGGTCATGGTAGC 0.498000 6 65 0 0 0.029380 0 0 TMPRSS13 84000 broad.mit.edu 37 11 117789550 117789550 + Missense_Mutation SNP C C T TCGA-B4-5838-01A-11D-1669-08 TCGA-B4-5838-10A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14e44673-c942-45f2-a588-cae1d3655bb8 72b65a50-86e6-47ba-84a9-83c4c33496be g.chr11:117789550C>T ENST00000528626.1 - 2 98 c.25G>A c.(25-27)Gca>Aca p.A9T TMPRSS13_ENST00000524993.1_Missense_Mutation_p.A9T|TMPRSS13_ENST00000526090.1_Missense_Mutation_p.A9T|TMPRSS13_ENST00000430170.2_Missense_Mutation_p.A9T|TMPRSS13_ENST00000445164.2_Missense_Mutation_p.A9T NM_001206789.1 NP_001193718.1 Q9BYE2 TMPSD_HUMAN transmembrane protease, serine 13 9 12 X 5 AA repeats of A-S-P-A-[GLQR].|Ala-rich. proteolysis integral to membrane scavenger receptor activity|serine-type endopeptidase activity endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|pancreas(1)|prostate(1)|urinary_tract(1) 20 all_hematologic(175;0.0487) Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.00106) GCTGGAGATGCATTCTGAAAG 0.602000 3 40 0 0 0.115264 0 0 SPATA31A6 389730 broad.mit.edu 37 9 43625455 43625455 + Missense_Mutation SNP T T C TCGA-B4-5838-01A-11D-1669-08 TCGA-B4-5838-10A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14e44673-c942-45f2-a588-cae1d3655bb8 72b65a50-86e6-47ba-84a9-83c4c33496be g.chr9:43625455T>C ENST00000332857.6 - 4 3260 c.3232A>G c.(3232-3234)Aaa>Gaa p.K1078E NM_001145196.1 NP_001138668.1 SPATA31 subfamily A, member 6 TGCACCAGTTTGCTCCTTCTG 0.532000 46 284 0 0 0.139131 0 0 NUP153 9972 broad.mit.edu 37 6 17706532 17706532 + Nonsense_Mutation SNP G G C TCGA-B4-5838-01A-11D-1669-08 TCGA-B4-5838-10A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14e44673-c942-45f2-a588-cae1d3655bb8 72b65a50-86e6-47ba-84a9-83c4c33496be g.chr6:17706532G>C ENST00000262077.2 - 1 86 c.87C>G c.(85-87)taC>taG p.Y29* NUP153_ENST00000537253.1_Nonsense_Mutation_p.Y29*|RP11-500C11.3_ENST00000606771.1_RNA NM_005124.2 NP_005115.2 P49790 NU153_HUMAN nucleoporin 153kDa 29 carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm DNA binding|protein binding|transporter activity|zinc ion binding NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2) 53 Breast(50;0.0259)|Ovarian(93;0.0584) all_hematologic(90;0.125) all cancers(50;0.0981)|Epithelial(50;0.112) GCCCCTGCTGGTAAGGCTTAA 0.721000 13 24 0 0 0.132662 0 0 HMMR 3161 broad.mit.edu 37 5 162910059 162910059 + Silent SNP A A G TCGA-B4-5838-01A-11D-1669-08 TCGA-B4-5838-10A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14e44673-c942-45f2-a588-cae1d3655bb8 72b65a50-86e6-47ba-84a9-83c4c33496be g.chr5:162910059A>G ENST00000416990.2 + 14 1718 c.1221A>G c.(1219-1221)ctA>ctG p.L407L HMMR_ENST00000358715.3_Silent_p.L521L|HMMR_ENST00000393915.4_Silent_p.L522L|HMMR_ENST00000432118.2_Silent_p.L435L|HMMR_ENST00000353866.3_Silent_p.L506L O75330 HMMR_HUMAN hyaluronan-mediated motility receptor (RHAMM) 521 cell surface|cytoplasm hyaluronic acid binding cervix(1)|kidney(3)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(1) 23 Renal(175;0.000281) Medulloblastoma(196;0.00853)|all_neural(177;0.0408) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0296)|OV - Ovarian serous cystadenocarcinoma(192;0.0423)|Epithelial(171;0.0848) AGTCAGCACTAAAGGAAACAG 0.343000 33 134 0 0 0.163468 0 0 QRICH2 84074 broad.mit.edu 37 17 74278089 74278089 + Silent SNP G G A TCGA-B4-5838-01A-11D-1669-08 TCGA-B4-5838-10A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14e44673-c942-45f2-a588-cae1d3655bb8 72b65a50-86e6-47ba-84a9-83c4c33496be g.chr17:74278089G>A ENST00000262765.5 - 8 3800 c.3621C>T c.(3619-3621)atC>atT p.I1207I NM_032134.1 NP_115510.1 Q9H0J4 QRIC2_HUMAN glutamine rich 2 1207 protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4) 62 CCTCAGGGTCGATCTGGCCAG 0.612000 4 29 0 0 0.150653 0 0 ALG13 79868 broad.mit.edu 37 X 110996020 110996020 + Missense_Mutation SNP A A G TCGA-B4-5838-01A-11D-1669-08 TCGA-B4-5838-10A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14e44673-c942-45f2-a588-cae1d3655bb8 72b65a50-86e6-47ba-84a9-83c4c33496be g.chrX:110996020A>G ENST00000394780.3 + 25 2947 c.2935A>G c.(2935-2937)Aca>Gca p.T979A ALG13_ENST00000251943.4_Missense_Mutation_p.T796A|ALG13_ENST00000470971.1_3'UTR NM_001099922.2|NM_001257231.1 NP_001093392.1|NP_001244160.1 Q9NP73 ALG13_HUMAN ALG13, UDP-N-acetylglucosaminyltransferase subunit 979 dolichol-linked oligosaccharide biosynthetic process|lipid glycosylation|post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane carbohydrate binding|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity p.T796S(1)|p.T301S(1)|p.T979S(1) endometrium(2)|lung(10)|skin(1) 13 AATTTTAGATACAAAAGTTTT 0.323000 9 9 0 0 0.047766 0 0 ZNF563 147837 broad.mit.edu 37 19 12429410 12429410 + Nonstop_Mutation SNP A A C TCGA-B4-5838-01A-11D-1669-08 TCGA-B4-5838-10A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14e44673-c942-45f2-a588-cae1d3655bb8 72b65a50-86e6-47ba-84a9-83c4c33496be g.chr19:12429410A>C ENST00000293725.5 - 4 1634 c.1429T>G c.(1429-1431)Tga>Gga p.*477G NM_145276.2 NP_660319.1 Q8TA94 ZN563_HUMAN zinc finger protein 563 0 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 GTTTACATTCATATTGTTTCT 0.363000 37 51 0 0 0.214465 0 0 SNHG14 104472715 broad.mit.edu 37 15 25332980 25332980 + RNA SNP A A G TCGA-B4-5838-01A-11D-1669-08 TCGA-B4-5838-10A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14e44673-c942-45f2-a588-cae1d3655bb8 72b65a50-86e6-47ba-84a9-83c4c33496be g.chr15:25332980A>G ENST00000546682.1 + 0 586 SNHG14_ENST00000549804.2_RNA|SNHG14_ENST00000553108.1_RNA NR_003361.1 GCGTCTGTTCAGGCTTAGAAT 0.498000 3 59 0 0 0.115264 0 0 AHNAK 79026 broad.mit.edu 37 11 62291579 62291579 + Missense_Mutation SNP C C G TCGA-B4-5838-01A-11D-1669-08 TCGA-B4-5838-10A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14e44673-c942-45f2-a588-cae1d3655bb8 72b65a50-86e6-47ba-84a9-83c4c33496be g.chr11:62291579C>G ENST00000378024.4 - 5 10584 c.10310G>C c.