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 TTC37 9652 broad.mit.edu 37 5 94833132 94833132 + Silent SNP T T C TCGA-D6-8569-01A-11D-2394-08 TCGA-D6-8569-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94b593da-a73a-40cd-bd87-1bac2ef88892 2980a1f4-2730-42c0-80af-7efc1d0b6f23 g.chr5:94833132T>C ENST00000358746.2 - 34 3922 c.3624A>G c.(3622-3624)caA>caG p.Q1208Q NM_014639.3 NP_055454.1 Q6PGP7 TTC37_HUMAN tetratricopeptide repeat domain 37 1208 binding breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1) 47 TTGCATTTCGTTGAGCATACT 0.368000 11 22 0 0 1 0 0 HIST1H3B 8358 broad.mit.edu 37 6 26032097 26032097 + Silent SNP C C T TCGA-D6-8569-01A-11D-2394-08 TCGA-D6-8569-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94b593da-a73a-40cd-bd87-1bac2ef88892 2980a1f4-2730-42c0-80af-7efc1d0b6f23 g.chr6:26032097C>T ENST00000244661.2 - 1 191 c.192G>A c.(190-192)cgG>cgA p.R64R NM_003537.3 NP_003528.1 P68431 H31_HUMAN histone cluster 1, H3b 64 blood coagulation|nucleosome assembly|regulation of gene silencing|S phase nucleoplasm|nucleosome DNA binding|protein binding breast(3)|central_nervous_system(10)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1) 25 ACGGCAGCTTCCGAATCAGCA 0.622000 15 111 0 0 1 0 0 WDR17 116966 broad.mit.edu 37 4 177032852 177032852 + Missense_Mutation SNP C C A TCGA-D6-8569-01A-11D-2394-08 TCGA-D6-8569-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94b593da-a73a-40cd-bd87-1bac2ef88892 2980a1f4-2730-42c0-80af-7efc1d0b6f23 g.chr4:177032852C>A ENST00000393643.2 + 2 373 c.121C>A c.(121-123)Cag>Aag p.Q41K WDR17_ENST00000507824.2_Missense_Mutation_p.Q65K|WDR17_ENST00000508596.1_Missense_Mutation_p.Q41K|WDR17_ENST00000280190.4_Missense_Mutation_p.Q65K NM_170710.4 NP_733828.2 Q8IZU2 WDR17_HUMAN WD repeat domain 17 65 breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 92 Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232) CTATATTTATCAGGTAAAATA 0.343000 9 28 2.74318e-10 3.13506e-10 1 1 0 CLEC4D 338339 broad.mit.edu 37 12 8673786 8673786 + Silent SNP A A G TCGA-D6-8569-01A-11D-2394-08 TCGA-D6-8569-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94b593da-a73a-40cd-bd87-1bac2ef88892 2980a1f4-2730-42c0-80af-7efc1d0b6f23 g.chr12:8673786A>G ENST00000299665.2 + 6 760 c.567A>G c.(565-567)caA>caG p.Q189Q NM_080387.4 NP_525126.2 Q8WXI8 CLC4D_HUMAN C-type lectin domain family 4, member D 189 C-type lectin. innate immune response integral to membrane sugar binding large_intestine(4)|lung(6)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 14 Lung SC(5;0.184) TTTATAACCAAGATAAATGGG 0.368000 6 51 0 0 1 0 0 KIF21B 23046 broad.mit.edu 37 1 200978027 200978027 + Missense_Mutation SNP G G A rs140589352 byFrequency TCGA-D6-8569-01A-11D-2394-08 TCGA-D6-8569-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94b593da-a73a-40cd-bd87-1bac2ef88892 2980a1f4-2730-42c0-80af-7efc1d0b6f23 g.chr1:200978027G>A ENST00000332129.2 - 3 633 c.317C>T c.(316-318)tCg>tTg p.S106L KIF21B_ENST00000422435.2_Missense_Mutation_p.S106L|KIF21B_ENST00000360529.5_Missense_Mutation_p.S106L|KIF21B_ENST00000461742.2_Missense_Mutation_p.S106L NM_001252102.1|NM_001252103.1|NM_017596.3 NP_001239031.1|NP_001239032.1|NP_060066.2 O75037 KI21B_HUMAN kinesin family member 21B 106 Kinesin-motor. microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2) 83 CTCCTCCTCCGACGTTGCCAT 0.642000 6 101 0 0 1 0 0 SSX2IP 117178 broad.mit.edu 37 1 85135479 85135479 + Missense_Mutation SNP T T A TCGA-D6-8569-01A-11D-2394-08 TCGA-D6-8569-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94b593da-a73a-40cd-bd87-1bac2ef88892 2980a1f4-2730-42c0-80af-7efc1d0b6f23 g.chr1:85135479T>A ENST00000437941.2 - 3 582 c.230A>T c.(229-231)aAt>aTt p.N77I SSX2IP_ENST00000603677.1_Intron|SSX2IP_ENST00000370612.4_Missense_Mutation_p.N104I|SSX2IP_ENST00000605755.1_Missense_Mutation_p.N77I|SSX2IP_ENST00000342203.3_Missense_Mutation_p.N104I NM_001166295.1|NM_001166417.1 NP_001159767.1|NP_001159889.1 Q9Y2D8 ADIP_HUMAN synovial sarcoma, X breakpoint 2 interacting protein 104 cell adhesion nucleus|protein complex endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|urinary_tract(1) 19 all cancers(265;0.0053)|Epithelial(280;0.0214)|OV - Ovarian serous cystadenocarcinoma(397;0.173) AAGCAGCTCATTCATACAATT 0.393000 14 82 0 0 1 0 0 CYP2A13 1553 broad.mit.edu 37 19 41594866 41594866 + Silent SNP T T A TCGA-D6-8569-01A-11D-2394-08 TCGA-D6-8569-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94b593da-a73a-40cd-bd87-1bac2ef88892 2980a1f4-2730-42c0-80af-7efc1d0b6f23 g.chr19:41594866T>A ENST00000330436.3 + 2 213 c.213T>A c.(211-213)atT>atA p.I71I NM_000766.4 NP_000757.2 Q16696 CP2AD_HUMAN cytochrome P450, family 2, subfamily A, polypeptide 13 71 xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|heme binding breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2) 42 Clomipramine(DB01242)|Nicotine(DB00184) TGTTCACCATTCACTTGGGGC 0.632000 32 33 0 0 1 0 0 NPAS4 266743 broad.mit.edu 37 11 66191788 66191788 + Missense_Mutation SNP C C G TCGA-D6-8569-01A-11D-2394-08 TCGA-D6-8569-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94b593da-a73a-40cd-bd87-1bac2ef88892 2980a1f4-2730-42c0-80af-7efc1d0b6f23 g.chr11:66191788C>G ENST00000311034.2 + 7 1603 c.1427C>G c.(1426-1428)aCc>aGc p.T476S NM_178864.3 NP_849195.2 Q8IUM7 NPAS4_HUMAN neuronal PAS domain protein 4 476 transcription, DNA-dependent DNA binding|signal transducer activity breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3) 49 AGCAGTGCAACCTTCCCAGAT 0.552000 50 302 0 0 1 0 0 COL6A3 1293 broad.mit.edu 37 2 238253474 238253474 + Missense_Mutation SNP C C A TCGA-D6-8569-01A-11D-2394-08 TCGA-D6-8569-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94b593da-a73a-40cd-bd87-1bac2ef88892 2980a1f4-2730-42c0-80af-7efc1d0b6f23 g.chr2:238253474C>A ENST00000295550.4 - 36 7639 c.7187G>T c.(7186-7188)tGc>tTc p.C2396F COL6A3_ENST00000346358.4_Missense_Mutation_p.C2196F|COL6A3_ENST00000472056.1_Missense_Mutation_p.C1789F|COL6A3_ENST00000353578.4_Missense_Mutation_p.C2190F|COL6A3_ENST00000409809.1_Missense_Mutation_p.C2190F|COL6A3_ENST00000347401.3_Missense_Mutation_p.C2195F NM_004369.3 NP_004360.2 P12111 CO6A3_HUMAN collagen, type VI, alpha 3 2396 Nonhelical region. axon guidance|cell adhesion|muscle organ development collagen type VI|extracellular space serine-type endopeptidase inhibitor activity breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 217 Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203) Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034) GAAGACGGGGCACTCCAGGGG 0.498000 29 60 1.16021e-09 1.29238e-09 1 1 0 SBNO2 22904 broad.mit.edu 37 19 1112834 1112834 + Missense_Mutation SNP A A G TCGA-D6-8569-01A-11D-2394-08 TCGA-D6-8569-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94b593da-a73a-40cd-bd87-1bac2ef88892 2980a1f4-2730-42c0-80af-7efc1d0b6f23 g.chr19:1112834A>G ENST00000361757.3 - 20 2599 c.2362T>C c.(2362-2364)Ttc>Ctc p.F788L SBNO2_ENST00000587024.1_Missense_Mutation_p.F778L|SBNO2_ENST00000438103.2_Missense_Mutation_p.F731L NM_014963.2 NP_055778.2 Q9Y2G9 SBNO2_HUMAN strawberry notch homolog 2 (Drosophila) 788 macrophage activation involved in immune response|negative regulation of transcription, DNA-dependent|regulation of inflammatory response|transcription, DNA-dependent NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137) 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)|STAD - Stomach adenocarcinoma(1328;0.18) CCGCTCATGAAGCGCTGCTTC 0.701000 2 3 0 0 1 0 0 THBS4 7060 broad.mit.edu 37 5 79372811 79372811 + Missense_Mutation SNP G G A TCGA-D6-8569-01A-11D-2394-08 TCGA-D6-8569-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94b593da-a73a-40cd-bd87-1bac2ef88892 2980a1f4-2730-42c0-80af-7efc1d0b6f23 g.chr5:79372811G>A ENST00000350881.2 + 16 2216 c.2026G>A c.(2026-2028)Gtg>Atg p.V676M THBS4_ENST00000511733.1_Missense_Mutation_p.V585M|CTD-2201I18.1_ENST00000514042.1_RNA|CTD-2201I18.1_ENST00000503007.1_RNA NM_003248.4 NP_003239.2 P35443 TSP4_HUMAN thrombospondin 4 676 endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation basement membrane|extracellular space calcium ion binding|heparin binding|integrin binding|structural molecule activity breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3) 34 Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261) OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34) CCCAGACCTGGTGCCCCCTGG 0.587000 66 154 0 0 1 0 0 TPTE 7179 broad.mit.edu 37 21 10969096 10969096 + Missense_Mutation SNP C C A TCGA-D6-8569-01A-11D-2394-08 TCGA-D6-8569-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94b593da-a73a-40cd-bd87-1bac2ef88892 2980a1f4-2730-42c0-80af-7efc1d0b6f23 g.chr21:10969096C>A ENST00000361285.4 - 7 481 c.152G>T c.(151-153)cGg>cTg p.R51L TPTE_ENST00000342420.5_Intron|TPTE_ENST00000298232.7_Intron|TPTE_ENST00000415664.2_Intron NM_199261.2 NP_954870.2 P56180 TPTE_HUMAN transmembrane phosphatase with tensin homology 51 signal transduction integral to membrane ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1) 130 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) AGGTGACACCCGGGCTGCTCC 0.453000 11 143 6.81908e-15 8.05475e-15 1 1 0 MAP9 79884 broad.mit.edu 37 4 156294557 156294557 + Missense_Mutation SNP T T C TCGA-D6-8569-01A-11D-2394-08 TCGA-D6-8569-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94b593da-a73a-40cd-bd87-1bac2ef88892 2980a1f4-2730-42c0-80af-7efc1d0b6f23 g.chr4:156294557T>C ENST00000311277.4 - 4 475 c.212A>G c.(211-213)aAa>aGa p.K71R MAP9_ENST00000379248.2_5'UTR|AC097467.2_ENST00000596165.1_RNA|MAP9_ENST00000515654.1_Missense_Mutation_p.K71R NM_001039580.1 NP_001034669.1 Q49MG5 MAP9_HUMAN microtubule-associated protein 9 71 cell division|mitosis cytoplasm|microtubule|spindle NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 26 all_hematologic(180;0.24) Renal(120;0.0458) COAD - Colon adenocarcinoma(41;0.143) ATTCATTTTTTTATTAACTGA 0.254000 8 13 0 0 1 0 0 KRTAP5-1 387264 broad.mit.edu 37 11 1605717 1605717 + Nonsense_Mutation SNP G G A rs148201859 TCGA-D6-8569-01A-11D-2394-08 TCGA-D6-8569-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94b593da-a73a-40cd-bd87-1bac2ef88892 2980a1f4-2730-42c0-80af-7efc1d0b6f23 g.chr11:1605717G>A ENST00000382171.2 - 1 796 c.763C>T c.(763-765)Caa>Taa p.Q255* KRTAP5-AS1_ENST00000532922.1_RNA|KRTAP5-AS1_ENST00000534077.1_RNA|KRTAP5-AS1_ENST00000424148.1_RNA|KRTAP5-AS1_ENST00000524947.1_RNA NM_001005922.1 NP_001005922.1 Q6L8H4 KRA51_HUMAN keratin associated protein 5-1 255 8 X 4 AA repeats of C-C-X-P. keratin filament endometrium(3)|kidney(1)|lung(9)|skin(2)|upper_aerodigestive_tract(1) 16 all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082) CAGCTGGATTGGCAACAGGAT 0.592000 50 158 0 0 1 0 0 EME2 197342 broad.mit.edu 37 16 1825247 1825247 + Silent SNP C C G TCGA-D6-8569-01A-11D-2394-08 TCGA-D6-8569-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94b593da-a73a-40cd-bd87-1bac2ef88892 2980a1f4-2730-42c0-80af-7efc1d0b6f23 g.chr16:1825247C>G ENST00000307394.7 + 5 633 c.633C>G c.(631-633)ctC>ctG p.L211L EME2_ENST00000568449.1_Intron A4GXA9 EME2_HUMAN essential meiotic structure-specific endonuclease subunit 2 190 DNA recombination|DNA repair nucleus DNA binding|endonuclease activity central_nervous_system(1)|kidney(2)|lung(5)|pancreas(1) 9 CAGGTGGGCTCTGGCAGAGGC 0.672000 Direct reversal of damage;Homologous recombination 7 43 0 0 1 0 0 ARHGAP31 57514 broad.mit.edu 37 3 119133117 119133117 + Missense_Mutation SNP C C A TCGA-D6-8569-01A-11D-2394-08 TCGA-D6-8569-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94b593da-a73a-40cd-bd87-1bac2ef88892 2980a1f4-2730-42c0-80af-7efc1d0b6f23 g.chr3:119133117C>A ENST00000264245.4 + 12 2873 c.2341C>A c.(2341-2343)Ctc>Atc p.L781I NM_020754.2 NP_065805.2 Q2M1Z3 RHG31_HUMAN Rho GTPase activating protein 31 781 Pro-rich. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|focal adhesion|lamellipodium GTPase activator activity breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 67 GTCTCCTCCACTCCCACCTGC 0.557000 48 72 3.86361e-14 4.5333e-14 1 1 0 ZNF787 126208 broad.mit.edu 37 19 56600191 56600191 + Missense_Mutation SNP G G A TCGA-D6-8569-01A-11D-2394-08 TCGA-D6-8569-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94b593da-a73a-40cd-bd87-1bac2ef88892 2980a1f4-2730-42c0-80af-7efc1d0b6f23 g.chr19:56600191G>A ENST00000270459.3 - 3 468 c.350C>T c.(349-351)aCg>aTg p.T117M NM_001002836.2 NP_001002836.2 Q6DD87 ZN787_HUMAN zinc finger protein 787 117 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(1)|lung(2)|pancreas(1) 5 Colorectal(82;3.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0559) CTTCTCGCCCGTGTGGATGCG 0.682000 5 8 0 0 1 0 0 EPHA7 2045 broad.mit.edu 37 6 93956664 93956664 + Missense_Mutation SNP G G A TCGA-D6-8569-01A-11D-2394-08 TCGA-D6-8569-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94b593da-a73a-40cd-bd87-1bac2ef88892 2980a1f4-2730-42c0-80af-7efc1d0b6f23 g.chr6:93956664G>A ENST00000369303.4 - 15 2756 c.2572C>T c.(2572-2574)Ccc>Tcc p.P858S NM_004440.3 NP_004431.1 Q15375 EPHA7_HUMAN EPH receptor A7 858 Protein kinase. integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1) 112 all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142) BRCA - Breast invasive adenocarcinoma(108;0.0847) CAGTCCATGGGTGCTGGTAAA 0.378000 16 28 0 0 1 0 0 CRTAC1 55118 broad.mit.edu 37 10 99683126 99683126 + Silent SNP C C T TCGA-D6-8569-01A-11D-2394-08 TCGA-D6-8569-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94b593da-a73a-40cd-bd87-1bac2ef88892 2980a1f4-2730-42c0-80af-7efc1d0b6f23 g.chr10:99683126C>T ENST00000370597.3 - 4 808 c.453G>A c.(451-453)aaG>aaA p.K151K CRTAC1_ENST00000370591.2_Silent_p.K151K|CRTAC1_ENST00000298819.4_Silent_p.K151K NM_018058.6 NP_060528.3 Q9NQ79 CRAC1_HUMAN cartilage acidic protein 1 151 proteinaceous extracellular matrix calcium ion binding autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(6)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1) 35 Colorectal(252;0.24) Epithelial(162;2.18e-10)|all cancers(201;3.27e-09) TATTGCGGAACTTGAACAACT 0.587000 11 46 0 0 1 0 0 ARHGEF6 9459 broad.mit.edu 37 X 135750260 135750260 + Silent SNP C C T TCGA-D6-8569-01A-11D-2394-08 TCGA-D6-8569-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94b593da-a73a-40cd-bd87-1bac2ef88892 2980a1f4-2730-42c0-80af-7efc1d0b6f23 g.chrX:135750260C>T ENST00000250617.6 - 22 3464 c.2259G>A c.(2257-2259)gtG>gtA p.V753V ARHGEF6_ENST00000370620.1_Silent_p.V599V|ARHGEF6_ENST00000370622.1_Silent_p.V599V|ARHGEF6_ENST00000535227.1_Silent_p.V626V NM_004840.2 NP_004831.1 Q15052 ARHG6_HUMAN Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6 753 apoptosis|cell junction assembly|induction of apoptosis by extracellular signals|JNK cascade|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|Rho guanyl-nucleotide exchange factor activity cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(1)|lung(14)|prostate(1) 38 Acute lymphoblastic leukemia(192;0.000127) AAAGCCTCCGCACCAGCTTTT 0.433000 52 18 0 0 1 0 0 PPAT 5471 broad.mit.edu 37 4 57301515 57301515 + Splice_Site SNP C C A TCGA-D6-8569-01A-11D-2394-08 TCGA-D6-8569-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94b593da-a73a-40cd-bd87-1bac2ef88892 2980a1f4-2730-42c0-80af-7efc1d0b6f23 g.chr4:57301515C>A ENST00000264220.2 - 1 266 c.e1+1 NM_002703.4 NP_002694.3 Q06203 PUR1_HUMAN phosphoribosyl pyrophosphate amidotransferase glutamine metabolic process|nucleoside metabolic process|purine base biosynthetic process|purine ribonucleoside monophosphate biosynthetic process cytosol 4 iron, 4 sulfur cluster binding|amidophosphoribosyltransferase activity|metal ion binding cervix(1)|endometrium(2)|large_intestine(6)|lung(8)|prostate(2)|upper_aerodigestive_tract(1) 20 Glioma(25;0.08)|all_neural(26;0.101) L-Glutamine(DB00130)|Thioguanine(DB00352) CTGTTGCTCACCGGTGCTGCA 0.677000 27 56 1.99505e-19 2.42158e-19 1 1 0 MMP15 4324 broad.mit.edu 37 16 58076155 58076155 + Silent SNP C C T TCGA-D6-8569-01A-11D-2394-08 TCGA-D6-8569-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94b593da-a73a-40cd-bd87-1bac2ef88892 2980a1f4-2730-42c0-80af-7efc1d0b6f23 g.chr16:58076155C>T ENST00000219271.3 + 7 1970 c.1185C>T c.