(10309-10311)gGt>gCt p.G3437A AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron NM_001620.1 NP_001611.1 Q09666 AHNK_HUMAN AHNAK nucleoprotein 3437 nervous system development nucleus protein binding NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 268 Melanoma(852;0.155) TAAATTGGGACCTGCAATATC 0.418000 20 71 0 0 0.189662 0 0 XPO7 23039 broad.mit.edu 37 8 21844736 21844736 + Missense_Mutation SNP T T G TCGA-B4-5838-01A-11D-1669-08 TCGA-B4-5838-10A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14e44673-c942-45f2-a588-cae1d3655bb8 72b65a50-86e6-47ba-84a9-83c4c33496be g.chr8:21844736T>G ENST00000434536.1 + 14 1791 c.1689T>G c.(1687-1689)ttT>ttG p.F563L XPO7_ENST00000433566.4_Missense_Mutation_p.F555L|XPO7_ENST00000252512.9_Missense_Mutation_p.F554L Q9UIA9 XPO7_HUMAN exportin 7 554 mRNA transport|protein export from nucleus|transmembrane transport cytoplasm|nuclear pore nuclear export signal receptor activity|protein transporter activity autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724) TGAGCTTTTTTGAACAGTTTC 0.493000 39 79 0 0 0.098360 0 0 HCFC1 3054 broad.mit.edu 37 X 153223256 153223256 + Missense_Mutation SNP C C G TCGA-B4-5838-01A-11D-1669-08 TCGA-B4-5838-10A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14e44673-c942-45f2-a588-cae1d3655bb8 72b65a50-86e6-47ba-84a9-83c4c33496be g.chrX:153223256C>G ENST00000310441.7 - 12 3076 c.2110G>C c.(2110-2112)Ggt>Cgt p.G704R HCFC1_ENST00000369984.4_Missense_Mutation_p.G704R|HCFC1_ENST00000354233.3_Missense_Mutation_p.G635R NM_005334.2 NP_005325.2 P51610 HCFC1_HUMAN host cell factor C1 (VP16-accessory protein) 704 Interaction with SIN3A. 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 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) GTCACAGGACCCGTGGACGCC 0.552000 25 18 0 0 0.108266 0 0 ZNF202 7753 broad.mit.edu 37 11 123597460 123597460 + Missense_Mutation SNP C C T TCGA-B4-5838-01A-11D-1669-08 TCGA-B4-5838-10A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14e44673-c942-45f2-a588-cae1d3655bb8 72b65a50-86e6-47ba-84a9-83c4c33496be g.chr11:123597460C>T ENST00000336139.4 - 8 1554 c.1192G>A c.(1192-1194)Gac>Aac p.D398N ZNF202_ENST00000530393.1_Missense_Mutation_p.D398N|ZNF202_ENST00000529691.1_Missense_Mutation_p.D398N O95125 ZN202_HUMAN zinc finger protein 202 398 lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 30 Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.03) ACAGAACAGTCATGATGCCTC 0.433000 43 83 0 0 0.124865 0 0 LAMA3 3909 broad.mit.edu 37 18 21470025 21470025 + Missense_Mutation SNP A A G TCGA-B4-5838-01A-11D-1669-08 TCGA-B4-5838-10A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14e44673-c942-45f2-a588-cae1d3655bb8 72b65a50-86e6-47ba-84a9-83c4c33496be g.chr18:21470025A>G ENST00000313654.9 + 42 5595 c.5354A>G c.(5353-5355)cAa>cGa p.Q1785R LAMA3_ENST00000399516.3_Missense_Mutation_p.Q1785R|LAMA3_ENST00000587184.1_Missense_Mutation_p.Q176R|LAMA3_ENST00000269217.6_Missense_Mutation_p.Q176R NM_198129.1 NP_937762.1 Q16787 LAMA3_HUMAN laminin, alpha 3 1785 Domain III A.|Laminin EGF-like 14. cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4) 128 all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GGTAGCTGCCAACCATGCAGT 0.498000 40 126 0 0 0.111260 0 0 TKT 7086 broad.mit.edu 37 3 53262142 53262142 + Missense_Mutation SNP G G T TCGA-B4-5838-01A-11D-1669-08 TCGA-B4-5838-10A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14e44673-c942-45f2-a588-cae1d3655bb8 72b65a50-86e6-47ba-84a9-83c4c33496be g.chr3:53262142G>T ENST00000462138.1 - 12 1591 c.1503C>A c.(1501-1503)gaC>gaA p.D501E TKT_ENST00000423516.1_Missense_Mutation_p.D509E|TKT_ENST00000461139.1_5'UTR|TKT_ENST00000423525.2_Missense_Mutation_p.D501E|TKT_ENST00000296289.6_Missense_Mutation_p.D454E P29401 TKT_HUMAN transketolase 501 energy reserve metabolic process|xylulose biosynthetic process cytosol protein binding|transketolase activity endometrium(5)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 17 Prostate(884;0.0959) BRCA - Breast invasive adenocarcinoma(193;0.000159)|OV - Ovarian serous cystadenocarcinoma(275;0.000314)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201) Thiamine(DB00152) CGGTCACCTGGTCATCCTTGC 0.622000 21 25 3.8784e-16 4.46225e-16 0.234183 1 0 CDK5R2 8941 broad.mit.edu 37 2 219825193 219825193 + Silent SNP C C T TCGA-B4-5838-01A-11D-1669-08 TCGA-B4-5838-10A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14e44673-c942-45f2-a588-cae1d3655bb8 72b65a50-86e6-47ba-84a9-83c4c33496be g.chr2:219825193C>T ENST00000302625.4 + 1 817 c.651C>T c.(649-651)gaC>gaT p.D217D AC097468.7_ENST00000429343.1_RNA NM_003936.4 NP_003927.1 Q13319 CD5R2_HUMAN cyclin-dependent kinase 5, regulatory subunit 2 (p39) 217 regulation of cyclin-dependent protein kinase activity cyclin-dependent protein kinase 5 holoenzyme complex cyclin-dependent protein kinase 5 activator activity central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(1)|ovary(1) 8 Renal(207;0.0474) Epithelial(149;9.77e-07)|all cancers(144;0.000167)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) GCGGTGTGGACCGCTCGCTGC 0.672000 19 52 0 0 0.204396 0 0 DCST2 127579 broad.mit.edu 37 1 155004243 155004243 + Silent SNP C C T TCGA-B4-5838-01A-11D-1669-08 TCGA-B4-5838-10A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14e44673-c942-45f2-a588-cae1d3655bb8 72b65a50-86e6-47ba-84a9-83c4c33496be g.chr1:155004243C>T ENST00000368424.3 - 4 604 c.546G>A c.(544-546)agG>agA p.R182R DCST2_ENST00000295536.5_Silent_p.R182R NM_144622.2 NP_653223.2 Q5T1A1 DCST2_HUMAN DC-STAMP domain containing 2 182 integral to membrane breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|prostate(1)|skin(1) 38 all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) BRCA - Breast invasive adenocarcinoma(34;0.00034) TCCGGAGAGCCCTGGCTGGGG 0.582000 3 26 0 0 0.184627 0 0 NSD1 64324 broad.mit.edu 37 5 176684057 176684057 + Missense_Mutation SNP C C A TCGA-B4-5838-01A-11D-1669-08 TCGA-B4-5838-10A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14e44673-c942-45f2-a588-cae1d3655bb8 72b65a50-86e6-47ba-84a9-83c4c33496be g.chr5:176684057C>A ENST00000439151.2 + 13 4916 c.4871C>A c.(4870-4872)cCa>cAa p.P1624Q NSD1_ENST00000347982.4_Missense_Mutation_p.P1355Q|NSD1_ENST00000354179.4_Missense_Mutation_p.P1355Q|NSD1_ENST00000361032.4_Missense_Mutation_p.P1521Q NM_022455.4 NP_071900.2 Q96L73 NSD1_HUMAN nuclear receptor binding SET domain protein 1 1624 negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3) 96 all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198) Kidney(146;0.235) CAGAAGTACCCACCCACTGTT 0.458000 T NUP98 AML Sotos Syndrome Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome HNSCC(47;0.14) 36 99 1.90571e-15 2.16926e-15 0.203993 1 0 CSMD1 64478 broad.mit.edu 37 8 3224564 3224564 + Silent SNP G G A TCGA-B4-5838-01A-11D-1669-08 TCGA-B4-5838-10A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14e44673-c942-45f2-a588-cae1d3655bb8 72b65a50-86e6-47ba-84a9-83c4c33496be g.chr8:3224564G>A ENST00000520002.1 - 21 3663 c.3108C>T c.(3106-3108)atC>atT p.I1036I CSMD1_ENST00000602723.1_Silent_p.I1036I|CSMD1_ENST00000400186.3_Silent_p.I1036I|CSMD1_ENST00000602557.1_Silent_p.I1036I|CSMD1_ENST00000542608.1_Silent_p.I1035I|CSMD1_ENST00000539096.1_Silent_p.I1035I|CSMD1_ENST00000537824.1_Silent_p.I1035I Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 1036 CUB 6. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) CTGAAAATGTGATATTGAAGC 0.453000 6 16 0 0 0.217242 0 0 HYDIN 54768 broad.mit.edu 37 16 70934923 70934923 + Missense_Mutation SNP T T A TCGA-B4-5838-01A-11D-1669-08 TCGA-B4-5838-10A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14e44673-c942-45f2-a588-cae1d3655bb8 72b65a50-86e6-47ba-84a9-83c4c33496be g.chr16:70934923T>A ENST00000393567.2 - 53 9182 c.9032A>T c.(9031-9033)aAg>aTg p.K3011M NM_001270974.1 NP_001257903.1 Q4G0P3 HYDIN_HUMAN HYDIN, axonemal central pair apparatus protein 3011 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 43 Ovarian(137;0.0654) CCGAATAGCCTTCTTGATGTT 0.517000 35 118 0 0 0.139131 0 0 FGF10 2255 broad.mit.edu 37 5 44388667 44388667 + Missense_Mutation SNP G G T rs146669375 TCGA-B4-5838-01A-11D-1669-08 TCGA-B4-5838-10A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14e44673-c942-45f2-a588-cae1d3655bb8 72b65a50-86e6-47ba-84a9-83c4c33496be g.chr5:44388667G>T ENST00000264664.4 - 1 232 c.118C>A c.(118-120)Ctt>Att p.L40I NM_004465.1 NP_004456.1 O15520 FGF10_HUMAN fibroblast growth factor 10 40 actin cytoskeleton reorganization|activation of MAPK activity|bud outgrowth involved in lung branching|ERK1 and ERK2 cascade|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|insulin receptor signaling pathway|lacrimal gland development|lung saccule development|mesonephros development|negative regulation of cell cycle arrest|positive regulation of ATPase activity|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of DNA repair|positive regulation of DNA replication|positive regulation of epithelial cell migration|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of ERK1 and ERK2 cascade|positive regulation of hair follicle cell proliferation|positive regulation of keratinocyte migration|positive regulation of keratinocyte proliferation|positive regulation of lymphocyte proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of Ras protein signal transduction|positive regulation of transcription, DNA-dependent|positive regulation of urothelial cell proliferation|protein localization at cell surface|radial glial cell differentiation|regulation of saliva secretion|response to protein stimulus|secretion by lung epithelial cell involved in lung growth|tear secretion|thymus development|urothelial cell proliferation cell surface|extracellular space|nucleus|plasma membrane chemoattractant activity|growth factor activity|heparin binding|type 2 fibroblast growth factor receptor binding haematopoietic_and_lymphoid_tissue(1)|lung(11)|skin(1) 13 Lung NSC(6;1.12e-06) TCCTGACCAAGGGCTTGGCAG 0.582000 19 44 2.89027e-11 3.18823e-11 0.069288 1 0 TMEM39A 55254 broad.mit.edu 37 3 119155755 119155755 + Missense_Mutation SNP A A C TCGA-B4-5838-01A-11D-1669-08 TCGA-B4-5838-10A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14e44673-c942-45f2-a588-cae1d3655bb8 72b65a50-86e6-47ba-84a9-83c4c33496be g.chr3:119155755A>C ENST00000319172.5 - 7 1415 c.995T>G c.(994-996)aTg>aGg p.M332R NM_018266.1 NP_060736.1 Q9NV64 TM39A_HUMAN transmembrane protein 39A 332 integral to membrane NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1) 13 GBM - Glioblastoma multiforme(114;0.244) CGTGGTGAGCATGACAAAAGC 0.468000 114 237 0 0 0.139131 0 0 CD163L1 283316 broad.mit.edu 37 12 7510009 7510009 + Silent SNP G G A TCGA-B4-5838-01A-11D-1669-08 TCGA-B4-5838-10A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14e44673-c942-45f2-a588-cae1d3655bb8 72b65a50-86e6-47ba-84a9-83c4c33496be g.chr12:7510009G>A ENST00000313599.3 - 19 4410 c.4353C>T c.