(1183-1185)gtC>gtT p.V395V NM_002428.2 NP_002419.1 P51511 MMP15_HUMAN matrix metallopeptidase 15 (membrane-inserted) 395 Hemopexin-like 1. protein modification process|proteolysis extracellular matrix|integral to plasma membrane calcium ion binding|enzyme activator activity|metalloendopeptidase activity|protein binding|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 18 TCTGGCGAGTCCGGCACAACC 0.657000 10 30 0 0 1 0 0 LRIG2 9860 broad.mit.edu 37 1 113657172 113657172 + Missense_Mutation SNP C C T TCGA-D6-8569-01A-11D-2394-08 TCGA-D6-8569-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94b593da-a73a-40cd-bd87-1bac2ef88892 2980a1f4-2730-42c0-80af-7efc1d0b6f23 g.chr1:113657172C>T ENST00000361127.4 + 15 2402 c.2204C>T c.(2203-2205)cCt>cTt p.P735L LRIG2_ENST00000492207.1_3'UTR NM_014813.1 NP_055628.1 O94898 LRIG2_HUMAN leucine-rich repeats and immunoglobulin-like domains 2 735 Ig-like C2-type 3. 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) GATGATGGGCCTTTGCTGGTG 0.493000 22 74 0 0 1 0 0 LCLAT1 253558 broad.mit.edu 37 2 30756078 30756078 + Missense_Mutation SNP A A G TCGA-D6-8569-01A-11D-2394-08 TCGA-D6-8569-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94b593da-a73a-40cd-bd87-1bac2ef88892 2980a1f4-2730-42c0-80af-7efc1d0b6f23 g.chr2:30756078A>G ENST00000309052.4 + 4 585 c.376A>G c.(376-378)Aga>Gga p.R126G LCLAT1_ENST00000379509.3_Missense_Mutation_p.R88G|LCLAT1_ENST00000359433.1_Missense_Mutation_p.R126G|LCLAT1_ENST00000540623.1_Missense_Mutation_p.R88G|LCLAT1_ENST00000319406.4_Missense_Mutation_p.R126G|LCLAT1_ENST00000491680.2_3'UTR NM_182551.3 NP_872357.2 Q6UWP7 LCLT1_HUMAN lysocardiolipin acyltransferase 1 126 multicellular organismal development|phospholipid biosynthetic process endoplasmic reticulum membrane|integral to membrane 1-acylglycerol-3-phosphate O-acyltransferase activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(2) 19 CCATCGGACAAGAATGGACTG 0.418000 75 135 0 0 1 0 0 PRAMEF18 391003 broad.mit.edu 37 1 13475069 13475069 + Missense_Mutation SNP G G C TCGA-D6-8569-01A-11D-2394-08 TCGA-D6-8569-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94b593da-a73a-40cd-bd87-1bac2ef88892 2980a1f4-2730-42c0-80af-7efc1d0b6f23 g.chr1:13475069G>C ENST00000376126.2 - 3 1059 c.1060C>G c.(1060-1062)Ctc>Gtc p.L354V NM_001099850.1 NP_001093320.1 Q5VWM3 PRA18_HUMAN PRAME family member 18 354 lung(2)|ovary(1) 3 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) ACTAAGAAGAGGGTCTGAAGA 0.547000 78 197 0 0 1 0 0 CMTR1 23070 broad.mit.edu 37 6 37427342 37427342 + Splice_Site SNP G G A TCGA-D6-8569-01A-11D-2394-08 TCGA-D6-8569-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94b593da-a73a-40cd-bd87-1bac2ef88892 2980a1f4-2730-42c0-80af-7efc1d0b6f23 g.chr6:37427342G>A ENST00000373451.4 + 10 1141 c.976_splice c.e10-1 p.G326_splice NM_015050.2 NP_055865.1 Q8N1G2 MTR1_HUMAN 326 mRNA capping cytoplasm|nucleus mRNA (nucleoside-2'-O-)-methyltransferase activity|nucleic acid binding breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(6)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(2) 31 ATTCTGACAGGTGAGGGTGGG 0.502000 39 57 0 0 1 0 0 NBEA 26960 broad.mit.edu 37 13 35630239 35630239 + Silent SNP T T C TCGA-D6-8569-01A-11D-2394-08 TCGA-D6-8569-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94b593da-a73a-40cd-bd87-1bac2ef88892 2980a1f4-2730-42c0-80af-7efc1d0b6f23 g.chr13:35630239T>C ENST00000400445.3 + 7 1599 c.1065T>C c.(1063-1065)gaT>gaC p.D355D NBEA_ENST00000310336.4_Silent_p.D355D|NBEA_ENST00000540320.1_Silent_p.D355D|NBEA_ENST00000379939.2_Silent_p.D355D NM_015678.4 NP_056493.3 Q8NFP9 NBEA_HUMAN neurobeachin 355 cytosol|endomembrane system|plasma membrane|trans-Golgi network protein binding NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 108 Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207) all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199) CTTATGGTGATATGGCTTGGC 0.323000 5 44 0 0 1 0 0 PTCHD3P1 387647 broad.mit.edu 37 10 29704286 29704286 + RNA SNP C C G TCGA-D6-8569-01A-11D-2394-08 TCGA-D6-8569-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94b593da-a73a-40cd-bd87-1bac2ef88892 2980a1f4-2730-42c0-80af-7efc1d0b6f23 g.chr10:29704286C>G ENST00000427063.2 + 0 88 PTCHD3P1_ENST00000455774.1_RNA|PTCHD3P1_ENST00000445521.1_RNA|PTCHD3P1_ENST00000430295.1_RNA|PTCHD3P1_ENST00000423223.1_RNA|PTCHD3P1_ENST00000414457.1_RNA|PTCHD3P1_ENST00000438202.1_RNA|PTCHD3P1_ENST00000446807.1_RNA|PTCHD3P1_ENST00000413405.1_RNA|PTCHD3P1_ENST00000537908.1_RNA NR_003930.1 TCTCTTTCAGCCTGCTCTTGA 0.308000 12 33 0 0 1 0 0 S100A7A 338324 broad.mit.edu 37 1 153391748 153391748 + Missense_Mutation SNP G G T TCGA-D6-8569-01A-11D-2394-08 TCGA-D6-8569-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94b593da-a73a-40cd-bd87-1bac2ef88892 2980a1f4-2730-42c0-80af-7efc1d0b6f23 g.chr1:153391748G>T ENST00000368729.4 + 3 326 c.269G>T c.(268-270)aGc>aTc p.S90I S100A7A_ENST00000368728.2_Missense_Mutation_p.S90I|S100A7A_ENST00000329256.2_Missense_Mutation_p.S90I NM_176823.3 NP_789793.1 Q86SG5 S1A7A_HUMAN S100 calcium binding protein A7A 90 cytoplasm calcium ion binding cervix(1)|endometrium(3)|kidney(1)|lung(3)|prostate(1)|skin(2)|stomach(1) 12 all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.171) CACAAGCAGAGCCATGGAGCG 0.527000 8 51 0.000274275 0.000282295 1 1 0 TSHB 7252 broad.mit.edu 37 1 115576008 115576008 + Missense_Mutation SNP A A G TCGA-D6-8569-01A-11D-2394-08 TCGA-D6-8569-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94b593da-a73a-40cd-bd87-1bac2ef88892 2980a1f4-2730-42c0-80af-7efc1d0b6f23 g.chr1:115576008A>G ENST00000256592.1 + 2 93 c.25A>G c.(25-27)Atg>Gtg p.M9V TSHB_ENST00000369517.1_Missense_Mutation_p.M9V NM_000549.3|NM_001277991.1 NP_000540.2|NP_001264920.1 P01222 TSHB_HUMAN thyroid stimulating hormone, beta 9 anatomical structure morphogenesis|cell-cell signaling|cellular nitrogen compound metabolic process|G-protein coupled receptor protein signaling pathway|hormone biosynthetic process|peptide hormone processing extracellular region hormone activity breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1) 7 Lung SC(450;0.211) all_cancers(81;3.22e-07)|all_epithelial(167;1.4e-06)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179) TCTGATGTCCATGCTTTTTGG 0.368000 24 52 0 0 1 0 0 SPHKAP 80309 broad.mit.edu 37 2 228890246 228890246 + Splice_Site SNP T T A TCGA-D6-8569-01A-11D-2394-08 TCGA-D6-8569-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94b593da-a73a-40cd-bd87-1bac2ef88892 2980a1f4-2730-42c0-80af-7efc1d0b6f23 g.chr2:228890246T>A ENST00000392056.3 - 5 353 c.e5-2 SPHKAP_ENST00000344657.5_Splice_Site NM_001142644.1 NP_001136116.1 Q2M3C7 SPKAP_HUMAN SPHK1 interactor, AKAP domain containing cytoplasm protein binding NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 185 Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23) Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232) GACCAGTTTCTGTAAAGCAAG 0.343000 19 50 0 0 1 0 0 AKAP8L 26993 broad.mit.edu 37 19 15514303 15514303 + Silent SNP G G A TCGA-D6-8569-01A-11D-2394-08 TCGA-D6-8569-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94b593da-a73a-40cd-bd87-1bac2ef88892 2980a1f4-2730-42c0-80af-7efc1d0b6f23 g.chr19:15514303G>A ENST00000397410.4 - 4 409 c.345C>T c.(343-345)taC>taT p.Y115Y AKAP8L_ENST00000595136.1_5'UTR|AKAP8L_ENST00000595465.1_Intron NM_014371.2 NP_055186.2 Q9ULX6 AKP8L_HUMAN A kinase (PRKA) anchor protein 8-like 115 cytoplasm|nuclear matrix DEAD/H-box RNA helicase binding|DNA binding|zinc ion binding central_nervous_system(1)|endometrium(4)|kidney(2)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1) 11 CACCTGAGCCGTACACGCCTC 0.577000 5 76 0 0 1 0 0 BRAP 8315 broad.mit.edu 37 12 112110580 112110580 + Splice_Site SNP T T C TCGA-D6-8569-01A-11D-2394-08 TCGA-D6-8569-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94b593da-a73a-40cd-bd87-1bac2ef88892 2980a1f4-2730-42c0-80af-7efc1d0b6f23 g.chr12:112110580T>C ENST00000419234.4 - 5 827 c.e5-2 BRAP_ENST00000539060.1_Intron|BRAP_ENST00000327551.6_Splice_Site NM_006768.3 NP_006759.3 Q7Z569 BRAP_HUMAN BRCA1 associated protein MAPKKK cascade|negative regulation of signal transduction|Ras protein signal transduction cytoplasm|ubiquitin ligase complex identical protein binding|nuclear localization sequence binding|nucleotide binding|ubiquitin-protein ligase activity|zinc ion binding cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1) 20 CGCATCAGCCTATGTACACCA 0.383000 20 42 0 0 1 0 0 BAI3 577 broad.mit.edu 37 6 70049284 70049284 + Missense_Mutation SNP C C A TCGA-D6-8569-01A-11D-2394-08 TCGA-D6-8569-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94b593da-a73a-40cd-bd87-1bac2ef88892 2980a1f4-2730-42c0-80af-7efc1d0b6f23 g.chr6:70049284C>A ENST00000370598.1 + 26 4168 c.3347C>A c.(3346-3348)gCg>gAg p.A1116E BAI3_ENST00000546190.1_Missense_Mutation_p.A80E|BAI3_ENST00000238918.8_Missense_Mutation_p.A322E NM_001704.2 NP_001695.1 O60242 BAI3_HUMAN brain-specific angiogenesis inhibitor 3 1116 negative regulation of angiogenesis|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 210 all_lung(197;0.212) TGGATGTCTGCGGTTCTGGCC 0.443000 55 104 2.14255e-21 2.63698e-21 1 1 0 SEMA3A 10371 broad.mit.edu 37 7 83640336 83640336 + Splice_Site SNP A A G TCGA-D6-8569-01A-11D-2394-08 TCGA-D6-8569-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94b593da-a73a-40cd-bd87-1bac2ef88892 2980a1f4-2730-42c0-80af-7efc1d0b6f23 g.chr7:83640336A>G ENST00000265362.3 - 9 1310 c.e9+1 SEMA3A_ENST00000436949.1_Splice_Site NM_006080.2 NP_006071.1 Q14563 SEM3A_HUMAN sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A axon guidance extracellular region|membrane receptor activity breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 53 AAAGTTACTTACCTGGAAGTC 0.303000 12 37 0 0 1 0 0 DMRT3 58524 broad.mit.edu 37 9 990875 990875 + Missense_Mutation SNP C C T TCGA-D6-8569-01A-11D-2394-08 TCGA-D6-8569-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94b593da-a73a-40cd-bd87-1bac2ef88892 2980a1f4-2730-42c0-80af-7efc1d0b6f23 g.chr9:990875C>T ENST00000190165.2 + 2 1327 c.1289C>T c.(1288-1290)aCg>aTg p.T430M NM_021240.2 NP_067063.1 Q9NQL9 DMRT3_HUMAN doublesex and mab-3 related transcription factor 3 430 cell differentiation|multicellular organismal development|sex differentiation nucleus DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 26 all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08) Lung(218;0.0196) GCCCGCGCCACGGAAGACCCT 0.552000 17 26 0 0 1 0 0 DPYD 1806 broad.mit.edu 37 1 98205982 98205982 + Missense_Mutation SNP T T A TCGA-D6-8569-01A-11D-2394-08 TCGA-D6-8569-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94b593da-a73a-40cd-bd87-1bac2ef88892 2980a1f4-2730-42c0-80af-7efc1d0b6f23 g.chr1:98205982T>A ENST00000370192.3 - 4 387 c.287A>T c.(286-288)gAt>gTt p.D96V DPYD_ENST00000423006.2_Missense_Mutation_p.D59V|DPYD_ENST00000306031.5_Missense_Mutation_p.D96V NM_000110.3 NP_000101.2 Q12882 DPYD_HUMAN dihydropyrimidine dehydrogenase 96 4Fe-4S ferredoxin-type 1. 'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process cytosol 4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1) 83 all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994) Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216) Capecitabine(DB01101)|Enfuvirtide(DB00109) TGATTTAATATCAAGATTAGT 0.328000 20 82 0 0 1 0 0 DPEP2 64174 broad.mit.edu 37 16 68026031 68026031 + Silent SNP C C T TCGA-D6-8569-01A-11D-2394-08 TCGA-D6-8569-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94b593da-a73a-40cd-bd87-1bac2ef88892 2980a1f4-2730-42c0-80af-7efc1d0b6f23 g.chr16:68026031C>T ENST00000412757.2 - 5 1121 c.456G>A c.(454-456)caG>caA p.Q152Q DPEP2_ENST00000393847.1_Silent_p.Q152Q|DPEP2_ENST00000572888.1_Silent_p.Q152Q Q9H4A9 DPEP2_HUMAN dipeptidase 2 152 hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|proteolysis anchored to membrane|plasma membrane dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|skin(2)|upper_aerodigestive_tract(1) 17 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0489)|all cancers(182;0.239) TGAGGTCAATCTGCTCCAGGG 0.582000 29 82 0 0 1 0 0 FGFBP2 83888 broad.mit.edu 37 4 15964361 15964361 + Missense_Mutation SNP G G A TCGA-D6-8569-01A-11D-2394-08 TCGA-D6-8569-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94b593da-a73a-40cd-bd87-1bac2ef88892 2980a1f4-2730-42c0-80af-7efc1d0b6f23 g.chr4:15964361G>A ENST00000259989.6 - 1 498 c.392C>T c.(391-393)tCc>tTc p.S131F FGFBP2_ENST00000509331.1_Intron NM_031950.3 NP_114156.1 Q9BYJ0 FGFP2_HUMAN fibroblast growth factor binding protein 2 131 extracellular space growth factor binding central_nervous_system(1)|lung(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 9 CTTGAGGCTGGAAGTCACCTG 0.647000 26 64 0 0 1 0 0 CRB2 286204 broad.mit.edu 37 9 126134519 126134519 + Missense_Mutation SNP C C T TCGA-D6-8569-01A-11D-2394-08 TCGA-D6-8569-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94b593da-a73a-40cd-bd87-1bac2ef88892 2980a1f4-2730-42c0-80af-7efc1d0b6f23 g.chr9:126134519C>T ENST00000373631.3 + 9 2501 c.2500C>T c.(2500-2502)Cct>Tct p.P834S CRB2_ENST00000359999.3_Missense_Mutation_p.P834S|CRB2_ENST00000373629.2_Missense_Mutation_p.P502S NM_173689.5 NP_775960.4 Q5IJ48 CRUM2_HUMAN crumbs homolog 2 (Drosophila) 834 EGF-like 11. extracellular region|integral to membrane|plasma membrane calcium ion binding NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3) 23 CTGTACCTGCCCTGCCAATTT 0.622000 23 50 0 0 1 0 0 CEP192 55125 broad.mit.edu 37 18 13072783 13072783 + Missense_Mutation SNP C C A TCGA-D6-8569-01A-11D-2394-08 TCGA-D6-8569-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94b593da-a73a-40cd-bd87-1bac2ef88892 2980a1f4-2730-42c0-80af-7efc1d0b6f23 g.chr18:13072783C>A ENST00000506447.1 + 29 5458 c.5378C>A c.(5377-5379)tCt>tAt p.S1793Y CEP192_ENST00000325971.8_Missense_Mutation_p.S1197Y|CEP192_ENST00000430049.2_Missense_Mutation_p.S1318Y NM_032142.3 NP_115518.3 B7ZMF0 B7ZMF0_HUMAN centrosomal protein 192kDa 1388 NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 AGAAATAATTCTGCATCTACA 0.343000 31 62 2.81731e-10 3.19901e-10 1 1 0 STON1-GTF2A1L 286749 broad.mit.edu 37 2 48897056 48897056 + Missense_Mutation SNP T T C TCGA-D6-8569-01A-11D-2394-08 TCGA-D6-8569-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94b593da-a73a-40cd-bd87-1bac2ef88892 2980a1f4-2730-42c0-80af-7efc1d0b6f23 g.chr2:48897056T>C ENST00000394754.1 + 9 3400 c.3286T>C c.(3286-3288)Tca>Cca p.S1096P STON1-GTF2A1L_ENST00000309827.2_Missense_Mutation_p.S1096P|GTF2A1L_ENST00000430487.2_Missense_Mutation_p.S358P|STON1-GTF2A1L_ENST00000405008.1_Missense_Mutation_p.S1096P|STON1-GTF2A1L_ENST00000394751.3_Missense_Mutation_p.S1049P|STON1-GTF2A1L_ENST00000402114.2_Missense_Mutation_p.S1096P|GTF2A1L_ENST00000403751.3_Missense_Mutation_p.S392P NM_172311.2 NP_758515.1 B7ZL16 B7ZL16_HUMAN 1049 endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter clathrin adaptor complex|transcription factor TFIIA complex NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(22)|liver(2)|lung(49)|ovary(3)|pancreas(1)|prostate(4)|skin(4) 91 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) TGACAGTATTTCAAATGAGGA 0.393000 17 56 0 0 1 0 0 GAK 2580 broad.mit.edu 37 4 906521 906521 + Splice_Site SNP A A G TCGA-D6-8569-01A-11D-2394-08 TCGA-D6-8569-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94b593da-a73a-40cd-bd87-1bac2ef88892 2980a1f4-2730-42c0-80af-7efc1d0b6f23 g.chr4:906521A>G ENST00000314167.4 - 3 378 c.e3+1 GAK_ENST00000511163.1_Intron NM_005255.2 NP_005246.2 O14976 GAK_HUMAN cyclin G associated kinase cell cycle focal adhesion|Golgi apparatus|perinuclear region of cytoplasm ATP binding|heat shock protein binding|protein serine/threonine kinase activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2) 39 Colorectal(103;0.219) GGAAAAGGATACCATGAAGCA 0.507000 16 53 0 0 1 0 0 KDM1A 23028 broad.mit.edu 37 1 23395150 23395150 + Missense_Mutation SNP G G A TCGA-D6-8569-01A-11D-2394-08 TCGA-D6-8569-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94b593da-a73a-40cd-bd87-1bac2ef88892 2980a1f4-2730-42c0-80af-7efc1d0b6f23 g.chr1:23395150G>A ENST00000400181.4 + 11 1402 c.1298G>A c.