(4351-4353)gcC>gcT p.A1451A CD163L1_ENST00000396630.1_Silent_p.A1419A|CD163L1_ENST00000416109.2_Silent_p.A1461A Q9NR16 C163B_HUMAN CD163 molecule-like 1 1451 extracellular region|integral to membrane|plasma membrane scavenger receptor activity breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4) 96 GTCATTTTGTGGCTTCAGAGG 0.418000 17 45 0 0 0.219247 0 0 RARS 5917 broad.mit.edu 37 5 167922351 167922351 + Missense_Mutation SNP C C G TCGA-B4-5838-01A-11D-1669-08 TCGA-B4-5838-10A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14e44673-c942-45f2-a588-cae1d3655bb8 72b65a50-86e6-47ba-84a9-83c4c33496be g.chr5:167922351C>G ENST00000231572.3 + 6 665 c.611C>G c.(610-612)gCt>gGt p.A204G RARS_ENST00000538719.1_5'UTR NM_002887.3 NP_002878.2 P54136 SYRC_HUMAN arginyl-tRNA synthetase 204 arginyl-tRNA aminoacylation cytosol|nucleus|soluble fraction arginine-tRNA ligase activity|ATP binding|protein binding breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|stomach(1) 22 Renal(175;0.000159)|Lung NSC(126;0.0875)|all_lung(126;0.166) Medulloblastoma(196;0.0208)|all_neural(177;0.0227) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0693)|Epithelial(171;0.131)|OV - Ovarian serous cystadenocarcinoma(192;0.156) CCTAATATAGCTAAAGAGATG 0.418000 95 286 0 0 0.139131 0 0 ZNRF4 148066 broad.mit.edu 37 19 5455579 5455579 + Missense_Mutation SNP A A G TCGA-B4-5838-01A-11D-1669-08 TCGA-B4-5838-10A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14e44673-c942-45f2-a588-cae1d3655bb8 72b65a50-86e6-47ba-84a9-83c4c33496be g.chr19:5455579A>G ENST00000222033.4 + 1 154 c.77A>G c.(76-78)cAc>cGc p.H26R NM_181710.3 NP_859061.3 Q8WWF5 ZNRF4_HUMAN zinc and ring finger 4 26 integral to membrane zinc ion binding NS(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 16 UCEC - Uterine corpus endometrioid carcinoma (162;0.0002) CCTCTGAGCCACGCGGTCATT 0.662000 12 49 0 0 0.105934 0 0 GAS2 2620 broad.mit.edu 37 11 22770733 22770733 + Missense_Mutation SNP G G A TCGA-B4-5838-01A-11D-1669-08 TCGA-B4-5838-10A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14e44673-c942-45f2-a588-cae1d3655bb8 72b65a50-86e6-47ba-84a9-83c4c33496be g.chr11:22770733G>A ENST00000454584.2 + 6 846 c.541G>A c.(541-543)Gcc>Acc p.A181T GAS2_ENST00000433790.1_Missense_Mutation_p.A181T|GAS2_ENST00000278187.3_Missense_Mutation_p.A181T NM_001143830.1 NP_001137302.1 O43903 GAS2_HUMAN growth arrest-specific 2 181 cell cycle arrest|cellular component disassembly involved in apoptosis|regulation of cell shape actin filament|cytosol|membrane breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(4)|stomach(1) 24 AACACTTTCTGCCCCTTCTCC 0.393000 9 72 0 0 0.047766 0 0 SRRT 51593 broad.mit.edu 37 7 100485480 100485480 + Splice_Site SNP A A G TCGA-B4-5838-01A-11D-1669-08 TCGA-B4-5838-10A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14e44673-c942-45f2-a588-cae1d3655bb8 72b65a50-86e6-47ba-84a9-83c4c33496be g.chr7:100485480A>G ENST00000388793.4 + 17 2543 c.2323_splice c.e17+1 p.I775_splice SRRT_ENST00000432932.1_Splice_Site_p.S775_splice|SRRT_ENST00000457580.2_Splice_Site_p.S776_splice|SRRT_ENST00000347433.4_Splice_Site_p.I776_splice NM_001128852.1|NM_015908.5 NP_001122324.1|NP_056992.4 Q9BXP5 SRRT_HUMAN serrate RNA effector molecule homolog (Arabidopsis) 776 Pro-rich. cell proliferation|primary miRNA processing|response to arsenic-containing substance cytoplasm|nucleoplasm protein binding breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 40 CCCCGCCCAGAGTAAGATACG 0.532000 18 77 0 0 0.069288 0 0 TRAF6 7189 broad.mit.edu 37 11 36511852 36511852 + Missense_Mutation SNP C C T TCGA-B4-5838-01A-11D-1669-08 TCGA-B4-5838-10A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14e44673-c942-45f2-a588-cae1d3655bb8 72b65a50-86e6-47ba-84a9-83c4c33496be g.chr11:36511852C>T ENST00000526995.1 - 7 1351 c.1105G>A c.(1105-1107)Gag>Aag p.E369K TRAF6_ENST00000348124.5_Missense_Mutation_p.E369K NM_004620.3 NP_004611.1 Q9Y4K3 TRAF6_HUMAN TNF receptor-associated factor 6, E3 ubiquitin protein ligase 369 MATH. activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|ossification|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of osteoclast differentiation|positive regulation of T cell cytokine production|protein autoubiquitination|protein K63-linked ubiquitination|response to interleukin-1|stress-activated MAPK cascade|T cell receptor signaling pathway|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 CD40 receptor complex|cell cortex|cytosol|endosome membrane|internal side of plasma membrane|nuclear membrane histone deacetylase binding|mitogen-activated protein kinase kinase kinase binding|protein kinase B binding|protein N-terminus binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1) 27 all_lung(20;0.211) all_hematologic(20;0.107) GGTTTCTCCTCTTCTTGACAT 0.453000 23 95 0 0 0.076483 0 0 EP400 57634 broad.mit.edu 37 12 132547093 132547093 + Silent SNP A A G rs60608267 by1000genomes TCGA-B4-5838-01A-11D-1669-08 TCGA-B4-5838-10A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14e44673-c942-45f2-a588-cae1d3655bb8 72b65a50-86e6-47ba-84a9-83c4c33496be g.chr12:132547093A>G ENST00000333577.4 + 48 8398 c.8289A>G c.(8287-8289)caA>caG p.Q2763Q EP400_ENST00000389561.2_Silent_p.Q2727Q|EP400_ENST00000330386.6_Silent_p.Q2646Q|EP400_ENST00000332482.4_Silent_p.Q2690Q|EP400_ENST00000389562.2_Silent_p.Q2726Q Q96L91 EP400_HUMAN E1A binding protein p400 2763 Interaction with ZNF42 (By similarity).|Poly-Gln. histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity p.Q2726Q(9) NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 161 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) agcagcaacaacagcagcagc 0.567000 4 40 0 0 0.150653 0 0 TSTD2 158427 broad.mit.edu 37 9 100367110 100367110 + Missense_Mutation SNP A A T TCGA-B4-5838-01A-11D-1669-08 TCGA-B4-5838-10A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14e44673-c942-45f2-a588-cae1d3655bb8 72b65a50-86e6-47ba-84a9-83c4c33496be g.chr9:100367110A>T ENST00000341170.4 - 9 1533 c.1151T>A c.(1150-1152)aTc>aAc p.I384N TSTD2_ENST00000375172.2_Missense_Mutation_p.I158N|TSTD2_ENST00000375165.1_Missense_Mutation_p.I124N|TSTD2_ENST00000354801.2_Missense_Mutation_p.I124N NM_139246.4 NP_640339.4 Q5T7W7 TSTD2_HUMAN thiosulfate sulfurtransferase (rhodanese)-like domain containing 2 384 Rhodanese. large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 15 GTACTTGTGGATGCCACCCTT 0.473000 17 49 0 0 0.189662 0 0 EP400 57634 broad.mit.edu 37 12 132547087 132547087 + Silent SNP G G A rs12366766 TCGA-B4-5838-01A-11D-1669-08 TCGA-B4-5838-10A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14e44673-c942-45f2-a588-cae1d3655bb8 72b65a50-86e6-47ba-84a9-83c4c33496be g.chr12:132547087G>A ENST00000333577.4 + 48 8392 c.8283G>A c.(8281-8283)caG>caA p.Q2761Q EP400_ENST00000389561.2_Silent_p.Q2725Q|EP400_ENST00000330386.6_Silent_p.Q2644Q|EP400_ENST00000332482.4_Silent_p.Q2688Q|EP400_ENST00000389562.2_Silent_p.Q2724Q Q96L91 EP400_HUMAN E1A binding protein p400 2761 Interaction with ZNF42 (By similarity).|Poly-Gln. histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity p.Q2724Q(16)|p.Q2725Q(1) NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 161 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) agcagcagcagcaacaacagc 0.562000 5 43 0 0 0.184627 0 0 GPT 2875 broad.mit.edu 37 8 145730220 145730220 + Missense_Mutation SNP A A G TCGA-B4-5838-01A-11D-1669-08 TCGA-B4-5838-10A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14e44673-c942-45f2-a588-cae1d3655bb8 72b65a50-86e6-47ba-84a9-83c4c33496be g.chr8:145730220A>G ENST00000394955.2 + 3 542 c.319A>G c.(319-321)Agg>Ggg p.R107G GPT_ENST00000528431.1_Missense_Mutation_p.R107G NM_005309.2 NP_005300.1 P24298 ALAT1_HUMAN glutamic-pyruvate transaminase (alanine aminotransferase) 107 gluconeogenesis cytosol 1-aminocyclopropane-1-carboxylate synthase activity|L-alanine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding central_nervous_system(1)|endometrium(1)|lung(2)|ovary(1) 5 all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055) L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114) TGCCAAGAAAAGGGCGGAGCG 0.632000 68 196 0 0 0.139131 0 0 CUX1 1523 broad.mit.edu 37 7 101754986 101754986 + Missense_Mutation SNP A A C TCGA-B4-5838-01A-11D-1669-08 TCGA-B4-5838-10A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14e44673-c942-45f2-a588-cae1d3655bb8 72b65a50-86e6-47ba-84a9-83c4c33496be g.chr7:101754986A>C ENST00000360264.3 + 7 592 c.572A>C c.(571-573)cAg>cCg p.Q191P CUX1_ENST00000550008.2_Missense_Mutation_p.Q180P|CUX1_ENST00000547394.2_Missense_Mutation_p.Q175P|CUX1_ENST00000437600.4_Missense_Mutation_p.Q191P|CUX1_ENST00000560541.1_3'UTR|CUX1_ENST00000292535.7_Missense_Mutation_p.Q180P|CUX1_ENST00000292538.4_Missense_Mutation_p.Q191P|CUX1_ENST00000549414.2_Missense_Mutation_p.Q180P|CUX1_ENST00000546411.2_Missense_Mutation_p.Q180P|CUX1_ENST00000425244.2_Missense_Mutation_p.Q145P|CUX1_ENST00000393824.3_Missense_Mutation_p.Q154P|CUX1_ENST00000556210.1_Missense_Mutation_p.Q180P NM_001202543.1 NP_001189472.1 P39880 CUX1_HUMAN cut-like homeobox 1 180 negative regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5) 70 AGAAAGCTGCAGGAGACACAG 0.507000 10 40 0 0 0.058154 0 0 IGKV1D-42 28892 broad.mit.edu 37 2 90229367 90229367 + RNA SNP G G A TCGA-B4-5838-01A-11D-1669-08 TCGA-B4-5838-10A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14e44673-c942-45f2-a588-cae1d3655bb8 72b65a50-86e6-47ba-84a9-83c4c33496be g.chr2:90229367G>A ENST00000390278.2 + 0 207 GCAGAAACCAGGGAAATCCCC 0.493000 6 88 0 0 0.217242 0 0 ITGA7 3679 broad.mit.edu 37 12 56101360 56101360 + Missense_Mutation SNP A A G TCGA-B4-5838-01A-11D-1669-08 TCGA-B4-5838-10A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14e44673-c942-45f2-a588-cae1d3655bb8 72b65a50-86e6-47ba-84a9-83c4c33496be g.chr12:56101360A>G ENST00000257880.7 - 1 326 c.107T>C c.(106-108)cTg>cCg p.L36P ITGA7_ENST00000555728.1_Missense_Mutation_p.L36P|ITGA7_ENST00000452168.2_Intron|ITGA7_ENST00000394229.2_Missense_Mutation_p.L36P|ITGA7_ENST00000394230.2_Missense_Mutation_p.L36P|ITGA7_ENST00000347027.6_Missense_Mutation_p.L36P|ITGA7_ENST00000257879.6_Missense_Mutation_p.L36P|ITGA7_ENST00000553804.1_Missense_Mutation_p.L36P Q13683 ITA7_HUMAN integrin, alpha 7 36 cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape integrin complex receptor activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 50 CATCACGTCCAGATTGAAGGC 0.662000 5 20 0 0 0.029380 0 0 RAPSN 5913 broad.mit.edu 37 11 47463274 47463274 + Silent SNP G G T TCGA-B4-5838-01A-11D-1669-08 TCGA-B4-5838-10A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14e44673-c942-45f2-a588-cae1d3655bb8 72b65a50-86e6-47ba-84a9-83c4c33496be g.chr11:47463274G>T ENST00000298854.2 - 5 1014 c.801C>A c.