(1297-1299)gGc>gAc p.G433D KDM1A_ENST00000356634.3_Missense_Mutation_p.G409D|KDM1A_ENST00000542151.1_Missense_Mutation_p.G433D|RP1-184J9.2_ENST00000427154.1_RNA NM_001009999.2 NP_001009999.1 O60341 KDM1A_HUMAN lysine (K)-specific demethylase 1A 409 Demethylase activity. blood coagulation|muscle cell development|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of protein binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nuclear chromatin androgen receptor binding|chromatin binding|enzyme binding|flavin adenine dinucleotide binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-K9 specific)|ligand-dependent nuclear receptor transcription coactivator activity|MyoD binding|oxidoreductase activity|p53 binding|transcription regulatory region DNA binding breast(2)|central_nervous_system(2)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 23 GTGTCCCTTGGCCAGGCATTG 0.368000 10 46 0 0 1 0 0 NPY2R 4887 broad.mit.edu 37 4 156135310 156135310 + Missense_Mutation SNP T T A rs138139550 TCGA-D6-8569-01A-11D-2394-08 TCGA-D6-8569-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94b593da-a73a-40cd-bd87-1bac2ef88892 2980a1f4-2730-42c0-80af-7efc1d0b6f23 g.chr4:156135310T>A ENST00000329476.3 + 2 708 c.219T>A c.(217-219)caT>caA p.H73Q NPY2R_ENST00000506608.1_Missense_Mutation_p.H73Q NM_000910.2 NP_000901.1 P49146 NPY2R_HUMAN neuropeptide Y receptor Y2 73 cardiac left ventricle morphogenesis|inhibition of adenylate cyclase activity by G-protein signaling pathway|locomotory behavior|outflow tract morphogenesis integral to plasma membrane calcium channel regulator activity breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(17)|prostate(1)|skin(5)|urinary_tract(1) 36 all_hematologic(180;0.24) Renal(120;0.0854) TGGTGATCCATGTGGTGATCA 0.438000 5 38 0 0 1 0 0 OR8H1 219469 broad.mit.edu 37 11 56057804 56057804 + Missense_Mutation SNP C C G TCGA-D6-8569-01A-11D-2394-08 TCGA-D6-8569-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94b593da-a73a-40cd-bd87-1bac2ef88892 2980a1f4-2730-42c0-80af-7efc1d0b6f23 g.chr11:56057804C>G ENST00000313022.2 - 1 762 c.735G>C c.(733-735)ttG>ttC p.L245F NM_001005199.1 NP_001005199.1 Q8NGG4 OR8H1_HUMAN olfactory receptor, family 8, subfamily H, member 1 245 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 Esophageal squamous(21;0.00448) TGGTGACTCCCAAGAGATGAG 0.363000 32 72 0 0 1 0 0 DNAJC6 9829 broad.mit.edu 37 1 65867547 65867547 + Silent SNP C C A TCGA-D6-8569-01A-11D-2394-08 TCGA-D6-8569-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94b593da-a73a-40cd-bd87-1bac2ef88892 2980a1f4-2730-42c0-80af-7efc1d0b6f23 g.chr1:65867547C>A ENST00000395325.3 + 15 2197 c.2040C>A c.(2038-2040)gcC>gcA p.A680A DNAJC6_ENST00000371069.4_Silent_p.A737A|DNAJC6_ENST00000263441.7_Silent_p.A667A NM_014787.3 NP_055602.1 O75061 AUXI_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 6 680 Pro-rich. cellular membrane organization|post-Golgi vesicle-mediated transport cytosol heat shock protein binding|protein tyrosine phosphatase activity|SH3 domain binding NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(22)|ovary(1)|prostate(2)|skin(1) 39 ATCCTTTTGCCGACCTTGGGA 0.463000 17 41 6.49762e-13 7.52356e-13 1 1 0 THAP3 90326 broad.mit.edu 37 1 6688666 6688666 + Missense_Mutation SNP C C T TCGA-D6-8569-01A-11D-2394-08 TCGA-D6-8569-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94b593da-a73a-40cd-bd87-1bac2ef88892 2980a1f4-2730-42c0-80af-7efc1d0b6f23 g.chr1:6688666C>T ENST00000377627.3 + 2 209 c.182C>T c.(181-183)cCa>cTa p.P61L THAP3_ENST00000307896.6_Missense_Mutation_p.P61L|THAP3_ENST00000054650.4_Missense_Mutation_p.P61L NM_138350.3 NP_612359.2 Q8WTV1 THAP3_HUMAN THAP domain containing, apoptosis associated protein 3 61 DNA binding|metal ion binding breast(1)|cervix(1)|large_intestine(1)|prostate(1) 4 Ovarian(185;0.0212)|all_lung(157;0.154) all_cancers(23;7.39e-28)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156) Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642) CACTTCCGGCCAGAGTGCTTC 0.607000 7 37 0 0 1 0 0 ATF4P4 100127952 broad.mit.edu 37 11 113661092 113661092 + RNA SNP C C T TCGA-D6-8569-01A-11D-2394-08 TCGA-D6-8569-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94b593da-a73a-40cd-bd87-1bac2ef88892 2980a1f4-2730-42c0-80af-7efc1d0b6f23 g.chr11:113661092C>T ENST00000393544.2 + 0 1140 GACTTGATGTCCCCCTTCGAC 0.527000 12 67 0 0 1 0 0 ARFIP1 27236 broad.mit.edu 37 4 153784811 153784811 + Silent SNP A A G TCGA-D6-8569-01A-11D-2394-08 TCGA-D6-8569-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94b593da-a73a-40cd-bd87-1bac2ef88892 2980a1f4-2730-42c0-80af-7efc1d0b6f23 g.chr4:153784811A>G ENST00000451320.2 + 3 311 c.147A>G c.(145-147)acA>acG p.T49T ARFIP1_ENST00000356064.3_Silent_p.T49T|ARFIP1_ENST00000405727.2_Silent_p.T49T|ARFIP1_ENST00000353617.2_Silent_p.T49T|ARFIP1_ENST00000511289.1_3'UTR|ARFIP1_ENST00000429148.2_Intron P53367 ARFP1_HUMAN ADP-ribosylation factor interacting protein 1 49 intracellular protein transport|regulation of protein secretion cytosol|Golgi membrane ARFIP1/FHDC1(2) cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1) 14 all_hematologic(180;0.093) CCCAAATTACATCTCATGGCT 0.373000 23 47 0 0 1 0 0 MYLK2 85366 broad.mit.edu 37 20 30418934 30418934 + Missense_Mutation SNP A A C TCGA-D6-8569-01A-11D-2394-08 TCGA-D6-8569-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94b593da-a73a-40cd-bd87-1bac2ef88892 2980a1f4-2730-42c0-80af-7efc1d0b6f23 g.chr20:30418934A>C ENST00000375994.2 + 9 1687 c.1414A>C c.(1414-1416)Acc>Ccc p.T472P MYLK2_ENST00000375985.4_Missense_Mutation_p.T472P|MYLK2_ENST00000468730.1_3'UTR Q9H1R3 MYLK2_HUMAN myosin light chain kinase 2 472 Protein kinase. cardiac muscle tissue morphogenesis|regulation of muscle filament sliding ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(2) 33 Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347) GGGGGTGATCACCTACATGCT 0.567000 35 90 0 0 1 0 0 TCN1 6947 broad.mit.edu 37 11 59629133 59629133 + Silent SNP C C A TCGA-D6-8569-01A-11D-2394-08 TCGA-D6-8569-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94b593da-a73a-40cd-bd87-1bac2ef88892 2980a1f4-2730-42c0-80af-7efc1d0b6f23 g.chr11:59629133C>A ENST00000257264.3 - 4 527 c.423G>T c.(421-423)ctG>ctT p.L141L TCN1_ENST00000532419.1_5'UTR NM_001062.3 NP_001053.2 P20061 TCO1_HUMAN transcobalamin I (vitamin B12 binding protein, R binder family) 141 cobalamin metabolic process|cobalamin transport|cobalt ion transport extracellular region cobalamin binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 29 all_epithelial(135;0.198) Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) AGTAGTTAGTCAGGGGAGTGC 0.443000 30 72 1.16021e-09 1.29238e-09 1 1 0 CHD9 80205 broad.mit.edu 37 16 53279691 53279691 + Missense_Mutation SNP C C G TCGA-D6-8569-01A-11D-2394-08 TCGA-D6-8569-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94b593da-a73a-40cd-bd87-1bac2ef88892 2980a1f4-2730-42c0-80af-7efc1d0b6f23 g.chr16:53279691C>G ENST00000566029.1 + 15 3592 c.3383C>G c.(3382-3384)aCt>aGt p.T1128S CHD9_ENST00000398510.3_Missense_Mutation_p.T1128S|CHD9_ENST00000447540.1_Missense_Mutation_p.T1128S|CHD9_ENST00000564845.1_Missense_Mutation_p.T1128S Q3L8U1 CHD9_HUMAN chromodomain helicase DNA binding protein 9 1128 cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleoplasm ATP binding|DNA binding|helicase activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 78 all_cancers(37;0.0212) GCAGGACAAACTAATGTACCT 0.323000 17 22 0 0 1 0 0 SPATA4 132851 broad.mit.edu 37 4 177113916 177113916 + Missense_Mutation SNP C C A TCGA-D6-8569-01A-11D-2394-08 TCGA-D6-8569-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94b593da-a73a-40cd-bd87-1bac2ef88892 2980a1f4-2730-42c0-80af-7efc1d0b6f23 g.chr4:177113916C>A ENST00000515234.1 - 3 1626 c.31G>T c.(31-33)Gtt>Ttt p.V11F SPATA4_ENST00000280191.2_Missense_Mutation_p.V184F Q8NEY3 SPAT4_HUMAN spermatogenesis associated 4 184 apoptosis|spermatogenesis NS(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10) 22 Breast(14;0.0011)|Prostate(90;0.0129)|Melanoma(52;0.0133)|Renal(120;0.0376)|all_hematologic(60;0.124) all cancers(43;2.9e-20)|Epithelial(43;1.99e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.58e-09)|GBM - Glioblastoma multiforme(59;0.000162)|STAD - Stomach adenocarcinoma(60;0.000543)|LUSC - Lung squamous cell carcinoma(193;0.096) GACTTCGAAACTGTAGACCTG 0.363000 15 30 0.000308642 0.00031582 1 1 0 NPAP1 23742 broad.mit.edu 37 15 24921910 24921910 + Missense_Mutation SNP G G T TCGA-D6-8569-01A-11D-2394-08 TCGA-D6-8569-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94b593da-a73a-40cd-bd87-1bac2ef88892 2980a1f4-2730-42c0-80af-7efc1d0b6f23 g.chr15:24921910G>T ENST00000329468.2 + 1 1370 c.896G>T c.(895-897)gGa>gTa p.G299V NM_018958.2 NP_061831.2 nuclear pore associated protein 1 CTGATGTCCGGAAAGAGGATG 0.582000 10 74 1.08611e-07 1.17273e-07 1 1 0 EBF3 253738 broad.mit.edu 37 10 131761720 131761720 + Missense_Mutation SNP A A T TCGA-D6-8569-01A-11D-2394-08 TCGA-D6-8569-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94b593da-a73a-40cd-bd87-1bac2ef88892 2980a1f4-2730-42c0-80af-7efc1d0b6f23 g.chr10:131761720A>T ENST00000368648.3 - 2 274 c.202T>A c.(202-204)Ttc>Atc p.F68I EBF3_ENST00000355311.5_Missense_Mutation_p.F68I NM_001005463.2 NP_001005463.1 Q9H4W6 COE3_HUMAN early B-cell factor 3 68 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|metal ion binding|protein binding central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 44 all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764) OV - Ovarian serous cystadenocarcinoma(35;0.00513) ACGAAGTGGAAGAAATTGGAT 0.592000 13 47 0 0 1 0 0 NSD1 64324 broad.mit.edu 37 5 176631153 176631153 + Missense_Mutation SNP G G T TCGA-D6-8569-01A-11D-2394-08 TCGA-D6-8569-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94b593da-a73a-40cd-bd87-1bac2ef88892 2980a1f4-2730-42c0-80af-7efc1d0b6f23 g.chr5:176631153G>T ENST00000439151.2 + 4 1141 c.1096G>T c.(1096-1098)Gtg>Ttg p.V366L NSD1_ENST00000361032.4_Intron|NSD1_ENST00000354179.4_Missense_Mutation_p.V97L|NSD1_ENST00000347982.4_Missense_Mutation_p.V97L NM_022455.4 NP_071900.2 Q96L73 NSD1_HUMAN nuclear receptor binding SET domain protein 1 366 PWWP 1. 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) GCAGTACTACGTGGAGGCTTT 0.458000 T NUP98 AML Sotos Syndrome Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome HNSCC(47;0.14) 44 114 8.86878e-18 1.05467e-17 1 1 0 HEATR1 55127 broad.mit.edu 37 1 236760165 236760165 + Missense_Mutation SNP T T A TCGA-D6-8569-01A-11D-2394-08 TCGA-D6-8569-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94b593da-a73a-40cd-bd87-1bac2ef88892 2980a1f4-2730-42c0-80af-7efc1d0b6f23 g.chr1:236760165T>A ENST00000366582.3 - 6 829 c.715A>T c.(715-717)Atc>Ttc p.I239F HEATR1_ENST00000366581.2_Missense_Mutation_p.I239F|HEATR1_ENST00000483073.1_5'UTR NM_018072.5 NP_060542.4 Q9H583 HEAT1_HUMAN HEAT repeat containing 1 239 rRNA processing nucleolus|ribonucleoprotein complex protein binding NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3) 87 Ovarian(103;0.0634)|Breast(184;0.133) all_cancers(173;0.0255)|Prostate(94;0.175) OV - Ovarian serous cystadenocarcinoma(106;0.00117) AGTTTGGCGATGATATTGTCT 0.433000 28 65 0 0 1 0 0 EMCN 51705 broad.mit.edu 37 4 101337095 101337095 + Silent SNP G G A TCGA-D6-8569-01A-11D-2394-08 TCGA-D6-8569-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94b593da-a73a-40cd-bd87-1bac2ef88892 2980a1f4-2730-42c0-80af-7efc1d0b6f23 g.chr4:101337095G>A ENST00000296420.4 - 10 889 c.711C>T c.(709-711)agC>agT p.S237S EMCN_ENST00000305864.3_Silent_p.S154S|EMCN_ENST00000511970.1_Silent_p.S224S NM_001159694.1|NM_016242.3 NP_001153166.1|NP_057326.2 Q9ULC0 MUCEN_HUMAN endomucin 237 extracellular region|integral to membrane|plasma membrane p.S237S(1) endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1) 13 OV - Ovarian serous cystadenocarcinoma(123;2.49e-08) GAAGCTTCACGCTCTCTTTAT 0.323000 6 18 0 0 1 0 0 OR2M3 127062 broad.mit.edu 37 1 248367151 248367151 + Missense_Mutation SNP G G T rs145845024 TCGA-D6-8569-01A-11D-2394-08 TCGA-D6-8569-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94b593da-a73a-40cd-bd87-1bac2ef88892 2980a1f4-2730-42c0-80af-7efc1d0b6f23 g.chr1:248367151G>T ENST00000456743.1 + 1 820 c.782G>T c.(781-783)cGg>cTg p.R261L NM_001004689.1 NP_001004689.1 Q8NG83 OR2M3_HUMAN olfactory receptor, family 2, subfamily M, member 3 261 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 50 all_cancers(71;0.000149)|all_epithelial(71;1.27e-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) ATGTACATACGGCCCACATCT 0.502000 26 170 3.01185e-09 3.33387e-09 1 1 0 TRPC1 7220 broad.mit.edu 37 3 142499867 142499867 + Missense_Mutation SNP A A C TCGA-D6-8569-01A-11D-2394-08 TCGA-D6-8569-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94b593da-a73a-40cd-bd87-1bac2ef88892 2980a1f4-2730-42c0-80af-7efc1d0b6f23 g.chr3:142499867A>C ENST00000273482.6 + 5 1245 c.854A>C c.(853-855)aAa>aCa p.K285T TRPC1_ENST00000476941.1_Missense_Mutation_p.K319T NM_003304.4 NP_003295.1 P48995 TRPC1_HUMAN transient receptor potential cation channel, subfamily C, member 1 319 axon guidance|cytosolic calcium ion homeostasis|positive regulation of release of sequestered calcium ion into cytosol|response to calcium ion cytosol|integral to plasma membrane protein binding|store-operated calcium channel activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(2)|stomach(3)|urinary_tract(1) 37 TATAACCAGAAAGAGGTATGA 0.368000 5 64 0 0 1 0 0 OBSCN 84033 broad.mit.edu 37 1 228433259 228433259 + Silent SNP C C T TCGA-D6-8569-01A-11D-2394-08 TCGA-D6-8569-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94b593da-a73a-40cd-bd87-1bac2ef88892 2980a1f4-2730-42c0-80af-7efc1d0b6f23 g.chr1:228433259C>T ENST00000570156.2 + 13 3977 c.3903C>T c.(3901-3903)agC>agT p.S1301S OBSCN_ENST00000422127.1_Silent_p.S1209S|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000284548.11_Silent_p.S1209S|OBSCN_ENST00000366707.4_5'UTR NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 280 Ig-like 13.|Poly-Ser. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) TGAGCTCCAGCTCAAAAGTAC 0.627000 12 75 0 0 1 0 0 TNKS 8658 broad.mit.edu 37 8 9627666 9627666 + Missense_Mutation SNP G G A TCGA-D6-8569-01A-11D-2394-08 TCGA-D6-8569-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94b593da-a73a-40cd-bd87-1bac2ef88892 2980a1f4-2730-42c0-80af-7efc1d0b6f23 g.chr8:9627666G>A ENST00000310430.6 + 26 3817 c.3791G>A c.(3790-3792)aGc>aAc p.S1264N TNKS_ENST00000518281.1_Missense_Mutation_p.S1027N NM_003747.2 NP_003738.2 O95271 TNKS1_HUMAN tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 1264 PARP catalytic. mitotic spindle organization|mRNA transport|negative regulation of DNA binding|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of telomere maintenance via telomerase|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein poly-ADP-ribosylation|protein polyubiquitination|protein transport|spindle assembly|transmembrane transport|Wnt receptor signaling pathway chromosome, centromeric region|Golgi membrane|microsome|nuclear chromosome, telomeric region|nuclear membrane|nuclear pore|pericentriolar material NAD+ ADP-ribosyltransferase activity|protein binding|zinc ion binding NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2) 49 COAD - Colon adenocarcinoma(149;0.0467) CTGCAGTTTAGCACCATGAAA 0.448000 29 38 0 0 1 0 0 FAM172A 83989 broad.mit.edu 37 5 93120106 93120106 + Nonsense_Mutation SNP G G A TCGA-D6-8569-01A-11D-2394-08 TCGA-D6-8569-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94b593da-a73a-40cd-bd87-1bac2ef88892 2980a1f4-2730-42c0-80af-7efc1d0b6f23 g.chr5:93120106G>A ENST00000395965.3 - 9 1148 c.1006C>T c.(1006-1008)Cga>Tga p.R336* FAM172A_ENST00000509739.1_Nonsense_Mutation_p.R189*|FAM172A_ENST00000509163.1_Nonsense_Mutation_p.R290*|FAM172A_ENST00000505869.1_Nonsense_Mutation_p.R226* NM_032042.5 NP_114431.2 Q8WUF8 F172A_HUMAN family with sequence similarity 172, member A 336 endoplasmic reticulum|extracellular region endometrium(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1) 9 ATCCATTCTCGAATCGTTTTG 0.448000 15 89 0 0 1 0 0 GRID2 2895 broad.mit.edu 37 4 94411877 94411877 + Missense_Mutation SNP C C T rs150683134 TCGA-D6-8569-01A-11D-2394-08 TCGA-D6-8569-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94b593da-a73a-40cd-bd87-1bac2ef88892 2980a1f4-2730-42c0-80af-7efc1d0b6f23 g.chr4:94411877C>T ENST00000282020.4 + 12 2204 c.1946C>T c.(1945-1947)aCg>aTg p.T649M GRID2_ENST00000510992.1_Missense_Mutation_p.T554M NM_001510.2 NP_001501.2 O43424 GRID2_HUMAN glutamate receptor, ionotropic, delta 2 649 glutamate signaling pathway cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 Hepatocellular(203;0.114)|all_hematologic(202;0.177) OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191) L-Glutamic Acid(DB00142) TCATCTTACACGGCAAACCTC 0.438000 33 62 0 0 1 0 0 TUBGCP4 27229 broad.mit.edu 37 15 43670086 43670086 + Silent SNP A A G TCGA-D6-8569-01A-11D-2394-08 TCGA-D6-8569-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94b593da-a73a-40cd-bd87-1bac2ef88892 2980a1f4-2730-42c0-80af-7efc1d0b6f23 g.chr15:43670086A>G ENST00000564079.1 + 5 666 c.426A>G c.(424-426)caA>caG p.Q142Q TUBGCP4_ENST00000260383.7_Silent_p.Q142Q|TUBGCP4_ENST00000399460.3_Silent_p.Q6Q NM_014444.2 NP_055259.2 Q9UGJ1 GCP4_HUMAN tubulin, gamma complex associated protein 4 142 G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole structural constituent of cytoskeleton breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(4)|prostate(2)|upper_aerodigestive_tract(2) 21 all_cancers(109;1.27e-10)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.72e-06)|all_lung(180;1.59e-05)|Melanoma(134;0.0728) GBM - Glioblastoma multiforme(94;3.53e-07) TAGTAGAACAAATTAAAAGTC 0.313000 21 71 0 0 1 0 0 HEMGN 55363 broad.mit.edu 37 9 100693459 100693459 + Missense_Mutation SNP C C T TCGA-D6-8569-01A-11D-2394-08 TCGA-D6-8569-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94b593da-a73a-40cd-bd87-1bac2ef88892 2980a1f4-2730-42c0-80af-7efc1d0b6f23 g.chr9:100693459C>T ENST00000259456.3 - 4 361 c.218G>A c.(217-219)cGa>cAa p.R73Q NM_018437.3|NM_197978.2 NP_060907.2|NP_932095.1 Q9BXL5 HEMGN_HUMAN hemogen 73 Necessary for nuclear localization. cell differentiation|multicellular organismal development p.R73Q(1) NS(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|skin(2)|urinary_tract(1) 27 Acute lymphoblastic leukemia(62;0.0559) TCTGCCTCTTCGATTTCCTTT 0.413000 18 61 0 0 1 0 0 ACY1 95 broad.mit.edu 37 3 52018113 52018113 + Silent SNP A A T TCGA-D6-8569-01A-11D-2394-08 TCGA-D6-8569-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94b593da-a73a-40cd-bd87-1bac2ef88892 2980a1f4-2730-42c0-80af-7efc1d0b6f23 g.chr3:52018113A>T ENST00000458031.2 + 4 534 c.303A>T c.(301-303)ccA>ccT p.P101P ABHD14A-ACY1_ENST00000463937.1_Intron|ACY1_ENST00000476854.1_Silent_p.P11P|ACY1_ENST00000476351.1_Silent_p.P11P|ACY1_ENST00000404366.2_Silent_p.P11P|ACY1_ENST00000494103.1_Silent_p.P11P Q03154 ACY1_HUMAN aminoacylase 1 11 cellular amino acid metabolic process|proteolysis cytosol aminoacylase activity|metal ion binding|metallopeptidase activity breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1) 11 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) L-Aspartic Acid(DB00128) AGGAGCACCCATCGGTGACGC 0.612000 27 22 0 0 1 0 0 NOVA2 4858 broad.mit.edu 37 19 46444162 46444162 + Silent SNP G G A TCGA-D6-8569-01A-11D-2394-08 TCGA-D6-8569-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94b593da-a73a-40cd-bd87-1bac2ef88892 2980a1f4-2730-42c0-80af-7efc1d0b6f23 g.chr19:46444162G>A ENST00000263257.5 - 4 632 c.438C>T c.(436-438)atC>atT p.I146I NM_002516.2 NP_002507.1 Q9UNW9 NOVA2_HUMAN neuro-oncological ventral antigen 2 146 KH 2. nucleus RNA binding endometrium(3)|large_intestine(5)|lung(13) 21 all_neural(266;0.113)|Ovarian(192;0.127) OV - Ovarian serous cystadenocarcinoma(262;0.00245)|GBM - Glioblastoma multiforme(486;0.0782)|Epithelial(262;0.179) CTCCCTTGCCGATGATCAGGC 0.542000 5 23 0 0 1 0 0 NBPF10 100132406 broad.mit.edu 37 1 145368468 145368468 + Silent SNP A A G TCGA-D6-8569-01A-11D-2394-08 TCGA-D6-8569-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94b593da-a73a-40cd-bd87-1bac2ef88892 2980a1f4-2730-42c0-80af-7efc1d0b6f23 g.chr1:145368468A>G ENST00000342960.5 + 84 10481 c.10446A>G c.(10444-10446)gaA>gaG p.E3482E NBPF10_ENST00000369338.1_Silent_p.E598E|NBPF10_ENST00000369339.2_Silent_p.E600E NM_001039703.4 NP_001034792.4 A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 3482 NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) TGGAAGTGGAAGAGCGTGAAG 0.463000 56 407 0 0 1 0 0 RNASEH2C 84153 broad.mit.edu 37 11 65487842 65487842 + Silent SNP C C T TCGA-D6-8569-01A-11D-2394-08 TCGA-D6-8569-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94b593da-a73a-40cd-bd87-1bac2ef88892 2980a1f4-2730-42c0-80af-7efc1d0b6f23 g.chr11:65487842C>T ENST00000308418.4 - 2 407 c.219G>A c.(217-219)gtG>gtA p.V73V RNASEH2C_ENST00000528220.1_5'UTR|RNASEH2C_ENST00000527610.1_Silent_p.V73V NM_032193.3 NP_115569.2 Q8TDP1 RNH2C_HUMAN ribonuclease H2, subunit C 73 RNA catabolic process nucleus|ribonuclease H2 complex cervix(1) 1 GCGGCACCGCCACCTCCTCTC 0.662000 24 49 0 0 1 0 0 KLC2 64837 broad.mit.edu 37 11 66026136 66026136 + Missense_Mutation SNP T T G TCGA-D6-8569-01A-11D-2394-08 TCGA-D6-8569-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94b593da-a73a-40cd-bd87-1bac2ef88892 2980a1f4-2730-42c0-80af-7efc1d0b6f23 g.chr11:66026136T>G ENST00000417856.1 + 2 314 c.71T>G c.(70-72)gTc>gGc p.V24G KLC2_ENST00000394078.1_Missense_Mutation_p.V24G|KLC2_ENST00000316924.5_Missense_Mutation_p.V24G|KLC2_ENST00000394066.2_Missense_Mutation_p.V24G|KLC2_ENST00000394067.2_Missense_Mutation_p.V24G|KLC2_ENST00000421552.1_Missense_Mutation_p.V24G NM_001134775.1 NP_001128247.1 Q9H0B6 KLC2_HUMAN kinesin light chain 2 24 blood coagulation cytosol|kinesin complex|microtubule microtubule motor activity|protein binding breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 24 ACCAAGGCTGTCATCCAGGGA 0.657000 OREG0021097 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 21 61 0 0 1 0 0 LRRK2 120892 broad.mit.edu 37 12 40702447 40702447 + Missense_Mutation SNP A A G TCGA-D6-8569-01A-11D-2394-08 TCGA-D6-8569-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94b593da-a73a-40cd-bd87-1bac2ef88892 2980a1f4-2730-42c0-80af-7efc1d0b6f23 g.chr12:40702447A>G ENST00000298910.7 + 29 4196 c.4138A>G c.(4138-4140)Ata>Gta p.I1380V NM_198578.3 NP_940980.3 Q5S007 LRRK2_HUMAN leucine-rich repeat kinase 2 1380 Roc. activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb external side of mitochondrial outer membrane ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2) 181 all_cancers(12;0.00108)|Breast(8;0.218) Lung NSC(34;0.0942)|all_lung(34;0.11) GCCTATCCAAATAAGAGACAA 0.348000 17 53 0 0 1 0 0 SLC26A6 65010 broad.mit.edu 37 3 48667399 48667399 + Missense_Mutation SNP C C G TCGA-D6-8569-01A-11D-2394-08 TCGA-D6-8569-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94b593da-a73a-40cd-bd87-1bac2ef88892 2980a1f4-2730-42c0-80af-7efc1d0b6f23 g.chr3:48667399C>G ENST00000358747.6 - 12 1622 c.1372G>C c.(1372-1374)Gtg>Ctg p.V458L SLC26A6_ENST00000337000.8_Missense_Mutation_p.V372L|SLC26A6_ENST00000455886.2_Missense_Mutation_p.V443L|SLC26A6_ENST00000383733.3_Missense_Mutation_p.V479L|SLC26A6_ENST00000420764.2_Missense_Mutation_p.V479L|SLC26A6_ENST00000395550.2_Missense_Mutation_p.V479L NM_001040454.1 NP_001035544.1 solute carrier family 26 (anion exchanger), member 6 SLC26A6/PRKAR2A(2) NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(1) 19 BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00609) GTGAAGGTCACCAGCCAGATA 0.622000 4 34 0 0 1 0 0 EPHA7 2045 broad.mit.edu 37 6 93955066 93955066 + Silent SNP G G A TCGA-D6-8569-01A-11D-2394-08 TCGA-D6-8569-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94b593da-a73a-40cd-bd87-1bac2ef88892 2980a1f4-2730-42c0-80af-7efc1d0b6f23 g.chr6:93955066G>A ENST00000369303.4 - 16 3016 c.2832C>T c.(2830-2832)ttC>ttT p.F944F NM_004440.3 NP_004431.1 Q15375 EPHA7_HUMAN EPH receptor A7 944 SAM. integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1) 112 all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142) BRCA - Breast invasive adenocarcinoma(108;0.0847) CAGCTGCCGTGAAATTATCTT 0.358000 13 40 0 0 1 0 0 UNC13C 440279 broad.mit.edu 37 15 54630594 54630594 + Missense_Mutation SNP G G T TCGA-D6-8569-01A-11D-2394-08 TCGA-D6-8569-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94b593da-a73a-40cd-bd87-1bac2ef88892 2980a1f4-2730-42c0-80af-7efc1d0b6f23 g.chr15:54630594G>T ENST00000545554.1 + 16 4620 c.4620G>T c.(4618-4620)atG>atT p.M1540I UNC13C_ENST00000537900.1_Missense_Mutation_p.M1538I|UNC13C_ENST00000260323.11_Missense_Mutation_p.M1540I Q8NB66 UN13C_HUMAN unc-13 homolog C (C. elegans) 1540 exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4) 121 GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124) AAGCGAGCATGGTGGTGAAGG 0.428000 16 122 2.35188e-11 2.70543e-11 1 1 0 FAM135B 51059 broad.mit.edu 37 8 139164068 139164068 + Missense_Mutation SNP G G A rs148073315 byFrequency TCGA-D6-8569-01A-11D-2394-08 TCGA-D6-8569-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94b593da-a73a-40cd-bd87-1bac2ef88892 2980a1f4-2730-42c0-80af-7efc1d0b6f23 g.chr8:139164068G>A ENST00000395297.1 - 13 2820 c.2650C>T c.(2650-2652)Cgc>Tgc p.R884C NM_015912.3 NP_056996.2 Q49AJ0 F135B_HUMAN family with sequence similarity 135, member B 884 p.R884C(2) NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 238 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) GCTATGACGCGTGGTATTTTT 0.468000 HNSCC(54;0.14) 17 77 0 0 1 0 0 OR5C1 392391 broad.mit.edu 37 9 125551587 125551587 + Missense_Mutation SNP C C T TCGA-D6-8569-01A-11D-2394-08 TCGA-D6-8569-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94b593da-a73a-40cd-bd87-1bac2ef88892 2980a1f4-2730-42c0-80af-7efc1d0b6f23 g.chr9:125551587C>T ENST00000373680.2 + 1 438 c.376C>T c.(376-378)Cgc>Tgc p.R126C NM_001001923.1 NP_001001923.1 Q8NGR4 OR5C1_HUMAN olfactory receptor, family 5, subfamily C, member 1 126 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(5)|skin(1) 20 GGCCTATGACCGCTACGTGGC 0.572000 23 123 0 0 1 0 0 PSMB1 5689 broad.mit.edu 37 6 170855255 170855255 + Missense_Mutation SNP A A G TCGA-D6-8569-01A-11D-2394-08 TCGA-D6-8569-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94b593da-a73a-40cd-bd87-1bac2ef88892 2980a1f4-2730-42c0-80af-7efc1d0b6f23 g.chr6:170855255A>G ENST00000262193.6 - 3 337 c.239T>C c.(238-240)aTt>aCt p.I80T PSMB1_ENST00000462957.1_5'UTR NM_002793.3 NP_002784.1 P20618 PSB1_HUMAN proteasome (prosome, macropain) subunit, beta type, 1 80 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction cell junction|cytoplasm|nucleus|proteasome core complex protein binding|threonine-type endopeptidase activity endometrium(2)|large_intestine(1)|lung(1)|ovary(1) 5 Breast(66;5.08e-05)|Ovarian(120;0.0563)|Esophageal squamous(34;0.246) OV - Ovarian serous cystadenocarcinoma(33;7.5e-23)|BRCA - Breast invasive adenocarcinoma(81;4.88e-06)|GBM - Glioblastoma multiforme(31;0.00643) Bortezomib(DB00188) GCTGCATCCAATGACTGTTTT 0.333000 5 22 0 0 1 0 0 LRRC37A6P 387646 broad.mit.edu 37 10 27539507 27539507 + RNA SNP C C T rs7896532 by1000genomes TCGA-D6-8569-01A-11D-2394-08 TCGA-D6-8569-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94b593da-a73a-40cd-bd87-1bac2ef88892 2980a1f4-2730-42c0-80af-7efc1d0b6f23 g.chr10:27539507C>T ENST00000574842.1 + 0 776 GTTCACGCTCCGTAGGATGAC 0.572000 6 89 0 0 1 0 0 CACNA1C 775 broad.mit.edu 37 12 2224590 2224590 + Missense_Mutation SNP C C A TCGA-D6-8569-01A-11D-2394-08 TCGA-D6-8569-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94b593da-a73a-40cd-bd87-1bac2ef88892 2980a1f4-2730-42c0-80af-7efc1d0b6f23 g.chr12:2224590C>A ENST00000399655.1 + 2 515 c.250C>A c.(250-252)Cag>Aag p.Q84K CACNA1C_ENST00000399621.1_Missense_Mutation_p.Q84K|CACNA1C_ENST00000399629.1_Missense_Mutation_p.Q84K|CACNA1C_ENST00000399597.1_Missense_Mutation_p.Q84K|CACNA1C_ENST00000327702.7_Missense_Mutation_p.Q84K|CACNA1C_ENST00000399644.1_Missense_Mutation_p.Q84K|CACNA1C_ENST00000399637.1_Missense_Mutation_p.Q84K|CACNA1C_ENST00000406454.3_Missense_Mutation_p.Q84K|CACNA1C_ENST00000480911.1_Missense_Mutation_p.Q84K|CACNA1C_ENST00000347598.4_Missense_Mutation_p.Q84K|CACNA1C_ENST00000335762.5_Missense_Mutation_p.Q84K|CACNA1C_ENST00000399617.1_Missense_Mutation_p.Q84K|CACNA1C_ENST00000399638.1_Missense_Mutation_p.Q84K|CACNA1C_ENST00000399601.1_Missense_Mutation_p.Q84K|CACNA1C_ENST00000399641.1_Missense_Mutation_p.Q84K|CACNA1C_ENST00000402845.3_Missense_Mutation_p.Q84K|CACNA1C_ENST00000399591.1_Missense_Mutation_p.Q84K|CACNA1C_ENST00000399603.1_Missense_Mutation_p.Q84K|CACNA1C_ENST00000399634.1_Missense_Mutation_p.Q84K|CACNA1C_ENST00000344100.3_Missense_Mutation_p.Q84K|CACNA1C_ENST00000399606.1_Missense_Mutation_p.Q84K|CACNA1C_ENST00000399595.1_Missense_Mutation_p.Q84K|CACNA1C_ENST00000399649.1_Missense_Mutation_p.Q84K NM_000719.6|NM_001129829.1|NM_001129834.1 NP_000710.5|NP_001123301.1|NP_001123306.1 Q13936 CAC1C_HUMAN calcium channel, voltage-dependent, L type, alpha 1C subunit 84 Q -> R (in dbSNP:rs1051345). axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion cytoplasm|postsynaptic density|voltage-gated calcium channel complex calmodulin binding|voltage-gated calcium channel activity NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4) 132 OV - Ovarian serous cystadenocarcinoma(31;0.00256) LUAD - Lung adenocarcinoma(1;0.134) Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661) GCGGAAGCGGCAGCAATATGG 0.672000 8 26 0.000157383 0.000162938 1 1 0 INF2 64423 broad.mit.edu 37 14 105175994 105175994 + Missense_Mutation SNP A A T TCGA-D6-8569-01A-11D-2394-08 TCGA-D6-8569-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94b593da-a73a-40cd-bd87-1bac2ef88892 2980a1f4-2730-42c0-80af-7efc1d0b6f23 g.chr14:105175994A>T ENST00000392634.4 + 12 2202 c.2090A>T c.(2089-2091)aAg>aTg p.K697M INF2_ENST00000330634.7_Missense_Mutation_p.K697M NM_022489.3 NP_071934.3 Q27J81 INF2_HUMAN inverted formin, FH2 and WH2 domain containing 697 FH2. actin cytoskeleton organization endoplasmic reticulum|nucleus|perinuclear region of cytoplasm actin binding|Rho GTPase binding large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 8 all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172) all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116) Epithelial(152;0.176) GAGCGAGCCAAGCTGGCCAGC 0.667000 23 56 0 0 1 0 0 CLEC4C 170482 broad.mit.edu 37 12 7899926 7899926 + Missense_Mutation SNP G G A TCGA-D6-8569-01A-11D-2394-08 TCGA-D6-8569-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94b593da-a73a-40cd-bd87-1bac2ef88892 2980a1f4-2730-42c0-80af-7efc1d0b6f23 g.chr12:7899926G>A ENST00000542353.1 - 2 509 c.19C>T c.