(799-801)ccC>ccA p.P267P RAPSN_ENST00000528356.1_5'UTR|RAPSN_ENST00000529341.1_Intron|RAPSN_ENST00000352508.3_Intron|RAPSN_ENST00000524487.1_Silent_p.P214P NM_005055.4 NP_005046.2 Q13702 RAPSN_HUMAN receptor-associated protein of the synapse 267 synaptic transmission, cholinergic cell junction|cytoskeleton|postsynaptic membrane acetylcholine receptor binding|zinc ion binding endometrium(1)|large_intestine(3)|lung(6)|ovary(2) 12 AGTCGTACCTGGGGAAGGCTG 0.667000 3 27 0.115264 0.120914 0.115264 1 0 FAM129B 64855 broad.mit.edu 37 9 130287400 130287400 + Missense_Mutation SNP C C T TCGA-B4-5838-01A-11D-1669-08 TCGA-B4-5838-10A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14e44673-c942-45f2-a588-cae1d3655bb8 72b65a50-86e6-47ba-84a9-83c4c33496be g.chr9:130287400C>T ENST00000373312.3 - 4 571 c.358G>A c.(358-360)Gca>Aca p.A120T FAM129B_ENST00000468379.1_5'UTR|FAM129B_ENST00000373314.3_Missense_Mutation_p.A107T NM_022833.2 NP_073744.2 Q96TA1 NIBL1_HUMAN family with sequence similarity 129, member B 120 PH. protein binding breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 25 TTGTAGCCTGCACTGTTGATG 0.587000 4 58 0 0 0.184627 0 0 RPL21 6144 broad.mit.edu 37 13 27828378 27828378 + Missense_Mutation SNP A A T TCGA-B4-5838-01A-11D-1669-08 TCGA-B4-5838-10A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14e44673-c942-45f2-a588-cae1d3655bb8 72b65a50-86e6-47ba-84a9-83c4c33496be g.chr13:27828378A>T ENST00000311549.6 + 3 378 c.89A>T c.(88-90)tAt>tTt p.Y30F RPL21_ENST00000326092.4_Missense_Mutation_p.Y30F|RPL21_ENST00000319826.4_Missense_Mutation_p.Y30F|RPL21_ENST00000272274.4_Missense_Mutation_p.Y30F NM_000982.3 NP_000973.2 P46778 RL21_HUMAN ribosomal protein L21 30 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit RNA binding|structural constituent of ribosome large_intestine(1)|lung(1) 2 Lung SC(185;0.0156) Colorectal(13;0.00042)|READ - Rectum adenocarcinoma(15;0.105) all cancers(112;0.0287)|OV - Ovarian serous cystadenocarcinoma(117;0.118)|Epithelial(112;0.139)|GBM - Glioblastoma multiforme(144;0.21) TTGGCCACATATATGCGAATC 0.289000 12 81 0 0 0.093190 0 0 IQGAP3 128239 broad.mit.edu 37 1 156521627 156521627 + Missense_Mutation SNP A A G TCGA-B4-5838-01A-11D-1669-08 TCGA-B4-5838-10A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14e44673-c942-45f2-a588-cae1d3655bb8 72b65a50-86e6-47ba-84a9-83c4c33496be g.chr1:156521627A>G ENST00000361170.2 - 15 1614 c.1604T>C c.(1603-1605)cTg>cCg p.L535P NM_178229.4 NP_839943.2 Q86VI3 IQGA3_HUMAN IQ motif containing GTPase activating protein 3 535 small GTPase mediated signal transduction intracellular calmodulin binding|Ras GTPase activator activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3) 75 all_hematologic(923;0.088)|Hepatocellular(266;0.158) GCCTTTGTCCAGAGCCTCATT 0.572000 25 61 0 0 0.099896 0 0 WDR96 80217 broad.mit.edu 37 10 105990520 105990520 + Missense_Mutation SNP T T C TCGA-B4-5838-01A-11D-1669-08 TCGA-B4-5838-10A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14e44673-c942-45f2-a588-cae1d3655bb8 72b65a50-86e6-47ba-84a9-83c4c33496be g.chr10:105990520T>C ENST00000357060.3 - 2 262 c.147A>G c.(145-147)atA>atG p.I49M WDR96_ENST00000278064.2_De_novo_Start_InFrame|WDR96_ENST00000428666.1_Missense_Mutation_p.I49M|WDR96_ENST00000369719.1_De_novo_Start_InFrame|WDR96_ENST00000369720.1_De_novo_Start_InFrame NM_025145.5 NP_079421.5 Q8NDM7 WDR96_HUMAN WD repeat domain 96 49 NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 72 TATTAATAAATATTACATAAT 0.388000 24 59 0 0 0.069288 0 0 UBE2O 63893 broad.mit.edu 37 17 74392603 74392603 + Silent SNP G G A TCGA-B4-5838-01A-11D-1669-08 TCGA-B4-5838-10A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14e44673-c942-45f2-a588-cae1d3655bb8 72b65a50-86e6-47ba-84a9-83c4c33496be g.chr17:74392603G>A ENST00000319380.7 - 14 2479 c.2415C>T c.(2413-2415)gaC>gaT p.D805D NM_022066.3 NP_071349.3 Q9C0C9 UBE2O_HUMAN ubiquitin-conjugating enzyme E2O 805 ATP binding|ubiquitin-protein ligase activity breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 36 TGGGTGGCCCGTCCTTGCCAG 0.632000 8 262 0 0 0.047766 0 0 EXOC1 55763 broad.mit.edu 37 4 56768547 56768547 + Missense_Mutation SNP G G A TCGA-B4-5838-01A-11D-1669-08 TCGA-B4-5838-10A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14e44673-c942-45f2-a588-cae1d3655bb8 72b65a50-86e6-47ba-84a9-83c4c33496be g.chr4:56768547G>A ENST00000381295.2 + 18 2723 c.2375G>A c.(2374-2376)gGc>gAc p.G792D EXOC1_ENST00000346134.7_Missense_Mutation_p.G792D|EXOC1_ENST00000349598.6_Missense_Mutation_p.G777D NM_001024924.1 NP_001020095.1 Q9NV70 EXOC1_HUMAN exocyst complex component 1 792 exocytosis|protein transport exocyst protein binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|skin(4)|upper_aerodigestive_tract(1) 35 Glioma(25;0.08)|all_neural(26;0.101) GTGGCACAGGGCATAAGGGAG 0.363000 3 60 0 0 0.150653 0 0 MGAT4A 11320 broad.mit.edu 37 2 99294822 99294822 + Missense_Mutation SNP G G C TCGA-B4-5838-01A-11D-1669-08 TCGA-B4-5838-10A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14e44673-c942-45f2-a588-cae1d3655bb8 72b65a50-86e6-47ba-84a9-83c4c33496be g.chr2:99294822G>C ENST00000393487.1 - 3 520 c.207C>G c.(205-207)ttC>ttG p.F69L MGAT4A_ENST00000409391.1_Missense_Mutation_p.F69L|MGAT4A_ENST00000264968.2_Missense_Mutation_p.F69L NM_012214.2 NP_036346.1 Q9UM21 MGT4A_HUMAN mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme A 69 N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine extracellular region|Golgi membrane|integral to membrane alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|stomach(1) 19 CTACACGCTTGAACTGTTGCA 0.333000 41 113 0 0 0.139131 0 0 ZNF845 91664 broad.mit.edu 37 19 53856730 53856730 + Silent SNP G G A TCGA-B4-5838-01A-11D-1669-08 TCGA-B4-5838-10A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14e44673-c942-45f2-a588-cae1d3655bb8 72b65a50-86e6-47ba-84a9-83c4c33496be g.chr19:53856730G>A ENST00000458035.1 + 4 2919 c.2802G>A c.