(19-21)Cct>Tct p.P7S CLEC4C_ENST00000354629.5_Missense_Mutation_p.P7S|CLEC4C_ENST00000360345.3_Missense_Mutation_p.P7S|CLEC4C_ENST00000540085.1_Missense_Mutation_p.P7S NM_130441.2 NP_569708.1 Q8WTT0 CLC4C_HUMAN C-type lectin domain family 4, member C 7 innate immune response integral to membrane sugar binding autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 Kidney(36;0.0915) CGGTCTTGAGGCTCTTCTTCA 0.488000 28 65 0 0 1 0 0 KIAA1045 23349 broad.mit.edu 37 9 34976163 34976163 + Missense_Mutation SNP G G T TCGA-D6-8569-01A-11D-2394-08 TCGA-D6-8569-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94b593da-a73a-40cd-bd87-1bac2ef88892 2980a1f4-2730-42c0-80af-7efc1d0b6f23 g.chr9:34976163G>T ENST00000242315.3 + 4 661 c.579G>T c.(577-579)ttG>ttT p.L193F KIAA1045_ENST00000544237.1_Missense_Mutation_p.L193F|KIAA1045_ENST00000476115.2_3'UTR NM_015297.1 NP_056112.1 Q9UPV7 K1045_HUMAN KIAA1045 193 calcium ion binding breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 LUSC - Lung squamous cell carcinoma(32;0.00575) ACATCAACTTGCTGCTTACTG 0.502000 10 26 0.00829132 0.00838662 1 1 0 ADAMTS17 170691 broad.mit.edu 37 15 100636618 100636618 + Missense_Mutation SNP C C A TCGA-D6-8569-01A-11D-2394-08 TCGA-D6-8569-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94b593da-a73a-40cd-bd87-1bac2ef88892 2980a1f4-2730-42c0-80af-7efc1d0b6f23 g.chr15:100636618C>A ENST00000268070.4 - 15 2185 c.2080G>T c.(2080-2082)Ggg>Tgg p.G694W NM_139057.2 NP_620688.2 Q8TE56 ATS17_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 17 694 Cys-rich. proteolysis intracellular|proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2) 50 Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571) OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161) COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219) TTGCCGTCCCCGCTGCAGACC 0.582000 58 109 4.88482e-21 5.97034e-21 1 1 0 SLC9C2 284525 broad.mit.edu 37 1 173545817 173545817 + Silent SNP G G A TCGA-D6-8569-01A-11D-2394-08 TCGA-D6-8569-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94b593da-a73a-40cd-bd87-1bac2ef88892 2980a1f4-2730-42c0-80af-7efc1d0b6f23 g.chr1:173545817G>A ENST00000367714.3 - 8 1307 c.885C>T c.(883-885)atC>atT p.I295I SLC9C2_ENST00000466087.1_5'UTR|RP3-436N22.3_ENST00000431459.1_RNA|SLC9C2_ENST00000536496.1_Silent_p.I193I NM_178527.3 NP_848622.2 Q5TAH2 S9A11_HUMAN solute carrier family 9, member C2 (putative) 295 sodium ion transport integral to membrane ion channel activity|solute:hydrogen antiporter activity TTACAAGTTCGATCTTCGGTT 0.398000 7 23 0 0 1 0 0 GRIK2 2898 broad.mit.edu 37 6 102247631 102247631 + Missense_Mutation SNP C C T TCGA-D6-8569-01A-11D-2394-08 TCGA-D6-8569-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94b593da-a73a-40cd-bd87-1bac2ef88892 2980a1f4-2730-42c0-80af-7efc1d0b6f23 g.chr6:102247631C>T ENST00000369138.1 + 7 1550 c.1060C>T c.(1060-1062)Cgc>Tgc p.R354C GRIK2_ENST00000369134.4_Missense_Mutation_p.R305C|GRIK2_ENST00000369137.3_Missense_Mutation_p.R354C|GRIK2_ENST00000413795.1_Missense_Mutation_p.R354C|GRIK2_ENST00000421544.1_Missense_Mutation_p.R354C|GRIK2_ENST00000318991.6_Missense_Mutation_p.R354C NM_001166247.1 NP_001159719.1 Q13002 GRIK2_HUMAN glutamate receptor, ionotropic, kainate 2 354 glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity cell junction|postsynaptic membrane extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity p.R354C(2) NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 83 all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14) all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206) L-Glutamic Acid(DB00142) TAAACCCTGGCGCTTCGGGAC 0.443000 26 49 0 0 1 0 0 PLCE1 51196 broad.mit.edu 37 10 95791128 95791128 + Missense_Mutation SNP A A T TCGA-D6-8569-01A-11D-2394-08 TCGA-D6-8569-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94b593da-a73a-40cd-bd87-1bac2ef88892 2980a1f4-2730-42c0-80af-7efc1d0b6f23 g.chr10:95791128A>T ENST00000260766.3 + 2 959 c.325A>T c.(325-327)Ata>Tta p.I109L PLCE1_ENST00000371380.2_Missense_Mutation_p.I109L NM_016341.3 NP_057425.3 Q9P212 PLCE1_HUMAN phospholipase C, epsilon 1 109 activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction cytosol|Golgi membrane|membrane fraction|plasma membrane calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1) 8 Colorectal(252;0.0458) CTGCAACAACATATTGAGAAA 0.383000 13 66 0 0 1 0 0 THBS4 7060 broad.mit.edu 37 5 79372810 79372810 + Silent SNP G G A TCGA-D6-8569-01A-11D-2394-08 TCGA-D6-8569-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94b593da-a73a-40cd-bd87-1bac2ef88892 2980a1f4-2730-42c0-80af-7efc1d0b6f23 g.chr5:79372810G>A ENST00000350881.2 + 16 2215 c.2025G>A c.(2023-2025)ctG>ctA p.L675L THBS4_ENST00000511733.1_Silent_p.L584L|CTD-2201I18.1_ENST00000514042.1_RNA|CTD-2201I18.1_ENST00000503007.1_RNA NM_003248.4 NP_003239.2 P35443 TSP4_HUMAN thrombospondin 4 675 endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation basement membrane|extracellular space calcium ion binding|heparin binding|integrin binding|structural molecule activity breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3) 34 Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261) OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34) TCCCAGACCTGGTGCCCCCTG 0.582000 69 159 0 0 1 0 0 CPSF6 11052 broad.mit.edu 37 12 69653876 69653876 + Silent SNP A A G TCGA-D6-8569-01A-11D-2394-08 TCGA-D6-8569-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94b593da-a73a-40cd-bd87-1bac2ef88892 2980a1f4-2730-42c0-80af-7efc1d0b6f23 g.chr12:69653876A>G ENST00000435070.2 + 8 1478 c.1368A>G c.(1366-1368)aaA>aaG p.K456K CPSF6_ENST00000456847.3_Silent_p.K383K|CPSF6_ENST00000551516.1_Intron|CPSF6_ENST00000266679.8_Silent_p.K493K NM_007007.2 NP_008938.2 Q16630 CPSF6_HUMAN cleavage and polyadenylation specific factor 6, 68kDa 456 mRNA polyadenylation|protein tetramerization mRNA cleavage factor complex|paraspeckles|ribonucleoprotein complex mRNA binding|nucleotide binding|protein binding endometrium(1)|large_intestine(7)|lung(8) 16 all_epithelial(5;2.47e-36)|Lung NSC(4;1.1e-32)|all_lung(4;6.26e-31)|Breast(13;1.59e-06)|Esophageal squamous(21;0.187) Epithelial(6;4.89e-17)|BRCA - Breast invasive adenocarcinoma(5;8.5e-10)|Lung(24;6.04e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|LUSC - Lung squamous cell carcinoma(43;0.171)|Kidney(9;0.241) CTTTAATTAAACAATCCAAAG 0.363000 22 40 0 0 1 0 0 FLNA 2316 broad.mit.edu 37 X 153591107 153591107 + Missense_Mutation SNP C C T TCGA-D6-8569-01A-11D-2394-08 TCGA-D6-8569-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94b593da-a73a-40cd-bd87-1bac2ef88892 2980a1f4-2730-42c0-80af-7efc1d0b6f23 g.chrX:153591107C>T ENST00000422373.1 - 16 2574 c.2326G>A c.(2326-2328)Ggc>Agc p.G776S FLNA_ENST00000344736.4_Missense_Mutation_p.G776S|FLNA_ENST00000360319.4_Missense_Mutation_p.G776S|FLNA_ENST00000369850.3_Missense_Mutation_p.G776S NM_001456.3 NP_001447.2 P21333 FLNA_HUMAN filamin A, alpha 776 actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering cell cortex|cytosol|extracellular region|nucleus|plasma membrane actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding breast(6) 6 all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) ACTCCGGGGCCGTATACTTTG 0.637000 6 6 0 0 1 0 0 PCDH17 27253 broad.mit.edu 37 13 58208589 58208589 + Missense_Mutation SNP G G C TCGA-D6-8569-01A-11D-2394-08 TCGA-D6-8569-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94b593da-a73a-40cd-bd87-1bac2ef88892 2980a1f4-2730-42c0-80af-7efc1d0b6f23 g.chr13:58208589G>C ENST00000377918.3 + 1 1935 c.1909G>C c.(1909-1911)Gag>Cag p.E637Q NM_001040429.2 NP_001035519.1 O14917 PCD17_HUMAN protocadherin 17 637 Cadherin 6. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding|protein binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 120 Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132) GBM - Glioblastoma multiforme(99;1.06e-05) CCACCTGTTTGAGATCGACCC 0.647000 54 116 0 0 1 0 0 TMEM54 113452 broad.mit.edu 37 1 33360449 33360449 + Missense_Mutation SNP C C A TCGA-D6-8569-01A-11D-2394-08 TCGA-D6-8569-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94b593da-a73a-40cd-bd87-1bac2ef88892 2980a1f4-2730-42c0-80af-7efc1d0b6f23 g.chr1:33360449C>A ENST00000373463.3 - 6 745 c.626G>T c.(625-627)cGt>cTt p.R209L TMEM54_ENST00000329151.5_Missense_Mutation_p.R156L|TMEM54_ENST00000475208.1_5'UTR NM_033504.2 NP_277039.1 Q969K7 TMM54_HUMAN transmembrane protein 54 209 integral to membrane endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|urinary_tract(1) 6 Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186) CAGCAGGTCACGGCCCTCCAC 0.632000 11 48 2.27111e-07 2.43729e-07 1 1 0 PCDH9 5101 broad.mit.edu 37 13 67802561 67802561 + Missense_Mutation SNP C C A TCGA-D6-8569-01A-11D-2394-08 TCGA-D6-8569-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94b593da-a73a-40cd-bd87-1bac2ef88892 2980a1f4-2730-42c0-80af-7efc1d0b6f23 g.chr13:67802561C>A ENST00000544246.1 - 2 703 c.12G>T c.(10-12)agG>agT p.R4S PCDH9_ENST00000456367.1_Missense_Mutation_p.R4S|PCDH9_ENST00000377861.3_Missense_Mutation_p.R4S|PCDH9_ENST00000328454.5_Missense_Mutation_p.R4S|PCDH9_ENST00000377865.2_Missense_Mutation_p.R4S NM_203487.2 NP_982354.1 Q9HC56 PCDH9_HUMAN protocadherin 9 4 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3) 103 Hepatocellular(98;0.0906)|Breast(118;0.107) GBM - Glioblastoma multiforme(99;0.00819) GGTAAAAATCCCTCAGGTCCA 0.393000 11 34 6.40141e-05 6.66656e-05 1 1 0 CA3 761 broad.mit.edu 37 8 86358382 86358382 + Silent SNP G G A TCGA-D6-8569-01A-11D-2394-08 TCGA-D6-8569-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94b593da-a73a-40cd-bd87-1bac2ef88892 2980a1f4-2730-42c0-80af-7efc1d0b6f23 g.chr8:86358382G>A ENST00000285381.2 + 6 602 c.519G>A c.(517-519)gcG>gcA p.A173A RP11-317J10.2_ENST00000517697.1_RNA|RP11-317J10.2_ENST00000521761.1_RNA NM_005181.3 NP_005172.1 P07451 CAH3_HUMAN carbonic anhydrase III, muscle specific 173 one-carbon metabolic process cytoplasm carbonate dehydratase activity|zinc ion binding p.A173A(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 23 GCAAGGAGGCGCCCTTCACAA 0.577000 9 21 0 0 1 0 0 OR51A4 401666 broad.mit.edu 37 11 4967550 4967550 + Missense_Mutation SNP C C T TCGA-D6-8569-01A-11D-2394-08 TCGA-D6-8569-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94b593da-a73a-40cd-bd87-1bac2ef88892 2980a1f4-2730-42c0-80af-7efc1d0b6f23 g.chr11:4967550C>T ENST00000380373.2 - 1 806 c.781G>A c.(781-783)Gtt>Att p.V261I MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron NM_001005329.1 NP_001005329.1 Q8NGJ6 O51A4_HUMAN olfactory receptor, family 51, subfamily A, member 4 261 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(3)|lung(15)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1) 29 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19) CGGTGGACAACGGCCAGGTTG 0.473000 30 89 0 0 1 0 0 TMEM117 84216 broad.mit.edu 37 12 44782157 44782157 + Missense_Mutation SNP G G A TCGA-D6-8569-01A-11D-2394-08 TCGA-D6-8569-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94b593da-a73a-40cd-bd87-1bac2ef88892 2980a1f4-2730-42c0-80af-7efc1d0b6f23 g.chr12:44782157G>A ENST00000266534.3 + 8 1374 c.1247G>A c.(1246-1248)cGa>cAa p.R416Q TMEM117_ENST00000546978.1_3'UTR|TMEM117_ENST00000536799.1_Missense_Mutation_p.R312Q|TMEM117_ENST00000551577.1_3'UTR NM_032256.1 NP_115632.1 Q9H0C3 TM117_HUMAN transmembrane protein 117 416 endoplasmic reticulum|integral to membrane breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|urinary_tract(1) 23 Lung SC(27;0.192) GBM - Glioblastoma multiforme(48;0.124) TTCTTTGGACGATTTTTGAAA 0.413000 20 71 0 0 1 0 0 CHEK2P2 646096 broad.mit.edu 37 15 20495435 20495435 + RNA SNP G G T TCGA-D6-8569-01A-11D-2394-08 TCGA-D6-8569-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94b593da-a73a-40cd-bd87-1bac2ef88892 2980a1f4-2730-42c0-80af-7efc1d0b6f23 g.chr15:20495435G>T ENST00000555186.1 + 0 638 NR_038836.1 TCTACTCCAGGTTCTAGCCCA 0.388000 6 44 5.9392e-07 6.33515e-07 1 1 0 GTF2E1 2960 broad.mit.edu 37 3 120469647 120469647 + Missense_Mutation SNP A A G TCGA-D6-8569-01A-11D-2394-08 TCGA-D6-8569-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94b593da-a73a-40cd-bd87-1bac2ef88892 2980a1f4-2730-42c0-80af-7efc1d0b6f23 g.chr3:120469647A>G ENST00000283875.5 + 2 341 c.248A>G c.(247-249)gAc>gGc p.D83G NM_005513.2 NP_005504.2 P29083 T2EA_HUMAN general transcription factor IIE, polypeptide 1, alpha 56kDa 83 HTH TFE/IIEalpha-type. interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction nucleoplasm protein binding|zinc ion binding NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1) 22 GBM - Glioblastoma multiforme(114;0.159) ACTGCTGCAGACGGGAAAACC 0.393000 45 55 0 0 1 0 0 HBA2 3040 broad.mit.edu 37 16 223474 223474 + Silent SNP C C T TCGA-D6-8569-01A-11D-2394-08 TCGA-D6-8569-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94b593da-a73a-40cd-bd87-1bac2ef88892 2980a1f4-2730-42c0-80af-7efc1d0b6f23 g.chr16:223474C>T ENST00000251595.6 + 3 370 c.304C>T c.(304-306)Cta>Tta p.L102L HBA2_ENST00000397806.1_Silent_p.L70L NM_000517.4 NP_000508.1 P69905 HBA_HUMAN hemoglobin, alpha 2 102 hydrogen peroxide catabolic process|positive regulation of cell death|protein heterooligomerization cytosolic small ribosomal subunit|haptoglobin-hemoglobin complex|hemoglobin complex heme binding|oxygen binding|oxygen transporter activity|protein binding all_cancers(16;2.03e-06)|all_epithelial(16;5.16e-06)|Hepatocellular(16;0.000325)|Lung NSC(18;0.0138)|all_lung(18;0.0306) Amodiaquine(DB00613)|Chloroquine(DB00608)|Iron Dextran(DB00893)|Mefloquine(DB00358)|Primaquine(DB01087)|Quinine(DB00468) TGCACAGCTCCTAAGCCACTG 0.687000 OREG0003686 type=REGULATORY REGION|Gene=SERPINB9|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 11 28 0 0 1 0 0 ABCA2 20 broad.mit.edu 37 9 139904658 139904658 + Missense_Mutation SNP C C T rs150403388 by1000genomes TCGA-D6-8569-01A-11D-2394-08 TCGA-D6-8569-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94b593da-a73a-40cd-bd87-1bac2ef88892 2980a1f4-2730-42c0-80af-7efc1d0b6f23 g.chr9:139904658C>T ENST00000265662.5 - 41 6487 c.6340G>A c.(6340-6342)Gtc>Atc p.V2114I ABCA2_ENST00000371605.3_Missense_Mutation_p.V2113I|ABCA2_ENST00000341511.6_Missense_Mutation_p.V2114I Q9BZC7 ABCA2_HUMAN ATP-binding cassette, sub-family A (ABC1), member 2 2113 ABC transporter 2. cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center ATP binding|ATPase activity, coupled to transmembrane movement of substances central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1) 41 all_cancers(76;0.16) Myeloproliferative disorder(178;0.0511) STAD - Stomach adenocarcinoma(284;0.123) OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048) TGTCCATTGACGAAGGCCTCG 0.701000 3 15 0 0 1 0 0 INTS5 80789 broad.mit.edu 37 11 62416262 62416262 + Silent SNP G G A TCGA-D6-8569-01A-11D-2394-08 TCGA-D6-8569-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94b593da-a73a-40cd-bd87-1bac2ef88892 2980a1f4-2730-42c0-80af-7efc1d0b6f23 g.chr11:62416262G>A ENST00000330574.2 - 2 1342 c.1290C>T c.(1288-1290)acC>acT p.T430T NM_030628.1 NP_085131.1 Q6P9B9 INT5_HUMAN integrator complex subunit 5 430 snRNA processing integral to membrane|integrator complex protein binding breast(1)|endometrium(4)|large_intestine(6)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2) 36 CCTCACGCACGGTGTCTGGCA 0.627000 17 51 0 0 1 0 0 HOOK3 84376 broad.mit.edu 37 8 42868541 42868541 + Missense_Mutation SNP A A G TCGA-D6-8569-01A-11D-2394-08 TCGA-D6-8569-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94b593da-a73a-40cd-bd87-1bac2ef88892 2980a1f4-2730-42c0-80af-7efc1d0b6f23 g.chr8:42868541A>G ENST00000307602.4 + 21 2214 c.2014A>G c.(2014-2016)Atg>Gtg p.M672V NM_032410.3 NP_115786.1 Q86VS8 HOOK3_HUMAN hook microtubule-tethering protein 3 672 Required for association with Golgi.|Required for interaction with MSR1. cytoplasmic microtubule organization|early endosome to late endosome transport|endosome organization|endosome to lysosome transport|Golgi localization|interkinetic nuclear migration|lysosome organization|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome|protein transport cis-Golgi network|FHF complex|microtubule|pericentriolar material identical protein binding|microtubule binding NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 31 Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184) all_lung(54;0.000105)|Lung NSC(58;0.000419)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129) Lung(22;0.048)|LUSC - Lung squamous cell carcinoma(45;0.114) CTGGTACAATATGGTAAGAAA 0.289000 T RET papillary thyroid 36 59 0 0 1 0 0 SS18L1 26039 broad.mit.edu 37 20 60738656 60738656 + Silent SNP G G A TCGA-D6-8569-01A-11D-2394-08 TCGA-D6-8569-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94b593da-a73a-40cd-bd87-1bac2ef88892 2980a1f4-2730-42c0-80af-7efc1d0b6f23 g.chr20:60738656G>A ENST00000331758.3 + 6 725 c.699G>A c.(697-699)gcG>gcA p.A233A SS18L1_ENST00000370848.4_Silent_p.A236A|SS18L1_ENST00000421564.1_Silent_p.A233A NM_198935.1 NP_945173.1 O75177 CREST_HUMAN synovial sarcoma translocation gene on chromosome 18-like 1 233 Gln-rich. chromatin modification|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent condensed chromosome kinetochore SS18L1/SSX1(2) ovary(2)|skin(1) 3 Breast(26;3.97e-09) BRCA - Breast invasive adenocarcinoma(19;1.92e-08) GGCCCATGGCGCCCTACCGGC 0.716000 T SSX1 synovial sarcoma 11 12 0 0 1 0 0 CNKSR2 22866 broad.mit.edu 37 X 21627482 21627482 + Missense_Mutation SNP G G T TCGA-D6-8569-01A-11D-2394-08 TCGA-D6-8569-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94b593da-a73a-40cd-bd87-1bac2ef88892 2980a1f4-2730-42c0-80af-7efc1d0b6f23 g.chrX:21627482G>T ENST00000425654.2 + 19 2829 c.2349G>T c.(2347-2349)caG>caT p.Q783H CNKSR2_ENST00000543067.1_Missense_Mutation_p.Q764H|CNKSR2_ENST00000379510.3_Missense_Mutation_p.Q813H|CNKSR2_ENST00000279451.4_Missense_Mutation_p.Q813H NM_001168647.1 NP_001162118.1 Q8WXI2 CNKR2_HUMAN connector enhancer of kinase suppressor of Ras 2 813 regulation of signal transduction cytoplasm|membrane protein binding breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3) 61 TGCCAACTCAGAAATGCCACC 0.542000 33 24 9.04072e-19 1.08984e-18 1 1 0 CHEK2 11200 broad.mit.edu 37 22 29091842 29091842 + Missense_Mutation SNP G G A rs147877722 TCGA-D6-8569-01A-11D-2394-08 TCGA-D6-8569-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94b593da-a73a-40cd-bd87-1bac2ef88892 2980a1f4-2730-42c0-80af-7efc1d0b6f23 g.chr22:29091842G>A ENST00000544772.1 - 12 1888 c.452C>T c.(451-453)tCc>tTc p.S151F CHEK2_ENST00000348295.3_Missense_Mutation_p.S343F|CHEK2_ENST00000402731.1_Missense_Mutation_p.S343F|CHEK2_ENST00000328354.6_Missense_Mutation_p.S372F|CHEK2_ENST00000382580.2_Missense_Mutation_p.S415F|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000404276.1_Missense_Mutation_p.S372F|CHEK2_ENST00000382578.1_Missense_Mutation_p.S281F|CHEK2_ENST00000403642.1_Missense_Mutation_p.S281F|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000405598.1_Missense_Mutation_p.S372F NM_001257387.1 NP_001244316.1 O96017 CHK2_HUMAN checkpoint kinase 2 372 FHA. cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence PML body ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2) 50 CAAAATCTTGGAGTGCCCAAA 0.413000 F breast Direct reversal of damage;Other conserved DNA damage response genes 12 32 0 0 1 0 0 CLEC1B 51266 broad.mit.edu 37 12 10149793 10149793 + Silent SNP A A G TCGA-D6-8569-01A-11D-2394-08 TCGA-D6-8569-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94b593da-a73a-40cd-bd87-1bac2ef88892 2980a1f4-2730-42c0-80af-7efc1d0b6f23 g.chr12:10149793A>G ENST00000428126.2 - 4 419 c.150T>C c.(148-150)taT>taC p.Y50Y CLEC1B_ENST00000298527.6_Silent_p.Y83Y|CLEC1B_ENST00000348658.4_Silent_p.Y50Y Q9P126 CLC1B_HUMAN C-type lectin domain family 1, member B 83 cell surface receptor linked signaling pathway|defense response integral to plasma membrane protein binding|sugar binding|transmembrane receptor activity NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(12)|stomach(1)|urinary_tract(1) 19 GTTTTACCACATATTGACAGA 0.403000 10 53 0 0 1 0 0 PARP14 54625 broad.mit.edu 37 3 122420437 122420437 + Silent SNP A A T TCGA-D6-8569-01A-11D-2394-08 TCGA-D6-8569-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94b593da-a73a-40cd-bd87-1bac2ef88892 2980a1f4-2730-42c0-80af-7efc1d0b6f23 g.chr3:122420437A>T ENST00000474629.2 + 6 3302 c.3036A>T c.(3034-3036)ggA>ggT p.G1012G NM_017554.2 NP_060024.2 Q460N5 PAR14_HUMAN poly (ADP-ribose) polymerase family, member 14 1012 Macro 2. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane NAD+ ADP-ribosyltransferase activity NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1) 50 GBM - Glioblastoma multiforme(114;0.0531) TGTCCCCGGGAGGCCTGCAGA 0.557000 6 19 0 0 1 0 0 BRSK2 9024 broad.mit.edu 37 11 1464609 1464609 + Silent SNP C C T TCGA-D6-8569-01A-11D-2394-08 TCGA-D6-8569-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94b593da-a73a-40cd-bd87-1bac2ef88892 2980a1f4-2730-42c0-80af-7efc1d0b6f23 g.chr11:1464609C>T ENST00000308219.9 + 7 995 c.609C>T c.(607-609)ggC>ggT p.G203G BRSK2_ENST00000382179.1_Silent_p.G249G|BRSK2_ENST00000526678.1_Silent_p.G203G|BRSK2_ENST00000531197.1_Silent_p.G203G|BRSK2_ENST00000528841.1_Silent_p.G203G|BRSK2_ENST00000544817.1_5'UTR|BRSK2_ENST00000528710.1_Silent_p.G143G|BRSK2_ENST00000308230.5_Silent_p.G203G NM_001256627.1|NM_003957.3 NP_001243556.1|NP_003948.2 Q8IWQ3 BRSK2_HUMAN BR serine/threonine kinase 2 203 Protein kinase. establishment of cell polarity|neuron differentiation ATP binding|magnesium ion binding|protein serine/threonine kinase activity endometrium(4)|large_intestine(1)|lung(5) 10 all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00144)|Lung(200;0.0713)|LUSC - Lung squamous cell carcinoma(625;0.0842) GGAGCTGCGGCGTCATCCTGT 0.716000 7 12 0 0 1 0 0 LATS2 26524 broad.mit.edu 37 13 21557591 21557591 + Missense_Mutation SNP C C A TCGA-D6-8569-01A-11D-2394-08 TCGA-D6-8569-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94b593da-a73a-40cd-bd87-1bac2ef88892 2980a1f4-2730-42c0-80af-7efc1d0b6f23 g.chr13:21557591C>A ENST00000382592.4 - 5 2659 c.2254G>T c.(2254-2256)Gac>Tac p.D752Y LATS2_ENST00000542899.1_Missense_Mutation_p.D752Y NM_014572.2 NP_055387.2 Q9NRM7 LATS2_HUMAN large tumor suppressor kinase 2 752 Protein kinase. cell division|G1/S transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|intracellular protein kinase cascade|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity microtubule organizing center|nucleus|spindle pole ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2) 45 all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244) all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104) CTCATCATGTCCCCACCAGGG 0.537000 40 113 1.49673e-21 1.85511e-21 1 1 0 PCDH15 65217 broad.mit.edu 37 10 56089401 56089401 + Silent SNP G G A TCGA-D6-8569-01A-11D-2394-08 TCGA-D6-8569-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94b593da-a73a-40cd-bd87-1bac2ef88892 2980a1f4-2730-42c0-80af-7efc1d0b6f23 g.chr10:56089401G>A ENST00000373965.2 - 7 1054 c.660C>T c.(658-660)ctC>ctT p.L220L PCDH15_ENST00000395445.1_Silent_p.L220L|PCDH15_ENST00000395430.1_Silent_p.L220L|PCDH15_ENST00000320301.6_Silent_p.L220L|PCDH15_ENST00000395432.2_Intron|PCDH15_ENST00000414778.1_Silent_p.L225L|PCDH15_ENST00000395438.1_Silent_p.L220L|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000373957.3_Silent_p.L198L|PCDH15_ENST00000437009.1_Silent_p.L220L|PCDH15_ENST00000395440.1_Silent_p.L220L|PCDH15_ENST00000395433.1_Silent_p.L198L|PCDH15_ENST00000395442.1_Silent_p.L220L|PCDH15_ENST00000361849.3_Silent_p.L220L|PCDH15_ENST00000373955.1_Silent_p.L220L|PCDH15_ENST00000395446.1_Silent_p.L220L NM_001142771.1|NM_001142772.1 NP_001136243.1|NP_001136244.1 Q96QU1 PCD15_HUMAN protocadherin-related 15 220 Cadherin 2. equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1) 237 Melanoma(3;0.117)|Lung SC(717;0.238) CTTCATAGTTGAGCCTCTTCC 0.313000 HNSCC(58;0.16) 22 120 0 0 1 0 0 ZNF804A 91752 broad.mit.edu 37 2 185803247 185803247 + Missense_Mutation SNP G G T TCGA-D6-8569-01A-11D-2394-08 TCGA-D6-8569-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94b593da-a73a-40cd-bd87-1bac2ef88892 2980a1f4-2730-42c0-80af-7efc1d0b6f23 g.chr2:185803247G>T ENST00000302277.6 + 4 3718 c.3124G>T c.(3124-3126)Gac>Tac p.D1042Y NM_194250.1 NP_919226.1 Q7Z570 Z804A_HUMAN zinc finger protein 804A 1042 intracellular zinc ion binding NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1) 146 AGAAAACCATGACAAATTCAA 0.443000 31 74 3.57733e-08 3.88648e-08 1 1 0 AGK 55750 broad.mit.edu 37 7 141333736 141333736 + Silent SNP C C T TCGA-D6-8569-01A-11D-2394-08 TCGA-D6-8569-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94b593da-a73a-40cd-bd87-1bac2ef88892 2980a1f4-2730-42c0-80af-7efc1d0b6f23 g.chr7:141333736C>T ENST00000355413.4 + 10 884 c.624C>T c.(622-624)ggC>ggT p.G208G AGK_ENST00000535825.1_Silent_p.G205G|AGK_ENST00000473247.1_Silent_p.G180G NM_018238.3 NP_060708.1 Q53H12 AGK_HUMAN acylglycerol kinase 208 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway mitochondrial membrane acylglycerol kinase activity|ATP binding|diacylglycerol kinase activity|NAD+ kinase activity breast(1)|endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(3) 17 Melanoma(164;0.0171) CAATGACCGGCCTTCGATGGG 0.358000 45 115 0 0 1 0 0 ATP1A4 480 broad.mit.edu 37 1 160133951 160133951 + Missense_Mutation SNP G G A TCGA-D6-8569-01A-11D-2394-08 TCGA-D6-8569-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94b593da-a73a-40cd-bd87-1bac2ef88892 2980a1f4-2730-42c0-80af-7efc1d0b6f23 g.chr1:160133951G>A ENST00000368081.4 + 7 1255 c.784G>A c.(784-786)Gcc>Acc p.A262T NM_144699.3 NP_653300.2 Q13733 AT1A4_HUMAN ATPase, Na+/K+ transporting, alpha 4 polypeptide 262 ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility sodium:potassium-exchanging ATPase complex ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 75 all_cancers(52;2.56e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) CACAGGAACCGCCCGGGGTAT 0.527000 10 87 0 0 1 0 0 CEP41 95681 broad.mit.edu 37 7 130038748 130038748 + Missense_Mutation SNP C C T TCGA-D6-8569-01A-11D-2394-08 TCGA-D6-8569-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94b593da-a73a-40cd-bd87-1bac2ef88892 2980a1f4-2730-42c0-80af-7efc1d0b6f23 g.chr7:130038748C>T ENST00000223208.4 - 11 1376 c.1106G>A c.(1105-1107)gGc>gAc p.G369D CEP41_ENST00000343969.5_Missense_Mutation_p.G297D|CEP41_ENST00000541543.1_Missense_Mutation_p.G281D NM_001257158.1|NM_018718.2 NP_001244087.1|NP_061188.1 Q9BYV8 CEP41_HUMAN centrosomal protein 41kDa 369 G2/M transition of mitotic cell cycle centrosome|cytosol CCAGGGTTTGCCTTGCAGGTG 0.542000 44 223 0 0 1 0 0 CHST15 51363 broad.mit.edu 37 10 125805547 125805547 + Missense_Mutation SNP C C G TCGA-D6-8569-01A-11D-2394-08 TCGA-D6-8569-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94b593da-a73a-40cd-bd87-1bac2ef88892 2980a1f4-2730-42c0-80af-7efc1d0b6f23 g.chr10:125805547C>G ENST00000346248.5 - 2 824 c.182G>C c.(181-183)aGg>aCg p.R61T CHST15_ENST00000462406.1_5'UTR|CHST15_ENST00000435907.1_Missense_Mutation_p.R61T|CHST15_ENST00000421115.1_Missense_Mutation_p.R61T NM_001270764.1|NM_015892.3 NP_001257693.1|NP_056976.2 Q7LFX5 CHSTF_HUMAN carbohydrate (N-acetylgalactosamine 4-sulfate 6-O) sulfotransferase 15 61 hexose biosynthetic process Golgi membrane|integral to membrane 3'-phosphoadenosine 5'-phosphosulfate binding|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity endometrium(4)|kidney(1)|large_intestine(11)|lung(6)|ovary(3)|stomach(1) 26 CCCTTCAGTCCTCACTTCGAG 0.478000 24 53 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7577109 7577109 + Missense_Mutation SNP A A C TCGA-D6-8569-01A-11D-2394-08 TCGA-D6-8569-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94b593da-a73a-40cd-bd87-1bac2ef88892 2980a1f4-2730-42c0-80af-7efc1d0b6f23 g.chr17:7577109A>C ENST00000420246.2 - 8 961 c.829T>G c.(829-831)Tgt>Ggt p.C277G TP53_ENST00000455263.2_Missense_Mutation_p.C277G|TP53_ENST00000359597.4_Missense_Mutation_p.C277G|TP53_ENST00000413465.2_Intron|TP53_ENST00000269305.4_Missense_Mutation_p.C277G|TP53_ENST00000445888.2_Missense_Mutation_p.C277G NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 277 Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity). C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in an osteosarcoma with no family history; germline mutation and 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.0?(8)|p.C277G(5)|p.?(2)|p.A276fs*69(2)|p.C277fs*29(2)|p.A276_R283delACPGRDRR(1)|p.C275fs*20(1)|p.A276fs*64(1)|p.A276fs*68(1)|p.L265_K305del41(1)|p.A276_C277delAC(1)|p.F270_D281del12(1)|p.V274_P278del(1)|p.S269fs*21(1)|p.C275fs*67(1)|p.C277R(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(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) CTCCCAGGACAGGCACAAACA 0.552000 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) 15 15 0 0 1 0 0 ABCC8 6833 broad.mit.edu 37 11 17414551 17414551 + Missense_Mutation SNP C C T rs143557848 TCGA-D6-8569-01A-11D-2394-08 TCGA-D6-8569-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94b593da-a73a-40cd-bd87-1bac2ef88892 2980a1f4-2730-42c0-80af-7efc1d0b6f23 g.chr11:17414551C>T ENST00000302539.4 - 39 4861 c.4736G>A c.(4735-4737)cGt>cAt p.R1579H ABCC8_ENST00000389817.3_Missense_Mutation_p.R1578H NM_000352.3 NP_000343.2 Q09428 ABCC8_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 8 1578 carbohydrate metabolic process|energy reserve metabolic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 67 READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1) Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912) CTTGTCTGCACGGACGAAGGA 0.552000 9 88 0 0 1 0 0 RNF180 285671 broad.mit.edu 37 5 63509890 63509890 + Missense_Mutation SNP A A T TCGA-D6-8569-01A-11D-2394-08 TCGA-D6-8569-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94b593da-a73a-40cd-bd87-1bac2ef88892 2980a1f4-2730-42c0-80af-7efc1d0b6f23 g.chr5:63509890A>T ENST00000389100.4 + 4 809 c.737A>T c.(736-738)tAt>tTt p.Y246F RNF180_ENST00000381081.2_Intron|RNF180_ENST00000296615.6_Missense_Mutation_p.Y246F NM_001113561.1 NP_001107033.1 Q86T96 RN180_HUMAN ring finger protein 180 246 integral to membrane|nuclear envelope zinc ion binding breast(1)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 20 Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0848)|Colorectal(97;0.234) Lung(70;0.114) CCCACTTTATATGAAATACAT 0.373000 26 76 0 0 1 0 0 FBXL3 26224 broad.mit.edu 37 13 77581837 77581837 + Silent SNP A A G TCGA-D6-8569-01A-11D-2394-08 TCGA-D6-8569-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94b593da-a73a-40cd-bd87-1bac2ef88892 2980a1f4-2730-42c0-80af-7efc1d0b6f23 g.chr13:77581837A>G ENST00000355619.5 - 5 1054 c.730T>C c.(730-732)Ttg>Ctg p.L244L FBXL3_ENST00000477982.1_Intron NM_012158.2 NP_036290.1 Q9UKT7 FBXL3_HUMAN F-box and leucine-rich repeat protein 3 244 regulation of circadian rhythm|rhythmic process|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process cytoplasm|nucleus|SCF ubiquitin ligase complex protein binding|ubiquitin-protein ligase activity breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|urinary_tract(1) 16 Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.218) GBM - Glioblastoma multiforme(99;0.0521) TCAGAAGACAATGCAAGTAAC 0.403000 26 52 0 0 1 0 0 ROPN1 54763 broad.mit.edu 37 3 123689003 123689003 + Missense_Mutation SNP G G A rs140868038 TCGA-D6-8569-01A-11D-2394-08 TCGA-D6-8569-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94b593da-a73a-40cd-bd87-1bac2ef88892 2980a1f4-2730-42c0-80af-7efc1d0b6f23 g.chr3:123689003G>A ENST00000184183.4 - 6 798 c.458C>T c.