(2800-2802)aaG>aaA p.K934K ZNF845_ENST00000595091.1_Silent_p.K934K NM_138374.1 NP_612383.1 Q96IR2 ZN845_HUMAN zinc finger protein 845 934 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.K934K(3) endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2) 26 TAATTCATAAGACAATTCATA 0.368000 3 40 0 0 0.150653 0 0 GCK 2645 broad.mit.edu 37 7 44191996 44191996 + Silent SNP C C G TCGA-B4-5838-01A-11D-1669-08 TCGA-B4-5838-10A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14e44673-c942-45f2-a588-cae1d3655bb8 72b65a50-86e6-47ba-84a9-83c4c33496be g.chr7:44191996C>G ENST00000403799.3 - 3 706 c.237G>C c.(235-237)ctG>ctC p.L79L GCK_ENST00000395796.3_Silent_p.L78L|GCK_ENST00000345378.2_Silent_p.L80L|GCK_ENST00000437084.1_Silent_p.L79L NM_000162.3 NP_000153.1 P35557 HXK4_HUMAN glucokinase (hexokinase 4) 79 cellular response to insulin stimulus|cellular response to leptin stimulus|detection of glucose|endocrine pancreas development|glucose homeostasis|glucose transport|glycolysis|negative regulation of gluconeogenesis|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|regulation of glucose transport|regulation of glycolysis|transmembrane transport cytosol|nucleoplasm ATP binding|glucokinase activity|glucose binding|protein binding central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1) 37 TAGTGCCACCCAGGTCCAGGG 0.607000 25 92 0 0 0.076483 0 0 CELSR1 9620 broad.mit.edu 37 22 46806460 46806460 + Splice_Site SNP T T G TCGA-B4-5838-01A-11D-1669-08 TCGA-B4-5838-10A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14e44673-c942-45f2-a588-cae1d3655bb8 72b65a50-86e6-47ba-84a9-83c4c33496be g.chr22:46806460T>G ENST00000262738.3 - 7 4769 c.e7-2 NM_014246.1 NP_055061.1 Q9NYQ6 CELR1_HUMAN cadherin, EGF LAG seven-pass G-type receptor 1 central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway integral to plasma membrane calcium ion binding|G-protein coupled receptor activity|protein dimerization activity breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3) 95 Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766) UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171) TCCAGGGACCTGGGTAGGTAA 0.632000 24 51 0 0 0.076483 0 0 ZNF219 51222 broad.mit.edu 37 14 21559281 21559281 + Missense_Mutation SNP C C G TCGA-B4-5838-01A-11D-1669-08 TCGA-B4-5838-10A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14e44673-c942-45f2-a588-cae1d3655bb8 72b65a50-86e6-47ba-84a9-83c4c33496be g.chr14:21559281C>G ENST00000360947.3 - 5 1994 c.1583G>C c.(1582-1584)tGt>tCt p.C528S ZNF219_ENST00000451119.2_Missense_Mutation_p.C528S|RP11-998D10.7_ENST00000554733.2_lincRNA|ZNF219_ENST00000421093.2_Missense_Mutation_p.C528S NM_016423.2 NP_057507.2 Q9P2Y4 ZN219_HUMAN zinc finger protein 219 528 negative regulation of transcription, DNA-dependent integral to membrane|nucleus DNA binding|histamine receptor activity|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(2) 8 all_cancers(95;0.00185) OV - Ovarian serous cystadenocarcinoma(11;9.86e-11)|Epithelial(56;1.27e-08)|all cancers(55;6.06e-08) GBM - Glioblastoma multiforme(265;0.0191) GCAGTGCGGACACTTGTAGGG 0.672000 3 1 0 0 0.115264 0 0 SEC22B 9554 broad.mit.edu 37 1 145116147 145116148 + RNA INS - - A rs138980379 TCGA-B4-5838-01A-11D-1669-08 TCGA-B4-5838-10A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14e44673-c942-45f2-a588-cae1d3655bb8 72b65a50-86e6-47ba-84a9-83c4c33496be g.chr1:145116147_145116148insA ENST00000453618.1 + 0 1233_1234 O75396 SC22B_HUMAN SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene) ER to Golgi vesicle-mediated transport|protein transport endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome protein binding AGTAGATTGTTATTTCGTTTTT 0.416 2 4 --- --- --- --- LIMS2 55679 broad.mit.edu 37 2 128398541 128398547 + Frame_Shift_Del DEL TCACACT TCACACT - TCGA-B4-5838-01A-11D-1669-08 TCGA-B4-5838-10A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14e44673-c942-45f2-a588-cae1d3655bb8 72b65a50-86e6-47ba-84a9-83c4c33496be g.chr2:128398541_128398547delTCACACT ENST00000409455.1 - 7 1297_1303 c.662_668delAGTGTGA c.(661-669)agfs p.KCE221fs LIMS2_ENST00000409254.1_Frame_Shift_Del_p.KCE74fs|LIMS2_ENST00000324938.5_Frame_Shift_Del_p.KCE250fs|LIMS2_ENST00000410038.1_Frame_Shift_Del_p.KCE74fs|LIMS2_ENST00000355119.4_Frame_Shift_Del_p.KCE226fs|LIMS2_ENST00000409754.1_Frame_Shift_Del_p.KCE74fs|LIMS2_ENST00000409808.2_Frame_Shift_Del_p.KCE221fs|LIMS2_ENST00000545738.2_Frame_Shift_Del_p.KCE248fs|LIMS2_ENST00000409286.1_Frame_Shift_Del_p.KCE74fs|LIMS2_ENST00000410011.1_Frame_Shift_Del_p.KCE221fs Q7Z4I7 LIMS2_HUMAN LIM and senescent cell antigen-like domains 2 226 LIM zinc-binding 4. cell junction assembly cytosol|focal adhesion|nucleus zinc ion binding endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0681) GAATGGCTTCTCACACTTGGCACAGAC 0.614 24 91 --- --- --- --- BAP1 8314 broad.mit.edu 37 3 52436403 52436403 + Frame_Shift_Del DEL G G - TCGA-B4-5838-01A-11D-1669-08 TCGA-B4-5838-10A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14e44673-c942-45f2-a588-cae1d3655bb8 72b65a50-86e6-47ba-84a9-83c4c33496be g.chr3:52436403delG ENST00000460680.1 - 17 2562 c.2091delC c.