(457-459)tCg>tTg p.S153L ROPN1_ENST00000405845.3_Missense_Mutation_p.S153L NM_017578.2 NP_060048.2 Q9HAT0 ROP1A_HUMAN rhophilin associated tail protein 1 153 signal transduction cAMP-dependent protein kinase regulator activity p.S153L(1) lung(2)|ovary(1)|skin(1) 4 GBM - Glioblastoma multiforme(114;0.148) GATCCGGGGCGACCCACCATT 0.433000 8 90 0 0 1 0 0 ANKZF1 55139 broad.mit.edu 37 2 220099691 220099691 + Missense_Mutation SNP C C A TCGA-D6-8569-01A-11D-2394-08 TCGA-D6-8569-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94b593da-a73a-40cd-bd87-1bac2ef88892 2980a1f4-2730-42c0-80af-7efc1d0b6f23 g.chr2:220099691C>A ENST00000323348.5 + 10 1522 c.1348C>A c.(1348-1350)Cag>Aag p.Q450K ANKZF1_ENST00000410034.3_Missense_Mutation_p.Q450K|ANKZF1_ENST00000409849.1_Missense_Mutation_p.Q240K NM_018089.2 NP_060559.2 Q9H8Y5 ANKZ1_HUMAN ankyrin repeat and zinc finger domain containing 1 450 intracellular zinc ion binding breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 23 Renal(207;0.0474) Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) AAGCCGAGACCAGGAGGCTGG 0.542000 9 36 2.17888e-05 2.28263e-05 1 1 0 LRRK2 120892 broad.mit.edu 37 12 40702283 40702283 + Missense_Mutation SNP G G A rs72546338 byFrequency TCGA-D6-8569-01A-11D-2394-08 TCGA-D6-8569-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94b593da-a73a-40cd-bd87-1bac2ef88892 2980a1f4-2730-42c0-80af-7efc1d0b6f23 g.chr12:40702283G>A ENST00000298910.7 + 29 4032 c.3974G>A c.(3973-3975)cGa>cAa p.R1325Q NM_198578.3 NP_940980.3 Q5S007 LRRK2_HUMAN leucine-rich repeat kinase 2 1325 activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb external side of mitochondrial outer membrane ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2) 181 all_cancers(12;0.00108)|Breast(8;0.218) Lung NSC(34;0.0942)|all_lung(34;0.11) CTTCAACAGCGATTAAAAAAG 0.318000 5 30 0 0 1 0 0 CHMP2B 25978 broad.mit.edu 37 3 87289861 87289861 + Missense_Mutation SNP A A T TCGA-D6-8569-01A-11D-2394-08 TCGA-D6-8569-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94b593da-a73a-40cd-bd87-1bac2ef88892 2980a1f4-2730-42c0-80af-7efc1d0b6f23 g.chr3:87289861A>T ENST00000263780.4 + 2 285 c.47A>T c.(46-48)gAa>gTa p.E16V CHMP2B_ENST00000471660.1_Intron|CHMP2B_ENST00000494980.1_Missense_Mutation_p.E16V|CHMP2B_ENST00000472024.1_3'UTR NM_014043.3 NP_054762.2 Q9UQN3 CHM2B_HUMAN charged multivesicular body protein 2B 16 cellular membrane organization|endosome transport|protein transport cytosol|late endosome membrane|mitochondrion|nucleus protein domain specific binding NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(1)|ovary(1)|skin(2) 12 all_cancers(8;0.104)|Lung SC(3;0.184) Lung NSC(201;0.0777) LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712) GTAATAAAGGAACAGAATCGA 0.328000 30 36 0 0 1 0 0 OR6C68 403284 broad.mit.edu 37 12 55886852 55886852 + Nonsense_Mutation SNP C C T TCGA-D6-8569-01A-11D-2394-08 TCGA-D6-8569-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94b593da-a73a-40cd-bd87-1bac2ef88892 2980a1f4-2730-42c0-80af-7efc1d0b6f23 g.chr12:55886852C>T ENST00000379662.1 + 1 706 c.706C>T c.(706-708)Caa>Taa p.Q236* OR6C68_ENST00000548615.1_Nonsense_Mutation_p.Q231*|RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000554049.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA A6NDL8 O6C68_HUMAN olfactory receptor, family 6, subfamily C, member 68 231 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 15 TTCTGTTCAACAAAAGAAAAA 0.353000 10 39 0 0 1 0 0 SRCAP 10847 broad.mit.edu 37 16 30732114 30732114 + Missense_Mutation SNP C C G TCGA-D6-8569-01A-11D-2394-08 TCGA-D6-8569-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94b593da-a73a-40cd-bd87-1bac2ef88892 2980a1f4-2730-42c0-80af-7efc1d0b6f23 g.chr16:30732114C>G ENST00000262518.4 + 20 3453 c.3068C>G c.(3067-3069)cCa>cGa p.P1023R SRCAP_ENST00000344771.4_Missense_Mutation_p.P1023R|SRCAP_ENST00000395059.2_Missense_Mutation_p.P1023R NM_006662.2 NP_006653.2 Q6ZRS2 SRCAP_HUMAN Snf2-related CREBBP activator protein 1023 Pro-rich. interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|nucleus|protein complex ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5) 136 Colorectal(24;0.198) GGCCCTGTCCCAGTTCGACCT 0.612000 42 69 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179434641 179434641 + Silent SNP T T C TCGA-D6-8569-01A-11D-2394-08 TCGA-D6-8569-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94b593da-a73a-40cd-bd87-1bac2ef88892 2980a1f4-2730-42c0-80af-7efc1d0b6f23 g.chr2:179434641T>C ENST00000589042.1 - 326 76442 c.76218A>G c.(76216-76218)ccA>ccG p.P25406P TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Silent_p.P23765P|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000460472.2_Silent_p.P16341P|TTN_ENST00000359218.5_Silent_p.P16466P|TTN_ENST00000342992.6_Silent_p.P22838P|TTN_ENST00000342175.6_Silent_p.P16533P|TTN-AS1_ENST00000586452.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 23765 Fibronectin type-III 84. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TTGGGGGTCCTGGTTTATAAA 0.423000 10 39 0 0 1 0 0 CSMD3 114788 broad.mit.edu 37 8 113563056 113563056 + Nonsense_Mutation SNP G G A TCGA-D6-8569-01A-11D-2394-08 TCGA-D6-8569-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94b593da-a73a-40cd-bd87-1bac2ef88892 2980a1f4-2730-42c0-80af-7efc1d0b6f23 g.chr8:113563056G>A ENST00000297405.5 - 27 4652 c.4408C>T c.(4408-4410)Cga>Tga p.R1470* CSMD3_ENST00000455883.2_Nonsense_Mutation_p.R1366*|CSMD3_ENST00000343508.3_Nonsense_Mutation_p.R1430*|CSMD3_ENST00000352409.3_Nonsense_Mutation_p.R1470* NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 1470 CUB 8. integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 TCCCAGACTCGGAGTATATCA 0.373000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 16 43 0 0 1 0 0 BARD1 580 broad.mit.edu 37 2 215593641 215593641 + Missense_Mutation SNP C C T TCGA-D6-8569-01A-11D-2394-08 TCGA-D6-8569-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94b593da-a73a-40cd-bd87-1bac2ef88892 2980a1f4-2730-42c0-80af-7efc1d0b6f23 g.chr2:215593641C>T ENST00000260947.4 - 11 2227 c.2093G>A c.(2092-2094)gGt>gAt p.G698D BARD1_ENST00000432456.1_Missense_Mutation_p.G69D|BARD1_ENST00000449967.2_Missense_Mutation_p.V553M NM_000465.2 NP_000456.2 Q99728 BARD1_HUMAN BRCA1 associated RING domain 1 698 BRCT 2. cell cycle arrest|DNA repair|negative regulation of apoptosis|negative regulation of mRNA 3'-end processing|negative regulation of protein export from nucleus|positive regulation of apoptosis|positive regulation of protein catabolic process|protein K6-linked ubiquitination|regulation of phosphorylation|tissue homeostasis BRCA1-A complex|BRCA1-BARD1 complex|cytoplasm kinase binding|protein heterodimerization activity|protein homodimerization activity|RNA binding|ubiquitin-protein ligase activity|zinc ion binding NS(2)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|prostate(4)|upper_aerodigestive_tract(1) 35 Renal(323;0.0243) Epithelial(149;3.2e-06)|all cancers(144;0.000461)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011) CTGGCCCCCACCTGCAGTGAC 0.488000 Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome 11 43 0 0 1 0 0 CRYBA4 1413 broad.mit.edu 37 22 27019213 27019213 + Missense_Mutation SNP G G A rs148346157 TCGA-D6-8569-01A-11D-2394-08 TCGA-D6-8569-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94b593da-a73a-40cd-bd87-1bac2ef88892 2980a1f4-2730-42c0-80af-7efc1d0b6f23 g.chr22:27019213G>A ENST00000354760.3 + 3 90 c.55G>A c.(55-57)Gag>Aag p.E19K CRYBA4_ENST00000466315.1_Intron NM_001886.2 NP_001877.1 P53673 CRBA4_HUMAN crystallin, beta A4 19 Beta/gamma crystallin 'Greek key' 1. camera-type eye development|visual perception soluble fraction structural constituent of eye lens large_intestine(6)|liver(1)|lung(6)|skin(3)|urinary_tract(2) 18 GGTGTGGGATGAGGACGGCTT 0.607000 6 113 0 0 1 0 0 FAM155A 728215 broad.mit.edu 37 13 108518299 108518299 + Missense_Mutation SNP A A C TCGA-D6-8569-01A-11D-2394-08 TCGA-D6-8569-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94b593da-a73a-40cd-bd87-1bac2ef88892 2980a1f4-2730-42c0-80af-7efc1d0b6f23 g.chr13:108518299A>C ENST00000375915.2 - 1 784 c.646T>G c.(646-648)Tgg>Ggg p.W216G NM_001080396.2 NP_001073865.1 B1AL88 F155A_HUMAN family with sequence similarity 155, member A 216 integral to membrane binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 33 GACAAGTTCCAGAGCGGAGTG 0.582000 32 107 0 0 1 0 0 SEPT11 55752 broad.mit.edu 37 4 77936159 77936159 + Missense_Mutation SNP G G A TCGA-D6-8569-01A-11D-2394-08 TCGA-D6-8569-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94b593da-a73a-40cd-bd87-1bac2ef88892 2980a1f4-2730-42c0-80af-7efc1d0b6f23 g.chr4:77936159G>A ENST00000264893.6 + 5 877 c.676G>A c.(676-678)Gca>Aca p.A226T SEPT11_ENST00000502584.1_Missense_Mutation_p.A226T|SEPT11_ENST00000505788.1_Missense_Mutation_p.A226T|SEPT11_ENST00000510515.1_Missense_Mutation_p.A236T|SEPT11_ENST00000512575.1_Intron|SEPT11_ENST00000541121.1_Missense_Mutation_p.A236T NM_018243.2 NP_060713.1 Q9NVA2 SEP11_HUMAN septin 11 226 cell cycle|cell division|protein heterooligomerization axon|cell junction|dendritic spine|septin complex|stress fiber|synapse GTP binding|protein binding p.A226T(1) endometrium(2)|kidney(3)|large_intestine(3)|lung(1)|skin(1)|stomach(1) 11 AGAGATTAACGCAACAATGAG 0.438000 18 79 0 0 1 0 0 WAPAL 23063 broad.mit.edu 37 10 88259531 88259531 + Missense_Mutation SNP G G A TCGA-D6-8569-01A-11D-2394-08 TCGA-D6-8569-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94b593da-a73a-40cd-bd87-1bac2ef88892 2980a1f4-2730-42c0-80af-7efc1d0b6f23 g.chr10:88259531G>A ENST00000298767.5 - 3 1941 c.1469C>T c.(1468-1470)cCt>cTt p.P490L NM_015045.2 NP_055860.1 Q7Z5K2 WAPL_HUMAN wings apart-like homolog (Drosophila) 490 Mediates interaction with the cohesin complex. cell division|interspecies interaction between organisms|mitosis|negative regulation of chromatin binding|negative regulation of DNA replication|negative regulation of sister chromatid cohesion|protein localization to chromatin|regulation of cohesin localization to chromatin chromatin|cohesin complex|cytoplasm protein binding breast(2)|endometrium(2)|kidney(5)|large_intestine(6)|lung(13)|ovary(2)|stomach(1) 31 TTCTGGGGGAGGCTGCAAGGA 0.393000 29 68 0 0 1 0 0 CSHL1 1444 broad.mit.edu 37 17 61987405 61987405 + Silent SNP A A T rs2006122 by1000genomes TCGA-D6-8569-01A-11D-2394-08 TCGA-D6-8569-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94b593da-a73a-40cd-bd87-1bac2ef88892 2980a1f4-2730-42c0-80af-7efc1d0b6f23 g.chr17:61987405A>T ENST00000450719.3 - 3 543 c.306T>A c.(304-306)ccT>ccA p.P102P CSHL1_ENST00000309894.5_Intron|CSHL1_ENST00000561003.1_Silent_p.P113P|CSHL1_ENST00000392824.4_3'UTR|CSHL1_ENST00000558099.1_5'UTR|CSHL1_ENST00000259003.10_Intron|CSHL1_ENST00000346606.6_Intron|CSHL1_ENST00000438387.2_Intron Q14406 CSHL_HUMAN chorionic somatomammotropin hormone-like 1 0 extracellular region hormone activity|metal ion binding endometrium(3)|lung(6) 9 ATGAAGAATAAGGTGAGTTCT 0.547000 8 129 0 0 1 0 0 FAM86JP 100125556 broad.mit.edu 37 3 125643915 125643915 + RNA SNP T T C rs79335314 by1000genomes TCGA-D6-8569-01A-11D-2394-08 TCGA-D6-8569-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94b593da-a73a-40cd-bd87-1bac2ef88892 2980a1f4-2730-42c0-80af-7efc1d0b6f23 g.chr3:125643915T>C ENST00000485843.1 + 0 439 NR_024251.1 TGGCCTTTACTGTCCGCAACC 0.652000 5 87 0 0 1 0 0 GPT2 84706 broad.mit.edu 37 16 46960923 46960923 + Silent SNP G G A TCGA-D6-8569-01A-11D-2394-08 TCGA-D6-8569-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94b593da-a73a-40cd-bd87-1bac2ef88892 2980a1f4-2730-42c0-80af-7efc1d0b6f23 g.chr16:46960923G>A ENST00000440783.2 + 11 1820 c.1155G>A c.(1153-1155)ggG>ggA p.G385G GPT2_ENST00000340124.4_Silent_p.G485G NM_001142466.1 NP_001135938.1 Q8TD30 ALAT2_HUMAN glutamic pyruvate transaminase (alanine aminotransferase) 2 485 2-oxoglutarate metabolic process|cellular amino acid biosynthetic process|L-alanine metabolic process mitochondrial matrix L-alanine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(2) 23 all_cancers(37;0.0276)|all_epithelial(9;0.0498)|all_lung(18;0.0522) L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114) GTGGCTTTGGGCAGAGGGAAG 0.562000 31 77 0 0 1 0 0 FSTL5 56884 broad.mit.edu 37 4 162307341 162307341 + Missense_Mutation SNP G G T TCGA-D6-8569-01A-11D-2394-08 TCGA-D6-8569-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94b593da-a73a-40cd-bd87-1bac2ef88892 2980a1f4-2730-42c0-80af-7efc1d0b6f23 g.chr4:162307341G>T ENST00000306100.5 - 16 2538 c.2102C>A c.(2101-2103)cCa>cAa p.P701Q FSTL5_ENST00000427802.2_Missense_Mutation_p.P691Q|RP11-234O6.2_ENST00000508189.1_RNA|FSTL5_ENST00000536695.1_Missense_Mutation_p.P700Q|FSTL5_ENST00000379164.4_Missense_Mutation_p.P700Q NM_001128427.2|NM_020116.4 NP_001121899.1|NP_064501.2 Q8N475 FSTL5_HUMAN follistatin-like 5 701 extracellular region calcium ion binding central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 91 all_hematologic(180;0.24) COAD - Colon adenocarcinoma(41;0.179) GTGGCCATCTGGAGAGACATA 0.468000 29 46 1.68575e-08 1.85433e-08 1 1 0 FRAS1 80144 broad.mit.edu 37 4 79284755 79284755 + Silent SNP G G T rs147300670 by1000genomes TCGA-D6-8569-01A-11D-2394-08 TCGA-D6-8569-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94b593da-a73a-40cd-bd87-1bac2ef88892 2980a1f4-2730-42c0-80af-7efc1d0b6f23 g.chr4:79284755G>T ENST00000264895.6 + 21 2951 c.2511G>T c.(2509-2511)ctG>ctT p.L837L FRAS1_ENST00000325942.6_Silent_p.L837L NM_025074.6 NP_079350.5 Q86XX4 FRAS1_HUMAN Fraser syndrome 1 837 cell communication integral to membrane|plasma membrane metal ion binding breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4) 103 ACTACCTGCTGCTCGGGGACC 0.567000 5 14 0.014758 0.0148423 1 1 0 PARD3 56288 broad.mit.edu 37 10 34558645 34558645 + Missense_Mutation SNP A A G TCGA-D6-8569-01A-11D-2394-08 TCGA-D6-8569-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94b593da-a73a-40cd-bd87-1bac2ef88892 2980a1f4-2730-42c0-80af-7efc1d0b6f23 g.chr10:34558645A>G ENST00000374789.3 - 22 3693 c.3368T>C c.(3367-3369)aTg>aCg p.M1123T PARD3_ENST00000545260.1_Missense_Mutation_p.M1033T|PARD3_ENST00000350537.4_Missense_Mutation_p.M1077T|PARD3_ENST00000374790.3_Missense_Mutation_p.M1063T|PARD3_ENST00000374788.3_Missense_Mutation_p.M1120T|PARD3_ENST00000346874.4_Missense_Mutation_p.M1086T|PARD3_ENST00000374794.3_Missense_Mutation_p.M1011T|PARD3_ENST00000545693.1_Missense_Mutation_p.M1107T NM_019619.3 NP_062565.2 Q8TEW0 PARD3_HUMAN par-3 family cell polarity regulator 1123 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 63 Breast(68;0.0707) CAAAGCATCCATCATATGCCC 0.498000 15 46 0 0 1 0 0 NDUFA9 4704 broad.mit.edu 37 12 4796104 4796104 + Splice_Site SNP A A G TCGA-D6-8569-01A-11D-2394-08 TCGA-D6-8569-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94b593da-a73a-40cd-bd87-1bac2ef88892 2980a1f4-2730-42c0-80af-7efc1d0b6f23 g.chr12:4796104A>G ENST00000266544.5 + 11 984 c.963_splice c.e11-1 p.M322_splice NDUFA9_ENST00000540688.1_Splice_Site_p.M81_splice|RP11-234B24.6_ENST00000544741.2_Intron NM_005002.4 NP_004993.1 Q16795 NDUA9_HUMAN NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 9, 39kDa 322 mitochondrial electron transport, NADH to ubiquinone|sodium ion transport mitochondrial matrix|mitochondrial respiratory chain complex I NADH dehydrogenase (ubiquinone) activity|protein binding NS(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 21 NADH(DB00157) TTATCCAAAGATGCACATCAC 0.478000 11 10 0 0 1 0 0 HRAS 3265 broad.mit.edu 37 11 534285 534285 + Missense_Mutation SNP C C A rs104894226 TCGA-D6-8569-01A-11D-2394-08 TCGA-D6-8569-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94b593da-a73a-40cd-bd87-1bac2ef88892 2980a1f4-2730-42c0-80af-7efc1d0b6f23 g.chr11:534285C>A ENST00000417302.1 - 2 225 c.38G>T c.(37-39)gGt>gTt p.G13V HRAS_ENST00000311189.7_Missense_Mutation_p.G13V|HRAS_ENST00000451590.1_Missense_Mutation_p.G13V|HRAS_ENST00000397596.2_Missense_Mutation_p.G13V|HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000397594.1_Missense_Mutation_p.G13V NM_176795.3 NP_789765.1 P01112 RASH_HUMAN Harvey rat sarcoma viral oncogene homolog 13 G -> C (in FCSS).|G -> D (in FCSS). activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission cytosol|Golgi membrane|plasma membrane GTP binding|GTPase activity|protein C-terminus binding p.G13V(14)|p.G13D(10)|p.G12_G13insAG(1) adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225) 901 all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713) all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703) Sulindac(DB00605) CTTGCCCACACCGCCGGCGCC 0.642000 6 Mis """infrequent sarcomas, rare other types""" """rhadomyosarcoma, ganglioneuroblastoma, bladder""" Costello syndrome HNSCC(11;0.0054) 12 28 9.31168e-06 9.81351e-06 1 1 0 CXorf66 347487 broad.mit.edu 37 X 139038215 139038215 + Missense_Mutation SNP G G T TCGA-D6-8569-01A-11D-2394-08 TCGA-D6-8569-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94b593da-a73a-40cd-bd87-1bac2ef88892 2980a1f4-2730-42c0-80af-7efc1d0b6f23 g.chrX:139038215G>T ENST00000370540.1 - 3 949 c.926C>A c.(925-927)tCc>tAc p.S309Y NM_001013403.2 NP_001013421.1 Q5JRM2 CX066_HUMAN chromosome X open reading frame 66 309 integral to membrane breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|skin(1)|stomach(1) 26 CTTACGAAAGGACCTGGAAGA 0.378000 54 37 9.52127e-25 1.18847e-24 1 1 0 ERBB4 2066 broad.mit.edu 37 2 212251760 212251760 + Missense_Mutation SNP T T A TCGA-D6-8569-01A-11D-2394-08 TCGA-D6-8569-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94b593da-a73a-40cd-bd87-1bac2ef88892 2980a1f4-2730-42c0-80af-7efc1d0b6f23 g.chr2:212251760T>A ENST00000342788.4 - 27 3609 c.3299A>T c.(3298-3300)gAg>gTg p.E1100V ERBB4_ENST00000436443.1_Missense_Mutation_p.E1084V|ERBB4_ENST00000402597.1_Missense_Mutation_p.E1090V NM_005235.2 NP_005226.1 Q15303 ERBB4_HUMAN v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4 1100 cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway basolateral plasma membrane|cytoplasm|integral to membrane|nucleus ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 179 Renal(323;0.06)|Lung NSC(271;0.197) UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266) ATCAAAAATCTCAGCAGTAGC 0.552000 TSP Lung(8;0.080) 33 100 0 0 1 0 0 DGKK 139189 broad.mit.edu 37 X 50129580 50129580 + RNA SNP T T C TCGA-D6-8569-01A-11D-2394-08 TCGA-D6-8569-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94b593da-a73a-40cd-bd87-1bac2ef88892 2980a1f4-2730-42c0-80af-7efc1d0b6f23 g.chrX:50129580T>C ENST00000376025.2 - 0 2182 Q5KSL6 DGKK_HUMAN diacylglycerol kinase, kappa activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress cytoplasm|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 Ovarian(276;0.236) ATACATTAAGTCACTCTATAT 0.488000 10 13 0 0 1 0 0 EPHX1 2052 broad.mit.edu 37 1 226030159 226030159 + Missense_Mutation SNP G G A TCGA-D6-8569-01A-11D-2394-08 TCGA-D6-8569-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94b593da-a73a-40cd-bd87-1bac2ef88892 2980a1f4-2730-42c0-80af-7efc1d0b6f23 g.chr1:226030159G>A ENST00000366837.4 + 7 1220 c.1024G>A c.(1024-1026)Gat>Aat p.D342N EPHX1_ENST00000272167.5_Missense_Mutation_p.D342N|RP11-285F7.2_ENST00000424332.1_RNA NM_000120.3 NP_000111.1 P07099 HYEP_HUMAN epoxide hydrolase 1, microsomal (xenobiotic) 342 aromatic compound catabolic process|response to toxin endoplasmic reticulum membrane|integral to membrane|microsome cis-stilbene-oxide hydrolase activity|epoxide hydrolase activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 28 Breast(184;0.197) ATACCTGGAGGATGGAGGCCT 0.572000 17 38 0 0 1 0 0 CACNA1E 777 broad.mit.edu 37 1 181702832 181702832 + Missense_Mutation SNP G G A TCGA-D6-8569-01A-11D-2394-08 TCGA-D6-8569-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94b593da-a73a-40cd-bd87-1bac2ef88892 2980a1f4-2730-42c0-80af-7efc1d0b6f23 g.chr1:181702832G>A ENST00000526775.1 + 20 3316 c.3151G>A c.(3151-3153)Gtc>Atc p.V1051I CACNA1E_ENST00000367573.2_Missense_Mutation_p.V1070I|CACNA1E_ENST00000367570.1_Missense_Mutation_p.V1070I|CACNA1E_ENST00000367567.4_Missense_Mutation_p.V677I|CACNA1E_ENST00000357570.5_Missense_Mutation_p.V1021I|CACNA1E_ENST00000358338.5_Missense_Mutation_p.V1002I|CACNA1E_ENST00000360108.3_Missense_Mutation_p.V1051I NM_001205294.1 NP_001192223.1 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, alpha 1E subunit 1070 energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 204 GAGCACCAGCGTCACCGTCGC 0.632000 4 28 0 0 1 0 0 KBTBD12 166348 broad.mit.edu 37 3 127642128 127642128 + Missense_Mutation SNP A A T TCGA-D6-8569-01A-11D-2394-08 TCGA-D6-8569-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94b593da-a73a-40cd-bd87-1bac2ef88892 2980a1f4-2730-42c0-80af-7efc1d0b6f23 g.chr3:127642128A>T ENST00000405109.1 + 2 691 c.224A>T c.(223-225)tAt>tTt p.Y75F KBTBD12_ENST00000407609.3_Intron|KBTBD12_ENST00000405256.1_Missense_Mutation_p.Y75F Q3ZCT8 KBTBC_HUMAN kelch repeat and BTB (POZ) domain containing 12 75 BTB. endometrium(1)|large_intestine(6)|lung(5)|ovary(1) 13 GTCATACTTTATGACATCACA 0.413000 53 39 0 0 1 0 0 TRBV7-4 28594 broad.mit.edu 37 7 142176774 142176774 + RNA SNP A A G TCGA-D6-8569-01A-11D-2394-08 TCGA-D6-8569-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94b593da-a73a-40cd-bd87-1bac2ef88892 2980a1f4-2730-42c0-80af-7efc1d0b6f23 g.chr7:142176774A>G ENST00000390369.2 - 0 16 CACCCAGCAGAGGAGCCTGGT 0.537000 28 58 0 0 1 0 0 FMN2 56776 broad.mit.edu 37 1 240371421 240371421 + Silent SNP C C T TCGA-D6-8569-01A-11D-2394-08 TCGA-D6-8569-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94b593da-a73a-40cd-bd87-1bac2ef88892 2980a1f4-2730-42c0-80af-7efc1d0b6f23 g.chr1:240371421C>T ENST00000319653.9 + 5 3539 c.3309C>T c.(3307-3309)ccC>ccT p.P1103P NM_020066.4 NP_064450.3 Q9NZ56 FMN2_HUMAN formin 2 1103 FH1.|Pro-rich. actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions actin binding p.P1246P(2) NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2) 178 Ovarian(103;0.127) all_cancers(173;0.013) OV - Ovarian serous cystadenocarcinoma(106;0.0106) CCCCTCTACCCGGAGTGGGCA 0.736000 3 27 0 0 1 0 0 CD68 968 broad.mit.edu 37 17 7484822 7484822 + Missense_Mutation SNP C C T TCGA-D6-8569-01A-11D-2394-08 TCGA-D6-8569-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94b593da-a73a-40cd-bd87-1bac2ef88892 2980a1f4-2730-42c0-80af-7efc1d0b6f23 g.chr17:7484822C>T ENST00000250092.6 + 6 1269 c.1058C>T c.(1057-1059)gCc>gTc p.A353V CD68_ENST00000380498.6_Missense_Mutation_p.A326V NM_001251.2 NP_001242.2 P34810 CD68_HUMAN CD68 molecule 353 endosome membrane|integral to membrane|lysosomal membrane|membrane fraction|plasma membrane endometrium(1)|lung(1)|skin(1) 3 GCCTACCAGGCCCTCTGAGCA 0.577000 26 34 0 0 1 0 0 ZC3HAV1 56829 broad.mit.edu 37 7 138758754 138758754 + Missense_Mutation SNP T T C rs150148096 by1000genomes TCGA-D6-8569-01A-11D-2394-08 TCGA-D6-8569-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94b593da-a73a-40cd-bd87-1bac2ef88892 2980a1f4-2730-42c0-80af-7efc1d0b6f23 g.chr7:138758754T>C ENST00000242351.5 - 7 2036 c.1720A>G c.(1720-1722)Atc>Gtc p.I574V ZC3HAV1_ENST00000464606.1_Missense_Mutation_p.I696V|ZC3HAV1_ENST00000471652.1_Missense_Mutation_p.I574V NM_020119.3 NP_064504.2 Q7Z2W4 ZCCHV_HUMAN zinc finger CCCH-type, antiviral 1 574 response to virus cytoplasm|nucleus NAD+ ADP-ribosyltransferase activity|RNA binding|zinc ion binding cervix(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(4)|skin(1) 37 CGAAAATTGATTGTATAACTT 0.423000 22 59 0 0 1 0 0 MYH8 4626 broad.mit.edu 37 17 10293783 10293783 + Silent SNP G G T TCGA-D6-8569-01A-11D-2394-08 TCGA-D6-8569-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94b593da-a73a-40cd-bd87-1bac2ef88892 2980a1f4-2730-42c0-80af-7efc1d0b6f23 g.chr17:10293783G>T ENST00000403437.2 - 40 5896 c.5802C>A c.(5800-5802)atC>atA p.I1934I CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA NM_002472.2 NP_002463.2 P13535 MYH8_HUMAN myosin, heavy chain 8, skeletal muscle, perinatal 1934 muscle filament sliding cytosol|muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2) 134 ACTCTGCACTGATTTTTGTGT 0.473000 Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling 27 116 4.87955e-14 5.68743e-14 1 1 0 RC3H2 54542 broad.mit.edu 37 9 125627747 125627747 + Missense_Mutation SNP C C T TCGA-D6-8569-01A-11D-2394-08 TCGA-D6-8569-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94b593da-a73a-40cd-bd87-1bac2ef88892 2980a1f4-2730-42c0-80af-7efc1d0b6f23 g.chr9:125627747C>T ENST00000373665.2 - 11 1673 c.1433G>A c.(1432-1434)aGc>aAc p.S478N RC3H2_ENST00000357244.2_Silent_p.Q505Q|RC3H2_ENST00000373670.1_Silent_p.Q505Q|RC3H2_ENST00000423239.2_Silent_p.Q505Q Q9HBD1 RC3H2_HUMAN ring finger and CCCH-type domains 2 0 cell surface|endomembrane system|membrane|membrane fraction|perinuclear region of cytoplasm DNA binding|zinc ion binding breast(3)|central_nervous_system(1)|endometrium(6)|large_intestine(4)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 33 GTGAGATTAGCTGGGAAACAC 0.453000 29 93 0 0 1 0 0 MED4 29079 broad.mit.edu 37 13 48653988 48653988 + Missense_Mutation SNP C C A TCGA-D6-8569-01A-11D-2394-08 TCGA-D6-8569-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94b593da-a73a-40cd-bd87-1bac2ef88892 2980a1f4-2730-42c0-80af-7efc1d0b6f23 g.chr13:48653988C>A ENST00000258648.2 - 6 657 c.632G>T c.(631-633)aGa>aTa p.R211I MED4-AS1_ENST00000422483.1_RNA|MED4_ENST00000378586.1_Missense_Mutation_p.R165I|MED4_ENST00000495013.1_5'UTR NM_014166.2 NP_054885.1 Q9NPJ6 MED4_HUMAN mediator complex subunit 4 211 androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1) 8 all_cancers(8;2.93e-25)|all_epithelial(8;4.38e-13)|all_lung(13;7.37e-06)|all_hematologic(8;8.61e-05)|Breast(56;0.000141)|Lung NSC(96;0.000518)|Prostate(109;0.00132)|Acute lymphoblastic leukemia(8;0.00559)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236) GBM - Glioblastoma multiforme(144;5.18e-07) ACCTGGCAATCTTCCTGCTGC 0.438000 29 81 1.16021e-09 1.29238e-09 1 1 0 ADAM30 11085 broad.mit.edu 37 1 120438120 120438120 + Silent SNP T T C TCGA-D6-8569-01A-11D-2394-08 TCGA-D6-8569-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94b593da-a73a-40cd-bd87-1bac2ef88892 2980a1f4-2730-42c0-80af-7efc1d0b6f23 g.chr1:120438120T>C ENST00000369400.1 - 1 998 c.840A>G c.(838-840)aaA>aaG p.K280K NM_021794.3 NP_068566.2 Q9UKF2 ADA30_HUMAN ADAM metallopeptidase domain 30 280 Peptidase M12B. proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2) 38 all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234) all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138) Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117) ATACACTTTTTTTATATATTA 0.343000 36 48 0 0 1 0 0 RLF 6018 broad.mit.edu 37 1 40702813 40702813 + Frame_Shift_Del DEL C C - TCGA-D6-8569-01A-11D-2394-08 TCGA-D6-8569-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94b593da-a73a-40cd-bd87-1bac2ef88892 2980a1f4-2730-42c0-80af-7efc1d0b6f23 g.chr1:40702813delC ENST00000372771.4 + 8 2466 c.2439delC c.(2437-2439)tafs p.Y813fs NM_012421.3 NP_036553.2 Q13129 RLF_HUMAN rearranged L-myc fusion 813 chromosome organization|DNA integration|DNA mediated transformation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent DNA binding|protein binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2) 68 Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461) AGTTCTATTACTCCAAAATTG 0.383 18 47 --- --- --- --- DLX2 1746 broad.mit.edu 37 2 172967129 172967131 + In_Frame_Del DEL GCT GCT - TCGA-D6-8569-01A-11D-2394-08 TCGA-D6-8569-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94b593da-a73a-40cd-bd87-1bac2ef88892 2980a1f4-2730-42c0-80af-7efc1d0b6f23 g.chr2:172967129_172967131delGCT ENST00000234198.4 - 1 497_499 c.136_138delAGC c.(136-138)del p.S46del DLX2_ENST00000466293.2_In_Frame_Del_p.S46del NM_004405.3 NP_004396.1 Q07687 DLX2_HUMAN distal-less homeobox 2 46 Poly-Ser. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(1)|large_intestine(1)|lung(6)|ovary(2)|urinary_tract(1) 11 OV - Ovarian serous cystadenocarcinoma(117;0.216) GCTTGTGGAGgctgctgctgctg 0.739 2 4 --- --- --- --- LPP 4026 broad.mit.edu 37 3 188477995 188478003 + In_Frame_Del DEL CATCTGCAA CATCTGCAA - TCGA-D6-8569-01A-11D-2394-08 TCGA-D6-8569-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94b593da-a73a-40cd-bd87-1bac2ef88892 2980a1f4-2730-42c0-80af-7efc1d0b6f23 g.chr3:188477995_188478003delCATCTGCAA ENST00000312675.4 + 8 1581_1589 c.1335_1343delCATCTGCAA c.(1333-1344)atc>at p.IICN445del LPP_ENST00000543006.1_In_Frame_Del_p.IICN445del NM_001167672.1|NM_005578.3 NP_001161144.1|NP_005569.1 Q93052 LPP_HUMAN LIM domain containing preferred translocation partner in lipoma 445 LIM zinc-binding 1. cell adhesion cytoplasm|focal adhesion|nucleus protein binding|zinc ion binding HMGA2/LPP(161) NS(1)|breast(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2) 10 all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088) all_lung(153;0.00139)|Lung NSC(153;0.00202) GBM - Glioblastoma multiforme(93;0.00602) TTACCTGCATCATCTGCAACAACAAGCTC 0.502 T """HMGA2, MLL, C12orf9""" """lipoma, leukemia""" 22 77 --- --- --- --- TAAR1 134864 broad.mit.edu 37 6 132966722 132966723 + Frame_Shift_Del DEL AA AA - TCGA-D6-8569-01A-11D-2394-08 TCGA-D6-8569-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94b593da-a73a-40cd-bd87-1bac2ef88892 2980a1f4-2730-42c0-80af-7efc1d0b6f23 g.chr6:132966722_132966723delAA ENST00000275216.1 - 1 419_420 c.420_421delTT c.(418-423)atgtfs p.IC140fs NM_138327.1 NP_612200.1 Q96RJ0 TAAR1_HUMAN trace amine associated receptor 1 140 plasma membrane breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11) 18 Breast(56;0.135) OV - Ovarian serous cystadenocarcinoma(155;0.00616)|GBM - Glioblastoma multiforme(226;0.0154) Amphetamine(DB00182) ATCATCACACAAATAACCAAGA 0.396 23 50 --- --- --- --- KANK3 256949 broad.mit.edu 37 19 8398950 8398961 + In_Frame_Del DEL TCGCTGTCGCCA TCGCTGTCGCCA - rs111751275 TCGA-D6-8569-01A-11D-2394-08 TCGA-D6-8569-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94b593da-a73a-40cd-bd87-1bac2ef88892 2980a1f4-2730-42c0-80af-7efc1d0b6f23 g.chr19:8398950_8398961delTCGCTGTCGCCA ENST00000330915.3 - 5 1532_1543 c.1467_1478delTGGCGACAGCGA c.(1465-1479)gag>ga p.DGDSE489del KANK3_ENST00000593649.1_In_Frame_Del_p.DGDSE489del NM_198471.2 NP_940873.2 Q6NY19 KANK3_HUMAN KN motif and ankyrin repeat domains 3 489 p.D489_S492delDGDS(2) breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1) 9 GCCACCGTTCTCGCTGTCGCCATCGCTGTCGC 0.717 2 4 --- --- --- --- FLNA 2316 broad.mit.edu 37 X 153595205 153595205 + Frame_Shift_Del DEL T T - TCGA-D6-8569-01A-11D-2394-08 TCGA-D6-8569-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94b593da-a73a-40cd-bd87-1bac2ef88892 2980a1f4-2730-42c0-80af-7efc1d0b6f23 g.chrX:153595205delT ENST00000422373.1 - 6 1130 c.882delA c.(880-882)acfs p.T294fs FLNA_ENST00000344736.4_Frame_Shift_Del_p.T294fs|FLNA_ENST00000369850.3_Frame_Shift_Del_p.T294fs|FLNA_ENST00000360319.4_Frame_Shift_Del_p.T294fs NM_001456.3 NP_001447.2 P21333 FLNA_HUMAN filamin A, alpha 294 actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering cell cortex|cytosol|extracellular region|nucleus|plasma membrane actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding breast(6) 6 all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) CCATGTTGCCTGTGGGCTCGA 0.657 26 16 --- --- --- ---