(2089-2091)tcfs p.S697fs BAP1_ENST00000296288.5_Frame_Shift_Del_p.S679fs NM_004656.2 NP_004647.1 Q92560 BAP1_HUMAN BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase) 697 Interaction with BRCA1. monoubiquitinated histone H2A deubiquitination|negative regulation of cell proliferation|protein K48-linked deubiquitination|regulation of cell cycle|regulation of cell growth|ubiquitin-dependent protein catabolic process cytoplasm|nucleolus|PR-DUB complex chromatin binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity p.Q694fs*14(1) NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2) 180 BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277) GCCGCCGCACGGAGATGTTCT 0.652 """N, Mis, F, S, O""" """uveal melanoma, breast, NSCLC, RCC""" """mesothelioma, uveal melanoma""" 4 4 --- --- --- --- MCM9 254394 broad.mit.edu 37 6 119252784 119252784 + Frame_Shift_Del DEL A A - TCGA-B4-5838-01A-11D-1669-08 TCGA-B4-5838-10A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14e44673-c942-45f2-a588-cae1d3655bb8 72b65a50-86e6-47ba-84a9-83c4c33496be g.chr6:119252784delA ENST00000316316.6 - 2 391 c.105delT c.(103-105)gafs p.D35fs MCM9_ENST00000316068.3_Frame_Shift_Del_p.D35fs NM_017696.2 NP_060166.2 Q9NXL9 MCM9_HUMAN minichromosome maintenance complex component 9 35 DNA replication ATP binding|DNA binding|nucleoside-triphosphatase activity cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 all_cancers(87;0.122)|all_epithelial(87;0.179) GBM - Glioblastoma multiforme(226;0.0676)|OV - Ovarian serous cystadenocarcinoma(136;0.194) GGTAATGAGCATCTTCATCCC 0.388 16 114 --- --- --- --- AQP1 358 broad.mit.edu 37 7 30951547 30951552 + In_Frame_Del DEL AGCTCT AGCTCT - TCGA-B4-5838-01A-11D-1669-08 TCGA-B4-5838-10A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14e44673-c942-45f2-a588-cae1d3655bb8 72b65a50-86e6-47ba-84a9-83c4c33496be g.chr7:30951547_30951552delAGCTCT ENST00000311813.4 + 1 78_83 c.23_28delAGCTCT c.(22-30)atc>a p.KLF8del AQP1_ENST00000434909.2_Intron|AQP1_ENST00000509504.1_Intron NM_198098.2 NP_932766.1 aquaporin 1 kidney(1)|large_intestine(2)|lung(9) 12 Melanoma(862;0.16) TTCAAGAAGAAGCTCTTCTGGAGGGC 0.617 16 71 --- --- --- --- GRM5 2915 broad.mit.edu 37 11 88242235 88242235 + Frame_Shift_Del DEL C C - TCGA-B4-5838-01A-11D-1669-08 TCGA-B4-5838-10A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14e44673-c942-45f2-a588-cae1d3655bb8 72b65a50-86e6-47ba-84a9-83c4c33496be g.chr11:88242235delC ENST00000418177.2 - 10 3531 c.3164delG c.(3163-3165)gcfs p.G1055fs GRM5_ENST00000455756.2_Frame_Shift_Del_p.G1023fs|GRM5_ENST00000305432.5_Frame_Shift_Del_p.G1023fs|GRM5_ENST00000393297.1_Intron|GRM5-AS1_ENST00000526448.1_RNA|GRM5_ENST00000305447.4_Frame_Shift_Del_p.G1055fs P41594 GRM5_HUMAN glutamate receptor, metabotropic 5 1055 activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 90 Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834) Acamprosate(DB00659) CATGAGGGAGCCCTGCGAGGA 0.692 2 4 --- --- --- --- CLEC17A 388512 broad.mit.edu 37 19 14698466 14698467 + Frame_Shift_Ins INS - - TT TCGA-B4-5838-01A-11D-1669-08 TCGA-B4-5838-10A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14e44673-c942-45f2-a588-cae1d3655bb8 72b65a50-86e6-47ba-84a9-83c4c33496be g.chr19:14698466_14698467insTT ENST00000547437.1 + 3 239_240 c.162_163insTT c.(160-165)aacaacfs p.N55fs CLEC17A_ENST00000417570.1_Frame_Shift_Ins_p.N55fs|CLEC17A_ENST00000397439.2_Frame_Shift_Ins_p.N55fs NM_207390.3 NP_997273.3 Q6ZS10 CL17A_HUMAN C-type lectin domain family 17, member A 55 cell surface|integral to membrane fucose binding|mannose binding|metal ion binding|receptor activity ACTATGAGAACTCAACACCTCC 0.569 7 21 --- --- --- --- PRR12 57479 broad.mit.edu 37 19 50118194 50118194 + Frame_Shift_Del DEL A A - TCGA-B4-5838-01A-11D-1669-08 TCGA-B4-5838-10A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14e44673-c942-45f2-a588-cae1d3655bb8 72b65a50-86e6-47ba-84a9-83c4c33496be g.chr19:50118194delA ENST00000418929.2 + 8 4964 c.4952delA c.(4951-4953)gafs p.E1651fs NM_020719.1 NP_065770.1 Q9ULL5 PRR12_HUMAN proline rich 12 830 DNA binding NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2) 11 all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887) OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132) AAGTTCCTGGAAAATGTCAAT 0.512 28 79 --- --- --- --- SYNJ1 8867 broad.mit.edu 37 21 34012084 34012084 + Frame_Shift_Del DEL A A - TCGA-B4-5838-01A-11D-1669-08 TCGA-B4-5838-10A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14e44673-c942-45f2-a588-cae1d3655bb8 72b65a50-86e6-47ba-84a9-83c4c33496be g.chr21:34012084delA ENST00000382499.2 - 30 3710 c.3711delT c.(3709-3711)atfs p.I1237fs SYNJ1_ENST00000433931.2_Frame_Shift_Del_p.I1237fs|SYNJ1_ENST00000382491.3_Frame_Shift_Del_p.I1151fs|SYNJ1_ENST00000357345.3_Frame_Shift_Del_p.I1182fs|SYNJ1_ENST00000322229.7_Frame_Shift_Del_p.I1198fs NM_203446.2 NP_982271.2 O43426 SYNJ1_HUMAN synaptojanin 1 1198 Pro-rich. inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 57 CACGAGGAGGAATCGTCTACA 0.443 18 47 --- --- --- --- NUDT11 55190 broad.mit.edu 37 X 51239296 51239309 + Translation_Start_Site DEL TCCTCGAGGCAGCC TCCTCGAGGCAGCC - rs78182391 TCGA-B4-5838-01A-11D-1669-08 TCGA-B4-5838-10A-01D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14e44673-c942-45f2-a588-cae1d3655bb8 72b65a50-86e6-47ba-84a9-83c4c33496be g.chrX:51239296_51239309delTCCTCGAGGCAGCC ENST00000375992.3 - 0 139_152 NM_018159.3 NP_060629.2 Q96G61 NUD11_HUMAN nudix (nucleoside diphosphate linked moiety X)-type motif 11 cytoplasm diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding p.?(5) breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2) 9 Ovarian(276;0.236) TTGCACTTCATCCTCGAGGCAGCCTCCTCGAGGC 0.692 HNSCC(48;0.14) 3 4 --- --- --- ---